#mode family_id sample_id chr:pos:ref:alt genotype(sample,dad,mom) gnomad_af gnomad_nhomalt gnomad_ac colors_af colors_nhomalt colors_ac gene highest_impact depths(sample,dad,mom) allele_balance(sample,dad,mom) gene_impact_transcript pLI oe.lof LOEUF LOEUF_decile clinvar phrank recessive HG002 HG002 chr1:497315:A:T 2,.,. -1 -1 -1 0.00595655 1 17 AL732372.2 53_non_coding 14,.,. 1,.,. AL732372.2/non_coding/ recessive HG002 HG002 chr1:497318:C:A 2,.,. -1 -1 -1 0.00280308 1 8 AL732372.2 53_non_coding 14,.,. 1,.,. AL732372.2/non_coding/ recessive HG002 HG002 chr1:497319:A:T 2,.,. -1 -1 -1 0.00420463 2 12 AL732372.2 53_non_coding 14,.,. 1,.,. AL732372.2/non_coding/ recessive HG002 HG002 chr1:925419:G:C 2,.,. -1 -1 -1 -1 -1 -1 SAMD11 50_intron 12,.,. 1,.,. SAMD11/intron/ 0.0000 1.4559 1.7640 8 dominant HG002 HG002 chr1:940259:C:CCG 1,.,. -1 -1 -1 -1 -1 -1 SAMD11 50_intron 21,.,. 0.571429,.,. SAMD11/intron/ 0.0000 1.4559 1.7640 8 dominant HG002 HG002 chr1:958181:G:A 1,.,. 6.66898e-06 0 1 -1 -1 -1 NOC2L 50_intron 16,.,. 0.5625,.,. NOC2L/intron/;NOC2L/non_coding/ 0.0000 1.1365 1.3440 7 recessive HG002 HG002 chr1:1057474:G:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. dominant HG002 HG002 chr1:1130127:C:CAG 1,.,. -1 -1 -1 -1 -1 -1 15,.,. 0.533333,.,. dominant HG002 HG002 chr1:1216550:C:A 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.428571,.,. dominant HG002 HG002 chr1:1280514:C:T 1,.,. -1 -1 -1 -1 -1 -1 SCNN1D 35_5_prime_utr 16,.,. 0.4375,.,. SCNN1D/5_prime_utr/ENST00000379116;SCNN1D/5_prime_utr&NMD_transcript/ENST00000379101 0.0000 1.2474 1.4830 8 recessive HG002 HG002 chr1:1360507:T:C 2,.,. -1 -1 -1 0.000700771 0 2 MXRA8 50_intron 18,.,. 1,.,. MXRA8/intron/ 0.0000 1.2535 1.6110 8 dominant HG002 HG002 chr1:1406214:G:C 1,.,. 6.57186e-06 0 1 -1 -1 -1 MRPL20 50_intron 30,.,. 0.5,.,. MRPL20/intron/;MRPL20/non_coding/ 0.0000 0.9796 1.4100 7 dominant HG002 HG002 chr1:1519956:G:C 1,.,. 6.57004e-06 0 1 -1 -1 -1 ATAD3A 50_intron 19,.,. 0.315789,.,. ATAD3A/intron/;ATAD3A/non_coding/ 0.0000 0.6674 0.8610 3 Harel-Yoon syndrome;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0.000 dominant HG002 HG002 chr1:1645715:T:G 1,.,. 6.56944e-06 0 1 -1 -1 -1 CDK11B 50_intron 30,.,. 0.433333,.,. CDK11B/intron/;CDK11B/non_coding/ 0.0000 0.6583 0.9020 4 dominant HG002 HG002 chr1:2132194:T:G 1,.,. 2.62829e-05 0 4 -1 -1 -1 PRKCZ 50_intron 25,.,. 0.52,.,. PRKCZ/intron/;PRKCZ/non_coding/ 0.0500 0.4307 0.5760 1 0.000 dominant HG002 HG002 chr1:2762237:A:G 1,.,. -1 -1 -1 0.000700771 0 2 TTC34 50_intron 24,.,. 0.375,.,. TTC34/intron/ 0.0000 1.1191 1.4670 8 dominant HG002 HG002 chr1:3049839:A:C 1,.,. 2.6347e-05 0 4 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr1:3077978:A:C 1,.,. 2.62784e-05 0 4 -1 -1 -1 PRDM16 50_intron 21,.,. 0.714286,.,. PRDM16/intron/;PRDM16/non_coding/ 1.0000 0.2112 0.3040 0 Left ventricular noncompaction 8 0.000 recessive HG002 HG002 chr1:3215369:G:GTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCTACTGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCTGGGGACAGGCAAGGCCCACGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGA 2,.,. -1 -1 -1 0.0238262 0 68 PRDM16 50_intron 12,.,. 1,.,. PRDM16/intron/ 1.0000 0.2112 0.3040 0 Left ventricular noncompaction 8 0.000 dominant HG002 HG002 chr1:3345826:C:T 1,.,. -1 -1 -1 -1 -1 -1 PRDM16 50_intron 16,.,. 0.4375,.,. PRDM16/intron/;PRDM16/non_coding/ 1.0000 0.2112 0.3040 0 Left ventricular noncompaction 8 0.000 recessive HG002 HG002 chr1:3918520:GCT:G 2,.,. 0.00858979 1 278 0.00385424 1 11 19,.,. 1,.,. recessive HG002 HG002 chr1:3918527:C:T 2,.,. 0.0161899 1 523 0.00105116 0 3 19,.,. 1,.,. dominant HG002 HG002 chr1:4066877:T:TCGCTCAGTCA 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr1:4066878:G:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr1:4067458:T:TTCAC 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr1:4067584:C:CTCACTCACTCAG 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr1:4129393:G:A 1,.,. 2.62975e-05 0 4 -1 -1 -1 32,.,. 0.34375,.,. recessive HG002 HG002 chr1:4171917:C:T 2,.,. 0.00114943 0 2 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr1:4535942:A:T 1,.,. 0.000103734 0 1 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr1:4535943:G:T 1,.,. 0.000104058 0 1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr1:4535944:TTGACC:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr1:4764272:C:T 1,.,. 1.31392e-05 0 2 -1 -1 -1 AJAP1 50_intron 39,.,. 0.538462,.,. AJAP1/intron/ 0.9992 0.1786 0.3760 0 dominant HG002 HG002 chr1:5335054:G:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr1:5342315:CACTT:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.341463,.,. dominant HG002 HG002 chr1:5342321:C:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.341463,.,. dominant HG002 HG002 chr1:5642004:G:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr1:5642006:A:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr1:5744218:C:T 1,.,. -1 -1 -1 -1 -1 -1 14,.,. 0.285714,.,. dominant HG002 HG002 chr1:5864452:C:A 1,.,. 2.62809e-05 0 4 -1 -1 -1 NPHP4 14_missense 20,.,. 0.65,.,. NPHP4/missense/ENST00000378156;NPHP4/3_prime_utr&NMD_transcript/ENST00000489180;NPHP4/3_prime_utr&NMD_transcript/ENST00000378169 0.0000 1.0298 1.1830 6 Nephronophthisis 4;Senior-Loken syndrome 4 0.000 recessive HG002 HG002 chr1:6084786:A:AGCTTGG 2,.,. -1 -1 -1 -1 -1 -1 KCNAB2 50_intron 30,.,. 1,.,. KCNAB2/intron/;KCNAB2/non_coding/ 0.0187 0.4512 0.6220 2 0.000 recessive HG002 HG002 chr1:6084787:T:G 2,.,. -1 -1 -1 -1 -1 -1 KCNAB2 50_intron 30,.,. 1,.,. KCNAB2/intron/;KCNAB2/non_coding/ 0.0187 0.4512 0.6220 2 0.000 dominant HG002 HG002 chr1:6144490:G:C 1,.,. 2.62809e-05 0 4 -1 -1 -1 CHD5 50_intron 23,.,. 0.608696,.,. CHD5/intron/ 1.0000 0.3133 0.3830 0 Parenti-mignot neurodevelopmental syndrome 0.000 recessive HG002 HG002 chr1:6440550:A:C 2,.,. -1 -1 -1 -1 -1 -1 ESPN 50_intron 23,.,. 1,.,. ESPN/intron/;ESPN/non_coding/ 0.0000 1.0629 1.3070 7 Usher syndrome, type 1M;Autosomal recessive nonsyndromic hearing loss 36 0.000 recessive HG002 HG002 chr1:6440551:C:A 2,.,. -1 -1 -1 -1 -1 -1 ESPN 50_intron 23,.,. 1,.,. ESPN/intron/;ESPN/non_coding/ 0.0000 1.0629 1.3070 7 Usher syndrome, type 1M;Autosomal recessive nonsyndromic hearing loss 36 0.000 dominant HG002 HG002 chr1:6899552:GCGCACACACACACACA:G 1,.,. 1.90993e-05 0 2 -1 -1 -1 CAMTA1 50_intron 27,.,. 0.444444,.,. CAMTA1/intron/ 1.0000 0.1613 0.2270 0 Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0.000 dominant HG002 HG002 chr1:6996681:TTAAA:T 1,.,. -1 -1 -1 0.000700771 0 2 CAMTA1 50_intron 33,.,. 0.575758,.,. CAMTA1/intron/ 1.0000 0.1613 0.2270 0 Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0.000 dominant HG002 HG002 chr1:6996693:G:A 1,.,. -1 -1 -1 -1 -1 -1 CAMTA1 50_intron 34,.,. 0.588235,.,. CAMTA1/intron/ 1.0000 0.1613 0.2270 0 Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0.000 dominant HG002 HG002 chr1:7739526:G:T 1,.,. -1 -1 -1 -1 -1 -1 CAMTA1 50_intron 36,.,. 0.444444,.,. CAMTA1/intron/ 1.0000 0.1613 0.2270 0 Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0.000 dominant HG002 HG002 chr1:7913732:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr1:8036096:A:ATATATATATG 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.365854,.,. dominant HG002 HG002 chr1:8163965:TTAA:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr1:8163969:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr1:8365721:G:T 1,.,. 6.56806e-06 0 1 -1 -1 -1 RERE 50_intron 21,.,. 0.428571,.,. RERE/intron/ 0.9988 0.3436 0.4590 1 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0.000 recessive HG002 HG002 chr1:8523665:A:T 2,.,. 4.80169e-05 0 1 -1 -1 -1 RERE 50_intron 40,.,. 1,.,. RERE/intron/;RERE/non_coding/ 0.9988 0.3436 0.4590 1 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0.000 recessive HG002 HG002 chr1:8523666:T:A 2,.,. -1 -1 -1 -1 -1 -1 RERE 50_intron 40,.,. 1,.,. RERE/intron/;RERE/non_coding/ 0.9988 0.3436 0.4590 1 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0.000 recessive HG002 HG002 chr1:8523667:T:A 2,.,. -1 -1 -1 -1 -1 -1 RERE 50_intron 40,.,. 1,.,. RERE/intron/;RERE/non_coding/ 0.9988 0.3436 0.4590 1 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0.000 recessive HG002 HG002 chr1:8523668:A:T 2,.,. -1 -1 -1 -1 -1 -1 RERE 50_intron 40,.,. 1,.,. RERE/intron/;RERE/non_coding/ 0.9988 0.3436 0.4590 1 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0.000 dominant HG002 HG002 chr1:9123538:ATATATCTAATTT:A 1,.,. -1 -1 -1 -1 -1 -1 GPR157 50_intron 24,.,. 0.375,.,. GPR157/intron/;GPR157/non_coding/ 0.0000 0.7849 1.1640 6 dominant HG002 HG002 chr1:9123552:A:T 1,.,. -1 -1 -1 -1 -1 -1 GPR157 50_intron 24,.,. 0.375,.,. GPR157/intron/;GPR157/non_coding/ 0.0000 0.7849 1.1640 6 dominant HG002 HG002 chr1:9146284:T:TTTCTCC 1,.,. 1.9946e-05 0 3 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr1:9580862:A:AAATAAT 1,.,. -1 -1 -1 -1 -1 -1 SLC25A33 50_intron 22,.,. 0.590909,.,. SLC25A33/intron/ 0.0274 0.4820 0.7420 3 dominant HG002 HG002 chr1:9654481:T:C 1,.,. -1 -1 -1 -1 -1 -1 PIK3CD 50_intron 28,.,. 0.571429,.,. PIK3CD/intron/ 1.0000 0.1584 0.2300 0 Immunodeficiency 14;Combined immunodeficiency with faciooculoskeletal anomalies;Immunodeficiency 14b, autosomal recessive 0.000 dominant HG002 HG002 chr1:9654482:G:C 1,.,. -1 -1 -1 -1 -1 -1 PIK3CD 50_intron 28,.,. 0.571429,.,. PIK3CD/intron/ 1.0000 0.1584 0.2300 0 Immunodeficiency 14;Combined immunodeficiency with faciooculoskeletal anomalies;Immunodeficiency 14b, autosomal recessive 0.000 dominant HG002 HG002 chr1:9654484:G:C 1,.,. -1 -1 -1 -1 -1 -1 PIK3CD 50_intron 28,.,. 0.571429,.,. PIK3CD/intron/ 1.0000 0.1584 0.2300 0 Immunodeficiency 14;Combined immunodeficiency with faciooculoskeletal anomalies;Immunodeficiency 14b, autosomal recessive 0.000 dominant HG002 HG002 chr1:9654486:A:G 1,.,. -1 -1 -1 -1 -1 -1 PIK3CD 50_intron 28,.,. 0.571429,.,. PIK3CD/intron/ 1.0000 0.1584 0.2300 0 Immunodeficiency 14;Combined immunodeficiency with faciooculoskeletal anomalies;Immunodeficiency 14b, autosomal recessive 0.000 recessive HG002 HG002 chr1:10517217:A:G 2,.,. -1 -1 -1 -1 -1 -1 PEX14 50_intron 37,.,. 1,.,. PEX14/non_coding/;PEX14/intron/ 0.9073 0.3467 0.5420 1 Peroxisome biogenesis disorder 13A (Zellweger) 0.000 recessive HG002 HG002 chr1:10517218:A:AACTCT 2,.,. -1 -1 -1 -1 -1 -1 PEX14 50_intron 35,.,. 1,.,. PEX14/non_coding/;PEX14/intron/ 0.9073 0.3467 0.5420 1 Peroxisome biogenesis disorder 13A (Zellweger) 0.000 dominant HG002 HG002 chr1:10785059:C:CTTTCTG 1,.,. -1 -1 -1 -1 -1 -1 CASZ1 50_intron 16,.,. 0.4375,.,. CASZ1/intron/ 1.0000 0.2056 0.2850 0 0.000 dominant HG002 HG002 chr1:10863415:C:T 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.470588,.,. recessive HG002 HG002 chr1:11623128:TGAG:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr1:11623132:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr1:11648972:T:TCAGCC 2,.,. 0.000212891 0 8 -1 -1 -1 FBXO2 50_intron 34,.,. 1,.,. FBXO2/intron/ 0.0000 1.0231 1.3740 7 dominant HG002 HG002 chr1:11786937:A:T 1,.,. -1 -1 -1 -1 -1 -1 MTHFR 36_3_prime_utr 28,.,. 0.5,.,. MTHFR/3_prime_utr/ENST00000376592;MTHFR/3_prime_utr/ENST00000376590;MTHFR/3_prime_utr/ENST00000376583;MTHFR/3_prime_utr/ENST00000376585 0.0000 0.6787 0.8590 3 Neural tube defects, folate-sensitive;Thrombophilia due to thrombin defect;Homocystinuria due to methylene tetrahydrofolate reductase deficiency 0.000 dominant HG002 HG002 chr1:11938172:C:CGA 1,.,. -1 -1 -1 -1 -1 -1 PLOD1 50_intron 25,.,. 0.32,.,. PLOD1/non_coding/;PLOD1/intron/ 0.0000 0.7523 0.9380 4 Ehlers-Danlos syndrome, kyphoscoliotic type 1 0.000 dominant HG002 HG002 chr1:11938174:A:C 1,.,. -1 -1 -1 -1 -1 -1 PLOD1 50_intron 25,.,. 0.32,.,. PLOD1/non_coding/;PLOD1/intron/ 0.0000 0.7523 0.9380 4 Ehlers-Danlos syndrome, kyphoscoliotic type 1 0.000 dominant HG002 HG002 chr1:11953447:C:T 1,.,. -1 -1 -1 -1 -1 -1 PLOD1 50_intron 42,.,. 0.47619,.,. PLOD1/non_coding/;PLOD1/intron/ 0.0000 0.7523 0.9380 4 Ehlers-Danlos syndrome, kyphoscoliotic type 1 0.000 dominant HG002 HG002 chr1:11972013:AAGGTACT:A 1,.,. -1 -1 -1 -1 -1 -1 PLOD1 50_intron 27,.,. 0.555556,.,. PLOD1/intron/;PLOD1/non_coding/ 0.0000 0.7523 0.9380 4 Ehlers-Danlos syndrome, kyphoscoliotic type 1 0.000 dominant HG002 HG002 chr1:11972021:T:G 1,.,. -1 -1 -1 -1 -1 -1 PLOD1 50_intron 27,.,. 0.555556,.,. PLOD1/intron/;PLOD1/non_coding/ 0.0000 0.7523 0.9380 4 Ehlers-Danlos syndrome, kyphoscoliotic type 1 0.000 dominant HG002 HG002 chr1:12475256:T:G 1,.,. -1 -1 -1 -1 -1 -1 VPS13D 50_intron 37,.,. 0.432432,.,. VPS13D/intron/;VPS13D/non_coding/ 1.0000 0.3755 0.4260 1 Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0.000 dominant HG002 HG002 chr1:12874987:T:C 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.583333,.,. dominant HG002 HG002 chr1:13031252:G:A 1,.,. -1 -1 -1 -1 -1 -1 PRAMEF28P 53_non_coding 30,.,. 0.633333,.,. PRAMEF28P/non_coding/ recessive HG002 HG002 chr1:13173453:CAATCTT:C 2,.,. -1 -1 -1 -1 -1 -1 PRAMEF9 50_intron 23,.,. 1,.,. PRAMEF9/intron/ 0.4563 0.2684 1.2440 7 recessive HG002 HG002 chr1:13173460:G:C 2,.,. -1 -1 -1 -1 -1 -1 PRAMEF9 50_intron 23,.,. 1,.,. PRAMEF9/intron/ 0.4563 0.2684 1.2440 7 recessive HG002 HG002 chr1:13180208:G:A 2,.,. -1 -1 -1 0.00175193 2 5 11,.,. 1,.,. dominant HG002 HG002 chr1:13223538:A:G 1,.,. -1 -1 -1 0.000700771 0 2 PRAMEF18 14_missense 36,.,. 0.333333,.,. PRAMEF18/missense/ENST00000624297 0.0000 0.8946 1.3770 7 dominant HG002 HG002 chr1:13227745:A:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr1:13233603:G:T 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.614035,.,. dominant HG002 HG002 chr1:13233605:T:G 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.603448,.,. dominant HG002 HG002 chr1:13340344:C:T 1,.,. -1 -1 -1 0.000700771 0 2 24,.,. 0.708333,.,. dominant HG002 HG002 chr1:13417908:A:ATGTGTGTGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 PRAMEF20 50_intron 19,.,. 0.368421,.,. PRAMEF20/intron/ 0.0000 0.7991 1.1020 6 dominant HG002 HG002 chr1:13602040:CTCATG:C 1,.,. -1 -1 -1 -1 -1 -1 PDPN 50_intron 27,.,. 0.481481,.,. PDPN/intron/ 0.7337 0.3010 0.6890 2 0.000 dominant HG002 HG002 chr1:13602046:C:A 1,.,. -1 -1 -1 -1 -1 -1 PDPN 50_intron 26,.,. 0.576923,.,. PDPN/intron/ 0.7337 0.3010 0.6890 2 0.000 dominant HG002 HG002 chr1:13711385:G:GAATACATTAT 1,.,. -1 -1 -1 -1 -1 -1 PRDM2 50_intron 38,.,. 0.684211,.,. PRDM2/intron/ 1.0000 0.2128 0.2970 0 dominant HG002 HG002 chr1:13711389:T:C 1,.,. -1 -1 -1 -1 -1 -1 PRDM2 50_intron 39,.,. 0.692308,.,. PRDM2/intron/ 1.0000 0.2128 0.2970 0 dominant HG002 HG002 chr1:13761773:G:A 1,.,. 6.57341e-06 0 1 -1 -1 -1 PRDM2 50_intron 45,.,. 0.377778,.,. PRDM2/intron/;PRDM2/non_coding/ 1.0000 0.2128 0.2970 0 dominant HG002 HG002 chr1:14046040:G:T 1,.,. -1 -1 -1 -1 -1 -1 KAZN 50_intron 32,.,. 0.53125,.,. KAZN/intron/ 0.0000 0.5273 0.6860 2 dominant HG002 HG002 chr1:14050060:TG:T 1,.,. 1.97522e-05 0 3 -1 -1 -1 KAZN 50_intron 28,.,. 0.535714,.,. KAZN/intron/ 0.0000 0.5273 0.6860 2 dominant HG002 HG002 chr1:14268041:A:T 1,.,. 2.62943e-05 0 4 -1 -1 -1 KAZN 50_intron 39,.,. 0.358974,.,. KAZN/intron/ 0.0000 0.5273 0.6860 2 dominant HG002 HG002 chr1:14268042:T:A 1,.,. 2.62847e-05 0 4 -1 -1 -1 KAZN 50_intron 39,.,. 0.358974,.,. KAZN/intron/ 0.0000 0.5273 0.6860 2 dominant HG002 HG002 chr1:14308784:C:T 1,.,. -1 -1 -1 -1 -1 -1 KAZN 50_intron 53,.,. 0.509434,.,. KAZN/intron/ 0.0000 0.5273 0.6860 2 dominant HG002 HG002 chr1:14407153:G:A 1,.,. 2.62671e-05 0 4 -1 -1 -1 KAZN 50_intron 36,.,. 0.472222,.,. KAZN/intron/ 0.0000 0.5273 0.6860 2 dominant HG002 HG002 chr1:14455055:C:CAG 1,.,. 2.17903e-05 0 1 -1 -1 -1 KAZN 50_intron 29,.,. 0.655172,.,. KAZN/intron/ 0.0000 0.5273 0.6860 2 dominant HG002 HG002 chr1:14455061:A:G 1,.,. 1.98109e-05 0 3 0.00105116 0 3 KAZN 50_intron 32,.,. 0.65625,.,. KAZN/intron/ 0.0000 0.5273 0.6860 2 dominant HG002 HG002 chr1:14507978:TA:T 1,.,. -1 -1 -1 0.000700771 0 2 KAZN 50_intron 35,.,. 0.314286,.,. KAZN/intron/ 0.0000 0.5273 0.6860 2 dominant HG002 HG002 chr1:14629210:G:C 1,.,. 1.31489e-05 0 2 -1 -1 -1 KAZN 50_intron 40,.,. 0.425,.,. KAZN/intron/;KAZN/non_coding/ 0.0000 0.5273 0.6860 2 dominant HG002 HG002 chr1:14836634:G:C 1,.,. 1.31529e-05 0 2 -1 -1 -1 KAZN 50_intron 40,.,. 0.35,.,. KAZN/intron/;KAZN/non_coding/ 0.0000 0.5273 0.6860 2 dominant HG002 HG002 chr1:14879775:A:G 1,.,. 1.31397e-05 0 2 -1 -1 -1 KAZN 50_intron 23,.,. 0.434783,.,. KAZN/intron/;KAZN/non_coding/ 0.0000 0.5273 0.6860 2 recessive HG002 HG002 chr1:15109929:G:A 2,.,. 0.00362038 0 28 -1 -1 -1 KAZN 50_intron 42,.,. 1,.,. KAZN/intron/ 0.0000 0.5273 0.6860 2 recessive HG002 HG002 chr1:15109937:G:GTGTTTGTGTGTT 2,.,. 0.000320153 0 45 -1 -1 -1 KAZN 50_intron 41,.,. 1,.,. KAZN/intron/ 0.0000 0.5273 0.6860 2 dominant HG002 HG002 chr1:15214867:C:T 1,.,. 6.56814e-06 0 1 -1 -1 -1 TMEM51 50_intron 29,.,. 0.551724,.,. TMEM51/intron/ 0.0939 0.4827 0.8710 4 dominant HG002 HG002 chr1:15698201:A:ATTTTTAT 1,.,. 1.98002e-05 0 3 -1 -1 -1 PLEKHM2 50_intron 25,.,. 0.48,.,. PLEKHM2/intron/;PLEKHM2/non_coding/ 0.0000 0.8938 1.0860 5 recessive HG002 HG002 chr1:16192673:TATAC:T 2,.,. 0.000309278 0 3 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr1:16192681:G:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr1:16194723:A:G 2,.,. 0.00186243 0 15 0.00630694 1 18 22,.,. 1,.,. dominant HG002 HG002 chr1:16201974:GCCTACCCTAGGGAC:G 1,.,. -1 -1 -1 -1 -1 -1 ARHGEF19 50_intron 19,.,. 0.315789,.,. ARHGEF19/intron/;ARHGEF19/non_coding/ 0.0000 1.1186 1.3270 7 dominant HG002 HG002 chr1:16201989:C:T 1,.,. -1 -1 -1 -1 -1 -1 ARHGEF19 50_intron 19,.,. 0.315789,.,. ARHGEF19/intron/;ARHGEF19/non_coding/ 0.0000 1.1186 1.3270 7 dominant HG002 HG002 chr1:16211599:A:G 1,.,. 1.28301e-05 0 1 -1 -1 -1 ARHGEF19 50_intron 26,.,. 0.5,.,. ARHGEF19/intron/ 0.0000 1.1186 1.3270 7 dominant HG002 HG002 chr1:16211601:GGAA:G 1,.,. -1 -1 -1 -1 -1 -1 ARHGEF19 50_intron 26,.,. 0.5,.,. ARHGEF19/intron/ 0.0000 1.1186 1.3270 7 dominant HG002 HG002 chr1:16504842:T:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.571429,.,. dominant HG002 HG002 chr1:17059176:T:G 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.37037,.,. recessive HG002 HG002 chr1:17213183:T:TTCGGAGTC 2,.,. 0.000123274 0 1 -1 -1 -1 PADI1 50_intron 20,.,. 1,.,. PADI1/intron/ 0.0000 0.8664 1.0870 5 recessive HG002 HG002 chr1:17213187:C:A 2,.,. -1 -1 -1 -1 -1 -1 PADI1 50_intron 20,.,. 1,.,. PADI1/intron/ 0.0000 0.8664 1.0870 5 recessive HG002 HG002 chr1:17213189:A:G 2,.,. -1 -1 -1 -1 -1 -1 PADI1 50_intron 20,.,. 1,.,. PADI1/intron/ 0.0000 0.8664 1.0870 5 recessive HG002 HG002 chr1:17298408:GTTTGCAA:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr1:17298416:A:C 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chr1:17775370:G:A 1,.,. -1 -1 -1 -1 -1 -1 ACTL8 50_intron 22,.,. 0.5,.,. ACTL8/intron/ 0.6014 0.3306 0.7560 3 recessive HG002 HG002 chr1:17868629:T:TGGTGCAAAAGTAATTGTGGTTTTTGCAATTAATAATGCAATTAACAATGGCAAAAACCACAATTAC 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr1:17868631:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr1:17868632:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chr1:17967242:G:GATTC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr1:18269507:G:A 1,.,. 2.62881e-05 0 4 -1 -1 -1 IGSF21 50_intron 25,.,. 0.52,.,. IGSF21/intron/ 0.0000 0.6103 0.8580 3 dominant HG002 HG002 chr1:18304698:CACACACACAT:C 1,.,. -1 -1 -1 -1 -1 -1 IGSF21 50_intron 32,.,. 0.5,.,. IGSF21/intron/;IGSF21/non_coding/ 0.0000 0.6103 0.8580 3 dominant HG002 HG002 chr1:18727368:TCATA:T 1,.,. -1 -1 -1 -1 -1 -1 PAX7 50_intron 24,.,. 0.458333,.,. PAX7/intron/ 0.9767 0.3319 0.5040 1 Myopathy, congenital, progressive, with scoliosis 0.000 dominant HG002 HG002 chr1:18915386:C:CATTT 1,.,. -1 -1 -1 -1 -1 -1 IFFO2 50_intron 40,.,. 0.3,.,. IFFO2/intron/ 0.2227 0.4195 0.6460 2 dominant HG002 HG002 chr1:18915387:T:G 1,.,. -1 -1 -1 -1 -1 -1 IFFO2 50_intron 40,.,. 0.3,.,. IFFO2/intron/ 0.2227 0.4195 0.6460 2 dominant HG002 HG002 chr1:19194947:T:TTAAATAAA 1,.,. -1 -1 -1 -1 -1 -1 UBR4 50_intron 46,.,. 0.456522,.,. UBR4/intron/ 1.0000 0.2085 0.2420 0 dominant HG002 HG002 chr1:19194971:T:A 1,.,. -1 -1 -1 -1 -1 -1 UBR4 50_intron 46,.,. 0.5,.,. UBR4/intron/ 1.0000 0.2085 0.2420 0 dominant HG002 HG002 chr1:19451336:G:C 1,.,. 2.62912e-05 0 4 -1 -1 -1 CAPZB 50_intron 30,.,. 0.466667,.,. CAPZB/intron/;CAPZB/non_coding/ 0.9999 0.0467 0.2210 0 dominant HG002 HG002 chr1:19498567:GCTGCAGCCTTGACCT:G 1,.,. -1 -1 -1 -1 -1 -1 MICOS10 50_intron 30,.,. 0.566667,.,. MICOS10/intron/ 0.1424 0.5513 1.3980 7 dominant HG002 HG002 chr1:19498583:C:A 1,.,. -1 -1 -1 -1 -1 -1 MICOS10 50_intron 31,.,. 0.580645,.,. MICOS10/intron/ 0.1424 0.5513 1.3980 7 dominant HG002 HG002 chr1:19748823:C:CGAATGAAT 1,.,. -1 -1 -1 -1 -1 -1 TMCO4 50_intron 31,.,. 0.322581,.,. TMCO4/intron/;TMCO4/non_coding/ 0.0000 0.8427 1.0530 5 dominant HG002 HG002 chr1:19765446:C:T 1,.,. -1 -1 -1 -1 -1 -1 TMCO4 50_intron 25,.,. 0.32,.,. TMCO4/intron/;TMCO4/non_coding/ 0.0000 0.8427 1.0530 5 dominant HG002 HG002 chr1:19765447:C:G 1,.,. -1 -1 -1 -1 -1 -1 TMCO4 50_intron 25,.,. 0.32,.,. TMCO4/intron/;TMCO4/non_coding/ 0.0000 0.8427 1.0530 5 dominant HG002 HG002 chr1:19765448:TAGAGGACA:T 1,.,. -1 -1 -1 -1 -1 -1 TMCO4 50_intron 25,.,. 0.32,.,. TMCO4/intron/;TMCO4/non_coding/ 0.0000 0.8427 1.0530 5 dominant HG002 HG002 chr1:19765457:T:C 1,.,. 7.66342e-05 0 2 -1 -1 -1 TMCO4 50_intron 25,.,. 0.32,.,. TMCO4/intron/;TMCO4/non_coding/ 0.0000 0.8427 1.0530 5 dominant HG002 HG002 chr1:20514298:T:A 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.470588,.,. dominant HG002 HG002 chr1:20656790:T:C 1,.,. 1.31404e-05 0 2 -1 -1 -1 DDOST 50_intron 22,.,. 0.590909,.,. DDOST/intron/ 0.0008 0.5276 0.7470 3 Congenital disorder of glycosylation type Ir 0.000 dominant HG002 HG002 chr1:21178969:TTA:T 1,.,. -1 -1 -1 0.00105116 0 3 26,.,. 0.5,.,. dominant HG002 HG002 chr1:21575382:C:G 1,.,. -1 -1 -1 -1 -1 -1 ALPL 50_intron 27,.,. 0.333333,.,. ALPL/intron/;ALPL/non_coding/ 0.0000 0.7627 0.9870 5 Hypophosphatasia;Infantile hypophosphatasia;Adult hypophosphatasia;Childhood hypophosphatasia 0.000 dominant HG002 HG002 chr1:21592919:C:A 1,.,. 7.83601e-06 0 1 -1 -1 -1 23,.,. 0.347826,.,. recessive HG002 HG002 chr1:21643126:A:T 2,.,. -1 -1 -1 -1 -1 -1 RAP1GAP 50_intron 26,.,. 1,.,. RAP1GAP/intron/;RAP1GAP/non_coding/ 0.0136 0.4450 0.5930 2 dominant HG002 HG002 chr1:21818159:A:C 1,.,. 5.91891e-05 0 2 0.00105116 0 3 LDLRAD2 50_intron 19,.,. 0.421053,.,. LDLRAD2/intron/ 0.0000 1.0524 1.4600 8 dominant HG002 HG002 chr1:22272323:A:AAAAC 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.347826,.,. recessive HG002 HG002 chr1:22486713:A:G 2,.,. 0.00298445 0 43 -1 -1 -1 ZBTB40 50_intron 34,.,. 1,.,. ZBTB40/intron/ 0.0000 0.4860 0.6030 2 dominant HG002 HG002 chr1:22679232:C:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr1:22790809:C:A 1,.,. -1 -1 -1 -1 -1 -1 EPHB2 50_intron 42,.,. 0.452381,.,. EPHB2/intron/ 1.0000 0.1787 0.2650 0 Prostate cancer/brain cancer susceptibility;Bleeding disorder, platelet-type, 22 0.000 recessive HG002 HG002 chr1:22795496:G:T 2,.,. 0.000825593 0 8 -1 -1 -1 EPHB2 50_intron 38,.,. 1,.,. EPHB2/intron/ 1.0000 0.1787 0.2650 0 Prostate cancer/brain cancer susceptibility;Bleeding disorder, platelet-type, 22 0.000 dominant HG002 HG002 chr1:23030095:C:G 1,.,. -1 -1 -1 -1 -1 -1 KDM1A 50_intron 32,.,. 0.53125,.,. KDM1A/intron/ 0.0034 0.4703 0.6380 2 ACTH-independent macronodular adrenal hyperplasia-3;Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0.000 dominant HG002 HG002 chr1:23117485:C:G 1,.,. -1 -1 -1 0.000700771 0 2 LUZP1 50_intron 39,.,. 0.461538,.,. LUZP1/intron/ 0.9991 0.3250 0.4540 1 0.000 dominant HG002 HG002 chr1:24203111:T:TCCCACACACCCCTGCTG 1,.,. -1 -1 -1 0.00105116 0 3 32,.,. 0.53125,.,. dominant HG002 HG002 chr1:24248174:A:AAT 1,.,. 1.26781e-05 0 1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr1:24298836:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr1:24345157:C:CCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCCCCTCCACACCTGTGCACCTCCACACCTGTGCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCCCCCTTTACACCTGTG 1,.,. -1 -1 -1 -1 -1 -1 GRHL3 50_intron 26,.,. 0.461538,.,. GRHL3/intron/ 0.9999 0.2601 0.4000 0 Van der Woude syndrome 2 0.000 dominant HG002 HG002 chr1:24970967:CGTGTCT:C 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.461538,.,. dominant HG002 HG002 chr1:24994143:C:T 1,.,. 2.62992e-05 0 4 -1 -1 -1 30,.,. 0.633333,.,. dominant HG002 HG002 chr1:25314398:C:T 1,.,. 2.26442e-05 1 3 -1 -1 -1 RSRP1;RHD 50_intron 39,.,. 0.512821,.,. RSRP1/intron/;RHD/non_coding/ 0.0000;;0.0277 1.0547;;0.4817 1.4230;;0.7420 7;;3 BLOOD GROUP, RH SYSTEM;Hemolytic disease of fetus and newborn, RH-induced 0.000 dominant HG002 HG002 chr1:25364267:C:T 1,.,. -1 -1 -1 -1 -1 -1 RHCE 50_intron 48,.,. 0.4375,.,. RHCE/intron/ 0.0225 0.4686 0.6880 2 RH-NULL, AMORPH TYPE 0.000 dominant HG002 HG002 chr1:26175201:C:CTGA 1,.,. 1.97298e-05 0 3 -1 -1 -1 27,.,. 0.555556,.,. dominant HG002 HG002 chr1:26273900:C:CTAAATAAA 1,.,. -1 -1 -1 -1 -1 -1 CEP85 50_intron 25,.,. 0.4,.,. CEP85/intron/;CEP85/non_coding/ 0.0000 0.6193 0.7840 3 dominant HG002 HG002 chr1:26530451:A:G 1,.,. 1.97394e-05 0 3 -1 -1 -1 RPS6KA1 50_intron 16,.,. 0.3125,.,. RPS6KA1/intron/;RPS6KA1/non_coding/ 0.0000 0.5432 0.6940 2 dominant HG002 HG002 chr1:26533740:A:T 1,.,. -1 -1 -1 -1 -1 -1 RPS6KA1 50_intron 19,.,. 0.315789,.,. RPS6KA1/intron/;RPS6KA1/non_coding/ 0.0000 0.5432 0.6940 2 dominant HG002 HG002 chr1:26721158:G:A 1,.,. 1.97246e-05 0 3 -1 -1 -1 ARID1A 50_intron 22,.,. 0.636364,.,. ARID1A/intron/ 1.0000 0.0960 0.1410 0 Intellectual disability, autosomal dominant 14 0.000 recessive HG002 HG002 chr1:26846233:G:T 2,.,. 0.00325311 3 389 0.00420463 1 12 ZDHHC18 50_intron 44,.,. 1,.,. ZDHHC18/intron/ 0.0000 0.6425 0.9100 4 dominant HG002 HG002 chr1:26870930:C:G 1,.,. 1.9946e-05 0 3 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr1:27465200:A:T 1,.,. 2.62819e-05 0 4 -1 -1 -1 WASF2 50_intron 35,.,. 0.6,.,. WASF2/intron/ 0.9963 0.2917 0.4640 1 dominant HG002 HG002 chr1:27512582:G:A 1,.,. 2.6293e-05 0 4 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr1:27696219:ACACTT:A 1,.,. 2.62995e-05 0 4 -1 -1 -1 35,.,. 0.457143,.,. recessive HG002 HG002 chr1:27809313:A:G 2,.,. -1 -1 -1 -1 -1 -1 STX12 50_intron 35,.,. 1,.,. STX12/intron/ 0.8837 0.3263 0.5690 1 recessive HG002 HG002 chr1:27809314:C:A 2,.,. -1 -1 -1 -1 -1 -1 STX12 50_intron 35,.,. 1,.,. STX12/intron/ 0.8837 0.3263 0.5690 1 dominant HG002 HG002 chr1:27895608:G:T 1,.,. -1 -1 -1 -1 -1 -1 RPA2 50_intron 37,.,. 0.513514,.,. RPA2/intron/ 0.0000 0.6851 1.0050 5 dominant HG002 HG002 chr1:28687124:CCAGGA:C 1,.,. -1 -1 -1 -1 -1 -1 GMEB1 50_intron 31,.,. 0.419355,.,. GMEB1/intron/;GMEB1/non_coding/ 1.0000 0.0317 0.1510 0 dominant HG002 HG002 chr1:28861912:T:C 1,.,. 2.34028e-05 0 1 -1 -1 -1 OPRD1 50_intron 28,.,. 0.428571,.,. OPRD1/intron/ 0.0000 0.9645 1.4450 8 dominant HG002 HG002 chr1:28861916:T:C 1,.,. -1 -1 -1 -1 -1 -1 OPRD1 50_intron 28,.,. 0.428571,.,. OPRD1/intron/ 0.0000 0.9645 1.4450 8 dominant HG002 HG002 chr1:28897595:AAGGGAAGGGGAGGGG:A 1,.,. -1 -1 -1 -1 -1 -1 EPB41 50_intron 20,.,. 0.6,.,. EPB41/intron/;EPB41/non_coding/ 0.0000 0.5950 0.7380 2 Elliptocytosis 1 0.000 dominant HG002 HG002 chr1:29190636:A:G 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.5,.,. dominant HG002 HG002 chr1:29453796:T:TCCTCCTC 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.304348,.,. dominant HG002 HG002 chr1:29453811:C:CCTCCTCCTCCTCCTCCCCCCCTCCTT 1,.,. -1 -1 -1 0.00140154 0 4 23,.,. 0.347826,.,. dominant HG002 HG002 chr1:29605296:T:C 1,.,. 1.97145e-05 0 3 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr1:29767809:T:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr1:29864622:C:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr1:29928771:A:AT 1,.,. 2.63564e-05 0 4 -1 -1 -1 25,.,. 0.56,.,. dominant HG002 HG002 chr1:30011218:C:T 1,.,. 4.28706e-05 0 3 -1 -1 -1 26,.,. 0.5,.,. recessive HG002 HG002 chr1:30461979:G:T 2,.,. 0.0156088 2 451 0.00385424 0 11 23,.,. 1,.,. dominant HG002 HG002 chr1:30524542:G:GAGGGT 1,.,. -1 -1 -1 0.00140154 0 4 20,.,. 0.4,.,. dominant HG002 HG002 chr1:30800032:A:AGAGAG 1,.,. -1 -1 -1 -1 -1 -1 15,.,. 0.533333,.,. dominant HG002 HG002 chr1:30894697:A:C 1,.,. -1 -1 -1 0.00105116 0 3 SDC3 50_intron 28,.,. 0.642857,.,. SDC3/intron/ 0.2693 0.4180 0.7290 2 Inherited obesity 0.000 dominant HG002 HG002 chr1:30942209:A:T 1,.,. -1 -1 -1 0.000700771 0 2 PUM1 50_intron 32,.,. 0.34375,.,. PUM1/intron/ 1.0000 0.1041 0.1650 0 Spinocerebellar ataxia 47 0.000 dominant HG002 HG002 chr1:31137065:T:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr1:31203327:G:T 1,.,. -1 -1 -1 -1 -1 -1 NKAIN1 50_intron 25,.,. 0.52,.,. NKAIN1/intron/ 0.0240 0.5011 0.7970 3 dominant HG002 HG002 chr1:31203328:A:G 1,.,. -1 -1 -1 -1 -1 -1 NKAIN1 50_intron 25,.,. 0.52,.,. NKAIN1/intron/ 0.0240 0.5011 0.7970 3 dominant HG002 HG002 chr1:31203329:AGGGGTCACAG:A 1,.,. -1 -1 -1 -1 -1 -1 NKAIN1 50_intron 25,.,. 0.52,.,. NKAIN1/intron/ 0.0240 0.5011 0.7970 3 dominant HG002 HG002 chr1:31203341:C:T 1,.,. -1 -1 -1 -1 -1 -1 NKAIN1 50_intron 25,.,. 0.52,.,. NKAIN1/intron/ 0.0240 0.5011 0.7970 3 dominant HG002 HG002 chr1:31203342:A:C 1,.,. -1 -1 -1 -1 -1 -1 NKAIN1 50_intron 25,.,. 0.52,.,. NKAIN1/intron/ 0.0240 0.5011 0.7970 3 dominant HG002 HG002 chr1:31203345:GACAGTGCC:G 1,.,. -1 -1 -1 -1 -1 -1 NKAIN1 50_intron 25,.,. 0.52,.,. NKAIN1/intron/ 0.0240 0.5011 0.7970 3 dominant HG002 HG002 chr1:31534734:A:AAAAC 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.4,.,. dominant HG002 HG002 chr1:31806485:G:A 1,.,. -1 -1 -1 -1 -1 -1 SPOCD1 50_intron 12,.,. 0.666667,.,. SPOCD1/intron/;SPOCD1/non_coding/ 0.0000 0.7118 0.8780 4 dominant HG002 HG002 chr1:31986380:TAATAAAATAAAATAA:T 1,.,. 0.000757576 0 3 -1 -1 -1 21,.,. 0.571429,.,. dominant HG002 HG002 chr1:32166015:C:A 1,.,. -1 -1 -1 -1 -1 -1 KPNA6 50_intron 33,.,. 0.393939,.,. KPNA6/intron/ 1.0000 0.1335 0.2410 0 dominant HG002 HG002 chr1:32636012:G:C 1,.,. -1 -1 -1 -1 -1 -1 ZBTB8OS 50_intron 39,.,. 0.461538,.,. ZBTB8OS/intron/;ZBTB8OS/non_coding/ 0.0236 0.6176 1.1600 6 dominant HG002 HG002 chr1:32726652:T:TTTTTATTTTATTTTA 1,.,. -1 -1 -1 -1 -1 -1 16,.,. 0.5,.,. dominant HG002 HG002 chr1:33154549:T:C 1,.,. -1 -1 -1 -1 -1 -1 TRIM62 50_intron 36,.,. 0.527778,.,. TRIM62/intron/ 0.0000 1.0178 1.3290 7 recessive HG002 HG002 chr1:33180064:A:C 2,.,. -1 -1 -1 -1 -1 -1 TRIM62 50_intron 26,.,. 1,.,. TRIM62/intron/;TRIM62/non_coding/ 0.0000 1.0178 1.3290 7 dominant HG002 HG002 chr1:33710767:CATGGAAACA:C 1,.,. -1 -1 -1 -1 -1 -1 CSMD2 50_intron 33,.,. 0.454545,.,. CSMD2/intron/ 1.0000 0.3105 0.3640 0 dominant HG002 HG002 chr1:33710778:A:G 1,.,. -1 -1 -1 -1 -1 -1 CSMD2 50_intron 33,.,. 0.454545,.,. CSMD2/intron/ 1.0000 0.3105 0.3640 0 dominant HG002 HG002 chr1:33710780:G:A 1,.,. -1 -1 -1 -1 -1 -1 CSMD2 50_intron 33,.,. 0.454545,.,. CSMD2/intron/ 1.0000 0.3105 0.3640 0 dominant HG002 HG002 chr1:33739382:G:C 1,.,. -1 -1 -1 -1 -1 -1 CSMD2 50_intron 43,.,. 0.44186,.,. CSMD2/intron/ 1.0000 0.3105 0.3640 0 dominant HG002 HG002 chr1:33759304:A:G 1,.,. -1 -1 -1 -1 -1 -1 CSMD2 50_intron 34,.,. 0.411765,.,. CSMD2/intron/ 1.0000 0.3105 0.3640 0 recessive HG002 HG002 chr1:33837463:G:GAT 2,.,. -1 -1 -1 -1 -1 -1 CSMD2 50_intron 28,.,. 1,.,. CSMD2/intron/ 1.0000 0.3105 0.3640 0 recessive HG002 HG002 chr1:33837465:T:C 2,.,. -1 -1 -1 -1 -1 -1 CSMD2 50_intron 29,.,. 1,.,. CSMD2/intron/ 1.0000 0.3105 0.3640 0 dominant HG002 HG002 chr1:34087255:T:C 1,.,. 1.97488e-05 0 3 -1 -1 -1 CSMD2 50_intron 36,.,. 0.5,.,. CSMD2/intron/ 1.0000 0.3105 0.3640 0 dominant HG002 HG002 chr1:34256808:C:CTGAA 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr1:34447283:TTGCTTG:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr1:34476943:TGAACCCCA:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr1:34476952:A:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr1:34978924:A:G 1,.,. -1 -1 -1 -1 -1 -1 AC114490.3 50_intron 29,.,. 0.275862,.,. AC114490.3/intron/ dominant HG002 HG002 chr1:35383864:G:A 1,.,. -1 -1 -1 -1 -1 -1 ZMYM4 50_intron 52,.,. 0.538462,.,. ZMYM4/intron/ 1.0000 0.1652 0.2250 0 dominant HG002 HG002 chr1:35446539:G:A 1,.,. 1.31537e-05 0 2 -1 -1 -1 KIAA0319L 50_intron 35,.,. 0.628571,.,. KIAA0319L/intron/;KIAA0319L/non_coding/ 0.0001 0.4772 0.6100 2 0.000 dominant HG002 HG002 chr1:36675949:TAACAATGA:T 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.416667,.,. dominant HG002 HG002 chr1:36675958:G:C 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.416667,.,. dominant HG002 HG002 chr1:36840569:A:G 1,.,. -1 -1 -1 -1 -1 -1 GRIK3 50_intron 26,.,. 0.5,.,. GRIK3/intron/ 1.0000 0.2752 0.3960 0 dominant HG002 HG002 chr1:37335468:T:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr1:37429636:T:TCTCTCTCTCCCCCTTTCCTCTCTCTCTCCCCCTTTC 1,.,. -1 -1 -1 0.00105116 0 3 23,.,. 0.521739,.,. dominant HG002 HG002 chr1:37519376:G:T 1,.,. 1.00503e-05 0 1 -1 -1 -1 26,.,. 0.423077,.,. dominant HG002 HG002 chr1:37756485:C:G 1,.,. -1 -1 -1 -1 -1 -1 EPHA10 50_intron 43,.,. 0.44186,.,. EPHA10/non_coding/;EPHA10/intron/ 0.0000 1.2724 1.4810 8 Hearing loss, autosomal dominant 88 dominant HG002 HG002 chr1:37756486:A:ATTCAG 1,.,. -1 -1 -1 -1 -1 -1 EPHA10 50_intron 43,.,. 0.44186,.,. EPHA10/non_coding/;EPHA10/intron/ 0.0000 1.2724 1.4810 8 Hearing loss, autosomal dominant 88 dominant HG002 HG002 chr1:37932152:C:G 1,.,. 2.5961e-05 0 3 -1 -1 -1 INPP5B 50_intron 26,.,. 0.5,.,. INPP5B/intron/ 0.0000 0.7764 0.9590 4 dominant HG002 HG002 chr1:37932153:G:A 1,.,. -1 -1 -1 -1 -1 -1 INPP5B 50_intron 26,.,. 0.5,.,. INPP5B/intron/ 0.0000 0.7764 0.9590 4 dominant HG002 HG002 chr1:37932154:C:G 1,.,. -1 -1 -1 -1 -1 -1 INPP5B 50_intron 26,.,. 0.5,.,. INPP5B/intron/ 0.0000 0.7764 0.9590 4 dominant HG002 HG002 chr1:37932156:C:A 1,.,. -1 -1 -1 -1 -1 -1 INPP5B 50_intron 26,.,. 0.5,.,. INPP5B/intron/ 0.0000 0.7764 0.9590 4 dominant HG002 HG002 chr1:37932159:AAGGGTT:A 1,.,. -1 -1 -1 -1 -1 -1 INPP5B 50_intron 26,.,. 0.461538,.,. INPP5B/intron/ 0.0000 0.7764 0.9590 4 dominant HG002 HG002 chr1:37991081:A:AAAAAGT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.351351,.,. dominant HG002 HG002 chr1:37991085:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr1:38298033:C:G 1,.,. 1.31454e-05 0 2 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr1:38359083:A:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr1:38359084:A:T 1,.,. 1.14498e-05 0 1 -1 -1 -1 29,.,. 0.586207,.,. dominant HG002 HG002 chr1:38359085:A:T 1,.,. 1.14519e-05 0 1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr1:38359086:G:T 1,.,. 1.14558e-05 0 1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr1:38359089:C:T 1,.,. 1.14477e-05 0 1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr1:38359090:TGGACTGG:T 1,.,. 1.14265e-05 0 1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr1:38787603:T:A 1,.,. 1.31484e-05 0 2 -1 -1 -1 49,.,. 0.591837,.,. dominant HG002 HG002 chr1:39188450:G:C 1,.,. 1.97244e-05 0 3 -1 -1 -1 MACF1 50_intron 50,.,. 0.6,.,. MACF1/intron/;MACF1/non_coding/ 1.0000 0.2099 0.2380 0 Lissencephaly 9 with complex brainstem malformation 0.000 recessive HG002 HG002 chr1:39518968:C:CCTAGT 2,.,. -1 -1 -1 -1 -1 -1 BMP8A 50_intron 31,.,. 1,.,. BMP8A/intron/ 0.0005 0.8084 1.3370 7 recessive HG002 HG002 chr1:39518969:A:C 2,.,. -1 -1 -1 -1 -1 -1 BMP8A 50_intron 31,.,. 1,.,. BMP8A/intron/ 0.0005 0.8084 1.3370 7 dominant HG002 HG002 chr1:39687912:A:C 1,.,. -1 -1 -1 -1 -1 -1 HPCAL4 50_intron 31,.,. 0.612903,.,. HPCAL4/intron/ 0.0000 0.8463 1.2850 7 dominant HG002 HG002 chr1:39725286:G:A 1,.,. -1 -1 -1 -1 -1 -1 PPIE 50_intron 21,.,. 0.238095,.,. PPIE/intron/ 0.0025 0.5260 0.7720 3 dominant HG002 HG002 chr1:39725288:G:T 1,.,. -1 -1 -1 -1 -1 -1 PPIE 50_intron 22,.,. 0.272727,.,. PPIE/intron/ 0.0025 0.5260 0.7720 3 dominant HG002 HG002 chr1:39763534:C:CACA 1,.,. -1 -1 -1 -1 -1 -1 PPIE 50_intron 28,.,. 0.571429,.,. PPIE/intron/;PPIE/non_coding/ 0.0025 0.5260 0.7720 3 dominant HG002 HG002 chr1:39763542:A:C 1,.,. -1 -1 -1 -1 -1 -1 PPIE 50_intron 27,.,. 0.555556,.,. PPIE/intron/;PPIE/non_coding/ 0.0025 0.5260 0.7720 3 dominant HG002 HG002 chr1:39763545:A:C 1,.,. -1 -1 -1 -1 -1 -1 PPIE 50_intron 28,.,. 0.571429,.,. PPIE/intron/;PPIE/non_coding/ 0.0025 0.5260 0.7720 3 dominant HG002 HG002 chr1:39979064:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr1:40267011:G:T 1,.,. -1 -1 -1 -1 -1 -1 ZMPSTE24 50_intron 43,.,. 0.44186,.,. ZMPSTE24/intron/;ZMPSTE24/non_coding/ 0.0000 0.8392 1.0790 5 Restrictive dermopathy 1;Mandibuloacral dysplasia with type B lipodystrophy 0.000 dominant HG002 HG002 chr1:40267012:C:G 1,.,. -1 -1 -1 -1 -1 -1 ZMPSTE24 50_intron 43,.,. 0.44186,.,. ZMPSTE24/intron/;ZMPSTE24/non_coding/ 0.0000 0.8392 1.0790 5 Restrictive dermopathy 1;Mandibuloacral dysplasia with type B lipodystrophy 0.000 dominant HG002 HG002 chr1:40267013:C:CTT 1,.,. -1 -1 -1 -1 -1 -1 ZMPSTE24 50_intron 43,.,. 0.44186,.,. ZMPSTE24/intron/;ZMPSTE24/non_coding/ 0.0000 0.8392 1.0790 5 Restrictive dermopathy 1;Mandibuloacral dysplasia with type B lipodystrophy 0.000 dominant HG002 HG002 chr1:40464143:G:A 1,.,. -1 -1 -1 0.00140154 0 4 44,.,. 0.659091,.,. dominant HG002 HG002 chr1:41495645:C:G 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.44,.,. dominant HG002 HG002 chr1:41791610:G:GAT 1,.,. -1 -1 -1 -1 -1 -1 HIVEP3 50_intron 40,.,. 0.525,.,. HIVEP3/intron/ 1.0000 0.3312 0.4170 1 dominant HG002 HG002 chr1:41791612:A:T 1,.,. -1 -1 -1 -1 -1 -1 HIVEP3 50_intron 40,.,. 0.525,.,. HIVEP3/intron/ 1.0000 0.3312 0.4170 1 recessive HG002 HG002 chr1:41845203:C:CATAACTTATTT 2,.,. -1 -1 -1 -1 -1 -1 HIVEP3 50_intron 39,.,. 1,.,. HIVEP3/intron/ 1.0000 0.3312 0.4170 1 recessive HG002 HG002 chr1:41845205:A:T 2,.,. 6.58848e-06 0 1 -1 -1 -1 HIVEP3 50_intron 40,.,. 1,.,. HIVEP3/intron/ 1.0000 0.3312 0.4170 1 dominant HG002 HG002 chr1:41888105:A:G 1,.,. -1 -1 -1 -1 -1 -1 HIVEP3 50_intron 32,.,. 0.5625,.,. HIVEP3/intron/;HIVEP3/non_coding/ 1.0000 0.3312 0.4170 1 dominant HG002 HG002 chr1:42078752:ATAAT:A 1,.,. 2.08733e-05 0 1 -1 -1 -1 55,.,. 0.418182,.,. dominant HG002 HG002 chr1:42082810:C:T 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.421053,.,. dominant HG002 HG002 chr1:42751568:A:AAAAT 1,.,. 3.36278e-05 0 3 -1 -1 -1 P3H1 50_intron 23,.,. 0.521739,.,. P3H1/intron/;P3H1/non_coding/ 0.0000 0.8658 1.0490 5 Osteogenesis imperfecta type 8 0.000 dominant HG002 HG002 chr1:43142264:AACACACACACACACACAC:A 1,.,. 3.83789e-05 0 1 0.000700771 0 2 29,.,. 0.517241,.,. dominant HG002 HG002 chr1:43172563:G:GGGGGAGGGGAAA 1,.,. 1.0557e-05 0 1 -1 -1 -1 EBNA1BP2 35_5_prime_utr 29,.,. 0.310345,.,. EBNA1BP2/5_prime_utr/ENST00000431635 0.0000 0.7591 1.0060 5 dominant HG002 HG002 chr1:43351234:T:C 1,.,. 2.6284e-05 0 4 -1 -1 -1 MPL 50_intron 28,.,. 0.464286,.,. MPL/intron/ 0.0000 0.8409 1.0220 5 Thrombocythemia 2;Congenital amegakaryocytic thrombocytopenia 1;Primary myelofibrosis 0.000 dominant HG002 HG002 chr1:44186344:T:G 1,.,. 1.32175e-05 0 2 -1 -1 -1 30,.,. 0.333333,.,. dominant HG002 HG002 chr1:44355649:C:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr1:44746764:AC:A 1,.,. 6.5703e-06 0 1 -1 -1 -1 KIF2C 20_splice_region 27,.,. 0.62963,.,. KIF2C/splice_region/ENST00000372217 0.9999 0.3110 0.4320 1 dominant HG002 HG002 chr1:45270989:A:G 1,.,. 1.97138e-05 0 3 -1 -1 -1 ZSWIM5 53_non_coding 43,.,. 0.55814,.,. ZSWIM5/non_coding/ 0.0004 0.4578 0.5770 1 dominant HG002 HG002 chr1:45520305:CCATTTGTGA:C 1,.,. -1 -1 -1 -1 -1 -1 PRDX1 50_intron 26,.,. 0.384615,.,. PRDX1/intron/;PRDX1/non_coding/ 0.0000 0.9013 1.3220 7 Cobalamin C disease 0.000 dominant HG002 HG002 chr1:45520316:G:A 1,.,. -1 -1 -1 -1 -1 -1 PRDX1 50_intron 26,.,. 0.384615,.,. PRDX1/intron/;PRDX1/non_coding/ 0.0000 0.9013 1.3220 7 Cobalamin C disease 0.000 dominant HG002 HG002 chr1:45520317:G:A 1,.,. -1 -1 -1 -1 -1 -1 PRDX1 50_intron 26,.,. 0.384615,.,. PRDX1/intron/;PRDX1/non_coding/ 0.0000 0.9013 1.3220 7 Cobalamin C disease 0.000 dominant HG002 HG002 chr1:45724854:TC:T 1,.,. 1.33711e-05 0 2 -1 -1 -1 IPP 50_intron 28,.,. 0.428571,.,. IPP/intron/ 0.0000 0.7014 0.9560 4 dominant HG002 HG002 chr1:45781264:C:G 1,.,. 1.31565e-05 0 2 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr1:45788628:C:A 1,.,. -1 -1 -1 -1 -1 -1 MAST2 53_non_coding 30,.,. 0.5,.,. MAST2/non_coding/ 0.0000 0.4711 0.5760 1 dominant HG002 HG002 chr1:46343196:C:T 1,.,. -1 -1 -1 -1 -1 -1 NSUN4 30_synonymous 24,.,. 0.666667,.,. NSUN4/synonymous/ENST00000498008 0.0000 0.6881 0.9290 4 dominant HG002 HG002 chr1:46422701:G:C 1,.,. 1.97171e-05 0 3 -1 -1 -1 22,.,. 0.5,.,. recessive HG002 HG002 chr1:46556896:GCACTTTAGTGCC:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr1:46556913:T:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr1:46556914:T:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chr1:46978216:G:C 1,.,. 1.31536e-05 0 2 -1 -1 -1 23,.,. 0.391304,.,. recessive HG002 HG002 chr1:47187205:C:A 2,.,. -1 -1 -1 -1 -1 -1 PDZK1IP1 50_intron 20,.,. 1,.,. PDZK1IP1/intron/;PDZK1IP1/non_coding/ 0.0069 0.6540 1.1410 6 recessive HG002 HG002 chr1:47244877:A:ATTTTCAG 2,.,. 6.58857e-06 0 1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr1:47244878:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr1:47502453:A:AAAT 2,.,. 0.000144732 0 3 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr1:47909849:G:C 2,.,. -1 -1 -1 0.00350385 0 10 TRABD2B 50_intron 29,.,. 1,.,. TRABD2B/intron/;TRABD2B/non_coding/ 0.1075 0.4466 0.7100 2 recessive HG002 HG002 chr1:47909850:G:T 2,.,. -1 -1 -1 0.00385424 0 11 TRABD2B 50_intron 29,.,. 1,.,. TRABD2B/intron/;TRABD2B/non_coding/ 0.1075 0.4466 0.7100 2 recessive HG002 HG002 chr1:47909853:T:C 2,.,. -1 -1 -1 0.00350385 1 10 TRABD2B 50_intron 30,.,. 1,.,. TRABD2B/intron/;TRABD2B/non_coding/ 0.1075 0.4466 0.7100 2 dominant HG002 HG002 chr1:48174362:G:GGGGGCAGCCCCCGCC 1,.,. -1 -1 -1 -1 -1 -1 SKINT1L 53_non_coding 42,.,. 0.333333,.,. SKINT1L/non_coding/ dominant HG002 HG002 chr1:48483373:T:A 1,.,. 3.76279e-05 1 2 0.000700771 0 2 21,.,. 0.571429,.,. dominant HG002 HG002 chr1:48510209:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr1:49756959:A:G 1,.,. -1 -1 -1 -1 -1 -1 AGBL4 50_intron 50,.,. 0.48,.,. AGBL4/intron/;AGBL4/non_coding/ 0.0000 0.8726 1.1070 6 dominant HG002 HG002 chr1:49811052:G:A 1,.,. -1 -1 -1 -1 -1 -1 AGBL4 50_intron 33,.,. 0.454545,.,. AGBL4/intron/;AGBL4/non_coding/ 0.0000 0.8726 1.1070 6 dominant HG002 HG002 chr1:51702446:CTTTTGA:C 1,.,. -1 -1 -1 -1 -1 -1 OSBPL9 50_intron 35,.,. 0.485714,.,. OSBPL9/intron/ 1.0000 0.2932 0.4150 1 dominant HG002 HG002 chr1:51702453:G:A 1,.,. -1 -1 -1 -1 -1 -1 OSBPL9 50_intron 36,.,. 0.472222,.,. OSBPL9/intron/ 1.0000 0.2932 0.4150 1 dominant HG002 HG002 chr1:52181255:G:C 1,.,. -1 -1 -1 -1 -1 -1 ZFYVE9 50_intron 36,.,. 0.583333,.,. ZFYVE9/intron/;ZFYVE9/non_coding/ 1.0000 0.3093 0.4080 1 dominant HG002 HG002 chr1:52449913:A:G 1,.,. -1 -1 -1 -1 -1 -1 TUT4 50_intron 37,.,. 0.513514,.,. TUT4/intron/;TUT4/non_coding/ 1.0000 0.1748 0.2410 0 dominant HG002 HG002 chr1:53643837:T:C 1,.,. -1 -1 -1 -1 -1 -1 GLIS1 50_intron 26,.,. 0.346154,.,. GLIS1/intron/ 0.1404 0.4236 0.6000 2 dominant HG002 HG002 chr1:54036591:T:TGGTCTAAG 1,.,. -1 -1 -1 -1 -1 -1 TMEM59 50_intron 55,.,. 0.509091,.,. TMEM59/intron/;TMEM59/non_coding/ 0.0000 0.9606 1.3100 7 dominant HG002 HG002 chr1:54036595:A:T 1,.,. -1 -1 -1 -1 -1 -1 TMEM59 50_intron 55,.,. 0.509091,.,. TMEM59/intron/;TMEM59/non_coding/ 0.0000 0.9606 1.3100 7 dominant HG002 HG002 chr1:54266379:T:TAAATAAAGTTTTATTGGAACACAGTGC 1,.,. -1 -1 -1 -1 -1 -1 SSBP3 50_intron 31,.,. 0.387097,.,. SSBP3/non_coding/;SSBP3/intron/ 1.0000 0.0831 0.1750 0 dominant HG002 HG002 chr1:54428694:CAAAAAAAG:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr1:54428705:A:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chr1:54428708:A:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chr1:54493470:A:AAG 1,.,. 2.88484e-05 0 1 -1 -1 -1 25,.,. 0.4,.,. dominant HG002 HG002 chr1:54561075:ATTTTTTAT:A 1,.,. 5.72525e-05 0 4 -1 -1 -1 ACOT11 50_intron 22,.,. 0.363636,.,. ACOT11/non_coding/;ACOT11/intron/ 0.0000 0.8890 1.0880 5 dominant HG002 HG002 chr1:54819928:A:ATT 1,.,. -1 -1 -1 -1 -1 -1 LEXM 50_intron 25,.,. 0.4,.,. LEXM/intron/ 0.0000 0.9400 1.1960 6 dominant HG002 HG002 chr1:54819930:A:C 1,.,. -1 -1 -1 -1 -1 -1 LEXM 50_intron 25,.,. 0.4,.,. LEXM/intron/ 0.0000 0.9400 1.1960 6 dominant HG002 HG002 chr1:54819935:T:C 1,.,. -1 -1 -1 -1 -1 -1 LEXM 50_intron 25,.,. 0.4,.,. LEXM/intron/ 0.0000 0.9400 1.1960 6 recessive HG002 HG002 chr1:55075675:C:A 2,.,. -1 -1 -1 -1 -1 -1 USP24 50_intron 34,.,. 1,.,. USP24/intron/ 1.0000 0.3014 0.3610 0 dominant HG002 HG002 chr1:55357230:ATC:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.638889,.,. dominant HG002 HG002 chr1:55357235:T:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.638889,.,. dominant HG002 HG002 chr1:55357236:T:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.638889,.,. dominant HG002 HG002 chr1:55357237:G:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.638889,.,. recessive HG002 HG002 chr1:55945325:C:T 2,.,. 6.57505e-06 0 1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr1:56051742:ATATG:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr1:56051754:A:G 2,.,. 0.00010285 0 7 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr1:56302183:C:T 1,.,. 6.57436e-06 0 1 -1 -1 -1 AC119674.2 50_intron 33,.,. 0.515152,.,. AC119674.2/intron/ dominant HG002 HG002 chr1:56399199:TCCAGAACATACCAAGTAGGTTCCAGA:T 1,.,. -1 -1 -1 -1 -1 -1 AC119674.2 50_intron 36,.,. 0.388889,.,. AC119674.2/intron/ dominant HG002 HG002 chr1:56399226:A:T 1,.,. -1 -1 -1 -1 -1 -1 AC119674.2 50_intron 34,.,. 0.411765,.,. AC119674.2/intron/ recessive HG002 HG002 chr1:56593076:T:C 2,.,. 0.0107527 0 4 -1 -1 -1 PLPP3 53_non_coding 31,.,. 1,.,. PLPP3/non_coding/ 0.9987 0.2042 0.4030 1 dominant HG002 HG002 chr1:57282214:A:C 1,.,. -1 -1 -1 -1 -1 -1 DAB1 50_intron 42,.,. 0.428571,.,. DAB1/intron/;DAB1/non_coding/ 0.9998 0.2513 0.4070 1 Spinocerebellar ataxia type 37 0.000 dominant HG002 HG002 chr1:57583773:AG:A 1,.,. -1 -1 -1 -1 -1 -1 DAB1 53_non_coding 49,.,. 0.55102,.,. DAB1/non_coding/ 0.9998 0.2513 0.4070 1 Spinocerebellar ataxia type 37 0.000 dominant HG002 HG002 chr1:57583775:T:C 1,.,. -1 -1 -1 -1 -1 -1 DAB1 53_non_coding 49,.,. 0.55102,.,. DAB1/non_coding/ 0.9998 0.2513 0.4070 1 Spinocerebellar ataxia type 37 0.000 dominant HG002 HG002 chr1:57707380:A:G 1,.,. 2.07967e-05 0 3 -1 -1 -1 DAB1 53_non_coding 36,.,. 0.444444,.,. DAB1/non_coding/ 0.9998 0.2513 0.4070 1 Spinocerebellar ataxia type 37 0.000 dominant HG002 HG002 chr1:57895898:C:CT 1,.,. 2.62854e-05 0 4 -1 -1 -1 DAB1 53_non_coding 38,.,. 0.421053,.,. DAB1/non_coding/ 0.9998 0.2513 0.4070 1 Spinocerebellar ataxia type 37 0.000 dominant HG002 HG002 chr1:57901010:G:C 1,.,. -1 -1 -1 -1 -1 -1 DAB1 53_non_coding 36,.,. 0.527778,.,. DAB1/non_coding/ 0.9998 0.2513 0.4070 1 Spinocerebellar ataxia type 37 0.000 dominant HG002 HG002 chr1:57901012:ACTTTTACATAT:A 1,.,. -1 -1 -1 -1 -1 -1 DAB1 53_non_coding 36,.,. 0.527778,.,. DAB1/non_coding/ 0.9998 0.2513 0.4070 1 Spinocerebellar ataxia type 37 0.000 dominant HG002 HG002 chr1:57901024:G:A 1,.,. -1 -1 -1 -1 -1 -1 DAB1 53_non_coding 36,.,. 0.527778,.,. DAB1/non_coding/ 0.9998 0.2513 0.4070 1 Spinocerebellar ataxia type 37 0.000 dominant HG002 HG002 chr1:57901025:T:A 1,.,. -1 -1 -1 -1 -1 -1 DAB1 53_non_coding 36,.,. 0.527778,.,. DAB1/non_coding/ 0.9998 0.2513 0.4070 1 Spinocerebellar ataxia type 37 0.000 dominant HG002 HG002 chr1:58029690:T:C 1,.,. 2.62864e-05 0 4 -1 -1 -1 DAB1 53_non_coding 51,.,. 0.45098,.,. DAB1/non_coding/ 0.9998 0.2513 0.4070 1 Spinocerebellar ataxia type 37 0.000 dominant HG002 HG002 chr1:58549325:G:T 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.586207,.,. dominant HG002 HG002 chr1:58549328:T:C 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.568965,.,. dominant HG002 HG002 chr1:58549329:C:T 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.568965,.,. dominant HG002 HG002 chr1:59157884:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.365854,.,. dominant HG002 HG002 chr1:59162819:AGTCAGGCAGATTTC:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr1:59162834:A:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr1:59649574:T:C 1,.,. -1 -1 -1 -1 -1 -1 FGGY 50_intron 43,.,. 0.534884,.,. FGGY/intron/;FGGY/non_coding/ 0.0000 0.9460 1.2000 6 dominant HG002 HG002 chr1:60712404:G:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr1:61327032:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 NFIA 50_intron 32,.,. 0.46875,.,. NFIA/intron/;NFIA/non_coding/ 1.0000 0.0830 0.1750 0 Brain malformations with or without urinary tract defects 0.000 dominant HG002 HG002 chr1:61594459:G:GGTTGT 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr1:61594460:C:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr1:61594461:C:G 1,.,. 6.59813e-06 0 1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr1:61594466:T:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr1:61747355:C:CAGCCAGTAAACT 1,.,. -1 -1 -1 -1 -1 -1 PATJ 50_intron 44,.,. 0.454545,.,. PATJ/intron/;PATJ/non_coding/ 0.0000 0.7029 0.8410 3 dominant HG002 HG002 chr1:61747356:G:T 1,.,. -1 -1 -1 -1 -1 -1 PATJ 50_intron 44,.,. 0.454545,.,. PATJ/intron/;PATJ/non_coding/ 0.0000 0.7029 0.8410 3 dominant HG002 HG002 chr1:61952253:T:TGAGAGAGAGAGAGA 1,.,. 7.94609e-06 0 1 -1 -1 -1 PATJ 35_5_prime_utr 34,.,. 0.352941,.,. PATJ/5_prime_utr/ENST00000646453;PATJ/5_prime_utr/ENST00000635137 0.0000 0.7029 0.8410 3 dominant HG002 HG002 chr1:62091980:C:T 1,.,. 2.03542e-05 0 3 -1 -1 -1 PATJ 50_intron 30,.,. 0.433333,.,. PATJ/intron/;PATJ/non_coding/ 0.0000 0.7029 0.8410 3 dominant HG002 HG002 chr1:62250715:ATAATTAACG:A 1,.,. -1 -1 -1 -1 -1 -1 KANK4 50_intron 34,.,. 0.529412,.,. KANK4/intron/ 0.0000 0.6501 0.8290 3 dominant HG002 HG002 chr1:62250726:A:G 1,.,. -1 -1 -1 -1 -1 -1 KANK4 50_intron 33,.,. 0.515152,.,. KANK4/intron/ 0.0000 0.6501 0.8290 3 dominant HG002 HG002 chr1:62699564:C:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr1:62801994:G:A 1,.,. -1 -1 -1 -1 -1 -1 ATG4C 50_intron 37,.,. 0.486486,.,. ATG4C/intron/ 0.0000 0.9304 1.2340 6 dominant HG002 HG002 chr1:63027368:G:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.484848,.,. recessive HG002 HG002 chr1:63602609:T:C 2,.,. -1 -1 -1 -1 -1 -1 PGM1 50_intron 32,.,. 1,.,. PGM1/intron/ 0.0000 0.9414 1.1890 6 PGM1-congenital disorder of glycosylation 0.000 recessive HG002 HG002 chr1:63602610:G:A 2,.,. -1 -1 -1 -1 -1 -1 PGM1 50_intron 32,.,. 1,.,. PGM1/intron/ 0.0000 0.9414 1.1890 6 PGM1-congenital disorder of glycosylation 0.000 recessive HG002 HG002 chr1:63602611:A:T 2,.,. -1 -1 -1 -1 -1 -1 PGM1 50_intron 32,.,. 1,.,. PGM1/intron/ 0.0000 0.9414 1.1890 6 PGM1-congenital disorder of glycosylation 0.000 recessive HG002 HG002 chr1:63602612:A:C 2,.,. -1 -1 -1 -1 -1 -1 PGM1 50_intron 32,.,. 1,.,. PGM1/intron/ 0.0000 0.9414 1.1890 6 PGM1-congenital disorder of glycosylation 0.000 recessive HG002 HG002 chr1:63602613:TTGAA:T 2,.,. -1 -1 -1 -1 -1 -1 PGM1 50_intron 32,.,. 1,.,. PGM1/intron/ 0.0000 0.9414 1.1890 6 PGM1-congenital disorder of glycosylation 0.000 dominant HG002 HG002 chr1:63709536:A:AAGAAAGAAAGAAAAAG 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.351351,.,. recessive HG002 HG002 chr1:64192222:T:TGGCCATG 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr1:64192223:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr1:64194157:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr1:64194158:A:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr1:64194159:G:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr1:64194161:CACCTCTAGACACCTTCT:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr1:64434259:T:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr1:64518228:A:G 1,.,. -1 -1 -1 -1 -1 -1 CACHD1 50_intron 34,.,. 0.5,.,. CACHD1/intron/;CACHD1/non_coding/ 0.0000 0.5044 0.6330 2 recessive HG002 HG002 chr1:65177244:C:T 2,.,. -1 -1 -1 -1 -1 -1 AK4 50_intron 44,.,. 1,.,. AK4/intron/;AK4/non_coding/ 0.0102 0.5689 0.9420 4 recessive HG002 HG002 chr1:65177245:T:C 2,.,. -1 -1 -1 -1 -1 -1 AK4 50_intron 44,.,. 1,.,. AK4/intron/;AK4/non_coding/ 0.0102 0.5689 0.9420 4 recessive HG002 HG002 chr1:65177247:A:G 2,.,. -1 -1 -1 -1 -1 -1 AK4 50_intron 44,.,. 1,.,. AK4/intron/;AK4/non_coding/ 0.0102 0.5689 0.9420 4 recessive HG002 HG002 chr1:65397272:G:GATTGCCCACCTGC 2,.,. -1 -1 -1 -1 -1 -1 DNAJC6 50_intron 45,.,. 1,.,. DNAJC6/intron/ 1.0000 0.3110 0.4160 1 Juvenile onset Parkinson disease 19A 0.000 recessive HG002 HG002 chr1:65397274:C:A 2,.,. -1 -1 -1 -1 -1 -1 DNAJC6 50_intron 46,.,. 1,.,. DNAJC6/intron/ 1.0000 0.3110 0.4160 1 Juvenile onset Parkinson disease 19A 0.000 dominant HG002 HG002 chr1:65560657:T:G 1,.,. -1 -1 -1 0.00105116 1 3 LEPR 50_intron 32,.,. 0.40625,.,. LEPR/intron/;LEPR/non_coding/ 0.0001 0.4686 0.5890 2 Obesity due to leptin receptor gene deficiency 0.000 dominant HG002 HG002 chr1:65563092:C:T 1,.,. -1 -1 -1 0.00140154 1 4 LEPR 50_intron 35,.,. 0.514286,.,. LEPR/intron/;LEPR/non_coding/ 0.0001 0.4686 0.5890 2 Obesity due to leptin receptor gene deficiency 0.000 dominant HG002 HG002 chr1:65563287:G:A 1,.,. -1 -1 -1 0.00140154 1 4 LEPR 50_intron 35,.,. 0.514286,.,. LEPR/intron/;LEPR/non_coding/ 0.0001 0.4686 0.5890 2 Obesity due to leptin receptor gene deficiency 0.000 dominant HG002 HG002 chr1:65564405:T:A 1,.,. -1 -1 -1 0.00105116 1 3 LEPR 50_intron 33,.,. 0.484848,.,. LEPR/intron/;LEPR/non_coding/ 0.0001 0.4686 0.5890 2 Obesity due to leptin receptor gene deficiency 0.000 dominant HG002 HG002 chr1:65630427:G:A 1,.,. -1 -1 -1 -1 -1 -1 LEPR 50_intron 37,.,. 0.378378,.,. LEPR/intron/ 0.0001 0.4686 0.5890 2 Obesity due to leptin receptor gene deficiency 0.000 dominant HG002 HG002 chr1:65665298:CATGTGTGTGTAT:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr1:65739891:TTG:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr1:65739894:T:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr1:65968467:T:C 1,.,. -1 -1 -1 -1 -1 -1 PDE4B 50_intron 46,.,. 0.413043,.,. PDE4B/intron/ 1.0000 0.2392 0.3740 0 dominant HG002 HG002 chr1:66096520:A:G 1,.,. -1 -1 -1 0.000700771 0 2 PDE4B 50_intron 48,.,. 0.395833,.,. PDE4B/intron/;PDE4B/non_coding/ 1.0000 0.2392 0.3740 0 dominant HG002 HG002 chr1:66352762:T:C 1,.,. 2.62816e-05 0 4 -1 -1 -1 PDE4B 50_intron 48,.,. 0.541667,.,. PDE4B/intron/ 1.0000 0.2392 0.3740 0 dominant HG002 HG002 chr1:66396026:T:TAAGGTCAA 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.52,.,. dominant HG002 HG002 chr1:66396028:G:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.52,.,. dominant HG002 HG002 chr1:66396030:G:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.52,.,. dominant HG002 HG002 chr1:66431321:T:TTTTTG 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr1:66445225:T:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr1:66445227:T:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr1:66624844:CTATGGAACATGTG:C 1,.,. -1 -1 -1 -1 -1 -1 SGIP1 50_intron 44,.,. 0.477273,.,. SGIP1/intron/;SGIP1/non_coding/ 0.9999 0.3125 0.4310 1 dominant HG002 HG002 chr1:66624859:G:A 1,.,. -1 -1 -1 -1 -1 -1 SGIP1 50_intron 44,.,. 0.477273,.,. SGIP1/intron/;SGIP1/non_coding/ 0.9999 0.3125 0.4310 1 dominant HG002 HG002 chr1:66802114:T:C 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.490566,.,. dominant HG002 HG002 chr1:67197948:G:A 1,.,. -1 -1 -1 -1 -1 -1 C1orf141 50_intron 53,.,. 0.45283,.,. C1orf141/intron/ 0.0022 1.2652 1.8950 9 dominant HG002 HG002 chr1:67283852:T:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr1:67372074:G:GTGTGTGTC 1,.,. -1 -1 -1 -1 -1 -1 IL12RB2 50_intron 39,.,. 0.384615,.,. IL12RB2/intron/ 0.0000 0.7390 1.0130 5 dominant HG002 HG002 chr1:67555655:CGGG:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr1:67555659:A:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr1:67555660:G:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr1:67637480:C:CGTCT 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr1:67665327:T:C 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.576923,.,. recessive HG002 HG002 chr1:67942899:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr1:67942905:C:A 2,.,. 9.87752e-05 0 1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr1:67942906:C:T 2,.,. 9.8912e-05 0 1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr1:68113308:C:T 1,.,. 6.57739e-06 0 1 -1 -1 -1 WLS 50_intron 38,.,. 0.5,.,. WLS/intron/ 0.9950 0.3270 0.4750 1 Zaki syndrome 0.000 dominant HG002 HG002 chr1:68133048:GCAGCAGCAACAGCAA:G 1,.,. 5.6058e-05 0 3 -1 -1 -1 WLS 50_intron 41,.,. 0.536585,.,. WLS/intron/;WLS/non_coding/ 0.9950 0.3270 0.4750 1 Zaki syndrome 0.000 dominant HG002 HG002 chr1:68133065:A:G 1,.,. -1 -1 -1 -1 -1 -1 WLS 50_intron 42,.,. 0.52381,.,. WLS/intron/;WLS/non_coding/ 0.9950 0.3270 0.4750 1 Zaki syndrome 0.000 recessive HG002 HG002 chr1:68287548:C:T 2,.,. 0.000175306 2 25 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr1:69206329:C:A 1,.,. 6.61e-06 0 1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr1:69883681:T:C 1,.,. -1 -1 -1 0.00105116 0 3 LRRC7 50_intron 49,.,. 0.408163,.,. LRRC7/intron/;LRRC7/non_coding/ 1.0000 0.1336 0.2030 0 dominant HG002 HG002 chr1:69883989:C:A 1,.,. -1 -1 -1 0.00105116 0 3 LRRC7 50_intron 50,.,. 0.42,.,. LRRC7/intron/;LRRC7/non_coding/ 1.0000 0.1336 0.2030 0 dominant HG002 HG002 chr1:69884097:G:A 1,.,. -1 -1 -1 0.00105116 0 3 LRRC7 50_intron 49,.,. 0.408163,.,. LRRC7/intron/;LRRC7/non_coding/ 1.0000 0.1336 0.2030 0 recessive HG002 HG002 chr1:70398951:A:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr1:70398953:C:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr1:70398954:G:A 2,.,. 6.59178e-06 0 1 0.000700771 0 2 42,.,. 1,.,. dominant HG002 HG002 chr1:70622435:G:A 1,.,. 6.57047e-06 0 1 -1 -1 -1 41,.,. 0.609756,.,. dominant HG002 HG002 chr1:71208121:A:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.333333,.,. dominant HG002 HG002 chr1:71266197:TATTTAGTC:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr1:71266208:T:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr1:71363192:G:C 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.45098,.,. dominant HG002 HG002 chr1:71503975:C:T 1,.,. -1 -1 -1 -1 -1 -1 NEGR1 50_intron 45,.,. 0.555556,.,. NEGR1/intron/ 0.9956 0.2039 0.4290 1 dominant HG002 HG002 chr1:71532905:T:G 1,.,. 6.59648e-06 0 1 -1 -1 -1 NEGR1 50_intron 41,.,. 0.658537,.,. NEGR1/intron/ 0.9956 0.2039 0.4290 1 recessive HG002 HG002 chr1:71673444:A:C 2,.,. -1 -1 -1 -1 -1 -1 NEGR1 50_intron 54,.,. 1,.,. NEGR1/intron/ 0.9956 0.2039 0.4290 1 recessive HG002 HG002 chr1:71673445:T:TTGTATACACAGGA 2,.,. -1 -1 -1 -1 -1 -1 NEGR1 50_intron 54,.,. 1,.,. NEGR1/intron/ 0.9956 0.2039 0.4290 1 dominant HG002 HG002 chr1:71756407:C:A 1,.,. -1 -1 -1 0.000700771 0 2 NEGR1 50_intron 34,.,. 0.352941,.,. NEGR1/intron/;NEGR1/non_coding/ 0.9956 0.2039 0.4290 1 recessive HG002 HG002 chr1:72115213:T:A 2,.,. 7.93819e-05 0 12 -1 -1 -1 NEGR1 50_intron 38,.,. 1,.,. NEGR1/intron/ 0.9956 0.2039 0.4290 1 recessive HG002 HG002 chr1:72312555:C:CCTCATATATATGTCCTCATATATATATATT 2,.,. -1 -1 -1 0.000700771 0 2 20,.,. 1,.,. dominant HG002 HG002 chr1:72612308:T:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. recessive HG002 HG002 chr1:73183125:ATG:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr1:73463110:ACT:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.594595,.,. dominant HG002 HG002 chr1:73463113:A:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr1:73508831:GAACCCT:G 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.62,.,. dominant HG002 HG002 chr1:73508838:C:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.62,.,. dominant HG002 HG002 chr1:73716474:T:TTCAATGTCTCATTACCAGCTTCTGCTCCTCTTGCAAACTTCTCAGAGAGTGTTTCACTTC 1,.,. -1 -1 -1 0.00105116 0 3 54,.,. 0.5,.,. dominant HG002 HG002 chr1:74026219:C:T 1,.,. -1 -1 -1 -1 -1 -1 LRRIQ3 36_3_prime_utr 33,.,. 0.575758,.,. LRRIQ3/3_prime_utr/ENST00000417067;LRRIQ3/3_prime_utr/ENST00000395089;LRRIQ3/3_prime_utr/ENST00000354431 0.0000 1.2635 1.6020 8 dominant HG002 HG002 chr1:74616302:G:C 1,.,. -1 -1 -1 -1 -1 -1 ERICH3 50_intron 36,.,. 0.5,.,. ERICH3/intron/ 0.0000 0.9560 1.1190 6 recessive HG002 HG002 chr1:74701070:A:T 2,.,. 0.00388601 0 3 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr1:74701071:ACTAG:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr1:74951143:G:GACCGTGTCCTTA 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr1:74951144:G:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. recessive HG002 HG002 chr1:75114314:G:A 2,.,. 0.000123762 0 5 0.00105116 0 3 44,.,. 1,.,. dominant HG002 HG002 chr1:75561821:A:G 1,.,. 2.62885e-05 0 4 -1 -1 -1 SLC44A5 50_intron 38,.,. 0.473684,.,. SLC44A5/intron/;SLC44A5/non_coding/ 0.0000 0.6346 0.8650 3 dominant HG002 HG002 chr1:75615426:C:CACATACAT 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.375,.,. recessive HG002 HG002 chr1:76282269:TTAGGGACACATATTCA:T 2,.,. -1 -1 -1 -1 -1 -1 ST6GALNAC3 50_intron 40,.,. 1,.,. ST6GALNAC3/intron/ 0.0000 0.6839 0.9940 5 recessive HG002 HG002 chr1:76282289:C:A 2,.,. -1 -1 -1 -1 -1 -1 ST6GALNAC3 50_intron 40,.,. 1,.,. ST6GALNAC3/intron/ 0.0000 0.6839 0.9940 5 dominant HG002 HG002 chr1:76733710:C:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.55814,.,. recessive HG002 HG002 chr1:76848791:A:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr1:77262859:C:CCCCTCCCTTT 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.315789,.,. recessive HG002 HG002 chr1:77367458:G:GAGCACA 2,.,. -1 -1 -1 -1 -1 -1 AK5 50_intron 40,.,. 1,.,. AK5/intron/;AK5/non_coding/ 0.9800 0.3335 0.5000 1 recessive HG002 HG002 chr1:77367459:C:G 2,.,. -1 -1 -1 -1 -1 -1 AK5 50_intron 40,.,. 1,.,. AK5/intron/;AK5/non_coding/ 0.9800 0.3335 0.5000 1 dominant HG002 HG002 chr1:77475544:A:ACT 1,.,. -1 -1 -1 -1 -1 -1 AK5 50_intron 46,.,. 0.565217,.,. AK5/intron/;AK5/non_coding/ 0.9800 0.3335 0.5000 1 dominant HG002 HG002 chr1:77643074:T:G 1,.,. -1 -1 -1 -1 -1 -1 ZZZ3 50_intron 50,.,. 0.42,.,. ZZZ3/intron/;ZZZ3/non_coding/ 1.0000 0.1850 0.2890 0 recessive HG002 HG002 chr1:78421920:T:C 2,.,. -1 -1 -1 -1 -1 -1 PTGFR 50_intron 50,.,. 0.98,.,. PTGFR/intron/ 0.0040 0.5503 0.8470 3 recessive HG002 HG002 chr1:79232742:G:GAAAA 2,.,. -1 -1 -1 0.0206727 2 59 ADGRL4 50_intron 28,.,. 1,.,. ADGRL4/intron/ 0.0000 1.1788 1.4400 7 dominant HG002 HG002 chr1:79644708:A:T 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.431034,.,. recessive HG002 HG002 chr1:80087011:C:CTGT 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr1:80087012:C:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr1:80087015:A:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr1:80241916:T:A 2,.,. 0.0123922 0 23 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr1:80494020:A:AACTGTGG 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr1:80494021:T:A 1,.,. 6.61708e-06 0 1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr1:80669369:C:CGTGTGTGT 1,.,. 7.01597e-06 0 1 0.000700771 0 2 48,.,. 0.3125,.,. recessive HG002 HG002 chr1:80940716:C:T 2,.,. -1 -1 -1 0.00350385 3 10 25,.,. 1,.,. recessive HG002 HG002 chr1:81403249:G:T 2,.,. -1 -1 -1 -1 -1 -1 ADGRL2 50_intron 27,.,. 1,.,. ADGRL2/non_coding/;ADGRL2/intron/ 1.0000 0.2166 0.3010 0 dominant HG002 HG002 chr1:81447200:A:T 1,.,. -1 -1 -1 -1 -1 -1 ADGRL2 50_intron 37,.,. 0.513514,.,. ADGRL2/non_coding/;ADGRL2/intron/ 1.0000 0.2166 0.3010 0 dominant HG002 HG002 chr1:81512013:G:T 1,.,. -1 -1 -1 -1 -1 -1 ADGRL2 50_intron 42,.,. 0.333333,.,. ADGRL2/non_coding/;ADGRL2/intron/ 1.0000 0.2166 0.3010 0 dominant HG002 HG002 chr1:81512023:A:T 1,.,. 6.57341e-06 0 1 -1 -1 -1 ADGRL2 50_intron 42,.,. 0.333333,.,. ADGRL2/non_coding/;ADGRL2/intron/ 1.0000 0.2166 0.3010 0 dominant HG002 HG002 chr1:81557040:G:A 1,.,. -1 -1 -1 -1 -1 -1 ADGRL2 50_intron 47,.,. 0.489362,.,. ADGRL2/non_coding/;ADGRL2/intron/ 1.0000 0.2166 0.3010 0 dominant HG002 HG002 chr1:81734401:G:A 1,.,. -1 -1 -1 -1 -1 -1 ADGRL2 50_intron 41,.,. 0.560976,.,. ADGRL2/non_coding/;ADGRL2/intron/ 1.0000 0.2166 0.3010 0 dominant HG002 HG002 chr1:81767868:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 ADGRL2 50_intron 34,.,. 0.382353,.,. ADGRL2/intron/;ADGRL2/non_coding/ 1.0000 0.2166 0.3010 0 dominant HG002 HG002 chr1:81767869:G:A 1,.,. -1 -1 -1 0.00105116 0 3 ADGRL2 50_intron 30,.,. 0.466667,.,. ADGRL2/intron/;ADGRL2/non_coding/ 1.0000 0.2166 0.3010 0 dominant HG002 HG002 chr1:81874630:T:TTGTCC 1,.,. -1 -1 -1 -1 -1 -1 ADGRL2 50_intron 44,.,. 0.431818,.,. ADGRL2/intron/;ADGRL2/non_coding/ 1.0000 0.2166 0.3010 0 dominant HG002 HG002 chr1:82021450:C:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr1:82400428:C:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr1:82430880:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr1:82577030:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.431818,.,. dominant HG002 HG002 chr1:82580109:TTTA:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.404762,.,. dominant HG002 HG002 chr1:82580113:T:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. recessive HG002 HG002 chr1:82695523:A:C 2,.,. 2.66493e-05 0 4 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr1:82736423:T:TTCCCTCCC 1,.,. -1 -1 -1 0.000700771 0 2 32,.,. 0.3125,.,. dominant HG002 HG002 chr1:82736475:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr1:83497789:A:G 1,.,. 6.57134e-06 0 1 -1 -1 -1 55,.,. 0.436364,.,. recessive HG002 HG002 chr1:83892287:T:TACGA 2,.,. -1 -1 -1 -1 -1 -1 TTLL7 50_intron 46,.,. 1,.,. TTLL7/intron/;TTLL7/non_coding/ 0.0047 0.4425 0.5640 1 recessive HG002 HG002 chr1:83892288:G:A 2,.,. -1 -1 -1 -1 -1 -1 TTLL7 50_intron 46,.,. 1,.,. TTLL7/intron/;TTLL7/non_coding/ 0.0047 0.4425 0.5640 1 recessive HG002 HG002 chr1:84284880:A:G 2,.,. -1 -1 -1 0.0259285 1 74 42,.,. 1,.,. dominant HG002 HG002 chr1:84592801:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. dominant HG002 HG002 chr1:84592806:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. recessive HG002 HG002 chr1:85646015:GGGTATTCAAT:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr1:85646026:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr1:85749754:G:A 1,.,. -1 -1 -1 -1 -1 -1 COL24A1 50_intron 51,.,. 0.490196,.,. COL24A1/intron/ 0.0000 0.8327 0.9560 4 dominant HG002 HG002 chr1:85928308:G:A 1,.,. -1 -1 -1 -1 -1 -1 COL24A1 50_intron 39,.,. 0.512821,.,. COL24A1/intron/ 0.0000 0.8327 0.9560 4 dominant HG002 HG002 chr1:85928370:G:A 1,.,. -1 -1 -1 -1 -1 -1 COL24A1 50_intron 39,.,. 0.512821,.,. COL24A1/intron/ 0.0000 0.8327 0.9560 4 dominant HG002 HG002 chr1:85928933:C:T 1,.,. -1 -1 -1 -1 -1 -1 COL24A1 50_intron 43,.,. 0.488372,.,. COL24A1/intron/ 0.0000 0.8327 0.9560 4 dominant HG002 HG002 chr1:85929253:G:A 1,.,. -1 -1 -1 0.000700771 0 2 COL24A1 50_intron 44,.,. 0.477273,.,. COL24A1/intron/ 0.0000 0.8327 0.9560 4 dominant HG002 HG002 chr1:86141895:G:A 1,.,. -1 -1 -1 -1 -1 -1 COL24A1 50_intron 48,.,. 0.520833,.,. COL24A1/intron/ 0.0000 0.8327 0.9560 4 dominant HG002 HG002 chr1:86180459:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr1:86511372:T:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr1:86681707:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr1:86691113:G:C 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.509091,.,. recessive HG002 HG002 chr1:86810763:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr1:86810776:A:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr1:86810782:G:A 2,.,. 0.00323339 1 55 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr1:86842097:C:G 1,.,. -1 -1 -1 0.000700771 0 2 30,.,. 0.366667,.,. dominant HG002 HG002 chr1:87247578:ATTTGTGGTTTAAATAACAAGCTGC:A 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.5,.,. dominant HG002 HG002 chr1:87247605:ACTT:A 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.5,.,. dominant HG002 HG002 chr1:87295747:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. recessive HG002 HG002 chr1:88318216:T:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr1:89100618:CTTGTTGG:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr1:89100626:A:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr1:89100628:C:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr1:89395243:C:CAAGG 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.566038,.,. dominant HG002 HG002 chr1:89561597:C:T 1,.,. -1 -1 -1 -1 -1 -1 LRRC8B 50_intron 42,.,. 0.5,.,. LRRC8B/intron/ 0.7107 0.3851 0.5460 1 recessive HG002 HG002 chr1:89797776:G:GTGGC 2,.,. -1 -1 -1 -1 -1 -1 AC093423.3 50_intron 37,.,. 1,.,. AC093423.3/intron/ recessive HG002 HG002 chr1:89797777:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC093423.3 50_intron 37,.,. 1,.,. AC093423.3/intron/ dominant HG002 HG002 chr1:90097398:A:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.425532,.,. recessive HG002 HG002 chr1:90378945:G:A 2,.,. 0.00052521 1 2 0.0196216 2 56 44,.,. 1,.,. dominant HG002 HG002 chr1:90855039:TA:T 1,.,. -1 -1 -1 0.00105116 0 3 32,.,. 0.5,.,. dominant HG002 HG002 chr1:91099067:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr1:91836432:CTGTAAAA:C 1,.,. -1 -1 -1 -1 -1 -1 TGFBR3 50_intron 23,.,. 0.565217,.,. TGFBR3/intron/ 0.0000 0.4944 0.6360 2 0.000 dominant HG002 HG002 chr1:91836442:T:A 1,.,. 8.4488e-05 0 1 -1 -1 -1 TGFBR3 50_intron 23,.,. 0.565217,.,. TGFBR3/intron/ 0.0000 0.4944 0.6360 2 0.000 dominant HG002 HG002 chr1:91929063:A:AAAAGAGAG 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.380952,.,. dominant HG002 HG002 chr1:92126506:C:CGT 1,.,. -1 -1 -1 -1 -1 -1 BTBD8 50_intron 31,.,. 0.387097,.,. BTBD8/intron/;BTBD8/non_coding/ 0.0000 0.6279 0.7530 3 dominant HG002 HG002 chr1:92126507:T:A 1,.,. -1 -1 -1 -1 -1 -1 BTBD8 50_intron 31,.,. 0.387097,.,. BTBD8/intron/;BTBD8/non_coding/ 0.0000 0.6279 0.7530 3 dominant HG002 HG002 chr1:92134129:GAAGGAACT:G 1,.,. -1 -1 -1 -1 -1 -1 BTBD8 50_intron 42,.,. 0.52381,.,. BTBD8/intron/;BTBD8/non_coding/ 0.0000 0.6279 0.7530 3 dominant HG002 HG002 chr1:92134138:C:T 1,.,. -1 -1 -1 -1 -1 -1 BTBD8 50_intron 41,.,. 0.536585,.,. BTBD8/intron/;BTBD8/non_coding/ 0.0000 0.6279 0.7530 3 dominant HG002 HG002 chr1:92194551:A:AATAT 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.391304,.,. dominant HG002 HG002 chr1:92299422:G:A 1,.,. -1 -1 -1 -1 -1 -1 RPAP2 50_intron 50,.,. 0.6,.,. RPAP2/intron/;RPAP2/non_coding/ 0.0000 0.8675 1.2120 6 recessive HG002 HG002 chr1:92309562:CACATACACATAT:C 2,.,. 0.000696171 0 14 -1 -1 -1 RPAP2 50_intron 50,.,. 0.98,.,. RPAP2/intron/;RPAP2/non_coding/ 0.0000 0.8675 1.2120 6 recessive HG002 HG002 chr1:92309586:C:T 2,.,. 0.00361011 0 26 0.00946041 1 27 RPAP2 50_intron 50,.,. 1,.,. RPAP2/intron/;RPAP2/non_coding/ 0.0000 0.8675 1.2120 6 dominant HG002 HG002 chr1:92452393:G:A 1,.,. 6.61349e-06 0 1 -1 -1 -1 26,.,. 0.423077,.,. recessive HG002 HG002 chr1:92614856:ATATATATATATATAT:A 2,.,. 1.38562e-05 0 2 -1 -1 -1 EVI5 50_intron 37,.,. 1,.,. EVI5/intron/;EVI5/non_coding/ 0.0053 0.5053 0.7410 3 recessive HG002 HG002 chr1:92614886:C:A 2,.,. -1 -1 -1 -1 -1 -1 EVI5 50_intron 38,.,. 1,.,. EVI5/intron/;EVI5/non_coding/ 0.0053 0.5053 0.7410 3 recessive HG002 HG002 chr1:92796735:A:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr1:92796736:G:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr1:92796755:G:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr1:92796757:G:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr1:92797387:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.764706,.,. dominant HG002 HG002 chr1:92797387:G:GGTGTGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.764706,.,. recessive HG002 HG002 chr1:93048882:C:CAGATCACGA 2,.,. 0.000122892 0 5 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr1:93048892:G:A 2,.,. 0.000182749 0 27 0.000700771 0 2 42,.,. 1,.,. recessive HG002 HG002 chr1:93846988:G:C 2,.,. -1 -1 -1 -1 -1 -1 BCAR3 50_intron 34,.,. 1,.,. BCAR3/intron/;BCAR3/non_coding/ 0.0109 0.4441 0.5840 2 dominant HG002 HG002 chr1:94046444:G:GGAGTAA 1,.,. -1 -1 -1 -1 -1 -1 ABCA4 50_intron 32,.,. 0.5625,.,. ABCA4/intron/ 0.0000 0.6969 0.7860 3 Cone-rod dystrophy 3;Retinitis pigmentosa 19;Severe early-childhood-onset retinal dystrophy;Age related macular degeneration 2 0.000 dominant HG002 HG002 chr1:94046446:T:A 1,.,. -1 -1 -1 -1 -1 -1 ABCA4 50_intron 32,.,. 0.5625,.,. ABCA4/intron/ 0.0000 0.6969 0.7860 3 Cone-rod dystrophy 3;Retinitis pigmentosa 19;Severe early-childhood-onset retinal dystrophy;Age related macular degeneration 2 0.000 dominant HG002 HG002 chr1:94124141:CTTTTTTTGT:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr1:94211305:A:C 1,.,. -1 -1 -1 -1 -1 -1 ARHGAP29 50_intron 40,.,. 0.475,.,. ARHGAP29/intron/ 0.9997 0.3421 0.4480 1 0.000 dominant HG002 HG002 chr1:94847439:CCAGTTACATAG:C 1,.,. -1 -1 -1 -1 -1 -1 SLC44A3-AS1;SLC44A3 50_intron 36,.,. 0.638889,.,. SLC44A3-AS1/non_coding/;SLC44A3/intron/ 0.0000 0.9623 1.1760 6 dominant HG002 HG002 chr1:94847451:C:T 1,.,. -1 -1 -1 -1 -1 -1 SLC44A3-AS1;SLC44A3 50_intron 36,.,. 0.638889,.,. SLC44A3-AS1/non_coding/;SLC44A3/intron/ 0.0000 0.9623 1.1760 6 recessive HG002 HG002 chr1:94875635:A:ACAG 2,.,. -1 -1 -1 -1 -1 -1 SLC44A3 50_intron 32,.,. 1,.,. SLC44A3/intron/;SLC44A3/non_coding/ 0.0000 0.9623 1.1760 6 recessive HG002 HG002 chr1:94875637:G:C 2,.,. -1 -1 -1 -1 -1 -1 SLC44A3 50_intron 32,.,. 1,.,. SLC44A3/intron/;SLC44A3/non_coding/ 0.0000 0.9623 1.1760 6 dominant HG002 HG002 chr1:95087607:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr1:95616814:ACACACACACT:A 1,.,. 0.000193349 0 1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr1:95628520:AT:A 1,.,. 1.97083e-05 0 3 -1 -1 -1 31,.,. 0.580645,.,. dominant HG002 HG002 chr1:95982464:C:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.576923,.,. dominant HG002 HG002 chr1:96153702:G:A 1,.,. 6.57177e-06 0 1 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr1:96176722:G:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.533333,.,. recessive HG002 HG002 chr1:96242422:A:ATTTG 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr1:96242428:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr1:96628961:AT:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr1:98531513:C:T 1,.,. 6.57479e-06 0 1 -1 -1 -1 42,.,. 0.452381,.,. recessive HG002 HG002 chr1:99008683:G:C 2,.,. 6.57212e-06 0 1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr1:99008684:A:AAGGACAAACT 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr1:99102089:G:GATT 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.446429,.,. dominant HG002 HG002 chr1:99102092:A:C 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.446429,.,. dominant HG002 HG002 chr1:99530189:A:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr1:99746003:G:GTAC 1,.,. -1 -1 -1 -1 -1 -1 FRRS1 50_intron 52,.,. 0.519231,.,. FRRS1/intron/ 0.0000 0.7410 1.0770 5 dominant HG002 HG002 chr1:99746004:C:A 1,.,. -1 -1 -1 -1 -1 -1 FRRS1 50_intron 52,.,. 0.519231,.,. FRRS1/intron/ 0.0000 0.7410 1.0770 5 recessive HG002 HG002 chr1:100283935:G:A 2,.,. -1 -1 -1 0.00140154 1 4 RTCA 50_intron 37,.,. 1,.,. RTCA/intron/ 0.0000 0.8725 1.1900 6 dominant HG002 HG002 chr1:100571636:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.377358,.,. recessive HG002 HG002 chr1:100901971:T:C 2,.,. -1 -1 -1 -1 -1 -1 SLC30A7 50_intron 41,.,. 1,.,. SLC30A7/intron/ 0.0000 0.7879 1.1160 6 Ziegler-Huang syndrome recessive HG002 HG002 chr1:100901972:T:A 2,.,. -1 -1 -1 -1 -1 -1 SLC30A7 50_intron 41,.,. 1,.,. SLC30A7/intron/ 0.0000 0.7879 1.1160 6 Ziegler-Huang syndrome dominant HG002 HG002 chr1:102466451:A:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr1:102466452:T:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. recessive HG002 HG002 chr1:102541148:A:T 2,.,. 0.026455 0 40 0.00175193 0 5 34,.,. 1,.,. dominant HG002 HG002 chr1:102654166:A:AATAT 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.4,.,. dominant HG002 HG002 chr1:102897439:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 COL11A1 50_intron 42,.,. 0.47619,.,. COL11A1/intron/ 1.0000 0.2765 0.3490 0 Intervertebral disc disorder;Hearing loss, autosomal dominant 37;Marshall syndrome;Stickler syndrome type 2 0.000 recessive HG002 HG002 chr1:102994323:C:T 2,.,. -1 -1 -1 -1 -1 -1 COL11A1 50_intron 39,.,. 1,.,. COL11A1/intron/ 1.0000 0.2765 0.3490 0 Intervertebral disc disorder;Hearing loss, autosomal dominant 37;Marshall syndrome;Stickler syndrome type 2 0.000 recessive HG002 HG002 chr1:102994324:A:C 2,.,. -1 -1 -1 -1 -1 -1 COL11A1 50_intron 39,.,. 1,.,. COL11A1/intron/ 1.0000 0.2765 0.3490 0 Intervertebral disc disorder;Hearing loss, autosomal dominant 37;Marshall syndrome;Stickler syndrome type 2 0.000 recessive HG002 HG002 chr1:102994325:T:A 2,.,. -1 -1 -1 -1 -1 -1 COL11A1 50_intron 39,.,. 1,.,. COL11A1/intron/ 1.0000 0.2765 0.3490 0 Intervertebral disc disorder;Hearing loss, autosomal dominant 37;Marshall syndrome;Stickler syndrome type 2 0.000 dominant HG002 HG002 chr1:103350902:A:T 1,.,. -1 -1 -1 0.000700771 0 2 36,.,. 0.555556,.,. dominant HG002 HG002 chr1:103970363:AATT:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.37037,.,. dominant HG002 HG002 chr1:104035573:G:T 1,.,. -1 -1 -1 0.000700771 0 2 49,.,. 0.489796,.,. recessive HG002 HG002 chr1:104132173:C:G 2,.,. 0.0172414 0 1 -1 -1 -1 AC092506.1 53_non_coding 39,.,. 1,.,. AC092506.1/non_coding/ recessive HG002 HG002 chr1:104132174:A:C 2,.,. 6.58129e-06 0 1 -1 -1 -1 AC092506.1 53_non_coding 39,.,. 1,.,. AC092506.1/non_coding/ recessive HG002 HG002 chr1:104132175:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC092506.1 53_non_coding 39,.,. 1,.,. AC092506.1/non_coding/ dominant HG002 HG002 chr1:104706778:C:CAAAGCAAAAGTAAAGCG 1,.,. 9.91631e-06 0 1 0.000700771 0 2 29,.,. 0.448276,.,. dominant HG002 HG002 chr1:104875854:T:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr1:104875855:A:T 1,.,. 6.64876e-06 0 1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr1:104877162:T:TTGTATA 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr1:104877169:T:A 1,.,. 1.378e-05 0 2 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr1:104883579:G:GTGTGTGCA 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr1:104946732:AACTACCAGACAC:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr1:104946745:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr1:105117747:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr1:105585951:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr1:105659904:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr1:105953530:A:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr1:106163849:AT:A 1,.,. 1.31472e-05 0 2 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr1:106186375:G:A 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.431373,.,. recessive HG002 HG002 chr1:106270823:G:T 2,.,. 0.00865143 4 296 0.00175193 0 5 41,.,. 1,.,. dominant HG002 HG002 chr1:106278021:G:A 1,.,. 2.63786e-05 0 4 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr1:106324873:GATAGAGAT:G 1,.,. 7.49884e-06 0 1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr1:106392062:G:A 1,.,. 6.57999e-06 0 1 -1 -1 -1 40,.,. 0.475,.,. recessive HG002 HG002 chr1:106427164:T:G 2,.,. -1 -1 -1 0.00700771 1 20 38,.,. 1,.,. recessive HG002 HG002 chr1:106427166:T:C 2,.,. -1 -1 -1 0.00735809 0 21 38,.,. 1,.,. recessive HG002 HG002 chr1:106674614:A:AGGATCAT 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr1:106674615:T:A 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. dominant HG002 HG002 chr1:106715683:AAC:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.583333,.,. dominant HG002 HG002 chr1:106715686:A:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.583333,.,. dominant HG002 HG002 chr1:106819452:CCTAAA:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr1:106922879:GAAAGAGGAAGAGGAA:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr1:107376414:A:AAAAC 1,.,. -1 -1 -1 -1 -1 -1 NTNG1 50_intron 39,.,. 0.384615,.,. NTNG1/intron/;NTNG1/non_coding/ 0.9991 0.2926 0.4440 1 0.000 dominant HG002 HG002 chr1:107376416:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 NTNG1 50_intron 41,.,. 0.292683,.,. NTNG1/intron/;NTNG1/non_coding/ 0.9991 0.2926 0.4440 1 0.000 dominant HG002 HG002 chr1:107661182:C:T 1,.,. 6.57454e-06 0 1 -1 -1 -1 VAV3 50_intron 51,.,. 0.45098,.,. VAV3/intron/;VAV3/non_coding/ 0.0000 0.6853 0.8420 3 recessive HG002 HG002 chr1:107945841:A:G 2,.,. -1 -1 -1 0.00210231 1 6 VAV3 50_intron 42,.,. 1,.,. VAV3/intron/;VAV3/non_coding/ 0.0000 0.6853 0.8420 3 dominant HG002 HG002 chr1:108024950:A:G 1,.,. 2.21818e-05 0 1 -1 -1 -1 45,.,. 0.511111,.,. recessive HG002 HG002 chr1:108666583:T:A 2,.,. 6.68396e-06 0 1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr1:108666584:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr1:108716314:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 FNDC7 50_intron 47,.,. 0.361702,.,. FNDC7/intron/ 0.0000 0.8138 1.0150 5 dominant HG002 HG002 chr1:109177528:C:CTAGATGGGATGGCGGCCGGGCAGAGACGCTCCTCACTTCT 1,.,. -1 -1 -1 -1 -1 -1 ELAPOR1 50_intron 31,.,. 0.354839,.,. ELAPOR1/intron/;ELAPOR1/non_coding/ 0.0000 0.6318 0.7680 3 dominant HG002 HG002 chr1:109326506:CACACATACACATATATAT:C 1,.,. 1.87119e-05 0 1 0.00105116 0 3 SORT1 50_intron 35,.,. 0.6,.,. SORT1/intron/ 0.8305 0.3644 0.5530 1 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 dominant HG002 HG002 chr1:109497831:ATGGGG:A 1,.,. -1 -1 -1 -1 -1 -1 CYB561D1 36_3_prime_utr 30,.,. 0.5,.,. CYB561D1/3_prime_utr/ENST00000496961;CYB561D1/3_prime_utr/ENST00000430195;CYB561D1/3_prime_utr/ENST00000310611;CYB561D1/3_prime_utr/ENST00000420578 0.0001 0.7700 1.1860 6 dominant HG002 HG002 chr1:109497837:A:C 1,.,. -1 -1 -1 -1 -1 -1 CYB561D1 36_3_prime_utr 30,.,. 0.5,.,. CYB561D1/3_prime_utr/ENST00000496961;CYB561D1/3_prime_utr/ENST00000430195;CYB561D1/3_prime_utr/ENST00000310611;CYB561D1/3_prime_utr/ENST00000420578 0.0001 0.7700 1.1860 6 dominant HG002 HG002 chr1:109497838:C:A 1,.,. -1 -1 -1 -1 -1 -1 CYB561D1 36_3_prime_utr 29,.,. 0.482759,.,. CYB561D1/3_prime_utr/ENST00000496961;CYB561D1/3_prime_utr/ENST00000430195;CYB561D1/3_prime_utr/ENST00000310611;CYB561D1/3_prime_utr/ENST00000420578 0.0001 0.7700 1.1860 6 dominant HG002 HG002 chr1:109529510:AACCACAACAAAACACAC:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr1:110063838:T:C 1,.,. 1.31626e-05 0 2 -1 -1 -1 STRIP1;ALX3 50_intron 34,.,. 0.529412,.,. STRIP1/non_coding/;ALX3/intron/ 0.0000;;0.0001 0.6311;;0.7004 0.7830;;1.0510 3;;5 Frontorhiny 0.000 dominant HG002 HG002 chr1:110354752:A:C 1,.,. 1.32102e-05 0 2 -1 -1 -1 45,.,. 0.444444,.,. recessive HG002 HG002 chr1:110710770:T:G 2,.,. 0.00231209 2 350 0.00280308 1 8 48,.,. 1,.,. dominant HG002 HG002 chr1:110778885:A:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.490196,.,. dominant HG002 HG002 chr1:110786105:A:G 1,.,. 2.6275e-05 0 4 -1 -1 -1 50,.,. 0.52,.,. dominant HG002 HG002 chr1:110859957:A:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.395833,.,. dominant HG002 HG002 chr1:111185816:T:C 1,.,. 1.31404e-05 0 2 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr1:111209404:A:C 1,.,. 1.31444e-05 0 2 -1 -1 -1 CHI3L2 50_intron 37,.,. 0.513514,.,. CHI3L2/intron/ 0.0000 0.9536 1.2500 7 dominant HG002 HG002 chr1:111457026:TGATTTAA:T 1,.,. -1 -1 -1 -1 -1 -1 ATP5PB 50_intron 32,.,. 0.4375,.,. ATP5PB/intron/;ATP5PB/non_coding/ 0.0001 0.5951 0.8570 3 dominant HG002 HG002 chr1:111457034:A:T 1,.,. -1 -1 -1 -1 -1 -1 ATP5PB 50_intron 32,.,. 0.4375,.,. ATP5PB/intron/;ATP5PB/non_coding/ 0.0001 0.5951 0.8570 3 dominant HG002 HG002 chr1:111509096:A:G 1,.,. 1.97176e-05 0 3 -1 -1 -1 TMIGD3 50_intron 49,.,. 0.55102,.,. TMIGD3/intron/ 0.0006 0.6166 0.9360 4 dominant HG002 HG002 chr1:111943172:G:C 1,.,. -1 -1 -1 -1 -1 -1 KCND3 50_intron 31,.,. 0.677419,.,. KCND3/intron/ 1.0000 0.1738 0.3030 0 Spinocerebellar ataxia type 19/22;Brugada syndrome 9 0.000 dominant HG002 HG002 chr1:112387998:GAGGAAGGAAGGA:G 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.736842,.,. dominant HG002 HG002 chr1:112522318:C:T 1,.,. 6.56685e-06 0 1 -1 -1 -1 WNT2B 36_3_prime_utr 37,.,. 0.621622,.,. WNT2B/3_prime_utr/ENST00000369686;WNT2B/3_prime_utr/ENST00000369684 0.0318 0.4606 0.6760 2 Diarrhea 9 0.000 dominant HG002 HG002 chr1:112551617:AACTGT:A 1,.,. -1 -1 -1 -1 -1 -1 ST7L 50_intron 42,.,. 0.452381,.,. ST7L/intron/;ST7L/non_coding/ 0.0000 0.7366 0.9620 4 dominant HG002 HG002 chr1:112551623:A:C 1,.,. -1 -1 -1 -1 -1 -1 ST7L 50_intron 41,.,. 0.487805,.,. ST7L/intron/;ST7L/non_coding/ 0.0000 0.7366 0.9620 4 dominant HG002 HG002 chr1:112738938:C:T 1,.,. 1.31423e-05 0 2 0.000700771 0 2 22,.,. 0.454545,.,. dominant HG002 HG002 chr1:112773584:G:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr1:112773587:A:C 1,.,. -1 -1 -1 0.00105116 0 3 33,.,. 0.393939,.,. dominant HG002 HG002 chr1:113182317:C:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.387097,.,. dominant HG002 HG002 chr1:113189986:T:C 1,.,. 1.97151e-05 0 3 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr1:113312601:C:CCTCACCA 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.511111,.,. dominant HG002 HG002 chr1:113312602:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr1:113475332:A:G 1,.,. -1 -1 -1 -1 -1 -1 MAGI3 50_intron 51,.,. 0.568627,.,. MAGI3/intron/;MAGI3/non_coding/ 0.9950 0.3604 0.4720 1 recessive HG002 HG002 chr1:113498061:G:A 2,.,. -1 -1 -1 0.0115627 4 33 MAGI3 50_intron 24,.,. 1,.,. MAGI3/intron/;MAGI3/non_coding/ 0.9950 0.3604 0.4720 1 dominant HG002 HG002 chr1:113947059:C:T 1,.,. 6.57073e-06 0 1 -1 -1 -1 HIPK1 50_intron 48,.,. 0.5,.,. HIPK1/intron/ 1.0000 0.2594 0.3560 0 dominant HG002 HG002 chr1:114677795:C:CTCCTTCCT 1,.,. -1 -1 -1 -1 -1 -1 AMPD1 50_intron 49,.,. 0.428571,.,. AMPD1/intron/;AMPD1/non_coding/ 0.0000 0.8500 1.0360 5 Muscle AMP deaminase deficiency 0.000 dominant HG002 HG002 chr1:115224475:C:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.555556,.,. dominant HG002 HG002 chr1:115797237:T:C 1,.,. 1.97275e-05 0 3 -1 -1 -1 52,.,. 0.576923,.,. dominant HG002 HG002 chr1:116187031:T:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.413043,.,. recessive HG002 HG002 chr1:117206671:T:C 2,.,. -1 -1 -1 -1 -1 -1 VTCN1 50_intron 33,.,. 1,.,. VTCN1/intron/;VTCN1/non_coding/ 0.0000 0.9508 1.3190 7 recessive HG002 HG002 chr1:117206672:G:A 2,.,. 0.0010661 0 2 -1 -1 -1 VTCN1 50_intron 33,.,. 1,.,. VTCN1/intron/;VTCN1/non_coding/ 0.0000 0.9508 1.3190 7 recessive HG002 HG002 chr1:117206673:TTGA:T 2,.,. -1 -1 -1 -1 -1 -1 VTCN1 50_intron 33,.,. 1,.,. VTCN1/intron/;VTCN1/non_coding/ 0.0000 0.9508 1.3190 7 recessive HG002 HG002 chr1:117206677:T:G 2,.,. -1 -1 -1 -1 -1 -1 VTCN1 50_intron 33,.,. 1,.,. VTCN1/intron/;VTCN1/non_coding/ 0.0000 0.9508 1.3190 7 recessive HG002 HG002 chr1:117225601:G:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr1:117814284:TTGC:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr1:117814289:A:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr1:117851575:AGT:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr1:117851579:T:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr1:118226426:C:A 1,.,. 1.3151e-05 0 2 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr1:118287102:T:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr1:118597463:A:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.541667,.,. dominant HG002 HG002 chr1:119247093:T:TTATATA 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.4,.,. recessive HG002 HG002 chr1:119839064:G:C 2,.,. -1 -1 -1 -1 -1 -1 NBPF7 53_non_coding 37,.,. 1,.,. NBPF7/non_coding/ dominant HG002 HG002 chr1:120058738:T:C 1,.,. -1 -1 -1 0.00140154 0 4 NOTCH2 50_intron 41,.,. 0.707317,.,. NOTCH2/intron/;NOTCH2/non_coding/ 1.0000 0.1076 0.1510 0 Alagille syndrome due to a NOTCH2 point mutation;Hajdu-Cheney syndrome 0.000 dominant HG002 HG002 chr1:120103521:C:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr1:120132894:ATTATTTTGCAATTCT:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.596154,.,. dominant HG002 HG002 chr1:120132910:T:C 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.584906,.,. dominant HG002 HG002 chr1:120357012:AACACAC:A 1,.,. 6.27392e-05 0 2 -1 -1 -1 18,.,. 0.722222,.,. dominant HG002 HG002 chr1:120358541:G:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr1:120366009:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr1:120388599:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.606061,.,. dominant HG002 HG002 chr1:120411416:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr1:120430180:A:T 1,.,. -1 -1 -1 -1 -1 -1 NBPF8 53_non_coding 34,.,. 0.588235,.,. NBPF8/non_coding/ dominant HG002 HG002 chr1:120448342:C:T 1,.,. -1 -1 -1 0.000700771 0 2 NBPF8 53_non_coding 25,.,. 0.4,.,. NBPF8/non_coding/ dominant HG002 HG002 chr1:120497127:T:C 1,.,. -1 -1 -1 0.00105116 0 3 AC241952.1 53_non_coding 34,.,. 0.470588,.,. AC241952.1/non_coding/ dominant HG002 HG002 chr1:120544289:C:T 1,.,. -1 -1 -1 -1 -1 -1 AC241952.1 53_non_coding 54,.,. 0.611111,.,. AC241952.1/non_coding/ dominant HG002 HG002 chr1:120717100:C:A 1,.,. 0.000123722 0 3 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr1:120786064:G:A 1,.,. -1 -1 -1 -1 -1 -1 NOTCH2NLR 50_intron 39,.,. 0.384615,.,. NOTCH2NLR/intron/ 0.0000 1.4395 1.8990 9 recessive HG002 HG002 chr1:120834653:T:A 2,.,. -1 -1 -1 -1 -1 -1 NBPF26 14_missense 25,.,. 1,.,. NBPF26/missense/ENST00000609741 0.0000 1.1975 1.5740 8 recessive HG002 HG002 chr1:120834655:G:A 2,.,. -1 -1 -1 -1 -1 -1 NBPF26 14_missense 25,.,. 1,.,. NBPF26/missense/ENST00000609741 0.0000 1.1975 1.5740 8 recessive HG002 HG002 chr1:120834867:G:A 2,.,. -1 -1 -1 -1 -1 -1 NBPF26 50_intron 25,.,. 1,.,. NBPF26/intron/ 0.0000 1.1975 1.5740 8 recessive HG002 HG002 chr1:120835097:A:AATTTTGT 2,.,. -1 -1 -1 -1 -1 -1 NBPF26 50_intron 18,.,. 1,.,. NBPF26/intron/ 0.0000 1.1975 1.5740 8 recessive HG002 HG002 chr1:120835100:G:A 2,.,. -1 -1 -1 -1 -1 -1 NBPF26 50_intron 19,.,. 1,.,. NBPF26/intron/ 0.0000 1.1975 1.5740 8 recessive HG002 HG002 chr1:120835101:G:T 2,.,. -1 -1 -1 -1 -1 -1 NBPF26 50_intron 19,.,. 1,.,. NBPF26/intron/ 0.0000 1.1975 1.5740 8 recessive HG002 HG002 chr1:120835102:T:C 2,.,. -1 -1 -1 -1 -1 -1 NBPF26 50_intron 19,.,. 1,.,. NBPF26/intron/ 0.0000 1.1975 1.5740 8 dominant HG002 HG002 chr1:120962378:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr1:120994118:C:T 1,.,. -1 -1 -1 -1 -1 -1 AC241377.2 53_non_coding 41,.,. 0.414634,.,. AC241377.2/non_coding/ dominant HG002 HG002 chr1:121059985:G:A 1,.,. -1 -1 -1 0.000700771 0 2 33,.,. 0.515152,.,. dominant HG002 HG002 chr1:121142207:G:A 1,.,. -1 -1 -1 -1 -1 -1 RPL22P6 53_non_coding 33,.,. 0.545455,.,. RPL22P6/non_coding/ dominant HG002 HG002 chr1:121149849:GAAAAGAATTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.69697,.,. dominant HG002 HG002 chr1:121221168:G:T 1,.,. -1 -1 -1 0.00105116 0 3 SRGAP2C 50_intron 28,.,. 0.428571,.,. SRGAP2C/intron/ 0.0276 1.3196 1.9140 9 recessive HG002 HG002 chr1:121419338:T:C 2,.,. 0.00122305 1 64 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr1:121574814:A:G 1,.,. 1.31377e-05 0 2 -1 -1 -1 EMBP1 53_non_coding 45,.,. 0.4,.,. EMBP1/non_coding/ recessive HG002 HG002 chr1:122508279:C:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr1:122508280:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr1:122511950:A:G 2,.,. -1 -1 -1 -1 -1 -1 234,.,. 0.995726,.,. recessive HG002 HG002 chr1:122513025:A:T 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 0.982456,.,. recessive HG002 HG002 chr1:122513140:T:G 2,.,. -1 -1 -1 -1 -1 -1 295,.,. 0.983051,.,. recessive HG002 HG002 chr1:122526233:C:T 2,.,. -1 -1 -1 -1 -1 -1 220,.,. 1,.,. recessive HG002 HG002 chr1:122530017:T:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr1:122541446:A:T 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 0.985646,.,. recessive HG002 HG002 chr1:122541457:G:T 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 1,.,. recessive HG002 HG002 chr1:122541462:A:G 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 0.995261,.,. recessive HG002 HG002 chr1:122545834:T:A 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 1,.,. recessive HG002 HG002 chr1:122556745:A:T 2,.,. -1 -1 -1 -1 -1 -1 125,.,. 1,.,. recessive HG002 HG002 chr1:122557864:T:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr1:122557865:G:C 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr1:122557866:T:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr1:122559245:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr1:122577122:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr1:122596634:G:C 2,.,. -1 -1 -1 -1 -1 -1 317,.,. 0.993691,.,. recessive HG002 HG002 chr1:122596960:T:G 2,.,. -1 -1 -1 -1 -1 -1 315,.,. 0.993651,.,. recessive HG002 HG002 chr1:122596973:C:T 2,.,. -1 -1 -1 -1 -1 -1 324,.,. 0.987654,.,. recessive HG002 HG002 chr1:122596990:T:C 2,.,. -1 -1 -1 -1 -1 -1 311,.,. 0.996785,.,. recessive HG002 HG002 chr1:122600941:G:T 2,.,. -1 -1 -1 -1 -1 -1 499,.,. 0.985972,.,. recessive HG002 HG002 chr1:122607933:G:C 2,.,. -1 -1 -1 -1 -1 -1 324,.,. 0.993827,.,. recessive HG002 HG002 chr1:122632781:T:A 2,.,. -1 -1 -1 -1 -1 -1 170,.,. 0.988235,.,. recessive HG002 HG002 chr1:122636834:G:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.981221,.,. recessive HG002 HG002 chr1:122647726:C:G 2,.,. -1 -1 -1 -1 -1 -1 130,.,. 1,.,. recessive HG002 HG002 chr1:122647735:A:T 2,.,. -1 -1 -1 -1 -1 -1 131,.,. 1,.,. recessive HG002 HG002 chr1:122647813:G:C 2,.,. -1 -1 -1 -1 -1 -1 128,.,. 0.984375,.,. recessive HG002 HG002 chr1:122655341:C:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr1:122665204:A:T 2,.,. -1 -1 -1 -1 -1 -1 167,.,. 0.988024,.,. recessive HG002 HG002 chr1:122669965:A:T 2,.,. -1 -1 -1 -1 -1 -1 264,.,. 1,.,. recessive HG002 HG002 chr1:122684567:A:T 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr1:122684577:T:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr1:122684605:A:T 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr1:122688766:T:A 2,.,. -1 -1 -1 -1 -1 -1 95,.,. 1,.,. recessive HG002 HG002 chr1:122688767:G:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr1:122688768:T:A 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr1:122695811:C:T 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 0.990338,.,. recessive HG002 HG002 chr1:122695827:A:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr1:122695916:A:T 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 0.985507,.,. recessive HG002 HG002 chr1:122696776:G:C 2,.,. -1 -1 -1 -1 -1 -1 217,.,. 0.990783,.,. recessive HG002 HG002 chr1:122696850:A:C 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr1:122702385:G:A 2,.,. -1 -1 -1 -1 -1 -1 364,.,. 1,.,. recessive HG002 HG002 chr1:122704903:C:T 2,.,. -1 -1 -1 -1 -1 -1 306,.,. 0.996732,.,. recessive HG002 HG002 chr1:122705500:A:G 2,.,. -1 -1 -1 -1 -1 -1 290,.,. 1,.,. recessive HG002 HG002 chr1:122705529:G:A 2,.,. -1 -1 -1 -1 -1 -1 302,.,. 1,.,. recessive HG002 HG002 chr1:122706089:C:T 2,.,. -1 -1 -1 -1 -1 -1 300,.,. 0.996667,.,. recessive HG002 HG002 chr1:122706138:T:G 2,.,. -1 -1 -1 -1 -1 -1 300,.,. 0.993333,.,. recessive HG002 HG002 chr1:122709095:A:G 2,.,. -1 -1 -1 -1 -1 -1 251,.,. 1,.,. recessive HG002 HG002 chr1:122710424:C:A 2,.,. -1 -1 -1 -1 -1 -1 239,.,. 1,.,. recessive HG002 HG002 chr1:122710636:G:C 2,.,. -1 -1 -1 -1 -1 -1 242,.,. 0.991736,.,. recessive HG002 HG002 chr1:122711437:T:G 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr1:122711465:T:C 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 1,.,. recessive HG002 HG002 chr1:122712205:C:T 2,.,. -1 -1 -1 0.00280308 4 8 211,.,. 1,.,. recessive HG002 HG002 chr1:122725211:A:G 2,.,. -1 -1 -1 -1 -1 -1 179,.,. 0.988827,.,. recessive HG002 HG002 chr1:122725212:A:C 2,.,. -1 -1 -1 -1 -1 -1 178,.,. 0.983146,.,. recessive HG002 HG002 chr1:122743236:T:A 2,.,. -1 -1 -1 -1 -1 -1 241,.,. 0.995851,.,. recessive HG002 HG002 chr1:122749521:C:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr1:122749693:T:C 2,.,. -1 -1 -1 -1 -1 -1 150,.,. 0.993333,.,. recessive HG002 HG002 chr1:122750722:T:G 2,.,. -1 -1 -1 -1 -1 -1 180,.,. 0.988889,.,. recessive HG002 HG002 chr1:122759928:G:A 2,.,. -1 -1 -1 -1 -1 -1 95,.,. 0.989474,.,. recessive HG002 HG002 chr1:122771951:A:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr1:122776896:T:G 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 1,.,. recessive HG002 HG002 chr1:122778852:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr1:122792356:A:T 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 0.986784,.,. recessive HG002 HG002 chr1:122793354:G:T 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr1:122793377:A:T 2,.,. -1 -1 -1 -1 -1 -1 238,.,. 0.983193,.,. recessive HG002 HG002 chr1:122793378:C:T 2,.,. -1 -1 -1 -1 -1 -1 239,.,. 0.995816,.,. recessive HG002 HG002 chr1:122795469:A:G 2,.,. -1 -1 -1 -1 -1 -1 225,.,. 1,.,. recessive HG002 HG002 chr1:122796424:C:G 2,.,. -1 -1 -1 -1 -1 -1 230,.,. 0.986957,.,. recessive HG002 HG002 chr1:122796493:T:A 2,.,. -1 -1 -1 -1 -1 -1 231,.,. 0.991342,.,. recessive HG002 HG002 chr1:122796516:C:T 2,.,. -1 -1 -1 -1 -1 -1 232,.,. 1,.,. recessive HG002 HG002 chr1:122801198:A:T 2,.,. -1 -1 -1 -1 -1 -1 238,.,. 0.983193,.,. recessive HG002 HG002 chr1:122819061:C:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.985507,.,. recessive HG002 HG002 chr1:122837254:C:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr1:122838092:G:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr1:122838727:G:C 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr1:122839733:C:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr1:122843362:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr1:122843591:G:GA 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 0.991304,.,. recessive HG002 HG002 chr1:122855993:G:C 2,.,. -1 -1 -1 -1 -1 -1 130,.,. 1,.,. recessive HG002 HG002 chr1:122856017:A:T 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr1:122869236:G:T 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 1,.,. recessive HG002 HG002 chr1:122872597:A:T 2,.,. -1 -1 -1 -1 -1 -1 204,.,. 0.980392,.,. recessive HG002 HG002 chr1:122883350:A:C 2,.,. -1 -1 -1 -1 -1 -1 170,.,. 0.982353,.,. recessive HG002 HG002 chr1:122886705:T:C 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 0.99005,.,. recessive HG002 HG002 chr1:122889992:C:G 2,.,. -1 -1 -1 -1 -1 -1 283,.,. 0.996466,.,. recessive HG002 HG002 chr1:122891819:G:C 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr1:122899971:C:A 2,.,. -1 -1 -1 -1 -1 -1 241,.,. 1,.,. recessive HG002 HG002 chr1:122900010:A:T 2,.,. -1 -1 -1 -1 -1 -1 282,.,. 0.996454,.,. recessive HG002 HG002 chr1:122901851:T:C 2,.,. -1 -1 -1 -1 -1 -1 270,.,. 1,.,. recessive HG002 HG002 chr1:122911793:G:A 2,.,. -1 -1 -1 -1 -1 -1 183,.,. 0.994536,.,. recessive HG002 HG002 chr1:122912105:T:C 2,.,. -1 -1 -1 -1 -1 -1 188,.,. 1,.,. recessive HG002 HG002 chr1:122914237:A:G 2,.,. -1 -1 -1 -1 -1 -1 186,.,. 1,.,. recessive HG002 HG002 chr1:122914451:A:C 2,.,. -1 -1 -1 -1 -1 -1 184,.,. 0.994565,.,. recessive HG002 HG002 chr1:122919737:G:C 2,.,. -1 -1 -1 -1 -1 -1 151,.,. 1,.,. recessive HG002 HG002 chr1:122920568:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.980645,.,. recessive HG002 HG002 chr1:122927439:A:T 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 0.985507,.,. recessive HG002 HG002 chr1:122931279:G:A 2,.,. -1 -1 -1 -1 -1 -1 178,.,. 1,.,. recessive HG002 HG002 chr1:122931960:T:A 2,.,. -1 -1 -1 -1 -1 -1 190,.,. 1,.,. recessive HG002 HG002 chr1:122935250:T:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr1:122939100:C:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr1:122939892:G:T 2,.,. -1 -1 -1 -1 -1 -1 210,.,. 0.995238,.,. recessive HG002 HG002 chr1:122953636:G:A 2,.,. -1 -1 -1 -1 -1 -1 187,.,. 1,.,. recessive HG002 HG002 chr1:122965830:T:G 2,.,. -1 -1 -1 -1 -1 -1 114,.,. 1,.,. recessive HG002 HG002 chr1:122966446:A:C 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr1:122967546:G:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr1:122972411:T:A 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 0.989247,.,. recessive HG002 HG002 chr1:122976727:G:C 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr1:122976804:G:C 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr1:122978505:C:G 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr1:122978510:C:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr1:122984251:C:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr1:122988375:C:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr1:122997596:G:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr1:122999660:A:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr1:122999909:T:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.980769,.,. recessive HG002 HG002 chr1:123005557:A:C 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr1:123009613:A:T 2,.,. -1 -1 -1 0.00210231 3 6 75,.,. 1,.,. recessive HG002 HG002 chr1:123011927:T:G 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr1:123011938:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr1:123019103:C:T 2,.,. -1 -1 -1 -1 -1 -1 128,.,. 0.984375,.,. recessive HG002 HG002 chr1:123019333:A:T 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 1,.,. recessive HG002 HG002 chr1:123034300:A:G 2,.,. -1 -1 -1 -1 -1 -1 150,.,. 0.993333,.,. recessive HG002 HG002 chr1:123044928:A:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.990741,.,. recessive HG002 HG002 chr1:123045988:A:C 2,.,. -1 -1 -1 -1 -1 -1 123,.,. 1,.,. recessive HG002 HG002 chr1:123047070:AAG:A 2,.,. -1 -1 -1 -1 -1 -1 130,.,. 1,.,. recessive HG002 HG002 chr1:123047073:C:G 2,.,. -1 -1 -1 -1 -1 -1 128,.,. 1,.,. recessive HG002 HG002 chr1:123048450:T:A 2,.,. -1 -1 -1 -1 -1 -1 150,.,. 1,.,. recessive HG002 HG002 chr1:123050461:G:A 2,.,. -1 -1 -1 -1 -1 -1 167,.,. 0.982036,.,. recessive HG002 HG002 chr1:123050622:C:T 2,.,. -1 -1 -1 -1 -1 -1 161,.,. 0.987578,.,. recessive HG002 HG002 chr1:123050799:A:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.987179,.,. recessive HG002 HG002 chr1:123051888:G:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.993631,.,. recessive HG002 HG002 chr1:123052962:A:G 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr1:123053008:T:G 2,.,. -1 -1 -1 -1 -1 -1 125,.,. 1,.,. recessive HG002 HG002 chr1:123054790:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr1:123055562:G:A 2,.,. -1 -1 -1 -1 -1 -1 147,.,. 0.986395,.,. recessive HG002 HG002 chr1:123081743:A:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr1:123081810:C:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr1:123082572:C:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr1:123089982:G:A 2,.,. -1 -1 -1 -1 -1 -1 183,.,. 0.989071,.,. recessive HG002 HG002 chr1:123096775:C:G 2,.,. -1 -1 -1 -1 -1 -1 202,.,. 1,.,. recessive HG002 HG002 chr1:123103654:T:A 2,.,. -1 -1 -1 -1 -1 -1 190,.,. 1,.,. recessive HG002 HG002 chr1:123123553:C:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 0.989796,.,. recessive HG002 HG002 chr1:123134270:G:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr1:123146389:A:T 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr1:123151806:A:T 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr1:123152684:C:G 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 0.991304,.,. recessive HG002 HG002 chr1:123157149:C:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr1:123180287:G:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr1:123187719:T:A 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 0.985294,.,. recessive HG002 HG002 chr1:123194134:G:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr1:123194135:C:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr1:123194898:C:A 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr1:123215253:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr1:123215640:G:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr1:123219739:T:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr1:123219741:A:G 2,.,. -1 -1 -1 0.00140154 2 4 58,.,. 1,.,. recessive HG002 HG002 chr1:123219981:A:G 2,.,. -1 -1 -1 0.0024527 1 7 49,.,. 1,.,. recessive HG002 HG002 chr1:123220000:T:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr1:123223997:T:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.982143,.,. recessive HG002 HG002 chr1:123231221:C:A 2,.,. -1 -1 -1 0.00280308 4 8 42,.,. 1,.,. recessive HG002 HG002 chr1:123241207:T:A 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr1:123244688:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr1:123244756:G:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.982759,.,. recessive HG002 HG002 chr1:123248216:C:G 2,.,. -1 -1 -1 0.00140154 2 4 56,.,. 0.982143,.,. recessive HG002 HG002 chr1:123248218:G:C 2,.,. -1 -1 -1 0.00140154 2 4 56,.,. 1,.,. recessive HG002 HG002 chr1:123248767:G:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr1:123258207:T:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr1:123263250:T:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr1:123263627:T:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr1:123263652:C:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr1:123283549:A:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr1:123288214:G:C 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.982456,.,. recessive HG002 HG002 chr1:123289373:T:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr1:123291377:G:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.981132,.,. recessive HG002 HG002 chr1:123292384:C:T 2,.,. -1 -1 -1 0.00665732 2 19 51,.,. 1,.,. recessive HG002 HG002 chr1:123293368:C:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr1:123298652:T:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr1:123299289:G:T 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr1:123303243:G:A 2,.,. -1 -1 -1 -1 -1 -1 128,.,. 1,.,. recessive HG002 HG002 chr1:123309477:C:T 2,.,. -1 -1 -1 -1 -1 -1 123,.,. 1,.,. recessive HG002 HG002 chr1:123309485:G:A 2,.,. -1 -1 -1 -1 -1 -1 121,.,. 0.983471,.,. recessive HG002 HG002 chr1:123313437:T:G 2,.,. -1 -1 -1 -1 -1 -1 95,.,. 0.989474,.,. recessive HG002 HG002 chr1:123319502:T:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr1:123323957:C:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr1:123323989:C:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr1:123326040:T:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr1:123326044:C:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr1:123326049:A:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr1:123330127:G:C 2,.,. -1 -1 -1 0.00280308 4 8 41,.,. 1,.,. recessive HG002 HG002 chr1:123333072:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr1:123333073:G:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr1:123333148:A:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr1:123333156:A:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr1:123334360:T:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr1:123334991:C:T 2,.,. -1 -1 -1 0.00175193 1 5 36,.,. 1,.,. recessive HG002 HG002 chr1:123340487:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr1:123344568:C:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr1:123346657:G:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 0.986111,.,. recessive HG002 HG002 chr1:123347738:C:T 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 0.985507,.,. recessive HG002 HG002 chr1:123353804:C:A 2,.,. -1 -1 -1 0.00280308 4 8 76,.,. 1,.,. recessive HG002 HG002 chr1:123366097:G:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr1:123366169:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr1:123366270:C:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr1:123372233:G:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr1:123382487:T:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr1:123384462:A:C 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr1:123385011:T:G 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr1:123390392:A:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr1:123390407:T:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr1:123390413:A:G 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr1:123390468:T:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr1:123390477:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr1:123391358:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr1:123393363:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr1:123394493:T:G 2,.,. -1 -1 -1 0.00315347 2 9 60,.,. 0.983333,.,. recessive HG002 HG002 chr1:123394496:T:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr1:123410917:T:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr1:123416748:A:G 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr1:123425501:C:T 2,.,. -1 -1 -1 -1 -1 -1 182,.,. 1,.,. recessive HG002 HG002 chr1:123428500:C:T 2,.,. -1 -1 -1 -1 -1 -1 314,.,. 0.993631,.,. recessive HG002 HG002 chr1:123429160:T:C 2,.,. -1 -1 -1 -1 -1 -1 357,.,. 0.980392,.,. recessive HG002 HG002 chr1:123430412:A:C 2,.,. -1 -1 -1 -1 -1 -1 351,.,. 1,.,. recessive HG002 HG002 chr1:123432916:T:G 2,.,. -1 -1 -1 -1 -1 -1 470,.,. 0.997872,.,. recessive HG002 HG002 chr1:123436002:C:A 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr1:123436047:A:T 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 0.985507,.,. recessive HG002 HG002 chr1:123437953:A:C 2,.,. -1 -1 -1 -1 -1 -1 352,.,. 1,.,. recessive HG002 HG002 chr1:123437990:G:T 2,.,. -1 -1 -1 -1 -1 -1 347,.,. 0.997118,.,. recessive HG002 HG002 chr1:123446318:T:G 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 0.986842,.,. recessive HG002 HG002 chr1:123454199:TC:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr1:123456564:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr1:123456566:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr1:123457011:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr1:123459237:T:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr1:123464431:G:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr1:123465801:G:A 2,.,. -1 -1 -1 0.00315347 3 9 57,.,. 0.982456,.,. recessive HG002 HG002 chr1:123467245:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr1:123469588:T:C 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 0.985507,.,. recessive HG002 HG002 chr1:123474068:A:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr1:123488580:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr1:123500187:T:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr1:123501363:C:T 2,.,. -1 -1 -1 0.00280308 4 8 30,.,. 1,.,. recessive HG002 HG002 chr1:123501552:C:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr1:123505409:C:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr1:123507029:CAG:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr1:123507035:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr1:123507328:A:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr1:123507443:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr1:123513734:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr1:123521227:G:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr1:123523494:A:T 2,.,. -1 -1 -1 0.00280308 4 8 57,.,. 1,.,. recessive HG002 HG002 chr1:123546233:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr1:123546435:A:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr1:123552450:C:G 2,.,. -1 -1 -1 -1 -1 -1 123,.,. 1,.,. recessive HG002 HG002 chr1:123554755:C:A 2,.,. -1 -1 -1 -1 -1 -1 148,.,. 1,.,. recessive HG002 HG002 chr1:123554846:C:T 2,.,. -1 -1 -1 -1 -1 -1 149,.,. 1,.,. recessive HG002 HG002 chr1:123555779:C:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr1:123558823:T:C 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 0.987288,.,. recessive HG002 HG002 chr1:123562077:A:C 2,.,. -1 -1 -1 -1 -1 -1 204,.,. 1,.,. recessive HG002 HG002 chr1:123572301:T:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr1:123578087:A:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr1:123580478:T:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr1:123582999:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr1:123591648:A:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr1:123596076:GA:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr1:123596885:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr1:123597647:A:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr1:123597974:C:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr1:123599779:A:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr1:123599787:C:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr1:123599789:T:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr1:123599797:G:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr1:123600911:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr1:123602767:G:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr1:123602777:T:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr1:123612203:C:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr1:123619432:T:G 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr1:123619484:T:G 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.992857,.,. recessive HG002 HG002 chr1:123622384:T:C 2,.,. -1 -1 -1 -1 -1 -1 194,.,. 1,.,. recessive HG002 HG002 chr1:123623342:T:A 2,.,. -1 -1 -1 0.00140154 2 4 165,.,. 0.993939,.,. recessive HG002 HG002 chr1:123624454:G:A 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 0.995169,.,. recessive HG002 HG002 chr1:123624585:C:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr1:123624587:T:G 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 0.995215,.,. recessive HG002 HG002 chr1:123627298:C:G 2,.,. -1 -1 -1 -1 -1 -1 203,.,. 0.985222,.,. recessive HG002 HG002 chr1:123627303:C:G 2,.,. -1 -1 -1 0.00210231 3 6 198,.,. 1,.,. recessive HG002 HG002 chr1:123630771:G:C 2,.,. -1 -1 -1 0.00280308 3 8 188,.,. 0.989362,.,. recessive HG002 HG002 chr1:123645690:T:G 2,.,. -1 -1 -1 -1 -1 -1 175,.,. 0.994286,.,. recessive HG002 HG002 chr1:123645938:C:A 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 1,.,. recessive HG002 HG002 chr1:123645997:A:T 2,.,. -1 -1 -1 -1 -1 -1 178,.,. 0.994382,.,. recessive HG002 HG002 chr1:123650119:T:C 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr1:123650494:G:T 2,.,. -1 -1 -1 -1 -1 -1 167,.,. 1,.,. recessive HG002 HG002 chr1:123653141:C:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr1:123654212:A:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr1:123654217:G:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr1:123654547:G:C 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr1:123665087:C:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.981132,.,. recessive HG002 HG002 chr1:123667063:T:A 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 0.984375,.,. recessive HG002 HG002 chr1:123667072:T:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr1:123674307:C:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr1:123676487:T:C 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr1:123687792:C:G 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 0.988889,.,. recessive HG002 HG002 chr1:123709237:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr1:123710725:C:G 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr1:123715757:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr1:123715787:C:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr1:123724651:A:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr1:123728766:T:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr1:123734617:A:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr1:123735899:T:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.982143,.,. recessive HG002 HG002 chr1:123738928:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.980769,.,. recessive HG002 HG002 chr1:123746062:A:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 0.983871,.,. recessive HG002 HG002 chr1:123746316:T:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 0.983871,.,. recessive HG002 HG002 chr1:123748183:C:A 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr1:123748186:G:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr1:123751010:T:G 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr1:123751034:A:C 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr1:123769431:G:A 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr1:123769472:T:C 2,.,. -1 -1 -1 -1 -1 -1 91,.,. 1,.,. recessive HG002 HG002 chr1:123770741:T:C 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 0.980392,.,. recessive HG002 HG002 chr1:123770755:G:C 2,.,. -1 -1 -1 -1 -1 -1 114,.,. 1,.,. recessive HG002 HG002 chr1:123787445:G:C 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr1:123797839:T:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.982143,.,. recessive HG002 HG002 chr1:123802303:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr1:123804023:G:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr1:123815409:G:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr1:123821041:C:G 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 0.985507,.,. recessive HG002 HG002 chr1:123821046:C:G 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr1:123825284:C:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr1:123825526:T:A 2,.,. -1 -1 -1 0.00140154 2 4 42,.,. 1,.,. recessive HG002 HG002 chr1:123825533:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr1:123829134:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr1:123831441:C:T 2,.,. -1 -1 -1 0.00210231 3 6 57,.,. 1,.,. recessive HG002 HG002 chr1:123833958:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr1:123835123:A:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr1:123843548:C:G 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr1:123843554:C:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr1:123843555:T:G 2,.,. -1 -1 -1 0.0024527 3 7 65,.,. 1,.,. recessive HG002 HG002 chr1:123846523:T:G 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr1:123846566:G:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr1:123846577:T:C 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr1:123846626:T:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 0.987654,.,. recessive HG002 HG002 chr1:123846647:G:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr1:123849430:T:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr1:123863734:A:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 0.986111,.,. recessive HG002 HG002 chr1:123865623:A:C 2,.,. -1 -1 -1 0.00140154 2 4 43,.,. 1,.,. recessive HG002 HG002 chr1:123866301:A:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr1:123866304:T:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr1:123872216:A:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.99115,.,. recessive HG002 HG002 chr1:123878326:C:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr1:123889479:C:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr1:123896272:G:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 0.989362,.,. recessive HG002 HG002 chr1:123900680:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr1:123922034:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr1:123922673:C:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr1:123924723:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr1:123926678:G:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr1:123929007:C:G 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr1:123931236:G:T 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr1:123931874:G:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 0.985915,.,. recessive HG002 HG002 chr1:123933021:G:A 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 0.985714,.,. recessive HG002 HG002 chr1:123933200:A:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr1:123933997:G:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr1:123938648:G:A 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr1:123939621:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr1:123947410:G:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr1:123951797:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr1:123951807:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr1:123953713:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr1:123953749:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr1:123957926:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr1:123957976:A:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr1:123958006:A:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr1:123960961:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr1:123960970:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr1:123960990:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr1:123961071:A:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr1:123961750:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr1:123961898:T:G 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr1:123961922:A:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr1:123971342:A:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr1:123977762:C:G 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr1:123977774:G:C 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr1:123977789:A:G 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 0.990909,.,. recessive HG002 HG002 chr1:123991307:T:C 2,.,. -1 -1 -1 0.00210231 3 6 75,.,. 0.986667,.,. recessive HG002 HG002 chr1:123991361:T:A 2,.,. -1 -1 -1 0.00210231 3 6 78,.,. 1,.,. recessive HG002 HG002 chr1:123995364:A:G 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr1:123997454:G:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr1:123999478:T:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. recessive HG002 HG002 chr1:124004486:T:A 2,.,. -1 -1 -1 -1 -1 -1 101,.,. 0.990099,.,. recessive HG002 HG002 chr1:124004508:G:A 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr1:124005448:A:T 2,.,. -1 -1 -1 -1 -1 -1 121,.,. 1,.,. recessive HG002 HG002 chr1:124008292:G:A 2,.,. -1 -1 -1 -1 -1 -1 150,.,. 1,.,. recessive HG002 HG002 chr1:124009431:G:T 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 1,.,. recessive HG002 HG002 chr1:124009432:T:C 2,.,. -1 -1 -1 -1 -1 -1 161,.,. 0.993789,.,. recessive HG002 HG002 chr1:124009485:A:T 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.99375,.,. recessive HG002 HG002 chr1:124010519:A:G 2,.,. -1 -1 -1 0.00140154 2 4 150,.,. 1,.,. recessive HG002 HG002 chr1:124010525:G:C 2,.,. -1 -1 -1 -1 -1 -1 152,.,. 1,.,. recessive HG002 HG002 chr1:124011629:A:T 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 0.993151,.,. recessive HG002 HG002 chr1:124012501:A:G 2,.,. -1 -1 -1 -1 -1 -1 132,.,. 1,.,. recessive HG002 HG002 chr1:124014583:A:T 2,.,. -1 -1 -1 -1 -1 -1 164,.,. 0.981707,.,. recessive HG002 HG002 chr1:124014584:C:T 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 0.993976,.,. recessive HG002 HG002 chr1:124019505:A:G 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr1:124024913:C:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr1:124024914:G:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr1:124024921:A:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr1:124024941:G:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr1:124028082:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr1:124030466:T:G 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr1:124045038:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr1:124049150:C:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr1:124052084:T:A 2,.,. -1 -1 -1 0.00280308 4 8 47,.,. 1,.,. recessive HG002 HG002 chr1:124052085:G:C 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr1:124068815:A:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr1:124075965:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr1:124079695:G:A 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 0.985714,.,. recessive HG002 HG002 chr1:124081297:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr1:124082412:T:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr1:124084225:T:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr1:124085909:T:A 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 0.990196,.,. recessive HG002 HG002 chr1:124090066:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr1:124096689:G:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr1:124098387:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr1:124103818:A:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr1:124108925:T:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr1:124112772:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.980769,.,. recessive HG002 HG002 chr1:124113386:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr1:124120917:T:G 2,.,. -1 -1 -1 -1 -1 -1 91,.,. 1,.,. recessive HG002 HG002 chr1:124120961:C:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr1:124121042:T:A 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr1:124123004:C:T 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr1:124123982:A:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr1:124123983:C:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr1:124126039:T:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 0.989362,.,. recessive HG002 HG002 chr1:124127049:T:C 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 0.981132,.,. recessive HG002 HG002 chr1:124129159:A:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr1:124129201:G:A 2,.,. -1 -1 -1 -1 -1 -1 91,.,. 0.989011,.,. recessive HG002 HG002 chr1:124130000:T:C 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr1:124130994:A:G 2,.,. -1 -1 -1 0.0248774 3 71 81,.,. 0.987654,.,. recessive HG002 HG002 chr1:124131101:C:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr1:124170105:G:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr1:124172079:A:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr1:124173739:T:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr1:124174288:T:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr1:124190383:A:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr1:124200405:A:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr1:124200541:T:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr1:124214874:T:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr1:124218769:A:T 2,.,. -1 -1 -1 -1 -1 -1 239,.,. 0.983264,.,. recessive HG002 HG002 chr1:124221029:G:A 2,.,. -1 -1 -1 -1 -1 -1 318,.,. 0.996855,.,. recessive HG002 HG002 chr1:124222535:A:G 2,.,. -1 -1 -1 -1 -1 -1 462,.,. 0.982684,.,. recessive HG002 HG002 chr1:124222756:C:T 2,.,. -1 -1 -1 -1 -1 -1 393,.,. 0.989822,.,. recessive HG002 HG002 chr1:124222760:T:G 2,.,. -1 -1 -1 -1 -1 -1 392,.,. 0.997449,.,. recessive HG002 HG002 chr1:124226953:C:A 2,.,. -1 -1 -1 -1 -1 -1 315,.,. 1,.,. recessive HG002 HG002 chr1:124227013:A:G 2,.,. -1 -1 -1 -1 -1 -1 280,.,. 0.989286,.,. recessive HG002 HG002 chr1:124227081:G:T 2,.,. -1 -1 -1 -1 -1 -1 320,.,. 0.990625,.,. recessive HG002 HG002 chr1:124228961:G:A 2,.,. -1 -1 -1 -1 -1 -1 337,.,. 1,.,. recessive HG002 HG002 chr1:124229976:A:T 2,.,. -1 -1 -1 -1 -1 -1 361,.,. 0.99723,.,. recessive HG002 HG002 chr1:124229991:T:G 2,.,. -1 -1 -1 -1 -1 -1 358,.,. 0.997207,.,. recessive HG002 HG002 chr1:124231814:G:A 2,.,. -1 -1 -1 -1 -1 -1 332,.,. 0.987952,.,. recessive HG002 HG002 chr1:124233006:A:G 2,.,. -1 -1 -1 -1 -1 -1 301,.,. 0.993355,.,. recessive HG002 HG002 chr1:124242218:A:T 2,.,. -1 -1 -1 -1 -1 -1 151,.,. 0.980132,.,. recessive HG002 HG002 chr1:124249130:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr1:124255797:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr1:124256260:G:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr1:124258200:T:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr1:124259430:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr1:124267281:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr1:124269506:A:T 2,.,. -1 -1 -1 0.00350385 3 10 72,.,. 1,.,. recessive HG002 HG002 chr1:124269820:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 0.989362,.,. recessive HG002 HG002 chr1:124271861:G:T 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr1:124283198:A:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr1:124286932:A:T 2,.,. -1 -1 -1 -1 -1 -1 126,.,. 1,.,. recessive HG002 HG002 chr1:124286993:A:C 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 0.990826,.,. recessive HG002 HG002 chr1:124287024:T:C 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.990741,.,. recessive HG002 HG002 chr1:124287041:A:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr1:124294905:C:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr1:124299180:G:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr1:124302239:A:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr1:124302279:G:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr1:124302302:G:C 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr1:124302457:C:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 0.983871,.,. recessive HG002 HG002 chr1:124303114:A:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.983333,.,. recessive HG002 HG002 chr1:124304430:T:G 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr1:124305421:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr1:124305453:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr1:124305489:G:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr1:124306090:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr1:124307250:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr1:124308430:G:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr1:124308449:G:A 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr1:124308513:C:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr1:124308535:T:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr1:124309399:G:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr1:124310361:A:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr1:124310580:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr1:124311349:A:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr1:124311383:A:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr1:124311411:C:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr1:124312627:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr1:124313296:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr1:124313510:A:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 0.983871,.,. recessive HG002 HG002 chr1:124316515:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr1:124317106:A:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr1:124317113:G:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr1:124317272:T:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr1:124317546:C:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr1:124318680:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr1:124318767:A:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr1:124323959:A:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr1:124324591:A:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr1:124327623:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr1:124327632:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr1:124327688:A:G 2,.,. -1 -1 -1 0.00140154 2 4 39,.,. 1,.,. recessive HG002 HG002 chr1:124332563:G:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr1:124332607:G:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.982143,.,. recessive HG002 HG002 chr1:124345082:C:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr1:124345186:G:C 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr1:124345222:A:G 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr1:124350206:T:A 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr1:124353983:G:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr1:124354079:C:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr1:124357044:G:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr1:124362220:A:G 2,.,. -1 -1 -1 0.0024527 3 7 49,.,. 1,.,. recessive HG002 HG002 chr1:124377865:C:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr1:124379576:G:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr1:124379946:C:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr1:124380931:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr1:124381021:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr1:124382839:G:A 2,.,. -1 -1 -1 0.00140154 2 4 38,.,. 1,.,. recessive HG002 HG002 chr1:124382841:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr1:124382844:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr1:124382889:A:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr1:124391556:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr1:124396913:T:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr1:124399106:A:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr1:124402118:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr1:124407269:G:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr1:124410406:A:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr1:124416447:T:C 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr1:124422385:C:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr1:124423241:C:G 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr1:124427325:A:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr1:124429644:C:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr1:124431685:T:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr1:124432754:T:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr1:124433596:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.980769,.,. recessive HG002 HG002 chr1:124443949:G:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr1:124444567:A:G 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr1:124444635:G:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr1:124455587:G:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr1:124455634:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr1:124455694:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr1:124455702:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr1:124455709:C:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr1:124455716:G:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr1:124466214:G:A 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr1:124473496:G:A 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr1:124481374:A:G 2,.,. -1 -1 -1 -1 -1 -1 125,.,. 0.992,.,. recessive HG002 HG002 chr1:124481993:T:C 2,.,. -1 -1 -1 -1 -1 -1 130,.,. 0.992308,.,. recessive HG002 HG002 chr1:124490481:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr1:124497619:G:A 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr1:124510194:G:A 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 1,.,. recessive HG002 HG002 chr1:124510207:G:A 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 0.992537,.,. recessive HG002 HG002 chr1:124510251:C:T 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr1:124510295:G:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr1:124510301:C:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr1:124510538:T:C 2,.,. -1 -1 -1 -1 -1 -1 151,.,. 0.980132,.,. recessive HG002 HG002 chr1:124533859:G:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr1:124540061:A:C 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr1:124540070:T:G 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr1:124540096:T:A 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr1:124540109:G:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr1:124540932:G:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr1:124543891:A:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr1:124546204:A:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr1:124548139:A:G 2,.,. -1 -1 -1 -1 -1 -1 244,.,. 0.987705,.,. recessive HG002 HG002 chr1:124550606:GT:G 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 0.992883,.,. recessive HG002 HG002 chr1:124553755:T:TG 2,.,. -1 -1 -1 -1 -1 -1 318,.,. 0.996855,.,. recessive HG002 HG002 chr1:124558550:G:T 2,.,. -1 -1 -1 -1 -1 -1 340,.,. 1,.,. recessive HG002 HG002 chr1:124559428:G:C 2,.,. -1 -1 -1 -1 -1 -1 301,.,. 1,.,. recessive HG002 HG002 chr1:124565679:C:A 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr1:124565680:A:G 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 0.983051,.,. recessive HG002 HG002 chr1:124565681:G:A 2,.,. -1 -1 -1 -1 -1 -1 121,.,. 1,.,. recessive HG002 HG002 chr1:124573856:A:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr1:124575842:T:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr1:124582296:T:G 2,.,. -1 -1 -1 0.00280308 4 8 34,.,. 1,.,. recessive HG002 HG002 chr1:124588412:T:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr1:124594542:T:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr1:124595253:C:A 2,.,. -1 -1 -1 0.00140154 2 4 26,.,. 1,.,. recessive HG002 HG002 chr1:124601414:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr1:124604552:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr1:124604568:A:C 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr1:124605755:T:G 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 0.981818,.,. recessive HG002 HG002 chr1:124607793:T:G 2,.,. -1 -1 -1 -1 -1 -1 101,.,. 0.990099,.,. recessive HG002 HG002 chr1:124611534:A:G 2,.,. -1 -1 -1 -1 -1 -1 171,.,. 0.994152,.,. recessive HG002 HG002 chr1:124613921:G:T 2,.,. -1 -1 -1 -1 -1 -1 172,.,. 1,.,. recessive HG002 HG002 chr1:124614596:G:A 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 1,.,. recessive HG002 HG002 chr1:124616744:A:C 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 0.994475,.,. recessive HG002 HG002 chr1:124617934:A:C 2,.,. -1 -1 -1 -1 -1 -1 184,.,. 1,.,. recessive HG002 HG002 chr1:124618814:C:G 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 1,.,. recessive HG002 HG002 chr1:124618843:T:C 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.980769,.,. recessive HG002 HG002 chr1:124631994:T:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr1:124633297:T:A 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr1:124633334:C:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr1:124641014:C:T 2,.,. -1 -1 -1 -1 -1 -1 91,.,. 1,.,. recessive HG002 HG002 chr1:124649939:C:G 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr1:124669323:T:G 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 0.991379,.,. recessive HG002 HG002 chr1:124684648:G:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 0.988636,.,. recessive HG002 HG002 chr1:124684812:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr1:124709246:A:T 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 0.992701,.,. recessive HG002 HG002 chr1:124710430:C:G 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 1,.,. recessive HG002 HG002 chr1:124711043:G:A 2,.,. -1 -1 -1 -1 -1 -1 173,.,. 1,.,. recessive HG002 HG002 chr1:124711330:T:A 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 1,.,. recessive HG002 HG002 chr1:124711385:A:C 2,.,. -1 -1 -1 -1 -1 -1 171,.,. 0.982456,.,. recessive HG002 HG002 chr1:124715412:T:A 2,.,. -1 -1 -1 -1 -1 -1 180,.,. 1,.,. recessive HG002 HG002 chr1:124716390:A:T 2,.,. -1 -1 -1 -1 -1 -1 182,.,. 0.983516,.,. recessive HG002 HG002 chr1:124719285:A:G 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 0.98895,.,. recessive HG002 HG002 chr1:124720337:G:A 2,.,. -1 -1 -1 -1 -1 -1 164,.,. 0.993902,.,. recessive HG002 HG002 chr1:124726940:A:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr1:124728461:C:G 2,.,. -1 -1 -1 0.00175193 2 5 106,.,. 0.990566,.,. recessive HG002 HG002 chr1:124733632:T:G 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 0.989583,.,. recessive HG002 HG002 chr1:124736575:C:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr1:124736727:G:C 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr1:124736806:A:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr1:124736861:C:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr1:124740092:A:T 2,.,. -1 -1 -1 -1 -1 -1 151,.,. 0.993378,.,. recessive HG002 HG002 chr1:124750431:T:A 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 1,.,. recessive HG002 HG002 chr1:124750442:A:G 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 1,.,. recessive HG002 HG002 chr1:124754035:G:C 2,.,. -1 -1 -1 -1 -1 -1 114,.,. 1,.,. recessive HG002 HG002 chr1:124757999:A:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr1:124767591:C:T 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr1:124782914:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr1:124850702:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr1:124850724:T:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr1:124851523:T:G 2,.,. -1 -1 -1 0.00280308 4 8 20,.,. 1,.,. recessive HG002 HG002 chr1:124851765:C:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr1:124905209:A:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr1:124905217:G:T 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr1:124905250:C:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr1:124905258:C:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr1:124905278:C:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr1:124913357:A:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.989899,.,. recessive HG002 HG002 chr1:124913358:T:A 2,.,. -1 -1 -1 -1 -1 -1 203,.,. 0.990148,.,. recessive HG002 HG002 chr1:124922533:A:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 0.989796,.,. recessive HG002 HG002 chr1:124922535:A:C 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 0.989247,.,. recessive HG002 HG002 chr1:124926306:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr1:124926330:G:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr1:124926343:A:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr1:124926384:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr1:143206237:G:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr1:143206551:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr1:143206702:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr1:143206840:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr1:143206858:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr1:143206867:A:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 0.987952,.,. recessive HG002 HG002 chr1:143206996:A:C 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 0.987952,.,. recessive HG002 HG002 chr1:143207559:G:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr1:143207737:T:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr1:143207771:A:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr1:143207780:T:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr1:143208039:T:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr1:143208040:G:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr1:143208130:A:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr1:143208188:T:C 2,.,. 0.00353084 0 279 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr1:143274642:CCT:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr1:143274645:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chr1:143284035:T:G 1,.,. 3.89757e-05 0 4 -1 -1 -1 31,.,. 0.645161,.,. dominant HG002 HG002 chr1:143638378:GGT:G 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.571429,.,. dominant HG002 HG002 chr1:143647454:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.583333,.,. dominant HG002 HG002 chr1:143969094:G:T 1,.,. -1 -1 -1 -1 -1 -1 FAM72C 50_intron 27,.,. 0.703704,.,. FAM72C/intron/ 0.2274 0.5586 1.7870 8 recessive HG002 HG002 chr1:144138958:A:ATTTCCATTTCATTTTCATTATTTCATTTCATCATTTCATTTCACTATTTCATTTCATTTCATCTAATTTCATTTAATTCATTATGTCATTTCATATACTCATTTCATTTCATCTCATATTTTTGATATCATTTTTCATCTCATTTCATCTCAATTCATCTCATTTCATCTCCTCATCTCATCATTTCCTCCTTTCATTACAACATTTCATCTCATTTCTTCTCATCTCATTTCAATTTCATTATTTCATCTCATTTCATTATTTCACCTAATTTCATTATTTCATCTCATCTCATCTCAGTTCATCTGATCTCATTTCATCTCAGCATTTCATCTCATCATTTTTCATCTCATCATTTTTCATCTCATCATTTAATCTCATTTCATTTCATTTGATCTCATCATTTCAGCTCATTTCATGTCACATCTATTCATTTCATCATTTCATTTCAACATTTCATCATTTCATCGCATCATTTCATCTCATCTTTCAATTTCATTTCAATATCATTTCATCATTTCTTTTCATTTCATCTCATTTCATTATTTCATTATTTCATTTCATTTCATCTCATCATTTCATCTCATCATTTTTCATCTCATCATTTTTCATCTCATCATCTCATCTCATCATTTCATCTCATTTCTTCTCATCATTTCATCTCATCATTTTATCTCATTTCATCTCATCTCATTTCAATTTCATTATTTCATTTCATTTCACTTCATTTCATTTCATCTCATTTTATCTCATCTCATTTCATCTCATCATTTCTTCTCGTCTCATCTCATCATTTCACCATTTCATCTCGTTTCATCTCATTTCATCTCATCTCACCTCATATCATCATTTCATCTCATCCTTTCATTTCATCTCATCGTTTCATCTCCTCATTTCATCTCATCTCACCTCAGCATTTC 2,.,. -1 -1 -1 0.00175193 1 5 10,.,. 1,.,. recessive HG002 HG002 chr1:144139312:A:C 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr1:144140041:A:ACATTTCATCTCATTTCATCTCATCATTTCATCCATCATTTCATTTCATCATTTCATCTCATGATTTCATCTCATCTCATCATCTCATTTCATCTCATTATTTCATCTCATTTCATCTCATCTCATTTCATCATTTCATTTCATCATTACATCTCATCATTTTATCTCATTTCATCTCATCCCATCTCATCTCATCATTTCATATCATCTCATCATTTCATCTCATCATTTCATCAAATCTCATCTCATTTCCATTTCATTTTCATTATTTCATTTCATCATTTCATTTCACTATTTCATTTCATTTCATCTAATTTCATTTAATTCATTATGTCATTTCATATACTCATTTCATTTCATCTCATATTTTTGATATCATTTTTCATCTCATTTCATCTCAATTCATCTCATCATTTCATCTCCTCATCTCATCATTTCCTCCTTTCATTACAACATTTCATCTCATTTCTTCTCATCTCATTTCAATTTCATTATTTCATCTCATTTCATTATTTCACCTAATTTCATTATTTCATCTCATCTCATCTCAGTTCATCTGATCTCATTTCATCTCAGCATTTCATCTCATCATTTTTCATCTCATCATTTTTCATCTCATCATTTAATCTCATTTCATTTCATTTGATCTCATCATTTCAGCTCATTTCAAGTCACATCTATTCATTTCATCATTTCATTTCAACATTTCATCATTTCATCGCATCATTTCATCTCATCTTTCACTTTTATTTCAATATCATTTCATCATTTCTTTTCATTTCATCTCATTTCATTATTTCATTATTTCATTTCATTTCATCTCATCATTTCATCTCATCATTTTTCATCTCATCATTTTTCATCTCATCATTTTTCATCTCATCATCTCATCTCATCATTTCATCTCATTTCTTCTCATCATTTCATCTCATCATTTTATCTCATTTCATCTCATCTCATTTCAATTTCATTATTTCATTT 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. dominant HG002 HG002 chr1:144827943:TAATG:T 1,.,. -1 -1 -1 -1 -1 -1 65,.,. 0.230769,.,. dominant HG002 HG002 chr1:145133962:CA:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr1:145766931:C:G 1,.,. -1 -1 -1 -1 -1 -1 RNF115 50_intron 33,.,. 0.545455,.,. RNF115/intron/;RNF115/non_coding/ 0.0001 0.7851 1.2090 6 dominant HG002 HG002 chr1:145766935:GGGCTGAC:G 1,.,. -1 -1 -1 -1 -1 -1 RNF115 50_intron 39,.,. 0.461538,.,. RNF115/intron/;RNF115/non_coding/ 0.0001 0.7851 1.2090 6 recessive HG002 HG002 chr1:146002591:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr1:146437463:GA:G 1,.,. -1 -1 -1 0.00140154 0 4 33,.,. 0.545455,.,. dominant HG002 HG002 chr1:146443710:G:A 1,.,. -1 -1 -1 0.000700771 0 2 40,.,. 0.575,.,. dominant HG002 HG002 chr1:146485255:C:T 1,.,. -1 -1 -1 0.00140154 0 4 HYDIN2 53_non_coding 34,.,. 0.617647,.,. HYDIN2/non_coding/ dominant HG002 HG002 chr1:146657049:A:AAAC 1,.,. -1 -1 -1 -1 -1 -1 HYDIN2 53_non_coding 36,.,. 0.527778,.,. HYDIN2/non_coding/ dominant HG002 HG002 chr1:146657051:C:T 1,.,. -1 -1 -1 -1 -1 -1 HYDIN2 53_non_coding 36,.,. 0.527778,.,. HYDIN2/non_coding/ dominant HG002 HG002 chr1:146976042:C:T 1,.,. -1 -1 -1 -1 -1 -1 NBPF12 50_intron 30,.,. 0.566667,.,. NBPF12/intron/ 0.0000 1.4367 1.7250 8 dominant HG002 HG002 chr1:147067629:C:T 1,.,. 1.97013e-05 0 3 0.000700771 0 2 44,.,. 0.5,.,. dominant HG002 HG002 chr1:147290972:A:G 1,.,. -1 -1 -1 -1 -1 -1 CHD1L 50_intron 41,.,. 0.390244,.,. CHD1L/intron/;CHD1L/non_coding/ 0.0000 0.9628 1.1520 6 recessive HG002 HG002 chr1:147457674:G:A 2,.,. -1 -1 -1 0.0150666 0 43 53,.,. 1,.,. dominant HG002 HG002 chr1:147466841:G:C 1,.,. 2.62916e-05 0 4 -1 -1 -1 33,.,. 0.484848,.,. recessive HG002 HG002 chr1:147570653:T:G 2,.,. 0.000312159 3 16 0.0140154 0 40 BCL9 50_intron 41,.,. 1,.,. BCL9/intron/ 1.0000 0.2680 0.3740 0 dominant HG002 HG002 chr1:147689551:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.791667,.,. recessive HG002 HG002 chr1:147689552:C:A 2,.,. 0.00151025 0 226 0.00175193 0 5 52,.,. 1,.,. dominant HG002 HG002 chr1:147788305:A:G 1,.,. 1.97132e-05 0 3 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr1:147839188:ATG:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr1:147839191:T:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr1:147943955:C:G 1,.,. -1 -1 -1 -1 -1 -1 GPR89B 50_intron 34,.,. 0.588235,.,. GPR89B/non_coding/;GPR89B/intron/ 0.0003 0.8031 1.3010 7 dominant HG002 HG002 chr1:147951528:C:CCCTTAGGA 1,.,. -1 -1 -1 -1 -1 -1 GPR89B 50_intron 27,.,. 0.444444,.,. GPR89B/non_coding/;GPR89B/intron/ 0.0003 0.8031 1.3010 7 dominant HG002 HG002 chr1:147954537:G:T 1,.,. -1 -1 -1 -1 -1 -1 GPR89B 50_intron 35,.,. 0.628571,.,. GPR89B/non_coding/;GPR89B/intron/ 0.0003 0.8031 1.3010 7 dominant HG002 HG002 chr1:148093557:C:G 1,.,. -1 -1 -1 -1 -1 -1 PDE4DIPP1 53_non_coding 43,.,. 0.372093,.,. PDE4DIPP1/non_coding/ recessive HG002 HG002 chr1:148328332:A:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr1:148491559:C:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.625,.,. recessive HG002 HG002 chr1:149408306:C:A 2,.,. -1 -1 -1 0.0024527 0 7 NOTCH2NLC 50_intron 18,.,. 1,.,. NOTCH2NLC/intron/ 0.0633 1.3437 1.9160 9 Neuronal intranuclear inclusion disease;Oculopharyngodistal myopathy 3;Tremor, hereditary essential, 6 0.000 recessive HG002 HG002 chr1:149459624:G:A 2,.,. -1 -1 -1 0.00315347 0 9 NOTCH2NLC 50_intron 21,.,. 1,.,. NOTCH2NLC/intron/ 0.0633 1.3437 1.9160 9 Neuronal intranuclear inclusion disease;Oculopharyngodistal myopathy 3;Tremor, hereditary essential, 6 0.000 dominant HG002 HG002 chr1:149547092:C:T 1,.,. -1 -1 -1 -1 -1 -1 AC242842.3 50_intron 43,.,. 0.27907,.,. AC242842.3/intron/ dominant HG002 HG002 chr1:149607309:C:T 1,.,. -1 -1 -1 -1 -1 -1 LINC00869 53_non_coding 36,.,. 0.472222,.,. LINC00869/non_coding/ dominant HG002 HG002 chr1:149699140:G:A 1,.,. -1 -1 -1 0.00105116 1 3 LINC00869 53_non_coding 42,.,. 0.52381,.,. LINC00869/non_coding/ dominant HG002 HG002 chr1:149699866:C:A 1,.,. -1 -1 -1 0.00105116 1 3 LINC00869 53_non_coding 46,.,. 0.5,.,. LINC00869/non_coding/ dominant HG002 HG002 chr1:149848116:TCA:T 1,.,. -1 -1 -1 -1 -1 -1 H2BC20P 53_non_coding 22,.,. 0.545455,.,. H2BC20P/non_coding/ recessive HG002 HG002 chr1:149976035:A:AAG 2,.,. -1 -1 -1 -1 -1 -1 OTUD7B 50_intron 31,.,. 1,.,. OTUD7B/intron/ 0.8705 0.3738 0.5260 1 recessive HG002 HG002 chr1:149976036:G:A 2,.,. -1 -1 -1 -1 -1 -1 OTUD7B 50_intron 32,.,. 1,.,. OTUD7B/intron/ 0.8705 0.3738 0.5260 1 recessive HG002 HG002 chr1:150124552:C:T 2,.,. 5.70532e-05 3 8 -1 -1 -1 VPS45 50_intron 36,.,. 1,.,. VPS45/intron/;VPS45/non_coding/ 0.0075 0.4610 0.6290 2 Congenital neutropenia-myelofibrosis-nephromegaly syndrome 0.000 recessive HG002 HG002 chr1:150166403:G:T 2,.,. 2.00962e-05 0 3 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr1:150186156:C:T 2,.,. 1.31773e-05 0 2 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr1:150191807:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr1:150191809:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr1:150191810:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr1:150243325:C:T 2,.,. 5.45643e-05 0 8 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr1:150246701:T:A 2,.,. 0.000484704 3 43 0.0196216 1 56 28,.,. 1,.,. recessive HG002 HG002 chr1:150247480:C:T 2,.,. 0.00390625 0 1 0.0112123 2 32 28,.,. 1,.,. recessive HG002 HG002 chr1:150247483:C:T 2,.,. 0.000783131 1 67 0.0112123 2 32 29,.,. 1,.,. recessive HG002 HG002 chr1:150254244:G:A 2,.,. -1 -1 -1 0.00175193 0 5 23,.,. 1,.,. recessive HG002 HG002 chr1:150254245:A:G 2,.,. 0.000172209 0 18 0.00140154 2 4 26,.,. 1,.,. dominant HG002 HG002 chr1:150352651:C:T 1,.,. 1.35875e-05 0 2 -1 -1 -1 PRPF3 50_intron 38,.,. 0.342105,.,. PRPF3/intron/;PRPF3/non_coding/ 1.0000 0.0337 0.0870 0 Retinitis pigmentosa 18 0.000 dominant HG002 HG002 chr1:150352652:G:C 1,.,. -1 -1 -1 -1 -1 -1 PRPF3 50_intron 38,.,. 0.368421,.,. PRPF3/intron/;PRPF3/non_coding/ 1.0000 0.0337 0.0870 0 Retinitis pigmentosa 18 0.000 dominant HG002 HG002 chr1:150352653:A:T 1,.,. -1 -1 -1 -1 -1 -1 PRPF3 50_intron 38,.,. 0.368421,.,. PRPF3/intron/;PRPF3/non_coding/ 1.0000 0.0337 0.0870 0 Retinitis pigmentosa 18 0.000 dominant HG002 HG002 chr1:150352654:G:C 1,.,. -1 -1 -1 -1 -1 -1 PRPF3 50_intron 38,.,. 0.368421,.,. PRPF3/intron/;PRPF3/non_coding/ 1.0000 0.0337 0.0870 0 Retinitis pigmentosa 18 0.000 dominant HG002 HG002 chr1:150352655:A:G 1,.,. -1 -1 -1 -1 -1 -1 PRPF3 50_intron 38,.,. 0.368421,.,. PRPF3/intron/;PRPF3/non_coding/ 1.0000 0.0337 0.0870 0 Retinitis pigmentosa 18 0.000 recessive HG002 HG002 chr1:150539848:AAGGAAGGAAGGCAGGC:A 2,.,. 1.64609e-05 0 1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr1:150539882:C:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr1:151297389:T:C 2,.,. -1 -1 -1 -1 -1 -1 PI4KB 50_intron 31,.,. 1,.,. PI4KB/intron/ 0.9999 0.2949 0.4210 1 Hearing loss, autosomal dominant 87 dominant HG002 HG002 chr1:151696514:G:A 1,.,. -1 -1 -1 -1 -1 -1 SNX27 36_3_prime_utr 29,.,. 0.344828,.,. SNX27/3_prime_utr/ENST00000368843;SNX27/3_prime_utr/ENST00000458013 0.9342 0.3579 0.5200 1 dominant HG002 HG002 chr1:151746337:A:G 1,.,. 1.31486e-05 0 2 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr1:151756677:C:A 1,.,. 1.97182e-05 0 3 -1 -1 -1 42,.,. 0.595238,.,. recessive HG002 HG002 chr1:151772280:T:TTTGGTAGAGA 2,.,. -1 -1 -1 -1 -1 -1 TDRKH 50_intron 37,.,. 1,.,. TDRKH/intron/ 0.0400 0.4385 0.6010 2 recessive HG002 HG002 chr1:151772281:A:T 2,.,. -1 -1 -1 -1 -1 -1 TDRKH 50_intron 39,.,. 1,.,. TDRKH/intron/ 0.0400 0.4385 0.6010 2 dominant HG002 HG002 chr1:152194721:TTTC:T 1,.,. -1 -1 -1 -1 -1 -1 PUDPP2 53_non_coding 38,.,. 0.289474,.,. PUDPP2/non_coding/ dominant HG002 HG002 chr1:152194726:T:C 1,.,. -1 -1 -1 -1 -1 -1 PUDPP2 53_non_coding 15,.,. 0.733333,.,. PUDPP2/non_coding/ dominant HG002 HG002 chr1:152195554:G:GGGAA 1,.,. -1 -1 -1 -1 -1 -1 PUDPP2 53_non_coding 37,.,. 0.648649,.,. PUDPP2/non_coding/ dominant HG002 HG002 chr1:152369064:C:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr1:152391749:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr1:152391750:G:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr1:153190736:T:TGA 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.309524,.,. dominant HG002 HG002 chr1:153190737:A:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.309524,.,. recessive HG002 HG002 chr1:153648011:C:CAAGA 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr1:153648012:G:A 2,.,. 0.000257735 0 38 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr1:153712793:A:T 2,.,. -1 -1 -1 0.00210231 1 6 25,.,. 1,.,. dominant HG002 HG002 chr1:154058295:C:CT 1,.,. 6.58935e-06 0 1 -1 -1 -1 NUP210L 50_intron 42,.,. 0.404762,.,. NUP210L/intron/ 1.0000 0.3319 0.4210 1 Spermatogenic failure 97 dominant HG002 HG002 chr1:154300109:CAAAAAAAA:C 1,.,. 3.8103e-05 0 3 -1 -1 -1 17,.,. 0.705882,.,. dominant HG002 HG002 chr1:154606943:A:AATATAT 1,.,. -1 -1 -1 -1 -1 -1 ADAR 50_intron 32,.,. 0.40625,.,. ADAR/intron/;ADAR/non_coding/ 0.9997 0.3458 0.4490 1 Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities 0.000 dominant HG002 HG002 chr1:154616146:C:T 1,.,. -1 -1 -1 -1 -1 -1 ADAR 50_intron 40,.,. 0.6,.,. ADAR/intron/;ADAR/non_coding/ 0.9997 0.3458 0.4490 1 Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities 0.000 dominant HG002 HG002 chr1:155063784:C:T 1,.,. 6.57108e-06 0 1 -1 -1 -1 EFNA4;AL691442.2 35_5_prime_utr 20,.,. 0.35,.,. EFNA4/5_prime_utr/ENST00000359751;EFNA4/5_prime_utr/ENST00000368409;AL691442.2/5_prime_utr/ENST00000505139;EFNA4/5_prime_utr/ENST00000427683 0.0000 0.9326 1.3320 7 dominant HG002 HG002 chr1:155288172:C:T 1,.,. -1 -1 -1 -1 -1 -1 HCN3 30_synonymous 22,.,. 0.318182,.,. HCN3/synonymous/ENST00000368358 0.0000 0.6182 0.8160 3 dominant HG002 HG002 chr1:155633334:G:A 1,.,. -1 -1 -1 0.000700771 0 2 AL353807.3 53_non_coding 44,.,. 0.454545,.,. AL353807.3/non_coding/ dominant HG002 HG002 chr1:155809999:T:A 1,.,. -1 -1 -1 -1 -1 -1 GON4L 50_intron 24,.,. 0.458333,.,. GON4L/intron/;GON4L/non_coding/ 0.6486 0.4005 0.4900 1 LI-TAKADA-MIYAKE SYNDROME dominant HG002 HG002 chr1:155890818:TTGTTTGTTTTTTTG:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr1:156101632:A:AAGGG 1,.,. -1 -1 -1 -1 -1 -1 LMNA 50_intron 36,.,. 0.472222,.,. LMNA/non_coding/;LMNA/intron/ 1.0000 0.2835 0.4120 1 Hutchinson-Gilford syndrome;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Primary dilated cardiomyopathy;Dilated cardiomyopathy 1A;Mandibuloacral dysplasia with type A lipodystrophy;Charcot-Marie-Tooth disease type 2B1;Congenital muscular dystrophy due to LMNA mutation;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;Heart-hand syndrome, Slovenian type;Familial partial lipodystrophy, Dunnigan type;Restrictive dermopathy 2 0.000 dominant HG002 HG002 chr1:156101636:A:G 1,.,. -1 -1 -1 0.000700771 0 2 LMNA 50_intron 36,.,. 0.527778,.,. LMNA/non_coding/;LMNA/intron/ 1.0000 0.2835 0.4120 1 Hutchinson-Gilford syndrome;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Primary dilated cardiomyopathy;Dilated cardiomyopathy 1A;Mandibuloacral dysplasia with type A lipodystrophy;Charcot-Marie-Tooth disease type 2B1;Congenital muscular dystrophy due to LMNA mutation;Emery-Dreifuss muscular dystrophy 3, autosomal recessive;Heart-hand syndrome, Slovenian type;Familial partial lipodystrophy, Dunnigan type;Restrictive dermopathy 2 0.000 dominant HG002 HG002 chr1:156210709:C:T 1,.,. -1 -1 -1 -1 -1 -1 SLC25A44 36_3_prime_utr 27,.,. 0.481481,.,. SLC25A44/3_prime_utr/ENST00000359511;SLC25A44/3_prime_utr/ENST00000423538 0.0012 0.5707 0.8560 3 dominant HG002 HG002 chr1:156578516:A:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr1:156758602:A:AAAAAATAAATAAAT 1,.,. -1 -1 -1 -1 -1 -1 HDGF 53_non_coding 19,.,. 0.368421,.,. HDGF/non_coding/ 0.9984 0.1883 0.3960 0 recessive HG002 HG002 chr1:156892056:GGC:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr1:157416874:G:T 2,.,. -1 -1 -1 -1 -1 -1 AL732406.1 53_non_coding 36,.,. 1,.,. AL732406.1/non_coding/ dominant HG002 HG002 chr1:157693738:C:CTCTT 1,.,. -1 -1 -1 -1 -1 -1 FCRL3 50_intron 38,.,. 0.526316,.,. FCRL3/intron/;FCRL3/non_coding/ 0.0000 1.1154 1.3370 7 dominant HG002 HG002 chr1:157754045:C:G 1,.,. -1 -1 -1 -1 -1 -1 FCRL2 50_intron 44,.,. 0.477273,.,. FCRL2/intron/;FCRL2/non_coding/ 0.0000 0.8087 1.0240 5 dominant HG002 HG002 chr1:157754049:A:AATATTTCAATAT 1,.,. -1 -1 -1 -1 -1 -1 FCRL2 50_intron 44,.,. 0.477273,.,. FCRL2/intron/;FCRL2/non_coding/ 0.0000 0.8087 1.0240 5 recessive HG002 HG002 chr1:158222654:G:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr1:158319356:T:C 1,.,. -1 -1 -1 0.000700771 0 2 32,.,. 0.53125,.,. dominant HG002 HG002 chr1:158319358:G:C 1,.,. -1 -1 -1 0.000700771 0 2 33,.,. 0.515152,.,. recessive HG002 HG002 chr1:158550224:C:T 2,.,. -1 -1 -1 -1 -1 -1 OR6Y1 50_intron 49,.,. 1,.,. OR6Y1/intron/ 0.0021 1.0102 1.7560 8 recessive HG002 HG002 chr1:158550225:A:C 2,.,. -1 -1 -1 -1 -1 -1 OR6Y1 50_intron 49,.,. 1,.,. OR6Y1/intron/ 0.0021 1.0102 1.7560 8 dominant HG002 HG002 chr1:158615551:C:T 1,.,. -1 -1 -1 -1 -1 -1 SPTA1 50_intron 44,.,. 0.454545,.,. SPTA1/intron/;SPTA1/non_coding/ 0.0000 0.5210 0.5910 2 Pyropoikilocytosis, hereditary;Hereditary spherocytosis type 3;Elliptocytosis 2 0.000 recessive HG002 HG002 chr1:158731267:TGTGGGTCTAGGGA:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr1:158794060:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.384615,.,. dominant HG002 HG002 chr1:158893038:T:A 1,.,. -1 -1 -1 0.00105116 0 3 51,.,. 0.431373,.,. dominant HG002 HG002 chr1:158918237:T:A 1,.,. 1.15168e-05 0 1 -1 -1 -1 29,.,. 0.37931,.,. dominant HG002 HG002 chr1:158918238:A:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.375,.,. dominant HG002 HG002 chr1:158918241:T:A 1,.,. 6.61516e-06 0 1 -1 -1 -1 26,.,. 0.384615,.,. dominant HG002 HG002 chr1:159996255:ATGAAG:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr1:159996263:T:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr1:159996264:A:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. recessive HG002 HG002 chr1:161339662:GTTTTT:G 2,.,. -1 -1 -1 0.0252277 4 72 SDHC 50_intron 24,.,. 1,.,. SDHC/intron/ 0.0482 0.5114 0.8920 4 Carney-Stratakis syndrome;Gastrointestinal stromal tumor;Paragangliomas 3 0.000 dominant HG002 HG002 chr1:161851259:C:A 1,.,. -1 -1 -1 -1 -1 -1 ATF6 50_intron 43,.,. 0.418605,.,. ATF6/intron/;ATF6/non_coding/ 0.0000 0.6568 0.8820 4 Achromatopsia 7 0.000 recessive HG002 HG002 chr1:163180686:G:GTTTTTT 2,.,. -1 -1 -1 0.0269797 1 77 RGS5 50_intron 27,.,. 1,.,. RGS5/intron/;RGS5/non_coding/ 0.0001 0.9813 1.6030 8 Essential hypertension, genetic 0.000 dominant HG002 HG002 chr1:163226181:AAGTG:A 1,.,. -1 -1 -1 -1 -1 -1 RGS5 50_intron 36,.,. 0.444444,.,. RGS5/intron/;RGS5/non_coding/ 0.0001 0.9813 1.6030 8 Essential hypertension, genetic 0.000 dominant HG002 HG002 chr1:163226186:C:G 1,.,. -1 -1 -1 -1 -1 -1 RGS5 50_intron 36,.,. 0.444444,.,. RGS5/intron/;RGS5/non_coding/ 0.0001 0.9813 1.6030 8 Essential hypertension, genetic 0.000 dominant HG002 HG002 chr1:163226190:GATTATAGGCATGAGCCACCGCAC:G 1,.,. -1 -1 -1 -1 -1 -1 RGS5 50_intron 35,.,. 0.428571,.,. RGS5/intron/;RGS5/non_coding/ 0.0001 0.9813 1.6030 8 Essential hypertension, genetic 0.000 recessive HG002 HG002 chr1:164206953:G:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr1:164206961:T:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr1:164206965:T:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr1:164206990:AG:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr1:164206995:T:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr1:164207013:AGGTGGC:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr1:164207050:T:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr1:164207054:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr1:164207060:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr1:164207061:C:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr1:164207074:A:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr1:164207083:C:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr1:164276519:G:GAAGAAAGAAAGA 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.309524,.,. dominant HG002 HG002 chr1:164727408:G:A 1,.,. -1 -1 -1 -1 -1 -1 PBX1 50_intron 52,.,. 0.461538,.,. PBX1/intron/;PBX1/non_coding/ 1.0000 0.0928 0.2120 0 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0.000 recessive HG002 HG002 chr1:165239077:ATG:A 2,.,. -1 -1 -1 -1 -1 -1 LMX1A 50_intron 33,.,. 1,.,. LMX1A/intron/ 0.9940 0.3094 0.4760 1 Autosomal dominant nonsyndromic hearing loss 7 0.000 recessive HG002 HG002 chr1:165239080:A:C 2,.,. -1 -1 -1 -1 -1 -1 LMX1A 50_intron 33,.,. 1,.,. LMX1A/intron/ 0.9940 0.3094 0.4760 1 Autosomal dominant nonsyndromic hearing loss 7 0.000 recessive HG002 HG002 chr1:165239081:T:A 2,.,. -1 -1 -1 -1 -1 -1 LMX1A 50_intron 33,.,. 1,.,. LMX1A/intron/ 0.9940 0.3094 0.4760 1 Autosomal dominant nonsyndromic hearing loss 7 0.000 dominant HG002 HG002 chr1:165381317:C:CACACAT 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr1:165417954:T:C 1,.,. 6.59152e-06 0 1 -1 -1 -1 RXRG 50_intron 41,.,. 0.463415,.,. RXRG/intron/;RXRG/non_coding/ 0.8719 0.3615 0.5420 1 recessive HG002 HG002 chr1:165513649:T:TTAAAC 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr1:165513651:T:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr1:165670962:A:ACT 1,.,. -1 -1 -1 -1 -1 -1 ALDH9A1 50_intron 49,.,. 0.510204,.,. ALDH9A1/intron/;ALDH9A1/non_coding/ 0.0000 0.6664 0.8870 4 dominant HG002 HG002 chr1:165670963:T:C 1,.,. -1 -1 -1 -1 -1 -1 ALDH9A1 50_intron 49,.,. 0.510204,.,. ALDH9A1/intron/;ALDH9A1/non_coding/ 0.0000 0.6664 0.8870 4 dominant HG002 HG002 chr1:165848656:ACACC:A 1,.,. -1 -1 -1 -1 -1 -1 UCK2 50_intron 24,.,. 0.333333,.,. UCK2/intron/ 0.9975 0.2134 0.4210 1 recessive HG002 HG002 chr1:166022638:CTG:C 2,.,. -1 -1 -1 -1 -1 -1 RPS3AP10 53_non_coding 36,.,. 1,.,. RPS3AP10/non_coding/ recessive HG002 HG002 chr1:166022641:A:G 2,.,. -1 -1 -1 -1 -1 -1 RPS3AP10 53_non_coding 36,.,. 1,.,. RPS3AP10/non_coding/ dominant HG002 HG002 chr1:166255411:A:ATATATC 1,.,. 7.58188e-05 0 3 -1 -1 -1 46,.,. 0.478261,.,. recessive HG002 HG002 chr1:166645160:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr1:166645161:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr1:166835574:C:CCTT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.710526,.,. dominant HG002 HG002 chr1:167142720:ATATC:A 1,.,. -1 -1 -1 -1 -1 -1 GPA33 50_intron 28,.,. 0.392857,.,. GPA33/intron/ 0.0000 0.6850 0.9570 4 dominant HG002 HG002 chr1:167357383:C:A 1,.,. -1 -1 -1 -1 -1 -1 POU2F1 50_intron 48,.,. 0.604167,.,. POU2F1/non_coding/;POU2F1/intron/ 1.0000 0.1577 0.2560 0 dominant HG002 HG002 chr1:167412802:C:G 1,.,. -1 -1 -1 -1 -1 -1 POU2F1 50_intron 30,.,. 0.6,.,. POU2F1/intron/;POU2F1/non_coding/ 1.0000 0.1577 0.2560 0 dominant HG002 HG002 chr1:167526315:GAGA:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr1:167526320:G:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr1:168357514:TATAA:T 1,.,. -1 -1 -1 -1 -1 -1 AL022100.1 53_non_coding 31,.,. 0.387097,.,. AL022100.1/non_coding/ dominant HG002 HG002 chr1:168686586:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr1:168785245:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr1:168959616:G:A 1,.,. 6.57877e-06 0 1 0.000700771 0 2 57,.,. 0.368421,.,. dominant HG002 HG002 chr1:168984612:C:T 1,.,. 1.31437e-05 0 2 -1 -1 -1 45,.,. 0.533333,.,. recessive HG002 HG002 chr1:169008023:GGT:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr1:169008026:C:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr1:169051024:T:TCTC 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.58,.,. dominant HG002 HG002 chr1:169051030:T:G 1,.,. 6.58762e-06 0 1 -1 -1 -1 51,.,. 0.568627,.,. dominant HG002 HG002 chr1:169181382:C:A 1,.,. 8.28171e-06 0 1 -1 -1 -1 NME7 50_intron 51,.,. 0.54902,.,. NME7/intron/;NME7/non_coding/ 0.0003 0.7527 1.1970 6 dominant HG002 HG002 chr1:169204728:G:C 1,.,. 2.63293e-05 0 4 -1 -1 -1 NME7 50_intron 59,.,. 0.457627,.,. NME7/intron/;NME7/non_coding/ 0.0003 0.7527 1.1970 6 dominant HG002 HG002 chr1:169251560:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 NME7 50_intron 26,.,. 0.615385,.,. NME7/intron/;NME7/non_coding/ 0.0003 0.7527 1.1970 6 dominant HG002 HG002 chr1:169333922:T:C 1,.,. -1 -1 -1 -1 -1 -1 NME7 50_intron 41,.,. 0.487805,.,. NME7/intron/;NME7/non_coding/ 0.0003 0.7527 1.1970 6 dominant HG002 HG002 chr1:169363152:T:G 1,.,. -1 -1 -1 -1 -1 -1 NME7 50_intron 37,.,. 0.540541,.,. NME7/intron/;NME7/non_coding/ 0.0003 0.7527 1.1970 6 dominant HG002 HG002 chr1:169462007:G:T 1,.,. 2.62881e-05 0 4 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr1:169486918:A:G 1,.,. 2.62826e-05 0 4 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr1:169538513:T:A 1,.,. -1 -1 -1 -1 -1 -1 F5 50_intron 56,.,. 0.660714,.,. F5/intron/ 0.0000 0.6087 0.7040 2 Ischemic stroke;Thrombophilia due to activated protein C resistance;Congenital factor V deficiency;Pregnancy loss, recurrent, susceptibility to, 1 0.000 recessive HG002 HG002 chr1:169556425:T:TAAAAAAAAAAA 2,.,. -1 -1 -1 0.0203224 1 58 F5 50_intron 36,.,. 1,.,. F5/intron/ 0.0000 0.6087 0.7040 2 Ischemic stroke;Thrombophilia due to activated protein C resistance;Congenital factor V deficiency;Pregnancy loss, recurrent, susceptibility to, 1 0.000 recessive HG002 HG002 chr1:169719168:A:C 2,.,. -1 -1 -1 -1 -1 -1 C1orf112 53_non_coding 51,.,. 1,.,. C1orf112/non_coding/ 0.0000 0.6840 0.8850 4 recessive HG002 HG002 chr1:169734686:T:TTAAAA 2,.,. -1 -1 -1 -1 -1 -1 C1orf112;SELE 50_intron 36,.,. 1,.,. C1orf112/non_coding/;SELE/intron/ 0.0000;;0.0000 0.6840;;0.6798 0.8850;;0.8600 4;;3 recessive HG002 HG002 chr1:169734691:A:T 2,.,. -1 -1 -1 -1 -1 -1 C1orf112;SELE 50_intron 38,.,. 1,.,. C1orf112/non_coding/;SELE/intron/ 0.0000;;0.0000 0.6840;;0.6798 0.8850;;0.8600 4;;3 dominant HG002 HG002 chr1:169758544:G:A 1,.,. 6.58311e-06 0 1 -1 -1 -1 C1orf112;SELE 50_intron 50,.,. 0.5,.,. C1orf112/non_coding/;SELE/intron/ 0.0000;;0.0000 0.6840;;0.6798 0.8850;;0.8600 4;;3 dominant HG002 HG002 chr1:170183805:A:G 1,.,. 6.56987e-06 0 1 -1 -1 -1 45,.,. 0.688889,.,. dominant HG002 HG002 chr1:170277787:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.326087,.,. dominant HG002 HG002 chr1:170314106:C:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr1:170501794:T:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.428571,.,. dominant HG002 HG002 chr1:170744201:C:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.541667,.,. dominant HG002 HG002 chr1:170852496:A:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.372093,.,. dominant HG002 HG002 chr1:170957802:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 MROH9 50_intron 39,.,. 0.435897,.,. MROH9/intron/ 0.0000 0.9975 1.2240 6 dominant HG002 HG002 chr1:170972833:C:T 1,.,. 1.66783e-05 0 2 -1 -1 -1 MROH9 50_intron 33,.,. 0.393939,.,. MROH9/intron/ 0.0000 0.9975 1.2240 6 dominant HG002 HG002 chr1:171365114:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr1:171424014:T:C 1,.,. 6.57229e-06 0 1 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr1:171498654:T:G 1,.,. -1 -1 -1 -1 -1 -1 PRRC2C 50_intron 39,.,. 0.487179,.,. PRRC2C/intron/;PRRC2C/non_coding/ 1.0000 0.2342 0.2870 0 dominant HG002 HG002 chr1:171646499:TTG:T 1,.,. -1 -1 -1 -1 -1 -1 MYOC 50_intron 30,.,. 0.333333,.,. MYOC/intron/ 0.0000 0.9905 1.3430 7 Glaucoma 1, open angle, A 0.000 dominant HG002 HG002 chr1:171992116:A:G 1,.,. 6.57013e-06 0 1 -1 -1 -1 DNM3 50_intron 62,.,. 0.483871,.,. DNM3/intron/ 0.0000 0.5294 0.6890 2 dominant HG002 HG002 chr1:172697209:G:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr1:172743778:C:T 1,.,. 1.97195e-05 0 3 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr1:172825445:A:G 1,.,. 1.96887e-05 0 3 -1 -1 -1 48,.,. 0.4375,.,. dominant HG002 HG002 chr1:172973827:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr1:172986264:C:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5625,.,. dominant HG002 HG002 chr1:173077122:C:T 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.433962,.,. dominant HG002 HG002 chr1:173114224:G:A 1,.,. 6.57523e-06 0 1 -1 -1 -1 41,.,. 0.585366,.,. dominant HG002 HG002 chr1:173308256:C:CCTCT 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.318182,.,. dominant HG002 HG002 chr1:173855442:A:G 1,.,. 1.97621e-05 0 3 -1 -1 -1 DARS2 50_intron 34,.,. 0.588235,.,. DARS2/intron/ 0.0000 0.7294 0.9230 4 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 0.000 dominant HG002 HG002 chr1:173947979:A:AAGCAATCC 1,.,. -1 -1 -1 -1 -1 -1 RC3H1 50_intron 36,.,. 0.5,.,. RC3H1/intron/ 0.9982 0.3618 0.4630 1 Hemophagocytic lymphohistiocytosis, familial, 6 dominant HG002 HG002 chr1:173947980:G:T 1,.,. -1 -1 -1 -1 -1 -1 RC3H1 50_intron 36,.,. 0.5,.,. RC3H1/intron/ 0.9982 0.3618 0.4630 1 Hemophagocytic lymphohistiocytosis, familial, 6 dominant HG002 HG002 chr1:174036544:G:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr1:174090038:G:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr1:174150702:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.657143,.,. dominant HG002 HG002 chr1:174197405:C:CTA 1,.,. -1 -1 -1 -1 -1 -1 RABGAP1L 50_intron 53,.,. 0.528302,.,. RABGAP1L/intron/ 0.0007 0.4594 0.5860 2 dominant HG002 HG002 chr1:174197406:A:C 1,.,. -1 -1 -1 -1 -1 -1 RABGAP1L 50_intron 53,.,. 0.528302,.,. RABGAP1L/intron/ 0.0007 0.4594 0.5860 2 dominant HG002 HG002 chr1:174215474:A:T 1,.,. -1 -1 -1 -1 -1 -1 RABGAP1L 50_intron 37,.,. 0.513514,.,. RABGAP1L/intron/ 0.0007 0.4594 0.5860 2 dominant HG002 HG002 chr1:174377761:T:C 1,.,. -1 -1 -1 -1 -1 -1 RABGAP1L 50_intron 51,.,. 0.470588,.,. RABGAP1L/intron/;RABGAP1L/non_coding/ 0.0007 0.4594 0.5860 2 dominant HG002 HG002 chr1:174382158:C:T 1,.,. -1 -1 -1 -1 -1 -1 RABGAP1L 50_intron 45,.,. 0.511111,.,. RABGAP1L/intron/;RABGAP1L/non_coding/ 0.0007 0.4594 0.5860 2 dominant HG002 HG002 chr1:174429740:A:AAAAAAT 1,.,. -1 -1 -1 -1 -1 -1 RABGAP1L 50_intron 42,.,. 0.47619,.,. RABGAP1L/intron/;RABGAP1L/non_coding/ 0.0007 0.4594 0.5860 2 dominant HG002 HG002 chr1:174557212:C:A 1,.,. -1 -1 -1 -1 -1 -1 RABGAP1L 50_intron 45,.,. 0.6,.,. RABGAP1L/intron/;RABGAP1L/non_coding/ 0.0007 0.4594 0.5860 2 dominant HG002 HG002 chr1:174617647:A:G 1,.,. -1 -1 -1 -1 -1 -1 RABGAP1L 50_intron 30,.,. 0.466667,.,. RABGAP1L/intron/;RABGAP1L/non_coding/ 0.0007 0.4594 0.5860 2 dominant HG002 HG002 chr1:174953746:C:G 1,.,. -1 -1 -1 -1 -1 -1 RABGAP1L 50_intron 43,.,. 0.55814,.,. RABGAP1L/intron/ 0.0007 0.4594 0.5860 2 dominant HG002 HG002 chr1:175091557:A:T 1,.,. 8.79972e-05 0 4 -1 -1 -1 TNN 50_intron 30,.,. 0.533333,.,. TNN/intron/ 0.0000 0.9321 1.0890 5 dominant HG002 HG002 chr1:175091558:T:A 1,.,. 6.222e-05 0 3 -1 -1 -1 TNN 50_intron 30,.,. 0.533333,.,. TNN/intron/ 0.0000 0.9321 1.0890 5 dominant HG002 HG002 chr1:175091561:T:A 1,.,. 2.87175e-05 0 3 -1 -1 -1 TNN 50_intron 29,.,. 0.517241,.,. TNN/intron/ 0.0000 0.9321 1.0890 5 dominant HG002 HG002 chr1:175160819:G:T 1,.,. -1 -1 -1 -1 -1 -1 KIAA0040 14_missense 42,.,. 0.404762,.,. KIAA0040/missense/ENST00000423313;KIAA0040/missense/ENST00000444639;KIAA0040/missense/ENST00000545251;KIAA0040/5_prime_utr/ENST00000619513 0.0001 1.3015 1.8830 9 dominant HG002 HG002 chr1:175197284:G:T 1,.,. 6.56996e-06 0 1 -1 -1 -1 38,.,. 0.394737,.,. recessive HG002 HG002 chr1:175231327:A:G 2,.,. 0.00200949 2 72 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr1:175234226:A:C 1,.,. 6.56918e-06 0 1 -1 -1 -1 46,.,. 0.586957,.,. recessive HG002 HG002 chr1:175274706:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. dominant HG002 HG002 chr1:175364910:C:T 1,.,. -1 -1 -1 -1 -1 -1 TNR 50_intron 42,.,. 0.5,.,. TNR/intron/ 1.0000 0.2893 0.3730 0 Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0.000 dominant HG002 HG002 chr1:175376467:T:A 1,.,. -1 -1 -1 -1 -1 -1 TNR 50_intron 34,.,. 0.5,.,. TNR/intron/ 1.0000 0.2893 0.3730 0 Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0.000 dominant HG002 HG002 chr1:175376468:G:GAGTTGAA 1,.,. -1 -1 -1 -1 -1 -1 TNR 50_intron 34,.,. 0.5,.,. TNR/intron/ 1.0000 0.2893 0.3730 0 Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0.000 dominant HG002 HG002 chr1:175419923:A:G 1,.,. -1 -1 -1 -1 -1 -1 TNR 50_intron 36,.,. 0.388889,.,. TNR/intron/ 1.0000 0.2893 0.3730 0 Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0.000 dominant HG002 HG002 chr1:175537722:C:T 1,.,. 1.31397e-05 0 2 -1 -1 -1 TNR 50_intron 34,.,. 0.588235,.,. TNR/intron/ 1.0000 0.2893 0.3730 0 Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0.000 dominant HG002 HG002 chr1:175540975:G:A 1,.,. -1 -1 -1 -1 -1 -1 TNR 50_intron 36,.,. 0.555556,.,. TNR/intron/ 1.0000 0.2893 0.3730 0 Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0.000 dominant HG002 HG002 chr1:175598376:T:A 1,.,. -1 -1 -1 -1 -1 -1 TNR 50_intron 40,.,. 0.4,.,. TNR/intron/ 1.0000 0.2893 0.3730 0 Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0.000 dominant HG002 HG002 chr1:175642732:G:A 1,.,. -1 -1 -1 -1 -1 -1 TNR 50_intron 34,.,. 0.647059,.,. TNR/intron/ 1.0000 0.2893 0.3730 0 Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0.000 dominant HG002 HG002 chr1:175858213:A:G 1,.,. 6.62436e-06 0 1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr1:175916325:G:GAAAGCCTTTAAGT 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr1:175916327:T:C 1,.,. 6.58328e-06 0 1 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr1:176014676:A:G 1,.,. 6.5697e-06 0 1 -1 -1 -1 COP1 50_intron 35,.,. 0.542857,.,. COP1/intron/;COP1/non_coding/ 0.9246 0.2964 0.5570 1 dominant HG002 HG002 chr1:176323119:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr1:176323120:GTAAAACCTGTTTTACCC:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr1:176388576:T:G 1,.,. 6.56935e-06 0 1 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr1:176473611:G:A 1,.,. 1.9699e-05 0 3 -1 -1 -1 PAPPA2 50_intron 42,.,. 0.619048,.,. PAPPA2/intron/ 0.0000 0.4555 0.5490 1 Short stature, Dauber-Argente type 0.000 dominant HG002 HG002 chr1:176751984:C:T 1,.,. -1 -1 -1 -1 -1 -1 PAPPA2 50_intron 37,.,. 0.432432,.,. PAPPA2/intron/ 0.0000 0.4555 0.5490 1 Short stature, Dauber-Argente type 0.000 dominant HG002 HG002 chr1:176765770:G:A 1,.,. 1.31491e-05 0 2 -1 -1 -1 PAPPA2 14_missense 42,.,. 0.452381,.,. PAPPA2/missense/ENST00000367662 0.0000 0.4555 0.5490 1 Short stature, Dauber-Argente type 0.000 dominant HG002 HG002 chr1:176905532:G:A 1,.,. 1.31444e-05 0 2 -1 -1 -1 ASTN1 50_intron 33,.,. 0.575758,.,. ASTN1/intron/ 1.0000 0.3019 0.3920 0 dominant HG002 HG002 chr1:177056581:ATAT:A 1,.,. -1 -1 -1 -1 -1 -1 ASTN1 50_intron 33,.,. 0.424242,.,. ASTN1/intron/;ASTN1/non_coding/ 1.0000 0.3019 0.3920 0 dominant HG002 HG002 chr1:177210639:A:G 1,.,. -1 -1 -1 -1 -1 -1 BRINP2 50_intron 38,.,. 0.394737,.,. BRINP2/intron/ 1.0000 0.2798 0.4110 1 dominant HG002 HG002 chr1:177481516:C:T 1,.,. 1.31515e-05 0 2 -1 -1 -1 42,.,. 0.380952,.,. dominant HG002 HG002 chr1:177495656:T:C 1,.,. 6.58059e-06 0 1 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr1:177535869:A:G 1,.,. 1.31458e-05 0 2 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr1:177553420:C:T 1,.,. 2.63407e-05 0 4 -1 -1 -1 36,.,. 0.611111,.,. recessive HG002 HG002 chr1:177615055:A:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr1:177660383:C:A 1,.,. 1.31446e-05 0 2 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr1:177762579:A:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.627907,.,. dominant HG002 HG002 chr1:178036474:T:G 1,.,. -1 -1 -1 -1 -1 -1 CRYZL2P-SEC16B;CRYZL2P 53_non_coding 45,.,. 0.511111,.,. CRYZL2P-SEC16B/non_coding/;CRYZL2P/non_coding/ dominant HG002 HG002 chr1:178230694:A:C 1,.,. 1.31451e-05 0 2 -1 -1 -1 RASAL2 50_intron 47,.,. 0.574468,.,. RASAL2/intron/;RASAL2/non_coding/ 0.0054 0.4378 0.5520 1 dominant HG002 HG002 chr1:178501767:AAGT:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.655172,.,. dominant HG002 HG002 chr1:178501771:C:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.655172,.,. dominant HG002 HG002 chr1:178592274:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.636364,.,. recessive HG002 HG002 chr1:178670919:C:CCA 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr1:178670920:A:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr1:179148912:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 ABL2 50_intron 43,.,. 0.465116,.,. ABL2/intron/;ABL2/non_coding/ 0.0010 0.4547 0.5780 1 dominant HG002 HG002 chr1:179333798:CCT:C 1,.,. -1 -1 -1 -1 -1 -1 SOAT1 50_intron 42,.,. 0.52381,.,. SOAT1/intron/ 0.0000 0.7245 0.9880 5 dominant HG002 HG002 chr1:179333801:C:A 1,.,. -1 -1 -1 -1 -1 -1 SOAT1 50_intron 42,.,. 0.52381,.,. SOAT1/intron/ 0.0000 0.7245 0.9880 5 dominant HG002 HG002 chr1:179355727:G:C 1,.,. -1 -1 -1 -1 -1 -1 SOAT1 36_3_prime_utr 38,.,. 0.526316,.,. SOAT1/3_prime_utr/ENST00000367619;SOAT1/3_prime_utr/ENST00000540564;SOAT1/3_prime_utr/ENST00000539888 0.0000 0.7245 0.9880 5 dominant HG002 HG002 chr1:179530646:TGTTCAAAA:T 1,.,. -1 -1 -1 -1 -1 -1 AXDND1 50_intron 43,.,. 0.325581,.,. AXDND1/intron/;AXDND1/non_coding/ 0.0000 0.8083 0.9810 4 dominant HG002 HG002 chr1:179530655:G:C 1,.,. -1 -1 -1 -1 -1 -1 AXDND1 50_intron 42,.,. 0.333333,.,. AXDND1/intron/;AXDND1/non_coding/ 0.0000 0.8083 0.9810 4 dominant HG002 HG002 chr1:179758569:T:A 1,.,. 1.31372e-05 0 2 -1 -1 -1 FAM163A 50_intron 39,.,. 0.487179,.,. FAM163A/intron/ 0.0190 0.6412 1.2040 6 dominant HG002 HG002 chr1:179940912:A:G 1,.,. 1.40895e-05 0 2 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr1:180220533:G:T 1,.,. 1.3146e-05 0 2 -1 -1 -1 27,.,. 0.62963,.,. dominant HG002 HG002 chr1:180237551:G:GAAAATGGAAA 1,.,. -1 -1 -1 -1 -1 -1 LHX4 50_intron 26,.,. 0.461538,.,. LHX4/intron/;LHX4/non_coding/ 0.5706 0.3875 0.5890 2 Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0.000 dominant HG002 HG002 chr1:180237552:G:A 1,.,. -1 -1 -1 -1 -1 -1 LHX4 50_intron 26,.,. 0.5,.,. LHX4/intron/;LHX4/non_coding/ 0.5706 0.3875 0.5890 2 Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0.000 dominant HG002 HG002 chr1:180392283:G:T 1,.,. -1 -1 -1 -1 -1 -1 ACBD6 50_intron 59,.,. 0.559322,.,. ACBD6/intron/;ACBD6/non_coding/ 0.0000 0.7133 1.0370 5 Neurodevelopmental disorder with progressive movement abnormalities dominant HG002 HG002 chr1:180505737:A:C 1,.,. 7.12078e-06 0 1 -1 -1 -1 63,.,. 0.333333,.,. dominant HG002 HG002 chr1:180505738:C:A 1,.,. 6.61218e-06 0 1 -1 -1 -1 60,.,. 0.416667,.,. dominant HG002 HG002 chr1:180557421:T:A 1,.,. 6.57056e-06 0 1 -1 -1 -1 47,.,. 0.595745,.,. dominant HG002 HG002 chr1:180596683:A:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.45098,.,. recessive HG002 HG002 chr1:180845762:T:TGGGATTGCA 2,.,. 6.56875e-06 0 1 -1 -1 -1 XPR1 50_intron 44,.,. 1,.,. XPR1/intron/;XPR1/non_coding/ 0.9999 0.3082 0.4300 1 Basal ganglia calcification, idiopathic, 6 0.000 recessive HG002 HG002 chr1:180845764:A:G 2,.,. -1 -1 -1 -1 -1 -1 XPR1 50_intron 44,.,. 1,.,. XPR1/intron/;XPR1/non_coding/ 0.9999 0.3082 0.4300 1 Basal ganglia calcification, idiopathic, 6 0.000 recessive HG002 HG002 chr1:181065572:TCACGCCACTG:T 2,.,. 5.69866e-05 0 1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr1:181065596:G:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr1:181301990:T:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr1:181436896:A:G 1,.,. 1.97096e-05 0 3 -1 -1 -1 CACNA1E 50_intron 42,.,. 0.404762,.,. CACNA1E/intron/ 1.0000 0.1599 0.2210 0 Developmental and epileptic encephalopathy, 69 0.000 dominant HG002 HG002 chr1:181576431:T:A 1,.,. 1.31387e-05 0 2 -1 -1 -1 CACNA1E 50_intron 48,.,. 0.5,.,. CACNA1E/intron/;CACNA1E/non_coding/ 1.0000 0.1599 0.2210 0 Developmental and epileptic encephalopathy, 69 0.000 dominant HG002 HG002 chr1:181581789:A:G 1,.,. 1.31556e-05 0 2 -1 -1 -1 CACNA1E 50_intron 54,.,. 0.537037,.,. CACNA1E/intron/;CACNA1E/non_coding/ 1.0000 0.1599 0.2210 0 Developmental and epileptic encephalopathy, 69 0.000 dominant HG002 HG002 chr1:181803271:C:G 1,.,. -1 -1 -1 -1 -1 -1 CACNA1E 36_3_prime_utr 33,.,. 0.333333,.,. CACNA1E/3_prime_utr/ENST00000367573;CACNA1E/3_prime_utr/ENST00000621791;CACNA1E/3_prime_utr/ENST00000367567;CACNA1E/3_prime_utr/ENST00000621551;CACNA1E/3_prime_utr/ENST00000358338 1.0000 0.1599 0.2210 0 Developmental and epileptic encephalopathy, 69 0.000 dominant HG002 HG002 chr1:181913295:A:G 1,.,. 1.31415e-05 0 2 0.000700771 0 2 41,.,. 0.463415,.,. dominant HG002 HG002 chr1:181981760:T:C 1,.,. 1.31416e-05 0 2 -1 -1 -1 41,.,. 0.463415,.,. recessive HG002 HG002 chr1:182045175:CCTACCTCTAACACTT:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr1:182045200:A:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr1:182130996:C:T 1,.,. 2.62881e-05 0 4 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr1:182296092:G:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr1:182296094:T:TGTTTGTTTTTG 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr1:182298331:GTA:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr1:182536680:C:T 1,.,. 1.31456e-05 0 2 -1 -1 -1 RGSL1 50_intron 43,.,. 0.651163,.,. RGSL1/intron/;RGSL1/non_coding/ 0.0000 0.7306 0.8780 4 dominant HG002 HG002 chr1:182575666:CGCTT:C 1,.,. 1.31399e-05 0 2 -1 -1 -1 RNASEL 50_intron 39,.,. 0.410256,.,. RNASEL/intron/ 0.0000 0.6123 0.8300 3 Prostate cancer, hereditary, 1 0.000 dominant HG002 HG002 chr1:182622730:G:A 1,.,. 1.97884e-05 0 3 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr1:182820120:C:T 1,.,. 1.31382e-05 0 2 -1 -1 -1 NPL 50_intron 39,.,. 0.410256,.,. NPL/non_coding/;NPL/intron/ 0.0000 0.8573 1.1820 6 dominant HG002 HG002 chr1:183055475:A:G 1,.,. 2.02171e-05 0 2 -1 -1 -1 LAMC1 50_intron 46,.,. 0.434783,.,. LAMC1/intron/ 1.0000 0.1964 0.2640 0 dominant HG002 HG002 chr1:183131426:G:GGTGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 LAMC1 50_intron 44,.,. 0.477273,.,. LAMC1/intron/;LAMC1/non_coding/ 1.0000 0.1964 0.2640 0 dominant HG002 HG002 chr1:183149453:T:TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCA 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr1:183195796:C:T 1,.,. 3.87007e-05 0 3 -1 -1 -1 LAMC2 50_intron 28,.,. 0.464286,.,. LAMC2/intron/ 0.0000 0.6708 0.7970 3 Junctional epidermolysis bullosa gravis of Herlitz;Epidermolysis bullosa, junctional 3B, severe;Epidermolysis bullosa, junctional 3A, intermediate 0.000 dominant HG002 HG002 chr1:183195801:C:G 1,.,. -1 -1 -1 -1 -1 -1 LAMC2 50_intron 28,.,. 0.464286,.,. LAMC2/intron/ 0.0000 0.6708 0.7970 3 Junctional epidermolysis bullosa gravis of Herlitz;Epidermolysis bullosa, junctional 3B, severe;Epidermolysis bullosa, junctional 3A, intermediate 0.000 dominant HG002 HG002 chr1:183361272:C:T 1,.,. -1 -1 -1 -1 -1 -1 NMNAT2 50_intron 43,.,. 0.44186,.,. NMNAT2/intron/ 0.9841 0.2832 0.4940 1 dominant HG002 HG002 chr1:183471256:C:T 1,.,. 1.31406e-05 0 2 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr1:183560776:C:CCTTT 1,.,. 1.31427e-05 0 2 -1 -1 -1 SMG7;NCF2 50_intron 38,.,. 0.552632,.,. SMG7/non_coding/;NCF2/intron/ 1.0000;;0.0000 0.2778;;0.6266 0.3710;;0.7990 0;;3 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 0.000 dominant HG002 HG002 chr1:183843834:T:C 1,.,. 1.97254e-05 0 3 -1 -1 -1 RGL1 50_intron 46,.,. 0.586957,.,. RGL1/intron/ 1.0000 0.2081 0.3200 0 dominant HG002 HG002 chr1:183946224:G:C 1,.,. 1.31428e-05 0 2 -1 -1 -1 COLGALT2 35_5_prime_utr 52,.,. 0.519231,.,. COLGALT2/5_prime_utr/ENST00000367521 0.0000 0.6033 0.8000 3 dominant HG002 HG002 chr1:184140532:A:ACT 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr1:184152348:T:G 1,.,. 2.66905e-05 0 4 0.000700771 0 2 39,.,. 0.487179,.,. dominant HG002 HG002 chr1:184200795:A:G 1,.,. 1.31567e-05 0 2 -1 -1 -1 32,.,. 0.375,.,. dominant HG002 HG002 chr1:184390327:A:G 1,.,. 1.97104e-05 0 3 -1 -1 -1 C1orf21 50_intron 43,.,. 0.511628,.,. C1orf21/intron/ 0.9972 0.1108 0.3490 0 dominant HG002 HG002 chr1:184423872:T:C 1,.,. 1.99625e-05 0 3 -1 -1 -1 C1orf21 50_intron 42,.,. 0.47619,.,. C1orf21/intron/ 0.9972 0.1108 0.3490 0 dominant HG002 HG002 chr1:184443803:G:T 1,.,. 1.97228e-05 0 3 -1 -1 -1 C1orf21 50_intron 42,.,. 0.547619,.,. C1orf21/intron/ 0.9972 0.1108 0.3490 0 dominant HG002 HG002 chr1:184548255:A:ACACACT 1,.,. 2.08397e-05 0 3 -1 -1 -1 C1orf21 50_intron 27,.,. 0.407407,.,. C1orf21/intron/;C1orf21/non_coding/ 0.9972 0.1108 0.3490 0 dominant HG002 HG002 chr1:184761517:A:T 1,.,. 1.31391e-05 0 2 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr1:184796914:A:G 1,.,. 1.31382e-05 0 2 -1 -1 -1 NIBAN1 50_intron 35,.,. 0.485714,.,. NIBAN1/intron/;NIBAN1/non_coding/ 0.0000 0.9822 1.2110 6 dominant HG002 HG002 chr1:184835828:C:T 1,.,. 1.97179e-05 0 3 -1 -1 -1 NIBAN1 50_intron 45,.,. 0.666667,.,. NIBAN1/intron/;NIBAN1/non_coding/ 0.0000 0.9822 1.2110 6 dominant HG002 HG002 chr1:185240111:G:C 1,.,. 1.31515e-05 0 2 -1 -1 -1 SWT1 50_intron 42,.,. 0.5,.,. SWT1/intron/ 0.9983 0.2819 0.4480 1 dominant HG002 HG002 chr1:185289286:A:G 1,.,. 1.97117e-05 0 3 -1 -1 -1 SWT1 50_intron 52,.,. 0.538462,.,. SWT1/intron/ 0.9983 0.2819 0.4480 1 dominant HG002 HG002 chr1:185583765:C:CT 1,.,. 2.63404e-05 0 4 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr1:185598521:C:T 1,.,. 1.31479e-05 0 2 -1 -1 -1 49,.,. 0.55102,.,. dominant HG002 HG002 chr1:185999375:C:T 1,.,. -1 -1 -1 -1 -1 -1 HMCN1 50_intron 36,.,. 0.472222,.,. HMCN1/intron/ 0.0000 0.4904 0.5430 1 Age related macular degeneration 1 0.000 dominant HG002 HG002 chr1:186071801:C:A 1,.,. 1.97153e-05 0 3 -1 -1 -1 HMCN1 50_intron 49,.,. 0.469388,.,. HMCN1/intron/ 0.0000 0.4904 0.5430 1 Age related macular degeneration 1 0.000 dominant HG002 HG002 chr1:186368417:G:A 1,.,. 1.31441e-05 0 2 -1 -1 -1 TPR 50_intron 35,.,. 0.457143,.,. TPR/intron/;TPR/non_coding/ 1.0000 0.1589 0.2030 0 Intellectual developmental disorder, autosomal recessive 79 dominant HG002 HG002 chr1:186677117:T:C 1,.,. 1.31449e-05 0 2 -1 -1 -1 PTGS2 50_intron 55,.,. 0.490909,.,. PTGS2/intron/;PTGS2/non_coding/ 1.0000 0.2074 0.3300 0 dominant HG002 HG002 chr1:186805451:C:CATATATAT 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.78125,.,. dominant HG002 HG002 chr1:186850519:G:GAGCT 1,.,. -1 -1 -1 -1 -1 -1 PLA2G4A 50_intron 53,.,. 0.45283,.,. PLA2G4A/intron/ 0.1898 0.4508 0.8900 4 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 0.000 dominant HG002 HG002 chr1:186850521:A:T 1,.,. -1 -1 -1 -1 -1 -1 PLA2G4A 50_intron 53,.,. 0.45283,.,. PLA2G4A/intron/ 0.1898 0.4508 0.8900 4 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 0.000 recessive HG002 HG002 chr1:186937020:ACTTTTATG:A 2,.,. -1 -1 -1 -1 -1 -1 PLA2G4A 50_intron 50,.,. 1,.,. PLA2G4A/intron/;PLA2G4A/non_coding/ 0.1898 0.4508 0.8900 4 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 0.000 dominant HG002 HG002 chr1:186999196:G:A 1,.,. 1.31454e-05 0 2 -1 -1 -1 58,.,. 0.568965,.,. dominant HG002 HG002 chr1:187270663:G:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr1:187271266:T:A 1,.,. 1.31487e-05 0 2 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr1:187346637:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.341463,.,. dominant HG002 HG002 chr1:187348472:T:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.609756,.,. dominant HG002 HG002 chr1:187359385:C:G 1,.,. 2.63078e-05 0 4 -1 -1 -1 35,.,. 0.657143,.,. dominant HG002 HG002 chr1:187402711:A:T 1,.,. 1.3138e-05 0 2 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr1:187445365:C:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr1:187476633:CAA:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.530612,.,. dominant HG002 HG002 chr1:187580513:C:A 1,.,. 1.31511e-05 0 2 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr1:187801158:G:T 1,.,. 1.31518e-05 0 2 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr1:187807886:CTT:C 1,.,. 6.57557e-06 0 1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr1:187845689:C:A 1,.,. 1.31499e-05 0 2 -1 -1 -1 42,.,. 0.547619,.,. recessive HG002 HG002 chr1:187856008:C:CAATGCCA 2,.,. 6.88601e-06 0 1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr1:187856010:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr1:187856133:C:T 1,.,. -1 -1 -1 0.00140154 0 4 46,.,. 0.478261,.,. dominant HG002 HG002 chr1:187946783:T:G 1,.,. 6.57091e-06 0 1 -1 -1 -1 54,.,. 0.444444,.,. dominant HG002 HG002 chr1:188044527:C:T 1,.,. 6.57834e-06 0 1 -1 -1 -1 53,.,. 0.45283,.,. dominant HG002 HG002 chr1:188142908:G:T 1,.,. 1.32633e-05 0 2 -1 -1 -1 50,.,. 0.54,.,. dominant HG002 HG002 chr1:188142909:C:T 1,.,. 1.34297e-05 0 2 -1 -1 -1 51,.,. 0.54902,.,. dominant HG002 HG002 chr1:188201962:A:G 1,.,. 6.57255e-06 0 1 -1 -1 -1 50,.,. 0.5,.,. recessive HG002 HG002 chr1:188283201:AC:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. recessive HG002 HG002 chr1:188283205:T:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr1:188283208:T:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr1:188283211:T:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr1:188283215:A:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. dominant HG002 HG002 chr1:188310267:A:T 1,.,. 0.000130429 0 4 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr1:188351215:A:T 1,.,. 1.31442e-05 0 2 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr1:188486073:A:G 1,.,. 6.96612e-06 0 1 -1 -1 -1 45,.,. 0.622222,.,. recessive HG002 HG002 chr1:188586718:T:A 2,.,. 0.00454287 1 176 0.00280308 0 8 56,.,. 1,.,. dominant HG002 HG002 chr1:188689307:A:G 1,.,. 1.97215e-05 0 3 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr1:188778631:C:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.44,.,. dominant HG002 HG002 chr1:188994005:GCTTAATTCTTAATTAGT:G 1,.,. 6.59231e-06 0 1 -1 -1 -1 37,.,. 0.621622,.,. dominant HG002 HG002 chr1:188994025:G:A 1,.,. 9.7371e-05 0 3 -1 -1 -1 37,.,. 0.621622,.,. dominant HG002 HG002 chr1:188994027:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.621622,.,. dominant HG002 HG002 chr1:188994028:G:C 1,.,. 3.24338e-05 0 1 -1 -1 -1 37,.,. 0.621622,.,. dominant HG002 HG002 chr1:189077669:T:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.5,.,. dominant HG002 HG002 chr1:189077670:A:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.5,.,. dominant HG002 HG002 chr1:189077671:G:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.5,.,. dominant HG002 HG002 chr1:189228681:CA:C 1,.,. 1.3169e-05 0 2 -1 -1 -1 49,.,. 0.408163,.,. dominant HG002 HG002 chr1:189251365:A:G 1,.,. 1.31565e-05 0 2 -1 -1 -1 41,.,. 0.585366,.,. dominant HG002 HG002 chr1:189411895:A:C 1,.,. 1.31447e-05 0 2 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr1:189505072:A:C 1,.,. 1.3146e-05 0 2 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr1:189636771:T:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr1:189739597:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr1:189772832:T:G 1,.,. 1.98324e-05 0 3 -1 -1 -1 52,.,. 0.480769,.,. recessive HG002 HG002 chr1:189818195:ATATGTGTGTGTGTG:A 2,.,. 0.00312195 0 32 0.0150666 3 43 34,.,. 1,.,. recessive HG002 HG002 chr1:189818524:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr1:189960949:A:G 1,.,. 1.31377e-05 0 2 -1 -1 -1 48,.,. 0.541667,.,. dominant HG002 HG002 chr1:190034663:C:T 1,.,. 1.31824e-05 0 2 -1 -1 -1 56,.,. 0.410714,.,. dominant HG002 HG002 chr1:190058565:G:GAGTC 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr1:190058566:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr1:190126257:G:A 1,.,. 1.31676e-05 0 2 -1 -1 -1 BRINP3 50_intron 38,.,. 0.526316,.,. BRINP3/intron/ 1.0000 0.2397 0.3640 0 dominant HG002 HG002 chr1:190570912:A:T 1,.,. 1.31548e-05 0 2 -1 -1 -1 50,.,. 0.7,.,. dominant HG002 HG002 chr1:190970107:ATTG:A 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.45098,.,. dominant HG002 HG002 chr1:190970113:A:C 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.45098,.,. dominant HG002 HG002 chr1:190970114:G:A 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.470588,.,. dominant HG002 HG002 chr1:190985909:T:C 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.461538,.,. dominant HG002 HG002 chr1:191160764:GGGGGGAGGA:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. dominant HG002 HG002 chr1:191258997:G:A 1,.,. -1 -1 -1 0.00105116 0 3 49,.,. 0.510204,.,. dominant HG002 HG002 chr1:191600902:C:CAGACACACACACACAG 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr1:192112629:A:G 1,.,. 1.97171e-05 0 3 -1 -1 -1 43,.,. 0.55814,.,. recessive HG002 HG002 chr1:192234211:A:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. dominant HG002 HG002 chr1:192434359:G:GTGTA 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.553191,.,. dominant HG002 HG002 chr1:192453842:G:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr1:192684622:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr1:192685436:A:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr1:192685437:C:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.431818,.,. dominant HG002 HG002 chr1:192685438:G:A 1,.,. 6.57549e-06 0 1 -1 -1 -1 44,.,. 0.431818,.,. dominant HG002 HG002 chr1:193117829:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.333333,.,. dominant HG002 HG002 chr1:193149393:G:A 1,.,. -1 -1 -1 -1 -1 -1 CDC73 50_intron 40,.,. 0.45,.,. CDC73/non_coding/;CDC73/intron/ 0.9990 0.2409 0.4200 1 Hyperparathyroidism 2 with jaw tumors;Hyperparathyroidism 1;Parathyroid carcinoma 0.000 dominant HG002 HG002 chr1:193162108:TCATATATTA:T 1,.,. -1 -1 -1 -1 -1 -1 CDC73 50_intron 54,.,. 0.555556,.,. CDC73/non_coding/;CDC73/intron/ 0.9990 0.2409 0.4200 1 Hyperparathyroidism 2 with jaw tumors;Hyperparathyroidism 1;Parathyroid carcinoma 0.000 dominant HG002 HG002 chr1:193162205:AAT:A 1,.,. -1 -1 -1 -1 -1 -1 CDC73 50_intron 54,.,. 0.537037,.,. CDC73/non_coding/;CDC73/intron/ 0.9990 0.2409 0.4200 1 Hyperparathyroidism 2 with jaw tumors;Hyperparathyroidism 1;Parathyroid carcinoma 0.000 dominant HG002 HG002 chr1:193162213:T:A 1,.,. -1 -1 -1 -1 -1 -1 CDC73 50_intron 53,.,. 0.54717,.,. CDC73/non_coding/;CDC73/intron/ 0.9990 0.2409 0.4200 1 Hyperparathyroidism 2 with jaw tumors;Hyperparathyroidism 1;Parathyroid carcinoma 0.000 recessive HG002 HG002 chr1:193339880:G:GTC 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr1:193339881:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr1:193440696:TATTC:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr1:193440701:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr1:193497913:G:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. dominant HG002 HG002 chr1:193505731:T:TTAA 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr1:193948058:A:G 1,.,. 1.97081e-05 0 3 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr1:194036516:G:T 1,.,. 1.97402e-05 0 3 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr1:194207498:T:C 1,.,. 1.31442e-05 0 2 -1 -1 -1 54,.,. 0.5,.,. dominant HG002 HG002 chr1:194427467:C:CAGAG 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr1:194438114:G:A 1,.,. 1.31432e-05 0 2 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr1:194485182:A:C 1,.,. 3.37952e-05 0 1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr1:194629903:A:AGGAAGGAGGGAAAGAG 1,.,. 7.83343e-06 0 1 -1 -1 -1 54,.,. 0.425926,.,. dominant HG002 HG002 chr1:194791990:G:A 1,.,. 2.01559e-05 0 3 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr1:194933838:A:G 1,.,. 2.62843e-05 0 4 -1 -1 -1 43,.,. 0.418605,.,. recessive HG002 HG002 chr1:194995348:A:T 2,.,. 0.000539194 1 58 0.00385424 0 11 39,.,. 1,.,. dominant HG002 HG002 chr1:195292801:C:T 1,.,. 1.97275e-05 0 3 -1 -1 -1 46,.,. 0.565217,.,. recessive HG002 HG002 chr1:195568979:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr1:195568980:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr1:195568981:T:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr1:195584850:C:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.52,.,. dominant HG002 HG002 chr1:195709706:G:A 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.415094,.,. dominant HG002 HG002 chr1:195841180:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.413043,.,. dominant HG002 HG002 chr1:195842658:GTATGCATA:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr1:195915732:T:C 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.553571,.,. dominant HG002 HG002 chr1:195985646:G:GGTGT 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr1:196595607:A:G 1,.,. 1.97132e-05 0 3 -1 -1 -1 KCNT2 50_intron 51,.,. 0.45098,.,. KCNT2/intron/;KCNT2/non_coding/ 0.0001 0.5396 0.7440 3 Developmental and epileptic encephalopathy, 57 0.000 recessive HG002 HG002 chr1:196885559:G:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr1:197632856:TTCTCAATAACC:T 1,.,. -1 -1 -1 -1 -1 -1 DENND1B 50_intron 47,.,. 0.531915,.,. DENND1B/intron/;DENND1B/non_coding/ 0.0000 0.5885 0.7980 3 dominant HG002 HG002 chr1:197632868:A:C 1,.,. -1 -1 -1 -1 -1 -1 DENND1B 50_intron 47,.,. 0.531915,.,. DENND1B/intron/;DENND1B/non_coding/ 0.0000 0.5885 0.7980 3 dominant HG002 HG002 chr1:198354990:T:C 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.45283,.,. dominant HG002 HG002 chr1:198372416:GTCCCCAGCTTAT:G 1,.,. 6.59457e-06 0 1 -1 -1 -1 48,.,. 0.604167,.,. dominant HG002 HG002 chr1:198430131:C:A 1,.,. 6.58051e-06 0 1 -1 -1 -1 50,.,. 0.4,.,. dominant HG002 HG002 chr1:198922597:A:G 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.436364,.,. dominant HG002 HG002 chr1:198999907:A:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.431818,.,. dominant HG002 HG002 chr1:199609729:GGGATC:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. recessive HG002 HG002 chr1:199707872:ACTCAG:A 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr1:199918486:GGT:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.589744,.,. dominant HG002 HG002 chr1:199918489:G:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.575,.,. dominant HG002 HG002 chr1:200467095:A:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr1:200467097:T:C 1,.,. 6.56978e-06 0 1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr1:200505204:A:G 1,.,. -1 -1 -1 0.00140154 0 4 32,.,. 0.4375,.,. dominant HG002 HG002 chr1:200519033:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.606061,.,. dominant HG002 HG002 chr1:200550315:T:G 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.576923,.,. dominant HG002 HG002 chr1:200566374:C:T 1,.,. 2.64239e-05 0 4 -1 -1 -1 KIF14 50_intron 41,.,. 0.463415,.,. KIF14/intron/ 0.0000 0.5122 0.6500 2 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome;Microcephaly 20, primary, autosomal recessive 0.000 dominant HG002 HG002 chr1:200720879:T:TTTTCTTTC 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.574468,.,. dominant HG002 HG002 chr1:200947777:A:G 1,.,. 6.57004e-06 0 1 -1 -1 -1 MROH3P 53_non_coding 34,.,. 0.588235,.,. MROH3P/non_coding/ dominant HG002 HG002 chr1:201279915:T:C 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.541667,.,. dominant HG002 HG002 chr1:201360777:G:A 1,.,. 1.97161e-05 0 3 -1 -1 -1 TNNT2 50_intron 20,.,. 0.65,.,. TNNT2/intron/;TNNT2/non_coding/ 0.0003 0.5063 0.6830 2 Cardiomyopathy, familial restrictive, 3;Dilated cardiomyopathy 1D;Hypertrophic cardiomyopathy 2;Primary dilated cardiomyopathy 0.000 recessive HG002 HG002 chr1:201413430:A:C 2,.,. 0.000264449 1 40 -1 -1 -1 TNNI1 50_intron 25,.,. 1,.,. TNNI1/intron/ 0.0050 0.5546 0.8670 4 dominant HG002 HG002 chr1:201505514:T:C 1,.,. 3.71802e-05 0 1 -1 -1 -1 CSRP1 50_intron 21,.,. 0.428571,.,. CSRP1/intron/;CSRP1/non_coding/ 0.0008 0.6018 0.9140 4 dominant HG002 HG002 chr1:201859188:T:A 1,.,. -1 -1 -1 -1 -1 -1 IPO9 50_intron 41,.,. 0.560976,.,. IPO9/intron/ 1.0000 0.2151 0.3100 0 dominant HG002 HG002 chr1:201933610:T:A 1,.,. -1 -1 -1 -1 -1 -1 LMOD1 50_intron 24,.,. 0.5,.,. LMOD1/intron/ 0.9998 0.2101 0.3790 0 Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 0.000 dominant HG002 HG002 chr1:202027922:G:A 1,.,. -1 -1 -1 0.000700771 0 2 28,.,. 0.607143,.,. recessive HG002 HG002 chr1:202145834:G:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr1:202172837:A:T 1,.,. -1 -1 -1 0.000700771 0 2 PTPRVP 53_non_coding 31,.,. 0.516129,.,. PTPRVP/non_coding/ dominant HG002 HG002 chr1:202338160:T:A 1,.,. 2.62788e-05 0 4 -1 -1 -1 UBE2T 50_intron 36,.,. 0.444444,.,. UBE2T/non_coding/;UBE2T/intron/ 0.0830 0.4802 0.8380 3 Fanconi anemia complementation group T 0.000 dominant HG002 HG002 chr1:202690566:T:G 1,.,. 2.62981e-05 0 4 -1 -1 -1 SYT2 50_intron 30,.,. 0.566667,.,. SYT2/intron/ 0.6887 0.3744 0.5850 2 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive;Congenital myasthenic syndrome 7 0.000 dominant HG002 HG002 chr1:202716789:G:GTATGGGAGCAA 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr1:202716791:A:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr1:202752656:A:C 1,.,. 2.62795e-05 0 4 -1 -1 -1 KDM5B 50_intron 44,.,. 0.613636,.,. KDM5B/intron/;KDM5B/non_coding/ 0.0000 0.7369 0.8580 3 Intellectual disability, autosomal recessive 65 0.000 dominant HG002 HG002 chr1:202875529:G:A 1,.,. 2.64631e-05 0 4 -1 -1 -1 22,.,. 0.454545,.,. recessive HG002 HG002 chr1:202996493:T:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr1:202996494:A:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr1:202996496:AATGAAAAC:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr1:203405487:C:CAGATGCCT 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr1:203405493:G:GTCAGAGCTGTGTCACA 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr1:203405494:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr1:203405495:A:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr1:203437654:A:AAAG 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr1:203624461:G:GGGAAGAGGGAGGGAAGGGAAGAGGGAGGGAAT 1,.,. -1 -1 -1 0.00140154 0 4 26,.,. 0.384615,.,. dominant HG002 HG002 chr1:203899777:T:TATTTTTATTTATTTTTTTTATTTATTTAAGTATAAATATTTATTTA 1,.,. -1 -1 -1 0.00105116 0 3 43,.,. 0.511628,.,. dominant HG002 HG002 chr1:203922826:CCTATAG:C 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.4,.,. dominant HG002 HG002 chr1:203922834:A:G 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.4,.,. dominant HG002 HG002 chr1:203922835:A:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.384615,.,. dominant HG002 HG002 chr1:203937628:A:AGAAAG 1,.,. -1 -1 -1 0.000700771 0 2 33,.,. 0.333333,.,. dominant HG002 HG002 chr1:203937636:A:G 1,.,. -1 -1 -1 0.00105116 0 3 33,.,. 0.333333,.,. dominant HG002 HG002 chr1:203977474:A:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.461538,.,. dominant HG002 HG002 chr1:203977476:T:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.461538,.,. dominant HG002 HG002 chr1:203977478:A:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.48,.,. dominant HG002 HG002 chr1:204181990:TTTATTTATTTA:T 1,.,. -1 -1 -1 -1 -1 -1 REN 50_intron 26,.,. 0.346154,.,. REN/intron/ 0.0000 0.8263 1.0690 5 Renal tubular dysgenesis of genetic origin;Familial juvenile hyperuricemic nephropathy type 2 0.000 dominant HG002 HG002 chr1:204182031:T:A 1,.,. -1 -1 -1 -1 -1 -1 REN 50_intron 26,.,. 0.346154,.,. REN/intron/ 0.0000 0.8263 1.0690 5 Renal tubular dysgenesis of genetic origin;Familial juvenile hyperuricemic nephropathy type 2 0.000 dominant HG002 HG002 chr1:204442314:A:G 1,.,. 6.57177e-06 0 1 -1 -1 -1 PIK3C2B 50_intron 31,.,. 0.419355,.,. PIK3C2B/intron/ 0.0000 0.4583 0.5570 1 dominant HG002 HG002 chr1:204535416:T:C 1,.,. 1.31562e-05 0 2 -1 -1 -1 MDM4 50_intron 37,.,. 0.459459,.,. MDM4/intron/;MDM4/non_coding/ 1.0000 0.0465 0.1460 0 Bone marrow failure syndrome 6 0.000 dominant HG002 HG002 chr1:204652272:C:G 1,.,. -1 -1 -1 -1 -1 -1 LRRN2 50_intron 30,.,. 0.666667,.,. LRRN2/intron/;LRRN2/non_coding/ 0.9640 0.3303 0.5160 1 recessive HG002 HG002 chr1:204670018:G:T 2,.,. 9.06998e-05 0 13 0.0122635 1 35 LRRN2 50_intron 33,.,. 1,.,. LRRN2/intron/;LRRN2/non_coding/ 0.9640 0.3303 0.5160 1 dominant HG002 HG002 chr1:204687391:G:A 1,.,. 6.57151e-06 0 1 -1 -1 -1 29,.,. 0.275862,.,. dominant HG002 HG002 chr1:204828420:T:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr1:204858839:G:A 1,.,. 6.57315e-06 0 1 -1 -1 -1 NFASC 50_intron 26,.,. 0.538462,.,. NFASC/non_coding/;NFASC/intron/ 1.0000 0.2753 0.3620 0 Neurodevelopmental disorder with central and peripheral motor dysfunction 0.000 dominant HG002 HG002 chr1:204901843:G:A 1,.,. -1 -1 -1 -1 -1 -1 NFASC 50_intron 46,.,. 0.521739,.,. NFASC/non_coding/;NFASC/intron/ 1.0000 0.2753 0.3620 0 Neurodevelopmental disorder with central and peripheral motor dysfunction 0.000 dominant HG002 HG002 chr1:204903167:A:G 1,.,. -1 -1 -1 -1 -1 -1 NFASC 50_intron 44,.,. 0.477273,.,. NFASC/non_coding/;NFASC/intron/ 1.0000 0.2753 0.3620 0 Neurodevelopmental disorder with central and peripheral motor dysfunction 0.000 dominant HG002 HG002 chr1:204984345:G:GTGTA 1,.,. -1 -1 -1 -1 -1 -1 NFASC 50_intron 30,.,. 0.3,.,. NFASC/non_coding/;NFASC/intron/ 1.0000 0.2753 0.3620 0 Neurodevelopmental disorder with central and peripheral motor dysfunction 0.000 dominant HG002 HG002 chr1:205203564:G:A 1,.,. -1 -1 -1 0.00105116 1 3 DSTYK 50_intron 26,.,. 0.346154,.,. DSTYK/intron/ 0.9997 0.3312 0.4450 1 Congenital anomalies of kidney and urinary tract 1;Hereditary spastic paraplegia 23 0.000 dominant HG002 HG002 chr1:205205592:C:T 1,.,. 1.97777e-05 0 3 -1 -1 -1 DSTYK 50_intron 26,.,. 0.423077,.,. DSTYK/intron/ 0.9997 0.3312 0.4450 1 Congenital anomalies of kidney and urinary tract 1;Hereditary spastic paraplegia 23 0.000 dominant HG002 HG002 chr1:205278203:A:G 1,.,. 4.49832e-05 0 4 -1 -1 -1 TMCC2 53_non_coding 28,.,. 0.464286,.,. TMCC2/non_coding/ 0.9913 0.3187 0.4840 1 dominant HG002 HG002 chr1:205485039:A:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.354839,.,. dominant HG002 HG002 chr1:206439097:C:T 1,.,. 6.57263e-06 0 1 -1 -1 -1 SRGAP2 50_intron 27,.,. 0.444444,.,. SRGAP2/intron/;SRGAP2/non_coding/ 0.8748 0.0000 0.5560 1 recessive HG002 HG002 chr1:206500755:A:T 2,.,. 0.00441409 4 519 0.00455501 2 13 31,.,. 1,.,. dominant HG002 HG002 chr1:207179648:T:C 1,.,. -1 -1 -1 -1 -1 -1 C4BPAP1 53_non_coding 53,.,. 0.433962,.,. C4BPAP1/non_coding/ dominant HG002 HG002 chr1:207432387:C:T 1,.,. 1.97249e-05 0 3 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr1:207479280:G:A 1,.,. 6.58016e-06 0 1 -1 -1 -1 CR2 14_missense 48,.,. 0.4375,.,. CR2/splice_region/ENST00000367058;CR2/missense/ENST00000367058;CR2/splice_region/ENST00000367059;CR2/missense/ENST00000367059;CR2/splice_region/ENST00000367057;CR2/missense/ENST00000367057 0.0000 0.7256 0.8710 4 Systemic lupus erythematosus, susceptibility to, 9;Immunodeficiency, common variable, 2;Immunodeficiency, common variable, 7 0.000 dominant HG002 HG002 chr1:207510724:C:CCCTTCCTTCCTTCCTT 1,.,. 1.11203e-05 0 1 -1 -1 -1 CR1 50_intron 49,.,. 0.306122,.,. CR1/intron/;CR1/non_coding/ 0.0000 0.6518 0.7740 3 KNOPS BLOOD GROUP SYSTEM;Malaria, susceptibility to dominant HG002 HG002 chr1:207648200:CACACAG:C 1,.,. 3.85951e-05 0 2 -1 -1 -1 CR1L;CD46P1 50_intron 33,.,. 0.333333,.,. CR1L/non_coding/;CR1L/intron/;CD46P1/non_coding/ 0.0000 0.9322 1.1650 6 recessive HG002 HG002 chr1:207981507:T:G 2,.,. 0.00307289 4 464 0.00315347 0 9 32,.,. 1,.,. dominant HG002 HG002 chr1:208086988:TGTGAGAGAGA:T 1,.,. -1 -1 -1 -1 -1 -1 PLXNA2 50_intron 35,.,. 0.457143,.,. PLXNA2/intron/ 0.0005 0.4371 0.5250 1 dominant HG002 HG002 chr1:208238167:G:A 1,.,. 1.31439e-05 0 2 -1 -1 -1 PLXNA2 50_intron 27,.,. 0.666667,.,. PLXNA2/intron/;PLXNA2/non_coding/ 0.0005 0.4371 0.5250 1 dominant HG002 HG002 chr1:208487172:A:C 1,.,. 6.56918e-06 0 1 -1 -1 -1 42,.,. 0.47619,.,. recessive HG002 HG002 chr1:208520293:A:G 2,.,. 0.00259401 1 395 0.00140154 0 4 46,.,. 1,.,. recessive HG002 HG002 chr1:208546617:T:C 2,.,. 0.00103762 0 158 0.000700771 0 2 56,.,. 1,.,. recessive HG002 HG002 chr1:208574562:G:A 2,.,. 0.00384247 4 585 0.00210231 0 6 37,.,. 1,.,. recessive HG002 HG002 chr1:208602787:G:A 2,.,. 0.00314589 3 479 0.00210231 0 6 40,.,. 1,.,. recessive HG002 HG002 chr1:208632007:C:T 2,.,. 0.00289606 1 441 0.00210231 0 6 42,.,. 1,.,. recessive HG002 HG002 chr1:208789210:G:T 2,.,. 0.00547083 4 833 0.00350385 1 10 36,.,. 1,.,. dominant HG002 HG002 chr1:209401466:G:GT 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr1:209401468:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr1:209401469:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr1:209401472:G:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr1:209401474:AT:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr1:209677457:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr1:209714022:T:TAGTCATTC 1,.,. -1 -1 -1 -1 -1 -1 HSD11B1 50_intron 38,.,. 0.5,.,. HSD11B1/intron/ 0.0022 0.6132 0.9750 4 Cortisone reductase deficiency 2 0.000 dominant HG002 HG002 chr1:209714024:C:T 1,.,. -1 -1 -1 -1 -1 -1 HSD11B1 50_intron 37,.,. 0.513514,.,. HSD11B1/intron/ 0.0022 0.6132 0.9750 4 Cortisone reductase deficiency 2 0.000 dominant HG002 HG002 chr1:209827234:TTTCTTC:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr1:210498772:TTC:T 1,.,. 4.00914e-05 0 2 -1 -1 -1 HHAT 50_intron 38,.,. 0.447368,.,. HHAT/intron/ 0.0000 0.6072 0.7850 3 Chondrodysplasia-pseudohermaphroditism syndrome 0.000 dominant HG002 HG002 chr1:210795960:A:AACACACAC 1,.,. -1 -1 -1 -1 -1 -1 KCNH1 50_intron 41,.,. 0.341463,.,. KCNH1/intron/ 0.8168 0.3816 0.5260 1 Temple-Baraitser syndrome;Zimmermann-Laband syndrome 1 0.000 recessive HG002 HG002 chr1:210823970:G:T 2,.,. -1 -1 -1 -1 -1 -1 KCNH1 50_intron 35,.,. 1,.,. KCNH1/intron/ 0.8168 0.3816 0.5260 1 Temple-Baraitser syndrome;Zimmermann-Laband syndrome 1 0.000 dominant HG002 HG002 chr1:211625442:A:ATATG 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.384615,.,. recessive HG002 HG002 chr1:211644174:G:C 2,.,. 0.000571706 0 87 0.000700771 0 2 LINC01693 53_non_coding 25,.,. 1,.,. LINC01693/non_coding/ recessive HG002 HG002 chr1:211878733:A:AATCT 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr1:212196903:GTTTTTTTT:G 2,.,. -1 -1 -1 0.00665732 0 19 19,.,. 1,.,. recessive HG002 HG002 chr1:212198822:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr1:212198823:A:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr1:212198825:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr1:212540684:C:A 2,.,. 0.000572715 0 87 0.000700771 0 2 42,.,. 1,.,. recessive HG002 HG002 chr1:213006850:T:G 2,.,. 0.000446716 0 68 0.000700771 0 2 ANGEL2 50_intron 44,.,. 1,.,. ANGEL2/intron/;ANGEL2/non_coding/ 0.0000 0.6071 0.7880 3 dominant HG002 HG002 chr1:213352237:T:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. recessive HG002 HG002 chr1:214145770:AGGACTAAATG:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr1:214145782:G:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr1:214240846:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. recessive HG002 HG002 chr1:214437409:T:C 2,.,. 0.00492643 1 750 0.00280308 0 8 PTPN14 50_intron 49,.,. 1,.,. PTPN14/intron/ 0.2125 0.4111 0.5230 1 Lymphedema-posterior choanal atresia syndrome 0.000 recessive HG002 HG002 chr1:214453574:C:A 2,.,. -1 -1 -1 -1 -1 -1 PTPN14 50_intron 45,.,. 1,.,. PTPN14/intron/ 0.2125 0.4111 0.5230 1 Lymphedema-posterior choanal atresia syndrome 0.000 recessive HG002 HG002 chr1:214453575:A:AGGCACATGG 2,.,. -1 -1 -1 -1 -1 -1 PTPN14 50_intron 44,.,. 1,.,. PTPN14/intron/ 0.2125 0.4111 0.5230 1 Lymphedema-posterior choanal atresia syndrome 0.000 recessive HG002 HG002 chr1:214514734:A:G 2,.,. 0.000951931 0 145 0.000700771 0 2 PTPN14 50_intron 41,.,. 1,.,. PTPN14/intron/;PTPN14/non_coding/ 0.2125 0.4111 0.5230 1 Lymphedema-posterior choanal atresia syndrome 0.000 recessive HG002 HG002 chr1:214597096:A:G 2,.,. 0.000224234 0 16 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr1:214623975:G:A 2,.,. 0.00345249 2 525 0.00210231 0 6 CENPF 50_intron 48,.,. 1,.,. CENPF/intron/ 0.0000 0.6518 0.7340 2 Stromme syndrome 0.000 recessive HG002 HG002 chr1:214688055:TCA:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr1:214697855:C:T 2,.,. 0.00317902 3 484 0.00140154 0 4 36,.,. 1,.,. recessive HG002 HG002 chr1:214759368:T:G 2,.,. 0.000761585 0 116 0.000700771 0 2 24,.,. 1,.,. recessive HG002 HG002 chr1:214783538:G:A 2,.,. 0.00294241 1 448 0.00210231 0 6 49,.,. 1,.,. recessive HG002 HG002 chr1:214804452:T:G 2,.,. 0.000761545 0 116 0.000700771 0 2 37,.,. 1,.,. recessive HG002 HG002 chr1:214823194:G:C 2,.,. 0.00301539 1 446 0.00210231 0 6 35,.,. 1,.,. dominant HG002 HG002 chr1:214846912:T:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.369565,.,. recessive HG002 HG002 chr1:214880719:A:T 2,.,. 0.00354554 1 540 0.00140154 0 4 42,.,. 1,.,. dominant HG002 HG002 chr1:214927380:G:A 1,.,. 2.6293e-05 0 4 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr1:215627385:TTTCC:T 1,.,. -1 -1 -1 -1 -1 -1 USH2A 50_intron 26,.,. 0.384615,.,. USH2A/intron/ 0.0000 0.7900 0.8550 3 Retinitis pigmentosa 39;Usher syndrome type 2A 0.000 dominant HG002 HG002 chr1:215683237:ACACACACACACACACACG:A 1,.,. -1 -1 -1 -1 -1 -1 USH2A 50_intron 30,.,. 0.533333,.,. USH2A/intron/ 0.0000 0.7900 0.8550 3 Retinitis pigmentosa 39;Usher syndrome type 2A 0.000 recessive HG002 HG002 chr1:215683257:A:G 2,.,. 0.000359971 0 4 -1 -1 -1 USH2A 50_intron 30,.,. 1,.,. USH2A/intron/ 0.0000 0.7900 0.8550 3 Retinitis pigmentosa 39;Usher syndrome type 2A 0.000 dominant HG002 HG002 chr1:215914101:T:C 1,.,. -1 -1 -1 -1 -1 -1 USH2A 50_intron 47,.,. 0.553191,.,. USH2A/intron/ 0.0000 0.7900 0.8550 3 Retinitis pigmentosa 39;Usher syndrome type 2A 0.000 dominant HG002 HG002 chr1:215914102:C:G 1,.,. -1 -1 -1 -1 -1 -1 USH2A 50_intron 47,.,. 0.553191,.,. USH2A/intron/ 0.0000 0.7900 0.8550 3 Retinitis pigmentosa 39;Usher syndrome type 2A 0.000 dominant HG002 HG002 chr1:215914103:T:A 1,.,. -1 -1 -1 -1 -1 -1 USH2A 50_intron 47,.,. 0.553191,.,. USH2A/intron/ 0.0000 0.7900 0.8550 3 Retinitis pigmentosa 39;Usher syndrome type 2A 0.000 dominant HG002 HG002 chr1:215914105:G:A 1,.,. -1 -1 -1 -1 -1 -1 USH2A 50_intron 47,.,. 0.553191,.,. USH2A/intron/ 0.0000 0.7900 0.8550 3 Retinitis pigmentosa 39;Usher syndrome type 2A 0.000 dominant HG002 HG002 chr1:216231249:T:TATTATATATATAATATATATATATTATATATATAATATATATATATTATATATATAATATATATA 1,.,. -1 -1 -1 -1 -1 -1 USH2A 50_intron 41,.,. 0.414634,.,. USH2A/intron/ 0.0000 0.7900 0.8550 3 Retinitis pigmentosa 39;Usher syndrome type 2A 0.000 dominant HG002 HG002 chr1:216231251:A:AT 1,.,. -1 -1 -1 -1 -1 -1 USH2A 50_intron 52,.,. 0.442308,.,. USH2A/intron/ 0.0000 0.7900 0.8550 3 Retinitis pigmentosa 39;Usher syndrome type 2A 0.000 dominant HG002 HG002 chr1:216280006:C:CAG 1,.,. -1 -1 -1 -1 -1 -1 USH2A 50_intron 47,.,. 0.382979,.,. USH2A/intron/ 0.0000 0.7900 0.8550 3 Retinitis pigmentosa 39;Usher syndrome type 2A 0.000 dominant HG002 HG002 chr1:216447024:T:C 1,.,. 6.56892e-06 0 1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr1:216495050:GT:G 1,.,. 6.57108e-06 0 1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr1:216593781:C:A 1,.,. -1 -1 -1 -1 -1 -1 ESRRG 50_intron 48,.,. 0.416667,.,. ESRRG/intron/ 0.9943 0.2657 0.4640 1 dominant HG002 HG002 chr1:216627177:A:G 1,.,. 6.56375e-06 0 1 -1 -1 -1 ESRRG 50_intron 52,.,. 0.5,.,. ESRRG/intron/ 0.9943 0.2657 0.4640 1 dominant HG002 HG002 chr1:216771924:C:A 1,.,. 1.34599e-05 0 2 -1 -1 -1 ESRRG 50_intron 41,.,. 0.585366,.,. ESRRG/intron/ 0.9943 0.2657 0.4640 1 dominant HG002 HG002 chr1:216831510:G:C 1,.,. 6.68163e-06 0 1 -1 -1 -1 ESRRG 50_intron 41,.,. 0.317073,.,. ESRRG/intron/ 0.9943 0.2657 0.4640 1 dominant HG002 HG002 chr1:217003592:A:AATTAGTATTAAT 1,.,. 1.35002e-05 0 2 -1 -1 -1 ESRRG 50_intron 48,.,. 0.458333,.,. ESRRG/intron/;ESRRG/non_coding/ 0.9943 0.2657 0.4640 1 dominant HG002 HG002 chr1:217085110:A:G 1,.,. -1 -1 -1 -1 -1 -1 ESRRG 50_intron 50,.,. 0.38,.,. ESRRG/intron/;ESRRG/non_coding/ 0.9943 0.2657 0.4640 1 dominant HG002 HG002 chr1:217085111:TG:T 1,.,. -1 -1 -1 -1 -1 -1 ESRRG 50_intron 50,.,. 0.38,.,. ESRRG/intron/;ESRRG/non_coding/ 0.9943 0.2657 0.4640 1 dominant HG002 HG002 chr1:217805305:T:G 1,.,. 6.57272e-06 0 1 -1 -1 -1 SPATA17 50_intron 32,.,. 0.625,.,. SPATA17/intron/;SPATA17/non_coding/ 0.0000 0.9997 1.3200 7 dominant HG002 HG002 chr1:217922189:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr1:217922191:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr1:217975249:A:G 1,.,. 6.57013e-06 0 1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr1:219078742:A:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.4375,.,. dominant HG002 HG002 chr1:219165929:GAAGAGGACTGATC:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.604167,.,. dominant HG002 HG002 chr1:219165943:A:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.604167,.,. dominant HG002 HG002 chr1:219256434:CTCTT:C 1,.,. -1 -1 -1 0.000700771 0 2 41,.,. 0.414634,.,. dominant HG002 HG002 chr1:219256445:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr1:219268643:G:T 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.518519,.,. dominant HG002 HG002 chr1:219373880:AAC:A 1,.,. -1 -1 -1 0.00105116 0 3 44,.,. 0.363636,.,. dominant HG002 HG002 chr1:219386305:A:T 1,.,. 1.31401e-05 0 2 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr1:219430544:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.292683,.,. dominant HG002 HG002 chr1:219483309:A:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.354839,.,. dominant HG002 HG002 chr1:219667702:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr1:219680205:A:G 1,.,. 6.57644e-06 0 1 -1 -1 -1 52,.,. 0.557692,.,. dominant HG002 HG002 chr1:219694114:T:C 1,.,. -1 -1 -1 -1 -1 -1 SLC30A10 53_non_coding 48,.,. 0.5625,.,. SLC30A10/non_coding/ 0.0114 0.5838 0.9900 5 Hypermanganesemia with dystonia, polycythemia, and cirrhosis 0.000 recessive HG002 HG002 chr1:219743549:G:A 2,.,. -1 -1 -1 0.00315347 1 9 SLC30A10 53_non_coding 35,.,. 1,.,. SLC30A10/non_coding/ 0.0114 0.5838 0.9900 5 Hypermanganesemia with dystonia, polycythemia, and cirrhosis 0.000 dominant HG002 HG002 chr1:219748903:AAAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 SLC30A10 53_non_coding 42,.,. 0.357143,.,. SLC30A10/non_coding/ 0.0114 0.5838 0.9900 5 Hypermanganesemia with dystonia, polycythemia, and cirrhosis 0.000 dominant HG002 HG002 chr1:219787957:C:T 1,.,. -1 -1 -1 0.00105116 0 3 SLC30A10 53_non_coding 49,.,. 0.489796,.,. SLC30A10/non_coding/ 0.0114 0.5838 0.9900 5 Hypermanganesemia with dystonia, polycythemia, and cirrhosis 0.000 dominant HG002 HG002 chr1:219975842:G:GGTGGTA 1,.,. -1 -1 -1 -1 -1 -1 EPRS1 50_intron 36,.,. 0.527778,.,. EPRS1/intron/ 0.0199 0.4307 0.5490 1 Leukodystrophy, hypomyelinating, 15 0.000 dominant HG002 HG002 chr1:219975843:T:A 1,.,. -1 -1 -1 -1 -1 -1 EPRS1 50_intron 37,.,. 0.540541,.,. EPRS1/intron/ 0.0199 0.4307 0.5490 1 Leukodystrophy, hypomyelinating, 15 0.000 dominant HG002 HG002 chr1:220474040:TCACTAAA:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr1:220474048:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr1:220474049:A:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr1:220800419:A:C 1,.,. -1 -1 -1 -1 -1 -1 MTARC1;AL445423.3 50_intron 31,.,. 0.580645,.,. MTARC1/intron/;AL445423.3/intron/;MTARC1/non_coding/ 0.0000 0.8867 1.2300 6 dominant HG002 HG002 chr1:221139471:T:G 1,.,. 2.6276e-05 0 4 -1 -1 -1 39,.,. 0.615385,.,. dominant HG002 HG002 chr1:221473998:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.325,.,. dominant HG002 HG002 chr1:221489971:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.27027,.,. dominant HG002 HG002 chr1:221541589:A:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.617021,.,. dominant HG002 HG002 chr1:221541590:T:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.617021,.,. dominant HG002 HG002 chr1:221541591:G:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.617021,.,. dominant HG002 HG002 chr1:221886098:A:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr1:221894417:A:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr1:222178351:A:AAAAG 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.325,.,. dominant HG002 HG002 chr1:222400714:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. dominant HG002 HG002 chr1:222534580:A:AAAAAT 1,.,. -1 -1 -1 -1 -1 -1 HHIPL2 50_intron 29,.,. 0.482759,.,. HHIPL2/intron/;HHIPL2/non_coding/ 0.0000 0.9412 1.1630 6 dominant HG002 HG002 chr1:222534587:A:T 1,.,. -1 -1 -1 -1 -1 -1 HHIPL2 50_intron 29,.,. 0.482759,.,. HHIPL2/intron/;HHIPL2/non_coding/ 0.0000 0.9412 1.1630 6 dominant HG002 HG002 chr1:222534593:A:T 1,.,. 2.02235e-05 0 3 -1 -1 -1 HHIPL2 50_intron 29,.,. 0.517241,.,. HHIPL2/intron/;HHIPL2/non_coding/ 0.0000 0.9412 1.1630 6 dominant HG002 HG002 chr1:222860799:C:T 1,.,. 1.97696e-05 0 3 -1 -1 -1 DISP1 50_intron 43,.,. 0.465116,.,. DISP1/intron/;DISP1/non_coding/ 0.0000 0.7458 1.0280 5 HOLOPROSENCEPHALY 10 0.000 recessive HG002 HG002 chr1:223284093:A:G 2,.,. -1 -1 -1 -1 -1 -1 SUSD4 50_intron 41,.,. 1,.,. SUSD4/intron/;SUSD4/non_coding/ 0.0000 0.7983 1.0360 5 dominant HG002 HG002 chr1:223825844:G:A 1,.,. -1 -1 -1 -1 -1 -1 TP53BP2 50_intron 38,.,. 0.447368,.,. TP53BP2/intron/;TP53BP2/non_coding/ 0.0001 0.4656 0.5810 1 dominant HG002 HG002 chr1:223975228:T:C 1,.,. -1 -1 -1 -1 -1 -1 GTF2IP20 53_non_coding 41,.,. 0.487805,.,. GTF2IP20/non_coding/ dominant HG002 HG002 chr1:223975229:G:A 1,.,. -1 -1 -1 -1 -1 -1 GTF2IP20 53_non_coding 41,.,. 0.487805,.,. GTF2IP20/non_coding/ recessive HG002 HG002 chr1:223992361:A:AGGC 2,.,. -1 -1 -1 -1 -1 -1 GTF2IP20 53_non_coding 30,.,. 1,.,. GTF2IP20/non_coding/ recessive HG002 HG002 chr1:223992362:C:T 2,.,. -1 -1 -1 -1 -1 -1 GTF2IP20 53_non_coding 30,.,. 1,.,. GTF2IP20/non_coding/ dominant HG002 HG002 chr1:224065547:AATCTGT:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.571429,.,. dominant HG002 HG002 chr1:224065554:A:C 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.607143,.,. recessive HG002 HG002 chr1:224102814:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr1:224135624:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 FBXO28 50_intron 37,.,. 0.513514,.,. FBXO28/intron/ 0.9968 0.2324 0.4370 1 Developmental and epileptic encephalopathy 100 0.000 recessive HG002 HG002 chr1:224148862:C:T 2,.,. -1 -1 -1 -1 -1 -1 FBXO28 50_intron 40,.,. 1,.,. FBXO28/intron/ 0.9968 0.2324 0.4370 1 Developmental and epileptic encephalopathy 100 0.000 recessive HG002 HG002 chr1:224148863:T:TCCTCATTAC 2,.,. -1 -1 -1 -1 -1 -1 FBXO28 50_intron 39,.,. 1,.,. FBXO28/intron/ 0.9968 0.2324 0.4370 1 Developmental and epileptic encephalopathy 100 0.000 recessive HG002 HG002 chr1:224148864:A:C 2,.,. 5.26018e-05 0 8 -1 -1 -1 FBXO28 50_intron 40,.,. 1,.,. FBXO28/intron/ 0.9968 0.2324 0.4370 1 Developmental and epileptic encephalopathy 100 0.000 dominant HG002 HG002 chr1:224277003:T:C 1,.,. -1 -1 -1 -1 -1 -1 NVL 50_intron 36,.,. 0.527778,.,. NVL/intron/ 0.0000 0.7032 0.8920 4 dominant HG002 HG002 chr1:224957506:C:A 1,.,. -1 -1 -1 -1 -1 -1 DNAH14 50_intron 51,.,. 0.470588,.,. DNAH14/intron/;DNAH14/non_coding/ 0.0000 0.8861 0.9690 4 dominant HG002 HG002 chr1:224957507:T:TGTA 1,.,. -1 -1 -1 -1 -1 -1 DNAH14 50_intron 51,.,. 0.470588,.,. DNAH14/intron/;DNAH14/non_coding/ 0.0000 0.8861 0.9690 4 dominant HG002 HG002 chr1:224957508:A:T 1,.,. -1 -1 -1 -1 -1 -1 DNAH14 50_intron 51,.,. 0.470588,.,. DNAH14/intron/;DNAH14/non_coding/ 0.0000 0.8861 0.9690 4 dominant HG002 HG002 chr1:225535378:A:C 1,.,. -1 -1 -1 -1 -1 -1 ENAH 50_intron 52,.,. 0.403846,.,. ENAH/intron/;ENAH/non_coding/ 0.9998 0.2788 0.4230 1 dominant HG002 HG002 chr1:226170164:G:T 1,.,. -1 -1 -1 -1 -1 -1 ACBD3 50_intron 29,.,. 0.482759,.,. ACBD3/intron/ 0.0059 0.4646 0.6340 2 dominant HG002 HG002 chr1:226267310:T:TTATGTATGTATGTATG 1,.,. -1 -1 -1 -1 -1 -1 LIN9 50_intron 32,.,. 0.5,.,. LIN9/intron/ 1.0000 0.0623 0.1960 0 dominant HG002 HG002 chr1:226297373:T:C 1,.,. -1 -1 -1 -1 -1 -1 LIN9 50_intron 35,.,. 0.342857,.,. LIN9/intron/ 1.0000 0.0623 0.1960 0 dominant HG002 HG002 chr1:226455730:T:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.37931,.,. dominant HG002 HG002 chr1:227006918:GTGCACTCACTCT:G 1,.,. -1 -1 -1 -1 -1 -1 CDC42BPA 50_intron 40,.,. 0.65,.,. CDC42BPA/intron/ 0.9982 0.3482 0.4640 1 dominant HG002 HG002 chr1:227006931:G:A 1,.,. -1 -1 -1 -1 -1 -1 CDC42BPA 50_intron 42,.,. 0.642857,.,. CDC42BPA/intron/ 0.9982 0.3482 0.4640 1 dominant HG002 HG002 chr1:227403464:G:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.651163,.,. dominant HG002 HG002 chr1:228127396:C:CCTTTCTTTCTTT 1,.,. -1 -1 -1 -1 -1 -1 16,.,. 0.625,.,. recessive HG002 HG002 chr1:228198377:GGA:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr1:228198381:T:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr1:228287879:C:T 1,.,. 1.31392e-05 0 2 -1 -1 -1 OBSCN 14_missense 28,.,. 0.678571,.,. OBSCN/missense/ENST00000284548;OBSCN/missense/ENST00000422127;OBSCN/missense/ENST00000570156;OBSCN/missense/ENST00000662438;OBSCN/missense/ENST00000366707;OBSCN/missense/ENST00000636875;OBSCN/missense/ENST00000636476;OBSCN/missense/ENST00000668943 0.0000 0.9488 1.0070 5 Rhabdomyolysis, susceptibility to, 1 dominant HG002 HG002 chr1:228353870:C:T 1,.,. -1 -1 -1 -1 -1 -1 OBSCN 50_intron 14,.,. 0.357143,.,. OBSCN/intron/ 0.0000 0.9488 1.0070 5 Rhabdomyolysis, susceptibility to, 1 dominant HG002 HG002 chr1:228742035:A:G 1,.,. 2.62729e-05 0 4 -1 -1 -1 RHOU 50_intron 35,.,. 0.457143,.,. RHOU/intron/ 0.2077 0.4316 0.7530 3 dominant HG002 HG002 chr1:228828994:AAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr1:228829000:A:G 1,.,. 5.22794e-05 0 3 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr1:228971973:C:A 1,.,. 1.97759e-05 0 3 -1 -1 -1 27,.,. 0.296296,.,. recessive HG002 HG002 chr1:229013237:T:TGC 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr1:229013238:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr1:229382580:T:TTATATATA 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.4,.,. dominant HG002 HG002 chr1:229870920:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr1:230142583:A:G 1,.,. 1.31401e-05 0 2 -1 -1 -1 GALNT2 50_intron 31,.,. 0.612903,.,. GALNT2/non_coding/;GALNT2/intron/ 0.8933 0.3759 0.5150 1 Congenital disorder of glycosylation, type iit 0.000 recessive HG002 HG002 chr1:230335590:CAGAT:C 2,.,. -1 -1 -1 -1 -1 -1 PGBD5 50_intron 27,.,. 1,.,. PGBD5/intron/;PGBD5/non_coding/ 0.9984 0.2740 0.4440 1 dominant HG002 HG002 chr1:230611141:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr1:230817734:G:T 1,.,. 2.64519e-05 0 4 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr1:230949900:T:C 1,.,. -1 -1 -1 -1 -1 -1 TTC13 50_intron 37,.,. 0.513514,.,. TTC13/intron/ 0.0000 0.5165 0.6790 2 dominant HG002 HG002 chr1:231041251:CCTT:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr1:231041258:A:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr1:231129395:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.352941,.,. dominant HG002 HG002 chr1:232034089:C:T 1,.,. 1.31539e-05 0 2 -1 -1 -1 DISC1 50_intron 45,.,. 0.444444,.,. DISC1/intron/ 0.0000 0.7204 0.8930 4 Schizophrenia 9 0.000 dominant HG002 HG002 chr1:232133669:C:CTG 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.527273,.,. dominant HG002 HG002 chr1:232150535:TTTTTTGAGA:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.357143,.,. dominant HG002 HG002 chr1:232357393:GGA:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.580645,.,. dominant HG002 HG002 chr1:232357397:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr1:232374404:T:C 1,.,. 1.97114e-05 0 3 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr1:232564147:TTCGTGTGTGTGTG:T 1,.,. -1 -1 -1 -1 -1 -1 SIPA1L2 50_intron 35,.,. 0.428571,.,. SIPA1L2/intron/ 1.0000 0.3289 0.4120 1 dominant HG002 HG002 chr1:232564161:T:C 1,.,. -1 -1 -1 -1 -1 -1 SIPA1L2 50_intron 35,.,. 0.457143,.,. SIPA1L2/intron/ 1.0000 0.3289 0.4120 1 dominant HG002 HG002 chr1:232919238:G:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.416667,.,. dominant HG002 HG002 chr1:233257263:A:ATTTTCACT 1,.,. -1 -1 -1 -1 -1 -1 PCNX2 50_intron 45,.,. 0.333333,.,. PCNX2/intron/ 0.0000 0.7600 0.8660 4 dominant HG002 HG002 chr1:233257265:A:G 1,.,. -1 -1 -1 -1 -1 -1 PCNX2 50_intron 45,.,. 0.333333,.,. PCNX2/intron/ 0.0000 0.7600 0.8660 4 dominant HG002 HG002 chr1:233381342:G:A 1,.,. -1 -1 -1 -1 -1 -1 MAP3K21 50_intron 52,.,. 0.576923,.,. MAP3K21/intron/ 0.0000 0.8508 1.0610 5 dominant HG002 HG002 chr1:233525281:T:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.333333,.,. dominant HG002 HG002 chr1:233592490:TGTA:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr1:233592494:A:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr1:233634314:A:G 1,.,. 9.33068e-05 0 3 -1 -1 -1 KCNK1 50_intron 30,.,. 0.533333,.,. KCNK1/intron/;KCNK1/non_coding/ 0.2310 0.4242 0.7200 2 recessive HG002 HG002 chr1:233636756:C:T 2,.,. 1.3173e-05 0 2 -1 -1 -1 KCNK1 50_intron 30,.,. 1,.,. KCNK1/intron/;KCNK1/non_coding/ 0.2310 0.4242 0.7200 2 dominant HG002 HG002 chr1:233643284:G:A 1,.,. 2.62981e-05 0 4 -1 -1 -1 KCNK1 50_intron 34,.,. 0.382353,.,. KCNK1/intron/;KCNK1/non_coding/ 0.2310 0.4242 0.7200 2 dominant HG002 HG002 chr1:233732375:TGGCCATGGCCCAA:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr1:233732392:A:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr1:233744005:G:C 1,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.40678,.,. dominant HG002 HG002 chr1:233748525:C:A 1,.,. 1.97161e-05 0 3 -1 -1 -1 69,.,. 0.57971,.,. dominant HG002 HG002 chr1:233759278:A:AAAT 1,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.530303,.,. dominant HG002 HG002 chr1:233759283:A:T 1,.,. -1 -1 -1 -1 -1 -1 69,.,. 0.550725,.,. dominant HG002 HG002 chr1:233793519:TAGTCTCAGCCC:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.678571,.,. dominant HG002 HG002 chr1:233793533:G:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.678571,.,. recessive HG002 HG002 chr1:233912482:CAAACAAACAAAG:C 2,.,. 0.000447161 0 54 -1 -1 -1 SLC35F3 50_intron 31,.,. 1,.,. SLC35F3/intron/ 0.0026 0.4955 0.6970 2 recessive HG002 HG002 chr1:233912510:A:C 2,.,. 0.00289829 1 351 0.0024527 0 7 SLC35F3 50_intron 34,.,. 1,.,. SLC35F3/intron/ 0.0026 0.4955 0.6970 2 recessive HG002 HG002 chr1:233968497:C:T 2,.,. -1 -1 -1 -1 -1 -1 SLC35F3 50_intron 34,.,. 1,.,. SLC35F3/intron/ 0.0026 0.4955 0.6970 2 dominant HG002 HG002 chr1:234001736:G:A 1,.,. 1.97187e-05 0 3 -1 -1 -1 SLC35F3 50_intron 40,.,. 0.475,.,. SLC35F3/intron/ 0.0026 0.4955 0.6970 2 dominant HG002 HG002 chr1:234088474:C:T 1,.,. -1 -1 -1 -1 -1 -1 SLC35F3 50_intron 44,.,. 0.409091,.,. SLC35F3/intron/ 0.0026 0.4955 0.6970 2 dominant HG002 HG002 chr1:234107640:CCT:C 1,.,. -1 -1 -1 -1 -1 -1 SLC35F3 50_intron 32,.,. 0.4375,.,. SLC35F3/intron/ 0.0026 0.4955 0.6970 2 dominant HG002 HG002 chr1:234107643:G:T 1,.,. -1 -1 -1 -1 -1 -1 SLC35F3 50_intron 32,.,. 0.4375,.,. SLC35F3/intron/ 0.0026 0.4955 0.6970 2 dominant HG002 HG002 chr1:234267965:C:T 1,.,. 2.69564e-05 0 4 -1 -1 -1 SLC35F3 50_intron 40,.,. 0.5,.,. SLC35F3/intron/ 0.0026 0.4955 0.6970 2 dominant HG002 HG002 chr1:234267968:T:A 1,.,. 2.81302e-05 0 4 -1 -1 -1 SLC35F3 50_intron 40,.,. 0.5,.,. SLC35F3/intron/ 0.0026 0.4955 0.6970 2 dominant HG002 HG002 chr1:234273649:GGCTTCA:G 1,.,. -1 -1 -1 -1 -1 -1 SLC35F3 50_intron 39,.,. 0.435897,.,. SLC35F3/intron/ 0.0026 0.4955 0.6970 2 dominant HG002 HG002 chr1:234273657:A:G 1,.,. -1 -1 -1 -1 -1 -1 SLC35F3 50_intron 39,.,. 0.435897,.,. SLC35F3/intron/ 0.0026 0.4955 0.6970 2 recessive HG002 HG002 chr1:234498214:A:G 2,.,. 0.00133852 3 174 0.00665732 1 19 37,.,. 1,.,. recessive HG002 HG002 chr1:234773191:GCGGGGGA:G 2,.,. 6.73373e-05 0 10 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr1:234773199:A:G 2,.,. 0.00193798 1 3 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr1:234834555:C:CCAAACCCCCAGGAG 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr1:234834556:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr1:235517613:A:T 1,.,. 2.62912e-05 0 4 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr1:235531092:G:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.44,.,. dominant HG002 HG002 chr1:235531123:AGAC:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.423077,.,. dominant HG002 HG002 chr1:235612093:A:G 1,.,. -1 -1 -1 -1 -1 -1 GNG4 50_intron 29,.,. 0.517241,.,. GNG4/intron/ 0.0136 1.2111 1.8960 9 dominant HG002 HG002 chr1:235657761:A:AT 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr1:235713406:C:A 1,.,. -1 -1 -1 -1 -1 -1 LYST 50_intron 39,.,. 0.512821,.,. LYST/intron/;LYST/non_coding/ 0.0000 0.4380 0.5050 1 Chédiak-Higashi syndrome 0.000 dominant HG002 HG002 chr1:235744901:AAAG:A 1,.,. -1 -1 -1 -1 -1 -1 LYST 50_intron 51,.,. 0.392157,.,. LYST/intron/ 0.0000 0.4380 0.5050 1 Chédiak-Higashi syndrome 0.000 dominant HG002 HG002 chr1:235744906:A:G 1,.,. 1.65733e-05 0 1 -1 -1 -1 LYST 50_intron 50,.,. 0.4,.,. LYST/intron/ 0.0000 0.4380 0.5050 1 Chédiak-Higashi syndrome 0.000 dominant HG002 HG002 chr1:236044846:C:CGAA 1,.,. -1 -1 -1 -1 -1 -1 NID1 50_intron 27,.,. 0.333333,.,. NID1/intron/ 0.0000 0.5557 0.6760 2 dominant HG002 HG002 chr1:236044847:A:G 1,.,. 1.3206e-05 0 2 -1 -1 -1 NID1 50_intron 27,.,. 0.333333,.,. NID1/intron/ 0.0000 0.5557 0.6760 2 dominant HG002 HG002 chr1:236111937:CAACATTGAA:C 1,.,. -1 -1 -1 -1 -1 -1 AL122018.1 53_non_coding 24,.,. 0.5,.,. AL122018.1/non_coding/ dominant HG002 HG002 chr1:236111947:A:G 1,.,. -1 -1 -1 -1 -1 -1 AL122018.1 53_non_coding 24,.,. 0.5,.,. AL122018.1/non_coding/ dominant HG002 HG002 chr1:236125487:A:AGCTACCT 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr1:236125488:T:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr1:236211515:C:CATG 1,.,. -1 -1 -1 -1 -1 -1 GPR137B 53_non_coding 50,.,. 0.56,.,. GPR137B/non_coding/ 0.0000 0.9656 1.3790 7 dominant HG002 HG002 chr1:236211520:G:A 1,.,. -1 -1 -1 -1 -1 -1 GPR137B 53_non_coding 50,.,. 0.56,.,. GPR137B/non_coding/ 0.0000 0.9656 1.3790 7 dominant HG002 HG002 chr1:236319832:C:G 1,.,. 6.57091e-06 0 1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr1:236452499:C:CCT 1,.,. -1 -1 -1 -1 -1 -1 EDARADD 50_intron 22,.,. 0.545455,.,. EDARADD/intron/ 0.0010 0.6337 0.9910 5 Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 0.000 dominant HG002 HG002 chr1:236756060:C:A 1,.,. -1 -1 -1 0.00105116 0 3 ACTN2 50_intron 28,.,. 0.428571,.,. ACTN2/intron/;ACTN2/non_coding/ 1.0000 0.3271 0.4320 1 Myopathy, congenital, with structured cores and z-line abnormalities;Myopathy, distal, 6, adult-onset, autosomal dominant;Dilated cardiomyopathy 1AA;Primary dilated cardiomyopathy;Primary familial hypertrophic cardiomyopathy 0.000 dominant HG002 HG002 chr1:236756746:C:A 1,.,. -1 -1 -1 0.000700771 0 2 ACTN2 50_intron 25,.,. 0.4,.,. ACTN2/intron/;ACTN2/non_coding/ 1.0000 0.3271 0.4320 1 Myopathy, congenital, with structured cores and z-line abnormalities;Myopathy, distal, 6, adult-onset, autosomal dominant;Dilated cardiomyopathy 1AA;Primary dilated cardiomyopathy;Primary familial hypertrophic cardiomyopathy 0.000 dominant HG002 HG002 chr1:237086300:G:C 1,.,. -1 -1 -1 -1 -1 -1 RYR2 50_intron 35,.,. 0.457143,.,. RYR2/intron/ 1.0000 0.3684 0.4240 1 Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0.000 dominant HG002 HG002 chr1:237204507:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 RYR2 50_intron 45,.,. 0.6,.,. RYR2/intron/ 1.0000 0.3684 0.4240 1 Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0.000 dominant HG002 HG002 chr1:237227975:TTTA:T 1,.,. -1 -1 -1 -1 -1 -1 RYR2 50_intron 46,.,. 0.478261,.,. RYR2/intron/ 1.0000 0.3684 0.4240 1 Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0.000 dominant HG002 HG002 chr1:237538780:AAT:A 1,.,. 0.000202511 0 3 -1 -1 -1 RYR2 50_intron 47,.,. 0.425532,.,. RYR2/intron/ 1.0000 0.3684 0.4240 1 Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0.000 dominant HG002 HG002 chr1:237542068:T:A 1,.,. -1 -1 -1 -1 -1 -1 RYR2 50_intron 50,.,. 0.5,.,. RYR2/intron/ 1.0000 0.3684 0.4240 1 Catecholaminergic polymorphic ventricular tachycardia 1;Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0.000 recessive HG002 HG002 chr1:238240408:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr1:238240409:C:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr1:238338956:G:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.612245,.,. recessive HG002 HG002 chr1:238466293:TAAAAC:T 2,.,. 0.000296992 0 11 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr1:238573847:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.621622,.,. dominant HG002 HG002 chr1:238889779:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr1:238924404:CATACAT:C 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.54,.,. recessive HG002 HG002 chr1:239768499:T:A 2,.,. 6.58103e-06 0 1 -1 -1 -1 CHRM3;CHRM3-AS2 50_intron 40,.,. 1,.,. CHRM3/non_coding/;CHRM3/intron/;CHRM3-AS2/non_coding/ 0.9994 0.2536 0.4200 1 Prune belly syndrome 0.000 recessive HG002 HG002 chr1:239768503:G:C 2,.,. -1 -1 -1 -1 -1 -1 CHRM3;CHRM3-AS2 50_intron 41,.,. 1,.,. CHRM3/non_coding/;CHRM3/intron/;CHRM3-AS2/non_coding/ 0.9994 0.2536 0.4200 1 Prune belly syndrome 0.000 dominant HG002 HG002 chr1:239883857:T:C 1,.,. -1 -1 -1 -1 -1 -1 CHRM3 50_intron 48,.,. 0.5,.,. CHRM3/non_coding/;CHRM3/intron/ 0.9994 0.2536 0.4200 1 Prune belly syndrome 0.000 dominant HG002 HG002 chr1:240063812:G:A 1,.,. -1 -1 -1 -1 -1 -1 FMN2 50_intron 38,.,. 0.605263,.,. FMN2/intron/ 0.5124 0.4018 0.5100 1 Intellectual disability, autosomal recessive 47 0.000 dominant HG002 HG002 chr1:240161525:T:G 1,.,. -1 -1 -1 -1 -1 -1 FMN2 50_intron 40,.,. 0.525,.,. FMN2/intron/ 0.5124 0.4018 0.5100 1 Intellectual disability, autosomal recessive 47 0.000 dominant HG002 HG002 chr1:240228355:G:A 1,.,. -1 -1 -1 0.00140154 0 4 FMN2 50_intron 18,.,. 0.277778,.,. FMN2/intron/ 0.5124 0.4018 0.5100 1 Intellectual disability, autosomal recessive 47 0.000 dominant HG002 HG002 chr1:240587986:A:G 1,.,. -1 -1 -1 -1 -1 -1 GREM2 50_intron 37,.,. 0.459459,.,. GREM2/intron/ 0.0010 0.7395 1.2240 6 Tooth agenesis, selective, 9 0.000 recessive HG002 HG002 chr1:240652224:C:CTGTCTTTAAATGGTTTTCCTGCCTACATCATTTAAAATTACCTCAATTCATGAAAAT 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr1:240652227:A:AGGG 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr1:240795221:A:C 2,.,. 4.63773e-05 0 7 0.000700771 0 2 RGS7 50_intron 42,.,. 1,.,. RGS7/intron/ 0.9950 0.3068 0.4720 1 recessive HG002 HG002 chr1:240808909:A:G 2,.,. 6.60729e-06 0 1 -1 -1 -1 RGS7 50_intron 47,.,. 1,.,. RGS7/intron/ 0.9950 0.3068 0.4720 1 dominant HG002 HG002 chr1:241905076:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.625,.,. recessive HG002 HG002 chr1:242045566:G:T 2,.,. -1 -1 -1 0.000700771 0 2 19,.,. 1,.,. recessive HG002 HG002 chr1:242313806:T:TTCATTGG 2,.,. -1 -1 -1 -1 -1 -1 PLD5 50_intron 33,.,. 1,.,. PLD5/intron/ 0.0000 0.6065 0.7980 3 dominant HG002 HG002 chr1:242516269:T:C 1,.,. -1 -1 -1 -1 -1 -1 PLD5 50_intron 45,.,. 0.422222,.,. PLD5/intron/ 0.0000 0.6065 0.7980 3 dominant HG002 HG002 chr1:242516272:ATATATATACATATTC:A 1,.,. -1 -1 -1 -1 -1 -1 PLD5 50_intron 45,.,. 0.422222,.,. PLD5/intron/ 0.0000 0.6065 0.7980 3 recessive HG002 HG002 chr1:242653505:AAGTGT:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr1:242653511:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr1:242695149:C:T 2,.,. -1 -1 -1 0.0178697 2 51 38,.,. 1,.,. recessive HG002 HG002 chr1:242903951:A:T 2,.,. 0.00158867 0 233 0.00455501 0 13 36,.,. 1,.,. dominant HG002 HG002 chr1:242943985:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr1:243221064:G:T 1,.,. 1.97957e-05 0 3 -1 -1 -1 CEP170 50_intron 52,.,. 0.461538,.,. CEP170/intron/;CEP170/non_coding/ 1.0000 0.1811 0.2610 0 recessive HG002 HG002 chr1:243619446:C:G 2,.,. -1 -1 -1 -1 -1 -1 AKT3 50_intron 22,.,. 1,.,. AKT3/intron/ 0.9901 0.2840 0.4820 1 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0.000 dominant HG002 HG002 chr1:244317885:TAAC:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr1:244317889:A:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr1:244387511:G:GGAT 1,.,. -1 -1 -1 -1 -1 -1 C1orf100 50_intron 33,.,. 0.575758,.,. C1orf100/intron/;C1orf100/non_coding/ 0.0001 0.8923 1.4170 7 dominant HG002 HG002 chr1:244387512:T:A 1,.,. -1 -1 -1 -1 -1 -1 C1orf100 50_intron 33,.,. 0.575758,.,. C1orf100/intron/;C1orf100/non_coding/ 0.0001 0.8923 1.4170 7 dominant HG002 HG002 chr1:244480634:T:C 1,.,. 5.38136e-05 0 3 -1 -1 -1 CATSPERE 50_intron 43,.,. 0.465116,.,. CATSPERE/non_coding/;CATSPERE/intron/ 0.0000 0.6867 0.8940 4 dominant HG002 HG002 chr1:244480638:T:A 1,.,. -1 -1 -1 -1 -1 -1 CATSPERE 50_intron 44,.,. 0.477273,.,. CATSPERE/non_coding/;CATSPERE/intron/ 0.0000 0.6867 0.8940 4 dominant HG002 HG002 chr1:244592877:A:C 1,.,. -1 -1 -1 -1 -1 -1 CATSPERE 50_intron 30,.,. 0.4,.,. CATSPERE/non_coding/;CATSPERE/intron/ 0.0000 0.6867 0.8940 4 dominant HG002 HG002 chr1:244703025:G:A 1,.,. 2.9623e-05 0 4 -1 -1 -1 DESI2 50_intron 36,.,. 0.444444,.,. DESI2/intron/ 0.5881 0.3138 0.8110 3 dominant HG002 HG002 chr1:244744193:C:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.633333,.,. dominant HG002 HG002 chr1:244868098:A:AAAAG 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.259259,.,. dominant HG002 HG002 chr1:244915679:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr1:244944226:GAAAGAAAGAA:G 1,.,. 2.77239e-05 0 4 -1 -1 -1 30,.,. 0.233333,.,. dominant HG002 HG002 chr1:245035667:G:GACCAGTC 1,.,. -1 -1 -1 -1 -1 -1 EFCAB2 50_intron 48,.,. 0.458333,.,. EFCAB2/non_coding/;EFCAB2/intron/ 0.0000 1.0430 1.4660 8 dominant HG002 HG002 chr1:245035673:C:T 1,.,. -1 -1 -1 -1 -1 -1 EFCAB2 50_intron 48,.,. 0.458333,.,. EFCAB2/non_coding/;EFCAB2/intron/ 0.0000 1.0430 1.4660 8 dominant HG002 HG002 chr1:245100813:ATAAATAC:A 1,.,. -1 -1 -1 -1 -1 -1 EFCAB2 50_intron 45,.,. 0.622222,.,. EFCAB2/intron/;EFCAB2/non_coding/ 0.0000 1.0430 1.4660 8 dominant HG002 HG002 chr1:245100821:T:A 1,.,. 7.42207e-05 0 3 -1 -1 -1 EFCAB2 50_intron 43,.,. 0.651163,.,. EFCAB2/intron/;EFCAB2/non_coding/ 0.0000 1.0430 1.4660 8 dominant HG002 HG002 chr1:245290198:A:G 1,.,. -1 -1 -1 -1 -1 -1 KIF26B 50_intron 25,.,. 0.56,.,. KIF26B/intron/ 0.0000 0.4631 0.5710 1 dominant HG002 HG002 chr1:245326815:T:C 1,.,. 1.31397e-05 0 2 -1 -1 -1 KIF26B 50_intron 38,.,. 0.578947,.,. KIF26B/intron/ 0.0000 0.4631 0.5710 1 dominant HG002 HG002 chr1:245662488:T:A 1,.,. -1 -1 -1 -1 -1 -1 KIF26B 50_intron 43,.,. 0.511628,.,. KIF26B/intron/;KIF26B/non_coding/ 0.0000 0.4631 0.5710 1 dominant HG002 HG002 chr1:245681228:G:C 1,.,. -1 -1 -1 -1 -1 -1 KIF26B 50_intron 42,.,. 0.428571,.,. KIF26B/intron/;KIF26B/non_coding/ 0.0000 0.4631 0.5710 1 dominant HG002 HG002 chr1:245866818:C:T 1,.,. -1 -1 -1 -1 -1 -1 SMYD3 50_intron 29,.,. 0.551724,.,. SMYD3/intron/;SMYD3/non_coding/ 0.0000 0.6620 0.8980 4 recessive HG002 HG002 chr1:246428821:C:T 2,.,. -1 -1 -1 -1 -1 -1 SMYD3 50_intron 39,.,. 1,.,. SMYD3/intron/;SMYD3/non_coding/ 0.0000 0.6620 0.8980 4 recessive HG002 HG002 chr1:246428823:C:CTGATTCAAAGCCATGCAATCTACACCACAGCCCATGCTCTTAACCG 2,.,. 8.56384e-06 0 1 -1 -1 -1 SMYD3 50_intron 38,.,. 1,.,. SMYD3/intron/;SMYD3/non_coding/ 0.0000 0.6620 0.8980 4 recessive HG002 HG002 chr1:246428825:G:C 2,.,. 0.000102229 0 5 -1 -1 -1 SMYD3 50_intron 39,.,. 1,.,. SMYD3/intron/;SMYD3/non_coding/ 0.0000 0.6620 0.8980 4 dominant HG002 HG002 chr1:246714721:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr1:246728037:C:CGTAGAG 1,.,. 1.58298e-05 0 1 -1 -1 -1 SCCPDH 50_intron 30,.,. 0.5,.,. SCCPDH/intron/ 0.0003 0.7944 1.2870 7 dominant HG002 HG002 chr1:246728042:T:A 1,.,. 6.59231e-06 0 1 -1 -1 -1 SCCPDH 50_intron 30,.,. 0.5,.,. SCCPDH/intron/ 0.0003 0.7944 1.2870 7 dominant HG002 HG002 chr1:247085762:G:C 1,.,. -1 -1 -1 -1 -1 -1 AL627095.1 53_non_coding 33,.,. 0.363636,.,. AL627095.1/non_coding/ dominant HG002 HG002 chr1:247085763:A:C 1,.,. -1 -1 -1 -1 -1 -1 AL627095.1 53_non_coding 33,.,. 0.363636,.,. AL627095.1/non_coding/ dominant HG002 HG002 chr1:247085764:G:C 1,.,. -1 -1 -1 -1 -1 -1 AL627095.1 53_non_coding 33,.,. 0.363636,.,. AL627095.1/non_coding/ dominant HG002 HG002 chr1:247085767:CCACACAGGGGCCACACAG:C 1,.,. -1 -1 -1 -1 -1 -1 AL627095.1 53_non_coding 33,.,. 0.333333,.,. AL627095.1/non_coding/ dominant HG002 HG002 chr1:247125678:G:T 1,.,. 2.67982e-05 0 2 -1 -1 -1 ZNF124 50_intron 31,.,. 0.548387,.,. ZNF124/intron/;ZNF124/non_coding/ 0.0000 0.8236 1.1500 6 dominant HG002 HG002 chr1:247125679:G:T 1,.,. -1 -1 -1 -1 -1 -1 ZNF124 50_intron 32,.,. 0.53125,.,. ZNF124/intron/;ZNF124/non_coding/ 0.0000 0.8236 1.1500 6 dominant HG002 HG002 chr1:247125680:C:G 1,.,. -1 -1 -1 -1 -1 -1 ZNF124 50_intron 32,.,. 0.53125,.,. ZNF124/intron/;ZNF124/non_coding/ 0.0000 0.8236 1.1500 6 dominant HG002 HG002 chr1:247302468:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 ZNF496 50_intron 30,.,. 0.466667,.,. ZNF496/intron/;ZNF496/non_coding/ 1.0000 0.1812 0.3000 0 dominant HG002 HG002 chr1:247380754:A:AATTTATTT 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.555556,.,. dominant HG002 HG002 chr1:247456608:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 OR2B11 50_intron 45,.,. 0.488889,.,. OR2B11/intron/;OR2B11/non_coding/ dominant HG002 HG002 chr1:247456611:T:C 1,.,. -1 -1 -1 -1 -1 -1 OR2B11 50_intron 47,.,. 0.510638,.,. OR2B11/intron/;OR2B11/non_coding/ dominant HG002 HG002 chr1:247458318:C:CTT 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.387755,.,. dominant HG002 HG002 chr1:247884011:G:A 1,.,. 0.000189018 0 4 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr1:247884017:C:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. recessive HG002 HG002 chr1:247893436:C:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chr1:248169674:T:G 1,.,. -1 -1 -1 0.00105116 0 3 42,.,. 0.47619,.,. dominant HG002 HG002 chr1:248230713:TG:T 1,.,. 1.31643e-05 0 2 0.000700771 0 2 43,.,. 0.418605,.,. dominant HG002 HG002 chr1:248253504:C:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr1:248422800:C:T 1,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.328767,.,. dominant HG002 HG002 chr1:248426102:C:T 1,.,. 1.31461e-05 0 2 -1 -1 -1 67,.,. 0.343284,.,. dominant HG002 HG002 chr1:248465696:T:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.4375,.,. dominant HG002 HG002 chr1:248575098:G:A 1,.,. 2.9553e-05 0 4 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr1:248581468:C:T 1,.,. 1.39827e-05 0 2 -1 -1 -1 50,.,. 0.42,.,. recessive HG002 HG002 chr1:248637522:G:T 2,.,. -1 -1 -1 -1 -1 -1 OR2T35 36_3_prime_utr 51,.,. 1,.,. OR2T35/3_prime_utr/ENST00000641268 recessive HG002 HG002 chr1:248637529:T:C 2,.,. -1 -1 -1 -1 -1 -1 OR2T35 36_3_prime_utr 52,.,. 1,.,. OR2T35/3_prime_utr/ENST00000641268 dominant HG002 HG002 chr1:248676860:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr1:248677043:C:A 1,.,. 7.63184e-05 0 2 0.000700771 0 2 38,.,. 0.447368,.,. dominant HG002 HG002 chr1:248753430:A:C 1,.,. -1 -1 -1 -1 -1 -1 LYPD8 50_intron 27,.,. 0.444444,.,. LYPD8/intron/ 0.0694 1.2045 1.9050 9 dominant HG002 HG002 chr1:248785180:G:A 1,.,. -1 -1 -1 0.000700771 0 2 29,.,. 0.482759,.,. dominant HG002 HG002 chr1:248815749:T:C 1,.,. -1 -1 -1 -1 -1 -1 SH3BP5L 50_intron 27,.,. 0.444444,.,. SH3BP5L/intron/;SH3BP5L/non_coding/ 0.1589 0.4255 0.6310 2 dominant HG002 HG002 chr1:248830194:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.621622,.,. dominant HG002 HG002 chr1:248913776:G:T 1,.,. 2.62943e-05 0 4 -1 -1 -1 PGBD2 50_intron 40,.,. 0.425,.,. PGBD2/intron/;PGBD2/non_coding/ 0.0117 0.7847 1.5220 8 dominant HG002 HG002 chr2:148539:GTTGA:G 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.375,.,. dominant HG002 HG002 chr2:199812:G:A 1,.,. 1.97112e-05 0 3 -1 -1 -1 24,.,. 0.375,.,. recessive HG002 HG002 chr2:313669:GGTGT:G 2,.,. 0.00125828 2 19 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr2:406876:A:C 1,.,. 1.31579e-05 0 2 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr2:413742:T:C 1,.,. 1.31527e-05 0 2 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr2:427309:C:CTCCGCTGGCACGCAGGGGGT 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.375,.,. dominant HG002 HG002 chr2:579117:G:A 1,.,. 6.74727e-06 0 1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr2:617556:C:CATTATATAATTT 1,.,. 3.34437e-05 0 4 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr2:713642:C:T 1,.,. 1.56939e-05 0 2 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr2:739364:G:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.5,.,. dominant HG002 HG002 chr2:811514:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.515152,.,. recessive HG002 HG002 chr2:1020587:A:C 2,.,. -1 -1 -1 -1 -1 -1 SNTG2 50_intron 33,.,. 1,.,. SNTG2/intron/ 0.0000 1.0248 1.2560 7 dominant HG002 HG002 chr2:1094525:A:C 1,.,. -1 -1 -1 0.00105116 0 3 SNTG2 50_intron 29,.,. 0.448276,.,. SNTG2/intron/ 0.0000 1.0248 1.2560 7 dominant HG002 HG002 chr2:1120364:A:T 1,.,. 6.57073e-06 0 1 -1 -1 -1 SNTG2 50_intron 36,.,. 0.527778,.,. SNTG2/intron/;SNTG2/non_coding/ 0.0000 1.0248 1.2560 7 dominant HG002 HG002 chr2:1222130:T:TCTCTGTCTCTGCCTATCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTCTGG 1,.,. -1 -1 -1 -1 -1 -1 SNTG2 50_intron 34,.,. 0.382353,.,. SNTG2/intron/;SNTG2/non_coding/ 0.0000 1.0248 1.2560 7 dominant HG002 HG002 chr2:1320308:G:A 1,.,. -1 -1 -1 -1 -1 -1 SNTG2 50_intron 37,.,. 0.324324,.,. SNTG2/intron/;SNTG2/non_coding/ 0.0000 1.0248 1.2560 7 dominant HG002 HG002 chr2:1345131:A:T 1,.,. -1 -1 -1 -1 -1 -1 SNTG2 50_intron 24,.,. 0.458333,.,. SNTG2/intron/;SNTG2/non_coding/ 0.0000 1.0248 1.2560 7 dominant HG002 HG002 chr2:1593193:A:T 1,.,. 1.31363e-05 0 2 -1 -1 -1 27,.,. 0.37037,.,. dominant HG002 HG002 chr2:1593942:G:T 1,.,. 1.3128e-05 0 2 -1 -1 -1 32,.,. 0.375,.,. recessive HG002 HG002 chr2:1703797:A:AGC 2,.,. -1 -1 -1 -1 -1 -1 PXDN 50_intron 16,.,. 1,.,. PXDN/intron/;PXDN/non_coding/ 0.0000 0.5522 0.6770 2 Anterior segment dysgenesis 7 0.000 recessive HG002 HG002 chr2:1704195:AGGT:A 2,.,. -1 -1 -1 -1 -1 -1 PXDN 50_intron 17,.,. 1,.,. PXDN/intron/;PXDN/non_coding/ 0.0000 0.5522 0.6770 2 Anterior segment dysgenesis 7 0.000 recessive HG002 HG002 chr2:1704204:A:G 2,.,. -1 -1 -1 -1 -1 -1 PXDN 50_intron 17,.,. 1,.,. PXDN/intron/;PXDN/non_coding/ 0.0000 0.5522 0.6770 2 Anterior segment dysgenesis 7 0.000 dominant HG002 HG002 chr2:1759734:T:C 1,.,. 1.97252e-05 0 3 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr2:2003988:AGCGTTCTTTCCTGCAT:A 1,.,. 1.86933e-05 0 2 -1 -1 -1 MYT1L 50_intron 42,.,. 0.547619,.,. MYT1L/intron/;MYT1L/non_coding/ 1.0000 0.0373 0.0850 0 Intellectual disability, autosomal dominant 39 0.000 dominant HG002 HG002 chr2:2013933:G:T 1,.,. 1.31365e-05 0 2 -1 -1 -1 MYT1L 50_intron 32,.,. 0.65625,.,. MYT1L/intron/;MYT1L/non_coding/ 1.0000 0.0373 0.0850 0 Intellectual disability, autosomal dominant 39 0.000 dominant HG002 HG002 chr2:2105921:G:C 1,.,. -1 -1 -1 -1 -1 -1 MYT1L 50_intron 37,.,. 0.459459,.,. MYT1L/intron/;MYT1L/non_coding/ 1.0000 0.0373 0.0850 0 Intellectual disability, autosomal dominant 39 0.000 dominant HG002 HG002 chr2:2142100:A:G 1,.,. 1.97205e-05 0 3 -1 -1 -1 MYT1L 50_intron 36,.,. 0.416667,.,. MYT1L/intron/;MYT1L/non_coding/ 1.0000 0.0373 0.0850 0 Intellectual disability, autosomal dominant 39 0.000 dominant HG002 HG002 chr2:2706701:G:A 1,.,. 1.97444e-05 0 3 -1 -1 -1 26,.,. 0.384615,.,. recessive HG002 HG002 chr2:2780747:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr2:2780748:C:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr2:2780749:A:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chr2:2830252:CTAT:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr2:2830257:C:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr2:2830258:C:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr2:2838985:G:C 1,.,. 1.97176e-05 0 3 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr2:2882244:G:A 1,.,. 6.57168e-06 0 1 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr2:3001946:C:G 1,.,. 1.97215e-05 0 3 -1 -1 -1 38,.,. 0.5,.,. recessive HG002 HG002 chr2:3151921:TCTCGCCTCACAGGAA:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr2:3151937:G:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chr2:3181290:T:A 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.6,.,. recessive HG002 HG002 chr2:3294995:A:C 2,.,. -1 -1 -1 -1 -1 -1 EIPR1 50_intron 26,.,. 1,.,. EIPR1/intron/;EIPR1/non_coding/ 0.0002 0.5441 0.7600 3 dominant HG002 HG002 chr2:3380712:C:T 1,.,. 2.62847e-05 0 4 -1 -1 -1 TRAPPC12 50_intron 26,.,. 0.346154,.,. TRAPPC12/intron/;TRAPPC12/non_coding/ 0.0000 0.9436 1.1920 6 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0.000 dominant HG002 HG002 chr2:3488945:C:T 1,.,. 2.62743e-05 0 4 -1 -1 -1 29,.,. 0.62069,.,. dominant HG002 HG002 chr2:3696856:C:A 1,.,. -1 -1 -1 -1 -1 -1 ALLC 50_intron 29,.,. 0.37931,.,. ALLC/intron/;ALLC/non_coding/ 0.0000 0.8625 1.1440 6 recessive HG002 HG002 chr2:3837742:T:A 2,.,. -1 -1 -1 -1 -1 -1 DCDC2C 50_intron 35,.,. 1,.,. DCDC2C/intron/ 0.0000 1.1653 1.4980 8 recessive HG002 HG002 chr2:3837743:G:C 2,.,. -1 -1 -1 -1 -1 -1 DCDC2C 50_intron 35,.,. 1,.,. DCDC2C/intron/ 0.0000 1.1653 1.4980 8 dominant HG002 HG002 chr2:3861796:CTCTCTCTA:C 1,.,. 1.83217e-05 0 1 -1 -1 -1 44,.,. 0.454545,.,. recessive HG002 HG002 chr2:3862060:C:CTCTATATATATA 2,.,. 0.00722529 3 442 0.00840925 0 24 28,.,. 1,.,. dominant HG002 HG002 chr2:3927771:GA:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr2:3927775:C:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr2:3927776:C:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr2:4069249:AATT:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr2:4100630:T:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr2:4241611:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.3,.,. dominant HG002 HG002 chr2:4269367:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.352941,.,. dominant HG002 HG002 chr2:4349766:G:A 1,.,. 6.69604e-06 0 1 -1 -1 -1 36,.,. 0.611111,.,. dominant HG002 HG002 chr2:4975412:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr2:5007310:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr2:5102578:TTTG:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr2:5102585:T:G 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.481481,.,. dominant HG002 HG002 chr2:5102588:G:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.481481,.,. dominant HG002 HG002 chr2:5255541:ACTCATT:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr2:5255548:T:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr2:5812800:ACACACACACT:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr2:5812814:A:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr2:5967200:TGGGTTGGGG:T 1,.,. -1 -1 -1 0.000700771 0 2 37,.,. 0.432432,.,. dominant HG002 HG002 chr2:5967213:CCAGTCCT:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr2:5967221:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr2:5967222:G:T 1,.,. 6.57151e-06 0 1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr2:6039073:G:A 1,.,. 1.31633e-05 0 2 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr2:6193556:T:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. recessive HG002 HG002 chr2:6253223:C:G 2,.,. 0.00103413 1 12 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr2:6253236:C:CA 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr2:6253237:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr2:6253895:T:C 2,.,. 0.000124502 0 1 0.00105116 1 3 30,.,. 1,.,. recessive HG002 HG002 chr2:6253898:ATTGCACCCAG:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr2:6253909:A:C 2,.,. 0.000245942 0 2 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr2:6295467:A:AT 1,.,. 6.57212e-06 0 1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr2:6512464:C:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. recessive HG002 HG002 chr2:6861093:TACACACACACGC:T 2,.,. -1 -1 -1 0.00946041 1 27 CMPK2 50_intron 33,.,. 1,.,. CMPK2/intron/;CMPK2/non_coding/ 0.0000 1.2685 1.7080 8 Basal ganglia calcification, idiopathic, 10, autosomal recessive dominant HG002 HG002 chr2:6868481:G:A 1,.,. -1 -1 -1 -1 -1 -1 RSAD2 50_intron 34,.,. 0.5,.,. RSAD2/non_coding/;RSAD2/intron/ 0.0000 0.9809 1.3010 7 dominant HG002 HG002 chr2:6989302:A:AGACCT 1,.,. 4.94682e-05 0 4 -1 -1 -1 RNF144A 50_intron 38,.,. 0.447368,.,. RNF144A/intron/;RNF144A/non_coding/ 0.9112 0.3324 0.5500 1 dominant HG002 HG002 chr2:6990562:T:TAC 1,.,. -1 -1 -1 -1 -1 -1 RNF144A 50_intron 34,.,. 0.352941,.,. RNF144A/intron/;RNF144A/non_coding/ 0.9112 0.3324 0.5500 1 dominant HG002 HG002 chr2:7340189:C:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr2:7340191:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr2:7340192:A:G 1,.,. 3.39052e-05 0 1 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr2:7340195:G:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr2:7340197:A:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr2:7369524:T:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr2:7442365:C:T 1,.,. -1 -1 -1 -1 -1 -1 AC013460.1 53_non_coding 42,.,. 0.47619,.,. AC013460.1/non_coding/ dominant HG002 HG002 chr2:7903587:C:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.322581,.,. dominant HG002 HG002 chr2:7979620:CGGGGGAGGTGAGGAAGAGAGAGCAGGGGGAGGTGAGGAAGAGAGAGCA:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. recessive HG002 HG002 chr2:8234041:AACTCACAGAT:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr2:8234052:G:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr2:8255367:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.380952,.,. dominant HG002 HG002 chr2:8402488:AATGGC:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr2:8477348:A:G 1,.,. 6.56823e-06 0 1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr2:8511224:GGAACTGCA:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr2:8511234:G:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr2:8515844:CCTCT:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr2:8615470:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr2:8620963:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.324324,.,. dominant HG002 HG002 chr2:8627013:T:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. recessive HG002 HG002 chr2:8628629:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr2:9049222:CAAAAAAAAAA:C 2,.,. -1 -1 -1 0.0175193 0 50 42,.,. 1,.,. recessive HG002 HG002 chr2:9059393:G:C 2,.,. 0.000873108 0 9 0.0143658 0 41 47,.,. 1,.,. dominant HG002 HG002 chr2:9593905:A:ATATATATAT 1,.,. -1 -1 -1 -1 -1 -1 YWHAQ 50_intron 28,.,. 0.571429,.,. YWHAQ/intron/;YWHAQ/non_coding/ 0.9928 0.2307 0.4550 1 dominant HG002 HG002 chr2:9720651:C:T 1,.,. 6.56849e-06 0 1 -1 -1 -1 26,.,. 0.576923,.,. dominant HG002 HG002 chr2:9955775:G:A 1,.,. -1 -1 -1 -1 -1 -1 GRHL1 50_intron 43,.,. 0.511628,.,. GRHL1/intron/;GRHL1/non_coding/ 0.0018 0.5563 0.8340 3 recessive HG002 HG002 chr2:10126201:A:G 2,.,. -1 -1 -1 -1 -1 -1 RRM2 50_intron 27,.,. 1,.,. RRM2/intron/;RRM2/non_coding/ 1.0000 0.1481 0.2920 0 recessive HG002 HG002 chr2:10126202:T:G 2,.,. 0.00158078 4 20 -1 -1 -1 RRM2 50_intron 27,.,. 1,.,. RRM2/intron/;RRM2/non_coding/ 1.0000 0.1481 0.2920 0 dominant HG002 HG002 chr2:10192128:G:T 1,.,. -1 -1 -1 -1 -1 -1 RRM2 50_intron 23,.,. 0.521739,.,. RRM2/intron/;RRM2/non_coding/ 1.0000 0.1481 0.2920 0 recessive HG002 HG002 chr2:10216032:T:TGTGTGTGACAGAGA 2,.,. -1 -1 -1 0.000700771 0 2 19,.,. 1,.,. recessive HG002 HG002 chr2:10216045:G:A 2,.,. 7.58631e-05 0 11 0.00140154 0 4 21,.,. 1,.,. recessive HG002 HG002 chr2:10271655:ATGCG:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr2:10271662:A:T 2,.,. 2.49283e-05 0 2 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr2:10533349:T:A 2,.,. 1.97335e-05 0 3 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr2:10536460:C:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr2:10592027:C:A 2,.,. 0.00376483 2 245 -1 -1 -1 NOL10 50_intron 42,.,. 1,.,. NOL10/intron/ 0.0000 0.7534 1.0070 5 recessive HG002 HG002 chr2:10595598:G:T 2,.,. -1 -1 -1 0.0171689 0 49 NOL10 50_intron 32,.,. 1,.,. NOL10/intron/ 0.0000 0.7534 1.0070 5 recessive HG002 HG002 chr2:10595604:G:T 2,.,. -1 -1 -1 -1 -1 -1 NOL10 50_intron 41,.,. 1,.,. NOL10/intron/ 0.0000 0.7534 1.0070 5 recessive HG002 HG002 chr2:10610380:T:G 2,.,. 0.00128746 0 196 0.00105116 0 3 NOL10 50_intron 54,.,. 1,.,. NOL10/intron/ 0.0000 0.7534 1.0070 5 dominant HG002 HG002 chr2:10843750:TACTAGTACACGTC:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr2:11206329:CAAAGCATTATTA:C 1,.,. -1 -1 -1 -1 -1 -1 ROCK2 50_intron 50,.,. 0.44,.,. ROCK2/intron/ 1.0000 0.2496 0.3460 0 recessive HG002 HG002 chr2:11367397:C:CACACACTCACACCCA 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr2:11676368:G:C 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.571429,.,. dominant HG002 HG002 chr2:11684946:CATCCTGCCCT:C 1,.,. -1 -1 -1 -1 -1 -1 LPIN1 50_intron 22,.,. 0.590909,.,. LPIN1/intron/ 0.0000 0.6291 0.7840 3 Myoglobinuria, acute recurrent, autosomal recessive 0.000 dominant HG002 HG002 chr2:11884365:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr2:12030447:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr2:12516273:AATTG:A 1,.,. 9.9936e-06 0 1 -1 -1 -1 41,.,. 0.609756,.,. dominant HG002 HG002 chr2:12516285:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.609756,.,. dominant HG002 HG002 chr2:12676543:G:A 1,.,. 2.09999e-05 0 3 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr2:12739233:C:T 1,.,. 2.63006e-05 0 4 -1 -1 -1 TRIB2 50_intron 37,.,. 0.378378,.,. TRIB2/intron/ 1.0000 0.0707 0.2230 0 dominant HG002 HG002 chr2:13030389:A:T 1,.,. 3.67809e-05 0 1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr2:13030393:A:T 1,.,. -1 -1 -1 0.000700771 0 2 47,.,. 0.446809,.,. dominant HG002 HG002 chr2:13333980:C:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr2:13497009:AGATTGCT:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.636364,.,. dominant HG002 HG002 chr2:13497017:G:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.636364,.,. dominant HG002 HG002 chr2:13718473:A:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr2:13810049:T:TATA 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr2:14483747:A:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.604651,.,. dominant HG002 HG002 chr2:14483749:A:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.604651,.,. dominant HG002 HG002 chr2:14483750:AACACATGATT:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.604651,.,. recessive HG002 HG002 chr2:14852497:G:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr2:14852498:C:CATACTGCCCA 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr2:15367729:AG:A 1,.,. -1 -1 -1 -1 -1 -1 NBAS 50_intron 32,.,. 0.59375,.,. NBAS/intron/ 0.0000 0.6767 0.7610 3 Infantile liver failure syndrome 2;Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 0.000 dominant HG002 HG002 chr2:15611648:C:G 1,.,. -1 -1 -1 -1 -1 -1 DDX1 50_intron 52,.,. 0.673077,.,. DDX1/intron/ 1.0000 0.1828 0.3300 0 recessive HG002 HG002 chr2:15781183:T:A 2,.,. 0.00164965 3 241 0.00140154 0 4 28,.,. 1,.,. recessive HG002 HG002 chr2:16118123:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr2:16118127:C:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr2:16118200:A:T 2,.,. -1 -1 -1 0.00105116 0 3 18,.,. 1,.,. recessive HG002 HG002 chr2:16140738:T:C 2,.,. 0.0152672 0 4 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr2:16140739:C:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr2:16140740:A:G 2,.,. 2.62878e-05 0 4 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chr2:16159456:C:T 1,.,. 1.0656e-05 0 1 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr2:16239541:AGC:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr2:16239547:A:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr2:16293400:CACACACACAA:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr2:16293418:C:A 1,.,. 1.56873e-05 0 1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr2:16355650:A:C 1,.,. -1 -1 -1 0.000700771 0 2 33,.,. 0.393939,.,. dominant HG002 HG002 chr2:16594333:C:T 1,.,. -1 -1 -1 0.00140154 0 4 CYRIA 50_intron 38,.,. 0.552632,.,. CYRIA/intron/ 0.5899 0.3795 0.6150 2 dominant HG002 HG002 chr2:17303592:C:A 1,.,. 2.62885e-05 0 4 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr2:17303973:G:C 1,.,. 2.62936e-05 0 4 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr2:17964019:T:TGTGTGTGTGCGTGC 1,.,. -1 -1 -1 -1 -1 -1 KCNS3 53_non_coding 36,.,. 0.416667,.,. KCNS3/non_coding/ 0.2803 0.4128 0.6450 2 dominant HG002 HG002 chr2:18054197:TGAGTATATG:T 1,.,. -1 -1 -1 -1 -1 -1 KCNS3 53_non_coding 48,.,. 0.479167,.,. KCNS3/non_coding/ 0.2803 0.4128 0.6450 2 dominant HG002 HG002 chr2:18054207:A:T 1,.,. -1 -1 -1 -1 -1 -1 KCNS3 53_non_coding 47,.,. 0.489362,.,. KCNS3/non_coding/ 0.2803 0.4128 0.6450 2 dominant HG002 HG002 chr2:18755490:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.589744,.,. dominant HG002 HG002 chr2:18811012:C:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr2:18822125:C:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr2:18907101:C:CTCTCTCTT 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. dominant HG002 HG002 chr2:19313762:T:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.357143,.,. dominant HG002 HG002 chr2:19313763:A:G 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.321429,.,. dominant HG002 HG002 chr2:19313764:G:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.333333,.,. dominant HG002 HG002 chr2:19481918:G:C 1,.,. 1.97605e-05 0 3 -1 -1 -1 44,.,. 0.590909,.,. recessive HG002 HG002 chr2:19717060:T:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr2:19835624:C:G 1,.,. 2.62795e-05 0 4 -1 -1 -1 43,.,. 0.604651,.,. dominant HG002 HG002 chr2:20019883:G:GGAC 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr2:20019884:C:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr2:20053818:A:AAAAG 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.354839,.,. dominant HG002 HG002 chr2:20069992:G:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.431818,.,. dominant HG002 HG002 chr2:20102717:G:GAGAAGA 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.409091,.,. dominant HG002 HG002 chr2:20266215:G:C 1,.,. 1.97174e-05 0 3 -1 -1 -1 PUM2 50_intron 38,.,. 0.526316,.,. PUM2/intron/ 0.0002 0.4610 0.5760 1 dominant HG002 HG002 chr2:20362867:T:C 1,.,. 2.02944e-05 0 3 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr2:20531214:C:T 1,.,. 2.62892e-05 0 4 -1 -1 -1 29,.,. 0.586207,.,. dominant HG002 HG002 chr2:20883597:T:C 1,.,. 2.62819e-05 0 4 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr2:21100990:C:CTCTG 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr2:21100997:A:T 1,.,. 4.89081e-05 0 4 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr2:21100998:T:G 1,.,. 2.65961e-05 0 4 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr2:21191819:C:CCCTCTCCTCT 1,.,. 5.03508e-05 1 3 -1 -1 -1 41,.,. 0.390244,.,. recessive HG002 HG002 chr2:21219795:C:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr2:21219796:C:CAT 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr2:21717769:C:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. recessive HG002 HG002 chr2:21928283:G:GAC 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr2:21928284:C:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr2:22532170:T:TTATATATATATATA 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr2:22775855:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.636364,.,. recessive HG002 HG002 chr2:22930954:C:CAGGGCCAGGTGCCAG 2,.,. 1.37519e-05 0 2 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr2:22930973:G:A 2,.,. 0.000283137 0 43 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr2:23045300:TATGTGCA:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr2:23045310:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr2:23229371:T:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. recessive HG002 HG002 chr2:23311034:GGGGAAA:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr2:23311042:A:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr2:23311043:G:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr2:23311044:C:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr2:23808142:T:A 1,.,. -1 -1 -1 -1 -1 -1 ATAD2B 50_intron 46,.,. 0.369565,.,. ATAD2B/intron/;ATAD2B/non_coding/ 1.0000 0.2694 0.3760 0 dominant HG002 HG002 chr2:24236672:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 ITSN2 50_intron 33,.,. 0.424242,.,. ITSN2/intron/ 0.0000 0.6459 0.7630 3 recessive HG002 HG002 chr2:24516952:A:G 2,.,. -1 -1 -1 -1 -1 -1 NCOA1 50_intron 37,.,. 1,.,. NCOA1/non_coding/;NCOA1/intron/ 1.0000 0.2196 0.2980 0 recessive HG002 HG002 chr2:24516953:C:T 2,.,. 0.00918772 1 176 -1 -1 -1 NCOA1 50_intron 37,.,. 1,.,. NCOA1/non_coding/;NCOA1/intron/ 1.0000 0.2196 0.2980 0 recessive HG002 HG002 chr2:24516956:G:A 2,.,. -1 -1 -1 -1 -1 -1 NCOA1 50_intron 37,.,. 1,.,. NCOA1/non_coding/;NCOA1/intron/ 1.0000 0.2196 0.2980 0 recessive HG002 HG002 chr2:24516959:T:TACAC 2,.,. 6.6313e-05 0 2 -1 -1 -1 NCOA1 50_intron 36,.,. 1,.,. NCOA1/non_coding/;NCOA1/intron/ 1.0000 0.2196 0.2980 0 recessive HG002 HG002 chr2:24542267:C:CAAATA 2,.,. -1 -1 -1 -1 -1 -1 NCOA1 50_intron 45,.,. 1,.,. NCOA1/non_coding/;NCOA1/intron/ 1.0000 0.2196 0.2980 0 recessive HG002 HG002 chr2:24542268:T:A 2,.,. -1 -1 -1 -1 -1 -1 NCOA1 50_intron 45,.,. 1,.,. NCOA1/non_coding/;NCOA1/intron/ 1.0000 0.2196 0.2980 0 dominant HG002 HG002 chr2:24593395:A:G 1,.,. -1 -1 -1 -1 -1 -1 NCOA1 50_intron 49,.,. 0.469388,.,. NCOA1/non_coding/;NCOA1/intron/ 1.0000 0.2196 0.2980 0 dominant HG002 HG002 chr2:24998738:C:CTG 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr2:24998739:C:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr2:24998741:A:G 1,.,. 6.61498e-06 0 1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr2:24998742:C:A 1,.,. -1 -1 -1 0.00105116 0 3 35,.,. 0.6,.,. dominant HG002 HG002 chr2:24998743:C:A 1,.,. -1 -1 -1 0.00105116 0 3 36,.,. 0.583333,.,. dominant HG002 HG002 chr2:24998744:T:A 1,.,. -1 -1 -1 0.00105116 0 3 36,.,. 0.583333,.,. recessive HG002 HG002 chr2:25014503:C:CAAAAT 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr2:25014508:T:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr2:25014512:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr2:25014513:T:TTCCAAATAATCCAAATTATTCCAAATAATTCCAAAATAATGA 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chr2:25234286:C:T 1,.,. -1 -1 -1 -1 -1 -1 DNMT3A 14_missense 25,.,. 0.52,.,. DNMT3A/missense/ENST00000264709;DNMT3A/missense/ENST00000321117;DNMT3A/missense/ENST00000380746;DNMT3A/missense/ENST00000402667;DNMT3A/3_prime_utr&NMD_transcript/ENST00000380756 0.0000 2.4957 1.9980 9 Heyn-Sproul-Jackson syndrome;Tatton-Brown-Rahman overgrowth syndrome 0.000 dominant HG002 HG002 chr2:25491148:C:CACACACACACAG 1,.,. -1 -1 -1 -1 -1 -1 DTNB 50_intron 36,.,. 0.444444,.,. DTNB/intron/;DTNB/non_coding/ 0.0000 0.7577 0.9360 4 dominant HG002 HG002 chr2:25491152:C:CACACACAG 1,.,. -1 -1 -1 -1 -1 -1 DTNB 50_intron 37,.,. 0.540541,.,. DTNB/intron/;DTNB/non_coding/ 0.0000 0.7577 0.9360 4 dominant HG002 HG002 chr2:25521612:GTGATCCACTCCC:G 1,.,. -1 -1 -1 -1 -1 -1 DTNB 50_intron 37,.,. 0.486486,.,. DTNB/intron/;DTNB/non_coding/ 0.0000 0.7577 0.9360 4 dominant HG002 HG002 chr2:25521626:A:T 1,.,. -1 -1 -1 -1 -1 -1 DTNB 50_intron 37,.,. 0.486486,.,. DTNB/intron/;DTNB/non_coding/ 0.0000 0.7577 0.9360 4 recessive HG002 HG002 chr2:25634691:TTC:T 2,.,. -1 -1 -1 -1 -1 -1 DTNB 50_intron 39,.,. 1,.,. DTNB/intron/;DTNB/non_coding/ 0.0000 0.7577 0.9360 4 recessive HG002 HG002 chr2:25634694:T:C 2,.,. 2.58612e-05 1 3 -1 -1 -1 DTNB 50_intron 40,.,. 1,.,. DTNB/intron/;DTNB/non_coding/ 0.0000 0.7577 0.9360 4 recessive HG002 HG002 chr2:25941848:C:CTAG 2,.,. -1 -1 -1 -1 -1 -1 KIF3C 50_intron 38,.,. 1,.,. KIF3C/intron/;KIF3C/non_coding/ 1.0000 0.1568 0.2660 0 recessive HG002 HG002 chr2:25941849:A:C 2,.,. -1 -1 -1 -1 -1 -1 KIF3C 50_intron 38,.,. 1,.,. KIF3C/intron/;KIF3C/non_coding/ 1.0000 0.1568 0.2660 0 dominant HG002 HG002 chr2:26128172:C:G 1,.,. -1 -1 -1 -1 -1 -1 RAB10 50_intron 34,.,. 0.323529,.,. RAB10/intron/;RAB10/non_coding/ 0.9539 0.2021 0.5220 1 dominant HG002 HG002 chr2:26877911:T:C 1,.,. 1.31363e-05 0 2 -1 -1 -1 DPYSL5 50_intron 33,.,. 0.424242,.,. DPYSL5/intron/ 1.0000 0.1487 0.2680 0 Ritscher-Schinzel syndrome 4 0.000 dominant HG002 HG002 chr2:28076837:C:G 1,.,. -1 -1 -1 -1 -1 -1 BABAM2 50_intron 45,.,. 0.333333,.,. BABAM2/intron/ 0.0001 0.5492 0.7530 3 dominant HG002 HG002 chr2:28461572:C:CAAAATAAAATAAATAAAAT 1,.,. -1 -1 -1 -1 -1 -1 PLB1 50_intron 37,.,. 0.432432,.,. PLB1/intron/ 0.0000 0.9961 1.1140 6 dominant HG002 HG002 chr2:28461594:A:AAAT 1,.,. -1 -1 -1 -1 -1 -1 PLB1 50_intron 37,.,. 0.459459,.,. PLB1/intron/ 0.0000 0.9961 1.1140 6 dominant HG002 HG002 chr2:28461596:T:A 1,.,. -1 -1 -1 -1 -1 -1 PLB1 50_intron 37,.,. 0.459459,.,. PLB1/intron/ 0.0000 0.9961 1.1140 6 dominant HG002 HG002 chr2:28771052:A:C 1,.,. -1 -1 -1 -1 -1 -1 PPP1CB 50_intron 33,.,. 0.363636,.,. PPP1CB/intron/;PPP1CB/non_coding/ 0.9999 0.0786 0.2470 0 Noonan syndrome-like disorder with loose anagen hair 2 0.000 dominant HG002 HG002 chr2:29004629:TGTGA:T 1,.,. -1 -1 -1 -1 -1 -1 TOGARAM2 50_intron 27,.,. 0.333333,.,. TOGARAM2/intron/ 0.0000 0.9913 1.1900 6 dominant HG002 HG002 chr2:29005492:T:C 1,.,. -1 -1 -1 -1 -1 -1 TOGARAM2 50_intron 26,.,. 0.692308,.,. TOGARAM2/intron/ 0.0000 0.9913 1.1900 6 dominant HG002 HG002 chr2:29154286:G:A 1,.,. 6.57704e-06 0 1 -1 -1 -1 CLIP4 50_intron 49,.,. 0.510204,.,. CLIP4/intron/ 0.0001 0.5307 0.7200 2 recessive HG002 HG002 chr2:29212750:A:ACGC 2,.,. -1 -1 -1 -1 -1 -1 ALK 50_intron 33,.,. 1,.,. ALK/intron/;ALK/non_coding/ 0.0000 0.4647 0.5620 1 Neuroblastoma, susceptibility to, 3 0.000 recessive HG002 HG002 chr2:29212751:G:T 2,.,. -1 -1 -1 -1 -1 -1 ALK 50_intron 33,.,. 1,.,. ALK/intron/;ALK/non_coding/ 0.0000 0.4647 0.5620 1 Neuroblastoma, susceptibility to, 3 0.000 dominant HG002 HG002 chr2:29674881:C:T 1,.,. 4.24502e-05 0 4 -1 -1 -1 ALK 50_intron 43,.,. 0.418605,.,. ALK/intron/ 0.0000 0.4647 0.5620 1 Neuroblastoma, susceptibility to, 3 0.000 dominant HG002 HG002 chr2:29822295:C:T 1,.,. 6.57134e-06 0 1 -1 -1 -1 ALK 50_intron 25,.,. 0.4,.,. ALK/intron/ 0.0000 0.4647 0.5620 1 Neuroblastoma, susceptibility to, 3 0.000 dominant HG002 HG002 chr2:30260361:AGGTCACAAATGGCAAT:A 1,.,. -1 -1 -1 -1 -1 -1 LBH 50_intron 23,.,. 0.347826,.,. LBH/intron/ 0.0682 0.5428 1.0710 5 dominant HG002 HG002 chr2:30260380:C:G 1,.,. -1 -1 -1 -1 -1 -1 LBH 50_intron 22,.,. 0.409091,.,. LBH/intron/ 0.0682 0.5428 1.0710 5 dominant HG002 HG002 chr2:30319656:G:A 1,.,. -1 -1 -1 -1 -1 -1 LBH 50_intron 29,.,. 0.344828,.,. LBH/intron/ 0.0682 0.5428 1.0710 5 dominant HG002 HG002 chr2:30430243:A:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr2:30643111:C:CCACCTCACCT 1,.,. -1 -1 -1 -1 -1 -1 LCLAT1 36_3_prime_utr 36,.,. 0.416667,.,. LCLAT1/3_prime_utr/ENST00000379509;LCLAT1/3_prime_utr/ENST00000309052 0.1411 0.4349 0.6800 2 dominant HG002 HG002 chr2:30749760:T:A 1,.,. -1 -1 -1 -1 -1 -1 CAPN13 50_intron 26,.,. 0.538462,.,. CAPN13/intron/;CAPN13/non_coding/ 0.0000 0.9318 1.1210 6 dominant HG002 HG002 chr2:31559843:C:A 1,.,. -1 -1 -1 -1 -1 -1 SRD5A2 50_intron 43,.,. 0.395349,.,. SRD5A2/intron/ 0.0000 1.2273 1.7170 8 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 0.000 recessive HG002 HG002 chr2:31581217:C:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr2:31581218:A:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr2:31581219:T:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr2:31627431:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr2:31646177:ACACG:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr2:31646183:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr2:32274666:A:G 1,.,. 6.57203e-06 0 1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr2:32527536:A:G 1,.,. -1 -1 -1 -1 -1 -1 BIRC6 50_intron 47,.,. 0.510638,.,. BIRC6/intron/;BIRC6/non_coding/ 1.0000 0.1751 0.2130 0 dominant HG002 HG002 chr2:32853730:A:G 1,.,. 1.31263e-05 0 2 -1 -1 -1 24,.,. 0.666667,.,. dominant HG002 HG002 chr2:33131185:G:A 1,.,. -1 -1 -1 -1 -1 -1 LTBP1 50_intron 49,.,. 0.428571,.,. LTBP1/intron/ 0.0000 0.6252 0.7310 2 Cutis laxa, autosomal recessive, type 2E 0.000 dominant HG002 HG002 chr2:33736756:T:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5625,.,. dominant HG002 HG002 chr2:33771309:A:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr2:33771310:T:TGTATGTG 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr2:33825570:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr2:33825571:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr2:33825572:A:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr2:33980666:A:ATATTTATT 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.372549,.,. recessive HG002 HG002 chr2:34129009:GAGA:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr2:34129015:C:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr2:34378430:A:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.541667,.,. dominant HG002 HG002 chr2:34550292:C:CTCTA 1,.,. 5.10152e-05 0 3 -1 -1 -1 33,.,. 0.333333,.,. dominant HG002 HG002 chr2:34689442:A:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.341463,.,. recessive HG002 HG002 chr2:34708736:C:CTAG 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr2:34708739:A:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chr2:34714768:T:TATG 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.416667,.,. recessive HG002 HG002 chr2:34888912:C:CTCTTAA 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr2:34888913:A:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr2:35250262:T:A 1,.,. 7.63417e-06 0 1 -1 -1 -1 47,.,. 0.382979,.,. dominant HG002 HG002 chr2:35417852:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr2:35513295:T:C 1,.,. 6.56866e-06 0 1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr2:35901878:A:T 1,.,. 6.62243e-06 0 1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr2:36337740:C:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr2:36651970:T:TGTC 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr2:36651974:T:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. recessive HG002 HG002 chr2:36693345:T:TTGTATTA 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr2:36699595:G:T 1,.,. 1.77752e-05 0 1 -1 -1 -1 VIT 50_intron 31,.,. 0.580645,.,. VIT/intron/ 0.0000 1.2294 1.4540 8 dominant HG002 HG002 chr2:36765414:C:CGAGAGAGAGAGA 1,.,. -1 -1 -1 -1 -1 -1 VIT 50_intron 28,.,. 0.428571,.,. VIT/intron/ 0.0000 1.2294 1.4540 8 recessive HG002 HG002 chr2:36973979:G:A 2,.,. -1 -1 -1 -1 -1 -1 HEATR5B 50_intron 35,.,. 1,.,. HEATR5B/intron/ 0.0000 0.6517 0.7690 3 recessive HG002 HG002 chr2:37076143:CTCA:C 2,.,. -1 -1 -1 -1 -1 -1 HEATR5B 50_intron 40,.,. 1,.,. HEATR5B/intron/;HEATR5B/non_coding/ 0.0000 0.6517 0.7690 3 recessive HG002 HG002 chr2:37076149:A:C 2,.,. -1 -1 -1 -1 -1 -1 HEATR5B 50_intron 40,.,. 1,.,. HEATR5B/intron/;HEATR5B/non_coding/ 0.0000 0.6517 0.7690 3 dominant HG002 HG002 chr2:37599333:A:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.631579,.,. dominant HG002 HG002 chr2:37671821:G:C 1,.,. -1 -1 -1 -1 -1 -1 CDC42EP3 50_intron 39,.,. 0.410256,.,. CDC42EP3/intron/ 0.9307 0.2433 0.5570 1 dominant HG002 HG002 chr2:37671822:G:T 1,.,. -1 -1 -1 -1 -1 -1 CDC42EP3 50_intron 36,.,. 0.5,.,. CDC42EP3/intron/ 0.9307 0.2433 0.5570 1 dominant HG002 HG002 chr2:37849159:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.636364,.,. dominant HG002 HG002 chr2:37849160:T:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.636364,.,. dominant HG002 HG002 chr2:37880840:C:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.684211,.,. dominant HG002 HG002 chr2:37880841:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.684211,.,. dominant HG002 HG002 chr2:37880842:C:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.684211,.,. dominant HG002 HG002 chr2:37887368:A:C 1,.,. 4.47127e-05 0 4 -1 -1 -1 35,.,. 0.685714,.,. recessive HG002 HG002 chr2:37985378:T:A 2,.,. 0.00140509 1 213 0.00175193 0 5 RMDN2 50_intron 46,.,. 1,.,. RMDN2/intron/;RMDN2/non_coding/ 0.0000 1.0740 1.5850 8 dominant HG002 HG002 chr2:38109180:G:C 1,.,. -1 -1 -1 -1 -1 -1 CYP1B1 50_intron 39,.,. 0.487179,.,. CYP1B1/intron/ 0.0000 0.7630 1.0890 5 Anterior segment dysgenesis 6;Glaucoma 3A;Glaucoma 3, primary infantile, B 0.000 dominant HG002 HG002 chr2:38706862:C:G 1,.,. -1 -1 -1 -1 -1 -1 GALM 50_intron 30,.,. 0.533333,.,. GALM/intron/ 0.0000 1.0716 1.4210 7 Galactosemia 4 0.000 dominant HG002 HG002 chr2:38708107:A:AAAAAT 1,.,. -1 -1 -1 -1 -1 -1 GALM 50_intron 28,.,. 0.464286,.,. GALM/intron/ 0.0000 1.0716 1.4210 7 Galactosemia 4 0.000 dominant HG002 HG002 chr2:38773408:T:C 1,.,. -1 -1 -1 -1 -1 -1 GEMIN6 50_intron 28,.,. 0.428571,.,. GEMIN6/intron/ 0.0001 0.8537 1.3560 7 recessive HG002 HG002 chr2:39783596:C:T 2,.,. 0.00118171 0 60 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr2:39922642:C:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr2:40172826:C:G 1,.,. 2.6285e-05 0 4 -1 -1 -1 SLC8A1 50_intron 32,.,. 0.375,.,. SLC8A1/intron/ 1.0000 0.2390 0.3630 0 dominant HG002 HG002 chr2:40184177:A:T 1,.,. 2.62709e-05 0 4 -1 -1 -1 SLC8A1 50_intron 33,.,. 0.393939,.,. SLC8A1/intron/ 1.0000 0.2390 0.3630 0 dominant HG002 HG002 chr2:40187276:G:A 1,.,. 6.57056e-06 0 1 -1 -1 -1 SLC8A1 50_intron 40,.,. 0.475,.,. SLC8A1/intron/ 1.0000 0.2390 0.3630 0 dominant HG002 HG002 chr2:40253035:G:A 1,.,. -1 -1 -1 -1 -1 -1 SLC8A1 50_intron 40,.,. 0.525,.,. SLC8A1/intron/ 1.0000 0.2390 0.3630 0 dominant HG002 HG002 chr2:40253040:A:ATAT 1,.,. 1.13994e-05 0 1 -1 -1 -1 SLC8A1 50_intron 41,.,. 0.512195,.,. SLC8A1/intron/ 1.0000 0.2390 0.3630 0 dominant HG002 HG002 chr2:40588346:T:G 1,.,. 6.57921e-06 0 1 -1 -1 -1 SLC8A1 50_intron 55,.,. 0.509091,.,. SLC8A1/intron/ 1.0000 0.2390 0.3630 0 dominant HG002 HG002 chr2:40701173:G:A 1,.,. 6.60458e-06 0 1 -1 -1 -1 46,.,. 0.586957,.,. dominant HG002 HG002 chr2:40702839:G:GTCA 1,.,. 6.59622e-06 0 1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr2:40744364:A:ATATATATATATG 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.395349,.,. dominant HG002 HG002 chr2:40744379:T:C 1,.,. -1 -1 -1 0.000700771 0 2 44,.,. 0.5,.,. recessive HG002 HG002 chr2:40778128:A:C 2,.,. -1 -1 -1 0.0196216 4 56 42,.,. 1,.,. recessive HG002 HG002 chr2:40865892:A:G 2,.,. 0.000520401 2 74 0.00140154 0 4 50,.,. 0.98,.,. dominant HG002 HG002 chr2:41055039:G:A 1,.,. 2.62936e-05 0 4 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr2:41130276:C:T 1,.,. 1.97254e-05 0 3 -1 -1 -1 45,.,. 0.511111,.,. dominant HG002 HG002 chr2:41145887:A:G 1,.,. -1 -1 -1 -1 -1 -1 HNRNPA1P57 53_non_coding 44,.,. 0.477273,.,. HNRNPA1P57/non_coding/ dominant HG002 HG002 chr2:41211913:A:G 1,.,. 1.97309e-05 0 3 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr2:41221556:A:T 1,.,. 1.97143e-05 0 3 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr2:41260722:C:G 1,.,. 2.02061e-05 0 3 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr2:41358334:A:G 1,.,. 6.56918e-06 0 1 -1 -1 -1 58,.,. 0.448276,.,. dominant HG002 HG002 chr2:41483604:G:T 1,.,. 2.63044e-05 0 4 0.000700771 0 2 50,.,. 0.48,.,. dominant HG002 HG002 chr2:41639570:GACATTACA:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.333333,.,. dominant HG002 HG002 chr2:41639580:C:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.326087,.,. recessive HG002 HG002 chr2:41739470:TTTGCTGAAG:T 2,.,. 0.000107604 0 3 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr2:41739485:T:C 2,.,. 3.60257e-05 0 1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr2:41740576:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr2:41757167:A:AGATTCTCATAAG 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr2:41757168:C:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr2:41757171:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr2:41757172:T:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr2:41757176:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr2:41760777:C:A 1,.,. 2.62615e-05 0 4 0.000700771 0 2 35,.,. 0.6,.,. recessive HG002 HG002 chr2:41831190:AGACT:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr2:41831199:G:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr2:41897324:C:G 1,.,. 1.31373e-05 0 2 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr2:41921228:C:T 1,.,. 1.31396e-05 0 2 -1 -1 -1 36,.,. 0.555556,.,. recessive HG002 HG002 chr2:42120175:A:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr2:42120176:T:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr2:44045501:G:C 1,.,. 6.57091e-06 0 1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr2:44051271:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr2:44051283:T:A 1,.,. 3.39184e-05 0 4 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr2:44402306:G:C 1,.,. -1 -1 -1 -1 -1 -1 CAMKMT 50_intron 52,.,. 0.403846,.,. CAMKMT/intron/ 0.0000 1.2028 1.6430 8 0.000 dominant HG002 HG002 chr2:44402308:G:A 1,.,. -1 -1 -1 -1 -1 -1 CAMKMT 50_intron 48,.,. 0.416667,.,. CAMKMT/intron/ 0.0000 1.2028 1.6430 8 0.000 dominant HG002 HG002 chr2:44542529:ACACACACACTCTCT:A 1,.,. -1 -1 -1 -1 -1 -1 CAMKMT 50_intron 47,.,. 0.425532,.,. CAMKMT/intron/ 0.0000 1.2028 1.6430 8 0.000 dominant HG002 HG002 chr2:44588270:G:C 1,.,. 8.59107e-05 0 3 -1 -1 -1 CAMKMT 50_intron 37,.,. 0.432432,.,. CAMKMT/intron/ 0.0000 1.2028 1.6430 8 0.000 dominant HG002 HG002 chr2:45005444:CTCACT:C 1,.,. 2.62871e-05 0 4 -1 -1 -1 SIX2 36_3_prime_utr 33,.,. 0.545455,.,. SIX2/3_prime_utr/ENST00000303077 0.0000 0.8536 1.2400 7 0.000 dominant HG002 HG002 chr2:45031249:T:C 1,.,. 1.31432e-05 0 2 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr2:45224953:G:T 1,.,. 2.62781e-05 0 4 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr2:45372657:T:C 1,.,. 1.97189e-05 0 3 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr2:45414694:ACATAGT:A 1,.,. -1 -1 -1 -1 -1 -1 SRBD1 50_intron 42,.,. 0.452381,.,. SRBD1/intron/;SRBD1/non_coding/ 0.0000 0.7216 0.8720 4 dominant HG002 HG002 chr2:45414729:C:CAT 1,.,. 7.27209e-06 0 1 -1 -1 -1 SRBD1 50_intron 42,.,. 0.428571,.,. SRBD1/intron/;SRBD1/non_coding/ 0.0000 0.7216 0.8720 4 dominant HG002 HG002 chr2:45456980:T:C 1,.,. 2.63199e-05 0 4 -1 -1 -1 SRBD1 50_intron 53,.,. 0.528302,.,. SRBD1/intron/;SRBD1/non_coding/ 0.0000 0.7216 0.8720 4 dominant HG002 HG002 chr2:45476353:A:C 1,.,. 1.97106e-05 0 3 -1 -1 -1 SRBD1 50_intron 42,.,. 0.5,.,. SRBD1/intron/;SRBD1/non_coding/ 0.0000 0.7216 0.8720 4 dominant HG002 HG002 chr2:45579960:C:T 1,.,. 2.62912e-05 0 4 -1 -1 -1 SRBD1 30_synonymous 44,.,. 0.522727,.,. SRBD1/synonymous/ENST00000263736 0.0000 0.7216 0.8720 4 dominant HG002 HG002 chr2:45803877:C:A 1,.,. 1.97143e-05 0 3 -1 -1 -1 PRKCE 50_intron 42,.,. 0.571429,.,. PRKCE/intron/;PRKCE/non_coding/ 1.0000 0.1830 0.2780 0 dominant HG002 HG002 chr2:45877506:C:T 1,.,. 2.63085e-05 0 4 -1 -1 -1 PRKCE 50_intron 43,.,. 0.44186,.,. PRKCE/intron/;PRKCE/non_coding/ 1.0000 0.1830 0.2780 0 dominant HG002 HG002 chr2:45958169:A:T 1,.,. 2.71625e-05 0 4 -1 -1 -1 PRKCE 50_intron 51,.,. 0.490196,.,. PRKCE/intron/;PRKCE/non_coding/ 1.0000 0.1830 0.2780 0 dominant HG002 HG002 chr2:46061861:T:C 1,.,. -1 -1 -1 -1 -1 -1 PRKCE 50_intron 39,.,. 0.435897,.,. PRKCE/intron/ 1.0000 0.1830 0.2780 0 dominant HG002 HG002 chr2:46286290:G:T 1,.,. 1.97163e-05 0 3 -1 -1 -1 27,.,. 0.444444,.,. dominant HG002 HG002 chr2:46294211:A:G 1,.,. 1.31387e-05 0 2 -1 -1 -1 EPAS1 53_non_coding 26,.,. 0.538462,.,. EPAS1/non_coding/ 1.0000 0.2585 0.3660 0 Erythrocytosis, familial, 4 0.000 dominant HG002 HG002 chr2:46330010:A:C 1,.,. 1.31368e-05 0 2 -1 -1 -1 EPAS1 50_intron 35,.,. 0.485714,.,. EPAS1/non_coding/;EPAS1/intron/ 1.0000 0.2585 0.3660 0 Erythrocytosis, familial, 4 0.000 recessive HG002 HG002 chr2:46356140:C:T 2,.,. -1 -1 -1 0.0262789 4 75 EPAS1 50_intron 37,.,. 1,.,. EPAS1/intron/;EPAS1/non_coding/ 1.0000 0.2585 0.3660 0 Erythrocytosis, familial, 4 0.000 dominant HG002 HG002 chr2:46788203:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr2:47070540:G:T 1,.,. 1.97119e-05 0 3 -1 -1 -1 TTC7A 50_intron 31,.,. 0.483871,.,. TTC7A/intron/;TTC7A/non_coding/ 0.0000 1.0187 1.1980 6 Gastrointestinal defects and immunodeficiency syndrome 1 0.000 dominant HG002 HG002 chr2:47217632:C:G 1,.,. 1.97184e-05 0 3 -1 -1 -1 35,.,. 0.485714,.,. recessive HG002 HG002 chr2:47631629:C:T 2,.,. 5.76236e-05 0 7 -1 -1 -1 MSH2 50_intron 31,.,. 1,.,. MSH2/intron/ 0.0000 0.5214 0.6720 2 Lynch syndrome 1;Lynch syndrome;Muir-Torré syndrome;Mismatch repair cancer syndrome 2 0.000 dominant HG002 HG002 chr2:48665417:A:G 1,.,. -1 -1 -1 -1 -1 -1 STON1-GTF2A1L;AC073082.1 50_intron 45,.,. 0.488889,.,. STON1-GTF2A1L/intron/;AC073082.1/intron/ 0.0000 1.1041 1.2950 7 dominant HG002 HG002 chr2:48772686:A:G 1,.,. 1.97068e-05 0 3 -1 -1 -1 STON1-GTF2A1L 50_intron 35,.,. 0.428571,.,. STON1-GTF2A1L/intron/;STON1-GTF2A1L/non_coding/ 0.0000 1.1041 1.2950 7 dominant HG002 HG002 chr2:49139849:C:T 1,.,. 6.57047e-06 0 1 -1 -1 -1 FSHR 50_intron 38,.,. 0.394737,.,. FSHR/intron/ 0.0000 0.8329 1.0710 5 Ovarian hyperstimulation syndrome;Ovarian dysgenesis 1 0.000 dominant HG002 HG002 chr2:49235412:T:A 1,.,. 1.97044e-05 0 3 -1 -1 -1 50,.,. 0.5,.,. dominant HG002 HG002 chr2:49488789:TATGC:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.480769,.,. dominant HG002 HG002 chr2:49544500:C:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.509804,.,. dominant HG002 HG002 chr2:50204364:G:T 1,.,. 3.72523e-05 0 3 -1 -1 -1 NRXN1 50_intron 42,.,. 0.690476,.,. NRXN1/intron/;NRXN1/non_coding/ 1.0000 0.2323 0.3170 0 Chromosome 2p16.3 deletion syndrome;Pitt-Hopkins-like syndrome 2 0.000 dominant HG002 HG002 chr2:50278316:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 NRXN1 50_intron 41,.,. 0.341463,.,. NRXN1/intron/;NRXN1/non_coding/ 1.0000 0.2323 0.3170 0 Chromosome 2p16.3 deletion syndrome;Pitt-Hopkins-like syndrome 2 0.000 recessive HG002 HG002 chr2:50334192:A:AATTATAT 2,.,. -1 -1 -1 0.00911002 0 26 NRXN1 50_intron 30,.,. 1,.,. NRXN1/intron/;NRXN1/non_coding/ 1.0000 0.2323 0.3170 0 Chromosome 2p16.3 deletion syndrome;Pitt-Hopkins-like syndrome 2 0.000 dominant HG002 HG002 chr2:50453846:T:C 1,.,. 1.97161e-05 0 3 -1 -1 -1 NRXN1 50_intron 44,.,. 0.681818,.,. NRXN1/intron/;NRXN1/non_coding/ 1.0000 0.2323 0.3170 0 Chromosome 2p16.3 deletion syndrome;Pitt-Hopkins-like syndrome 2 0.000 dominant HG002 HG002 chr2:50683646:A:ATAT 1,.,. 0.000268276 0 4 -1 -1 -1 NRXN1 50_intron 31,.,. 0.548387,.,. NRXN1/intron/;NRXN1/non_coding/ 1.0000 0.2323 0.3170 0 Chromosome 2p16.3 deletion syndrome;Pitt-Hopkins-like syndrome 2 0.000 dominant HG002 HG002 chr2:50998784:C:A 1,.,. -1 -1 -1 -1 -1 -1 NRXN1 50_intron 44,.,. 0.386364,.,. NRXN1/intron/ 1.0000 0.2323 0.3170 0 Chromosome 2p16.3 deletion syndrome;Pitt-Hopkins-like syndrome 2 0.000 dominant HG002 HG002 chr2:52133801:T:TTCCC 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.509804,.,. dominant HG002 HG002 chr2:52239537:A:AAAC 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr2:52239539:C:G 1,.,. 6.64726e-06 0 1 -1 -1 -1 46,.,. 0.586957,.,. dominant HG002 HG002 chr2:52544103:T:G 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.442308,.,. dominant HG002 HG002 chr2:53315827:G:C 1,.,. 2.20692e-05 0 1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr2:53315828:A:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr2:53315829:A:C 1,.,. 2.59081e-05 0 3 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr2:53315830:G:A 1,.,. 2.10252e-05 0 1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr2:53564105:C:CCA 1,.,. -1 -1 -1 -1 -1 -1 ASB3 50_intron 37,.,. 0.459459,.,. ASB3/intron/ 0.0000 0.7761 0.9980 5 dominant HG002 HG002 chr2:53564106:A:T 1,.,. -1 -1 -1 -1 -1 -1 ASB3 50_intron 37,.,. 0.459459,.,. ASB3/intron/ 0.0000 0.7761 0.9980 5 recessive HG002 HG002 chr2:54095975:T:C 2,.,. -1 -1 -1 -1 -1 -1 ACYP2 50_intron 39,.,. 1,.,. ACYP2/intron/ 0.0670 0.7674 1.7280 8 dominant HG002 HG002 chr2:54218582:CT:C 1,.,. -1 -1 -1 -1 -1 -1 ACYP2 50_intron 38,.,. 0.605263,.,. ACYP2/intron/ 0.0670 0.7674 1.7280 8 dominant HG002 HG002 chr2:54239922:T:TGAGAATTTTAG 1,.,. -1 -1 -1 -1 -1 -1 ACYP2 50_intron 38,.,. 0.447368,.,. ACYP2/intron/ 0.0670 0.7674 1.7280 8 dominant HG002 HG002 chr2:54239928:G:T 1,.,. -1 -1 -1 -1 -1 -1 ACYP2 50_intron 38,.,. 0.447368,.,. ACYP2/intron/ 0.0670 0.7674 1.7280 8 recessive HG002 HG002 chr2:54375885:G:T 2,.,. 0.000579097 0 87 0.000700771 0 2 C2orf73 50_intron 33,.,. 1,.,. C2orf73/intron/;C2orf73/non_coding/ 0.0000 1.4048 1.8880 9 dominant HG002 HG002 chr2:54721353:G:A 1,.,. 1.97332e-05 0 3 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr2:55149561:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr2:55704504:C:T 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.478261,.,. dominant HG002 HG002 chr2:56021671:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr2:56124858:ACT:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr2:56124861:C:T 1,.,. 1.87463e-05 0 1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr2:56173263:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.608696,.,. dominant HG002 HG002 chr2:56485420:A:AT 1,.,. 6.59048e-06 0 1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr2:56681504:T:G 1,.,. 6.56694e-06 0 1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr2:56889635:TTCTG:T 1,.,. 0.00034153 0 2 -1 -1 -1 55,.,. 0.454545,.,. dominant HG002 HG002 chr2:56889641:G:T 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.454545,.,. dominant HG002 HG002 chr2:57293146:GA:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr2:57293149:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr2:57293153:A:ATT 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr2:57293154:C:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr2:57356253:T:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.367347,.,. dominant HG002 HG002 chr2:57356255:T:A 1,.,. 7.55515e-06 0 1 -1 -1 -1 49,.,. 0.367347,.,. dominant HG002 HG002 chr2:57361603:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr2:57395509:T:C 1,.,. 2.62802e-05 0 4 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr2:57512280:G:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.574468,.,. dominant HG002 HG002 chr2:57665784:AGGAAGCAAC:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr2:57665794:A:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr2:57669215:TATATA:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr2:57799293:T:C 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.5,.,. dominant HG002 HG002 chr2:57926997:C:CGTGT 1,.,. -1 -1 -1 -1 -1 -1 VRK2 50_intron 51,.,. 0.529412,.,. VRK2/intron/;VRK2/non_coding/ 0.0000 0.8648 1.1380 6 dominant HG002 HG002 chr2:58315157:G:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.368421,.,. dominant HG002 HG002 chr2:58627485:T:TGTGCGC 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr2:58713531:C:G 1,.,. 6.57635e-06 0 1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr2:59235971:G:A 1,.,. 6.57358e-06 0 1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr2:59405172:CA:C 1,.,. 1.32368e-05 0 2 -1 -1 -1 45,.,. 0.6,.,. dominant HG002 HG002 chr2:59559482:G:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.461538,.,. dominant HG002 HG002 chr2:59625117:T:A 1,.,. 1.31784e-05 0 2 -1 -1 -1 43,.,. 0.511628,.,. recessive HG002 HG002 chr2:59661876:C:A 2,.,. 0.0014844 0 226 0.00105116 0 3 46,.,. 1,.,. recessive HG002 HG002 chr2:59669386:G:T 2,.,. 0.000295749 0 45 0.000700771 0 2 36,.,. 1,.,. recessive HG002 HG002 chr2:59719846:G:A 2,.,. 0.00155096 0 236 0.00105116 0 3 43,.,. 1,.,. recessive HG002 HG002 chr2:59800438:T:C 2,.,. 0.00162176 0 247 0.00140154 0 4 38,.,. 1,.,. recessive HG002 HG002 chr2:59918090:C:T 2,.,. 0.00162888 0 248 0.00140154 0 4 46,.,. 1,.,. recessive HG002 HG002 chr2:60011132:T:A 2,.,. 0.00215947 2 329 0.00175193 0 5 39,.,. 1,.,. recessive HG002 HG002 chr2:60012953:T:C 2,.,. 0.00111029 1 169 0.00105116 0 3 40,.,. 1,.,. dominant HG002 HG002 chr2:60310352:CCTCCATGGGGCTGG:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr2:60310367:A:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr2:60749238:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr2:60749239:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr2:60749240:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr2:61189483:ATTG:A 1,.,. 6.6226e-06 0 1 -1 -1 -1 AHSA2P;USP34 50_intron 32,.,. 0.46875,.,. AHSA2P/non_coding/;USP34/intron/;USP34/non_coding/ 1.0000 0.1187 0.1520 0 dominant HG002 HG002 chr2:61189487:A:G 1,.,. -1 -1 -1 -1 -1 -1 AHSA2P;USP34 50_intron 32,.,. 0.46875,.,. AHSA2P/non_coding/;USP34/intron/;USP34/non_coding/ 1.0000 0.1187 0.1520 0 dominant HG002 HG002 chr2:61311478:G:GAAAAAGAAA 1,.,. -1 -1 -1 -1 -1 -1 USP34 50_intron 43,.,. 0.348837,.,. USP34/intron/ 1.0000 0.1187 0.1520 0 dominant HG002 HG002 chr2:61521532:C:G 1,.,. 2.62888e-05 0 4 -1 -1 -1 XPO1 50_intron 31,.,. 0.387097,.,. XPO1/intron/;XPO1/non_coding/ 1.0000 0.0393 0.0830 0 dominant HG002 HG002 chr2:61541115:T:C 1,.,. 2.75349e-05 0 4 -1 -1 -1 23,.,. 0.391304,.,. dominant HG002 HG002 chr2:61600226:T:A 1,.,. 2.63151e-05 0 4 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr2:61623588:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr2:62459742:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. recessive HG002 HG002 chr2:62508556:CGTCTTTTAAT:C 2,.,. -1 -1 -1 -1 -1 -1 TMEM17 53_non_coding 37,.,. 1,.,. TMEM17/non_coding/ 0.0061 0.7184 1.2950 7 recessive HG002 HG002 chr2:62508568:A:G 2,.,. -1 -1 -1 -1 -1 -1 TMEM17 53_non_coding 37,.,. 1,.,. TMEM17/non_coding/ 0.0061 0.7184 1.2950 7 recessive HG002 HG002 chr2:62508569:T:A 2,.,. -1 -1 -1 -1 -1 -1 TMEM17 53_non_coding 37,.,. 1,.,. TMEM17/non_coding/ 0.0061 0.7184 1.2950 7 dominant HG002 HG002 chr2:62568482:A:ATAT 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.357143,.,. dominant HG002 HG002 chr2:62894923:A:AAGAGAGAGAGAGAG 1,.,. -1 -1 -1 -1 -1 -1 EHBP1 50_intron 34,.,. 0.411765,.,. EHBP1/intron/ 0.0062 0.4388 0.5570 1 Prostate cancer, hereditary, 12 dominant HG002 HG002 chr2:63310693:T:A 1,.,. -1 -1 -1 -1 -1 -1 WDPCP 50_intron 39,.,. 0.461538,.,. WDPCP/intron/ 0.0000 0.7598 0.9390 4 Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome 0.000 dominant HG002 HG002 chr2:63500452:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 WDPCP 50_intron 41,.,. 0.463415,.,. WDPCP/intron/;WDPCP/non_coding/ 0.0000 0.7598 0.9390 4 Bardet-Biedl syndrome 15;Heart defect - tongue hamartoma - polysyndactyly syndrome 0.000 dominant HG002 HG002 chr2:64425479:T:A 1,.,. 2.18637e-05 0 2 -1 -1 -1 37,.,. 0.621622,.,. recessive HG002 HG002 chr2:64512135:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr2:64512136:C:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr2:64512137:A:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr2:64902217:C:CTCTT 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr2:64902624:T:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr2:64987653:C:A 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.590909,.,. dominant HG002 HG002 chr2:64991593:T:G 1,.,. -1 -1 -1 -1 -1 -1 SLC1A4 50_intron 25,.,. 0.36,.,. SLC1A4/non_coding/;SLC1A4/intron/ 0.0039 0.5302 0.7950 3 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0.000 dominant HG002 HG002 chr2:65022571:C:CTGTGG 1,.,. -1 -1 -1 -1 -1 -1 SLC1A4 36_3_prime_utr 26,.,. 0.461538,.,. SLC1A4/3_prime_utr/ENST00000234256 0.0039 0.5302 0.7950 3 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0.000 dominant HG002 HG002 chr2:65022572:C:A 1,.,. -1 -1 -1 -1 -1 -1 SLC1A4 36_3_prime_utr 26,.,. 0.461538,.,. SLC1A4/3_prime_utr/ENST00000234256 0.0039 0.5302 0.7950 3 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0.000 dominant HG002 HG002 chr2:65022573:A:G 1,.,. -1 -1 -1 -1 -1 -1 SLC1A4 36_3_prime_utr 26,.,. 0.461538,.,. SLC1A4/3_prime_utr/ENST00000234256 0.0039 0.5302 0.7950 3 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0.000 dominant HG002 HG002 chr2:65160941:A:T 1,.,. 1.87617e-05 0 1 -1 -1 -1 31,.,. 0.258065,.,. dominant HG002 HG002 chr2:65369653:A:ATAC 1,.,. -1 -1 -1 -1 -1 -1 SPRED2 50_intron 39,.,. 0.538462,.,. SPRED2/intron/ 0.0000 1.0519 1.3610 7 Noonan syndrome 14 0.000 dominant HG002 HG002 chr2:65369654:C:T 1,.,. -1 -1 -1 -1 -1 -1 SPRED2 50_intron 40,.,. 0.525,.,. SPRED2/intron/ 0.0000 1.0519 1.3610 7 Noonan syndrome 14 0.000 recessive HG002 HG002 chr2:65568213:T:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr2:65699377:C:T 1,.,. 1.96969e-05 0 3 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr2:65720747:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.613636,.,. dominant HG002 HG002 chr2:67713760:C:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr2:68258094:G:A 1,.,. 1.32186e-05 0 2 -1 -1 -1 AC017083.3 50_intron 41,.,. 0.414634,.,. AC017083.3/intron/ dominant HG002 HG002 chr2:68451019:A:AT 1,.,. -1 -1 -1 0.00105116 0 3 34,.,. 0.294118,.,. dominant HG002 HG002 chr2:68750630:T:C 1,.,. -1 -1 -1 -1 -1 -1 ARHGAP25 50_intron 52,.,. 0.403846,.,. ARHGAP25/intron/;ARHGAP25/non_coding/ 0.0017 0.4708 0.6270 2 recessive HG002 HG002 chr2:68810729:C:T 2,.,. -1 -1 -1 0.00105116 0 3 ARHGAP25 50_intron 30,.,. 1,.,. ARHGAP25/intron/;ARHGAP25/non_coding/ 0.0017 0.4708 0.6270 2 dominant HG002 HG002 chr2:69423255:T:A 1,.,. 7.54091e-05 0 2 -1 -1 -1 NFU1 50_intron 29,.,. 0.517241,.,. NFU1/intron/;NFU1/non_coding/ 0.0001 0.9596 1.5440 8 Multiple mitochondrial dysfunctions syndrome 1;Spastic paraplegia 93, autosomal recessive 0.000 dominant HG002 HG002 chr2:69510126:T:C 1,.,. 1.97125e-05 0 3 -1 -1 -1 AAK1 50_intron 49,.,. 0.591837,.,. AAK1/intron/ 1.0000 0.2961 0.4060 1 dominant HG002 HG002 chr2:69922630:A:G 1,.,. 1.31404e-05 0 2 -1 -1 -1 MXD1 50_intron 33,.,. 0.393939,.,. MXD1/intron/ 0.6570 0.3330 0.7000 2 dominant HG002 HG002 chr2:70336260:G:A 1,.,. 6.5697e-06 0 1 -1 -1 -1 30,.,. 0.366667,.,. dominant HG002 HG002 chr2:70551071:A:AATG 1,.,. -1 -1 -1 -1 -1 -1 TGFA 50_intron 28,.,. 0.5,.,. TGFA/intron/;TGFA/non_coding/ 0.0033 0.6146 0.9960 5 0.000 dominant HG002 HG002 chr2:70551073:C:T 1,.,. -1 -1 -1 -1 -1 -1 TGFA 50_intron 27,.,. 0.518519,.,. TGFA/intron/;TGFA/non_coding/ 0.0033 0.6146 0.9960 5 0.000 dominant HG002 HG002 chr2:70551074:A:G 1,.,. -1 -1 -1 -1 -1 -1 TGFA 50_intron 28,.,. 0.535714,.,. TGFA/intron/;TGFA/non_coding/ 0.0033 0.6146 0.9960 5 0.000 recessive HG002 HG002 chr2:70646873:GAAGCC:G 2,.,. -1 -1 -1 -1 -1 -1 ADD2 50_intron 29,.,. 1,.,. ADD2/intron/ 1.0000 0.2737 0.3880 0 dominant HG002 HG002 chr2:71342082:T:G 1,.,. -1 -1 -1 -1 -1 -1 ZNF638 50_intron 41,.,. 0.414634,.,. ZNF638/intron/;ZNF638/non_coding/ 1.0000 0.1813 0.2490 0 dominant HG002 HG002 chr2:71745102:A:G 1,.,. 6.59448e-06 0 1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr2:72177664:C:CTTGA 1,.,. -1 -1 -1 -1 -1 -1 EXOC6B 36_3_prime_utr 32,.,. 0.625,.,. EXOC6B/3_prime_utr/ENST00000272427 0.0000 0.5334 0.6880 2 Spondyloepimetaphyseal dysplasia with joint laxity, type 3 0.000 dominant HG002 HG002 chr2:72177667:T:G 1,.,. -1 -1 -1 -1 -1 -1 EXOC6B 36_3_prime_utr 31,.,. 0.645161,.,. EXOC6B/3_prime_utr/ENST00000272427 0.0000 0.5334 0.6880 2 Spondyloepimetaphyseal dysplasia with joint laxity, type 3 0.000 dominant HG002 HG002 chr2:72346992:T:C 1,.,. 1.97114e-05 0 3 -1 -1 -1 EXOC6B 50_intron 55,.,. 0.381818,.,. EXOC6B/intron/;EXOC6B/non_coding/ 0.0000 0.5334 0.6880 2 Spondyloepimetaphyseal dysplasia with joint laxity, type 3 0.000 recessive HG002 HG002 chr2:73712985:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr2:73901533:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC:T 1,.,. 1.51181e-05 0 1 -1 -1 -1 ACTG2 50_intron 23,.,. 0.652174,.,. ACTG2/intron/;ACTG2/non_coding/ 0.2817 0.4119 0.6260 2 Visceral myopathy 1;Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 0.000 dominant HG002 HG002 chr2:73902037:G:GTGTGTGTGTGTC 1,.,. -1 -1 -1 -1 -1 -1 ACTG2 50_intron 24,.,. 0.416667,.,. ACTG2/intron/;ACTG2/non_coding/ 0.2817 0.4119 0.6260 2 Visceral myopathy 1;Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 0.000 dominant HG002 HG002 chr2:73925641:G:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.48,.,. dominant HG002 HG002 chr2:74144515:G:A 1,.,. -1 -1 -1 -1 -1 -1 BOLA3 50_intron 38,.,. 0.473684,.,. BOLA3/intron/;BOLA3/non_coding/ 0.0026 0.9648 1.7120 8 Multiple mitochondrial dysfunctions syndrome 2 0.000 dominant HG002 HG002 chr2:76331762:A:ATAT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.351351,.,. dominant HG002 HG002 chr2:77373084:A:AATATATATAT 1,.,. -1 -1 -1 -1 -1 -1 LRRTM4 50_intron 55,.,. 0.436364,.,. LRRTM4/intron/ 0.0020 0.4964 0.6930 2 dominant HG002 HG002 chr2:78080303:T:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. recessive HG002 HG002 chr2:78664886:T:C 2,.,. -1 -1 -1 0.00105116 0 3 39,.,. 1,.,. dominant HG002 HG002 chr2:78691838:C:CTCTG 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr2:79026879:A:C 1,.,. -1 -1 -1 -1 -1 -1 REG3G 50_intron 52,.,. 0.653846,.,. REG3G/intron/;REG3G/non_coding/ 0.0000 0.9719 1.4120 7 dominant HG002 HG002 chr2:79046914:T:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr2:79053738:G:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr2:79853580:G:T 1,.,. 2.633e-05 0 4 -1 -1 -1 CTNNA2 50_intron 33,.,. 0.515152,.,. CTNNA2/intron/ 0.9755 0.3671 0.4910 1 Cortical dysplasia, complex, with other brain malformations 9 0.000 dominant HG002 HG002 chr2:79916565:C:CCCTCT 1,.,. -1 -1 -1 -1 -1 -1 CTNNA2 50_intron 28,.,. 0.5,.,. CTNNA2/intron/ 0.9755 0.3671 0.4910 1 Cortical dysplasia, complex, with other brain malformations 9 0.000 recessive HG002 HG002 chr2:80831572:C:A 2,.,. 3.24507e-05 0 2 0.00210231 0 6 52,.,. 0.980769,.,. dominant HG002 HG002 chr2:81213209:C:CTCG 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr2:81213211:T:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr2:81459512:A:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. recessive HG002 HG002 chr2:81869615:GAATCTTACAAA:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr2:81869632:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr2:82111086:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr2:82187705:T:C 1,.,. -1 -1 -1 0.000700771 0 2 40,.,. 0.45,.,. dominant HG002 HG002 chr2:82319522:T:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.651163,.,. dominant HG002 HG002 chr2:82514902:A:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr2:82538120:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.372093,.,. dominant HG002 HG002 chr2:83574558:A:T 1,.,. 1.31537e-05 0 2 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr2:84197455:T:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr2:84197457:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr2:86914418:GGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC:G 1,.,. 0.000203335 0 2 -1 -1 -1 RGPD1 50_intron 34,.,. 0.558824,.,. RGPD1/intron/ 0.0066 0.7829 1.4580 8 dominant HG002 HG002 chr2:86914591:C:G 1,.,. -1 -1 -1 -1 -1 -1 RGPD1 50_intron 32,.,. 0.4375,.,. RGPD1/intron/ 0.0066 0.7829 1.4580 8 dominant HG002 HG002 chr2:86914747:G:T 1,.,. -1 -1 -1 -1 -1 -1 RGPD1 50_intron 32,.,. 0.46875,.,. RGPD1/intron/ 0.0066 0.7829 1.4580 8 dominant HG002 HG002 chr2:87134276:C:T 1,.,. -1 -1 -1 -1 -1 -1 AC083899.1 53_non_coding 41,.,. 0.487805,.,. AC083899.1/non_coding/ recessive HG002 HG002 chr2:87422834:T:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chr2:87701618:G:C 1,.,. -1 -1 -1 -1 -1 -1 ANAPC1P4 53_non_coding 45,.,. 0.444444,.,. ANAPC1P4/non_coding/ recessive HG002 HG002 chr2:88484421:G:C 2,.,. 2.00594e-05 0 1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr2:88484422:T:A 2,.,. 6.58805e-06 0 1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr2:88484423:AAGC:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr2:88530576:C:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chr2:89235380:C:T 1,.,. -1 -1 -1 0.00105116 0 3 27,.,. 0.666667,.,. recessive HG002 HG002 chr2:89626053:AAAACTATTTTTAAAACT:A 2,.,. -1 -1 -1 -1 -1 -1 AC006453.1 53_non_coding 100,.,. 0.98,.,. AC006453.1/non_coding/ dominant HG002 HG002 chr2:89836002:A:AGGAATGGAAT 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr2:89871308:GAAGTCTCACTCTATGAT:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr2:89871328:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr2:90023412:T:C 1,.,. -1 -1 -1 0.00105116 0 3 42,.,. 0.47619,.,. recessive HG002 HG002 chr2:90159826:T:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr2:90161421:C:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr2:90325526:C:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr2:90325540:C:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr2:92262091:T:C 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 0.986239,.,. recessive HG002 HG002 chr2:92279093:G:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr2:92279095:A:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr2:92279935:G:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr2:92362390:C:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr2:92362415:A:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr2:92362458:T:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr2:92362481:T:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr2:92362507:T:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr2:92408751:C:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr2:92408761:C:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr2:92408764:A:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr2:92408776:A:C 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr2:92408777:T:C 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr2:92408789:A:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr2:92408797:A:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.990654,.,. recessive HG002 HG002 chr2:92441300:A:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr2:92484019:T:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr2:92484030:A:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr2:92484034:G:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr2:92484042:C:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr2:92484047:G:C 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr2:92540249:C:G 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr2:92584943:T:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr2:92604170:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr2:92604214:A:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr2:92604334:G:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr2:92604381:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr2:92604420:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr2:92604435:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr2:92604442:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr2:92604453:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr2:92604486:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr2:92604491:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr2:92630840:T:A 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr2:92630877:A:G 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr2:92658279:A:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr2:92744678:T:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr2:92767715:C:G 2,.,. -1 -1 -1 0.00280308 4 8 7,.,. 1,.,. recessive HG002 HG002 chr2:92768562:C:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr2:92771131:T:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr2:92774446:C:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr2:92776209:A:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr2:92793245:C:A 2,.,. -1 -1 -1 0.00385424 3 11 21,.,. 1,.,. recessive HG002 HG002 chr2:92803614:G:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr2:92805856:A:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr2:92806128:T:G 2,.,. -1 -1 -1 0.00385424 4 11 14,.,. 1,.,. recessive HG002 HG002 chr2:92806218:A:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr2:92807365:A:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr2:92969847:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr2:93023209:A:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr2:93026979:G:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr2:93026998:A:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr2:93033255:A:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr2:93033263:A:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr2:93034826:A:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr2:93035095:C:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr2:93035183:C:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr2:93166734:T:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr2:93166735:T:A 2,.,. -1 -1 -1 0.00140154 2 4 7,.,. 1,.,. recessive HG002 HG002 chr2:93168406:C:A 2,.,. -1 -1 -1 0.00280308 4 8 8,.,. 1,.,. recessive HG002 HG002 chr2:93168408:T:A 2,.,. -1 -1 -1 0.00280308 4 8 9,.,. 1,.,. recessive HG002 HG002 chr2:93173259:A:G 2,.,. -1 -1 -1 0.00140154 2 4 7,.,. 1,.,. recessive HG002 HG002 chr2:93174376:T:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr2:93174706:A:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr2:93174855:G:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr2:93175722:C:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr2:93177258:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr2:93177682:A:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr2:93177935:T:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr2:93177936:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr2:93178013:T:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr2:93215149:T:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr2:93224190:T:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr2:93231975:T:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr2:93232004:T:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr2:93232382:A:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr2:93233190:T:C 2,.,. -1 -1 -1 0.00175193 1 5 8,.,. 1,.,. recessive HG002 HG002 chr2:93671123:C:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr2:93673234:T:A 2,.,. -1 -1 -1 0.0262789 3 75 13,.,. 1,.,. recessive HG002 HG002 chr2:93673544:G:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr2:93673554:G:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr2:93676093:A:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr2:93680486:G:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr2:93680669:C:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr2:93900483:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr2:93900558:C:T 2,.,. -1 -1 -1 0.00210231 3 6 8,.,. 1,.,. recessive HG002 HG002 chr2:93900796:G:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr2:93901333:A:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr2:93901388:A:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr2:93901412:A:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr2:93901459:A:T 2,.,. -1 -1 -1 0.00175193 2 5 9,.,. 1,.,. recessive HG002 HG002 chr2:93901486:A:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr2:93901535:T:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr2:93901981:G:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr2:93902044:G:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr2:93902577:G:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr2:93902676:A:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr2:93902731:G:T 2,.,. -1 -1 -1 0.0024527 1 7 10,.,. 1,.,. recessive HG002 HG002 chr2:93902805:A:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr2:93903008:G:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr2:93903270:G:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr2:93903337:G:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr2:93905467:C:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr2:94284616:G:A 2,.,. -1 -1 -1 0.00175193 0 5 71,.,. 1,.,. dominant HG002 HG002 chr2:94940732:T:C 1,.,. -1 -1 -1 -1 -1 -1 AC097374.1 53_non_coding 45,.,. 0.422222,.,. AC097374.1/non_coding/ dominant HG002 HG002 chr2:95854457:G:A 1,.,. -1 -1 -1 -1 -1 -1 ANKRD36C 50_intron 54,.,. 0.5,.,. ANKRD36C/intron/;ANKRD36C/non_coding/ 1.0000 0.2723 0.3400 0 dominant HG002 HG002 chr2:95971295:A:G 1,.,. -1 -1 -1 -1 -1 -1 ANKRD36C 50_intron 41,.,. 0.512195,.,. ANKRD36C/intron/ 1.0000 0.2723 0.3400 0 recessive HG002 HG002 chr2:96021678:CTG:C 2,.,. 1.9923e-05 0 3 -1 -1 -1 FAHD2CP 53_non_coding 15,.,. 1,.,. FAHD2CP/non_coding/ recessive HG002 HG002 chr2:96021681:C:G 2,.,. -1 -1 -1 -1 -1 -1 FAHD2CP 53_non_coding 15,.,. 1,.,. FAHD2CP/non_coding/ dominant HG002 HG002 chr2:96141951:A:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.34375,.,. dominant HG002 HG002 chr2:96368931:A:T 1,.,. 2.62764e-05 0 4 -1 -1 -1 NCAPH 50_intron 35,.,. 0.628571,.,. NCAPH/intron/ 0.1112 0.4216 0.5660 1 Microcephaly 23, primary, autosomal recessive 0.000 dominant HG002 HG002 chr2:96445618:G:GC 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.54,.,. dominant HG002 HG002 chr2:96962445:G:A 1,.,. -1 -1 -1 -1 -1 -1 FAM178B 50_intron 23,.,. 0.565217,.,. FAM178B/intron/ 0.0000 0.9099 1.1150 6 dominant HG002 HG002 chr2:97360660:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr2:97563992:G:GAT 1,.,. 6.04887e-05 0 2 -1 -1 -1 ANKRD36B 50_intron 46,.,. 0.543478,.,. ANKRD36B/intron/ 0.1433 0.4192 0.5690 1 dominant HG002 HG002 chr2:97579645:T:C 1,.,. -1 -1 -1 -1 -1 -1 ANKRD36B 50_intron 48,.,. 0.520833,.,. ANKRD36B/intron/ 0.1433 0.4192 0.5690 1 dominant HG002 HG002 chr2:97579647:G:A 1,.,. -1 -1 -1 -1 -1 -1 ANKRD36B 50_intron 47,.,. 0.531915,.,. ANKRD36B/intron/ 0.1433 0.4192 0.5690 1 dominant HG002 HG002 chr2:98127596:G:C 1,.,. -1 -1 -1 -1 -1 -1 VWA3B 50_intron 33,.,. 0.212121,.,. VWA3B/intron/;VWA3B/non_coding/ 0.0000 0.8594 0.9920 5 Spinocerebellar ataxia, autosomal recessive 22 0.000 dominant HG002 HG002 chr2:98248867:CTTTCTTTCTTTCTT:C 1,.,. 1.33181e-05 0 1 -1 -1 -1 VWA3B 50_intron 51,.,. 0.392157,.,. VWA3B/intron/;VWA3B/non_coding/ 0.0000 0.8594 0.9920 5 Spinocerebellar ataxia, autosomal recessive 22 0.000 dominant HG002 HG002 chr2:98255414:T:TCTGTC 1,.,. -1 -1 -1 -1 -1 -1 VWA3B 50_intron 45,.,. 0.488889,.,. VWA3B/intron/;VWA3B/non_coding/ 0.0000 0.8594 0.9920 5 Spinocerebellar ataxia, autosomal recessive 22 0.000 recessive HG002 HG002 chr2:99279427:T:TTTCTTTTCTATTTTATTTATTTATTTATTTATTA 2,.,. -1 -1 -1 -1 -1 -1 AC079447.1 50_intron 37,.,. 1,.,. AC079447.1/intron/ dominant HG002 HG002 chr2:99340775:C:CT 1,.,. -1 -1 -1 0.000700771 0 2 EIF5B 50_intron 39,.,. 0.512821,.,. EIF5B/intron/ 1.0000 0.2932 0.3820 0 dominant HG002 HG002 chr2:99733389:AAAACC:A 1,.,. -1 -1 -1 -1 -1 -1 AFF3 50_intron 55,.,. 0.272727,.,. AFF3/intron/ 1.0000 0.2345 0.3180 0 KINSSHIP syndrome 0.000 dominant HG002 HG002 chr2:99885089:T:C 1,.,. -1 -1 -1 -1 -1 -1 AFF3 50_intron 47,.,. 0.446809,.,. AFF3/intron/;AFF3/non_coding/ 1.0000 0.2345 0.3180 0 KINSSHIP syndrome 0.000 dominant HG002 HG002 chr2:100560968:G:A 1,.,. 6.6284e-06 0 1 -1 -1 -1 25,.,. 0.44,.,. recessive HG002 HG002 chr2:100736053:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr2:100912258:T:A 2,.,. -1 -1 -1 -1 -1 -1 NPAS2 50_intron 35,.,. 1,.,. NPAS2/intron/ 1.0000 0.2307 0.3380 0 dominant HG002 HG002 chr2:101058033:G:C 1,.,. -1 -1 -1 -1 -1 -1 TBC1D8 50_intron 39,.,. 0.512821,.,. TBC1D8/intron/ 0.0000 0.5584 0.6890 2 dominant HG002 HG002 chr2:101204964:T:C 1,.,. -1 -1 -1 -1 -1 -1 TBC1D8 53_non_coding 32,.,. 0.65625,.,. TBC1D8/non_coding/ 0.0000 0.5584 0.6890 2 recessive HG002 HG002 chr2:101270532:TATAATAAA:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr2:101431149:A:T 2,.,. -1 -1 -1 -1 -1 -1 RFX8 50_intron 31,.,. 1,.,. RFX8/intron/;RFX8/non_coding/ 0.0000 0.7948 1.1100 6 dominant HG002 HG002 chr2:101453282:AAAATAAAT:A 1,.,. -1 -1 -1 -1 -1 -1 RFX8 50_intron 36,.,. 0.388889,.,. RFX8/intron/ 0.0000 0.7948 1.1100 6 recessive HG002 HG002 chr2:101453294:T:A 2,.,. -1 -1 -1 -1 -1 -1 RFX8 50_intron 34,.,. 1,.,. RFX8/intron/ 0.0000 0.7948 1.1100 6 recessive HG002 HG002 chr2:101622520:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chr2:101864144:A:G 1,.,. -1 -1 -1 -1 -1 -1 MAP4K4 50_intron 37,.,. 0.567568,.,. MAP4K4/intron/ 1.0000 0.2290 0.3080 0 dominant HG002 HG002 chr2:102568753:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr2:102992793:A:AAATT 1,.,. 3.67809e-05 0 4 -1 -1 -1 TMEM182 50_intron 36,.,. 0.583333,.,. TMEM182/intron/ 0.0000 0.7513 1.0920 5 dominant HG002 HG002 chr2:103362191:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr2:103874130:G:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr2:104087461:G:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr2:104087463:A:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. recessive HG002 HG002 chr2:104763473:C:CTCTA 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr2:104763477:C:A 2,.,. 0.00270079 1 335 0.00175193 0 5 52,.,. 1,.,. dominant HG002 HG002 chr2:104955051:G:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.46,.,. dominant HG002 HG002 chr2:105058725:C:G 1,.,. -1 -1 -1 -1 -1 -1 MRPS9 50_intron 43,.,. 0.465116,.,. MRPS9/intron/ 0.0000 0.9244 1.2600 7 recessive HG002 HG002 chr2:105191649:A:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr2:105202389:G:GGA 1,.,. -1 -1 -1 -1 -1 -1 14,.,. 0.714286,.,. dominant HG002 HG002 chr2:105202389:G:GGAGAGA 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.764706,.,. dominant HG002 HG002 chr2:105236369:G:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr2:105397885:T:TTTTG 1,.,. -1 -1 -1 -1 -1 -1 FHL2 50_intron 39,.,. 0.333333,.,. FHL2/intron/ 0.0003 0.5805 0.8440 3 0.000 dominant HG002 HG002 chr2:106022079:T:TGTC 1,.,. 1.39521e-05 0 1 -1 -1 -1 43,.,. 0.395349,.,. dominant HG002 HG002 chr2:106022083:C:T 1,.,. 6.59491e-06 0 1 -1 -1 -1 43,.,. 0.395349,.,. dominant HG002 HG002 chr2:106316540:T:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr2:106316592:T:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr2:106357533:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr2:106357536:A:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. recessive HG002 HG002 chr2:106381456:TATAAC:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr2:106467286:G:A 1,.,. -1 -1 -1 -1 -1 -1 RGPD3 50_intron 44,.,. 0.522727,.,. RGPD3/intron/ 0.0000 0.6221 0.7760 3 dominant HG002 HG002 chr2:106467287:C:T 1,.,. -1 -1 -1 -1 -1 -1 RGPD3 50_intron 44,.,. 0.522727,.,. RGPD3/intron/ 0.0000 0.6221 0.7760 3 dominant HG002 HG002 chr2:106467319:C:T 1,.,. -1 -1 -1 -1 -1 -1 RGPD3 50_intron 44,.,. 0.522727,.,. RGPD3/intron/ 0.0000 0.6221 0.7760 3 dominant HG002 HG002 chr2:106467402:G:A 1,.,. -1 -1 -1 -1 -1 -1 RGPD3 50_intron 44,.,. 0.522727,.,. RGPD3/intron/ 0.0000 0.6221 0.7760 3 dominant HG002 HG002 chr2:106508929:ATG:A 1,.,. 2.63571e-05 0 4 -1 -1 -1 CD8B2 36_3_prime_utr 37,.,. 0.621622,.,. CD8B2/3_prime_utr/ENST00000643224 0.0018 0.7360 1.2480 7 dominant HG002 HG002 chr2:106508933:C:CAATTA 1,.,. -1 -1 -1 -1 -1 -1 CD8B2 36_3_prime_utr 37,.,. 0.621622,.,. CD8B2/3_prime_utr/ENST00000643224 0.0018 0.7360 1.2480 7 dominant HG002 HG002 chr2:106508934:C:A 1,.,. -1 -1 -1 -1 -1 -1 CD8B2 36_3_prime_utr 37,.,. 0.621622,.,. CD8B2/3_prime_utr/ENST00000643224 0.0018 0.7360 1.2480 7 dominant HG002 HG002 chr2:106508936:G:T 1,.,. -1 -1 -1 -1 -1 -1 CD8B2 36_3_prime_utr 37,.,. 0.621622,.,. CD8B2/3_prime_utr/ENST00000643224 0.0018 0.7360 1.2480 7 dominant HG002 HG002 chr2:106508937:C:G 1,.,. -1 -1 -1 -1 -1 -1 CD8B2 36_3_prime_utr 37,.,. 0.621622,.,. CD8B2/3_prime_utr/ENST00000643224 0.0018 0.7360 1.2480 7 recessive HG002 HG002 chr2:106758300:T:C 2,.,. 4.77806e-05 0 6 0.0217239 0 62 35,.,. 1,.,. dominant HG002 HG002 chr2:107505284:T:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr2:107829186:C:G 1,.,. -1 -1 -1 -1 -1 -1 RGPD4 50_intron 23,.,. 0.478261,.,. RGPD4/intron/ 0.0000 1.0096 1.2230 6 dominant HG002 HG002 chr2:107877314:G:C 1,.,. -1 -1 -1 -1 -1 -1 RGPD4 50_intron 45,.,. 0.577778,.,. RGPD4/intron/ 0.0000 1.0096 1.2230 6 recessive HG002 HG002 chr2:108236183:C:T 2,.,. 0.00210225 3 320 0.00175193 0 5 39,.,. 1,.,. dominant HG002 HG002 chr2:108336597:A:G 1,.,. -1 -1 -1 -1 -1 -1 SULT1C2P1 53_non_coding 32,.,. 0.59375,.,. SULT1C2P1/non_coding/ recessive HG002 HG002 chr2:108508469:G:C 2,.,. -1 -1 -1 -1 -1 -1 GCC2 36_3_prime_utr 37,.,. 1,.,. GCC2/3_prime_utr&NMD_transcript/ENST00000482325;GCC2/3_prime_utr/ENST00000309863 0.0000 0.5033 0.6260 2 dominant HG002 HG002 chr2:108521719:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.333333,.,. recessive HG002 HG002 chr2:108600906:C:T 2,.,. -1 -1 -1 -1 -1 -1 LIMS1 50_intron 42,.,. 1,.,. LIMS1/intron/ 0.0141 0.5351 0.8670 4 dominant HG002 HG002 chr2:108950226:TTCCTCCCTCCC:T 1,.,. -1 -1 -1 -1 -1 -1 EDAR 50_intron 28,.,. 0.464286,.,. EDAR/intron/ 0.0000 0.7069 0.9270 4 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;HAIR MORPHOLOGY 1 0.000 dominant HG002 HG002 chr2:109078088:A:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.323529,.,. dominant HG002 HG002 chr2:109199834:G:A 1,.,. -1 -1 -1 -1 -1 -1 SH3RF3 50_intron 33,.,. 0.545455,.,. SH3RF3/intron/ 0.0009 0.5036 0.6940 2 dominant HG002 HG002 chr2:109571035:T:C 1,.,. -1 -1 -1 -1 -1 -1 SEPTIN10 50_intron 40,.,. 0.55,.,. SEPTIN10/intron/ 0.0000 1.1243 1.4340 7 dominant HG002 HG002 chr2:109571036:T:C 1,.,. -1 -1 -1 -1 -1 -1 SEPTIN10 50_intron 40,.,. 0.55,.,. SEPTIN10/intron/ 0.0000 1.1243 1.4340 7 recessive HG002 HG002 chr2:109668351:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr2:110026609:T:G 2,.,. -1 -1 -1 -1 -1 -1 AC013268.4 53_non_coding 9,.,. 1,.,. AC013268.4/non_coding/ recessive HG002 HG002 chr2:110207619:GTGTTGGC:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr2:110207627:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. dominant HG002 HG002 chr2:110610176:C:T 1,.,. -1 -1 -1 0.00140154 0 4 26,.,. 0.538462,.,. dominant HG002 HG002 chr2:110613795:C:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr2:110998289:C:G 1,.,. 1.97221e-05 0 3 -1 -1 -1 ACOXL 50_intron 46,.,. 0.521739,.,. ACOXL/intron/;ACOXL/non_coding/ 0.0000 1.0111 1.2390 7 recessive HG002 HG002 chr2:111013859:G:C 2,.,. -1 -1 -1 -1 -1 -1 ACOXL 50_intron 41,.,. 1,.,. ACOXL/intron/;ACOXL/non_coding/ 0.0000 1.0111 1.2390 7 dominant HG002 HG002 chr2:111493135:C:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. recessive HG002 HG002 chr2:111574159:C:A 2,.,. -1 -1 -1 0.00840925 2 24 33,.,. 1,.,. dominant HG002 HG002 chr2:111813369:CATGGGAACCACCATCCTT:C 1,.,. -1 -1 -1 -1 -1 -1 ANAPC1 50_intron 41,.,. 0.463415,.,. ANAPC1/intron/;ANAPC1/non_coding/ 1.0000 0.1966 0.2730 0 Rothmund-Thomson syndrome type 1 0.000 dominant HG002 HG002 chr2:112126111:C:CAAATA 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr2:112126114:T:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr2:112138839:T:C 1,.,. -1 -1 -1 -1 -1 -1 FBLN7 50_intron 29,.,. 0.482759,.,. FBLN7/intron/ 0.0000 0.7659 1.0340 5 dominant HG002 HG002 chr2:112139751:T:C 1,.,. 0.000345961 0 4 -1 -1 -1 FBLN7 50_intron 33,.,. 0.515152,.,. FBLN7/intron/ 0.0000 0.7659 1.0340 5 dominant HG002 HG002 chr2:112364097:T:C 1,.,. -1 -1 -1 0.00140154 0 4 36,.,. 0.444444,.,. dominant HG002 HG002 chr2:112504397:C:G 1,.,. -1 -1 -1 0.000700771 0 2 TTL 50_intron 26,.,. 0.461538,.,. TTL/intron/;TTL/non_coding/ 0.9991 0.2495 0.4230 1 recessive HG002 HG002 chr2:112506616:A:C 2,.,. -1 -1 -1 0.0178697 3 51 TTL 50_intron 26,.,. 1,.,. TTL/intron/;TTL/non_coding/ 0.9991 0.2495 0.4230 1 dominant HG002 HG002 chr2:112638780:GTGTGTATATA:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. recessive HG002 HG002 chr2:112660700:T:G 2,.,. -1 -1 -1 -1 -1 -1 SLC20A1 50_intron 35,.,. 1,.,. SLC20A1/intron/;SLC20A1/non_coding/ 0.0111 0.4594 0.6340 2 dominant HG002 HG002 chr2:113017625:GGAAGAAGAAGAA:G 1,.,. 6.51763e-05 0 2 -1 -1 -1 50,.,. 0.3,.,. dominant HG002 HG002 chr2:113121135:TTCATCG:T 1,.,. 1.98863e-05 0 3 -1 -1 -1 IL1RN 50_intron 42,.,. 0.595238,.,. IL1RN/intron/;IL1RN/non_coding/ 0.0055 0.8127 1.5070 8 Microvascular complications of diabetes, susceptibility to, 4;Sterile multifocal osteomyelitis with periostitis and pustulosis;Gastric cancer 0.000 dominant HG002 HG002 chr2:113121144:T:G 1,.,. 2.46804e-05 0 1 -1 -1 -1 IL1RN 50_intron 42,.,. 0.595238,.,. IL1RN/intron/;IL1RN/non_coding/ 0.0055 0.8127 1.5070 8 Microvascular complications of diabetes, susceptibility to, 4;Sterile multifocal osteomyelitis with periostitis and pustulosis;Gastric cancer 0.000 dominant HG002 HG002 chr2:113136340:T:A 1,.,. 6.58475e-06 0 1 -1 -1 -1 22,.,. 0.590909,.,. dominant HG002 HG002 chr2:113537579:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.394737,.,. dominant HG002 HG002 chr2:113600855:TGGGC:T 1,.,. -1 -1 -1 -1 -1 -1 DDX11L2 53_non_coding 29,.,. 0.482759,.,. DDX11L2/non_coding/ dominant HG002 HG002 chr2:113600861:C:T 1,.,. -1 -1 -1 -1 -1 -1 DDX11L2 53_non_coding 30,.,. 0.5,.,. DDX11L2/non_coding/ dominant HG002 HG002 chr2:113600862:A:C 1,.,. -1 -1 -1 -1 -1 -1 DDX11L2 53_non_coding 30,.,. 0.5,.,. DDX11L2/non_coding/ dominant HG002 HG002 chr2:113602981:C:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr2:113603058:T:C 1,.,. 4.85139e-05 0 3 -1 -1 -1 26,.,. 0.461538,.,. dominant HG002 HG002 chr2:113606815:TC:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr2:113693148:T:TTTTGTG 1,.,. 1.2944e-05 0 1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr2:114184153:G:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr2:115603568:T:TTTTTTG 1,.,. 1.33693e-05 0 1 -1 -1 -1 DPP10 50_intron 42,.,. 0.333333,.,. DPP10/intron/;DPP10/non_coding/ 1.0000 0.2666 0.3780 0 dominant HG002 HG002 chr2:115836114:TGTGA:T 1,.,. 1.1516e-05 0 1 -1 -1 -1 DPP10 50_intron 45,.,. 0.444444,.,. DPP10/intron/;DPP10/non_coding/ 1.0000 0.2666 0.3780 0 dominant HG002 HG002 chr2:115952844:G:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr2:116302082:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr2:116446335:C:CACAA 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr2:116679425:G:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr2:117042424:A:ATACATAGTATACTATATACTATATAGTATACTCTATTGTAC 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. recessive HG002 HG002 chr2:117060708:A:AGATCT 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr2:117060711:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr2:117152045:G:A 1,.,. 2.63175e-05 0 4 -1 -1 -1 30,.,. 0.433333,.,. recessive HG002 HG002 chr2:117227294:GAATC:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. recessive HG002 HG002 chr2:117227302:A:T 2,.,. 6.44828e-05 0 1 -1 -1 -1 51,.,. 1,.,. dominant HG002 HG002 chr2:117477965:T:TATGAAC 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.634146,.,. dominant HG002 HG002 chr2:117477966:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.642857,.,. dominant HG002 HG002 chr2:118195875:G:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr2:118514684:C:CATAGATAGATACATAG 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr2:118514698:T:C 1,.,. 6.62532e-06 0 1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr2:118690516:G:GGTAT 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr2:118690517:A:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr2:118712333:GGA:G 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.444444,.,. dominant HG002 HG002 chr2:118712337:AG:A 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.52,.,. dominant HG002 HG002 chr2:119145787:T:G 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.583333,.,. recessive HG002 HG002 chr2:119258993:T:A 2,.,. -1 -1 -1 -1 -1 -1 STEAP3 50_intron 25,.,. 1,.,. STEAP3/intron/ 0.0000 0.9686 1.2700 7 Severe congenital hypochromic anemia with ringed sideroblasts 0.000 recessive HG002 HG002 chr2:119258996:A:C 2,.,. -1 -1 -1 -1 -1 -1 STEAP3 50_intron 25,.,. 1,.,. STEAP3/intron/ 0.0000 0.9686 1.2700 7 Severe congenital hypochromic anemia with ringed sideroblasts 0.000 recessive HG002 HG002 chr2:119258997:C:A 2,.,. -1 -1 -1 -1 -1 -1 STEAP3 50_intron 25,.,. 1,.,. STEAP3/intron/ 0.0000 0.9686 1.2700 7 Severe congenital hypochromic anemia with ringed sideroblasts 0.000 dominant HG002 HG002 chr2:119643759:G:C 1,.,. -1 -1 -1 -1 -1 -1 CFAP221 50_intron 41,.,. 0.439024,.,. CFAP221/intron/ 0.0000 0.9121 1.1020 6 0.000 dominant HG002 HG002 chr2:119678658:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr2:120043007:G:T 1,.,. 1.33604e-05 0 1 -1 -1 -1 EPB41L5 50_intron 43,.,. 0.27907,.,. EPB41L5/intron/;EPB41L5/non_coding/ 0.0155 0.4489 0.6090 2 dominant HG002 HG002 chr2:121032550:T:TGGGC 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr2:121089629:A:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. recessive HG002 HG002 chr2:121138878:C:G 2,.,. 0.000132753 0 10 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr2:121300241:C:CCGGACTG 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr2:121300242:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chr2:121300319:C:G 1,.,. -1 -1 -1 0.00140154 1 4 21,.,. 0.428571,.,. dominant HG002 HG002 chr2:121300343:C:T 1,.,. -1 -1 -1 0.00140154 1 4 21,.,. 0.428571,.,. recessive HG002 HG002 chr2:121301589:CCAAATTTTCAG:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr2:121301602:C:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chr2:121433325:G:GA 1,.,. -1 -1 -1 0.00140154 0 4 CLASP1 50_intron 31,.,. 0.354839,.,. CLASP1/intron/ 1.0000 0.1630 0.2370 0 dominant HG002 HG002 chr2:122004470:A:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr2:122404856:C:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. recessive HG002 HG002 chr2:122419455:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr2:122432981:G:GTGTGTGTC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr2:122432981:G:GTGTGTGTGTGTC 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr2:123009589:A:G 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.509091,.,. dominant HG002 HG002 chr2:123073024:T:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr2:123236899:A:AT 1,.,. 1.97681e-05 0 3 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr2:123356703:AATATT:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr2:123396605:C:CACAT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr2:123396611:C:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr2:123486500:CAG:C 1,.,. -1 -1 -1 0.00140154 0 4 43,.,. 0.488372,.,. dominant HG002 HG002 chr2:123848269:C:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.577778,.,. dominant HG002 HG002 chr2:124216437:G:A 1,.,. 1.97981e-05 0 3 -1 -1 -1 CNTNAP5 50_intron 40,.,. 0.4,.,. CNTNAP5/intron/ 0.0000 0.5142 0.6320 2 dominant HG002 HG002 chr2:124392716:A:G 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP5 50_intron 41,.,. 0.560976,.,. CNTNAP5/intron/ 0.0000 0.5142 0.6320 2 recessive HG002 HG002 chr2:124553035:TATTCTATTTCTG:T 2,.,. -1 -1 -1 -1 -1 -1 CNTNAP5 50_intron 40,.,. 1,.,. CNTNAP5/intron/ 0.0000 0.5142 0.6320 2 recessive HG002 HG002 chr2:124553048:G:T 2,.,. -1 -1 -1 -1 -1 -1 CNTNAP5 50_intron 40,.,. 1,.,. CNTNAP5/intron/ 0.0000 0.5142 0.6320 2 dominant HG002 HG002 chr2:124818455:G:C 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP5 50_intron 38,.,. 0.631579,.,. CNTNAP5/intron/ 0.0000 0.5142 0.6320 2 dominant HG002 HG002 chr2:125497496:C:T 1,.,. 6.62094e-06 0 1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr2:125608023:G:A 1,.,. 2.62975e-05 0 4 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr2:125923365:A:G 1,.,. 1.65604e-05 0 2 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr2:125958095:A:AT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.394737,.,. dominant HG002 HG002 chr2:126425628:A:AGCTACTCG 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr2:126501591:GCAATAATAACC:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr2:126501604:C:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr2:126548942:TAG:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. recessive HG002 HG002 chr2:126629978:T:TTATGTTC 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr2:126629979:C:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr2:126797116:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr2:126799076:TCTG:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr2:126799083:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr2:126799084:C:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr2:126799085:T:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr2:126930078:T:C 1,.,. 6.57073e-06 0 1 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr2:126985256:TTTTA:T 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.608696,.,. dominant HG002 HG002 chr2:126985263:T:A 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.608696,.,. dominant HG002 HG002 chr2:127008431:G:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr2:127042187:T:TTGTTTTG 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. recessive HG002 HG002 chr2:127069731:A:AACAC 2,.,. -1 -1 -1 0.0248774 1 71 BIN1 50_intron 18,.,. 1,.,. BIN1/intron/ 0.0000 0.6496 0.8170 3 Myopathy, centronuclear, 2 0.000 dominant HG002 HG002 chr2:128788657:T:C 1,.,. 0.000324816 0 3 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr2:128830828:AGTATATATATATAC:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr2:128839020:A:ATCC 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr2:128839021:C:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr2:128891825:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.594595,.,. dominant HG002 HG002 chr2:128891826:G:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr2:128923774:A:G 1,.,. 1.31671e-05 0 2 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr2:129157426:C:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr2:129192359:GCGCCCACCCA:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.387097,.,. dominant HG002 HG002 chr2:129192370:T:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.387097,.,. dominant HG002 HG002 chr2:129309427:G:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.351351,.,. dominant HG002 HG002 chr2:129403241:CTCTCTCTT:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr2:129587713:CGGTGTGAAGGA:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr2:129640557:CG:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr2:129895855:T:C 1,.,. 6.57713e-06 0 1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr2:129953947:TTACAA:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.511111,.,. dominant HG002 HG002 chr2:129953953:T:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.511111,.,. dominant HG002 HG002 chr2:130041857:T:C 1,.,. -1 -1 -1 0.00140154 0 4 24,.,. 0.541667,.,. dominant HG002 HG002 chr2:130083058:A:G 1,.,. -1 -1 -1 0.00140154 0 4 POTEF 50_intron 28,.,. 0.392857,.,. POTEF/intron/ 0.1649 0.4246 0.6300 2 dominant HG002 HG002 chr2:130090909:A:G 1,.,. -1 -1 -1 -1 -1 -1 POTEF 50_intron 32,.,. 0.5,.,. POTEF/intron/ 0.1649 0.4246 0.6300 2 dominant HG002 HG002 chr2:130417213:C:T 1,.,. -1 -1 -1 -1 -1 -1 FAR2P2 53_non_coding 50,.,. 0.5,.,. FAR2P2/non_coding/ dominant HG002 HG002 chr2:130449100:C:G 1,.,. -1 -1 -1 0.000700771 0 2 26,.,. 0.346154,.,. dominant HG002 HG002 chr2:130552664:A:G 1,.,. -1 -1 -1 -1 -1 -1 14,.,. 0.714286,.,. dominant HG002 HG002 chr2:130614375:T:C 1,.,. -1 -1 -1 0.00105116 0 3 POTEJ 50_intron 70,.,. 0.214286,.,. POTEJ/intron/ 0.1399 0.4521 0.7890 3 dominant HG002 HG002 chr2:131289471:AGAATGTGTGTGTGTGT:A 1,.,. 2.98352e-05 0 4 -1 -1 -1 PLEKHB2;FAR2P4 50_intron 31,.,. 0.451613,.,. PLEKHB2/intron/;FAR2P4/non_coding/ 0.0002 0.7775 1.2360 6 dominant HG002 HG002 chr2:131289488:G:A 1,.,. -1 -1 -1 -1 -1 -1 PLEKHB2;FAR2P4 50_intron 31,.,. 0.483871,.,. PLEKHB2/intron/;FAR2P4/non_coding/ 0.0002 0.7775 1.2360 6 recessive HG002 HG002 chr2:131318480:TATAC:T 2,.,. -1 -1 -1 -1 -1 -1 PLEKHB2 50_intron 39,.,. 1,.,. PLEKHB2/intron/ 0.0002 0.7775 1.2360 6 recessive HG002 HG002 chr2:131318488:A:C 2,.,. 0.000164222 0 3 -1 -1 -1 PLEKHB2 50_intron 39,.,. 1,.,. PLEKHB2/intron/ 0.0002 0.7775 1.2360 6 recessive HG002 HG002 chr2:131353594:G:C 2,.,. 0.00268889 3 401 0.00560617 0 16 PLEKHB2 36_3_prime_utr 37,.,. 1,.,. PLEKHB2/3_prime_utr/ENST00000404460 0.0002 0.7775 1.2360 6 recessive HG002 HG002 chr2:131368421:C:CCGAGTCA 2,.,. 8.69716e-05 0 1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr2:131368423:A:G 2,.,. 2.01091e-05 0 3 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr2:131794638:A:C 1,.,. -1 -1 -1 0.000700771 0 2 35,.,. 0.428571,.,. recessive HG002 HG002 chr2:132648481:G:T 2,.,. 9.28448e-05 0 3 -1 -1 -1 LYPD1 50_intron 45,.,. 1,.,. LYPD1/intron/ 0.0000 0.9109 1.4220 7 recessive HG002 HG002 chr2:135906321:AATCTAG:A 2,.,. -1 -1 -1 -1 -1 -1 DARS1 36_3_prime_utr 41,.,. 1,.,. DARS1/3_prime_utr/ENST00000264161 0.0000 0.7161 1.0230 5 Hypomyelination with brain stem and spinal cord involvement and leg spasticity 0.000 recessive HG002 HG002 chr2:135906329:G:A 2,.,. -1 -1 -1 -1 -1 -1 DARS1 36_3_prime_utr 41,.,. 1,.,. DARS1/3_prime_utr/ENST00000264161 0.0000 0.7161 1.0230 5 Hypomyelination with brain stem and spinal cord involvement and leg spasticity 0.000 recessive HG002 HG002 chr2:136304452:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. dominant HG002 HG002 chr2:136312285:T:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. recessive HG002 HG002 chr2:136888948:T:G 2,.,. 0.000251578 0 11 -1 -1 -1 THSD7B 50_intron 31,.,. 1,.,. THSD7B/intron/ 0.0000 0.6604 0.7630 3 dominant HG002 HG002 chr2:136890221:A:G 1,.,. -1 -1 -1 -1 -1 -1 THSD7B 50_intron 34,.,. 0.588235,.,. THSD7B/intron/ 0.0000 0.6604 0.7630 3 dominant HG002 HG002 chr2:137111074:G:C 1,.,. -1 -1 -1 -1 -1 -1 THSD7B 50_intron 47,.,. 0.531915,.,. THSD7B/intron/ 0.0000 0.6604 0.7630 3 dominant HG002 HG002 chr2:137393158:T:A 1,.,. -1 -1 -1 -1 -1 -1 THSD7B 50_intron 40,.,. 0.45,.,. THSD7B/intron/ 0.0000 0.6604 0.7630 3 dominant HG002 HG002 chr2:137393159:AATTTT:A 1,.,. -1 -1 -1 -1 -1 -1 THSD7B 50_intron 42,.,. 0.428571,.,. THSD7B/intron/ 0.0000 0.6604 0.7630 3 dominant HG002 HG002 chr2:137598884:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 THSD7B 50_intron 31,.,. 0.580645,.,. THSD7B/intron/ 0.0000 0.6604 0.7630 3 dominant HG002 HG002 chr2:137729046:G:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.372549,.,. dominant HG002 HG002 chr2:137739017:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.586957,.,. dominant HG002 HG002 chr2:138151253:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr2:138282954:A:C 1,.,. 1.34722e-05 0 2 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr2:138491278:A:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr2:138554920:C:T 1,.,. 6.57471e-06 0 1 -1 -1 -1 SPOPL 50_intron 32,.,. 0.375,.,. SPOPL/intron/ 0.2483 0.4128 0.5850 2 dominant HG002 HG002 chr2:138825283:A:G 1,.,. 1.31418e-05 0 2 -1 -1 -1 50,.,. 0.46,.,. dominant HG002 HG002 chr2:138943320:G:A 1,.,. 1.97195e-05 0 3 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr2:139027737:A:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr2:139041133:G:A 1,.,. 1.38976e-05 0 2 -1 -1 -1 39,.,. 0.641026,.,. dominant HG002 HG002 chr2:139108553:G:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr2:139424662:C:T 1,.,. 6.57774e-06 0 1 -1 -1 -1 49,.,. 0.571429,.,. dominant HG002 HG002 chr2:139482973:A:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.588235,.,. dominant HG002 HG002 chr2:139782299:C:CATG 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr2:139782300:T:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. recessive HG002 HG002 chr2:139982218:C:T 2,.,. 5.501e-05 0 8 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr2:140131204:GTA:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr2:140131211:G:A 2,.,. 5.40015e-05 0 1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr2:140285320:CACACATAT:C 1,.,. 2.86279e-05 0 2 -1 -1 -1 LRP1B 50_intron 47,.,. 0.531915,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:140285332:C:T 1,.,. 2.61411e-05 0 1 -1 -1 -1 LRP1B 50_intron 45,.,. 0.555556,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:140428929:C:T 1,.,. -1 -1 -1 -1 -1 -1 LRP1B 50_intron 43,.,. 0.44186,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 recessive HG002 HG002 chr2:140808220:T:TAAATCAAACCTAAGTGAGCC 2,.,. -1 -1 -1 -1 -1 -1 LRP1B 50_intron 36,.,. 1,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 recessive HG002 HG002 chr2:140808222:A:C 2,.,. -1 -1 -1 0.00420463 0 12 LRP1B 50_intron 38,.,. 1,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:140869910:T:C 1,.,. -1 -1 -1 -1 -1 -1 LRP1B 50_intron 47,.,. 0.489362,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:140869911:G:T 1,.,. -1 -1 -1 -1 -1 -1 LRP1B 50_intron 45,.,. 0.466667,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:140869912:C:T 1,.,. -1 -1 -1 -1 -1 -1 LRP1B 50_intron 48,.,. 0.5,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:140869913:T:TTTTGAATTAAAGG 1,.,. -1 -1 -1 -1 -1 -1 LRP1B 50_intron 47,.,. 0.489362,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:140890182:C:T 1,.,. 7.92979e-05 0 3 -1 -1 -1 LRP1B 50_intron 37,.,. 0.459459,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:140890183:TTAA:T 1,.,. -1 -1 -1 -1 -1 -1 LRP1B 50_intron 37,.,. 0.459459,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:141017327:TAATC:T 1,.,. -1 -1 -1 -1 -1 -1 LRP1B 50_intron 49,.,. 0.428571,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:141117100:TTTTCA:T 1,.,. 6.67557e-06 0 1 -1 -1 -1 LRP1B 50_intron 50,.,. 0.48,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 recessive HG002 HG002 chr2:141178837:TGATTCTTGAATA:T 2,.,. -1 -1 -1 -1 -1 -1 LRP1B 50_intron 47,.,. 1,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 recessive HG002 HG002 chr2:141178850:A:T 2,.,. -1 -1 -1 -1 -1 -1 LRP1B 50_intron 47,.,. 1,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:141230462:A:T 1,.,. 2.62781e-05 0 4 -1 -1 -1 LRP1B 50_intron 40,.,. 0.55,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:141473807:AGTGTTATGCAACT:A 1,.,. -1 -1 -1 -1 -1 -1 LRP1B 50_intron 32,.,. 0.53125,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:141473821:A:T 1,.,. -1 -1 -1 -1 -1 -1 LRP1B 50_intron 32,.,. 0.53125,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:141473824:T:C 1,.,. 2.71636e-05 0 1 -1 -1 -1 LRP1B 50_intron 32,.,. 0.53125,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 recessive HG002 HG002 chr2:141519038:A:G 2,.,. 0.000307692 0 1 -1 -1 -1 LRP1B 50_intron 45,.,. 1,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:141544710:G:A 1,.,. 2.63414e-05 0 4 -1 -1 -1 LRP1B 50_intron 37,.,. 0.459459,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:141677716:T:G 1,.,. 2.62836e-05 0 4 -1 -1 -1 LRP1B 50_intron 41,.,. 0.463415,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:141743507:T:C 1,.,. 1.21788e-05 0 1 -1 -1 -1 LRP1B 50_intron 35,.,. 0.371429,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:141905763:A:ACGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 LRP1B 50_intron 43,.,. 0.511628,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:141945944:A:T 1,.,. -1 -1 -1 -1 -1 -1 LRP1B 50_intron 50,.,. 0.48,.,. LRP1B/intron/ 1.0000 0.3667 0.4190 1 dominant HG002 HG002 chr2:142590757:G:GTATAGTAGATATAAAAATATCTACCATATATTTATAGTAGATATAAAAATCTACCTCATATT 1,.,. -1 -1 -1 0.00105116 0 3 48,.,. 0.375,.,. dominant HG002 HG002 chr2:142799754:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr2:143495505:A:G 1,.,. -1 -1 -1 -1 -1 -1 ARHGAP15 50_intron 38,.,. 0.5,.,. ARHGAP15/intron/;ARHGAP15/non_coding/ 0.0000 0.8520 1.1340 6 dominant HG002 HG002 chr2:143537220:A:G 1,.,. -1 -1 -1 -1 -1 -1 ARHGAP15 50_intron 45,.,. 0.6,.,. ARHGAP15/intron/;ARHGAP15/non_coding/ 0.0000 0.8520 1.1340 6 dominant HG002 HG002 chr2:144187664:A:C 1,.,. -1 -1 -1 -1 -1 -1 GTDC1 50_intron 44,.,. 0.568182,.,. GTDC1/intron/;GTDC1/non_coding/ 0.0000 1.0277 1.4920 8 dominant HG002 HG002 chr2:145039867:T:TTGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr2:147813478:T:C 1,.,. 7.4489e-06 0 1 -1 -1 -1 32,.,. 0.625,.,. dominant HG002 HG002 chr2:147842322:C:G 1,.,. 6.59587e-06 0 1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr2:147844629:C:T 1,.,. 6.77387e-06 0 1 -1 -1 -1 ACVR2A 35_5_prime_utr 41,.,. 0.560976,.,. ACVR2A/5_prime_utr/ENST00000535787;ACVR2A/5_prime_utr/ENST00000404590 1.0000 0.1183 0.2220 0 dominant HG002 HG002 chr2:147845197:C:T 1,.,. 6.59361e-06 0 1 -1 -1 -1 ACVR2A 30_synonymous 43,.,. 0.534884,.,. ACVR2A/synonymous/ENST00000404590;ACVR2A/synonymous/ENST00000241416 1.0000 0.1183 0.2220 0 dominant HG002 HG002 chr2:148299076:T:G 1,.,. -1 -1 -1 -1 -1 -1 MBD5 50_intron 47,.,. 0.595745,.,. MBD5/intron/;MBD5/non_coding/ 1.0000 0.0975 0.1610 0 Intellectual disability, autosomal dominant 1 0.000 dominant HG002 HG002 chr2:149121674:G:T 1,.,. -1 -1 -1 -1 -1 -1 LYPD6B 50_intron 47,.,. 0.510638,.,. LYPD6B/intron/;LYPD6B/non_coding/ 0.0004 0.7359 1.1700 6 dominant HG002 HG002 chr2:149157324:A:G 1,.,. 1.31537e-05 1 2 -1 -1 -1 LYPD6B 50_intron 44,.,. 0.522727,.,. LYPD6B/intron/;LYPD6B/non_coding/ 0.0004 0.7359 1.1700 6 dominant HG002 HG002 chr2:149157325:A:ACTTCTAGACT 1,.,. -1 -1 -1 -1 -1 -1 LYPD6B 50_intron 44,.,. 0.522727,.,. LYPD6B/intron/;LYPD6B/non_coding/ 0.0004 0.7359 1.1700 6 dominant HG002 HG002 chr2:149157326:A:T 1,.,. -1 -1 -1 -1 -1 -1 LYPD6B 50_intron 44,.,. 0.522727,.,. LYPD6B/intron/;LYPD6B/non_coding/ 0.0004 0.7359 1.1700 6 dominant HG002 HG002 chr2:149275185:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.448276,.,. recessive HG002 HG002 chr2:149567173:T:TTGGA 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr2:149567175:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr2:149567176:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. dominant HG002 HG002 chr2:149630240:TTTTG:T 1,.,. 0.00025413 0 4 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr2:149948583:A:T 1,.,. -1 -1 -1 0.00140154 0 4 49,.,. 0.44898,.,. dominant HG002 HG002 chr2:150024807:A:G 1,.,. -1 -1 -1 0.000700771 0 2 38,.,. 0.447368,.,. recessive HG002 HG002 chr2:150148873:G:T 2,.,. 6.61227e-06 0 1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr2:150148876:A:T 2,.,. 0.00019976 0 1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr2:150148879:G:GAAAAGATTGGAA 2,.,. 6.61209e-06 0 1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr2:150358080:T:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr2:150591018:C:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr2:150591019:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr2:150591026:C:CTG 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr2:151339568:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr2:151460526:TCTTATCAAC:T 1,.,. 0.000187829 0 3 -1 -1 -1 RIF1 50_intron 44,.,. 0.431818,.,. RIF1/intron/ 1.0000 0.1840 0.2540 0 dominant HG002 HG002 chr2:151460536:T:A 1,.,. -1 -1 -1 -1 -1 -1 RIF1 50_intron 44,.,. 0.431818,.,. RIF1/intron/ 1.0000 0.1840 0.2540 0 dominant HG002 HG002 chr2:151500423:T:TAGAC 1,.,. -1 -1 -1 -1 -1 -1 RIF1;NEB 50_intron 53,.,. 0.415094,.,. RIF1/intron/;NEB/intron/;NEB/non_coding/ 1.0000;;0.0000 0.1840;;0.5475 0.2540;;0.5970 0;;2 Nemaline myopathy 2;Arthrogryposis multiplex congenita 6 0.000 dominant HG002 HG002 chr2:152886822:C:CTAACAT 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr2:153222332:T:C 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.481481,.,. dominant HG002 HG002 chr2:153474887:T:TTGA 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.647059,.,. dominant HG002 HG002 chr2:153474888:A:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.647059,.,. dominant HG002 HG002 chr2:153542353:C:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr2:153566354:T:G 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.264151,.,. dominant HG002 HG002 chr2:154042699:T:C 1,.,. -1 -1 -1 -1 -1 -1 GALNT13 50_intron 31,.,. 0.451613,.,. GALNT13/intron/ 0.0466 0.4703 0.7350 2 dominant HG002 HG002 chr2:154089987:G:A 1,.,. 2.63355e-05 0 4 -1 -1 -1 GALNT13 50_intron 48,.,. 0.479167,.,. GALNT13/intron/ 0.0466 0.4703 0.7350 2 dominant HG002 HG002 chr2:154686011:G:T 1,.,. 2.62867e-05 0 4 -1 -1 -1 48,.,. 0.416667,.,. dominant HG002 HG002 chr2:154933836:G:T 1,.,. 2.39059e-05 0 3 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr2:154938451:A:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr2:154939041:A:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr2:154939042:T:A 1,.,. 2.09104e-05 0 2 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr2:154939043:G:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. recessive HG002 HG002 chr2:155653600:TATACAC:T 2,.,. -1 -1 -1 0.00525578 0 15 30,.,. 1,.,. recessive HG002 HG002 chr2:156208758:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr2:156208761:TA:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr2:156368579:A:C 2,.,. 0.00204194 0 126 0.00946041 3 27 6,.,. 1,.,. dominant HG002 HG002 chr2:156447338:C:CT 1,.,. -1 -1 -1 0.00105116 0 3 GPD2 50_intron 33,.,. 0.515152,.,. GPD2/intron/;GPD2/non_coding/ 0.0001 0.5657 0.7960 3 Type 2 diabetes mellitus 0.000 dominant HG002 HG002 chr2:156787474:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.575758,.,. dominant HG002 HG002 chr2:157322240:ACACACG:A 1,.,. -1 -1 -1 -1 -1 -1 ERMN 50_intron 51,.,. 0.568627,.,. ERMN/intron/ 0.0025 0.6058 0.9630 4 dominant HG002 HG002 chr2:157322250:A:G 1,.,. 2.30705e-05 0 3 -1 -1 -1 ERMN 50_intron 50,.,. 0.58,.,. ERMN/intron/ 0.0025 0.6058 0.9630 4 dominant HG002 HG002 chr2:157402094:T:TTCAA 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr2:157402095:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr2:157532373:G:C 1,.,. -1 -1 -1 -1 -1 -1 ACVR1C 36_3_prime_utr 33,.,. 0.393939,.,. ACVR1C/3_prime_utr/ENST00000243349 0.1745 0.4202 0.6000 2 dominant HG002 HG002 chr2:157734303:CCTGAGGCCT:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. dominant HG002 HG002 chr2:157734313:C:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.384615,.,. dominant HG002 HG002 chr2:158058411:C:T 1,.,. -1 -1 -1 -1 -1 -1 UPP2 50_intron 35,.,. 0.457143,.,. UPP2/intron/ 0.0000 0.7404 1.0980 5 dominant HG002 HG002 chr2:158433087:A:AATATATATATAT 1,.,. -1 -1 -1 -1 -1 -1 CCDC148 50_intron 32,.,. 0.34375,.,. CCDC148/intron/;CCDC148/non_coding/ 0.0000 0.9834 1.2090 6 recessive HG002 HG002 chr2:158876557:C:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr2:158981506:T:A 1,.,. -1 -1 -1 -1 -1 -1 TANC1 50_intron 28,.,. 0.5,.,. TANC1/intron/ 0.0000 0.5317 0.6480 2 dominant HG002 HG002 chr2:159004819:G:GACAC 1,.,. -1 -1 -1 -1 -1 -1 TANC1 50_intron 24,.,. 0.333333,.,. TANC1/intron/ 0.0000 0.5317 0.6480 2 recessive HG002 HG002 chr2:159125168:CCCATA:C 2,.,. -1 -1 -1 -1 -1 -1 TANC1 50_intron 32,.,. 1,.,. TANC1/intron/ 0.0000 0.5317 0.6480 2 recessive HG002 HG002 chr2:159125175:A:T 2,.,. -1 -1 -1 -1 -1 -1 TANC1 50_intron 32,.,. 1,.,. TANC1/intron/ 0.0000 0.5317 0.6480 2 dominant HG002 HG002 chr2:159313885:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.613636,.,. dominant HG002 HG002 chr2:159729406:C:A 1,.,. 1.31447e-05 0 2 -1 -1 -1 MARCHF7 50_intron 45,.,. 0.488889,.,. MARCHF7/intron/;MARCHF7/non_coding/ 0.9999 0.2397 0.3880 0 dominant HG002 HG002 chr2:159733061:AGTTATAAT:A 1,.,. -1 -1 -1 -1 -1 -1 MARCHF7 50_intron 56,.,. 0.535714,.,. MARCHF7/intron/;MARCHF7/non_coding/ 0.9999 0.2397 0.3880 0 dominant HG002 HG002 chr2:159733072:T:A 1,.,. -1 -1 -1 -1 -1 -1 MARCHF7 50_intron 56,.,. 0.535714,.,. MARCHF7/intron/;MARCHF7/non_coding/ 0.9999 0.2397 0.3880 0 recessive HG002 HG002 chr2:159821638:G:A 2,.,. -1 -1 -1 0.00560617 0 16 LY75-CD302 50_intron 43,.,. 1,.,. LY75-CD302/intron/ 0.0000 0.8013 0.9020 4 dominant HG002 HG002 chr2:159852419:TTTG:T 1,.,. 3.30295e-05 0 2 -1 -1 -1 LY75-CD302 50_intron 35,.,. 0.371429,.,. LY75-CD302/intron/ 0.0000 0.8013 0.9020 4 dominant HG002 HG002 chr2:159852424:T:G 1,.,. -1 -1 -1 -1 -1 -1 LY75-CD302 50_intron 35,.,. 0.371429,.,. LY75-CD302/intron/ 0.0000 0.8013 0.9020 4 dominant HG002 HG002 chr2:159911847:C:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr2:160316845:GGTGATCAGC:G 1,.,. -1 -1 -1 -1 -1 -1 RBMS1 50_intron 33,.,. 0.545455,.,. RBMS1/intron/;RBMS1/non_coding/ 0.9998 0.2585 0.4110 1 dominant HG002 HG002 chr2:160545019:T:TTTC 1,.,. 4.94694e-05 0 4 0.000700771 0 2 45,.,. 0.288889,.,. dominant HG002 HG002 chr2:160545026:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr2:160681459:C:CTGTGTGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.777778,.,. recessive HG002 HG002 chr2:160681484:G:T 2,.,. 0.00401759 4 594 0.0049054 0 14 53,.,. 1,.,. dominant HG002 HG002 chr2:160765041:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.606061,.,. dominant HG002 HG002 chr2:163236930:A:T 1,.,. 0.00190114 0 1 -1 -1 -1 51,.,. 0.509804,.,. dominant HG002 HG002 chr2:164613273:CT:C 1,.,. 1.316e-05 0 2 -1 -1 -1 GRB14 50_intron 31,.,. 0.580645,.,. GRB14/intron/;GRB14/non_coding/ 0.0000 0.6525 0.9400 4 dominant HG002 HG002 chr2:164822728:T:A 1,.,. 1.43856e-05 0 1 -1 -1 -1 COBLL1 50_intron 42,.,. 0.380952,.,. COBLL1/intron/;COBLL1/non_coding/ 0.0003 0.4967 0.6640 2 dominant HG002 HG002 chr2:164822729:A:T 1,.,. -1 -1 -1 -1 -1 -1 COBLL1 50_intron 44,.,. 0.363636,.,. COBLL1/intron/;COBLL1/non_coding/ 0.0003 0.4967 0.6640 2 dominant HG002 HG002 chr2:164822733:T:A 1,.,. -1 -1 -1 -1 -1 -1 COBLL1 50_intron 44,.,. 0.363636,.,. COBLL1/intron/;COBLL1/non_coding/ 0.0003 0.4967 0.6640 2 dominant HG002 HG002 chr2:165619276:T:G 1,.,. -1 -1 -1 -1 -1 -1 CSRNP3 50_intron 40,.,. 0.525,.,. CSRNP3/intron/ 0.9999 0.2391 0.3870 0 dominant HG002 HG002 chr2:165666059:G:A 1,.,. -1 -1 -1 -1 -1 -1 CSRNP3 50_intron 34,.,. 0.382353,.,. CSRNP3/intron/ 0.9999 0.2391 0.3870 0 dominant HG002 HG002 chr2:165870383:G:A 1,.,. -1 -1 -1 -1 -1 -1 TTC21B 50_intron 45,.,. 0.355556,.,. TTC21B/non_coding/;TTC21B/intron/ 0.0000 0.7067 0.8310 3 Nephronophthisis 12;Asphyxiating thoracic dystrophy 4 0.000 recessive HG002 HG002 chr2:165896125:G:A 2,.,. -1 -1 -1 -1 -1 -1 TTC21B 50_intron 41,.,. 1,.,. TTC21B/intron/ 0.0000 0.7067 0.8310 3 Nephronophthisis 12;Asphyxiating thoracic dystrophy 4 0.000 recessive HG002 HG002 chr2:165896127:G:C 2,.,. -1 -1 -1 -1 -1 -1 TTC21B 50_intron 41,.,. 1,.,. TTC21B/intron/ 0.0000 0.7067 0.8310 3 Nephronophthisis 12;Asphyxiating thoracic dystrophy 4 0.000 recessive HG002 HG002 chr2:165896129:A:AGG 2,.,. -1 -1 -1 -1 -1 -1 TTC21B 50_intron 41,.,. 1,.,. TTC21B/intron/ 0.0000 0.7067 0.8310 3 Nephronophthisis 12;Asphyxiating thoracic dystrophy 4 0.000 recessive HG002 HG002 chr2:165896132:G:GCTCTGA 2,.,. -1 -1 -1 -1 -1 -1 TTC21B 50_intron 41,.,. 1,.,. TTC21B/intron/ 0.0000 0.7067 0.8310 3 Nephronophthisis 12;Asphyxiating thoracic dystrophy 4 0.000 recessive HG002 HG002 chr2:165896133:A:C 2,.,. -1 -1 -1 -1 -1 -1 TTC21B 50_intron 40,.,. 1,.,. TTC21B/intron/ 0.0000 0.7067 0.8310 3 Nephronophthisis 12;Asphyxiating thoracic dystrophy 4 0.000 dominant HG002 HG002 chr2:166242256:T:TGATTATAATGATA 1,.,. -1 -1 -1 -1 -1 -1 SCN9A 50_intron 42,.,. 0.452381,.,. SCN9A/intron/ 0.0000 0.7201 0.8550 3 Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Neuropathy, hereditary sensory and autonomic, type 2A;Primary erythromelalgia;Paroxysmal extreme pain disorder 0.000 dominant HG002 HG002 chr2:166242259:T:A 1,.,. -1 -1 -1 -1 -1 -1 SCN9A 50_intron 42,.,. 0.452381,.,. SCN9A/intron/ 0.0000 0.7201 0.8550 3 Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Neuropathy, hereditary sensory and autonomic, type 2A;Primary erythromelalgia;Paroxysmal extreme pain disorder 0.000 dominant HG002 HG002 chr2:166370214:A:AATC 1,.,. -1 -1 -1 -1 -1 -1 SCN9A 50_intron 41,.,. 0.439024,.,. SCN9A/intron/;SCN9A/non_coding/ 0.0000 0.7201 0.8550 3 Channelopathy-associated congenital insensitivity to pain, autosomal recessive;Neuropathy, hereditary sensory and autonomic, type 2A;Primary erythromelalgia;Paroxysmal extreme pain disorder 0.000 recessive HG002 HG002 chr2:166542997:AC:A 2,.,. -1 -1 -1 -1 -1 -1 SCN7A 50_intron 55,.,. 1,.,. SCN7A/intron/ 0.0000 0.9472 1.1240 6 dominant HG002 HG002 chr2:166626546:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr2:166737678:A:AGGTTTGGCAGTGAAG 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr2:166737679:A:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr2:167166774:C:T 1,.,. -1 -1 -1 -1 -1 -1 XIRP2 50_intron 49,.,. 0.510204,.,. XIRP2/intron/;XIRP2/non_coding/ 0.0000 0.8120 0.9050 4 dominant HG002 HG002 chr2:167197303:G:T 1,.,. 2.62867e-05 0 4 -1 -1 -1 XIRP2 50_intron 46,.,. 0.369565,.,. XIRP2/intron/;XIRP2/non_coding/ 0.0000 0.8120 0.9050 4 dominant HG002 HG002 chr2:167228668:A:G 1,.,. -1 -1 -1 -1 -1 -1 XIRP2 50_intron 44,.,. 0.522727,.,. XIRP2/intron/;XIRP2/non_coding/ 0.0000 0.8120 0.9050 4 dominant HG002 HG002 chr2:167502567:GGAGGC:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr2:167502573:A:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr2:167512568:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.394737,.,. recessive HG002 HG002 chr2:167563773:C:CGGGT 2,.,. 0.0163934 1 2 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr2:167727910:CTTTTGATACAT:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr2:167727923:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr2:167727925:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr2:167727926:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr2:167727927:T:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr2:167827229:A:C 1,.,. 1.31456e-05 0 2 -1 -1 -1 34,.,. 0.617647,.,. dominant HG002 HG002 chr2:167925063:C:G 1,.,. 6.56944e-06 0 1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr2:168972328:CAGTAAAG:C 1,.,. -1 -1 -1 -1 -1 -1 ABCB11 50_intron 41,.,. 0.463415,.,. ABCB11/intron/ 0.0000 0.6111 0.7390 3 Benign recurrent intrahepatic cholestasis type 2;Progressive familial intrahepatic cholestasis type 2 0.000 dominant HG002 HG002 chr2:168972343:A:T 1,.,. -1 -1 -1 -1 -1 -1 ABCB11 50_intron 41,.,. 0.463415,.,. ABCB11/intron/ 0.0000 0.6111 0.7390 3 Benign recurrent intrahepatic cholestasis type 2;Progressive familial intrahepatic cholestasis type 2 0.000 dominant HG002 HG002 chr2:169119093:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr2:170880089:G:A 1,.,. -1 -1 -1 0.00105116 0 3 43,.,. 0.581395,.,. dominant HG002 HG002 chr2:170929151:G:A 1,.,. -1 -1 -1 -1 -1 -1 GORASP2 53_non_coding 39,.,. 0.564103,.,. GORASP2/non_coding/ 0.5221 0.3671 0.7240 2 dominant HG002 HG002 chr2:170969851:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr2:171108078:AAC:A 1,.,. -1 -1 -1 -1 -1 -1 TLK1 50_intron 44,.,. 0.340909,.,. TLK1/intron/;TLK1/non_coding/ 1.0000 0.2250 0.3380 0 recessive HG002 HG002 chr2:171853416:C:CTGGG 2,.,. -1 -1 -1 -1 -1 -1 SLC25A12 50_intron 36,.,. 1,.,. SLC25A12/intron/;SLC25A12/non_coding/ 0.8761 0.3732 0.5250 1 Developmental and epileptic encephalopathy, 39 0.000 recessive HG002 HG002 chr2:171853419:T:C 2,.,. 0.000111948 1 17 -1 -1 -1 SLC25A12 50_intron 36,.,. 1,.,. SLC25A12/intron/;SLC25A12/non_coding/ 0.8761 0.3732 0.5250 1 Developmental and epileptic encephalopathy, 39 0.000 recessive HG002 HG002 chr2:172332526:A:G 2,.,. 0.000184611 0 28 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr2:172614983:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.666667,.,. dominant HG002 HG002 chr2:172701650:T:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr2:173072265:T:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.568627,.,. dominant HG002 HG002 chr2:173261614:T:C 1,.,. 6.57004e-06 0 1 -1 -1 -1 MAP3K20 50_intron 41,.,. 0.390244,.,. MAP3K20/intron/ 0.1434 0.4192 0.5690 1 Split-foot malformation-mesoaxial polydactyly syndrome;Myopathy, centronuclear, 6, with fiber-type disproportion 0.000 dominant HG002 HG002 chr2:173620176:T:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr2:173653911:A:AATTAT 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr2:173653913:T:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr2:174365275:T:A 1,.,. -1 -1 -1 -1 -1 -1 CIR1 50_intron 46,.,. 0.586957,.,. CIR1/intron/ 0.0042 0.5994 0.9710 4 dominant HG002 HG002 chr2:174557214:C:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.305556,.,. dominant HG002 HG002 chr2:174698160:G:A 1,.,. 6.57272e-06 0 1 -1 -1 -1 36,.,. 0.638889,.,. dominant HG002 HG002 chr2:174779319:G:C 1,.,. 1.31544e-05 0 2 -1 -1 -1 CHRNA1 50_intron 39,.,. 0.512821,.,. CHRNA1/intron/ 0.0000 0.7113 0.9430 4 Myasthenic syndrome, congenital, 1B, fast-channel;Congenital myasthenic syndrome 1A;Lethal multiple pterygium syndrome;CHRNA1-Related Congenital Myasthenic Syndrome 0.000 recessive HG002 HG002 chr2:174869505:G:GGA 2,.,. -1 -1 -1 -1 -1 -1 CHN1 50_intron 40,.,. 1,.,. CHN1/intron/;CHN1/non_coding/ 0.0068 0.5203 0.7900 3 Duane retraction syndrome 2 0.000 recessive HG002 HG002 chr2:174869506:T:C 2,.,. -1 -1 -1 -1 -1 -1 CHN1 50_intron 40,.,. 1,.,. CHN1/intron/;CHN1/non_coding/ 0.0068 0.5203 0.7900 3 Duane retraction syndrome 2 0.000 recessive HG002 HG002 chr2:174869507:C:A 2,.,. -1 -1 -1 -1 -1 -1 CHN1 50_intron 40,.,. 1,.,. CHN1/intron/;CHN1/non_coding/ 0.0068 0.5203 0.7900 3 Duane retraction syndrome 2 0.000 recessive HG002 HG002 chr2:175177651:TGGACTGAG:T 2,.,. -1 -1 -1 -1 -1 -1 ATP5MC3 36_3_prime_utr 34,.,. 1,.,. ATP5MC3/3_prime_utr/ENST00000284727 0.3319 0.4048 0.8510 3 Dystonia, early-onset, and/or spastic paraplegia 0.000 recessive HG002 HG002 chr2:175177660:C:T 2,.,. 0.000145138 0 1 -1 -1 -1 ATP5MC3 36_3_prime_utr 34,.,. 1,.,. ATP5MC3/3_prime_utr/ENST00000284727 0.3319 0.4048 0.8510 3 Dystonia, early-onset, and/or spastic paraplegia 0.000 recessive HG002 HG002 chr2:175252380:T:A 2,.,. 0.000265671 0 40 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr2:175748005:C:G 1,.,. 2.62954e-05 0 4 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr2:175882907:C:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr2:175963490:A:G 1,.,. 1.3151e-05 0 2 -1 -1 -1 LNPK 50_intron 36,.,. 0.555556,.,. LNPK/intron/ 0.0025 0.6064 0.9640 4 Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 0.000 recessive HG002 HG002 chr2:176209312:TGGAGTCTCACTCTGTCA:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr2:176941885:T:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr2:177108939:G:A 1,.,. 1.31461e-05 0 2 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr2:177178760:AAAG:A 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.428571,.,. recessive HG002 HG002 chr2:177659266:GGAAAA:G 2,.,. 0.00295342 0 44 -1 -1 -1 PDE11A 50_intron 26,.,. 1,.,. PDE11A/intron/;PDE11A/non_coding/ 0.0000 0.8107 1.1180 6 Pigmented nodular adrenocortical disease, primary, 2 0.000 dominant HG002 HG002 chr2:178098705:A:G 1,.,. -1 -1 -1 -1 -1 -1 PDE11A;CYCTP 50_intron 42,.,. 0.5,.,. PDE11A/intron/;CYCTP/non_coding/ 0.0000 0.8107 1.1180 6 Pigmented nodular adrenocortical disease, primary, 2 0.000 dominant HG002 HG002 chr2:178159631:AAGAGTAG:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr2:178159639:C:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr2:178266361:T:C 1,.,. -1 -1 -1 -1 -1 -1 OSBPL6 50_intron 29,.,. 0.344828,.,. OSBPL6/intron/;OSBPL6/non_coding/ 0.9930 0.3628 0.4750 1 dominant HG002 HG002 chr2:178628045:A:T 1,.,. 6.57488e-06 0 1 -1 -1 -1 TTN 50_intron 39,.,. 0.589744,.,. TTN/intron/ 0.0000 0.4589 0.4790 1 Primary dilated cardiomyopathy;Myopathy, myofibrillar, 9, with early respiratory failure;Hypertrophic cardiomyopathy 9;Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G;Early-onset myopathy with fatal cardiomyopathy;Tibial muscular dystrophy 0.000 recessive HG002 HG002 chr2:179322594:G:A 2,.,. 0.00154526 1 121 0.000700771 0 2 34,.,. 1,.,. dominant HG002 HG002 chr2:179341464:T:TGC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr2:179341465:C:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr2:179573217:T:G 1,.,. -1 -1 -1 -1 -1 -1 ZNF385B 50_intron 55,.,. 0.309091,.,. ZNF385B/intron/;ZNF385B/non_coding/ 0.0027 0.5170 0.7510 3 dominant HG002 HG002 chr2:179744328:A:T 1,.,. -1 -1 -1 -1 -1 -1 ZNF385B 50_intron 40,.,. 0.325,.,. ZNF385B/intron/;ZNF385B/non_coding/ 0.0027 0.5170 0.7510 3 dominant HG002 HG002 chr2:179886900:A:G 1,.,. 6.56875e-06 0 1 -1 -1 -1 50,.,. 0.46,.,. recessive HG002 HG002 chr2:179989250:A:T 2,.,. -1 -1 -1 0.00350385 0 10 CWC22 50_intron 46,.,. 1,.,. CWC22/intron/ 0.0000 0.6516 0.8750 4 dominant HG002 HG002 chr2:180107051:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr2:180396826:A:ATATATATATCTATC 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.322581,.,. recessive HG002 HG002 chr2:180701222:A:G 2,.,. 0.000185295 0 5 0.00385424 1 11 22,.,. 1,.,. dominant HG002 HG002 chr2:180833773:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr2:181217540:T:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. recessive HG002 HG002 chr2:181387378:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr2:181489541:TCTGA:T 2,.,. -1 -1 -1 -1 -1 -1 ITGA4 50_intron 50,.,. 1,.,. ITGA4/intron/ 0.1959 0.4185 0.6030 2 recessive HG002 HG002 chr2:181489546:A:T 2,.,. -1 -1 -1 -1 -1 -1 ITGA4 50_intron 50,.,. 1,.,. ITGA4/intron/ 0.1959 0.4185 0.6030 2 dominant HG002 HG002 chr2:181907883:T:TC 1,.,. -1 -1 -1 -1 -1 -1 ITPRID2 50_intron 40,.,. 0.3,.,. ITPRID2/intron/;ITPRID2/non_coding/ 0.0000 0.5065 0.6370 2 dominant HG002 HG002 chr2:181907885:T:C 1,.,. -1 -1 -1 -1 -1 -1 ITPRID2 50_intron 40,.,. 0.3,.,. ITPRID2/intron/;ITPRID2/non_coding/ 0.0000 0.5065 0.6370 2 dominant HG002 HG002 chr2:182303891:C:CTGTT 1,.,. 3.66336e-05 0 3 -1 -1 -1 PDE1A 50_intron 54,.,. 0.462963,.,. PDE1A/intron/;PDE1A/non_coding/ 0.0013 0.5696 0.8540 3 dominant HG002 HG002 chr2:182516825:GGAAGGAAGGGA:G 1,.,. -1 -1 -1 -1 -1 -1 PDE1A 50_intron 31,.,. 0.548387,.,. PDE1A/intron/;PDE1A/non_coding/ 0.0013 0.5696 0.8540 3 recessive HG002 HG002 chr2:182530337:G:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr2:182530339:T:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr2:182530340:G:A 2,.,. 0.000518135 0 1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr2:182530341:A:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr2:182530343:A:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr2:182577931:C:CGGAAGGAAGGAAGGAAGGAAGGAA 1,.,. -1 -1 -1 0.00105116 0 3 12,.,. 0.75,.,. dominant HG002 HG002 chr2:183063770:T:C 1,.,. 1.25452e-05 0 1 -1 -1 -1 41,.,. 0.292683,.,. dominant HG002 HG002 chr2:183066025:AT:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr2:183354428:CACAT:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.666667,.,. dominant HG002 HG002 chr2:183354440:C:T 1,.,. 3.10501e-05 0 4 -1 -1 -1 36,.,. 0.666667,.,. dominant HG002 HG002 chr2:183593139:A:T 1,.,. 1.47124e-05 0 1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr2:183682352:A:C 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.54902,.,. dominant HG002 HG002 chr2:183786200:TGGAGCAAGTATCTTA:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr2:183786217:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr2:183926109:TAC:T 1,.,. 1.46111e-05 0 2 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr2:184416664:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.590909,.,. dominant HG002 HG002 chr2:184811451:A:T 1,.,. -1 -1 -1 -1 -1 -1 ZNF804A 50_intron 48,.,. 0.541667,.,. ZNF804A/intron/ 0.9953 0.1174 0.3700 0 dominant HG002 HG002 chr2:184811452:T:C 1,.,. -1 -1 -1 -1 -1 -1 ZNF804A 50_intron 48,.,. 0.541667,.,. ZNF804A/intron/ 0.9953 0.1174 0.3700 0 dominant HG002 HG002 chr2:185573705:C:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.480769,.,. dominant HG002 HG002 chr2:186169761:G:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.341463,.,. dominant HG002 HG002 chr2:186169762:CAA:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.341463,.,. dominant HG002 HG002 chr2:186169766:T:C 1,.,. 6.57281e-06 0 1 -1 -1 -1 40,.,. 0.35,.,. dominant HG002 HG002 chr2:186176334:G:T 1,.,. 4.96376e-05 0 3 -1 -1 -1 44,.,. 0.318182,.,. recessive HG002 HG002 chr2:186572393:A:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr2:186572576:T:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr2:186572577:T:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr2:186572578:T:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr2:186572580:T:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr2:186757883:T:C 1,.,. 6.57333e-06 0 1 -1 -1 -1 FAM171B 50_intron 40,.,. 0.575,.,. FAM171B/intron/ 1.0000 0.2413 0.3670 0 recessive HG002 HG002 chr2:187338121:A:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr2:187418851:CT:C 1,.,. 2.20881e-05 0 3 -1 -1 -1 CALCRL 50_intron 47,.,. 0.297872,.,. CALCRL/intron/;CALCRL/non_coding/ 0.0155 0.4775 0.7010 2 Lymphatic malformation 8 0.000 dominant HG002 HG002 chr2:187640807:C:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr2:187662249:G:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr2:187662250:AGT:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr2:187662253:A:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr2:187930594:C:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.531915,.,. dominant HG002 HG002 chr2:188320475:G:C 1,.,. 1.31487e-05 0 2 -1 -1 -1 GULP1 50_intron 54,.,. 0.333333,.,. GULP1/intron/;GULP1/non_coding/ dominant HG002 HG002 chr2:188418406:C:T 1,.,. -1 -1 -1 -1 -1 -1 GULP1 50_intron 46,.,. 0.369565,.,. GULP1/intron/;GULP1/non_coding/ dominant HG002 HG002 chr2:188743842:T:TCA 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.333333,.,. dominant HG002 HG002 chr2:188743847:A:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.361111,.,. dominant HG002 HG002 chr2:188750747:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr2:189233825:GGATATTGTGTTTC:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr2:189233839:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr2:189325321:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.431818,.,. dominant HG002 HG002 chr2:189584422:T:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.510204,.,. dominant HG002 HG002 chr2:191332267:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 MYO1B 50_intron 31,.,. 0.483871,.,. MYO1B/intron/;MYO1B/non_coding/ 0.0021 0.4427 0.5540 1 dominant HG002 HG002 chr2:191332268:T:A 1,.,. -1 -1 -1 -1 -1 -1 MYO1B 50_intron 30,.,. 0.5,.,. MYO1B/intron/;MYO1B/non_coding/ 0.0021 0.4427 0.5540 1 recessive HG002 HG002 chr2:191398166:T:TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTTCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC 2,.,. -1 -1 -1 -1 -1 -1 MYO1B 50_intron 23,.,. 1,.,. MYO1B/intron/ 0.0021 0.4427 0.5540 1 dominant HG002 HG002 chr2:192203086:C:A 1,.,. 1.87273e-05 0 2 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr2:193651802:G:A 1,.,. -1 -1 -1 -1 -1 -1 68,.,. 0.485294,.,. dominant HG002 HG002 chr2:193651993:T:G 1,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.47619,.,. dominant HG002 HG002 chr2:194272281:C:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.622222,.,. dominant HG002 HG002 chr2:194492545:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. recessive HG002 HG002 chr2:194956347:GTTATT:G 2,.,. 0.000786279 1 118 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr2:194956353:G:C 2,.,. 0.000785933 1 118 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr2:194956354:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr2:195294865:C:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.404255,.,. dominant HG002 HG002 chr2:196926459:C:T 1,.,. -1 -1 -1 -1 -1 -1 PGAP1 50_intron 39,.,. 0.461538,.,. PGAP1/intron/;PGAP1/non_coding/ 0.0206 0.4708 0.6910 2 Intellectual disability, autosomal recessive 42 0.000 dominant HG002 HG002 chr2:197048797:C:CCCA 1,.,. -1 -1 -1 -1 -1 -1 ANKRD44 50_intron 45,.,. 0.466667,.,. ANKRD44/intron/ 1.0000 0.2666 0.3650 0 dominant HG002 HG002 chr2:197048801:A:G 1,.,. -1 -1 -1 -1 -1 -1 ANKRD44 50_intron 45,.,. 0.466667,.,. ANKRD44/intron/ 1.0000 0.2666 0.3650 0 dominant HG002 HG002 chr2:197068389:AAAAAAAAAT:A 1,.,. -1 -1 -1 -1 -1 -1 ANKRD44 50_intron 44,.,. 0.477273,.,. ANKRD44/intron/ 1.0000 0.2666 0.3650 0 dominant HG002 HG002 chr2:197286379:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 ANKRD44 50_intron 35,.,. 0.485714,.,. ANKRD44/intron/;ANKRD44/non_coding/ 1.0000 0.2666 0.3650 0 dominant HG002 HG002 chr2:197353809:T:TCGAAGTTATGC 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr2:197690395:AT:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.413043,.,. dominant HG002 HG002 chr2:197958916:G:GTGCTC 1,.,. -1 -1 -1 -1 -1 -1 PLCL1 50_intron 50,.,. 0.64,.,. PLCL1/intron/ 0.0001 0.5037 0.6630 2 dominant HG002 HG002 chr2:197958919:T:G 1,.,. -1 -1 -1 -1 -1 -1 PLCL1 50_intron 50,.,. 0.64,.,. PLCL1/intron/ 0.0001 0.5037 0.6630 2 dominant HG002 HG002 chr2:198029699:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 PLCL1 50_intron 48,.,. 0.520833,.,. PLCL1/intron/ 0.0001 0.5037 0.6630 2 dominant HG002 HG002 chr2:198029700:C:T 1,.,. -1 -1 -1 -1 -1 -1 PLCL1 50_intron 48,.,. 0.541667,.,. PLCL1/intron/ 0.0001 0.5037 0.6630 2 recessive HG002 HG002 chr2:199074556:AAGAC:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr2:199074561:A:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr2:199355358:A:C 2,.,. -1 -1 -1 -1 -1 -1 SATB2 50_intron 37,.,. 1,.,. SATB2/intron/;SATB2/non_coding/ 1.0000 0.0162 0.0770 0 Chromosome 2q32-q33 deletion syndrome 0.000 dominant HG002 HG002 chr2:199545017:C:A 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.490566,.,. dominant HG002 HG002 chr2:199624894:CTGGCCTCA:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.548387,.,. recessive HG002 HG002 chr2:199700003:CCT:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr2:199700008:C:T 2,.,. 0.00937838 2 347 0.00140154 0 4 46,.,. 1,.,. dominant HG002 HG002 chr2:199858681:AGT:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr2:199858684:G:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr2:200037343:G:C 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.789474,.,. dominant HG002 HG002 chr2:200316760:T:G 1,.,. -1 -1 -1 -1 -1 -1 SPATS2L 50_intron 50,.,. 0.42,.,. SPATS2L/intron/;SPATS2L/non_coding/ 0.0058 0.4969 0.7220 2 dominant HG002 HG002 chr2:200428047:G:A 1,.,. 3.44222e-05 0 4 -1 -1 -1 SPATS2L 50_intron 33,.,. 0.484848,.,. SPATS2L/intron/ 0.0058 0.4969 0.7220 2 recessive HG002 HG002 chr2:200739295:A:G 2,.,. 0.00238559 3 326 -1 -1 -1 AOX2P 53_non_coding 35,.,. 1,.,. AOX2P/non_coding/ dominant HG002 HG002 chr2:200873989:AG:A 1,.,. -1 -1 -1 -1 -1 -1 PPIL3 50_intron 48,.,. 0.479167,.,. PPIL3/intron/;PPIL3/non_coding/ 0.0400 0.7612 1.6370 8 dominant HG002 HG002 chr2:200884147:T:C 1,.,. -1 -1 -1 -1 -1 -1 PPIL3 50_intron 38,.,. 0.526316,.,. PPIL3/intron/;PPIL3/non_coding/ 0.0400 0.7612 1.6370 8 dominant HG002 HG002 chr2:200884148:T:A 1,.,. -1 -1 -1 -1 -1 -1 PPIL3 50_intron 38,.,. 0.526316,.,. PPIL3/intron/;PPIL3/non_coding/ 0.0400 0.7612 1.6370 8 dominant HG002 HG002 chr2:200884149:G:T 1,.,. -1 -1 -1 -1 -1 -1 PPIL3 50_intron 38,.,. 0.526316,.,. PPIL3/intron/;PPIL3/non_coding/ 0.0400 0.7612 1.6370 8 dominant HG002 HG002 chr2:200884150:G:GCCTGTAATC 1,.,. -1 -1 -1 -1 -1 -1 PPIL3 50_intron 38,.,. 0.526316,.,. PPIL3/intron/;PPIL3/non_coding/ 0.0400 0.7612 1.6370 8 dominant HG002 HG002 chr2:201079962:T:G 1,.,. 2.62854e-05 0 4 -1 -1 -1 NDUFB3 50_intron 45,.,. 0.533333,.,. NDUFB3/intron/ 0.0030 0.8129 1.4570 8 Mitochondrial complex 1 deficiency, nuclear type 25 0.000 dominant HG002 HG002 chr2:201108428:TCTG:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr2:201108432:T:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5625,.,. dominant HG002 HG002 chr2:201167770:G:A 1,.,. 2.6276e-05 0 4 -1 -1 -1 CFLAR 36_3_prime_utr 36,.,. 0.638889,.,. CFLAR/3_prime_utr/ENST00000309955 0.9993 0.2112 0.3970 0 recessive HG002 HG002 chr2:201455432:GACC:G 2,.,. -1 -1 -1 -1 -1 -1 STRADB 50_intron 35,.,. 1,.,. STRADB/intron/;STRADB/non_coding/ 0.0000 0.5744 0.7920 3 recessive HG002 HG002 chr2:201455436:A:C 2,.,. -1 -1 -1 -1 -1 -1 STRADB 50_intron 36,.,. 1,.,. STRADB/intron/;STRADB/non_coding/ 0.0000 0.5744 0.7920 3 dominant HG002 HG002 chr2:201595918:AAAAAAAAC:A 1,.,. -1 -1 -1 -1 -1 -1 C2CD6 50_intron 31,.,. 0.483871,.,. C2CD6/intron/ 0.0000 0.7700 0.9080 4 0.000 recessive HG002 HG002 chr2:201595928:G:C 2,.,. -1 -1 -1 -1 -1 -1 C2CD6 50_intron 32,.,. 1,.,. C2CD6/intron/ 0.0000 0.7700 0.9080 4 0.000 dominant HG002 HG002 chr2:201843928:T:G 1,.,. 7.29927e-05 0 2 -1 -1 -1 CDK15 50_intron 33,.,. 0.484848,.,. CDK15/intron/;CDK15/non_coding/ 0.0000 1.0272 1.2910 7 dominant HG002 HG002 chr2:202366483:A:AATTAT 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.473684,.,. dominant HG002 HG002 chr2:202567981:A:T 1,.,. 1.97223e-05 0 3 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr2:202599846:C:A 1,.,. 2.63338e-05 0 4 -1 -1 -1 28,.,. 0.571429,.,. dominant HG002 HG002 chr2:202790724:T:C 1,.,. -1 -1 -1 -1 -1 -1 ICA1L 50_intron 36,.,. 0.416667,.,. ICA1L/intron/ 0.0058 0.5486 0.8580 3 dominant HG002 HG002 chr2:203515655:A:C 1,.,. -1 -1 -1 -1 -1 -1 RAPH1 50_intron 31,.,. 0.645161,.,. RAPH1/intron/;RAPH1/non_coding/ 1.0000 0.2488 0.3780 0 dominant HG002 HG002 chr2:203602836:ATTCTGCC:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr2:203602845:G:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr2:203602846:C:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr2:203927354:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. recessive HG002 HG002 chr2:203930530:A:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr2:204046714:G:A 1,.,. 1.97291e-05 0 3 -1 -1 -1 45,.,. 0.377778,.,. dominant HG002 HG002 chr2:204147223:T:TTTTATTTA 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.666667,.,. dominant HG002 HG002 chr2:204147223:T:TTTTATTTATTTA 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.73913,.,. recessive HG002 HG002 chr2:204467623:G:A 2,.,. -1 -1 -1 0.0175193 1 50 50,.,. 0.98,.,. recessive HG002 HG002 chr2:204485869:A:ATTCTGTTGGCCCCGCAAT 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr2:204485870:C:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr2:204485872:T:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr2:204753547:ACT:A 1,.,. -1 -1 -1 -1 -1 -1 PARD3B 50_intron 42,.,. 0.452381,.,. PARD3B/intron/ 0.0000 0.7575 0.9120 4 dominant HG002 HG002 chr2:204753550:G:T 1,.,. -1 -1 -1 -1 -1 -1 PARD3B 50_intron 42,.,. 0.452381,.,. PARD3B/intron/ 0.0000 0.7575 0.9120 4 dominant HG002 HG002 chr2:204925565:TTACGG:T 1,.,. -1 -1 -1 -1 -1 -1 PARD3B 50_intron 42,.,. 0.428571,.,. PARD3B/intron/ 0.0000 0.7575 0.9120 4 dominant HG002 HG002 chr2:204925572:A:G 1,.,. -1 -1 -1 -1 -1 -1 PARD3B 50_intron 43,.,. 0.44186,.,. PARD3B/intron/ 0.0000 0.7575 0.9120 4 dominant HG002 HG002 chr2:204925573:A:T 1,.,. -1 -1 -1 -1 -1 -1 PARD3B 50_intron 43,.,. 0.44186,.,. PARD3B/intron/ 0.0000 0.7575 0.9120 4 dominant HG002 HG002 chr2:204925574:G:A 1,.,. -1 -1 -1 -1 -1 -1 PARD3B 50_intron 43,.,. 0.44186,.,. PARD3B/intron/ 0.0000 0.7575 0.9120 4 dominant HG002 HG002 chr2:205035814:TATATATCTATA:T 1,.,. -1 -1 -1 -1 -1 -1 PARD3B 50_intron 34,.,. 0.323529,.,. PARD3B/intron/ 0.0000 0.7575 0.9120 4 dominant HG002 HG002 chr2:205056912:CACATATATAT:C 1,.,. -1 -1 -1 -1 -1 -1 PARD3B 50_intron 45,.,. 0.377778,.,. PARD3B/intron/ 0.0000 0.7575 0.9120 4 dominant HG002 HG002 chr2:205056924:T:A 1,.,. -1 -1 -1 -1 -1 -1 PARD3B 50_intron 45,.,. 0.377778,.,. PARD3B/intron/ 0.0000 0.7575 0.9120 4 dominant HG002 HG002 chr2:205299545:CTGCTAATATTATATATTATATATATATATATAATATATATATA:C 1,.,. -1 -1 -1 -1 -1 -1 PARD3B 50_intron 41,.,. 0.463415,.,. PARD3B/intron/;PARD3B/non_coding/ 0.0000 0.7575 0.9120 4 dominant HG002 HG002 chr2:205299590:A:T 1,.,. -1 -1 -1 -1 -1 -1 PARD3B 50_intron 42,.,. 0.452381,.,. PARD3B/intron/;PARD3B/non_coding/ 0.0000 0.7575 0.9120 4 dominant HG002 HG002 chr2:205299591:A:G 1,.,. -1 -1 -1 -1 -1 -1 PARD3B 50_intron 42,.,. 0.452381,.,. PARD3B/intron/;PARD3B/non_coding/ 0.0000 0.7575 0.9120 4 dominant HG002 HG002 chr2:205787713:AGTGTC:A 1,.,. -1 -1 -1 -1 -1 -1 NRP2 50_intron 33,.,. 0.333333,.,. NRP2/intron/;NRP2/non_coding/ 0.0059 0.4406 0.5620 1 dominant HG002 HG002 chr2:206109365:A:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr2:206356145:ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCACCTC:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr2:207485529:G:GAT 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.735294,.,. dominant HG002 HG002 chr2:207485531:A:T 1,.,. 6.59491e-06 0 1 -1 -1 -1 34,.,. 0.735294,.,. dominant HG002 HG002 chr2:207585780:G:C 1,.,. 1.31567e-05 0 2 -1 -1 -1 CREB1 50_intron 44,.,. 0.568182,.,. CREB1/intron/;CREB1/non_coding/ 1.0000 0.0601 0.1890 0 Angiomatoid fibrous histiocytoma 0.000 dominant HG002 HG002 chr2:207622553:T:TTTTTAAGGGAA 1,.,. -1 -1 -1 -1 -1 -1 METTL21A 50_intron 33,.,. 0.454545,.,. METTL21A/intron/;METTL21A/non_coding/ 0.0000 0.9638 1.4280 7 dominant HG002 HG002 chr2:207622556:G:T 1,.,. -1 -1 -1 -1 -1 -1 METTL21A 50_intron 34,.,. 0.470588,.,. METTL21A/intron/;METTL21A/non_coding/ 0.0000 0.9638 1.4280 7 recessive HG002 HG002 chr2:207702804:C:G 2,.,. 0.0208333 1 2 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr2:207702805:C:A 2,.,. 0.0212766 1 2 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr2:207862412:AGATT:A 1,.,. -1 -1 -1 -1 -1 -1 PLEKHM3 50_intron 38,.,. 0.394737,.,. PLEKHM3/intron/ 0.0000 0.5128 0.6610 2 dominant HG002 HG002 chr2:207862418:C:G 1,.,. -1 -1 -1 -1 -1 -1 PLEKHM3 50_intron 38,.,. 0.394737,.,. PLEKHM3/intron/ 0.0000 0.5128 0.6610 2 dominant HG002 HG002 chr2:207863912:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 PLEKHM3 50_intron 36,.,. 0.416667,.,. PLEKHM3/intron/ 0.0000 0.5128 0.6610 2 dominant HG002 HG002 chr2:207932610:AGACAAGT:A 1,.,. -1 -1 -1 -1 -1 -1 PLEKHM3 50_intron 62,.,. 0.451613,.,. PLEKHM3/intron/ 0.0000 0.5128 0.6610 2 dominant HG002 HG002 chr2:207978759:C:T 1,.,. -1 -1 -1 -1 -1 -1 PLEKHM3 50_intron 33,.,. 0.424242,.,. PLEKHM3/intron/ 0.0000 0.5128 0.6610 2 dominant HG002 HG002 chr2:208053039:A:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. recessive HG002 HG002 chr2:208145251:A:G 2,.,. 0.00377772 4 569 0.00210231 0 6 CRYGB 50_intron 38,.,. 1,.,. CRYGB/intron/ 0.0001 0.8353 1.3050 7 Cataract 39 multiple types 0.000 dominant HG002 HG002 chr2:208936463:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr2:209111294:C:T 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.471698,.,. dominant HG002 HG002 chr2:209233575:C:CAAATCCTAGTTA 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr2:209233577:G:T 1,.,. 6.60659e-06 0 1 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr2:209350792:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr2:210141202:T:C 1,.,. -1 -1 -1 -1 -1 -1 KANSL1L 50_intron 51,.,. 0.431373,.,. KANSL1L/intron/ 1.0000 0.2181 0.3410 0 dominant HG002 HG002 chr2:210297014:TGTAC:T 1,.,. -1 -1 -1 -1 -1 -1 MYL1 50_intron 50,.,. 0.48,.,. MYL1/intron/;MYL1/non_coding/ 0.0002 0.6904 1.0630 5 Congenital myopathy with reduced type 2 muscle fibers 0.000 dominant HG002 HG002 chr2:210297020:T:C 1,.,. -1 -1 -1 -1 -1 -1 MYL1 50_intron 50,.,. 0.54,.,. MYL1/intron/;MYL1/non_coding/ 0.0002 0.6904 1.0630 5 Congenital myopathy with reduced type 2 muscle fibers 0.000 dominant HG002 HG002 chr2:210464982:A:AAAACAACAACAAC 1,.,. 7.16681e-06 0 1 -1 -1 -1 LANCL1 50_intron 55,.,. 0.381818,.,. LANCL1/intron/ 0.0000 1.0116 1.3040 7 dominant HG002 HG002 chr2:210512955:G:T 1,.,. -1 -1 -1 0.00105116 0 3 CPS1 50_intron 46,.,. 0.521739,.,. CPS1/intron/ 0.0000 0.6440 0.7640 3 Pulmonary hypertension, neonatal, susceptibility to;Congenital hyperammonemia, type I 0.000 dominant HG002 HG002 chr2:210589380:T:C 1,.,. -1 -1 -1 -1 -1 -1 CPS1 50_intron 39,.,. 0.512821,.,. CPS1/intron/ 0.0000 0.6440 0.7640 3 Pulmonary hypertension, neonatal, susceptibility to;Congenital hyperammonemia, type I 0.000 dominant HG002 HG002 chr2:211511027:A:G 1,.,. -1 -1 -1 -1 -1 -1 ERBB4 50_intron 38,.,. 0.5,.,. ERBB4/intron/ 1.0000 0.2668 0.3570 0 Amyotrophic lateral sclerosis type 19 0.000 dominant HG002 HG002 chr2:211839155:G:A 1,.,. 0.000169607 0 2 -1 -1 -1 ERBB4 50_intron 33,.,. 0.363636,.,. ERBB4/intron/;ERBB4/non_coding/ 1.0000 0.2668 0.3570 0 Amyotrophic lateral sclerosis type 19 0.000 dominant HG002 HG002 chr2:212133406:T:G 1,.,. -1 -1 -1 -1 -1 -1 ERBB4 50_intron 53,.,. 0.509434,.,. ERBB4/intron/;ERBB4/non_coding/ 1.0000 0.2668 0.3570 0 Amyotrophic lateral sclerosis type 19 0.000 recessive HG002 HG002 chr2:212192038:TTATA:T 2,.,. -1 -1 -1 0.000700771 0 2 ERBB4 50_intron 41,.,. 1,.,. ERBB4/intron/;ERBB4/non_coding/ 1.0000 0.2668 0.3570 0 Amyotrophic lateral sclerosis type 19 0.000 dominant HG002 HG002 chr2:212286599:T:G 1,.,. -1 -1 -1 -1 -1 -1 ERBB4 50_intron 54,.,. 0.277778,.,. ERBB4/intron/;ERBB4/non_coding/ 1.0000 0.2668 0.3570 0 Amyotrophic lateral sclerosis type 19 0.000 dominant HG002 HG002 chr2:212323830:A:G 1,.,. -1 -1 -1 -1 -1 -1 ERBB4 50_intron 36,.,. 0.416667,.,. ERBB4/intron/;ERBB4/non_coding/ 1.0000 0.2668 0.3570 0 Amyotrophic lateral sclerosis type 19 0.000 dominant HG002 HG002 chr2:212702634:AAAAT:A 1,.,. 7.1736e-06 0 1 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr2:212736937:G:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.636364,.,. recessive HG002 HG002 chr2:213860437:T:A 2,.,. 0.000149696 0 20 0.0129643 0 37 SPAG16 50_intron 33,.,. 1,.,. SPAG16/intron/ 0.0000 0.9686 1.2610 7 dominant HG002 HG002 chr2:214019074:G:T 1,.,. 1.31707e-05 0 2 0.000700771 0 2 SPAG16 50_intron 52,.,. 0.480769,.,. SPAG16/intron/;SPAG16/non_coding/ 0.0000 0.9686 1.2610 7 dominant HG002 HG002 chr2:214219955:G:A 1,.,. -1 -1 -1 -1 -1 -1 SPAG16 50_intron 43,.,. 0.534884,.,. SPAG16/intron/;SPAG16/non_coding/ 0.0000 0.9686 1.2610 7 dominant HG002 HG002 chr2:214219956:TTGGCAGGTTCATC:T 1,.,. -1 -1 -1 -1 -1 -1 SPAG16 50_intron 43,.,. 0.534884,.,. SPAG16/intron/;SPAG16/non_coding/ 0.0000 0.9686 1.2610 7 dominant HG002 HG002 chr2:214233341:A:AATG 1,.,. -1 -1 -1 -1 -1 -1 SPAG16 50_intron 43,.,. 0.511628,.,. SPAG16/intron/;SPAG16/non_coding/ 0.0000 0.9686 1.2610 7 recessive HG002 HG002 chr2:214254117:G:A 2,.,. -1 -1 -1 -1 -1 -1 SPAG16 50_intron 42,.,. 1,.,. SPAG16/intron/;SPAG16/non_coding/ 0.0000 0.9686 1.2610 7 recessive HG002 HG002 chr2:214254118:G:GGAATGCTTGCAAT 2,.,. -1 -1 -1 -1 -1 -1 SPAG16 50_intron 42,.,. 1,.,. SPAG16/intron/;SPAG16/non_coding/ 0.0000 0.9686 1.2610 7 dominant HG002 HG002 chr2:214496243:T:C 1,.,. -1 -1 -1 -1 -1 -1 VWC2L 50_intron 43,.,. 0.418605,.,. VWC2L/intron/ 0.1767 0.4366 0.7410 3 dominant HG002 HG002 chr2:214496244:C:T 1,.,. -1 -1 -1 -1 -1 -1 VWC2L 50_intron 44,.,. 0.409091,.,. VWC2L/intron/ 0.1767 0.4366 0.7410 3 dominant HG002 HG002 chr2:215311597:A:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.619048,.,. dominant HG002 HG002 chr2:215438610:T:C 1,.,. 1.04659e-05 0 1 -1 -1 -1 18,.,. 0.444444,.,. recessive HG002 HG002 chr2:215679568:T:TAATAACAG 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr2:215679569:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr2:215679571:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. dominant HG002 HG002 chr2:216031429:A:G 1,.,. -1 -1 -1 -1 -1 -1 MREG;PECR 50_intron 32,.,. 0.53125,.,. MREG/intron/;PECR/intron/ 0.0000;;0.0000 1.0842;;1.1313 1.5990;;1.7390 8;;8 dominant HG002 HG002 chr2:217553679:G:GCTCTCT 1,.,. 2.65287e-05 0 2 -1 -1 -1 25,.,. 0.52,.,. dominant HG002 HG002 chr2:217688953:C:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr2:217688955:C:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.484848,.,. recessive HG002 HG002 chr2:218159988:GTGATGA:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr2:218159996:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr2:218286804:G:T 1,.,. -1 -1 -1 -1 -1 -1 TMBIM1 35_5_prime_utr 27,.,. 0.444444,.,. TMBIM1/5_prime_utr/ENST00000444881 0.0000 0.8256 1.1140 6 dominant HG002 HG002 chr2:219399106:C:T 1,.,. 6.56478e-06 0 1 -1 -1 -1 DNPEP 50_intron 24,.,. 0.541667,.,. DNPEP/intron/ 0.0000 0.7530 0.9630 4 dominant HG002 HG002 chr2:219733803:A:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr2:219868126:A:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr2:219999662:GCTTGATGGA:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr2:219999672:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr2:220089817:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. recessive HG002 HG002 chr2:220210144:CTGACT:C 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr2:220210150:G:C 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. dominant HG002 HG002 chr2:221297442:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr2:221366006:G:GTCA 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr2:221493166:C:T 1,.,. 6.56961e-06 0 1 -1 -1 -1 EPHA4 50_intron 40,.,. 0.55,.,. EPHA4/intron/;EPHA4/non_coding/ 1.0000 0.1704 0.2560 0 0.000 dominant HG002 HG002 chr2:221505317:A:AATTT 1,.,. -1 -1 -1 -1 -1 -1 EPHA4 50_intron 30,.,. 0.433333,.,. EPHA4/intron/ 1.0000 0.1704 0.2560 0 0.000 recessive HG002 HG002 chr2:221710339:AAACAAT:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.982456,.,. recessive HG002 HG002 chr2:221710348:A:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. dominant HG002 HG002 chr2:221860933:G:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr2:222122446:A:AAGTT 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.387755,.,. dominant HG002 HG002 chr2:222122447:T:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.387755,.,. dominant HG002 HG002 chr2:222240873:T:G 1,.,. -1 -1 -1 -1 -1 -1 PAX3 50_intron 47,.,. 0.531915,.,. PAX3/intron/;PAX3/non_coding/ 0.9999 0.2617 0.4090 1 Waardenburg syndrome type 3;Craniofacial-deafness-hand syndrome;Waardenburg syndrome type 1 0.000 dominant HG002 HG002 chr2:222391231:G:GGAT 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr2:222391233:G:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr2:222424637:A:G 1,.,. -1 -1 -1 -1 -1 -1 SGPP2 14_missense 34,.,. 0.5,.,. SGPP2/missense/ENST00000321276 0.0000 0.9074 1.2310 6 dominant HG002 HG002 chr2:222634261:T:C 1,.,. -1 -1 -1 -1 -1 -1 FARSB 50_intron 37,.,. 0.324324,.,. FARSB/intron/ 0.0074 0.6482 1.1310 6 Rajab interstitial lung disease with brain calcifications 1 0.000 dominant HG002 HG002 chr2:222672975:G:C 1,.,. -1 -1 -1 -1 -1 -1 MOGAT1 50_intron 40,.,. 0.55,.,. MOGAT1/intron/ 0.0000 0.9702 1.3090 7 dominant HG002 HG002 chr2:223542574:G:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr2:223542577:C:CGCTGATCTGATCCCT 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr2:223542578:A:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. recessive HG002 HG002 chr2:223769614:G:T 2,.,. -1 -1 -1 -1 -1 -1 AP1S3 50_intron 25,.,. 1,.,. AP1S3/intron/ 0.0683 0.4815 0.8170 3 Psoriasis 15, pustular, susceptibility to 0.000 recessive HG002 HG002 chr2:223835073:C:A 2,.,. -1 -1 -1 -1 -1 -1 AP1S3 50_intron 42,.,. 1,.,. AP1S3/intron/ 0.0683 0.4815 0.8170 3 Psoriasis 15, pustular, susceptibility to 0.000 recessive HG002 HG002 chr2:223835077:G:A 2,.,. -1 -1 -1 -1 -1 -1 AP1S3 50_intron 41,.,. 1,.,. AP1S3/intron/ 0.0683 0.4815 0.8170 3 Psoriasis 15, pustular, susceptibility to 0.000 dominant HG002 HG002 chr2:223866479:C:CTTCT 1,.,. -1 -1 -1 -1 -1 -1 AC093884.1;WDFY1 50_intron 34,.,. 0.529412,.,. AC093884.1/intron/;WDFY1/non_coding/ 0.0005 0.5082 0.6970 2 dominant HG002 HG002 chr2:223964824:C:T 1,.,. -1 -1 -1 -1 -1 -1 MRPL44 50_intron 34,.,. 0.588235,.,. MRPL44/intron/ 0.0000 0.8218 1.1940 6 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 0.000 dominant HG002 HG002 chr2:224317335:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr2:224432208:CTGATCCA:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr2:224432218:G:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr2:224458588:TTG:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.255814,.,. dominant HG002 HG002 chr2:224557893:A:AAAAC 1,.,. -1 -1 -1 -1 -1 -1 CUL3 50_intron 45,.,. 0.488889,.,. CUL3/intron/;CUL3/non_coding/ 1.0000 0.2335 0.3650 0 Pseudohypoaldosteronism, type 2;Neurodevelopmental disorder with or without autism or seizures;Pseudohypoaldosteronism type 2E 0.000 recessive HG002 HG002 chr2:224906976:A:C 2,.,. -1 -1 -1 -1 -1 -1 DOCK10 50_intron 35,.,. 1,.,. DOCK10/intron/;DOCK10/non_coding/ 0.0000 0.5518 0.6490 2 dominant HG002 HG002 chr2:224908182:G:GTGTGTA 1,.,. -1 -1 -1 -1 -1 -1 DOCK10 50_intron 38,.,. 0.447368,.,. DOCK10/intron/;DOCK10/non_coding/ 0.0000 0.5518 0.6490 2 dominant HG002 HG002 chr2:225059381:T:C 1,.,. 1.31416e-05 0 2 -1 -1 -1 50,.,. 0.6,.,. dominant HG002 HG002 chr2:225373809:T:C 1,.,. 1.97259e-05 0 3 -1 -1 -1 51,.,. 0.490196,.,. dominant HG002 HG002 chr2:225512630:C:CTCCT 1,.,. 5.83873e-05 0 4 -1 -1 -1 NYAP2 50_intron 46,.,. 0.413043,.,. NYAP2/intron/ 0.0082 0.4839 0.6970 2 recessive HG002 HG002 chr2:225894585:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr2:226126273:G:GTTTTA 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.653846,.,. recessive HG002 HG002 chr2:226619695:TTCCTGGAC:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr2:226619705:T:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr2:227192442:C:CCCAGGTTTCA 2,.,. -1 -1 -1 -1 -1 -1 COL4A3 50_intron 33,.,. 1,.,. COL4A3/intron/ 0.0000 0.6076 0.7090 2 Alport syndrome 3b, autosomal recessive;Hematuria, benign familial, 2;Autosomal dominant Alport syndrome 0.000 dominant HG002 HG002 chr2:227203594:T:G 1,.,. -1 -1 -1 0.00140154 0 4 COL4A3 50_intron 35,.,. 0.4,.,. COL4A3/intron/ 0.0000 0.6076 0.7090 2 Alport syndrome 3b, autosomal recessive;Hematuria, benign familial, 2;Autosomal dominant Alport syndrome 0.000 recessive HG002 HG002 chr2:227403517:T:TTTTG 2,.,. 0.00352177 0 77 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr2:227403537:T:G 2,.,. 0.00163114 0 247 0.00595655 1 17 29,.,. 1,.,. dominant HG002 HG002 chr2:227564267:GGAGGGTGTGTGTGTGT:G 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.578947,.,. dominant HG002 HG002 chr2:227646402:GGTAGT:G 1,.,. -1 -1 -1 -1 -1 -1 C2orf83 53_non_coding 38,.,. 0.342105,.,. C2orf83/non_coding/ dominant HG002 HG002 chr2:227646409:G:A 1,.,. 0.00158228 0 2 -1 -1 -1 C2orf83 53_non_coding 38,.,. 0.342105,.,. C2orf83/non_coding/ recessive HG002 HG002 chr2:227776622:C:CAAAAAAAA 2,.,. -1 -1 -1 0.01822 0 52 14,.,. 1,.,. dominant HG002 HG002 chr2:227919206:AAAG:A 1,.,. -1 -1 -1 -1 -1 -1 DAW1 50_intron 48,.,. 0.3125,.,. DAW1/intron/ 0.0000 0.8641 1.1330 6 Ciliary dyskinesia, primary, 52 dominant HG002 HG002 chr2:228235205:T:G 1,.,. 1.97055e-05 0 3 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr2:228282305:G:A 1,.,. 1.97213e-05 0 3 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr2:228340676:T:G 1,.,. 1.97073e-05 0 3 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr2:228371274:A:G 1,.,. 2.62905e-05 0 4 -1 -1 -1 50,.,. 0.62,.,. dominant HG002 HG002 chr2:228573505:C:G 1,.,. 2.63064e-05 0 4 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr2:228593382:T:G 1,.,. 2.62767e-05 0 4 -1 -1 -1 36,.,. 0.333333,.,. dominant HG002 HG002 chr2:228843930:G:A 1,.,. 2.6348e-05 0 4 -1 -1 -1 36,.,. 0.333333,.,. dominant HG002 HG002 chr2:229377094:C:A 1,.,. 2.62933e-05 0 4 -1 -1 -1 DNER 50_intron 44,.,. 0.545455,.,. DNER/intron/ 0.2102 0.4138 0.5610 1 dominant HG002 HG002 chr2:229394028:G:T 1,.,. 6.57609e-06 0 1 -1 -1 -1 DNER 50_intron 44,.,. 0.568182,.,. DNER/intron/ 0.2102 0.4138 0.5610 1 dominant HG002 HG002 chr2:229519009:G:A 1,.,. 2.66283e-05 0 4 -1 -1 -1 DNER 50_intron 43,.,. 0.55814,.,. DNER/intron/ 0.2102 0.4138 0.5610 1 dominant HG002 HG002 chr2:229534845:T:C 1,.,. -1 -1 -1 -1 -1 -1 DNER 50_intron 47,.,. 0.510638,.,. DNER/intron/ 0.2102 0.4138 0.5610 1 dominant HG002 HG002 chr2:229551378:A:T 1,.,. -1 -1 -1 -1 -1 -1 DNER 50_intron 41,.,. 0.463415,.,. DNER/intron/ 0.2102 0.4138 0.5610 1 dominant HG002 HG002 chr2:229551380:T:C 1,.,. -1 -1 -1 -1 -1 -1 DNER 50_intron 42,.,. 0.47619,.,. DNER/intron/ 0.2102 0.4138 0.5610 1 dominant HG002 HG002 chr2:229744135:A:AAATT 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. recessive HG002 HG002 chr2:229901616:GTC:G 2,.,. -1 -1 -1 0.00385424 0 11 TRIP12 50_intron 27,.,. 1,.,. TRIP12/intron/;TRIP12/non_coding/ 1.0000 0.1033 0.1450 0 Clark-Baraitser syndrome 0.000 recessive HG002 HG002 chr2:229901619:T:A 2,.,. -1 -1 -1 0.0101612 1 29 TRIP12 50_intron 31,.,. 1,.,. TRIP12/intron/;TRIP12/non_coding/ 1.0000 0.1033 0.1450 0 Clark-Baraitser syndrome 0.000 dominant HG002 HG002 chr2:230255542:G:C 1,.,. -1 -1 -1 0.00105116 0 3 SP140 50_intron 28,.,. 0.607143,.,. SP140/intron/ 0.0000 0.5757 0.7450 3 dominant HG002 HG002 chr2:230510631:C:CTCCCAAGTAGCTGG 1,.,. -1 -1 -1 -1 -1 -1 SP100 50_intron 43,.,. 0.465116,.,. SP100/intron/;SP100/non_coding/ 0.0000 0.6324 0.8130 3 dominant HG002 HG002 chr2:230510632:C:G 1,.,. -1 -1 -1 -1 -1 -1 SP100 50_intron 42,.,. 0.452381,.,. SP100/intron/;SP100/non_coding/ 0.0000 0.6324 0.8130 3 dominant HG002 HG002 chr2:230564538:T:TTCAG 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.404762,.,. dominant HG002 HG002 chr2:230564540:T:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr2:230571877:T:TTTTCTTTC 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.333333,.,. dominant HG002 HG002 chr2:230655307:T:C 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.230769,.,. dominant HG002 HG002 chr2:230676888:T:TGCCTCACTGCAACCACTGTCTCCC 1,.,. 1.98004e-05 0 3 -1 -1 -1 27,.,. 0.592593,.,. recessive HG002 HG002 chr2:230915842:GGTT:G 2,.,. -1 -1 -1 -1 -1 -1 GPR55 50_intron 28,.,. 1,.,. GPR55/intron/ 0.0047 0.6179 1.0230 5 recessive HG002 HG002 chr2:230915846:G:T 2,.,. -1 -1 -1 -1 -1 -1 GPR55 50_intron 28,.,. 1,.,. GPR55/intron/ 0.0047 0.6179 1.0230 5 recessive HG002 HG002 chr2:230915847:G:A 2,.,. -1 -1 -1 -1 -1 -1 GPR55 50_intron 28,.,. 1,.,. GPR55/intron/ 0.0047 0.6179 1.0230 5 recessive HG002 HG002 chr2:230915851:AACCAGAC:A 2,.,. -1 -1 -1 -1 -1 -1 GPR55 50_intron 28,.,. 1,.,. GPR55/intron/ 0.0047 0.6179 1.0230 5 recessive HG002 HG002 chr2:231579369:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr2:231579375:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr2:231579398:A:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr2:231579571:T:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr2:231579582:C:T 2,.,. -1 -1 -1 0.00140154 2 4 15,.,. 1,.,. recessive HG002 HG002 chr2:231579584:C:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr2:231579586:T:C 2,.,. -1 -1 -1 0.00280308 4 8 15,.,. 1,.,. recessive HG002 HG002 chr2:231579588:C:T 2,.,. -1 -1 -1 0.00175193 2 5 15,.,. 1,.,. dominant HG002 HG002 chr2:231692709:T:G 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.333333,.,. dominant HG002 HG002 chr2:231734842:G:A 1,.,. -1 -1 -1 0.000700771 0 2 PDE6D 50_intron 27,.,. 0.518519,.,. PDE6D/intron/ 0.2272 0.4488 1.0270 5 Joubert syndrome 22 0.000 dominant HG002 HG002 chr2:231847054:C:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.64,.,. dominant HG002 HG002 chr2:231847097:A:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr2:231847180:G:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr2:231847202:A:C 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.571429,.,. dominant HG002 HG002 chr2:231847442:T:G 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr2:231847456:C:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr2:231847516:A:C 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.607143,.,. dominant HG002 HG002 chr2:231847615:G:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.56,.,. dominant HG002 HG002 chr2:231847628:T:C 1,.,. 8.92586e-06 0 1 -1 -1 -1 23,.,. 0.521739,.,. dominant HG002 HG002 chr2:232149354:G:C 1,.,. -1 -1 -1 -1 -1 -1 DIS3L2 50_intron 32,.,. 0.46875,.,. DIS3L2/intron/ 0.9971 0.3502 0.4680 1 Perlman syndrome 0.000 dominant HG002 HG002 chr2:232149523:G:A 1,.,. -1 -1 -1 0.000700771 0 2 DIS3L2 50_intron 32,.,. 0.4375,.,. DIS3L2/intron/ 0.9971 0.3502 0.4680 1 Perlman syndrome 0.000 dominant HG002 HG002 chr2:232149532:A:AT 1,.,. -1 -1 -1 0.000700771 0 2 DIS3L2 50_intron 33,.,. 0.454545,.,. DIS3L2/intron/ 0.9971 0.3502 0.4680 1 Perlman syndrome 0.000 dominant HG002 HG002 chr2:232149565:T:A 1,.,. 1.35522e-05 0 2 0.000700771 0 2 DIS3L2 50_intron 33,.,. 0.454545,.,. DIS3L2/intron/ 0.9971 0.3502 0.4680 1 Perlman syndrome 0.000 recessive HG002 HG002 chr2:232468766:C:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr2:232468768:C:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chr2:232557319:T:A 1,.,. -1 -1 -1 -1 -1 -1 EIF4E2 50_intron 33,.,. 0.484848,.,. EIF4E2/intron/;EIF4E2/non_coding/ 0.0803 0.4566 0.7260 2 dominant HG002 HG002 chr2:232557323:A:G 1,.,. -1 -1 -1 -1 -1 -1 EIF4E2 50_intron 34,.,. 0.470588,.,. EIF4E2/intron/;EIF4E2/non_coding/ 0.0803 0.4566 0.7260 2 dominant HG002 HG002 chr2:232557324:G:C 1,.,. -1 -1 -1 -1 -1 -1 EIF4E2 50_intron 34,.,. 0.470588,.,. EIF4E2/intron/;EIF4E2/non_coding/ 0.0803 0.4566 0.7260 2 dominant HG002 HG002 chr2:232900231:C:CTT 1,.,. -1 -1 -1 -1 -1 -1 NGEF 50_intron 29,.,. 0.482759,.,. NGEF/intron/;NGEF/non_coding/ 0.9620 0.3650 0.5000 1 dominant HG002 HG002 chr2:232900276:A:T 1,.,. 3.16202e-05 0 3 0.000700771 0 2 NGEF 50_intron 28,.,. 0.5,.,. NGEF/intron/;NGEF/non_coding/ 0.9620 0.3650 0.5000 1 recessive HG002 HG002 chr2:233014919:A:C 2,.,. 0.000762939 1 25 -1 -1 -1 AC106876.1 53_non_coding 27,.,. 1,.,. AC106876.1/non_coding/ recessive HG002 HG002 chr2:233176518:T:G 2,.,. -1 -1 -1 -1 -1 -1 INPP5D 50_intron 28,.,. 1,.,. INPP5D/intron/;INPP5D/non_coding/ 1.0000 0.2796 0.3790 0 dominant HG002 HG002 chr2:233232878:G:GACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATC 1,.,. -1 -1 -1 -1 -1 -1 ATG16L1 50_intron 32,.,. 0.46875,.,. ATG16L1/intron/ 0.2733 0.4096 0.5450 1 Inflammatory bowel disease 10 recessive HG002 HG002 chr2:233241525:G:A 2,.,. -1 -1 -1 0.00140154 0 4 ATG16L1 50_intron 24,.,. 1,.,. ATG16L1/intron/ 0.2733 0.4096 0.5450 1 Inflammatory bowel disease 10 dominant HG002 HG002 chr2:233787734:CAT:C 1,.,. -1 -1 -1 -1 -1 -1 MROH2A 50_intron 31,.,. 0.354839,.,. MROH2A/intron/;MROH2A/non_coding/ 0.0000 0.8965 1.0260 5 dominant HG002 HG002 chr2:233896231:T:TATATAC 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr2:234282621:TACATTCACATTGTTGGGAAACCCAC:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr2:234282647:A:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.468085,.,. recessive HG002 HG002 chr2:234566896:G:T 2,.,. 0.00166025 0 239 0.00105116 0 3 34,.,. 1,.,. dominant HG002 HG002 chr2:234612159:G:GTGTA 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. recessive HG002 HG002 chr2:234645700:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr2:234648091:C:G 2,.,. -1 -1 -1 0.00315347 0 9 18,.,. 1,.,. dominant HG002 HG002 chr2:234729614:A:C 1,.,. 1.99659e-05 0 3 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr2:234742985:T:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr2:234905567:A:C 1,.,. -1 -1 -1 0.00105116 0 3 41,.,. 0.414634,.,. dominant HG002 HG002 chr2:234905583:A:C 1,.,. -1 -1 -1 0.00105116 0 3 37,.,. 0.459459,.,. recessive HG002 HG002 chr2:234992678:A:C 2,.,. -1 -1 -1 0.0269797 4 77 SH3BP4 50_intron 28,.,. 1,.,. SH3BP4/intron/;SH3BP4/non_coding/ 0.0005 0.4919 0.6580 2 recessive HG002 HG002 chr2:234992757:G:T 2,.,. -1 -1 -1 0.0241766 4 69 SH3BP4 50_intron 27,.,. 1,.,. SH3BP4/intron/;SH3BP4/non_coding/ 0.0005 0.4919 0.6580 2 dominant HG002 HG002 chr2:235050604:C:G 1,.,. -1 -1 -1 -1 -1 -1 SH3BP4 50_intron 31,.,. 0.322581,.,. SH3BP4/intron/ 0.0005 0.4919 0.6580 2 dominant HG002 HG002 chr2:235203491:C:T 1,.,. 2.6275e-05 0 4 -1 -1 -1 32,.,. 0.3125,.,. dominant HG002 HG002 chr2:235251271:TACTA:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.290323,.,. dominant HG002 HG002 chr2:235251277:T:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.346154,.,. dominant HG002 HG002 chr2:235474483:AGGTCCGTCCTTCCTTCCTTCCTTC:A 1,.,. -1 -1 -1 0.000700771 0 2 34,.,. 0.558824,.,. dominant HG002 HG002 chr2:235474509:T:G 1,.,. -1 -1 -1 0.000700771 0 2 34,.,. 0.558824,.,. dominant HG002 HG002 chr2:235511880:A:ATGTGTGTGAATG 1,.,. -1 -1 -1 -1 -1 -1 AGAP1 50_intron 25,.,. 0.44,.,. AGAP1/intron/ 1.0000 0.2656 0.3660 0 dominant HG002 HG002 chr2:235526671:A:ACT 1,.,. -1 -1 -1 -1 -1 -1 AGAP1 50_intron 35,.,. 0.428571,.,. AGAP1/intron/ 1.0000 0.2656 0.3660 0 dominant HG002 HG002 chr2:235526672:T:G 1,.,. 6.58788e-06 0 1 -1 -1 -1 AGAP1 50_intron 35,.,. 0.428571,.,. AGAP1/intron/ 1.0000 0.2656 0.3660 0 dominant HG002 HG002 chr2:235691727:C:T 1,.,. 1.31285e-05 0 2 -1 -1 -1 AGAP1 50_intron 29,.,. 0.448276,.,. AGAP1/intron/ 1.0000 0.2656 0.3660 0 dominant HG002 HG002 chr2:235692049:C:G 1,.,. 6.57125e-06 0 1 -1 -1 -1 AGAP1 50_intron 30,.,. 0.466667,.,. AGAP1/intron/ 1.0000 0.2656 0.3660 0 dominant HG002 HG002 chr2:235721069:G:A 1,.,. 1.31487e-05 0 2 -1 -1 -1 AGAP1 50_intron 33,.,. 0.575758,.,. AGAP1/intron/ 1.0000 0.2656 0.3660 0 dominant HG002 HG002 chr2:235765114:C:CGTATCTGGGAGCGTCCGTGGGGTTGGGGGTATCTGGGAGCGTCCGTGGGGTGGGGGCATCTGGGAGCGTCCGTGGGGTGGGGGCATCTGGGAGCGTCCGTGGGGTTGGGGGTATCTGGGAGCGTCCGTGGGGTGGGGGTATCTGGGAGCGTCCGTGGGGTGGGGGCATCTGGGAGCGTCCGTGGGGTGGGGGTATCTGGGAGCGTCTGTGGGGTGGGGGTATCTGGGAGCGTCCGTGGGGGTGGGGGTATCTGGGAGCGTCCGTGGGGTGGGG 1,.,. -1 -1 -1 -1 -1 -1 AGAP1 50_intron 21,.,. 0.571429,.,. AGAP1/intron/ 1.0000 0.2656 0.3660 0 dominant HG002 HG002 chr2:235802805:G:A 1,.,. -1 -1 -1 -1 -1 -1 AGAP1 50_intron 30,.,. 0.466667,.,. AGAP1/intron/ 1.0000 0.2656 0.3660 0 dominant HG002 HG002 chr2:235995691:C:A 1,.,. -1 -1 -1 -1 -1 -1 AGAP1 50_intron 39,.,. 0.564103,.,. AGAP1/intron/ 1.0000 0.2656 0.3660 0 dominant HG002 HG002 chr2:236091315:C:A 1,.,. 1.31306e-05 0 2 -1 -1 -1 AGAP1 50_intron 21,.,. 0.714286,.,. AGAP1/intron/;AGAP1/non_coding/ 1.0000 0.2656 0.3660 0 dominant HG002 HG002 chr2:236251767:C:T 1,.,. -1 -1 -1 -1 -1 -1 ASB18 50_intron 27,.,. 0.592593,.,. ASB18/intron/;ASB18/non_coding/ 0.0000 1.3244 1.7640 8 dominant HG002 HG002 chr2:236373872:C:G 1,.,. 2.62612e-05 0 4 -1 -1 -1 IQCA1 50_intron 28,.,. 0.392857,.,. IQCA1/intron/ 0.0001 0.5057 0.6710 2 dominant HG002 HG002 chr2:236629730:C:T 1,.,. 6.56625e-06 0 1 -1 -1 -1 26,.,. 0.576923,.,. dominant HG002 HG002 chr2:236796600:T:TCTTC 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr2:236873550:T:C 1,.,. 4.78332e-05 0 1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr2:236892138:TAGTC:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr2:236892143:T:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr2:236948692:AATAAAT:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr2:237030924:G:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr2:237031048:C:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.5,.,. dominant HG002 HG002 chr2:237103424:A:T 1,.,. 6.57117e-06 0 1 -1 -1 -1 39,.,. 0.410256,.,. recessive HG002 HG002 chr2:237190987:A:AAG 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr2:237190988:G:A 2,.,. 0.000395075 0 60 0.00385424 0 11 45,.,. 1,.,. dominant HG002 HG002 chr2:237212184:C:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr2:237235084:TGAG:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr2:237235088:T:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr2:237294789:A:G 1,.,. 6.56909e-06 0 1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr2:237443563:G:C 1,.,. 2.75266e-05 0 4 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr2:237666797:C:CTTTCTCTTTCTCTT 1,.,. -1 -1 -1 -1 -1 -1 LRRFIP1 50_intron 41,.,. 0.536585,.,. LRRFIP1/intron/;LRRFIP1/non_coding/ 0.0000 0.6160 0.8130 3 dominant HG002 HG002 chr2:237685104:ACCCTC:A 1,.,. -1 -1 -1 -1 -1 -1 LRRFIP1 50_intron 20,.,. 0.3,.,. LRRFIP1/intron/;LRRFIP1/non_coding/ 0.0000 0.6160 0.8130 3 dominant HG002 HG002 chr2:237771559:C:G 1,.,. -1 -1 -1 0.00105116 0 3 LRRFIP1 50_intron 35,.,. 0.485714,.,. LRRFIP1/intron/;LRRFIP1/non_coding/ 0.0000 0.6160 0.8130 3 dominant HG002 HG002 chr2:238303820:G:GGTGT 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. recessive HG002 HG002 chr2:238499104:C:T 2,.,. 0.00186479 1 284 0.00140154 0 4 28,.,. 1,.,. recessive HG002 HG002 chr2:238695683:G:A 2,.,. 0.00141898 0 216 0.00140154 0 4 27,.,. 1,.,. recessive HG002 HG002 chr2:238696936:G:T 2,.,. 0.00486004 4 740 0.00315347 0 9 25,.,. 1,.,. recessive HG002 HG002 chr2:238759879:G:T 2,.,. 0.000518247 1 72 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr2:238800591:AAAGAACC:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr2:238800599:T:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr2:239050300:T:TA 1,.,. -1 -1 -1 -1 -1 -1 HDAC4 36_3_prime_utr 18,.,. 0.444444,.,. HDAC4/3_prime_utr/ENST00000345617;HDAC4/3_prime_utr/ENST00000543185 1.0000 0.1264 0.1920 0 Neurodevelopmental disorder with central hypotonia and dysmorphic facies;Chromosome 2q37 deletion syndrome 0.000 dominant HG002 HG002 chr2:239615545:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.575,.,. recessive HG002 HG002 chr2:239643112:T:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr2:239643247:C:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr2:239643261:C:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr2:239643291:A:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr2:239643334:AG:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr2:239643376:A:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr2:239643415:C:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr2:239643421:G:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr2:239872507:T:C 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.333333,.,. recessive HG002 HG002 chr2:239899048:A:G 2,.,. 0.00154666 2 65 0.0024527 0 7 NDUFA10 50_intron 27,.,. 1,.,. NDUFA10/intron/ 0.0000 0.8416 1.1200 6 Mitochondrial complex 1 deficiency, nuclear type 22 0.000 dominant HG002 HG002 chr2:239915112:C:G 1,.,. -1 -1 -1 -1 -1 -1 NDUFA10 50_intron 30,.,. 0.533333,.,. NDUFA10/intron/ 0.0000 0.8416 1.1200 6 Mitochondrial complex 1 deficiency, nuclear type 22 0.000 dominant HG002 HG002 chr2:239915113:ACAGAACAC:A 1,.,. -1 -1 -1 -1 -1 -1 NDUFA10 50_intron 30,.,. 0.533333,.,. NDUFA10/intron/ 0.0000 0.8416 1.1200 6 Mitochondrial complex 1 deficiency, nuclear type 22 0.000 dominant HG002 HG002 chr2:240113238:A:T 1,.,. 1.97073e-05 0 3 0.000700771 0 2 36,.,. 0.472222,.,. dominant HG002 HG002 chr2:240164526:G:T 1,.,. 2.72224e-05 0 4 -1 -1 -1 19,.,. 0.578947,.,. dominant HG002 HG002 chr2:240780798:C:CCACACACACACACACACACACACACAGCTCCACACACACACACACAGCTCCACA 1,.,. -1 -1 -1 0.00105116 0 3 KIF1A 50_intron 23,.,. 0.347826,.,. KIF1A/intron/;KIF1A/non_coding/ 1.0000 0.2357 0.3040 0 Spastic paraplegia 30b, autosomal recessive;Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory and autonomic, type 2A;Intellectual disability, autosomal dominant 9;Neuropathy, hereditary sensory, type 2C 0.000 dominant HG002 HG002 chr2:240781487:AGCTC:A 1,.,. 4.36567e-05 1 4 -1 -1 -1 KIF1A 50_intron 26,.,. 0.384615,.,. KIF1A/intron/;KIF1A/non_coding/ 1.0000 0.2357 0.3040 0 Spastic paraplegia 30b, autosomal recessive;Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory and autonomic, type 2A;Intellectual disability, autosomal dominant 9;Neuropathy, hereditary sensory, type 2C 0.000 dominant HG002 HG002 chr2:240895786:G:T 1,.,. -1 -1 -1 -1 -1 -1 MAB21L4 14_missense 27,.,. 0.407407,.,. MAB21L4/missense/ENST00000388934;MAB21L4/missense/ENST00000414499;MAB21L4/missense/ENST00000454476 0.0000 0.8996 1.2480 7 recessive HG002 HG002 chr2:240961812:T:C 2,.,. -1 -1 -1 -1 -1 -1 CROCC2 50_intron 21,.,. 1,.,. CROCC2/intron/ 0.0000 1.0488 1.2140 6 dominant HG002 HG002 chr2:240961813:A:T 1,.,. -1 -1 -1 -1 -1 -1 CROCC2 50_intron 20,.,. 0.5,.,. CROCC2/intron/ 0.0000 1.0488 1.2140 6 dominant HG002 HG002 chr2:240961858:A:G 1,.,. -1 -1 -1 -1 -1 -1 CROCC2 50_intron 20,.,. 0.55,.,. CROCC2/intron/ 0.0000 1.0488 1.2140 6 dominant HG002 HG002 chr2:240961860:ACACTCAT:A 1,.,. 1.33241e-05 0 1 -1 -1 -1 CROCC2 50_intron 21,.,. 0.52381,.,. CROCC2/intron/ 0.0000 1.0488 1.2140 6 dominant HG002 HG002 chr2:240985546:C:T 1,.,. -1 -1 -1 0.000700771 0 2 CROCC2 50_intron 22,.,. 0.545455,.,. CROCC2/intron/ 0.0000 1.0488 1.2140 6 dominant HG002 HG002 chr2:241002833:A:G 1,.,. -1 -1 -1 -1 -1 -1 SNED1 50_intron 20,.,. 0.7,.,. SNED1/intron/ 0.0000 0.5444 0.6660 2 dominant HG002 HG002 chr2:241047164:AAAAAAGT:A 1,.,. -1 -1 -1 -1 -1 -1 SNED1 50_intron 26,.,. 0.307692,.,. SNED1/intron/ 0.0000 0.5444 0.6660 2 recessive HG002 HG002 chr2:241081596:A:G 2,.,. -1 -1 -1 -1 -1 -1 SNED1;MTERF4 50_intron 33,.,. 1,.,. SNED1/intron/;SNED1/non_coding/;MTERF4/non_coding/ 0.0000;;0.0001 0.5444;;0.6913 0.6660;;1.0370 2;;5 dominant HG002 HG002 chr2:241128189:A:AGAAT 1,.,. 6.56858e-06 0 1 -1 -1 -1 PASK 50_intron 31,.,. 0.516129,.,. PASK/intron/;PASK/non_coding/ 0.0000 0.8784 1.0300 5 dominant HG002 HG002 chr2:241213813:G:A 1,.,. 6.56909e-06 0 1 -1 -1 -1 ANO7 50_intron 18,.,. 0.5,.,. ANO7/intron/ 0.0000 0.9843 1.1590 6 dominant HG002 HG002 chr2:241239374:CTCTTTT:C 1,.,. 6.57808e-06 0 1 -1 -1 -1 HDLBP 50_intron 24,.,. 0.458333,.,. HDLBP/intron/;HDLBP/non_coding/ 1.0000 0.2000 0.2830 0 dominant HG002 HG002 chr2:241240721:G:T 1,.,. -1 -1 -1 -1 -1 -1 HDLBP 50_intron 26,.,. 0.538462,.,. HDLBP/intron/;HDLBP/non_coding/ 1.0000 0.2000 0.2830 0 dominant HG002 HG002 chr2:241240724:T:G 1,.,. -1 -1 -1 -1 -1 -1 HDLBP 50_intron 26,.,. 0.538462,.,. HDLBP/intron/;HDLBP/non_coding/ 1.0000 0.2000 0.2830 0 dominant HG002 HG002 chr2:241338961:TA:T 1,.,. 1.97847e-05 0 2 -1 -1 -1 SEPTIN2 50_intron 39,.,. 0.282051,.,. SEPTIN2/intron/;SEPTIN2/non_coding/ 0.0000 0.7183 0.9850 5 dominant HG002 HG002 chr2:241352693:A:G 1,.,. -1 -1 -1 -1 -1 -1 SEPTIN2 36_3_prime_utr 34,.,. 0.411765,.,. SEPTIN2/3_prime_utr/ENST00000407971;SEPTIN2/3_prime_utr/ENST00000391971;SEPTIN2/3_prime_utr/ENST00000402092;SEPTIN2/3_prime_utr/ENST00000391973;SEPTIN2/3_prime_utr/ENST00000360051;SEPTIN2/3_prime_utr/ENST00000616972 0.0000 0.7183 0.9850 5 dominant HG002 HG002 chr2:241458548:G:A 1,.,. -1 -1 -1 -1 -1 -1 FARP2 50_intron 26,.,. 0.653846,.,. FARP2/intron/;FARP2/non_coding/ 0.0000 0.8204 1.0050 5 dominant HG002 HG002 chr2:241990357:T:C 1,.,. 8.16415e-05 0 3 -1 -1 -1 25,.,. 0.48,.,. dominant HG002 HG002 chr2:242022026:G:GGAGCTGATGTTCTAGTTTGAGGGTCATGCAGCTGGAGACCCTGAGGGGGAGCTGATGTTCCAGTTTGAGGGCCGTGCAGCTGGAGACCCTGGGGA 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr2:242053658:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr2:242053659:C:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr2:242053660:T:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr3:440008:TATAC:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr3:520182:A:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr3:520183:T:A 1,.,. -1 -1 -1 0.00105116 0 3 43,.,. 0.465116,.,. recessive HG002 HG002 chr3:684233:G:T 2,.,. 0.00118797 1 167 -1 -1 -1 50,.,. 0.98,.,. dominant HG002 HG002 chr3:995626:A:G 1,.,. 0.000269687 0 2 -1 -1 -1 48,.,. 0.479167,.,. recessive HG002 HG002 chr3:1082806:ATGTCATATATGTGTATGTGTGTGTCATATATGTGTATATG:A 2,.,. -1 -1 -1 0.00105116 0 3 58,.,. 0.982759,.,. dominant HG002 HG002 chr3:1156704:CCTTCCTT:C 1,.,. 1.67932e-05 0 2 -1 -1 -1 CNTN6 50_intron 48,.,. 0.395833,.,. CNTN6/intron/ 0.0000 1.1234 1.3160 7 dominant HG002 HG002 chr3:1158854:A:G 1,.,. 1.80531e-05 0 1 -1 -1 -1 CNTN6 50_intron 43,.,. 0.418605,.,. CNTN6/intron/ 0.0000 1.1234 1.3160 7 dominant HG002 HG002 chr3:1386265:T:TTTG 1,.,. -1 -1 -1 -1 -1 -1 CNTN6 50_intron 39,.,. 0.564103,.,. CNTN6/intron/ 0.0000 1.1234 1.3160 7 dominant HG002 HG002 chr3:1386270:T:G 1,.,. -1 -1 -1 -1 -1 -1 CNTN6 50_intron 39,.,. 0.589744,.,. CNTN6/intron/ 0.0000 1.1234 1.3160 7 dominant HG002 HG002 chr3:1464999:TTTC:T 1,.,. 9.25069e-05 0 2 0.000700771 0 2 52,.,. 0.365385,.,. dominant HG002 HG002 chr3:1478338:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr3:1707505:ATAAT:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. recessive HG002 HG002 chr3:1880288:CCAAAAATA:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr3:2327151:G:GTGTGTGTT 1,.,. -1 -1 -1 -1 -1 -1 CNTN4 50_intron 37,.,. 0.432432,.,. CNTN4/intron/ 0.0000 0.5922 0.7270 2 dominant HG002 HG002 chr3:2350575:AAATAG:A 1,.,. -1 -1 -1 -1 -1 -1 CNTN4 50_intron 30,.,. 0.4,.,. CNTN4/intron/ 0.0000 0.5922 0.7270 2 dominant HG002 HG002 chr3:2390901:A:C 1,.,. -1 -1 -1 -1 -1 -1 CNTN4 50_intron 36,.,. 0.444444,.,. CNTN4/intron/ 0.0000 0.5922 0.7270 2 dominant HG002 HG002 chr3:2390904:G:A 1,.,. -1 -1 -1 -1 -1 -1 CNTN4 50_intron 36,.,. 0.444444,.,. CNTN4/intron/ 0.0000 0.5922 0.7270 2 dominant HG002 HG002 chr3:2527409:A:ATGCTGC 1,.,. -1 -1 -1 0.000700771 0 2 CNTN4 50_intron 42,.,. 0.428571,.,. CNTN4/intron/;CNTN4/non_coding/ 0.0000 0.5922 0.7270 2 recessive HG002 HG002 chr3:2591352:CTTTTTTTTTTTTTTTT:C 2,.,. -1 -1 -1 0.0143658 4 41 CNTN4 50_intron 33,.,. 1,.,. CNTN4/intron/;CNTN4/non_coding/ 0.0000 0.5922 0.7270 2 recessive HG002 HG002 chr3:2612012:C:CAG 2,.,. -1 -1 -1 -1 -1 -1 CNTN4 50_intron 37,.,. 1,.,. CNTN4/intron/;CNTN4/non_coding/ 0.0000 0.5922 0.7270 2 recessive HG002 HG002 chr3:2612015:G:A 2,.,. 1.32025e-05 0 2 -1 -1 -1 CNTN4 50_intron 37,.,. 1,.,. CNTN4/intron/;CNTN4/non_coding/ 0.0000 0.5922 0.7270 2 dominant HG002 HG002 chr3:2636937:TTG:T 1,.,. -1 -1 -1 -1 -1 -1 CNTN4 50_intron 38,.,. 0.5,.,. CNTN4/intron/;CNTN4/non_coding/ 0.0000 0.5922 0.7270 2 dominant HG002 HG002 chr3:2636941:T:G 1,.,. -1 -1 -1 0.00105116 0 3 CNTN4 50_intron 37,.,. 0.621622,.,. CNTN4/intron/;CNTN4/non_coding/ 0.0000 0.5922 0.7270 2 dominant HG002 HG002 chr3:2658957:CACAAACAG:C 1,.,. -1 -1 -1 -1 -1 -1 CNTN4 50_intron 41,.,. 0.341463,.,. CNTN4/intron/;CNTN4/non_coding/ 0.0000 0.5922 0.7270 2 dominant HG002 HG002 chr3:2658969:C:G 1,.,. 2.33678e-05 0 1 -1 -1 -1 CNTN4 50_intron 44,.,. 0.318182,.,. CNTN4/intron/;CNTN4/non_coding/ 0.0000 0.5922 0.7270 2 dominant HG002 HG002 chr3:2684587:C:G 1,.,. -1 -1 -1 -1 -1 -1 CNTN4 50_intron 38,.,. 0.526316,.,. CNTN4/intron/;CNTN4/non_coding/ 0.0000 0.5922 0.7270 2 dominant HG002 HG002 chr3:2684588:A:C 1,.,. -1 -1 -1 -1 -1 -1 CNTN4 50_intron 38,.,. 0.526316,.,. CNTN4/intron/;CNTN4/non_coding/ 0.0000 0.5922 0.7270 2 dominant HG002 HG002 chr3:2684589:T:A 1,.,. -1 -1 -1 -1 -1 -1 CNTN4 50_intron 36,.,. 0.555556,.,. CNTN4/intron/;CNTN4/non_coding/ 0.0000 0.5922 0.7270 2 dominant HG002 HG002 chr3:2744104:C:T 1,.,. -1 -1 -1 -1 -1 -1 CNTN4 50_intron 43,.,. 0.418605,.,. CNTN4/intron/;CNTN4/non_coding/ 0.0000 0.5922 0.7270 2 dominant HG002 HG002 chr3:3036460:A:G 1,.,. 6.57315e-06 0 1 -1 -1 -1 CNTN4 50_intron 38,.,. 0.394737,.,. CNTN4/intron/;CNTN4/non_coding/ 0.0000 0.5922 0.7270 2 dominant HG002 HG002 chr3:3048670:A:G 1,.,. 2.62809e-05 0 4 -1 -1 -1 CNTN4 50_intron 47,.,. 0.553191,.,. CNTN4/intron/;CNTN4/non_coding/ 0.0000 0.5922 0.7270 2 dominant HG002 HG002 chr3:3254363:A:T 1,.,. 2.93307e-05 0 1 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr3:3254364:A:T 1,.,. 6.59866e-06 0 1 -1 -1 -1 31,.,. 0.580645,.,. dominant HG002 HG002 chr3:3254367:C:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr3:3254368:A:ATTACTAT 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr3:3254373:T:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr3:3270839:A:G 1,.,. 0.00058309 0 4 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr3:3394057:A:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr3:3394059:T:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr3:3394062:T:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr3:3980249:G:GTTC 1,.,. -1 -1 -1 -1 -1 -1 SUMF1 50_intron 30,.,. 0.4,.,. SUMF1/intron/ 0.0000 0.9862 1.2540 7 Multiple sulfatase deficiency 0.000 dominant HG002 HG002 chr3:3980250:C:T 1,.,. -1 -1 -1 -1 -1 -1 SUMF1 50_intron 30,.,. 0.4,.,. SUMF1/intron/ 0.0000 0.9862 1.2540 7 Multiple sulfatase deficiency 0.000 dominant HG002 HG002 chr3:4273718:A:AGGGAGGATACGGGAGGGAGGATACGGGAGGGGAGGATACGGGAGGGAGGATACGGGAGGGAGGATACGGGAG 1,.,. -1 -1 -1 -1 -1 -1 SUMF1 50_intron 28,.,. 0.357143,.,. SUMF1/intron/ 0.0000 0.9862 1.2540 7 Multiple sulfatase deficiency 0.000 dominant HG002 HG002 chr3:4627658:A:T 1,.,. -1 -1 -1 -1 -1 -1 ITPR1 50_intron 38,.,. 0.526316,.,. ITPR1/intron/;ITPR1/non_coding/ 1.0000 0.2644 0.3250 0 Gillespie syndrome;Spinocerebellar ataxia type 29;Spinocerebellar ataxia type 15/16 0.000 dominant HG002 HG002 chr3:4820018:G:A 1,.,. -1 -1 -1 -1 -1 -1 ITPR1 50_intron 30,.,. 0.466667,.,. ITPR1/intron/;ITPR1/non_coding/ 1.0000 0.2644 0.3250 0 Gillespie syndrome;Spinocerebellar ataxia type 29;Spinocerebellar ataxia type 15/16 0.000 recessive HG002 HG002 chr3:4916285:C:T 2,.,. 3.94083e-05 0 6 -1 -1 -1 54,.,. 1,.,. dominant HG002 HG002 chr3:4917335:G:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr3:4948512:TTGTGTGTGTGTG:T 1,.,. 2.1161e-05 0 3 -1 -1 -1 36,.,. 0.5,.,. recessive HG002 HG002 chr3:5443912:T:TCTGTAAATGG 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr3:5443914:T:G 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr3:5992671:T:TACACACAC 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr3:6064287:G:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr3:6337323:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.604651,.,. dominant HG002 HG002 chr3:6461979:A:C 1,.,. 6.60144e-06 0 1 -1 -1 -1 42,.,. 0.380952,.,. dominant HG002 HG002 chr3:6578626:A:AAAAT 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr3:6612949:TG:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.289474,.,. dominant HG002 HG002 chr3:6647630:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.657143,.,. dominant HG002 HG002 chr3:6695221:C:T 1,.,. 4.45881e-05 0 4 -1 -1 -1 49,.,. 0.489796,.,. dominant HG002 HG002 chr3:6705779:AAAT:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr3:6705783:G:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. recessive HG002 HG002 chr3:7036799:CTTGCTATA:C 2,.,. -1 -1 -1 -1 -1 -1 GRM7 50_intron 28,.,. 1,.,. GRM7/intron/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 recessive HG002 HG002 chr3:7036808:T:C 2,.,. -1 -1 -1 -1 -1 -1 GRM7 50_intron 28,.,. 1,.,. GRM7/intron/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 dominant HG002 HG002 chr3:7055037:G:A 1,.,. 6.58354e-06 0 1 -1 -1 -1 GRM7 50_intron 41,.,. 0.463415,.,. GRM7/intron/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 dominant HG002 HG002 chr3:7064469:T:TATATATATATATATATATATATATACATATATATATATATATATATATATATATATACACACACACATATAC 1,.,. -1 -1 -1 0.00140154 0 4 GRM7 50_intron 39,.,. 0.384615,.,. GRM7/intron/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 dominant HG002 HG002 chr3:7064505:C:CACATAT 1,.,. 9.90079e-06 0 1 -1 -1 -1 GRM7 50_intron 46,.,. 0.478261,.,. GRM7/intron/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 recessive HG002 HG002 chr3:7262927:C:G 2,.,. -1 -1 -1 -1 -1 -1 GRM7 50_intron 43,.,. 1,.,. GRM7/intron/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 recessive HG002 HG002 chr3:7262929:T:C 2,.,. -1 -1 -1 -1 -1 -1 GRM7 50_intron 43,.,. 1,.,. GRM7/intron/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 recessive HG002 HG002 chr3:7262930:A:T 2,.,. -1 -1 -1 -1 -1 -1 GRM7 50_intron 43,.,. 1,.,. GRM7/intron/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 recessive HG002 HG002 chr3:7276819:T:TTG 2,.,. -1 -1 -1 -1 -1 -1 GRM7 50_intron 34,.,. 1,.,. GRM7/intron/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 recessive HG002 HG002 chr3:7276820:G:C 2,.,. -1 -1 -1 -1 -1 -1 GRM7 50_intron 34,.,. 1,.,. GRM7/intron/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 dominant HG002 HG002 chr3:7303001:C:T 1,.,. 7.06644e-06 0 1 -1 -1 -1 GRM7 50_intron 52,.,. 0.442308,.,. GRM7/intron/;GRM7/non_coding/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 dominant HG002 HG002 chr3:7323463:A:C 1,.,. -1 -1 -1 -1 -1 -1 GRM7 50_intron 35,.,. 0.571429,.,. GRM7/intron/;GRM7/non_coding/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 recessive HG002 HG002 chr3:7380367:CCAAAA:C 2,.,. 0.0128205 0 2 -1 -1 -1 GRM7 50_intron 51,.,. 1,.,. GRM7/intron/;GRM7/non_coding/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 recessive HG002 HG002 chr3:7380373:T:A 2,.,. -1 -1 -1 -1 -1 -1 GRM7 50_intron 52,.,. 1,.,. GRM7/intron/;GRM7/non_coding/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 recessive HG002 HG002 chr3:7670724:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 GRM7 50_intron 37,.,. 1,.,. GRM7/intron/;GRM7/non_coding/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 recessive HG002 HG002 chr3:7670725:C:T 2,.,. 6.57047e-06 0 1 -1 -1 -1 GRM7 50_intron 36,.,. 1,.,. GRM7/intron/;GRM7/non_coding/ 0.3678 0.4051 0.5490 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0.000 recessive HG002 HG002 chr3:7888794:T:TCTGTA 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr3:7888795:G:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr3:7938720:ACTG:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr3:7938726:T:C 2,.,. 4.22155e-05 0 2 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr3:8336400:T:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr3:8412307:C:T 1,.,. -1 -1 -1 0.00105116 0 3 30,.,. 0.633333,.,. dominant HG002 HG002 chr3:8426593:G:T 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr3:8426594:C:T 1,.,. 5.33533e-05 0 2 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr3:8426597:C:A 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.434783,.,. dominant HG002 HG002 chr3:8426599:C:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.48,.,. dominant HG002 HG002 chr3:8426600:A:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.48,.,. recessive HG002 HG002 chr3:8678624:G:T 2,.,. 0.00256839 4 83 -1 -1 -1 SSUH2 50_intron 8,.,. 1,.,. SSUH2/intron/;SSUH2/non_coding/ 0.0000 0.8698 1.1400 6 dominant HG002 HG002 chr3:8796590:TATATATATATATATATATACACACACAC:T 1,.,. -1 -1 -1 -1 -1 -1 CAV3;RAD18 50_intron 21,.,. 0.428571,.,. CAV3/non_coding/;RAD18/intron/ 0.0397;;0.0000 0.5663;;0.7781 1.0640;;1.0500 5;;5 Long QT syndrome 9;Elevated circulating creatine kinase concentration;Hypertrophic cardiomyopathy 1;Rippling muscle disease 2;Distal myopathy, Tateyama type 0.000 recessive HG002 HG002 chr3:8974362:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr3:8974363:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr3:8974364:T:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr3:9212072:C:A 1,.,. -1 -1 -1 -1 -1 -1 SRGAP3 50_intron 36,.,. 0.361111,.,. SRGAP3/intron/;SRGAP3/non_coding/ 1.0000 0.3131 0.4090 1 dominant HG002 HG002 chr3:9626854:A:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.289474,.,. dominant HG002 HG002 chr3:9715898:CCCTATGGGCCTCACT:C 1,.,. -1 -1 -1 -1 -1 -1 CPNE9 50_intron 31,.,. 0.580645,.,. CPNE9/intron/ 0.0000 0.6906 0.8630 3 dominant HG002 HG002 chr3:9715914:T:A 1,.,. -1 -1 -1 -1 -1 -1 CPNE9 50_intron 31,.,. 0.580645,.,. CPNE9/intron/ 0.0000 0.6906 0.8630 3 dominant HG002 HG002 chr3:10043203:CAGAGTT:C 1,.,. 1.31548e-05 0 2 -1 -1 -1 FANCD2 50_intron 32,.,. 0.28125,.,. FANCD2/intron/ 0.0000 0.6524 0.7770 3 Fanconi anemia complementation group D2 0.000 recessive HG002 HG002 chr3:10211446:G:T 2,.,. -1 -1 -1 -1 -1 -1 IRAK2 50_intron 24,.,. 1,.,. IRAK2/intron/ 0.0000 0.7585 0.9620 4 recessive HG002 HG002 chr3:10211447:C:A 2,.,. -1 -1 -1 -1 -1 -1 IRAK2 50_intron 24,.,. 1,.,. IRAK2/intron/ 0.0000 0.7585 0.9620 4 dominant HG002 HG002 chr3:10239499:ACCCTGGCCAGATCACC:A 1,.,. -1 -1 -1 -1 -1 -1 IRAK2 50_intron 34,.,. 0.5,.,. IRAK2/intron/ 0.0000 0.7585 0.9620 4 dominant HG002 HG002 chr3:10239516:T:G 1,.,. -1 -1 -1 -1 -1 -1 IRAK2 50_intron 33,.,. 0.484848,.,. IRAK2/intron/ 0.0000 0.7585 0.9620 4 recessive HG002 HG002 chr3:10451432:C:T 2,.,. 0.00201547 3 307 0.00140154 1 4 ATP2B2 50_intron 30,.,. 1,.,. ATP2B2/intron/;ATP2B2/non_coding/ 1.0000 0.1234 0.1900 0 Hearing loss, autosomal dominant 82 0.000 recessive HG002 HG002 chr3:10461034:T:C 2,.,. 0.00201594 3 307 0.00140154 1 4 ATP2B2 50_intron 33,.,. 1,.,. ATP2B2/intron/;ATP2B2/non_coding/ 1.0000 0.1234 0.1900 0 Hearing loss, autosomal dominant 82 0.000 recessive HG002 HG002 chr3:10811799:TCCAAAAAAAAAAAAAAAA:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chr3:11114004:C:T 1,.,. 2.63224e-05 0 4 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr3:11142915:GA:G 1,.,. -1 -1 -1 0.000700771 0 2 HRH1 50_intron 35,.,. 0.542857,.,. HRH1/intron/ 0.0672 0.5443 1.0740 5 dominant HG002 HG002 chr3:11240639:TTAAG:T 1,.,. -1 -1 -1 -1 -1 -1 HRH1 50_intron 42,.,. 0.571429,.,. HRH1/intron/ 0.0672 0.5443 1.0740 5 dominant HG002 HG002 chr3:11240644:C:G 1,.,. -1 -1 -1 -1 -1 -1 HRH1 50_intron 42,.,. 0.571429,.,. HRH1/intron/ 0.0672 0.5443 1.0740 5 dominant HG002 HG002 chr3:11441667:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 ATG7 50_intron 29,.,. 0.37931,.,. ATG7/intron/ 0.0000 0.7983 0.9850 5 Spinocerebellar ataxia, autosomal recessive 31 0.000 dominant HG002 HG002 chr3:11441671:T:A 1,.,. 1.11062e-05 0 1 -1 -1 -1 ATG7 50_intron 32,.,. 0.46875,.,. ATG7/intron/ 0.0000 0.7983 0.9850 5 Spinocerebellar ataxia, autosomal recessive 31 0.000 recessive HG002 HG002 chr3:11595855:A:G 2,.,. -1 -1 -1 0.0108619 0 31 VGLL4 50_intron 27,.,. 1,.,. VGLL4/intron/ 0.4862 0.3577 0.8180 3 recessive HG002 HG002 chr3:11658024:TTAAAAA:T 2,.,. 0.0125 0 1 -1 -1 -1 VGLL4 50_intron 26,.,. 1,.,. VGLL4/intron/ 0.4862 0.3577 0.8180 3 recessive HG002 HG002 chr3:11658032:G:A 2,.,. -1 -1 -1 -1 -1 -1 VGLL4 50_intron 26,.,. 1,.,. VGLL4/intron/ 0.4862 0.3577 0.8180 3 recessive HG002 HG002 chr3:11659658:G:A 2,.,. -1 -1 -1 -1 -1 -1 VGLL4 50_intron 25,.,. 1,.,. VGLL4/intron/ 0.4862 0.3577 0.8180 3 recessive HG002 HG002 chr3:11659659:G:GGTAT 2,.,. -1 -1 -1 -1 -1 -1 VGLL4 50_intron 25,.,. 1,.,. VGLL4/intron/ 0.4862 0.3577 0.8180 3 recessive HG002 HG002 chr3:11870786:G:T 2,.,. -1 -1 -1 -1 -1 -1 FANCD2P2 53_non_coding 37,.,. 1,.,. FANCD2P2/non_coding/ dominant HG002 HG002 chr3:11873030:G:C 1,.,. -1 -1 -1 -1 -1 -1 FANCD2P2 53_non_coding 41,.,. 0.585366,.,. FANCD2P2/non_coding/ recessive HG002 HG002 chr3:11995297:CCAT:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr3:11995302:A:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:12487712:TTAG:T 2,.,. -1 -1 -1 -1 -1 -1 TSEN2 50_intron 41,.,. 1,.,. TSEN2/intron/;TSEN2/non_coding/ 0.0000 0.9578 1.2120 6 Pontocerebellar hypoplasia type 2B 0.000 recessive HG002 HG002 chr3:12487716:T:G 2,.,. -1 -1 -1 -1 -1 -1 TSEN2 50_intron 41,.,. 1,.,. TSEN2/intron/;TSEN2/non_coding/ 0.0000 0.9578 1.2120 6 Pontocerebellar hypoplasia type 2B 0.000 dominant HG002 HG002 chr3:12692489:A:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr3:12703152:T:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.484848,.,. recessive HG002 HG002 chr3:12823287:G:T 2,.,. -1 -1 -1 0.00105116 0 3 CAND2 50_intron 25,.,. 1,.,. CAND2/intron/ 0.0000 0.6575 0.8150 3 dominant HG002 HG002 chr3:13181286:C:A 1,.,. -1 -1 -1 -1 -1 -1 IQSEC1 50_intron 27,.,. 0.444444,.,. IQSEC1/intron/ 0.9962 0.3476 0.4710 1 Intellectual developmental disorder with short stature and behavioral abnormalities 0.000 dominant HG002 HG002 chr3:13410927:A:T 1,.,. -1 -1 -1 -1 -1 -1 NUP210 50_intron 29,.,. 0.448276,.,. NUP210/intron/;NUP210/non_coding/ 0.0000 0.7793 0.8940 4 dominant HG002 HG002 chr3:13418524:GAGTTCTCCTTGGTCT:G 1,.,. -1 -1 -1 -1 -1 -1 NUP210 50_intron 37,.,. 0.567568,.,. NUP210/intron/;NUP210/non_coding/ 0.0000 0.7793 0.8940 4 dominant HG002 HG002 chr3:13418541:G:C 1,.,. -1 -1 -1 -1 -1 -1 NUP210 50_intron 37,.,. 0.567568,.,. NUP210/intron/;NUP210/non_coding/ 0.0000 0.7793 0.8940 4 dominant HG002 HG002 chr3:13456327:T:A 1,.,. -1 -1 -1 0.00105116 0 3 24,.,. 0.5,.,. dominant HG002 HG002 chr3:13647197:C:T 1,.,. 1.97169e-05 0 3 -1 -1 -1 25,.,. 0.32,.,. recessive HG002 HG002 chr3:13683323:TCTCACACACA:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr3:13705090:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr3:13705091:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr3:13705092:T:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chr3:14276348:GCCA:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr3:14276352:T:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr3:14276353:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. recessive HG002 HG002 chr3:14311427:CCA:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr3:14602311:CTG:C 2,.,. 6.57981e-06 0 1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr3:14602314:T:G 2,.,. 0.02 0 2 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr3:14854424:T:TATTGATTG 1,.,. -1 -1 -1 -1 -1 -1 FGD5 50_intron 27,.,. 0.481481,.,. FGD5/intron/ 1.0000 0.2179 0.3000 0 recessive HG002 HG002 chr3:15062134:T:G 2,.,. -1 -1 -1 -1 -1 -1 MRPS25 50_intron 28,.,. 1,.,. MRPS25/intron/ 0.0003 0.7524 1.1960 6 Combined oxidative phosphorylation deficiency 50 0.000 recessive HG002 HG002 chr3:15062136:C:G 2,.,. 0.00732601 0 4 0.00105116 0 3 MRPS25 50_intron 27,.,. 1,.,. MRPS25/intron/ 0.0003 0.7524 1.1960 6 Combined oxidative phosphorylation deficiency 50 0.000 recessive HG002 HG002 chr3:15062231:GGC:G 2,.,. -1 -1 -1 -1 -1 -1 MRPS25 50_intron 30,.,. 1,.,. MRPS25/intron/ 0.0003 0.7524 1.1960 6 Combined oxidative phosphorylation deficiency 50 0.000 recessive HG002 HG002 chr3:15062236:G:C 2,.,. -1 -1 -1 -1 -1 -1 MRPS25 50_intron 29,.,. 1,.,. MRPS25/intron/ 0.0003 0.7524 1.1960 6 Combined oxidative phosphorylation deficiency 50 0.000 dominant HG002 HG002 chr3:15072385:C:CT 1,.,. 6.57177e-06 0 1 -1 -1 -1 RBSN 36_3_prime_utr 36,.,. 0.388889,.,. RBSN/3_prime_utr/ENST00000253699 0.0000 0.5581 0.7400 3 Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities;Kariminejad neurodevelopmental syndrome dominant HG002 HG002 chr3:15112880:G:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr3:15156155:C:T 1,.,. 6.57644e-06 0 1 -1 -1 -1 COL6A4P1 53_non_coding 33,.,. 0.363636,.,. COL6A4P1/non_coding/ dominant HG002 HG002 chr3:15220686:G:T 1,.,. 6.56927e-06 0 1 -1 -1 -1 CAPN7 50_intron 48,.,. 0.4375,.,. CAPN7/intron/ 0.0000 0.6468 0.8820 4 dominant HG002 HG002 chr3:15592530:A:ATGTATACACATGTACGCACACGTGTGCGTGTATACACATGTACGCACACGTGTGCGTGTATACACATGTACGCACACGTGTGCGTGTATACACATGTACGCACACGTGTGCGTGTATACACATGTACGCACACGTGTGCG 1,.,. -1 -1 -1 -1 -1 -1 HACL1 50_intron 43,.,. 0.418605,.,. HACL1/intron/ 0.0000 1.0859 1.7090 8 recessive HG002 HG002 chr3:15742675:T:G 2,.,. -1 -1 -1 0.0112123 0 32 ANKRD28 50_intron 22,.,. 1,.,. ANKRD28/intron/;ANKRD28/non_coding/ 0.9992 0.3337 0.4550 1 recessive HG002 HG002 chr3:15860048:CTG:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr3:15890466:CTG:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr3:15890470:A:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr3:16079780:C:T 1,.,. 6.57203e-06 0 1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr3:16081380:C:G 1,.,. 6.57117e-06 0 1 -1 -1 -1 46,.,. 0.543478,.,. dominant HG002 HG002 chr3:16363976:C:T 1,.,. 6.56892e-06 0 1 -1 -1 -1 RFTN1 50_intron 31,.,. 0.483871,.,. RFTN1/intron/;RFTN1/non_coding/ 0.0001 0.5815 0.8240 3 dominant HG002 HG002 chr3:16393082:T:A 1,.,. -1 -1 -1 -1 -1 -1 RFTN1 50_intron 43,.,. 0.511628,.,. RFTN1/intron/;RFTN1/non_coding/ 0.0001 0.5815 0.8240 3 dominant HG002 HG002 chr3:16668721:TGG:T 1,.,. -1 -1 -1 -1 -1 -1 DAZL 50_intron 50,.,. 0.56,.,. DAZL/intron/ 1.0000 0.0422 0.2000 0 dominant HG002 HG002 chr3:16668725:C:T 1,.,. -1 -1 -1 -1 -1 -1 DAZL 50_intron 50,.,. 0.56,.,. DAZL/intron/ 1.0000 0.0422 0.2000 0 dominant HG002 HG002 chr3:16668727:G:T 1,.,. -1 -1 -1 -1 -1 -1 DAZL 50_intron 50,.,. 0.56,.,. DAZL/intron/ 1.0000 0.0422 0.2000 0 dominant HG002 HG002 chr3:16668728:C:G 1,.,. -1 -1 -1 -1 -1 -1 DAZL 50_intron 50,.,. 0.56,.,. DAZL/intron/ 1.0000 0.0422 0.2000 0 recessive HG002 HG002 chr3:16699716:C:CATG 2,.,. 6.62515e-06 0 1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:16739660:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr3:16739661:C:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr3:16923721:C:T 1,.,. 1.31473e-05 0 2 -1 -1 -1 PLCL2 50_intron 40,.,. 0.55,.,. PLCL2/non_coding/;PLCL2/intron/ 1.0000 0.0289 0.0910 0 dominant HG002 HG002 chr3:16928416:G:A 1,.,. 1.31387e-05 0 2 -1 -1 -1 PLCL2 50_intron 37,.,. 0.513514,.,. PLCL2/non_coding/;PLCL2/intron/ 1.0000 0.0289 0.0910 0 recessive HG002 HG002 chr3:16929074:A:G 2,.,. -1 -1 -1 -1 -1 -1 PLCL2 50_intron 40,.,. 1,.,. PLCL2/non_coding/;PLCL2/intron/ 1.0000 0.0289 0.0910 0 recessive HG002 HG002 chr3:16929098:G:T 2,.,. -1 -1 -1 -1 -1 -1 PLCL2 50_intron 40,.,. 1,.,. PLCL2/non_coding/;PLCL2/intron/ 1.0000 0.0289 0.0910 0 recessive HG002 HG002 chr3:16929099:T:TA 2,.,. -1 -1 -1 -1 -1 -1 PLCL2 50_intron 39,.,. 1,.,. PLCL2/non_coding/;PLCL2/intron/ 1.0000 0.0289 0.0910 0 recessive HG002 HG002 chr3:16929126:C:G 2,.,. -1 -1 -1 -1 -1 -1 PLCL2 50_intron 40,.,. 1,.,. PLCL2/non_coding/;PLCL2/intron/ 1.0000 0.0289 0.0910 0 recessive HG002 HG002 chr3:16929213:C:G 2,.,. -1 -1 -1 -1 -1 -1 PLCL2 50_intron 41,.,. 1,.,. PLCL2/non_coding/;PLCL2/intron/ 1.0000 0.0289 0.0910 0 recessive HG002 HG002 chr3:16929214:T:C 2,.,. -1 -1 -1 -1 -1 -1 PLCL2 50_intron 41,.,. 1,.,. PLCL2/non_coding/;PLCL2/intron/ 1.0000 0.0289 0.0910 0 recessive HG002 HG002 chr3:16929215:A:T 2,.,. -1 -1 -1 -1 -1 -1 PLCL2 50_intron 41,.,. 1,.,. PLCL2/non_coding/;PLCL2/intron/ 1.0000 0.0289 0.0910 0 dominant HG002 HG002 chr3:17330877:A:G 1,.,. -1 -1 -1 -1 -1 -1 TBC1D5 50_intron 50,.,. 0.4,.,. TBC1D5/intron/;TBC1D5/non_coding/ 0.0000 0.6918 0.8700 4 dominant HG002 HG002 chr3:17655592:A:G 1,.,. -1 -1 -1 -1 -1 -1 TBC1D5 50_intron 45,.,. 0.488889,.,. TBC1D5/intron/;TBC1D5/non_coding/ 0.0000 0.6918 0.8700 4 dominant HG002 HG002 chr3:17684968:C:A 1,.,. -1 -1 -1 -1 -1 -1 TBC1D5 50_intron 48,.,. 0.416667,.,. TBC1D5/intron/;TBC1D5/non_coding/ 0.0000 0.6918 0.8700 4 dominant HG002 HG002 chr3:18759764:A:ACATGAAT 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr3:18759765:G:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr3:19767420:TTGAGC:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr3:19767426:T:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr3:19892883:A:AAATAAAAT 1,.,. -1 -1 -1 -1 -1 -1 EFHB 50_intron 43,.,. 0.511628,.,. EFHB/intron/;EFHB/non_coding/ 0.0000 1.0282 1.2440 7 dominant HG002 HG002 chr3:19971210:A:AAC 1,.,. 9.40663e-06 0 1 -1 -1 -1 RAB5A 50_intron 37,.,. 0.459459,.,. RAB5A/intron/;RAB5A/non_coding/ 0.9956 0.1529 0.3950 0 dominant HG002 HG002 chr3:20015451:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr3:20245146:C:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr3:20418839:T:TCA 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr3:20418840:A:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr3:20950063:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr3:20997807:A:ATGTGTG 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.529412,.,. dominant HG002 HG002 chr3:21128568:C:A 1,.,. 7.27193e-05 0 4 0.00140154 0 4 40,.,. 0.35,.,. dominant HG002 HG002 chr3:21128569:A:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.309524,.,. dominant HG002 HG002 chr3:21618275:C:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF385D 50_intron 52,.,. 0.596154,.,. ZNF385D/intron/;ZNF385D/non_coding/ 0.6623 0.3694 0.6110 2 recessive HG002 HG002 chr3:21732030:G:T 2,.,. -1 -1 -1 0.00315347 4 9 ZNF385D 50_intron 40,.,. 1,.,. ZNF385D/intron/;ZNF385D/non_coding/ 0.6623 0.3694 0.6110 2 dominant HG002 HG002 chr3:21752013:C:CCT 1,.,. 3.71637e-05 0 2 -1 -1 -1 ZNF385D 50_intron 38,.,. 0.421053,.,. ZNF385D/intron/;ZNF385D/non_coding/ 0.6623 0.3694 0.6110 2 recessive HG002 HG002 chr3:21804861:ACCACTAT:A 2,.,. 1.31952e-05 0 2 -1 -1 -1 ZNF385D 50_intron 43,.,. 1,.,. ZNF385D/intron/ 0.6623 0.3694 0.6110 2 recessive HG002 HG002 chr3:21804870:A:C 2,.,. 8.52733e-05 0 2 -1 -1 -1 ZNF385D 50_intron 43,.,. 1,.,. ZNF385D/intron/ 0.6623 0.3694 0.6110 2 recessive HG002 HG002 chr3:21804871:T:C 2,.,. -1 -1 -1 -1 -1 -1 ZNF385D 50_intron 43,.,. 1,.,. ZNF385D/intron/ 0.6623 0.3694 0.6110 2 dominant HG002 HG002 chr3:21945121:C:CGT 1,.,. 3.59673e-05 0 4 0.000700771 0 2 ZNF385D 50_intron 34,.,. 0.617647,.,. ZNF385D/intron/;ZNF385D/non_coding/ 0.6623 0.3694 0.6110 2 dominant HG002 HG002 chr3:21983157:T:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF385D 50_intron 55,.,. 0.345455,.,. ZNF385D/intron/;ZNF385D/non_coding/ 0.6623 0.3694 0.6110 2 dominant HG002 HG002 chr3:21983158:TATTTTATTA:T 1,.,. 2.65414e-05 0 2 -1 -1 -1 ZNF385D 50_intron 55,.,. 0.345455,.,. ZNF385D/intron/;ZNF385D/non_coding/ 0.6623 0.3694 0.6110 2 dominant HG002 HG002 chr3:21999779:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 ZNF385D 50_intron 57,.,. 0.438596,.,. ZNF385D/intron/;ZNF385D/non_coding/ 0.6623 0.3694 0.6110 2 dominant HG002 HG002 chr3:22056327:C:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF385D 50_intron 40,.,. 0.55,.,. ZNF385D/intron/;ZNF385D/non_coding/ 0.6623 0.3694 0.6110 2 dominant HG002 HG002 chr3:22478227:G:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.461538,.,. dominant HG002 HG002 chr3:22530768:A:T 1,.,. 2.6599e-05 0 3 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr3:22541732:T:TATATACACAC 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.469388,.,. recessive HG002 HG002 chr3:23362939:AACAGGC:A 2,.,. -1 -1 -1 -1 -1 -1 UBE2E2 50_intron 50,.,. 0.98,.,. UBE2E2/intron/ 0.9814 0.2491 0.4920 1 recessive HG002 HG002 chr3:23362946:T:C 2,.,. -1 -1 -1 -1 -1 -1 UBE2E2 50_intron 49,.,. 1,.,. UBE2E2/intron/ 0.9814 0.2491 0.4920 1 dominant HG002 HG002 chr3:24007385:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.357143,.,. dominant HG002 HG002 chr3:24051457:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr3:24051458:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr3:24128262:T:G 1,.,. 6.57142e-06 0 1 -1 -1 -1 THRB 50_intron 34,.,. 0.470588,.,. THRB/intron/ 0.9992 0.2656 0.4300 1 Selective pituitary resistance to thyroid hormone;Thyroid hormone resistance, generalized, autosomal recessive;Thyroid hormone resistance, generalized, autosomal dominant 0.000 dominant HG002 HG002 chr3:24139387:T:TTTC 1,.,. -1 -1 -1 -1 -1 -1 THRB 50_intron 38,.,. 0.368421,.,. THRB/intron/ 0.9992 0.2656 0.4300 1 Selective pituitary resistance to thyroid hormone;Thyroid hormone resistance, generalized, autosomal recessive;Thyroid hormone resistance, generalized, autosomal dominant 0.000 recessive HG002 HG002 chr3:24645983:ATTTTT:A 2,.,. -1 -1 -1 0.0273301 3 78 30,.,. 1,.,. dominant HG002 HG002 chr3:24813612:T:TTTC 1,.,. 9.36575e-06 0 1 -1 -1 -1 35,.,. 0.485714,.,. recessive HG002 HG002 chr3:24880001:T:TAATGCAGTA 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr3:24880006:G:C 2,.,. 1.31877e-05 0 2 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr3:24989397:C:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr3:24989398:A:G 2,.,. 2.39006e-05 0 1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr3:25193649:T:G 1,.,. 6.57566e-06 0 1 -1 -1 -1 RARB 50_intron 47,.,. 0.574468,.,. RARB/intron/ 0.9941 0.3180 0.4770 1 Microphthalmia, syndromic 12 0.000 dominant HG002 HG002 chr3:25438327:GCCCAGAT:G 1,.,. -1 -1 -1 -1 -1 -1 RARB 50_intron 21,.,. 0.238095,.,. RARB/intron/;RARB/non_coding/ 0.9941 0.3180 0.4770 1 Microphthalmia, syndromic 12 0.000 dominant HG002 HG002 chr3:25524242:C:A 1,.,. -1 -1 -1 -1 -1 -1 RARB 50_intron 44,.,. 0.386364,.,. RARB/intron/;RARB/non_coding/ 0.9941 0.3180 0.4770 1 Microphthalmia, syndromic 12 0.000 dominant HG002 HG002 chr3:25524243:A:G 1,.,. -1 -1 -1 -1 -1 -1 RARB 50_intron 44,.,. 0.386364,.,. RARB/intron/;RARB/non_coding/ 0.9941 0.3180 0.4770 1 Microphthalmia, syndromic 12 0.000 dominant HG002 HG002 chr3:25524244:G:A 1,.,. -1 -1 -1 -1 -1 -1 RARB 50_intron 43,.,. 0.395349,.,. RARB/intron/;RARB/non_coding/ 0.9941 0.3180 0.4770 1 Microphthalmia, syndromic 12 0.000 dominant HG002 HG002 chr3:25929850:CCGTG:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.657895,.,. dominant HG002 HG002 chr3:25929858:A:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.648649,.,. dominant HG002 HG002 chr3:26026510:GTGTGTGTC:G 1,.,. 5.61293e-05 0 2 -1 -1 -1 34,.,. 0.5,.,. recessive HG002 HG002 chr3:26518049:C:CTTAGTGGGGT 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr3:26518050:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr3:26518051:A:C 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. dominant HG002 HG002 chr3:26867749:GGTTTTCA:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr3:26867757:G:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr3:26880342:AGAGGACATGAAC:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.6,.,. dominant HG002 HG002 chr3:26880355:A:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.615385,.,. dominant HG002 HG002 chr3:26891614:A:ATC 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr3:27099989:GGGTTA:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr3:27099995:T:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr3:27254629:GGA:G 1,.,. -1 -1 -1 -1 -1 -1 NEK10 50_intron 39,.,. 0.589744,.,. NEK10/intron/;NEK10/non_coding/ 0.0000 0.7895 0.9970 5 Ciliary dyskinesia, primary, 44 0.000 dominant HG002 HG002 chr3:27254632:G:A 1,.,. -1 -1 -1 -1 -1 -1 NEK10 50_intron 39,.,. 0.589744,.,. NEK10/intron/;NEK10/non_coding/ 0.0000 0.7895 0.9970 5 Ciliary dyskinesia, primary, 44 0.000 dominant HG002 HG002 chr3:27446886:T:G 1,.,. 5.86132e-05 0 2 -1 -1 -1 SLC4A7 50_intron 42,.,. 0.404762,.,. SLC4A7/intron/;SLC4A7/non_coding/ 0.6053 0.3906 0.5580 1 dominant HG002 HG002 chr3:27802864:GGTC:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr3:27802868:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr3:27883886:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr3:28099414:C:A 1,.,. 1.97233e-05 0 3 -1 -1 -1 56,.,. 0.553571,.,. dominant HG002 HG002 chr3:28374092:A:C 1,.,. -1 -1 -1 -1 -1 -1 ZCWPW2;AC098650.1 50_intron 43,.,. 0.534884,.,. ZCWPW2/intron/;AC098650.1/intron/ 0.0000 1.0090 1.3270 7 dominant HG002 HG002 chr3:28567647:G:C 1,.,. -1 -1 -1 -1 -1 -1 AC098650.1 50_intron 47,.,. 0.553191,.,. AC098650.1/intron/ dominant HG002 HG002 chr3:28657669:C:T 1,.,. -1 -1 -1 -1 -1 -1 AC098650.1;RBMS3 50_intron 38,.,. 0.421053,.,. AC098650.1/intron/;RBMS3/non_coding/;RBMS3/intron/ 0.2537 0.4127 0.5890 2 dominant HG002 HG002 chr3:28847634:C:T 1,.,. -1 -1 -1 0.00105116 0 3 AC098650.1;RBMS3 50_intron 52,.,. 0.384615,.,. AC098650.1/intron/;RBMS3/intron/;RBMS3/non_coding/ 0.2537 0.4127 0.5890 2 recessive HG002 HG002 chr3:28955152:TAAAA:T 2,.,. -1 -1 -1 -1 -1 -1 AC098650.1;RBMS3 50_intron 44,.,. 1,.,. AC098650.1/intron/;RBMS3/intron/;RBMS3/non_coding/ 0.2537 0.4127 0.5890 2 recessive HG002 HG002 chr3:28955157:T:C 2,.,. -1 -1 -1 -1 -1 -1 AC098650.1;RBMS3 50_intron 44,.,. 1,.,. AC098650.1/intron/;RBMS3/intron/;RBMS3/non_coding/ 0.2537 0.4127 0.5890 2 recessive HG002 HG002 chr3:28955158:A:C 2,.,. -1 -1 -1 -1 -1 -1 AC098650.1;RBMS3 50_intron 44,.,. 1,.,. AC098650.1/intron/;RBMS3/intron/;RBMS3/non_coding/ 0.2537 0.4127 0.5890 2 recessive HG002 HG002 chr3:28955159:G:T 2,.,. -1 -1 -1 -1 -1 -1 AC098650.1;RBMS3 50_intron 44,.,. 1,.,. AC098650.1/intron/;RBMS3/intron/;RBMS3/non_coding/ 0.2537 0.4127 0.5890 2 dominant HG002 HG002 chr3:29114124:G:T 1,.,. -1 -1 -1 -1 -1 -1 AC098650.1;RBMS3 50_intron 43,.,. 0.465116,.,. AC098650.1/intron/;RBMS3/intron/;RBMS3/non_coding/ 0.2537 0.4127 0.5890 2 dominant HG002 HG002 chr3:29535697:T:C 1,.,. -1 -1 -1 -1 -1 -1 AC098650.1;RBMS3 50_intron 44,.,. 0.454545,.,. AC098650.1/intron/;RBMS3/intron/;RBMS3/non_coding/ 0.2537 0.4127 0.5890 2 dominant HG002 HG002 chr3:29535698:G:T 1,.,. -1 -1 -1 -1 -1 -1 AC098650.1;RBMS3 50_intron 44,.,. 0.454545,.,. AC098650.1/intron/;RBMS3/intron/;RBMS3/non_coding/ 0.2537 0.4127 0.5890 2 dominant HG002 HG002 chr3:29535699:A:C 1,.,. -1 -1 -1 -1 -1 -1 AC098650.1;RBMS3 50_intron 44,.,. 0.454545,.,. AC098650.1/intron/;RBMS3/intron/;RBMS3/non_coding/ 0.2537 0.4127 0.5890 2 dominant HG002 HG002 chr3:29535700:G:A 1,.,. -1 -1 -1 -1 -1 -1 AC098650.1;RBMS3 50_intron 43,.,. 0.465116,.,. AC098650.1/intron/;RBMS3/intron/;RBMS3/non_coding/ 0.2537 0.4127 0.5890 2 dominant HG002 HG002 chr3:29624852:T:C 1,.,. -1 -1 -1 -1 -1 -1 AC098650.1;RBMS3 50_intron 43,.,. 0.325581,.,. AC098650.1/intron/;RBMS3/intron/;RBMS3/non_coding/ 0.2537 0.4127 0.5890 2 dominant HG002 HG002 chr3:29995576:CTCT:C 1,.,. -1 -1 -1 -1 -1 -1 RBMS3 50_intron 45,.,. 0.333333,.,. RBMS3/intron/ 0.2537 0.4127 0.5890 2 dominant HG002 HG002 chr3:29995580:A:C 1,.,. -1 -1 -1 -1 -1 -1 RBMS3 50_intron 45,.,. 0.333333,.,. RBMS3/intron/ 0.2537 0.4127 0.5890 2 dominant HG002 HG002 chr3:30034784:AAGAAAGAGAG:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. recessive HG002 HG002 chr3:30083299:CCTT:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr3:30083305:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr3:30547854:CTGACAGTGCCAT:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr3:30547867:T:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. recessive HG002 HG002 chr3:30599405:C:CTTTGAGAGACA 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr3:30599408:G:A 2,.,. 6.58354e-06 0 1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr3:31470511:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.634146,.,. dominant HG002 HG002 chr3:31507560:C:T 1,.,. 1.9698e-05 0 3 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr3:31601431:G:A 1,.,. 6.57186e-06 0 1 -1 -1 -1 STT3B 50_intron 37,.,. 0.540541,.,. STT3B/non_coding/;STT3B/intron/ 0.9933 0.3269 0.4800 1 STT3B-congenital disorder of glycosylation 0.000 recessive HG002 HG002 chr3:31607752:G:GGTT 2,.,. 0.00241277 0 78 -1 -1 -1 STT3B 50_intron 36,.,. 1,.,. STT3B/non_coding/;STT3B/intron/ 0.9933 0.3269 0.4800 1 STT3B-congenital disorder of glycosylation 0.000 recessive HG002 HG002 chr3:32352186:C:A 2,.,. 0.0198495 0 211 0.00385424 1 11 CMTM8 50_intron 40,.,. 1,.,. CMTM8/intron/ 0.0265 0.6053 1.1370 6 dominant HG002 HG002 chr3:32403108:CTTAAG:C 1,.,. -1 -1 -1 -1 -1 -1 CMTM7 50_intron 38,.,. 0.368421,.,. CMTM7/intron/ 0.3432 0.4039 0.7590 3 dominant HG002 HG002 chr3:32404149:TTTCTTTTTTTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 CMTM7 50_intron 34,.,. 0.235294,.,. CMTM7/intron/ 0.3432 0.4039 0.7590 3 dominant HG002 HG002 chr3:32404164:T:C 1,.,. -1 -1 -1 -1 -1 -1 CMTM7 50_intron 33,.,. 0.242424,.,. CMTM7/intron/ 0.3432 0.4039 0.7590 3 dominant HG002 HG002 chr3:32519356:G:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.6,.,. dominant HG002 HG002 chr3:32519358:A:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr3:32519371:A:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.622222,.,. recessive HG002 HG002 chr3:32745471:T:C 2,.,. -1 -1 -1 -1 -1 -1 CNOT10 50_intron 34,.,. 1,.,. CNOT10/intron/ 0.9999 0.2544 0.4050 1 recessive HG002 HG002 chr3:32766361:G:A 2,.,. -1 -1 -1 -1 -1 -1 CNOT10 50_intron 7,.,. 1,.,. CNOT10/intron/;CNOT10/non_coding/ 0.9999 0.2544 0.4050 1 dominant HG002 HG002 chr3:32873060:T:TCTCC 1,.,. -1 -1 -1 -1 -1 -1 TRIM71 50_intron 17,.,. 0.705882,.,. TRIM71/intron/ 1.0000 0.1575 0.2750 0 Hydrocephalus, congenital communicating, 1 0.000 dominant HG002 HG002 chr3:32979868:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.344828,.,. dominant HG002 HG002 chr3:33056294:A:T 1,.,. -1 -1 -1 -1 -1 -1 GLB1 50_intron 37,.,. 0.513514,.,. GLB1/intron/;GLB1/non_coding/ 0.0000 0.7534 0.9380 4 Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 3 0.000 recessive HG002 HG002 chr3:34250905:T:A 2,.,. -1 -1 -1 0.00560617 0 16 38,.,. 1,.,. dominant HG002 HG002 chr3:34678157:G:A 1,.,. 8.97881e-05 0 3 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr3:34704036:T:A 1,.,. 3.32094e-05 0 2 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr3:34741546:A:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr3:36066946:C:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr3:36543560:TAGC:T 1,.,. -1 -1 -1 -1 -1 -1 STAC 50_intron 43,.,. 0.465116,.,. STAC/intron/ 0.0000 0.9006 1.1800 6 dominant HG002 HG002 chr3:36543564:A:G 1,.,. -1 -1 -1 -1 -1 -1 STAC 50_intron 43,.,. 0.465116,.,. STAC/intron/ 0.0000 0.9006 1.1800 6 dominant HG002 HG002 chr3:36701868:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr3:36926098:C:T 1,.,. -1 -1 -1 -1 -1 -1 TRANK1 50_intron 36,.,. 0.5,.,. TRANK1/intron/ 0.0000 0.7006 0.7930 3 recessive HG002 HG002 chr3:37071474:C:CGAGCCTTGGCTTCCCAA 2,.,. -1 -1 -1 -1 -1 -1 LRRFIP2 50_intron 28,.,. 1,.,. LRRFIP2/intron/ 0.0000 0.9247 1.1440 6 recessive HG002 HG002 chr3:37071475:C:A 2,.,. -1 -1 -1 -1 -1 -1 LRRFIP2 50_intron 27,.,. 1,.,. LRRFIP2/intron/ 0.0000 0.9247 1.1440 6 dominant HG002 HG002 chr3:37165813:G:A 1,.,. -1 -1 -1 -1 -1 -1 LRRFIP2 50_intron 24,.,. 0.291667,.,. LRRFIP2/intron/;LRRFIP2/non_coding/ 0.0000 0.9247 1.1440 6 dominant HG002 HG002 chr3:37786614:A:C 1,.,. -1 -1 -1 -1 -1 -1 ITGA9 50_intron 39,.,. 0.512821,.,. ITGA9/intron/ 0.0110 0.4355 0.5550 1 dominant HG002 HG002 chr3:37786615:C:A 1,.,. -1 -1 -1 -1 -1 -1 ITGA9 50_intron 38,.,. 0.526316,.,. ITGA9/intron/ 0.0110 0.4355 0.5550 1 dominant HG002 HG002 chr3:37786617:A:C 1,.,. 6.65876e-06 0 1 -1 -1 -1 ITGA9 50_intron 39,.,. 0.512821,.,. ITGA9/intron/ 0.0110 0.4355 0.5550 1 dominant HG002 HG002 chr3:38037655:A:C 1,.,. 1.31996e-05 0 2 -1 -1 -1 43,.,. 0.488372,.,. recessive HG002 HG002 chr3:38363449:A:AGTGCAT 2,.,. 5.92129e-05 0 9 -1 -1 -1 XYLB 50_intron 31,.,. 1,.,. XYLB/intron/ 0.0000 0.8568 1.0550 5 recessive HG002 HG002 chr3:38363452:A:G 2,.,. -1 -1 -1 -1 -1 -1 XYLB 50_intron 31,.,. 1,.,. XYLB/intron/ 0.0000 0.8568 1.0550 5 dominant HG002 HG002 chr3:38386496:A:C 1,.,. -1 -1 -1 -1 -1 -1 XYLB 50_intron 45,.,. 0.488889,.,. XYLB/intron/;XYLB/non_coding/ 0.0000 0.8568 1.0550 5 dominant HG002 HG002 chr3:38670059:A:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr3:39133663:T:C 1,.,. 6.5716e-06 0 1 -1 -1 -1 TTC21A 50_intron 44,.,. 0.454545,.,. TTC21A/intron/;TTC21A/non_coding/ 0.0000 0.7784 0.9050 4 Spermatogenic failure 37 0.000 dominant HG002 HG002 chr3:39228590:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.333333,.,. dominant HG002 HG002 chr3:39247820:T:TTCTTTC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr3:39247829:C:T 1,.,. 2.63359e-05 0 4 -1 -1 -1 36,.,. 0.555556,.,. recessive HG002 HG002 chr3:39301990:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr3:39301992:T:TTTTGATC 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr3:39909884:T:TTTTG 1,.,. -1 -1 -1 -1 -1 -1 MYRIP 50_intron 36,.,. 0.388889,.,. MYRIP/intron/;MYRIP/non_coding/ 0.0000 0.4976 0.6360 2 dominant HG002 HG002 chr3:39926826:C:T 1,.,. -1 -1 -1 -1 -1 -1 MYRIP 50_intron 45,.,. 0.511111,.,. MYRIP/intron/;MYRIP/non_coding/ 0.0000 0.4976 0.6360 2 dominant HG002 HG002 chr3:39980818:TA:T 1,.,. -1 -1 -1 -1 -1 -1 MYRIP 50_intron 30,.,. 0.533333,.,. MYRIP/intron/;MYRIP/non_coding/ 0.0000 0.4976 0.6360 2 dominant HG002 HG002 chr3:39980820:A:T 1,.,. -1 -1 -1 -1 -1 -1 MYRIP 50_intron 30,.,. 0.533333,.,. MYRIP/intron/;MYRIP/non_coding/ 0.0000 0.4976 0.6360 2 dominant HG002 HG002 chr3:39980821:G:T 1,.,. -1 -1 -1 -1 -1 -1 MYRIP 50_intron 30,.,. 0.533333,.,. MYRIP/intron/;MYRIP/non_coding/ 0.0000 0.4976 0.6360 2 dominant HG002 HG002 chr3:40040784:T:A 1,.,. -1 -1 -1 -1 -1 -1 MYRIP 50_intron 36,.,. 0.333333,.,. MYRIP/intron/;MYRIP/non_coding/ 0.0000 0.4976 0.6360 2 recessive HG002 HG002 chr3:40084772:A:ATATG 2,.,. -1 -1 -1 -1 -1 -1 MYRIP 50_intron 40,.,. 1,.,. MYRIP/intron/;MYRIP/non_coding/ 0.0000 0.4976 0.6360 2 dominant HG002 HG002 chr3:40862360:A:C 1,.,. 6.57704e-06 0 1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr3:41055772:T:TTTC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr3:41055774:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr3:41477987:T:G 1,.,. -1 -1 -1 -1 -1 -1 ULK4 50_intron 35,.,. 0.457143,.,. ULK4/intron/ 0.0000 0.8008 0.9430 4 dominant HG002 HG002 chr3:41559286:T:C 1,.,. 8.54686e-06 0 1 -1 -1 -1 ULK4 50_intron 55,.,. 0.327273,.,. ULK4/intron/ 0.0000 0.8008 0.9430 4 dominant HG002 HG002 chr3:41790469:G:C 1,.,. -1 -1 -1 -1 -1 -1 ULK4 50_intron 38,.,. 0.368421,.,. ULK4/intron/ 0.0000 0.8008 0.9430 4 recessive HG002 HG002 chr3:41882021:GAGGCC:G 2,.,. -1 -1 -1 -1 -1 -1 ULK4 50_intron 44,.,. 1,.,. ULK4/intron/ 0.0000 0.8008 0.9430 4 recessive HG002 HG002 chr3:41882027:A:G 2,.,. -1 -1 -1 -1 -1 -1 ULK4 50_intron 43,.,. 1,.,. ULK4/intron/ 0.0000 0.8008 0.9430 4 dominant HG002 HG002 chr3:42138874:G:GGTGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 TRAK1 50_intron 34,.,. 0.382353,.,. TRAK1/intron/ 0.9985 0.3363 0.4610 1 Developmental and epileptic encephalopathy, 68 0.000 dominant HG002 HG002 chr3:42266678:C:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr3:42478125:C:T 1,.,. 6.5672e-06 0 1 0.000700771 0 2 39,.,. 0.461538,.,. dominant HG002 HG002 chr3:42573736:T:TG 1,.,. 6.58987e-06 0 1 -1 -1 -1 SEC22C 50_intron 41,.,. 0.536585,.,. SEC22C/intron/;SEC22C/non_coding/ 0.0000 0.7690 1.0980 5 dominant HG002 HG002 chr3:42719389:C:T 1,.,. -1 -1 -1 -1 -1 -1 AC006059.2;CCDC13 50_intron 26,.,. 0.384615,.,. AC006059.2/intron/;CCDC13/non_coding/ 0.0000 0.7354 0.9060 4 dominant HG002 HG002 chr3:42730246:C:T 1,.,. 6.5773e-06 0 1 -1 -1 -1 AC006059.2;CCDC13 50_intron 33,.,. 0.363636,.,. AC006059.2/intron/;CCDC13/non_coding/ 0.0000 0.7354 0.9060 4 dominant HG002 HG002 chr3:43160263:C:T 1,.,. 1.9847e-05 0 3 0.000700771 0 2 40,.,. 0.525,.,. dominant HG002 HG002 chr3:43278032:AAAG:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. recessive HG002 HG002 chr3:43796932:TTAA:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr3:43796936:T:A 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr3:43977043:G:A 1,.,. 2.633e-05 0 4 -1 -1 -1 44,.,. 0.545455,.,. recessive HG002 HG002 chr3:44193295:T:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr3:44840693:GAGTCTTGCTC:G 1,.,. -1 -1 -1 -1 -1 -1 KIF15 50_intron 37,.,. 0.567568,.,. KIF15/intron/ 0.0000 0.7535 0.8910 4 Braddock-carey syndrome 2 0.000 dominant HG002 HG002 chr3:44840704:T:C 1,.,. -1 -1 -1 -1 -1 -1 KIF15 50_intron 37,.,. 0.567568,.,. KIF15/intron/ 0.0000 0.7535 0.8910 4 Braddock-carey syndrome 2 0.000 dominant HG002 HG002 chr3:44904233:GGTT:G 1,.,. -1 -1 -1 -1 -1 -1 TGM4 50_intron 33,.,. 0.575758,.,. TGM4/intron/;TGM4/non_coding/ 0.0000 0.7860 0.9680 4 dominant HG002 HG002 chr3:44904237:C:T 1,.,. -1 -1 -1 -1 -1 -1 TGM4 50_intron 32,.,. 0.59375,.,. TGM4/intron/;TGM4/non_coding/ 0.0000 0.7860 0.9680 4 dominant HG002 HG002 chr3:44955941:AT:A 1,.,. -1 -1 -1 -1 -1 -1 ZDHHC3 50_intron 35,.,. 0.6,.,. ZDHHC3/intron/;ZDHHC3/non_coding/ 0.9829 0.3010 0.4980 1 dominant HG002 HG002 chr3:45157869:CACCTTTCCATA:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr3:45157882:T:C 1,.,. 1.16518e-05 0 1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr3:45324692:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. recessive HG002 HG002 chr3:45636145:G:T 2,.,. -1 -1 -1 -1 -1 -1 LIMD1 20_splice_region 54,.,. 0.981481,.,. LIMD1/splice_region/ENST00000440097;LIMD1/splice_region/ENST00000273317 0.9292 0.3590 0.5220 1 recessive HG002 HG002 chr3:45636146:C:G 2,.,. -1 -1 -1 -1 -1 -1 LIMD1 20_splice_region 54,.,. 0.981481,.,. LIMD1/splice_region/ENST00000440097;LIMD1/splice_region/ENST00000273317 0.9292 0.3590 0.5220 1 recessive HG002 HG002 chr3:45636147:A:C 2,.,. -1 -1 -1 -1 -1 -1 LIMD1 20_splice_region 53,.,. 1,.,. LIMD1/splice_region/ENST00000440097;LIMD1/splice_region/ENST00000273317 0.9292 0.3590 0.5220 1 recessive HG002 HG002 chr3:45638027:A:AAC 2,.,. -1 -1 -1 -1 -1 -1 LIMD1 50_intron 52,.,. 1,.,. LIMD1/non_coding/;LIMD1/intron/ 0.9292 0.3590 0.5220 1 recessive HG002 HG002 chr3:45638028:C:A 2,.,. -1 -1 -1 -1 -1 -1 LIMD1 50_intron 52,.,. 1,.,. LIMD1/non_coding/;LIMD1/intron/ 0.9292 0.3590 0.5220 1 dominant HG002 HG002 chr3:45903788:C:T 1,.,. -1 -1 -1 -1 -1 -1 LZTFL1 50_intron 30,.,. 0.3,.,. LZTFL1/intron/;LZTFL1/non_coding/ 0.0015 0.5756 0.8740 4 Bardet-Biedl syndrome 17 0.000 dominant HG002 HG002 chr3:46556416:C:A 1,.,. -1 -1 -1 -1 -1 -1 LRRC2 50_intron 22,.,. 0.681818,.,. LRRC2/intron/;LRRC2/non_coding/ 0.0000 0.6675 0.9390 4 dominant HG002 HG002 chr3:46618874:TATATATATAC:T 1,.,. -1 -1 -1 0.000700771 0 2 FAM240A 50_intron 36,.,. 0.416667,.,. FAM240A/intron/ 0.0018 1.3781 1.9160 9 dominant HG002 HG002 chr3:46654159:C:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr3:46931596:GC:G 1,.,. -1 -1 -1 -1 -1 -1 CCDC12 50_intron 35,.,. 0.485714,.,. CCDC12/intron/;CCDC12/non_coding/ 0.0000 1.1451 1.5680 8 dominant HG002 HG002 chr3:46931598:T:G 1,.,. -1 -1 -1 -1 -1 -1 CCDC12 50_intron 34,.,. 0.5,.,. CCDC12/intron/;CCDC12/non_coding/ 0.0000 1.1451 1.5680 8 dominant HG002 HG002 chr3:46931599:G:C 1,.,. -1 -1 -1 -1 -1 -1 CCDC12 50_intron 36,.,. 0.5,.,. CCDC12/intron/;CCDC12/non_coding/ 0.0000 1.1451 1.5680 8 recessive HG002 HG002 chr3:46948930:GGTACTCCATGCTGTAC:G 2,.,. -1 -1 -1 -1 -1 -1 CCDC12 50_intron 31,.,. 1,.,. CCDC12/intron/;CCDC12/non_coding/ 0.0000 1.1451 1.5680 8 recessive HG002 HG002 chr3:46948947:T:C 2,.,. -1 -1 -1 -1 -1 -1 CCDC12 50_intron 31,.,. 1,.,. CCDC12/intron/;CCDC12/non_coding/ 0.0000 1.1451 1.5680 8 dominant HG002 HG002 chr3:48566437:G:A 1,.,. -1 -1 -1 -1 -1 -1 COL7A1 50_intron 30,.,. 0.4,.,. COL7A1/intron/;COL7A1/non_coding/ 0.0000 0.6267 0.6900 2 Dominant dystrophic epidermolysis bullosa with absence of skin;Epidermolysis bullosa pruriginosa;Generalized dominant dystrophic epidermolysis bullosa;Nonsyndromic congenital nail disorder 8;Epidermolysis bullosa dystrophica;Pretibial dystrophic epidermolysis bullosa;Transient bullous dermolysis of the newborn;Recessive dystrophic epidermolysis bullosa 0.000 dominant HG002 HG002 chr3:49033963:GGCAACAGA:G 1,.,. -1 -1 -1 -1 -1 -1 QRICH1 50_intron 25,.,. 0.4,.,. QRICH1/intron/;QRICH1/non_coding/ 1.0000 0.1670 0.2610 0 Ververi-Brady syndrome 0.000 dominant HG002 HG002 chr3:49033974:G:C 1,.,. -1 -1 -1 -1 -1 -1 QRICH1 50_intron 24,.,. 0.416667,.,. QRICH1/intron/;QRICH1/non_coding/ 1.0000 0.1670 0.2610 0 Ververi-Brady syndrome 0.000 recessive HG002 HG002 chr3:49407484:C:T 2,.,. 0.00184502 0 1 -1 -1 -1 RHOA 50_intron 28,.,. 1,.,. RHOA/intron/;RHOA/non_coding/ 0.9896 0.1676 0.4330 1 Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 0.000 recessive HG002 HG002 chr3:49407485:A:C 2,.,. 6.57895e-06 0 1 -1 -1 -1 RHOA 50_intron 28,.,. 1,.,. RHOA/intron/;RHOA/non_coding/ 0.9896 0.1676 0.4330 1 Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 0.000 recessive HG002 HG002 chr3:49407487:C:G 2,.,. 6.5786e-06 0 1 -1 -1 -1 RHOA 50_intron 28,.,. 1,.,. RHOA/intron/;RHOA/non_coding/ 0.9896 0.1676 0.4330 1 Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 0.000 recessive HG002 HG002 chr3:49407488:A:C 2,.,. -1 -1 -1 -1 -1 -1 RHOA 50_intron 28,.,. 1,.,. RHOA/intron/;RHOA/non_coding/ 0.9896 0.1676 0.4330 1 Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 0.000 dominant HG002 HG002 chr3:49453747:G:GGAAGGAAGGAAA 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.571429,.,. dominant HG002 HG002 chr3:49764370:AGACCCTGT:A 1,.,. -1 -1 -1 -1 -1 -1 IP6K1 50_intron 37,.,. 0.486486,.,. IP6K1/intron/;IP6K1/non_coding/ 0.9655 0.3248 0.5160 1 dominant HG002 HG002 chr3:49764379:C:T 1,.,. -1 -1 -1 -1 -1 -1 IP6K1 50_intron 37,.,. 0.486486,.,. IP6K1/intron/;IP6K1/non_coding/ 0.9655 0.3248 0.5160 1 dominant HG002 HG002 chr3:49776503:C:A 1,.,. -1 -1 -1 -1 -1 -1 IP6K1 50_intron 30,.,. 0.3,.,. IP6K1/intron/;IP6K1/non_coding/ 0.9655 0.3248 0.5160 1 dominant HG002 HG002 chr3:49776505:A:G 1,.,. -1 -1 -1 -1 -1 -1 IP6K1 50_intron 30,.,. 0.3,.,. IP6K1/intron/;IP6K1/non_coding/ 0.9655 0.3248 0.5160 1 dominant HG002 HG002 chr3:49776506:G:A 1,.,. 6.70205e-06 0 1 -1 -1 -1 IP6K1 50_intron 30,.,. 0.3,.,. IP6K1/intron/;IP6K1/non_coding/ 0.9655 0.3248 0.5160 1 dominant HG002 HG002 chr3:50087684:A:T 1,.,. -1 -1 -1 -1 -1 -1 RBM6 50_intron 30,.,. 0.5,.,. RBM6/intron/ 1.0000 0.1454 0.2130 0 dominant HG002 HG002 chr3:50602073:C:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.444444,.,. dominant HG002 HG002 chr3:50758199:A:G 1,.,. -1 -1 -1 -1 -1 -1 DOCK3 50_intron 46,.,. 0.413043,.,. DOCK3/intron/ 1.0000 0.2387 0.2980 0 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0.000 dominant HG002 HG002 chr3:50800376:A:G 1,.,. -1 -1 -1 -1 -1 -1 DOCK3 50_intron 39,.,. 0.487179,.,. DOCK3/intron/ 1.0000 0.2387 0.2980 0 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0.000 dominant HG002 HG002 chr3:50800377:T:G 1,.,. -1 -1 -1 -1 -1 -1 DOCK3 50_intron 39,.,. 0.487179,.,. DOCK3/intron/ 1.0000 0.2387 0.2980 0 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0.000 dominant HG002 HG002 chr3:50800379:G:C 1,.,. -1 -1 -1 -1 -1 -1 DOCK3 50_intron 39,.,. 0.487179,.,. DOCK3/intron/ 1.0000 0.2387 0.2980 0 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0.000 dominant HG002 HG002 chr3:50800380:TTATTG:T 1,.,. -1 -1 -1 -1 -1 -1 DOCK3 50_intron 39,.,. 0.487179,.,. DOCK3/intron/ 1.0000 0.2387 0.2980 0 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0.000 dominant HG002 HG002 chr3:50831201:A:T 1,.,. -1 -1 -1 -1 -1 -1 DOCK3 50_intron 35,.,. 0.4,.,. DOCK3/intron/ 1.0000 0.2387 0.2980 0 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0.000 dominant HG002 HG002 chr3:51143268:TTTTA:T 1,.,. -1 -1 -1 -1 -1 -1 DOCK3 50_intron 51,.,. 0.490196,.,. DOCK3/intron/ 1.0000 0.2387 0.2980 0 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0.000 dominant HG002 HG002 chr3:51248318:G:A 1,.,. -1 -1 -1 -1 -1 -1 DOCK3 50_intron 52,.,. 0.423077,.,. DOCK3/intron/ 1.0000 0.2387 0.2980 0 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0.000 dominant HG002 HG002 chr3:51510627:A:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr3:51524124:C:G 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.714286,.,. dominant HG002 HG002 chr3:51607979:C:T 1,.,. 1.32837e-05 0 2 -1 -1 -1 RAD54L2 50_intron 28,.,. 0.5,.,. RAD54L2/intron/;RAD54L2/non_coding/ 1.0000 0.1886 0.2650 0 dominant HG002 HG002 chr3:51642603:G:T 1,.,. -1 -1 -1 -1 -1 -1 RAD54L2 50_intron 36,.,. 0.527778,.,. RAD54L2/intron/;RAD54L2/non_coding/ 1.0000 0.1886 0.2650 0 dominant HG002 HG002 chr3:51680932:G:T 1,.,. -1 -1 -1 -1 -1 -1 TEX264 50_intron 34,.,. 0.529412,.,. TEX264/intron/;TEX264/non_coding/ 0.0236 0.5017 0.7980 3 dominant HG002 HG002 chr3:52256446:C:G 1,.,. -1 -1 -1 -1 -1 -1 WDR82 36_3_prime_utr 32,.,. 0.5625,.,. WDR82/3_prime_utr/ENST00000296490 0.9966 0.2336 0.4390 1 dominant HG002 HG002 chr3:52369503:G:T 1,.,. -1 -1 -1 -1 -1 -1 DNAH1 50_intron 22,.,. 0.454545,.,. DNAH1/non_coding/;DNAH1/intron/ 0.0000 0.6931 0.7590 3 Ciliary dyskinesia, primary, 37;Spermatogenic failure 18 0.000 dominant HG002 HG002 chr3:52513896:C:G 1,.,. -1 -1 -1 -1 -1 -1 STAB1 14_missense 24,.,. 0.458333,.,. STAB1/missense/ENST00000321725 0.0000 0.7590 0.8430 3 Isolated hyperferritinemia dominant HG002 HG002 chr3:52756062:C:T 1,.,. -1 -1 -1 -1 -1 -1 NEK4 50_intron 33,.,. 0.606061,.,. NEK4/intron/ 0.0000 0.9416 1.1580 6 dominant HG002 HG002 chr3:52856379:T:G 1,.,. 1.31544e-05 0 2 -1 -1 -1 STIMATE-MUSTN1;STIMATE 50_intron 21,.,. 0.285714,.,. STIMATE-MUSTN1/intron/;STIMATE/intron/ 0.0000;;0.1820 0.5705;;0.4255 0.7870;;0.6550 3;;2 recessive HG002 HG002 chr3:52982856:AAAG:A 2,.,. 7.84683e-05 0 2 -1 -1 -1 SFMBT1;AC096887.1 50_intron 44,.,. 1,.,. SFMBT1/intron/;SFMBT1/non_coding/;AC096887.1/intron/ 1.0000 0.2949 0.4020 1 recessive HG002 HG002 chr3:52982861:A:G 2,.,. -1 -1 -1 -1 -1 -1 SFMBT1;AC096887.1 50_intron 44,.,. 1,.,. SFMBT1/intron/;SFMBT1/non_coding/;AC096887.1/intron/ 1.0000 0.2949 0.4020 1 dominant HG002 HG002 chr3:53067824:G:A 1,.,. 6.56418e-06 0 1 0.000700771 0 2 AC096887.1 50_intron 25,.,. 0.64,.,. AC096887.1/intron/ dominant HG002 HG002 chr3:53481208:T:A 1,.,. 1.32027e-05 0 2 -1 -1 -1 CACNA1D 50_intron 40,.,. 0.5,.,. CACNA1D/intron/ 1.0000 0.1947 0.2530 0 Aldosterone-producing adenoma with seizures and neurological abnormalities;Sinoatrial node dysfunction and deafness 0.000 dominant HG002 HG002 chr3:53487783:TAAAAATACAG:T 1,.,. -1 -1 -1 -1 -1 -1 CACNA1D 50_intron 38,.,. 0.394737,.,. CACNA1D/intron/ 1.0000 0.1947 0.2530 0 Aldosterone-producing adenoma with seizures and neurological abnormalities;Sinoatrial node dysfunction and deafness 0.000 dominant HG002 HG002 chr3:53487794:A:T 1,.,. -1 -1 -1 -1 -1 -1 CACNA1D 50_intron 39,.,. 0.384615,.,. CACNA1D/intron/ 1.0000 0.1947 0.2530 0 Aldosterone-producing adenoma with seizures and neurological abnormalities;Sinoatrial node dysfunction and deafness 0.000 dominant HG002 HG002 chr3:53520904:C:T 1,.,. -1 -1 -1 -1 -1 -1 CACNA1D 50_intron 24,.,. 0.541667,.,. CACNA1D/intron/;CACNA1D/non_coding/ 1.0000 0.1947 0.2530 0 Aldosterone-producing adenoma with seizures and neurological abnormalities;Sinoatrial node dysfunction and deafness 0.000 dominant HG002 HG002 chr3:53599675:G:A 1,.,. 6.57358e-06 0 1 -1 -1 -1 CACNA1D 50_intron 47,.,. 0.489362,.,. CACNA1D/intron/;CACNA1D/non_coding/ 1.0000 0.1947 0.2530 0 Aldosterone-producing adenoma with seizures and neurological abnormalities;Sinoatrial node dysfunction and deafness 0.000 dominant HG002 HG002 chr3:53696941:C:CAGT 1,.,. -1 -1 -1 -1 -1 -1 CACNA1D 50_intron 34,.,. 0.323529,.,. CACNA1D/intron/ 1.0000 0.1947 0.2530 0 Aldosterone-producing adenoma with seizures and neurological abnormalities;Sinoatrial node dysfunction and deafness 0.000 dominant HG002 HG002 chr3:53696944:C:T 1,.,. -1 -1 -1 -1 -1 -1 CACNA1D 50_intron 34,.,. 0.323529,.,. CACNA1D/intron/ 1.0000 0.1947 0.2530 0 Aldosterone-producing adenoma with seizures and neurological abnormalities;Sinoatrial node dysfunction and deafness 0.000 dominant HG002 HG002 chr3:53696945:G:C 1,.,. -1 -1 -1 -1 -1 -1 CACNA1D 50_intron 34,.,. 0.294118,.,. CACNA1D/intron/ 1.0000 0.1947 0.2530 0 Aldosterone-producing adenoma with seizures and neurological abnormalities;Sinoatrial node dysfunction and deafness 0.000 dominant HG002 HG002 chr3:54071273:G:T 1,.,. 6.57419e-06 0 1 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr3:54439308:G:GGTGTGT 1,.,. 1.65796e-05 0 2 -1 -1 -1 CACNA2D3 50_intron 12,.,. 0.75,.,. CACNA2D3/intron/ 0.9994 0.3392 0.4540 1 dominant HG002 HG002 chr3:54572077:T:G 1,.,. -1 -1 -1 -1 -1 -1 CACNA2D3 50_intron 39,.,. 0.358974,.,. CACNA2D3/intron/ 0.9994 0.3392 0.4540 1 dominant HG002 HG002 chr3:54572078:G:T 1,.,. 1.53483e-05 0 1 -1 -1 -1 CACNA2D3 50_intron 39,.,. 0.358974,.,. CACNA2D3/intron/ 0.9994 0.3392 0.4540 1 dominant HG002 HG002 chr3:54572139:G:A 1,.,. -1 -1 -1 -1 -1 -1 CACNA2D3 50_intron 39,.,. 0.358974,.,. CACNA2D3/intron/ 0.9994 0.3392 0.4540 1 dominant HG002 HG002 chr3:54848536:ATTCATCTGTC:A 1,.,. -1 -1 -1 -1 -1 -1 CACNA2D3 50_intron 42,.,. 0.5,.,. CACNA2D3/intron/ 0.9994 0.3392 0.4540 1 dominant HG002 HG002 chr3:54848550:C:G 1,.,. -1 -1 -1 -1 -1 -1 CACNA2D3 50_intron 42,.,. 0.5,.,. CACNA2D3/intron/ 0.9994 0.3392 0.4540 1 dominant HG002 HG002 chr3:54918336:T:C 1,.,. -1 -1 -1 -1 -1 -1 LRTM1 36_3_prime_utr 39,.,. 0.461538,.,. LRTM1/3_prime_utr/ENST00000273286;LRTM1/3_prime_utr/ENST00000493075 0.0000 1.0671 1.4150 7 dominant HG002 HG002 chr3:54965243:C:CAAG 1,.,. -1 -1 -1 -1 -1 -1 CACNA2D3 50_intron 33,.,. 0.454545,.,. CACNA2D3/intron/ 0.9994 0.3392 0.4540 1 dominant HG002 HG002 chr3:54965244:G:A 1,.,. 1.31944e-05 0 2 -1 -1 -1 CACNA2D3 50_intron 33,.,. 0.454545,.,. CACNA2D3/intron/ 0.9994 0.3392 0.4540 1 dominant HG002 HG002 chr3:54970554:C:T 1,.,. 1.40193e-05 0 2 0.000700771 0 2 CACNA2D3 50_intron 19,.,. 0.421053,.,. CACNA2D3/intron/ 0.9994 0.3392 0.4540 1 dominant HG002 HG002 chr3:55981843:T:C 1,.,. -1 -1 -1 -1 -1 -1 ERC2 50_intron 37,.,. 0.513514,.,. ERC2/intron/ 0.9915 0.3678 0.4760 1 dominant HG002 HG002 chr3:56106114:A:G 1,.,. -1 -1 -1 -1 -1 -1 ERC2 50_intron 40,.,. 0.4,.,. ERC2/intron/ 0.9915 0.3678 0.4760 1 dominant HG002 HG002 chr3:56111353:CTCTCTCCCTCAA:C 1,.,. -1 -1 -1 -1 -1 -1 ERC2 50_intron 46,.,. 0.413043,.,. ERC2/intron/ 0.9915 0.3678 0.4760 1 recessive HG002 HG002 chr3:56206206:C:T 2,.,. 0.002528 0 167 0.00140154 0 4 ERC2 50_intron 30,.,. 1,.,. ERC2/intron/ 0.9915 0.3678 0.4760 1 dominant HG002 HG002 chr3:56703206:G:GTGCATATA 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr3:56729853:C:CTCTCAGA 1,.,. -1 -1 -1 -1 -1 -1 ARHGEF3 50_intron 32,.,. 0.5625,.,. ARHGEF3/intron/ 0.0847 0.4286 0.5910 2 dominant HG002 HG002 chr3:56729855:G:A 1,.,. -1 -1 -1 -1 -1 -1 ARHGEF3 50_intron 32,.,. 0.5625,.,. ARHGEF3/intron/ 0.0847 0.4286 0.5910 2 recessive HG002 HG002 chr3:57040906:TGAAGG:T 2,.,. -1 -1 -1 -1 -1 -1 ARHGEF3 50_intron 33,.,. 1,.,. ARHGEF3/intron/;ARHGEF3/non_coding/ 0.0847 0.4286 0.5910 2 recessive HG002 HG002 chr3:57040913:G:T 2,.,. -1 -1 -1 -1 -1 -1 ARHGEF3 50_intron 33,.,. 1,.,. ARHGEF3/intron/;ARHGEF3/non_coding/ 0.0847 0.4286 0.5910 2 recessive HG002 HG002 chr3:57040914:T:C 2,.,. -1 -1 -1 -1 -1 -1 ARHGEF3 50_intron 34,.,. 1,.,. ARHGEF3/intron/;ARHGEF3/non_coding/ 0.0847 0.4286 0.5910 2 recessive HG002 HG002 chr3:57040915:A:T 2,.,. -1 -1 -1 -1 -1 -1 ARHGEF3 50_intron 34,.,. 1,.,. ARHGEF3/intron/;ARHGEF3/non_coding/ 0.0847 0.4286 0.5910 2 dominant HG002 HG002 chr3:57298955:TG:T 1,.,. -1 -1 -1 -1 -1 -1 DNAH12 50_intron 38,.,. 0.447368,.,. DNAH12/intron/ 0.0000 0.7454 0.8270 3 SPERMATOGENIC FAILURE 100 dominant HG002 HG002 chr3:57298958:A:T 1,.,. -1 -1 -1 -1 -1 -1 DNAH12 50_intron 38,.,. 0.447368,.,. DNAH12/intron/ 0.0000 0.7454 0.8270 3 SPERMATOGENIC FAILURE 100 dominant HG002 HG002 chr3:57298960:AGATG:A 1,.,. -1 -1 -1 -1 -1 -1 DNAH12 50_intron 38,.,. 0.447368,.,. DNAH12/intron/ 0.0000 0.7454 0.8270 3 SPERMATOGENIC FAILURE 100 dominant HG002 HG002 chr3:57298965:A:T 1,.,. -1 -1 -1 -1 -1 -1 DNAH12 50_intron 38,.,. 0.447368,.,. DNAH12/intron/ 0.0000 0.7454 0.8270 3 SPERMATOGENIC FAILURE 100 dominant HG002 HG002 chr3:58652978:G:T 1,.,. 7.20534e-06 0 1 -1 -1 -1 FAM3D 50_intron 20,.,. 0.55,.,. FAM3D/intron/ 0.0000 0.8230 1.1280 6 dominant HG002 HG002 chr3:58664091:C:CAGATAAAG 1,.,. -1 -1 -1 -1 -1 -1 FAM3D 50_intron 32,.,. 0.59375,.,. FAM3D/intron/ 0.0000 0.8230 1.1280 6 dominant HG002 HG002 chr3:58664092:T:C 1,.,. 6.59344e-06 0 1 -1 -1 -1 FAM3D 50_intron 31,.,. 0.612903,.,. FAM3D/intron/ 0.0000 0.8230 1.1280 6 dominant HG002 HG002 chr3:59464255:G:A 1,.,. 6.57272e-06 0 1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr3:59927203:G:A 1,.,. 6.57462e-06 0 1 -1 -1 -1 FHIT 50_intron 41,.,. 0.512195,.,. FHIT/intron/;FHIT/non_coding/ 0.0000 1.0631 1.5700 8 recessive HG002 HG002 chr3:60441781:A:T 2,.,. -1 -1 -1 0.00280308 4 8 FHIT 50_intron 38,.,. 1,.,. FHIT/intron/ 0.0000 1.0631 1.5700 8 dominant HG002 HG002 chr3:60484488:CA:C 1,.,. -1 -1 -1 -1 -1 -1 FHIT 50_intron 32,.,. 0.53125,.,. FHIT/intron/ 0.0000 1.0631 1.5700 8 dominant HG002 HG002 chr3:60569742:T:C 1,.,. -1 -1 -1 -1 -1 -1 FHIT 50_intron 51,.,. 0.352941,.,. FHIT/intron/;FHIT/non_coding/ 0.0000 1.0631 1.5700 8 recessive HG002 HG002 chr3:60699700:T:TTAA 2,.,. -1 -1 -1 -1 -1 -1 FHIT 50_intron 40,.,. 1,.,. FHIT/intron/;FHIT/non_coding/ 0.0000 1.0631 1.5700 8 dominant HG002 HG002 chr3:60785894:AAGACACACACAC:A 1,.,. -1 -1 -1 -1 -1 -1 FHIT 50_intron 39,.,. 0.358974,.,. FHIT/intron/;FHIT/non_coding/ 0.0000 1.0631 1.5700 8 dominant HG002 HG002 chr3:60785908:C:A 1,.,. -1 -1 -1 -1 -1 -1 FHIT 50_intron 39,.,. 0.358974,.,. FHIT/intron/;FHIT/non_coding/ 0.0000 1.0631 1.5700 8 dominant HG002 HG002 chr3:60955611:T:C 1,.,. -1 -1 -1 -1 -1 -1 FHIT 50_intron 52,.,. 0.365385,.,. FHIT/intron/;FHIT/non_coding/ 0.0000 1.0631 1.5700 8 dominant HG002 HG002 chr3:61036911:TTTG:T 1,.,. 8.9044e-06 0 1 -1 -1 -1 FHIT 50_intron 37,.,. 0.432432,.,. FHIT/intron/;FHIT/non_coding/ 0.0000 1.0631 1.5700 8 dominant HG002 HG002 chr3:61410139:A:AATATATAT 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.428571,.,. dominant HG002 HG002 chr3:61430150:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr3:61729060:T:TCAAA 1,.,. -1 -1 -1 -1 -1 -1 PTPRG 50_intron 45,.,. 0.488889,.,. PTPRG/non_coding/;PTPRG/intron/ 0.0000 0.5945 0.7140 2 dominant HG002 HG002 chr3:61888339:G:T 1,.,. -1 -1 -1 -1 -1 -1 PTPRG 50_intron 36,.,. 0.472222,.,. PTPRG/intron/ 0.0000 0.5945 0.7140 2 recessive HG002 HG002 chr3:61953857:GTATTTTCTGCTGCT:G 2,.,. -1 -1 -1 -1 -1 -1 PTPRG 50_intron 34,.,. 1,.,. PTPRG/intron/ 0.0000 0.5945 0.7140 2 recessive HG002 HG002 chr3:61953872:G:A 2,.,. -1 -1 -1 -1 -1 -1 PTPRG 50_intron 34,.,. 1,.,. PTPRG/intron/ 0.0000 0.5945 0.7140 2 recessive HG002 HG002 chr3:62062233:A:AAGT 2,.,. -1 -1 -1 -1 -1 -1 PTPRG 50_intron 44,.,. 1,.,. PTPRG/intron/ 0.0000 0.5945 0.7140 2 recessive HG002 HG002 chr3:62062234:G:T 2,.,. -1 -1 -1 -1 -1 -1 PTPRG 50_intron 45,.,. 1,.,. PTPRG/intron/ 0.0000 0.5945 0.7140 2 dominant HG002 HG002 chr3:62509312:G:A 1,.,. -1 -1 -1 -1 -1 -1 CADPS 50_intron 34,.,. 0.529412,.,. CADPS/intron/ 0.9998 0.3385 0.4450 1 dominant HG002 HG002 chr3:62594172:T:A 1,.,. -1 -1 -1 -1 -1 -1 CADPS 50_intron 44,.,. 0.5,.,. CADPS/intron/ 0.9998 0.3385 0.4450 1 dominant HG002 HG002 chr3:63098928:T:TTATA 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.735294,.,. dominant HG002 HG002 chr3:63098928:T:TTATATA 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.689655,.,. dominant HG002 HG002 chr3:63198837:A:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr3:63210803:T:C 1,.,. 7.87637e-06 0 1 -1 -1 -1 27,.,. 0.555556,.,. dominant HG002 HG002 chr3:63476149:G:A 1,.,. -1 -1 -1 -1 -1 -1 SYNPR 50_intron 37,.,. 0.486486,.,. SYNPR/non_coding/;SYNPR/intron/ 0.0000 0.7049 0.9990 5 dominant HG002 HG002 chr3:63540928:CCAACA:C 1,.,. -1 -1 -1 -1 -1 -1 SYNPR 50_intron 36,.,. 0.5,.,. SYNPR/non_coding/;SYNPR/intron/ 0.0000 0.7049 0.9990 5 dominant HG002 HG002 chr3:63540934:C:A 1,.,. -1 -1 -1 -1 -1 -1 SYNPR 50_intron 37,.,. 0.513514,.,. SYNPR/non_coding/;SYNPR/intron/ 0.0000 0.7049 0.9990 5 recessive HG002 HG002 chr3:64118869:T:TGGG 2,.,. -1 -1 -1 -1 -1 -1 PRICKLE2 50_intron 35,.,. 1,.,. PRICKLE2/intron/;PRICKLE2/non_coding/ 1.0000 0.2314 0.3400 0 recessive HG002 HG002 chr3:64118870:A:T 2,.,. -1 -1 -1 -1 -1 -1 PRICKLE2 50_intron 36,.,. 1,.,. PRICKLE2/intron/;PRICKLE2/non_coding/ 1.0000 0.2314 0.3400 0 recessive HG002 HG002 chr3:64118871:T:A 2,.,. -1 -1 -1 -1 -1 -1 PRICKLE2 50_intron 35,.,. 1,.,. PRICKLE2/intron/;PRICKLE2/non_coding/ 1.0000 0.2314 0.3400 0 recessive HG002 HG002 chr3:64315236:T:A 2,.,. -1 -1 -1 -1 -1 -1 PRICKLE2 50_intron 35,.,. 1,.,. PRICKLE2/intron/;PRICKLE2/non_coding/ 1.0000 0.2314 0.3400 0 dominant HG002 HG002 chr3:64515083:T:C 1,.,. 1.31444e-05 0 2 -1 -1 -1 51,.,. 0.647059,.,. recessive HG002 HG002 chr3:64545010:A:AATGC 2,.,. -1 -1 -1 -1 -1 -1 ADAMTS9 50_intron 47,.,. 1,.,. ADAMTS9/intron/ 0.8687 0.3987 0.4690 1 recessive HG002 HG002 chr3:64545012:G:C 2,.,. -1 -1 -1 -1 -1 -1 ADAMTS9 50_intron 48,.,. 1,.,. ADAMTS9/intron/ 0.8687 0.3987 0.4690 1 recessive HG002 HG002 chr3:64801111:C:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr3:65178082:CACA:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr3:65178088:C:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr3:65260972:A:C 1,.,. 1.31304e-05 0 2 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr3:65263368:T:TTTAAAAAG 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr3:65263371:T:A 1,.,. 1.31987e-05 0 2 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr3:65328100:T:C 1,.,. 6.56582e-06 0 1 -1 -1 -1 50,.,. 0.52,.,. dominant HG002 HG002 chr3:65695301:CCCATTAAATAAT:C 1,.,. -1 -1 -1 -1 -1 -1 MAGI1 50_intron 23,.,. 0.391304,.,. MAGI1/intron/;MAGI1/non_coding/ 0.8615 0.3910 0.4940 1 dominant HG002 HG002 chr3:65695314:A:T 1,.,. -1 -1 -1 -1 -1 -1 MAGI1 50_intron 23,.,. 0.391304,.,. MAGI1/intron/;MAGI1/non_coding/ 0.8615 0.3910 0.4940 1 dominant HG002 HG002 chr3:65945528:GGTGAAAAACT:G 1,.,. -1 -1 -1 -1 -1 -1 MAGI1 50_intron 31,.,. 0.387097,.,. MAGI1/intron/;MAGI1/non_coding/ 0.8615 0.3910 0.4940 1 dominant HG002 HG002 chr3:65945539:A:T 1,.,. 1.04974e-05 0 1 -1 -1 -1 MAGI1 50_intron 31,.,. 0.387097,.,. MAGI1/intron/;MAGI1/non_coding/ 0.8615 0.3910 0.4940 1 dominant HG002 HG002 chr3:66166837:A:C 1,.,. 6.58077e-06 0 1 -1 -1 -1 SLC25A26 50_intron 33,.,. 0.393939,.,. SLC25A26/intron/ 0.0163 0.6148 1.1090 6 Combined oxidative phosphorylation deficiency 28 0.000 dominant HG002 HG002 chr3:66367711:G:C 1,.,. 7.2489e-06 0 1 -1 -1 -1 SLC25A26 50_intron 30,.,. 0.3,.,. SLC25A26/intron/;SLC25A26/non_coding/ 0.0163 0.6148 1.1090 6 Combined oxidative phosphorylation deficiency 28 0.000 dominant HG002 HG002 chr3:66435072:C:A 1,.,. -1 -1 -1 -1 -1 -1 LRIG1 50_intron 30,.,. 0.566667,.,. LRIG1/intron/;LRIG1/non_coding/ 0.0000 0.5092 0.6460 2 dominant HG002 HG002 chr3:66526425:A:G 1,.,. 1.97068e-05 0 3 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chr3:66802768:A:AAAT 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.415094,.,. dominant HG002 HG002 chr3:66802771:A:C 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.442308,.,. dominant HG002 HG002 chr3:67255795:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.42,.,. recessive HG002 HG002 chr3:67337502:G:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr3:67393230:C:T 1,.,. -1 -1 -1 0.00140154 0 4 SUCLG2 50_intron 41,.,. 0.585366,.,. SUCLG2/intron/ 0.0000 0.8603 1.1240 6 dominant HG002 HG002 chr3:67565193:C:A 1,.,. 6.57177e-06 0 1 -1 -1 -1 SUCLG2 50_intron 38,.,. 0.394737,.,. SUCLG2/intron/ 0.0000 0.8603 1.1240 6 dominant HG002 HG002 chr3:68111775:T:TGA 1,.,. -1 -1 -1 -1 -1 -1 TAFA1 50_intron 47,.,. 0.489362,.,. TAFA1/intron/ 0.9902 0.1666 0.4310 1 recessive HG002 HG002 chr3:68311310:A:ATATATTCACGTT 2,.,. -1 -1 -1 -1 -1 -1 TAFA1 50_intron 46,.,. 1,.,. TAFA1/intron/;TAFA1/non_coding/ 0.9902 0.1666 0.4310 1 dominant HG002 HG002 chr3:68399223:G:A 1,.,. -1 -1 -1 -1 -1 -1 TAFA1 50_intron 40,.,. 0.225,.,. TAFA1/intron/;TAFA1/non_coding/ 0.9902 0.1666 0.4310 1 dominant HG002 HG002 chr3:68455883:T:C 1,.,. 1.97122e-05 0 3 -1 -1 -1 TAFA1 50_intron 31,.,. 0.419355,.,. TAFA1/intron/ 0.9902 0.1666 0.4310 1 dominant HG002 HG002 chr3:68486078:TTTTATTTTATTTTA:T 1,.,. -1 -1 -1 -1 -1 -1 TAFA1 50_intron 40,.,. 0.5,.,. TAFA1/intron/ 0.9902 0.1666 0.4310 1 dominant HG002 HG002 chr3:68506472:G:GAGACACACACAC 1,.,. -1 -1 -1 -1 -1 -1 TAFA1 50_intron 39,.,. 0.307692,.,. TAFA1/intron/ 0.9902 0.1666 0.4310 1 recessive HG002 HG002 chr3:68717174:A:G 2,.,. 0.000667567 1 90 -1 -1 -1 53,.,. 1,.,. dominant HG002 HG002 chr3:69506504:A:G 1,.,. -1 -1 -1 -1 -1 -1 FRMD4B 50_intron 31,.,. 0.387097,.,. FRMD4B/intron/ 0.0132 0.4588 0.6370 2 dominant HG002 HG002 chr3:69632804:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr3:69950446:AGT:A 1,.,. -1 -1 -1 -1 -1 -1 MITF 50_intron 34,.,. 0.382353,.,. MITF/intron/ 0.9920 0.3175 0.4820 1 Waardenburg syndrome type 2A;Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness;Tietz syndrome;Melanoma, cutaneous malignant, susceptibility to, 8 0.000 dominant HG002 HG002 chr3:70631197:T:TGAAA 1,.,. 3.03214e-05 0 1 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr3:70701225:C:A 1,.,. 1.31513e-05 0 2 -1 -1 -1 41,.,. 0.609756,.,. dominant HG002 HG002 chr3:70857156:C:G 1,.,. 6.57056e-06 0 1 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr3:70894498:A:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.612903,.,. dominant HG002 HG002 chr3:71201759:A:C 1,.,. 6.57315e-06 0 1 -1 -1 -1 FOXP1 50_intron 37,.,. 0.540541,.,. FOXP1/intron/;FOXP1/non_coding/ 1.0000 0.1754 0.2790 0 Intellectual disability-severe speech delay-mild dysmorphism syndrome 0.000 dominant HG002 HG002 chr3:71314528:A:AATATATAT 1,.,. -1 -1 -1 -1 -1 -1 FOXP1 50_intron 39,.,. 0.410256,.,. FOXP1/intron/;FOXP1/non_coding/ 1.0000 0.1754 0.2790 0 Intellectual disability-severe speech delay-mild dysmorphism syndrome 0.000 recessive HG002 HG002 chr3:71881327:A:ACTG 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr3:71881328:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr3:72074442:TATATATATATAGGATATATATATATAGGATATATATATATATAGGATATATATATTTAGGATATATATATAGGATATATATATATAGGATATATATATAGGATATATATATAGGATATATATATAGGATATATATATAGGATATATATATAGGATATATATATAGGATATATATATATAGG:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr3:72102731:TTCCTTCCC:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.444444,.,. dominant HG002 HG002 chr3:72190848:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.413043,.,. dominant HG002 HG002 chr3:72190988:G:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr3:72280397:T:TTTCCTTCC 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.392857,.,. dominant HG002 HG002 chr3:72285052:ACCTCC:A 1,.,. 2.54807e-05 0 3 -1 -1 -1 24,.,. 0.583333,.,. dominant HG002 HG002 chr3:72285059:A:G 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.583333,.,. dominant HG002 HG002 chr3:72285061:G:T 1,.,. 6.84119e-05 0 3 -1 -1 -1 24,.,. 0.583333,.,. dominant HG002 HG002 chr3:72285062:A:G 1,.,. 2.63217e-05 0 4 -1 -1 -1 24,.,. 0.583333,.,. dominant HG002 HG002 chr3:72327457:T:TATCC 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr3:72376910:G:GATT 1,.,. 0.000342936 0 1 -1 -1 -1 RYBP 36_3_prime_utr 41,.,. 0.414634,.,. RYBP/3_prime_utr/ENST00000477973 0.9997 0.0000 0.1720 0 dominant HG002 HG002 chr3:72435089:A:C 1,.,. 6.65956e-06 0 1 -1 -1 -1 RYBP 50_intron 35,.,. 0.485714,.,. RYBP/intron/ 0.9997 0.0000 0.1720 0 dominant HG002 HG002 chr3:72992355:C:T 1,.,. -1 -1 -1 -1 -1 -1 GXYLT2 50_intron 33,.,. 0.484848,.,. GXYLT2/intron/ 0.0000 1.1126 1.3990 7 dominant HG002 HG002 chr3:73021232:AATTTTTTTTTT:A 1,.,. 8.71596e-06 0 1 -1 -1 -1 PPP4R2 50_intron 32,.,. 0.53125,.,. PPP4R2/intron/;PPP4R2/non_coding/ 0.0501 0.4876 0.8070 3 dominant HG002 HG002 chr3:73021251:G:T 1,.,. -1 -1 -1 -1 -1 -1 PPP4R2 50_intron 36,.,. 0.583333,.,. PPP4R2/intron/;PPP4R2/non_coding/ 0.0501 0.4876 0.8070 3 dominant HG002 HG002 chr3:73565796:C:A 1,.,. -1 -1 -1 -1 -1 -1 PDZRN3 50_intron 28,.,. 0.392857,.,. PDZRN3/intron/ 0.3861 0.4028 0.5910 2 dominant HG002 HG002 chr3:73565800:C:A 1,.,. -1 -1 -1 -1 -1 -1 PDZRN3 50_intron 28,.,. 0.464286,.,. PDZRN3/intron/ 0.3861 0.4028 0.5910 2 dominant HG002 HG002 chr3:73584462:T:G 1,.,. -1 -1 -1 -1 -1 -1 PDZRN3 50_intron 29,.,. 0.482759,.,. PDZRN3/intron/ 0.3861 0.4028 0.5910 2 dominant HG002 HG002 chr3:73921592:A:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr3:74019111:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. recessive HG002 HG002 chr3:74430366:T:G 2,.,. 0.000492417 0 75 0.000700771 0 2 CNTN3 50_intron 50,.,. 1,.,. CNTN3/intron/ 0.0000 0.5209 0.6680 2 recessive HG002 HG002 chr3:74585437:T:C 2,.,. 0.000610613 0 93 0.000700771 0 2 46,.,. 1,.,. recessive HG002 HG002 chr3:74617801:TA:T 2,.,. 0.00103147 0 157 0.00105116 0 3 31,.,. 1,.,. recessive HG002 HG002 chr3:74617806:AT:A 2,.,. 0.001031 0 157 0.00105116 0 3 31,.,. 1,.,. recessive HG002 HG002 chr3:74644947:G:C 2,.,. 0.000577966 0 88 0.000700771 0 2 51,.,. 1,.,. recessive HG002 HG002 chr3:74670028:T:C 2,.,. 0.000744244 0 113 0.00105116 0 3 35,.,. 1,.,. recessive HG002 HG002 chr3:74839424:C:T 2,.,. 0.000584634 0 89 0.000700771 0 2 48,.,. 1,.,. recessive HG002 HG002 chr3:74879610:C:T 2,.,. 0.00236668 2 360 0.00140154 0 4 47,.,. 1,.,. recessive HG002 HG002 chr3:74917921:G:A 2,.,. 0.00278603 2 424 0.00140154 0 4 50,.,. 1,.,. recessive HG002 HG002 chr3:74943802:A:C 2,.,. 0.00215413 2 328 0.000700771 0 2 52,.,. 1,.,. recessive HG002 HG002 chr3:74954083:A:G 2,.,. 0.00215322 2 328 0.000700771 0 2 48,.,. 1,.,. recessive HG002 HG002 chr3:74966113:C:T 2,.,. 0.00207673 2 316 0.000700771 0 2 48,.,. 1,.,. recessive HG002 HG002 chr3:75000033:G:C 2,.,. -1 -1 -1 0.00315347 0 9 47,.,. 1,.,. recessive HG002 HG002 chr3:75000034:G:A 2,.,. -1 -1 -1 0.00315347 0 9 47,.,. 1,.,. recessive HG002 HG002 chr3:75000036:A:G 2,.,. -1 -1 -1 0.00315347 0 9 48,.,. 1,.,. recessive HG002 HG002 chr3:75007773:T:C 2,.,. 0.000676199 0 103 0.000700771 0 2 41,.,. 1,.,. recessive HG002 HG002 chr3:75020851:C:T 2,.,. 0.00213096 2 324 0.000700771 0 2 45,.,. 1,.,. recessive HG002 HG002 chr3:75021872:C:A 2,.,. 0.00202395 2 308 0.000700771 0 2 43,.,. 1,.,. recessive HG002 HG002 chr3:75054739:G:T 2,.,. 0.00202432 2 308 0.000700771 0 2 47,.,. 1,.,. recessive HG002 HG002 chr3:75060597:A:C 2,.,. 0.00181983 1 277 0.000700771 0 2 49,.,. 1,.,. recessive HG002 HG002 chr3:75125518:G:A 2,.,. 0.00220707 2 336 0.000700771 0 2 35,.,. 1,.,. recessive HG002 HG002 chr3:75159090:CTA:C 2,.,. 0.00058445 0 89 0.000700771 0 2 47,.,. 1,.,. recessive HG002 HG002 chr3:75163664:G:A 2,.,. 0.00212274 2 323 0.000700771 0 2 48,.,. 1,.,. recessive HG002 HG002 chr3:75174468:C:G 2,.,. 0.00109491 0 166 0.000700771 0 2 44,.,. 1,.,. recessive HG002 HG002 chr3:75178545:A:T 2,.,. 0.00109681 0 167 0.000700771 0 2 41,.,. 1,.,. recessive HG002 HG002 chr3:75179197:G:C 2,.,. 0.0018521 1 282 0.000700771 0 2 42,.,. 1,.,. recessive HG002 HG002 chr3:75236878:C:A 2,.,. 0.000735729 0 112 0.000700771 0 2 45,.,. 1,.,. recessive HG002 HG002 chr3:75272267:G:A 2,.,. 0.00227288 2 346 0.000700771 0 2 45,.,. 1,.,. recessive HG002 HG002 chr3:75280957:A:G 2,.,. 0.00244837 2 373 0.00105116 0 3 46,.,. 1,.,. dominant HG002 HG002 chr3:75544887:AAAGAGTGCTCTTC:A 1,.,. 3.27654e-05 0 2 -1 -1 -1 AC133041.1 53_non_coding 34,.,. 0.5,.,. AC133041.1/non_coding/ dominant HG002 HG002 chr3:75559919:T:G 1,.,. -1 -1 -1 -1 -1 -1 AC133041.1 53_non_coding 29,.,. 0.62069,.,. AC133041.1/non_coding/ dominant HG002 HG002 chr3:75569749:T:A 1,.,. -1 -1 -1 -1 -1 -1 AC133041.1 53_non_coding 23,.,. 0.652174,.,. AC133041.1/non_coding/ dominant HG002 HG002 chr3:75569755:T:A 1,.,. -1 -1 -1 -1 -1 -1 AC133041.1 53_non_coding 22,.,. 0.636364,.,. AC133041.1/non_coding/ dominant HG002 HG002 chr3:75571269:A:AAGCTT 1,.,. -1 -1 -1 -1 -1 -1 AC133041.1 53_non_coding 24,.,. 0.625,.,. AC133041.1/non_coding/ dominant HG002 HG002 chr3:75571274:C:A 1,.,. -1 -1 -1 -1 -1 -1 AC133041.1 53_non_coding 23,.,. 0.652174,.,. AC133041.1/non_coding/ dominant HG002 HG002 chr3:75709006:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 ZNF717 53_non_coding 42,.,. 0.357143,.,. ZNF717/non_coding/ 0.0148 0.7420 1.4500 8 dominant HG002 HG002 chr3:75709007:C:T 1,.,. 1.39766e-05 0 2 -1 -1 -1 ZNF717 53_non_coding 37,.,. 0.459459,.,. ZNF717/non_coding/ 0.0148 0.7420 1.4500 8 dominant HG002 HG002 chr3:75729025:G:GCATTTGTGTCAGGTGGGCAGAGGGGTGAGAACAGACTGCTACAGTCATCCATGCCTTTGGCTCAGTGAATCTCATTTATACATAACATAGACAAACAGGGAGGGTGAACAATCAGATACA 1,.,. -1 -1 -1 0.00140154 0 4 ZNF717 53_non_coding 37,.,. 0.324324,.,. ZNF717/non_coding/ 0.0148 0.7420 1.4500 8 dominant HG002 HG002 chr3:76038792:ATGTATG:A 1,.,. 2.08429e-05 0 1 -1 -1 -1 ROBO2 50_intron 40,.,. 0.625,.,. ROBO2/intron/ 1.0000 0.3264 0.4120 1 Vesicoureteral reflux 2 0.000 dominant HG002 HG002 chr3:76269784:A:C 1,.,. 1.31569e-05 0 2 -1 -1 -1 ROBO2 50_intron 48,.,. 0.5625,.,. ROBO2/intron/ 1.0000 0.3264 0.4120 1 Vesicoureteral reflux 2 0.000 recessive HG002 HG002 chr3:76272971:A:T 2,.,. -1 -1 -1 -1 -1 -1 ROBO2 50_intron 49,.,. 1,.,. ROBO2/intron/ 1.0000 0.3264 0.4120 1 Vesicoureteral reflux 2 0.000 dominant HG002 HG002 chr3:76811826:CTTCCTTCCTTCT:C 1,.,. -1 -1 -1 0.00105116 0 3 ROBO2 50_intron 37,.,. 0.351351,.,. ROBO2/intron/;ROBO2/non_coding/ 1.0000 0.3264 0.4120 1 Vesicoureteral reflux 2 0.000 recessive HG002 HG002 chr3:77270574:A:G 2,.,. -1 -1 -1 -1 -1 -1 ROBO2 50_intron 34,.,. 1,.,. ROBO2/intron/ 1.0000 0.3264 0.4120 1 Vesicoureteral reflux 2 0.000 recessive HG002 HG002 chr3:77353098:T:TAGGTTGTAATC 2,.,. -1 -1 -1 -1 -1 -1 ROBO2 50_intron 46,.,. 1,.,. ROBO2/intron/ 1.0000 0.3264 0.4120 1 Vesicoureteral reflux 2 0.000 recessive HG002 HG002 chr3:77353102:T:G 2,.,. -1 -1 -1 -1 -1 -1 ROBO2 50_intron 46,.,. 1,.,. ROBO2/intron/ 1.0000 0.3264 0.4120 1 Vesicoureteral reflux 2 0.000 recessive HG002 HG002 chr3:77353104:A:T 2,.,. -1 -1 -1 -1 -1 -1 ROBO2 50_intron 45,.,. 1,.,. ROBO2/intron/ 1.0000 0.3264 0.4120 1 Vesicoureteral reflux 2 0.000 dominant HG002 HG002 chr3:77403613:TGTGTA:T 1,.,. -1 -1 -1 -1 -1 -1 ROBO2 50_intron 44,.,. 0.409091,.,. ROBO2/intron/ 1.0000 0.3264 0.4120 1 Vesicoureteral reflux 2 0.000 dominant HG002 HG002 chr3:77430443:C:A 1,.,. -1 -1 -1 -1 -1 -1 ROBO2 50_intron 42,.,. 0.571429,.,. ROBO2/intron/ 1.0000 0.3264 0.4120 1 Vesicoureteral reflux 2 0.000 dominant HG002 HG002 chr3:77430445:TATTAATGTATTAAAAATTTTATTGATAGGA:T 1,.,. -1 -1 -1 -1 -1 -1 ROBO2 50_intron 42,.,. 0.571429,.,. ROBO2/intron/ 1.0000 0.3264 0.4120 1 Vesicoureteral reflux 2 0.000 dominant HG002 HG002 chr3:77468137:A:G 1,.,. -1 -1 -1 -1 -1 -1 ROBO2 50_intron 53,.,. 0.45283,.,. ROBO2/intron/ 1.0000 0.3264 0.4120 1 Vesicoureteral reflux 2 0.000 dominant HG002 HG002 chr3:77609444:G:T 1,.,. -1 -1 -1 -1 -1 -1 ROBO2 50_intron 52,.,. 0.442308,.,. ROBO2/intron/;ROBO2/non_coding/ 1.0000 0.3264 0.4120 1 Vesicoureteral reflux 2 0.000 dominant HG002 HG002 chr3:77662925:A:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.377778,.,. dominant HG002 HG002 chr3:77662926:C:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.377778,.,. dominant HG002 HG002 chr3:77878873:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.384615,.,. dominant HG002 HG002 chr3:78127795:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. recessive HG002 HG002 chr3:78752173:A:T 2,.,. -1 -1 -1 -1 -1 -1 ROBO1 50_intron 44,.,. 1,.,. ROBO1/intron/ 0.0000 0.7386 0.8560 3 Neurooculorenal syndrome;Pituitary hormone deficiency, combined or isolated, 8;Nystagmus, congenital, autosomal recessive 0.000 recessive HG002 HG002 chr3:78752174:T:TTAATTTTG 2,.,. -1 -1 -1 -1 -1 -1 ROBO1 50_intron 42,.,. 1,.,. ROBO1/intron/ 0.0000 0.7386 0.8560 3 Neurooculorenal syndrome;Pituitary hormone deficiency, combined or isolated, 8;Nystagmus, congenital, autosomal recessive 0.000 recessive HG002 HG002 chr3:79135038:T:TAA 2,.,. -1 -1 -1 0.00630694 0 18 ROBO1 50_intron 29,.,. 1,.,. ROBO1/intron/ 0.0000 0.7386 0.8560 3 Neurooculorenal syndrome;Pituitary hormone deficiency, combined or isolated, 8;Nystagmus, congenital, autosomal recessive 0.000 dominant HG002 HG002 chr3:79475965:T:C 1,.,. -1 -1 -1 -1 -1 -1 ROBO1 50_intron 58,.,. 0.362069,.,. ROBO1/intron/ 0.0000 0.7386 0.8560 3 Neurooculorenal syndrome;Pituitary hormone deficiency, combined or isolated, 8;Nystagmus, congenital, autosomal recessive 0.000 dominant HG002 HG002 chr3:79575208:CAGAT:C 1,.,. -1 -1 -1 -1 -1 -1 ROBO1 50_intron 45,.,. 0.6,.,. ROBO1/intron/ 0.0000 0.7386 0.8560 3 Neurooculorenal syndrome;Pituitary hormone deficiency, combined or isolated, 8;Nystagmus, congenital, autosomal recessive 0.000 dominant HG002 HG002 chr3:79575214:T:A 1,.,. -1 -1 -1 -1 -1 -1 ROBO1 50_intron 52,.,. 0.519231,.,. ROBO1/intron/ 0.0000 0.7386 0.8560 3 Neurooculorenal syndrome;Pituitary hormone deficiency, combined or isolated, 8;Nystagmus, congenital, autosomal recessive 0.000 dominant HG002 HG002 chr3:79674840:G:T 1,.,. 7.16661e-06 0 1 -1 -1 -1 ROBO1 50_intron 39,.,. 0.358974,.,. ROBO1/intron/ 0.0000 0.7386 0.8560 3 Neurooculorenal syndrome;Pituitary hormone deficiency, combined or isolated, 8;Nystagmus, congenital, autosomal recessive 0.000 dominant HG002 HG002 chr3:79735885:AAC:A 1,.,. 2.04399e-05 0 2 -1 -1 -1 ROBO1 50_intron 44,.,. 0.454545,.,. ROBO1/intron/ 0.0000 0.7386 0.8560 3 Neurooculorenal syndrome;Pituitary hormone deficiency, combined or isolated, 8;Nystagmus, congenital, autosomal recessive 0.000 dominant HG002 HG002 chr3:79770370:GATGTATATATATATAT:G 1,.,. 3.52808e-05 0 1 -1 -1 -1 38,.,. 0.394737,.,. dominant HG002 HG002 chr3:79821219:A:ATATG 1,.,. 8.08865e-05 0 2 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr3:80341085:A:ATAAAC 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr3:80401856:A:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr3:80401859:CAAGCTAGGAGCT:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr3:80401873:G:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr3:80438408:G:GTCAT 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr3:80438410:A:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. recessive HG002 HG002 chr3:81021019:ATAGATC:A 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. dominant HG002 HG002 chr3:81140801:A:AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGAATGAGGAAGGAAGGAAGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGG 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.407407,.,. dominant HG002 HG002 chr3:81140863:G:GAGGGAGGAAGGAAGGAAGAAAGGAAGGA 1,.,. 2.163e-05 0 3 -1 -1 -1 55,.,. 0.454545,.,. dominant HG002 HG002 chr3:81313080:CACA:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.325,.,. dominant HG002 HG002 chr3:81608420:A:G 1,.,. -1 -1 -1 -1 -1 -1 GBE1 50_intron 47,.,. 0.404255,.,. GBE1/intron/ 0.0000 0.8730 1.2110 6 Glycogen storage disease, type IV;Adult polyglucosan body disease 0.000 dominant HG002 HG002 chr3:82187768:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr3:82251352:C:CCAA 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr3:82251353:A:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr3:82486648:C:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.404255,.,. dominant HG002 HG002 chr3:83309417:T:TAGG 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr3:83309418:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr3:83434790:C:G 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.653846,.,. dominant HG002 HG002 chr3:83661375:G:C 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.576923,.,. dominant HG002 HG002 chr3:84557480:G:T 1,.,. 7.77726e-06 0 1 -1 -1 -1 36,.,. 0.333333,.,. dominant HG002 HG002 chr3:84557482:G:GTTGTGT 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.354839,.,. recessive HG002 HG002 chr3:85267140:C:CGTAAA 2,.,. -1 -1 -1 -1 -1 -1 CADM2 50_intron 37,.,. 1,.,. CADM2/intron/ 0.9680 0.3120 0.5160 1 recessive HG002 HG002 chr3:85267141:A:G 2,.,. 1.32245e-05 0 2 -1 -1 -1 CADM2 50_intron 39,.,. 1,.,. CADM2/intron/ 0.9680 0.3120 0.5160 1 dominant HG002 HG002 chr3:86091012:G:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. recessive HG002 HG002 chr3:86507220:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr3:86786352:C:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr3:87041044:CAG:C 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.442308,.,. dominant HG002 HG002 chr3:87041047:T:G 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.45283,.,. dominant HG002 HG002 chr3:87063068:C:T 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.481481,.,. dominant HG002 HG002 chr3:87161400:C:CACAGACACAG 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.24,.,. dominant HG002 HG002 chr3:87316065:T:TTACATGTATGATTACATGTATGATTACATGTATGAATACATGTATGATTACATGTATGATTACATGTATGAA 1,.,. 3.65297e-05 0 2 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr3:87346017:C:T 1,.,. 6.57151e-06 0 1 -1 -1 -1 25,.,. 0.48,.,. dominant HG002 HG002 chr3:87481371:GTACCA:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.553191,.,. recessive HG002 HG002 chr3:87481379:A:C 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr3:87618438:CATGTAACA:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr3:87618448:T:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr3:88933004:C:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr3:88959586:TAAACCAAGATAAATGG:T 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.518519,.,. dominant HG002 HG002 chr3:88959604:A:G 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.518519,.,. dominant HG002 HG002 chr3:89295383:GCACCC:G 1,.,. -1 -1 -1 -1 -1 -1 EPHA3 50_intron 58,.,. 0.465517,.,. EPHA3/intron/ 0.8009 0.3902 0.5080 1 dominant HG002 HG002 chr3:89464955:G:C 1,.,. -1 -1 -1 -1 -1 -1 EPHA3 50_intron 44,.,. 0.318182,.,. EPHA3/intron/ 0.8009 0.3902 0.5080 1 dominant HG002 HG002 chr3:89706108:C:A 1,.,. 7.01745e-06 0 1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr3:90173190:T:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr3:90432926:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr3:90540941:C:T 1,.,. -1 -1 -1 0.00140154 0 4 49,.,. 0.428571,.,. dominant HG002 HG002 chr3:90583360:G:C 1,.,. -1 -1 -1 -1 -1 -1 72,.,. 0.375,.,. recessive HG002 HG002 chr3:90677004:G:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr3:90911786:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr3:90913673:C:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr3:91122462:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr3:91157317:T:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr3:91157318:A:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr3:91163868:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr3:91163880:T:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr3:91163882:A:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr3:91171279:C:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr3:91181145:A:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr3:91187684:C:G 2,.,. -1 -1 -1 0.0024527 3 7 29,.,. 1,.,. recessive HG002 HG002 chr3:91187685:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr3:91300741:C:T 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.428571,.,. dominant HG002 HG002 chr3:91349819:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr3:91357384:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr3:91372920:C:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr3:91396373:A:AT 1,.,. -1 -1 -1 0.00105116 0 3 ABBA01000935.2 53_non_coding 48,.,. 0.3125,.,. ABBA01000935.2/non_coding/ dominant HG002 HG002 chr3:91446231:A:T 1,.,. -1 -1 -1 -1 -1 -1 ABBA01000935.2 53_non_coding 40,.,. 0.425,.,. ABBA01000935.2/non_coding/ dominant HG002 HG002 chr3:91477977:A:G 1,.,. -1 -1 -1 -1 -1 -1 ABBA01000935.2 53_non_coding 38,.,. 0.421053,.,. ABBA01000935.2/non_coding/ dominant HG002 HG002 chr3:91529713:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.65,.,. dominant HG002 HG002 chr3:91540154:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.594595,.,. dominant HG002 HG002 chr3:91543054:A:C 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.264151,.,. recessive HG002 HG002 chr3:91612360:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr3:91658975:A:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr3:91739931:T:C 2,.,. -1 -1 -1 0.00630694 4 18 11,.,. 1,.,. recessive HG002 HG002 chr3:91740171:T:C 2,.,. -1 -1 -1 0.0024527 1 7 11,.,. 1,.,. recessive HG002 HG002 chr3:91763937:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr3:92080006:AAG:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr3:92080009:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr3:92089113:G:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr3:92089121:C:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr3:92089198:A:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr3:92117493:A:C 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr3:92117496:T:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr3:92287555:CT:C 2,.,. -1 -1 -1 0.00105116 1 3 15,.,. 1,.,. recessive HG002 HG002 chr3:92287577:TA:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chr3:92503356:A:C 1,.,. -1 -1 -1 0.00105116 0 3 310,.,. 0.2,.,. recessive HG002 HG002 chr3:92546770:C:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr3:92612822:C:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr3:92632809:A:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr3:92765704:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr3:93010708:G:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr3:93030396:A:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr3:93039070:A:G 2,.,. -1 -1 -1 0.0161177 3 46 8,.,. 1,.,. recessive HG002 HG002 chr3:93041963:A:G 2,.,. -1 -1 -1 0.0224247 4 64 7,.,. 1,.,. recessive HG002 HG002 chr3:93042094:T:G 2,.,. -1 -1 -1 0.0175193 0 50 7,.,. 1,.,. recessive HG002 HG002 chr3:93230889:G:A 2,.,. -1 -1 -1 0.00595655 2 17 7,.,. 1,.,. recessive HG002 HG002 chr3:93475190:G:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chr3:93956561:C:CACACACACAA 1,.,. -1 -1 -1 -1 -1 -1 PROS1 50_intron 39,.,. 0.25641,.,. PROS1/intron/;PROS1/non_coding/ 0.7469 0.3868 0.5300 1 Thrombophilia due to protein S deficiency, autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive 0.000 dominant HG002 HG002 chr3:94554632:ATATATATT:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr3:94866728:G:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr3:95134890:G:GAGGGGCC 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr3:95134892:A:G 1,.,. 6.59013e-06 0 1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr3:95198169:CACAGACACAT:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr3:95198181:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr3:95201011:T:A 1,.,. 1.06669e-05 0 1 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr3:95324710:A:ACT 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.577778,.,. dominant HG002 HG002 chr3:95484265:AAAT:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr3:96001721:A:AAAAC 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.416667,.,. dominant HG002 HG002 chr3:96082559:C:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.357143,.,. dominant HG002 HG002 chr3:96082561:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.372093,.,. dominant HG002 HG002 chr3:96210624:G:A 1,.,. -1 -1 -1 0.00140154 0 4 40,.,. 0.475,.,. dominant HG002 HG002 chr3:96328270:G:C 1,.,. 4.14525e-05 0 1 -1 -1 -1 37,.,. 0.621622,.,. dominant HG002 HG002 chr3:96328276:G:C 1,.,. 4.11523e-05 0 1 -1 -1 -1 36,.,. 0.611111,.,. dominant HG002 HG002 chr3:96328278:GTGTGTCTGTGTC:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.621622,.,. dominant HG002 HG002 chr3:96333987:A:ATC 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr3:96369944:TATA:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr3:96560472:C:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. recessive HG002 HG002 chr3:96621809:T:TACA 2,.,. -1 -1 -1 0.000700771 0 2 40,.,. 1,.,. recessive HG002 HG002 chr3:96651599:ACTCT:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr3:96651604:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr3:96702509:TTCA:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr3:96702513:T:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr3:97504818:A:G 1,.,. -1 -1 -1 -1 -1 -1 EPHA6 50_intron 36,.,. 0.5,.,. EPHA6/intron/ 0.0001 0.4907 0.6330 2 dominant HG002 HG002 chr3:97691175:C:T 1,.,. -1 -1 -1 -1 -1 -1 EPHA6 50_intron 36,.,. 0.555556,.,. EPHA6/intron/ 0.0001 0.4907 0.6330 2 recessive HG002 HG002 chr3:98180362:CCA:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr3:98180365:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr3:98257929:T:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr3:98257930:AATT:A 1,.,. 2.26829e-05 0 1 -1 -1 -1 46,.,. 0.434783,.,. dominant HG002 HG002 chr3:98259500:C:CCTCT 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.46,.,. recessive HG002 HG002 chr3:98436283:A:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. dominant HG002 HG002 chr3:98569605:C:T 1,.,. -1 -1 -1 -1 -1 -1 AC021660.3 50_intron 42,.,. 0.452381,.,. AC021660.3/intron/ dominant HG002 HG002 chr3:98782640:A:C 1,.,. -1 -1 -1 -1 -1 -1 ST3GAL6;PDLIM1P4 50_intron 29,.,. 0.413793,.,. ST3GAL6/intron/;ST3GAL6/non_coding/;PDLIM1P4/non_coding/ 0.0002 0.6421 0.9630 4 dominant HG002 HG002 chr3:98824314:C:CGATA 1,.,. -1 -1 -1 -1 -1 -1 DCBLD2 50_intron 39,.,. 0.410256,.,. DCBLD2/intron/;DCBLD2/non_coding/ 0.0000 0.6412 0.8080 3 dominant HG002 HG002 chr3:99015094:A:AAAAC 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.434783,.,. dominant HG002 HG002 chr3:99207826:T:TATAGGTA 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr3:99207829:T:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr3:99565519:C:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. recessive HG002 HG002 chr3:99613808:C:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr3:99910787:G:T 1,.,. 1.1966e-05 0 1 -1 -1 -1 CMSS1 50_intron 32,.,. 0.40625,.,. CMSS1/intron/;CMSS1/non_coding/ 0.0007 0.6530 1.0210 5 dominant HG002 HG002 chr3:100373683:G:GGTGC 1,.,. -1 -1 -1 -1 -1 -1 TOMM70 50_intron 51,.,. 0.647059,.,. TOMM70/intron/;TOMM70/non_coding/ 1.0000 0.1757 0.2980 0 dominant HG002 HG002 chr3:100373684:T:A 1,.,. -1 -1 -1 -1 -1 -1 TOMM70 50_intron 50,.,. 0.66,.,. TOMM70/intron/;TOMM70/non_coding/ 1.0000 0.1757 0.2980 0 dominant HG002 HG002 chr3:101164426:C:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.52,.,. dominant HG002 HG002 chr3:101829877:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 NFKBIZ 50_intron 33,.,. 0.515152,.,. NFKBIZ/intron/ 1.0000 0.2563 0.3800 0 dominant HG002 HG002 chr3:101930934:TATC:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr3:101930938:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr3:101997344:T:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.510204,.,. dominant HG002 HG002 chr3:101997345:G:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.510204,.,. dominant HG002 HG002 chr3:101997347:GTCCAAGCT:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.510204,.,. dominant HG002 HG002 chr3:102005325:T:A 1,.,. 1.57858e-05 0 2 -1 -1 -1 37,.,. 0.567568,.,. recessive HG002 HG002 chr3:102186713:TAATTAAGTAGGGA:T 2,.,. -1 -1 -1 -1 -1 -1 ZPLD1 50_intron 51,.,. 1,.,. ZPLD1/intron/;ZPLD1/non_coding/ 0.0000 0.7564 1.0370 5 recessive HG002 HG002 chr3:102186727:C:G 2,.,. -1 -1 -1 -1 -1 -1 ZPLD1 50_intron 51,.,. 1,.,. ZPLD1/intron/;ZPLD1/non_coding/ 0.0000 0.7564 1.0370 5 dominant HG002 HG002 chr3:102565094:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.657895,.,. dominant HG002 HG002 chr3:103096773:G:T 1,.,. 3.54384e-05 0 3 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr3:103096775:GTTAGTC:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr3:103137962:C:CAAATGAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA 1,.,. -1 -1 -1 0.00105116 0 3 19,.,. 0.578947,.,. dominant HG002 HG002 chr3:103153677:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr3:103648463:AGAGTTCC:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. recessive HG002 HG002 chr3:103742681:T:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr3:103742682:TTCCAGCG:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr3:103742690:T:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. dominant HG002 HG002 chr3:104006028:TCACTAGC:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr3:104006036:T:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr3:104113450:GGGGAGGGC:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr3:104113461:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. recessive HG002 HG002 chr3:104187889:A:G 2,.,. 7.54375e-05 0 1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr3:104187892:TACTGAGGTATATA:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr3:104247003:A:AACAC 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.30303,.,. dominant HG002 HG002 chr3:104247005:G:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.3125,.,. dominant HG002 HG002 chr3:104247006:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.30303,.,. recessive HG002 HG002 chr3:104499876:A:AACTAGCTGG 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr3:104499878:C:A 2,.,. 6.57549e-06 0 1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr3:104704188:C:CAT 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.380952,.,. dominant HG002 HG002 chr3:104704399:A:T 1,.,. 1.42544e-05 0 2 -1 -1 -1 47,.,. 0.404255,.,. dominant HG002 HG002 chr3:105138912:C:CAAAAT 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr3:105138923:A:G 1,.,. 6.75247e-06 0 1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr3:105274134:A:ATACATTTTACATATAG 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.586957,.,. dominant HG002 HG002 chr3:105274137:G:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.586957,.,. dominant HG002 HG002 chr3:105496330:GAAAGGACT:G 1,.,. 6.59022e-06 0 1 -1 -1 -1 ALCAM 50_intron 41,.,. 0.390244,.,. ALCAM/intron/;ALCAM/non_coding/ 0.9952 0.3196 0.4740 1 dominant HG002 HG002 chr3:105919775:G:T 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.363636,.,. recessive HG002 HG002 chr3:106111746:C:CCT 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr3:106111747:T:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr3:106606059:AGAT:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr3:106606066:C:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. dominant HG002 HG002 chr3:106759985:G:C 1,.,. 6.57237e-06 0 1 -1 -1 -1 48,.,. 0.541667,.,. dominant HG002 HG002 chr3:108543936:A:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.387755,.,. dominant HG002 HG002 chr3:108543938:A:AAACTAG 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.387755,.,. dominant HG002 HG002 chr3:108789347:A:ATGTG 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr3:108815576:CCTTGTA:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr3:108850943:C:A 1,.,. 6.57324e-06 0 1 -1 -1 -1 TRAT1 50_intron 45,.,. 0.4,.,. TRAT1/intron/ 0.0023 0.9869 1.7340 8 dominant HG002 HG002 chr3:109036264:T:A 1,.,. -1 -1 -1 -1 -1 -1 MORC1 50_intron 50,.,. 0.48,.,. MORC1/intron/ 0.0256 0.4350 0.5720 1 dominant HG002 HG002 chr3:109072619:G:A 1,.,. 2.62975e-05 0 4 -1 -1 -1 MORC1 50_intron 49,.,. 0.591837,.,. MORC1/intron/ 0.0256 0.4350 0.5720 1 dominant HG002 HG002 chr3:109933680:T:C 1,.,. 6.58207e-06 0 1 -1 -1 -1 27,.,. 0.666667,.,. dominant HG002 HG002 chr3:110434995:ACTAATG:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr3:110435002:C:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr3:110538033:TCCA:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.65,.,. dominant HG002 HG002 chr3:110538037:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.65,.,. dominant HG002 HG002 chr3:110538406:TATG:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.634146,.,. dominant HG002 HG002 chr3:110636496:T:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. recessive HG002 HG002 chr3:110683559:TAATTCAAA:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. dominant HG002 HG002 chr3:110866408:G:GTGTGTGTGTGTGTT 1,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.409836,.,. dominant HG002 HG002 chr3:111382160:C:T 1,.,. 1.97639e-05 0 3 -1 -1 -1 CD96 50_intron 51,.,. 0.568627,.,. CD96/intron/ 0.0004 0.7298 1.1600 6 C syndrome 0.000 recessive HG002 HG002 chr3:111415079:G:GGTAGTTGCTGTCC 2,.,. -1 -1 -1 -1 -1 -1 CD96 50_intron 43,.,. 1,.,. CD96/intron/ 0.0004 0.7298 1.1600 6 C syndrome 0.000 recessive HG002 HG002 chr3:111415083:T:G 2,.,. -1 -1 -1 -1 -1 -1 CD96 50_intron 42,.,. 1,.,. CD96/intron/ 0.0004 0.7298 1.1600 6 C syndrome 0.000 recessive HG002 HG002 chr3:111415084:A:AC 2,.,. -1 -1 -1 -1 -1 -1 CD96 50_intron 43,.,. 1,.,. CD96/intron/ 0.0004 0.7298 1.1600 6 C syndrome 0.000 dominant HG002 HG002 chr3:111649685:A:G 1,.,. 6.57263e-06 0 1 -1 -1 -1 CD96 50_intron 55,.,. 0.472727,.,. CD96/intron/ 0.0004 0.7298 1.1600 6 C syndrome 0.000 dominant HG002 HG002 chr3:111819263:G:A 1,.,. -1 -1 -1 -1 -1 -1 PLCXD2 50_intron 43,.,. 0.418605,.,. PLCXD2/intron/ 0.0000 0.6919 0.9960 5 dominant HG002 HG002 chr3:112621161:G:C 1,.,. -1 -1 -1 -1 -1 -1 CCDC80 50_intron 48,.,. 0.4375,.,. CCDC80/intron/ 0.0000 0.5854 0.7490 3 dominant HG002 HG002 chr3:112681728:T:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr3:112681732:A:T 1,.,. 6.58909e-06 0 1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr3:112920614:A:AAAATAAAT 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr3:112966638:T:C 1,.,. -1 -1 -1 -1 -1 -1 CD200R1 50_intron 42,.,. 0.47619,.,. CD200R1/intron/ 0.0005 0.7071 1.1240 6 dominant HG002 HG002 chr3:113199525:TC:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr3:113268825:C:T 1,.,. -1 -1 -1 -1 -1 -1 BOC 50_intron 35,.,. 0.342857,.,. BOC/intron/;BOC/non_coding/ 0.0000 0.6503 0.7890 3 recessive HG002 HG002 chr3:113928969:TTC:T 2,.,. -1 -1 -1 -1 -1 -1 GRAMD1C 50_intron 52,.,. 1,.,. GRAMD1C/non_coding/;GRAMD1C/intron/ 0.0802 1.0325 1.8830 9 recessive HG002 HG002 chr3:113928972:T:C 2,.,. -1 -1 -1 -1 -1 -1 GRAMD1C 50_intron 52,.,. 0.980769,.,. GRAMD1C/non_coding/;GRAMD1C/intron/ 0.0802 1.0325 1.8830 9 dominant HG002 HG002 chr3:114048656:C:A 1,.,. -1 -1 -1 -1 -1 -1 CCDC191 50_intron 44,.,. 0.522727,.,. CCDC191/intron/;CCDC191/non_coding/ 0.0000 0.8513 1.0290 5 dominant HG002 HG002 chr3:114235469:A:C 1,.,. -1 -1 -1 0.00140154 0 4 ZNF80 36_3_prime_utr 38,.,. 0.368421,.,. ZNF80/3_prime_utr/ENST00000482457 0.3070 0.0000 1.8780 9 dominant HG002 HG002 chr3:114235470:C:A 1,.,. -1 -1 -1 0.00140154 0 4 ZNF80 36_3_prime_utr 38,.,. 0.368421,.,. ZNF80/3_prime_utr/ENST00000482457 0.3070 0.0000 1.8780 9 dominant HG002 HG002 chr3:114235471:T:A 1,.,. -1 -1 -1 0.00140154 0 4 ZNF80 36_3_prime_utr 38,.,. 0.368421,.,. ZNF80/3_prime_utr/ENST00000482457 0.3070 0.0000 1.8780 9 dominant HG002 HG002 chr3:114288260:T:G 1,.,. -1 -1 -1 -1 -1 -1 TIGIT 50_intron 38,.,. 0.394737,.,. TIGIT/intron/ 0.0200 0.5480 0.9290 4 dominant HG002 HG002 chr3:114745484:AGTC:A 1,.,. -1 -1 -1 -1 -1 -1 ZBTB20 50_intron 47,.,. 0.425532,.,. ZBTB20/intron/;ZBTB20/non_coding/ 1.0000 0.1720 0.3000 0 Primrose syndrome 0.000 dominant HG002 HG002 chr3:115337380:A:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr3:115337381:T:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr3:115337382:T:TAA 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr3:115434236:A:AAAAC 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr3:115434241:A:C 1,.,. 2.64561e-05 0 4 -1 -1 -1 39,.,. 0.564103,.,. recessive HG002 HG002 chr3:115607659:CCTTG:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.980769,.,. recessive HG002 HG002 chr3:115607664:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. dominant HG002 HG002 chr3:115669982:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 GAP43 50_intron 37,.,. 0.27027,.,. GAP43/intron/ 0.9964 0.1136 0.3580 0 dominant HG002 HG002 chr3:115669986:T:A 1,.,. 2.66752e-05 0 3 -1 -1 -1 GAP43 50_intron 32,.,. 0.3125,.,. GAP43/intron/ 0.9964 0.1136 0.3580 0 dominant HG002 HG002 chr3:116023765:A:G 1,.,. 2.62798e-05 0 4 -1 -1 -1 LSAMP 50_intron 46,.,. 0.521739,.,. LSAMP/intron/;LSAMP/non_coding/ 1.0000 0.1789 0.3360 0 dominant HG002 HG002 chr3:116488944:CATATATAAATATATATATAAAAATACATATATTTATACATATATAAAT:C 1,.,. -1 -1 -1 -1 -1 -1 LSAMP 50_intron 41,.,. 0.487805,.,. LSAMP/intron/ 1.0000 0.1789 0.3360 0 dominant HG002 HG002 chr3:116505416:T:A 1,.,. -1 -1 -1 -1 -1 -1 LSAMP 50_intron 48,.,. 0.395833,.,. LSAMP/intron/ 1.0000 0.1789 0.3360 0 dominant HG002 HG002 chr3:116505420:T:A 1,.,. -1 -1 -1 -1 -1 -1 LSAMP 50_intron 48,.,. 0.395833,.,. LSAMP/intron/ 1.0000 0.1789 0.3360 0 dominant HG002 HG002 chr3:116518698:GTA:G 1,.,. -1 -1 -1 -1 -1 -1 LSAMP 50_intron 36,.,. 0.388889,.,. LSAMP/intron/ 1.0000 0.1789 0.3360 0 dominant HG002 HG002 chr3:116518701:C:A 1,.,. -1 -1 -1 -1 -1 -1 LSAMP 50_intron 36,.,. 0.388889,.,. LSAMP/intron/ 1.0000 0.1789 0.3360 0 recessive HG002 HG002 chr3:116801559:T:C 2,.,. -1 -1 -1 -1 -1 -1 LSAMP 50_intron 32,.,. 1,.,. LSAMP/intron/ 1.0000 0.1789 0.3360 0 dominant HG002 HG002 chr3:116876852:TTACAA:T 1,.,. -1 -1 -1 -1 -1 -1 LSAMP 50_intron 36,.,. 0.444444,.,. LSAMP/intron/ 1.0000 0.1789 0.3360 0 dominant HG002 HG002 chr3:116876858:G:C 1,.,. -1 -1 -1 -1 -1 -1 LSAMP 50_intron 36,.,. 0.444444,.,. LSAMP/intron/ 1.0000 0.1789 0.3360 0 dominant HG002 HG002 chr3:116900584:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 LSAMP 50_intron 44,.,. 0.363636,.,. LSAMP/intron/ 1.0000 0.1789 0.3360 0 dominant HG002 HG002 chr3:116900588:A:G 1,.,. 4.25143e-05 0 4 -1 -1 -1 LSAMP 50_intron 45,.,. 0.4,.,. LSAMP/intron/ 1.0000 0.1789 0.3360 0 dominant HG002 HG002 chr3:117056555:T:TGCAGTTTAGTGATGCTAG 1,.,. -1 -1 -1 -1 -1 -1 LSAMP 50_intron 47,.,. 0.595745,.,. LSAMP/intron/ 1.0000 0.1789 0.3360 0 dominant HG002 HG002 chr3:117056560:G:T 1,.,. 3.40654e-05 0 3 -1 -1 -1 LSAMP 50_intron 46,.,. 0.608696,.,. LSAMP/intron/ 1.0000 0.1789 0.3360 0 dominant HG002 HG002 chr3:117056562:A:T 1,.,. 1.31666e-05 0 2 -1 -1 -1 LSAMP 50_intron 46,.,. 0.608696,.,. LSAMP/intron/ 1.0000 0.1789 0.3360 0 dominant HG002 HG002 chr3:117155536:C:CTATATATATATATATATATATATA 1,.,. -1 -1 -1 -1 -1 -1 11,.,. 0.727273,.,. dominant HG002 HG002 chr3:117802792:C:T 1,.,. 6.57117e-06 0 1 -1 -1 -1 52,.,. 0.519231,.,. dominant HG002 HG002 chr3:118065350:G:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr3:118105352:GAGT:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr3:118105357:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr3:118131607:C:CACAG 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.7,.,. recessive HG002 HG002 chr3:118213849:A:G 2,.,. 0.00505051 0 3 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr3:118213854:T:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.980769,.,. recessive HG002 HG002 chr3:118213856:G:T 2,.,. 0.000203087 0 3 -1 -1 -1 54,.,. 0.981481,.,. dominant HG002 HG002 chr3:118554686:TAG:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr3:118554690:C:CTGGGACTTCAGAATTCCCATGACAAGGAATTCTGGGACAAGG 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr3:118562980:T:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.408163,.,. dominant HG002 HG002 chr3:118562981:G:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.408163,.,. dominant HG002 HG002 chr3:118565973:A:AAT 1,.,. 2.85543e-05 0 4 0.000700771 0 2 50,.,. 0.52,.,. dominant HG002 HG002 chr3:118999721:CACT:C 1,.,. 1.97158e-05 0 3 -1 -1 -1 IGSF11 50_intron 51,.,. 0.509804,.,. IGSF11/intron/;IGSF11/non_coding/ 0.0010 0.5544 0.8140 3 dominant HG002 HG002 chr3:119139911:A:G 1,.,. -1 -1 -1 -1 -1 -1 IGSF11 50_intron 47,.,. 0.382979,.,. IGSF11/intron/;IGSF11/non_coding/ 0.0010 0.5544 0.8140 3 dominant HG002 HG002 chr3:119140617:G:A 1,.,. -1 -1 -1 -1 -1 -1 IGSF11 50_intron 40,.,. 0.35,.,. IGSF11/intron/;IGSF11/non_coding/ 0.0010 0.5544 0.8140 3 dominant HG002 HG002 chr3:119140618:A:C 1,.,. -1 -1 -1 -1 -1 -1 IGSF11 50_intron 40,.,. 0.35,.,. IGSF11/intron/;IGSF11/non_coding/ 0.0010 0.5544 0.8140 3 dominant HG002 HG002 chr3:119140619:C:A 1,.,. -1 -1 -1 -1 -1 -1 IGSF11 50_intron 40,.,. 0.35,.,. IGSF11/intron/;IGSF11/non_coding/ 0.0010 0.5544 0.8140 3 dominant HG002 HG002 chr3:119140621:T:TATAA 1,.,. -1 -1 -1 -1 -1 -1 IGSF11 50_intron 39,.,. 0.333333,.,. IGSF11/intron/;IGSF11/non_coding/ 0.0010 0.5544 0.8140 3 dominant HG002 HG002 chr3:119140623:A:T 1,.,. -1 -1 -1 -1 -1 -1 IGSF11 50_intron 40,.,. 0.35,.,. IGSF11/intron/;IGSF11/non_coding/ 0.0010 0.5544 0.8140 3 dominant HG002 HG002 chr3:119173803:CCTGTT:C 1,.,. 1.97239e-05 0 3 -1 -1 -1 AC083800.1 50_intron 37,.,. 0.567568,.,. AC083800.1/intron/ dominant HG002 HG002 chr3:119253100:G:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.613636,.,. dominant HG002 HG002 chr3:119388306:T:TTACATA 1,.,. -1 -1 -1 -1 -1 -1 ARHGAP31 50_intron 35,.,. 0.514286,.,. ARHGAP31/intron/ 1.0000 0.2852 0.3800 0 Adams-Oliver syndrome 1 0.000 dominant HG002 HG002 chr3:119717838:G:A 1,.,. -1 -1 -1 -1 -1 -1 CFAP91 50_intron 40,.,. 0.45,.,. CFAP91/intron/;CFAP91/non_coding/ 0.0000 0.9140 1.1290 6 Spermatogenic failure 51 0.000 dominant HG002 HG002 chr3:120199742:TA:T 1,.,. 2.62774e-05 0 4 -1 -1 -1 GPR156 50_intron 48,.,. 0.395833,.,. GPR156/intron/ 0.0000 0.7245 0.9610 4 Hearing loss, autosomal recessive 121 dominant HG002 HG002 chr3:120338848:A:G 1,.,. 2.62774e-05 0 4 -1 -1 -1 LRRC58 50_intron 49,.,. 0.591837,.,. LRRC58/intron/ 0.0008 0.6785 1.0790 5 recessive HG002 HG002 chr3:120351815:A:G 2,.,. 2.6371e-05 0 4 -1 -1 -1 AC063952.1 53_non_coding 41,.,. 1,.,. AC063952.1/non_coding/ dominant HG002 HG002 chr3:120764042:T:C 1,.,. 1.97122e-05 0 3 -1 -1 -1 GTF2E1 50_intron 53,.,. 0.54717,.,. GTF2E1/intron/ 0.7725 0.3599 0.5830 1 dominant HG002 HG002 chr3:120860330:TTTGAAAGGA:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.431373,.,. dominant HG002 HG002 chr3:120860341:C:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.431373,.,. dominant HG002 HG002 chr3:121275864:C:T 1,.,. -1 -1 -1 -1 -1 -1 STXBP5L 50_intron 49,.,. 0.367347,.,. STXBP5L/intron/ 0.8662 0.3861 0.5040 1 dominant HG002 HG002 chr3:121435425:C:T 1,.,. -1 -1 -1 -1 -1 -1 POLQ 50_intron 37,.,. 0.621622,.,. POLQ/intron/ 0.0000 0.8976 1.0260 5 dominant HG002 HG002 chr3:122030621:T:TTCTC 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.263158,.,. dominant HG002 HG002 chr3:122452556:G:A 1,.,. -1 -1 -1 0.00105116 1 3 KPNA1 50_intron 40,.,. 0.375,.,. KPNA1/intron/;KPNA1/non_coding/ 1.0000 0.1363 0.2870 0 recessive HG002 HG002 chr3:122922877:C:CAACCACCTTT 2,.,. -1 -1 -1 -1 -1 -1 SEMA5B 50_intron 34,.,. 1,.,. SEMA5B/intron/ 0.0000 0.5223 0.6450 2 recessive HG002 HG002 chr3:122922879:T:A 2,.,. -1 -1 -1 -1 -1 -1 SEMA5B 50_intron 34,.,. 1,.,. SEMA5B/intron/ 0.0000 0.5223 0.6450 2 dominant HG002 HG002 chr3:123892714:CAAATTCA:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr3:123892726:A:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr3:124884216:A:T 1,.,. -1 -1 -1 -1 -1 -1 ITGB5 50_intron 42,.,. 0.285714,.,. ITGB5/intron/ 0.0986 0.4231 0.5680 1 dominant HG002 HG002 chr3:124884221:AAAG:A 1,.,. -1 -1 -1 -1 -1 -1 ITGB5 50_intron 41,.,. 0.292683,.,. ITGB5/intron/ 0.0986 0.4231 0.5680 1 dominant HG002 HG002 chr3:124884225:A:G 1,.,. -1 -1 -1 -1 -1 -1 ITGB5 50_intron 37,.,. 0.378378,.,. ITGB5/intron/ 0.0986 0.4231 0.5680 1 dominant HG002 HG002 chr3:125100897:C:T 1,.,. -1 -1 -1 0.000700771 0 2 SLC12A8 50_intron 50,.,. 0.46,.,. SLC12A8/intron/;SLC12A8/non_coding/ 0.0000 0.8897 1.1050 6 dominant HG002 HG002 chr3:125130606:G:A 1,.,. -1 -1 -1 -1 -1 -1 SLC12A8 50_intron 28,.,. 0.464286,.,. SLC12A8/intron/;SLC12A8/non_coding/ 0.0000 0.8897 1.1050 6 recessive HG002 HG002 chr3:125160854:G:T 2,.,. -1 -1 -1 -1 -1 -1 SLC12A8 50_intron 32,.,. 1,.,. SLC12A8/intron/ 0.0000 0.8897 1.1050 6 recessive HG002 HG002 chr3:125160856:ACAGC:A 2,.,. -1 -1 -1 -1 -1 -1 SLC12A8 50_intron 32,.,. 1,.,. SLC12A8/intron/ 0.0000 0.8897 1.1050 6 recessive HG002 HG002 chr3:125160861:C:G 2,.,. -1 -1 -1 -1 -1 -1 SLC12A8 50_intron 32,.,. 1,.,. SLC12A8/intron/ 0.0000 0.8897 1.1050 6 recessive HG002 HG002 chr3:125369911:GTTTGAAC:G 2,.,. -1 -1 -1 -1 -1 -1 ZNF148 50_intron 33,.,. 1,.,. ZNF148/intron/ 1.0000 0.1109 0.2080 0 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0.000 recessive HG002 HG002 chr3:125369919:C:G 2,.,. -1 -1 -1 -1 -1 -1 ZNF148 50_intron 33,.,. 1,.,. ZNF148/intron/ 1.0000 0.1109 0.2080 0 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0.000 dominant HG002 HG002 chr3:125721892:A:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.571429,.,. recessive HG002 HG002 chr3:125770207:G:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr3:126046382:A:C 1,.,. 3.06157e-05 0 4 -1 -1 -1 SLC41A3 50_intron 33,.,. 0.424242,.,. SLC41A3/intron/;SLC41A3/non_coding/ 0.0000 0.9407 1.2100 6 dominant HG002 HG002 chr3:126096390:C:A 1,.,. 9.30406e-06 0 1 -1 -1 -1 SLC41A3 50_intron 39,.,. 0.384615,.,. SLC41A3/intron/ 0.0000 0.9407 1.2100 6 dominant HG002 HG002 chr3:126235676:G:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr3:126305619:GGTCACA:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr3:126305626:C:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr3:126323493:T:TATATGTTATATATATATATAACATATATATGTTATATATATATATAACATATATATGTTATATATATATATAAC 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.391304,.,. dominant HG002 HG002 chr3:126507117:A:G 1,.,. 1.97125e-05 0 3 -1 -1 -1 UROC1 50_intron 28,.,. 0.535714,.,. UROC1/intron/ 0.0000 0.8824 1.0590 5 Urocanate hydratase deficiency 0.000 recessive HG002 HG002 chr3:126557979:AGGCCCCAGCT:A 2,.,. -1 -1 -1 -1 -1 -1 C3orf22 50_intron 36,.,. 1,.,. C3orf22/intron/ 0.0228 0.6210 1.1660 6 recessive HG002 HG002 chr3:126557995:C:A 2,.,. -1 -1 -1 -1 -1 -1 C3orf22 50_intron 36,.,. 1,.,. C3orf22/intron/ 0.0228 0.6210 1.1660 6 recessive HG002 HG002 chr3:126557998:T:G 2,.,. -1 -1 -1 -1 -1 -1 C3orf22 50_intron 36,.,. 1,.,. C3orf22/intron/ 0.0228 0.6210 1.1660 6 recessive HG002 HG002 chr3:126558000:CTGTCAGGTGCACT:C 2,.,. -1 -1 -1 -1 -1 -1 C3orf22 50_intron 36,.,. 1,.,. C3orf22/intron/ 0.0228 0.6210 1.1660 6 dominant HG002 HG002 chr3:127144422:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. recessive HG002 HG002 chr3:127155321:G:GAGTT 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr3:127155323:T:G 2,.,. 0.000441023 0 66 0.00350385 0 10 37,.,. 1,.,. dominant HG002 HG002 chr3:127249570:A:T 1,.,. 3.02197e-05 0 2 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr3:127249571:T:C 1,.,. 1.32317e-05 0 2 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr3:127249573:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr3:127249574:A:T 1,.,. 3.5327e-05 0 2 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr3:127514165:TATATATATACAC:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr3:127563977:A:ACCACCACCATCACTACCACTACCACCACCACCAAAACCACCAGCACCAGCACCACCACCATCC 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.5,.,. dominant HG002 HG002 chr3:128036543:C:CTG 1,.,. -1 -1 -1 -1 -1 -1 MGLL 50_intron 29,.,. 0.482759,.,. MGLL/intron/ 0.9808 0.2867 0.5000 1 dominant HG002 HG002 chr3:128036545:T:A 1,.,. -1 -1 -1 -1 -1 -1 MGLL 50_intron 32,.,. 0.4375,.,. MGLL/intron/ 0.9808 0.2867 0.5000 1 dominant HG002 HG002 chr3:128182879:GGGGC:G 1,.,. -1 -1 -1 0.00105116 0 3 EEFSEC 50_intron 35,.,. 0.685714,.,. EEFSEC/intron/;EEFSEC/non_coding/ 0.0000 1.0428 1.3450 7 Neurodevelopmental disorder with progressive spasticity and brain abnormalities dominant HG002 HG002 chr3:128182891:T:G 1,.,. -1 -1 -1 -1 -1 -1 EEFSEC 50_intron 38,.,. 0.684211,.,. EEFSEC/intron/;EEFSEC/non_coding/ 0.0000 1.0428 1.3450 7 Neurodevelopmental disorder with progressive spasticity and brain abnormalities recessive HG002 HG002 chr3:128235865:C:CAG 2,.,. -1 -1 -1 -1 -1 -1 EEFSEC 50_intron 29,.,. 1,.,. EEFSEC/intron/;EEFSEC/non_coding/ 0.0000 1.0428 1.3450 7 Neurodevelopmental disorder with progressive spasticity and brain abnormalities recessive HG002 HG002 chr3:128235866:G:C 2,.,. -1 -1 -1 -1 -1 -1 EEFSEC 50_intron 29,.,. 1,.,. EEFSEC/intron/;EEFSEC/non_coding/ 0.0000 1.0428 1.3450 7 Neurodevelopmental disorder with progressive spasticity and brain abnormalities recessive HG002 HG002 chr3:128415467:C:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr3:128528244:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr3:128528246:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr3:128528247:T:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. recessive HG002 HG002 chr3:128683509:G:T 2,.,. 0.000910555 1 130 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chr3:130210025:C:T 1,.,. -1 -1 -1 0.00140154 0 4 42,.,. 0.52381,.,. dominant HG002 HG002 chr3:130254976:T:C 1,.,. -1 -1 -1 -1 -1 -1 COL6A4P2 53_non_coding 31,.,. 0.516129,.,. COL6A4P2/non_coding/ dominant HG002 HG002 chr3:130264145:CCG:C 1,.,. 0.000180668 0 4 -1 -1 -1 COL6A4P2 53_non_coding 33,.,. 0.393939,.,. COL6A4P2/non_coding/ dominant HG002 HG002 chr3:130488889:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr3:130638699:A:C 1,.,. 1.48628e-05 0 1 -1 -1 -1 COL6A6 50_intron 20,.,. 0.4,.,. COL6A6/intron/ 0.0000 0.9068 1.0430 5 dominant HG002 HG002 chr3:130638701:T:G 1,.,. -1 -1 -1 -1 -1 -1 COL6A6 50_intron 20,.,. 0.4,.,. COL6A6/intron/ 0.0000 0.9068 1.0430 5 dominant HG002 HG002 chr3:130638703:G:T 1,.,. -1 -1 -1 -1 -1 -1 COL6A6 50_intron 20,.,. 0.4,.,. COL6A6/intron/ 0.0000 0.9068 1.0430 5 dominant HG002 HG002 chr3:130638705:TATTCCA:T 1,.,. -1 -1 -1 -1 -1 -1 COL6A6 50_intron 20,.,. 0.4,.,. COL6A6/intron/ 0.0000 0.9068 1.0430 5 dominant HG002 HG002 chr3:130677107:A:G 1,.,. 2.62729e-05 0 4 -1 -1 -1 COL6A6 36_3_prime_utr 40,.,. 0.4,.,. COL6A6/3_prime_utr/ENST00000358511 0.0000 0.9068 1.0430 5 dominant HG002 HG002 chr3:130780787:C:T 1,.,. 1.97278e-05 0 3 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr3:131263770:G:C 1,.,. 1.97208e-05 0 3 -1 -1 -1 NEK11 50_intron 46,.,. 0.5,.,. NEK11/intron/ 0.0000 0.9131 1.1670 6 dominant HG002 HG002 chr3:131334617:C:G 1,.,. 2.64701e-05 0 4 -1 -1 -1 NEK11;AC010210.1 50_intron 38,.,. 0.631579,.,. NEK11/intron/;AC010210.1/non_coding/ 0.0000 0.9131 1.1670 6 dominant HG002 HG002 chr3:131447868:C:G 1,.,. 1.97226e-05 0 3 -1 -1 -1 48,.,. 0.416667,.,. dominant HG002 HG002 chr3:131527051:GGCCGAGCTGGGGGACACCCGGGCCGGACTCAGCGTAGAGCACGC:G 1,.,. -1 -1 -1 0.00140154 0 4 BCL2L12P1 53_non_coding 42,.,. 0.52381,.,. BCL2L12P1/non_coding/ dominant HG002 HG002 chr3:131527098:A:T 1,.,. -1 -1 -1 0.00140154 0 4 BCL2L12P1 53_non_coding 42,.,. 0.52381,.,. BCL2L12P1/non_coding/ recessive HG002 HG002 chr3:131660348:CCCAT:C 2,.,. -1 -1 -1 -1 -1 -1 CPNE4 50_intron 47,.,. 1,.,. CPNE4/intron/;CPNE4/non_coding/ 0.8826 0.3600 0.5400 1 recessive HG002 HG002 chr3:131660353:T:A 2,.,. -1 -1 -1 -1 -1 -1 CPNE4 50_intron 48,.,. 1,.,. CPNE4/intron/;CPNE4/non_coding/ 0.8826 0.3600 0.5400 1 recessive HG002 HG002 chr3:131689563:GCCATCTTATGCTTA:G 2,.,. -1 -1 -1 -1 -1 -1 CPNE4 50_intron 36,.,. 1,.,. CPNE4/intron/;CPNE4/non_coding/ 0.8826 0.3600 0.5400 1 recessive HG002 HG002 chr3:131689578:T:A 2,.,. -1 -1 -1 -1 -1 -1 CPNE4 50_intron 36,.,. 1,.,. CPNE4/intron/;CPNE4/non_coding/ 0.8826 0.3600 0.5400 1 dominant HG002 HG002 chr3:131761878:C:T 1,.,. 6.57817e-06 0 1 -1 -1 -1 CPNE4 50_intron 34,.,. 0.441176,.,. CPNE4/intron/ 0.8826 0.3600 0.5400 1 dominant HG002 HG002 chr3:131872953:T:C 1,.,. -1 -1 -1 -1 -1 -1 CPNE4 50_intron 46,.,. 0.434783,.,. CPNE4/intron/ 0.8826 0.3600 0.5400 1 dominant HG002 HG002 chr3:131872954:T:TATTAA 1,.,. -1 -1 -1 -1 -1 -1 CPNE4 50_intron 46,.,. 0.434783,.,. CPNE4/intron/ 0.8826 0.3600 0.5400 1 recessive HG002 HG002 chr3:132038395:T:TCTG 2,.,. -1 -1 -1 -1 -1 -1 CPNE4 50_intron 22,.,. 1,.,. CPNE4/intron/;CPNE4/non_coding/ 0.8826 0.3600 0.5400 1 recessive HG002 HG002 chr3:132038396:G:C 2,.,. 6.60101e-06 0 1 -1 -1 -1 CPNE4 50_intron 22,.,. 1,.,. CPNE4/intron/;CPNE4/non_coding/ 0.8826 0.3600 0.5400 1 dominant HG002 HG002 chr3:132044956:G:A 1,.,. 0.000134904 0 3 -1 -1 -1 CPNE4 50_intron 14,.,. 0.428571,.,. CPNE4/intron/ 0.8826 0.3600 0.5400 1 dominant HG002 HG002 chr3:132781058:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr3:132844253:T:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr3:132844254:G:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr3:132844255:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr3:132844257:TTACCA:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. dominant HG002 HG002 chr3:132946002:T:A 1,.,. 5.15747e-05 0 3 -1 -1 -1 59,.,. 0.440678,.,. dominant HG002 HG002 chr3:133222051:G:A 1,.,. -1 -1 -1 -1 -1 -1 TMEM108 50_intron 37,.,. 0.486486,.,. TMEM108/intron/ 0.7590 0.3616 0.5860 2 dominant HG002 HG002 chr3:133936783:A:C 1,.,. -1 -1 -1 -1 -1 -1 SLCO2A1 50_intron 42,.,. 0.52381,.,. SLCO2A1/intron/ 0.0000 0.8358 1.0360 5 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2;Hypertrophic osteoarthropathy, primary, autosomal dominant 0.000 dominant HG002 HG002 chr3:134627479:C:T 1,.,. -1 -1 -1 -1 -1 -1 EPHB1;KY 50_intron 35,.,. 0.457143,.,. EPHB1/non_coding/;KY/intron/;KY/non_coding/ 0.9998;;0.0000 0.3254;;0.5806 0.4410;;0.7670 1;;3 Myofibrillar myopathy 7 0.000 dominant HG002 HG002 chr3:134958411:GGAGTGT:G 1,.,. -1 -1 -1 -1 -1 -1 EPHB1 50_intron 24,.,. 0.625,.,. EPHB1/intron/;EPHB1/non_coding/ 0.9998 0.3254 0.4410 1 dominant HG002 HG002 chr3:134958419:T:G 1,.,. -1 -1 -1 -1 -1 -1 EPHB1 50_intron 24,.,. 0.625,.,. EPHB1/intron/;EPHB1/non_coding/ 0.9998 0.3254 0.4410 1 recessive HG002 HG002 chr3:135228774:G:A 2,.,. 1.33214e-05 0 2 -1 -1 -1 EPHB1 50_intron 40,.,. 1,.,. EPHB1/intron/ 0.9998 0.3254 0.4410 1 recessive HG002 HG002 chr3:135687576:ACCCTTG:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr3:135798194:G:A 1,.,. 2.63054e-05 0 4 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr3:135823277:C:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr3:136235655:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr3:136284316:T:TGATGTTTC 1,.,. -1 -1 -1 -1 -1 -1 PCCB 50_intron 35,.,. 0.542857,.,. PCCB/intron/;PCCB/non_coding/ 0.0001 0.5900 0.8430 3 0.000 dominant HG002 HG002 chr3:136284317:T:A 1,.,. -1 -1 -1 -1 -1 -1 PCCB 50_intron 37,.,. 0.540541,.,. PCCB/intron/;PCCB/non_coding/ 0.0001 0.5900 0.8430 3 0.000 dominant HG002 HG002 chr3:136307357:G:A 1,.,. 1.52597e-05 0 1 -1 -1 -1 PCCB 50_intron 39,.,. 0.487179,.,. PCCB/intron/;PCCB/non_coding/ 0.0001 0.5900 0.8430 3 0.000 dominant HG002 HG002 chr3:136982695:T:A 1,.,. -1 -1 -1 -1 -1 -1 IL20RB 50_intron 34,.,. 0.441176,.,. IL20RB/non_coding/;IL20RB/intron/ 0.0000 0.6863 0.9970 5 dominant HG002 HG002 chr3:137093842:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. recessive HG002 HG002 chr3:137433174:A:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr3:138175902:TGTGTG:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.519231,.,. dominant HG002 HG002 chr3:138318764:C:G 1,.,. -1 -1 -1 -1 -1 -1 NME9 50_intron 33,.,. 0.424242,.,. NME9/intron/;NME9/non_coding/ 0.0000 0.9906 1.3930 7 recessive HG002 HG002 chr3:139112841:CCTTCTGGACACA:C 2,.,. -1 -1 -1 -1 -1 -1 MRPS22 50_intron 25,.,. 1,.,. MRPS22/intron/ 0.0000 0.6763 0.9270 4 Hypotonia with lactic acidemia and hyperammonemia;Ovarian dysgenesis 7 0.000 recessive HG002 HG002 chr3:139112855:C:A 2,.,. -1 -1 -1 -1 -1 -1 MRPS22 50_intron 25,.,. 1,.,. MRPS22/intron/ 0.0000 0.6763 0.9270 4 Hypotonia with lactic acidemia and hyperammonemia;Ovarian dysgenesis 7 0.000 dominant HG002 HG002 chr3:140405919:T:C 1,.,. -1 -1 -1 -1 -1 -1 CLSTN2 50_intron 27,.,. 0.444444,.,. CLSTN2/intron/;CLSTN2/non_coding/ 0.0018 0.4519 0.5780 1 recessive HG002 HG002 chr3:140419847:ATATATATATG:A 2,.,. -1 -1 -1 -1 -1 -1 CLSTN2 50_intron 35,.,. 1,.,. CLSTN2/intron/;CLSTN2/non_coding/ 0.0018 0.4519 0.5780 1 dominant HG002 HG002 chr3:140650224:C:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. recessive HG002 HG002 chr3:140679054:A:ACCC 2,.,. 0.00468814 3 707 0.00770848 1 22 TRIM42 50_intron 33,.,. 1,.,. TRIM42/intron/ 0.0000 0.8699 1.0800 5 dominant HG002 HG002 chr3:141334441:CTTCT:C 1,.,. -1 -1 -1 -1 -1 -1 PXYLP1;ZBTB38 50_intron 38,.,. 0.447368,.,. PXYLP1/intron/;ZBTB38/intron/ 0.1631;;1.0000 0.4260;;0.2747 0.6390;;0.3890 2;;0 dominant HG002 HG002 chr3:141334448:C:T 1,.,. -1 -1 -1 0.00140154 0 4 PXYLP1;ZBTB38 50_intron 38,.,. 0.447368,.,. PXYLP1/intron/;ZBTB38/intron/ 0.1631;;1.0000 0.4260;;0.2747 0.6390;;0.3890 2;;0 recessive HG002 HG002 chr3:141943633:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr3:141943634:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chr3:142102222:G:C 1,.,. -1 -1 -1 -1 -1 -1 TFDP2 50_intron 40,.,. 0.65,.,. TFDP2/intron/;TFDP2/non_coding/ 0.9987 0.2784 0.4430 1 dominant HG002 HG002 chr3:143094714:C:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr3:143094715:T:C 1,.,. 1.4912e-05 0 1 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr3:143094716:C:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.4,.,. recessive HG002 HG002 chr3:143175076:CTTA:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr3:143175081:G:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr3:143840344:A:G 2,.,. -1 -1 -1 -1 -1 -1 SLC9A9 50_intron 44,.,. 1,.,. SLC9A9/intron/ 0.0000 0.8092 1.0110 5 Autism, susceptibility to, 16 dominant HG002 HG002 chr3:144479199:TAAAGTA:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr3:144545375:G:T 1,.,. 1.97449e-05 0 3 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr3:144855011:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr3:145131434:TTTTA:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr3:145131439:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr3:145179899:C:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr3:145179902:G:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr3:145179905:T:TTTTCTAATATTTCTGTATTCACTAGGA 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr3:145263632:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. recessive HG002 HG002 chr3:145376819:G:A 2,.,. -1 -1 -1 0.0024527 0 7 41,.,. 1,.,. recessive HG002 HG002 chr3:145376820:T:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr3:145376821:T:A 2,.,. -1 -1 -1 0.0024527 0 7 41,.,. 1,.,. recessive HG002 HG002 chr3:145426623:T:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr3:145426981:T:TTTTG 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr3:145500936:A:G 1,.,. 6.57895e-06 0 1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr3:145596297:AGAT:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr3:145596301:T:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr3:145777799:T:C 1,.,. 6.56953e-06 0 1 -1 -1 -1 49,.,. 0.489796,.,. dominant HG002 HG002 chr3:146070092:T:G 1,.,. 6.58094e-06 0 1 -1 -1 -1 PLOD2 36_3_prime_utr 45,.,. 0.511111,.,. PLOD2/3_prime_utr/ENST00000461497;PLOD2/3_prime_utr/ENST00000282903;PLOD2/3_prime_utr/ENST00000360060 0.0000 0.8397 1.2090 6 Bruck syndrome 2 0.000 dominant HG002 HG002 chr3:146608679:A:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.509804,.,. recessive HG002 HG002 chr3:146669937:CTTTTGCTAGCATCATTAAGGTTTTTTAGGTATAGAATTATATCATTAGCAAAGATAAATAATTTCACCTATTATTTTTCTACTTGGATGCACTTTATTTCTTTCTTTAGCCTGATTGCTCTAGAATAGTTAAGTCATCTTGTCAAATTGAGCACTTTATCATTATGTAATGTCTTTCTTTGTTCTTTTTTATTGTTGTTGGTTTACAGTTTGTTTTATCTGATATAAAATACTGATCTCTGCTCTTTTTTGCCTTCCATTTGTGTGGTAGATCTTTCTCAAATGTATTCTTTTGAGCCTGTGGATGTCATTATGTGTGAGATGGGTCTCTTGAAGACAGTAGATAGATGGATCTTGTTTACTCATTCAAACTTGCCACTCAGTTCTTTTGAAATGGACCCTTTGGACCATTTGGATTCACGGTTAATGTTGATATGTGAGATCTTTATTCTATCATGAAATTGTTAGCTGACTGCTTTGTAGTTTCTATTGTGTGGTTGTTTTATACTTTTGGTGAGCTATGTATTTAAGTGGGTTTTATAATAGCAGGTATCATTCTTTTGTTTCCATGTTGGATTTCCTTAAGGATCTCTGGTAAGGCTAGTCTAATGATAATGAATTCTCTTAGCACTTGCTTTTCTTGAGAAAAACTTTATATCTTCTTGGCTTACGCAACTTGATT:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146670637:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146670649:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146670650:C:A 2,.,. 2.86484e-05 1 2 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146670654:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146670656:T:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr3:146670657:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146670662:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146670663:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146670677:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146671789:G:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146671801:A:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146671807:A:AAGG 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr3:146671809:A:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr3:146671820:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146671823:G:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146671832:A:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146671840:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146671841:G:GA 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146671843:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146671845:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146671846:T:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr3:146671859:C:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146671860:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146671865:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:146672340:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr3:146672361:GAACACCTACTGCACCTACTGCTGAGCTGCTTTCCACAATTCTATCTGTGTAGGCCCCTATCCCACTCTAGAGCGGGAACTCCAGTCTCTGCCCTGACACAAAAATGCCTGTGTGGCCATGCTGCTGTGTCACCAAAGATTGACTGACTTTGTACCTGCATGGATTAAAAATGGTATCCCACTCTTGGTCCCAAGTCTGTGAAAATGCCTGCAGTTTTTGCCAGTGTCTTTCCCTTTCTACGTCTCAAAGCCTCCCC:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr3:146857731:G:C 1,.,. 6.57505e-06 0 1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr3:147264614:A:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.589744,.,. dominant HG002 HG002 chr3:147507419:C:CCTTT 1,.,. 9.01892e-06 0 1 -1 -1 -1 ZIC1 53_non_coding 37,.,. 0.378378,.,. ZIC1/non_coding/ 0.9999 0.1338 0.3060 0 Craniosynostosis 6;Structural brain anomalies with impaired intellectual development and craniosynostosis 0.000 dominant HG002 HG002 chr3:147783106:TTTTTTGTTTTGTTTTTG:T 1,.,. 8.42176e-05 0 1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr3:147783134:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr3:147943686:A:T 1,.,. 1.97099e-05 0 3 0.000700771 0 2 42,.,. 0.619048,.,. dominant HG002 HG002 chr3:148100516:C:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.574468,.,. dominant HG002 HG002 chr3:148100517:A:ACCAATATAT 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.574468,.,. dominant HG002 HG002 chr3:148113747:G:A 1,.,. 2.63075e-05 0 4 0.000700771 0 2 46,.,. 0.456522,.,. dominant HG002 HG002 chr3:148332913:A:C 1,.,. 1.97094e-05 0 3 0.000700771 0 2 37,.,. 0.567568,.,. dominant HG002 HG002 chr3:148557425:C:G 1,.,. 2.63092e-05 0 4 0.000700771 0 2 46,.,. 0.347826,.,. dominant HG002 HG002 chr3:148754374:C:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.4375,.,. dominant HG002 HG002 chr3:148787147:C:G 1,.,. 6.57324e-06 0 1 -1 -1 -1 43,.,. 0.55814,.,. recessive HG002 HG002 chr3:148826053:AATGAAT:A 2,.,. -1 -1 -1 -1 -1 -1 CPB1 50_intron 34,.,. 1,.,. CPB1/intron/ 0.0000 0.9153 1.1670 6 recessive HG002 HG002 chr3:148826060:G:T 2,.,. -1 -1 -1 -1 -1 -1 CPB1 50_intron 34,.,. 1,.,. CPB1/intron/ 0.0000 0.9153 1.1670 6 dominant HG002 HG002 chr3:148873690:C:T 1,.,. -1 -1 -1 -1 -1 -1 CPA3 50_intron 40,.,. 0.525,.,. CPA3/intron/ 0.0000 0.8466 1.1820 6 dominant HG002 HG002 chr3:148888873:G:A 1,.,. 1.31439e-05 0 2 -1 -1 -1 CPA3 50_intron 52,.,. 0.538462,.,. CPA3/intron/;CPA3/non_coding/ 0.0000 0.8466 1.1820 6 recessive HG002 HG002 chr3:148900009:TTTGAAG:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. recessive HG002 HG002 chr3:148900017:A:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. recessive HG002 HG002 chr3:148907487:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr3:149294677:G:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. recessive HG002 HG002 chr3:149380273:G:GGC 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr3:149380275:G:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr3:149501036:A:AAAAG 1,.,. -1 -1 -1 -1 -1 -1 TM4SF4 50_intron 33,.,. 0.363636,.,. TM4SF4/intron/ 0.0000 1.0836 1.5450 8 dominant HG002 HG002 chr3:149622498:G:GAAGAAAGAAAGA 1,.,. -1 -1 -1 -1 -1 -1 WWTR1 50_intron 16,.,. 0.6875,.,. WWTR1/intron/ 0.9245 0.3342 0.5410 1 dominant HG002 HG002 chr3:150152077:TATAAC:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.652174,.,. dominant HG002 HG002 chr3:150241087:C:A 1,.,. 2.62912e-05 0 4 -1 -1 -1 35,.,. 0.428571,.,. recessive HG002 HG002 chr3:150245155:CAACA:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr3:150576041:C:G 1,.,. -1 -1 -1 -1 -1 -1 SERP1;EIF2A 50_intron 46,.,. 0.478261,.,. SERP1/intron/;SERP1/non_coding/;EIF2A/intron/ 0.0292;;0.0000 0.7140;;0.8784 1.4770;;1.1070 8;;6 dominant HG002 HG002 chr3:150593782:C:CTTCT 1,.,. -1 -1 -1 -1 -1 -1 SERP1 50_intron 49,.,. 0.55102,.,. SERP1/intron/;SERP1/non_coding/ 0.0292 0.7140 1.4770 8 dominant HG002 HG002 chr3:150593783:C:T 1,.,. -1 -1 -1 -1 -1 -1 SERP1 50_intron 49,.,. 0.55102,.,. SERP1/intron/;SERP1/non_coding/ 0.0292 0.7140 1.4770 8 dominant HG002 HG002 chr3:150727686:C:CCG 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.48,.,. dominant HG002 HG002 chr3:150727691:C:G 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.52,.,. dominant HG002 HG002 chr3:151011513:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.543478,.,. dominant HG002 HG002 chr3:151045354:A:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr3:151309139:A:ACACG 1,.,. -1 -1 -1 -1 -1 -1 MED12L 50_intron 39,.,. 0.435897,.,. MED12L/intron/;MED12L/non_coding/ 1.0000 0.1745 0.2260 0 Nizon-Isidor syndrome 0.000 dominant HG002 HG002 chr3:151346369:T:C 1,.,. 1.3143e-05 0 2 -1 -1 -1 MED12L 50_intron 45,.,. 0.488889,.,. MED12L/intron/;MED12L/non_coding/ 1.0000 0.1745 0.2260 0 Nizon-Isidor syndrome 0.000 recessive HG002 HG002 chr3:151423016:A:T 2,.,. 0.000903891 0 128 0.00175193 1 5 MED12L 50_intron 51,.,. 1,.,. MED12L/intron/;MED12L/non_coding/ 1.0000 0.1745 0.2260 0 Nizon-Isidor syndrome 0.000 dominant HG002 HG002 chr3:151486798:C:T 1,.,. 6.57315e-06 0 1 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr3:151553977:A:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.59375,.,. recessive HG002 HG002 chr3:151715726:TTAG:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. dominant HG002 HG002 chr3:152148202:TTCA:T 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.54386,.,. dominant HG002 HG002 chr3:152148206:T:C 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.553571,.,. dominant HG002 HG002 chr3:152157513:G:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.538462,.,. dominant HG002 HG002 chr3:152407047:C:CTGTGTGTGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 MBNL1 50_intron 43,.,. 0.418605,.,. MBNL1/intron/ 1.0000 0.1687 0.3170 0 dominant HG002 HG002 chr3:153197446:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.358974,.,. dominant HG002 HG002 chr3:153711347:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.325,.,. dominant HG002 HG002 chr3:154017771:T:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr3:154017772:G:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr3:154017776:T:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr3:154659707:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. recessive HG002 HG002 chr3:155958726:C:CATAA 2,.,. 6.58423e-06 0 1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr3:155958727:T:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr3:157792894:ATGTTTT:A 2,.,. 0.000745655 1 29 0.0049054 0 14 37,.,. 1,.,. recessive HG002 HG002 chr3:157792912:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr3:157904971:CTTCAACCT:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr3:157904981:T:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr3:157904982:C:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr3:157924766:T:C 1,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.516667,.,. dominant HG002 HG002 chr3:158229357:C:A 1,.,. -1 -1 -1 -1 -1 -1 RSRC1 50_intron 52,.,. 0.442308,.,. RSRC1/intron/;RSRC1/non_coding/ 0.0000 0.8772 1.2630 7 Intellectual developmental disorder, autosomal recessive 70 0.000 dominant HG002 HG002 chr3:158229359:T:C 1,.,. 7.09733e-06 0 1 -1 -1 -1 RSRC1 50_intron 52,.,. 0.442308,.,. RSRC1/intron/;RSRC1/non_coding/ 0.0000 0.8772 1.2630 7 Intellectual developmental disorder, autosomal recessive 70 0.000 dominant HG002 HG002 chr3:158327491:C:T 1,.,. 2.62885e-05 0 4 -1 -1 -1 RSRC1 50_intron 44,.,. 0.545455,.,. RSRC1/intron/;RSRC1/non_coding/ 0.0000 0.8772 1.2630 7 Intellectual developmental disorder, autosomal recessive 70 0.000 dominant HG002 HG002 chr3:158406242:C:T 1,.,. -1 -1 -1 -1 -1 -1 RSRC1 50_intron 48,.,. 0.479167,.,. RSRC1/intron/;RSRC1/non_coding/ 0.0000 0.8772 1.2630 7 Intellectual developmental disorder, autosomal recessive 70 0.000 dominant HG002 HG002 chr3:158890931:A:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr3:159455749:AATGCAGGCAGGGTT:A 1,.,. -1 -1 -1 -1 -1 -1 IQCJ-SCHIP1 50_intron 39,.,. 0.487179,.,. IQCJ-SCHIP1/non_coding/;IQCJ-SCHIP1/intron/ 0.1296 0.4304 0.6380 2 recessive HG002 HG002 chr3:159494657:C:T 2,.,. -1 -1 -1 -1 -1 -1 IQCJ-SCHIP1 50_intron 45,.,. 1,.,. IQCJ-SCHIP1/non_coding/;IQCJ-SCHIP1/intron/ 0.1296 0.4304 0.6380 2 recessive HG002 HG002 chr3:159539901:T:A 2,.,. 4.79352e-05 1 4 -1 -1 -1 IQCJ-SCHIP1 50_intron 23,.,. 1,.,. IQCJ-SCHIP1/non_coding/;IQCJ-SCHIP1/intron/ 0.1296 0.4304 0.6380 2 dominant HG002 HG002 chr3:159818259:T:A 1,.,. -1 -1 -1 -1 -1 -1 IQCJ-SCHIP1 50_intron 38,.,. 0.342105,.,. IQCJ-SCHIP1/intron/ 0.1296 0.4304 0.6380 2 recessive HG002 HG002 chr3:160062181:A:AGTG 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr3:160062184:TTG:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr3:160456027:G:C 1,.,. -1 -1 -1 -1 -1 -1 TRIM59 50_intron 37,.,. 0.378378,.,. TRIM59/intron/ 0.1166 0.4385 0.6750 2 dominant HG002 HG002 chr3:160456040:T:A 1,.,. -1 -1 -1 -1 -1 -1 TRIM59 50_intron 36,.,. 0.388889,.,. TRIM59/intron/ 0.1166 0.4385 0.6750 2 dominant HG002 HG002 chr3:161671449:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.590909,.,. dominant HG002 HG002 chr3:161744821:G:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.352941,.,. dominant HG002 HG002 chr3:161744822:T:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.333333,.,. dominant HG002 HG002 chr3:161744823:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.333333,.,. dominant HG002 HG002 chr3:161755476:T:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.354167,.,. dominant HG002 HG002 chr3:162263578:A:G 1,.,. 6.57376e-06 0 1 -1 -1 -1 44,.,. 0.590909,.,. dominant HG002 HG002 chr3:162309626:C:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr3:162407297:T:C 1,.,. -1 -1 -1 0.000700771 0 2 39,.,. 0.589744,.,. dominant HG002 HG002 chr3:162407298:G:C 1,.,. -1 -1 -1 0.000700771 0 2 39,.,. 0.589744,.,. dominant HG002 HG002 chr3:162422766:TCTTTG:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. recessive HG002 HG002 chr3:162433410:A:AAAAATTAAC 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr3:162433413:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr3:162434770:A:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr3:162434771:T:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr3:162434775:A:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr3:162703245:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr3:162749587:T:TTGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.394737,.,. recessive HG002 HG002 chr3:162763890:G:T 2,.,. 0.00124396 0 189 0.000700771 0 2 37,.,. 1,.,. dominant HG002 HG002 chr3:162782871:T:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr3:163005766:A:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr3:163030996:TAG:T 1,.,. 6.66409e-06 0 1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr3:163030999:C:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr3:163065830:A:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr3:163333277:A:ATGTG 1,.,. 1.38504e-05 0 1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr3:163728938:A:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr3:163728939:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr3:163728940:TCAGAAGA:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr3:163728951:G:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr3:163728952:A:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr3:163728953:AACCAAGCC:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr3:164150303:T:TGATC 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.416667,.,. dominant HG002 HG002 chr3:164150305:T:A 1,.,. 1.12291e-05 0 1 -1 -1 -1 48,.,. 0.416667,.,. dominant HG002 HG002 chr3:164150306:C:A 1,.,. 1.31645e-05 0 2 -1 -1 -1 48,.,. 0.416667,.,. dominant HG002 HG002 chr3:164193385:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr3:164304797:G:A 1,.,. 1.97392e-05 0 3 -1 -1 -1 34,.,. 0.5,.,. recessive HG002 HG002 chr3:165092892:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr3:165092893:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr3:165093104:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr3:165093109:T:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr3:165093111:A:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr3:166152119:G:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr3:166223179:C:CACACACAG 1,.,. 4.69616e-05 0 3 -1 -1 -1 42,.,. 0.357143,.,. dominant HG002 HG002 chr3:166321138:ACCAAAC:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.205882,.,. dominant HG002 HG002 chr3:166458329:C:A 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.327273,.,. recessive HG002 HG002 chr3:166543487:T:TTGTCTC 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr3:166543490:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr3:168353287:G:A 2,.,. -1 -1 -1 0.00315347 0 9 EGFEM1P 53_non_coding 45,.,. 1,.,. EGFEM1P/non_coding/ recessive HG002 HG002 chr3:168438797:TCCAAAA:T 2,.,. -1 -1 -1 0.00911002 3 26 EGFEM1P 53_non_coding 24,.,. 1,.,. EGFEM1P/non_coding/ recessive HG002 HG002 chr3:168581103:C:T 2,.,. 0.00351761 1 535 0.00420463 1 12 EGFEM1P 53_non_coding 38,.,. 1,.,. EGFEM1P/non_coding/ dominant HG002 HG002 chr3:168899734:C:T 1,.,. 1.98444e-05 0 3 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr3:169073982:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.641026,.,. dominant HG002 HG002 chr3:169073991:G:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.641026,.,. dominant HG002 HG002 chr3:169333918:T:C 1,.,. 1.43976e-05 0 2 -1 -1 -1 MECOM 50_intron 56,.,. 0.482143,.,. MECOM/intron/;MECOM/non_coding/ 1.0000 0.0947 0.1610 0 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0.000 dominant HG002 HG002 chr3:169484583:C:G 1,.,. 1.31536e-05 0 2 -1 -1 -1 MECOM 50_intron 48,.,. 0.520833,.,. MECOM/intron/;MECOM/non_coding/ 1.0000 0.0947 0.1610 0 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0.000 dominant HG002 HG002 chr3:169681997:C:A 1,.,. -1 -1 -1 0.000700771 0 2 35,.,. 0.514286,.,. dominant HG002 HG002 chr3:169921720:A:G 1,.,. 6.56996e-06 0 1 -1 -1 -1 SAMD7 50_intron 45,.,. 0.533333,.,. SAMD7/intron/ 0.0000 0.8141 1.1830 6 Macular dystrophy with or without cone dysfunction dominant HG002 HG002 chr3:170000879:C:T 1,.,. 1.31446e-05 0 2 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr3:170063315:C:G 1,.,. 6.59744e-06 0 1 -1 -1 -1 GPR160 50_intron 38,.,. 0.421053,.,. GPR160/intron/;GPR160/non_coding/ 0.4403 0.0000 1.6480 8 dominant HG002 HG002 chr3:170221386:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr3:170266548:T:A 1,.,. -1 -1 -1 0.000700771 0 2 PRKCI 50_intron 18,.,. 0.388889,.,. PRKCI/intron/ 0.0090 0.4710 0.6620 2 dominant HG002 HG002 chr3:170388838:A:G 1,.,. -1 -1 -1 -1 -1 -1 SKIL 50_intron 30,.,. 0.633333,.,. SKIL/intron/ 0.9609 0.3007 0.5250 1 recessive HG002 HG002 chr3:170401048:GTGAACTC:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:170401057:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:170401059:A:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr3:170401060:A:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr3:170738705:GTCC:G 1,.,. -1 -1 -1 -1 -1 -1 AC026316.4 50_intron 45,.,. 0.466667,.,. AC026316.4/intron/ dominant HG002 HG002 chr3:170738709:A:C 1,.,. -1 -1 -1 -1 -1 -1 AC026316.4 50_intron 45,.,. 0.466667,.,. AC026316.4/intron/ dominant HG002 HG002 chr3:171428739:T:TCCTCA 1,.,. -1 -1 -1 -1 -1 -1 TNIK 50_intron 37,.,. 0.486486,.,. TNIK/intron/ 1.0000 0.2624 0.3380 0 Intellectual disability, autosomal recessive 54 0.000 dominant HG002 HG002 chr3:171428740:T:A 1,.,. -1 -1 -1 -1 -1 -1 TNIK 50_intron 37,.,. 0.486486,.,. TNIK/intron/ 1.0000 0.2624 0.3380 0 Intellectual disability, autosomal recessive 54 0.000 dominant HG002 HG002 chr3:171943836:AGGCGTG:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.666667,.,. dominant HG002 HG002 chr3:171943843:A:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.659574,.,. recessive HG002 HG002 chr3:171951328:GTGGCAC:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr3:171951336:A:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr3:171968130:G:GCACACACACACGCA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr3:172099922:A:T 1,.,. -1 -1 -1 -1 -1 -1 FNDC3B 50_intron 46,.,. 0.478261,.,. FNDC3B/intron/;FNDC3B/non_coding/ 1.0000 0.0992 0.1640 0 dominant HG002 HG002 chr3:172099923:G:A 1,.,. -1 -1 -1 -1 -1 -1 FNDC3B 50_intron 46,.,. 0.478261,.,. FNDC3B/intron/;FNDC3B/non_coding/ 1.0000 0.0992 0.1640 0 dominant HG002 HG002 chr3:172099924:A:C 1,.,. -1 -1 -1 -1 -1 -1 FNDC3B 50_intron 46,.,. 0.478261,.,. FNDC3B/intron/;FNDC3B/non_coding/ 1.0000 0.0992 0.1640 0 dominant HG002 HG002 chr3:172099925:C:T 1,.,. -1 -1 -1 -1 -1 -1 FNDC3B 50_intron 46,.,. 0.478261,.,. FNDC3B/intron/;FNDC3B/non_coding/ 1.0000 0.0992 0.1640 0 recessive HG002 HG002 chr3:172208729:G:GGCAGGCTGT 2,.,. -1 -1 -1 -1 -1 -1 FNDC3B 50_intron 38,.,. 1,.,. FNDC3B/intron/;FNDC3B/non_coding/ 1.0000 0.0992 0.1640 0 recessive HG002 HG002 chr3:172208731:A:C 2,.,. -1 -1 -1 -1 -1 -1 FNDC3B 50_intron 38,.,. 1,.,. FNDC3B/intron/;FNDC3B/non_coding/ 1.0000 0.0992 0.1640 0 dominant HG002 HG002 chr3:173028015:C:CTCCCTTCCTTCT 1,.,. -1 -1 -1 -1 -1 -1 SPATA16 50_intron 39,.,. 0.307692,.,. SPATA16/intron/ 0.0000 0.5721 0.7590 3 Globozoospermia 0.000 dominant HG002 HG002 chr3:173253886:A:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr3:173348368:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.217391,.,. recessive HG002 HG002 chr3:174387761:A:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr3:174672919:A:T 2,.,. -1 -1 -1 -1 -1 -1 NAALADL2 50_intron 40,.,. 1,.,. NAALADL2/non_coding/;NAALADL2/intron/ 0.0000 0.9064 1.1370 6 recessive HG002 HG002 chr3:174672920:GTGGCTTGTAC:G 2,.,. -1 -1 -1 -1 -1 -1 NAALADL2 50_intron 40,.,. 1,.,. NAALADL2/non_coding/;NAALADL2/intron/ 0.0000 0.9064 1.1370 6 dominant HG002 HG002 chr3:175592296:CTTTTTCTTTTCTT:C 1,.,. -1 -1 -1 -1 -1 -1 NAALADL2 50_intron 36,.,. 0.444444,.,. NAALADL2/intron/;NAALADL2/non_coding/ 0.0000 0.9064 1.1370 6 dominant HG002 HG002 chr3:175698191:GTGTATATA:G 1,.,. -1 -1 -1 -1 -1 -1 NAALADL2 50_intron 49,.,. 0.265306,.,. NAALADL2/intron/ 0.0000 0.9064 1.1370 6 dominant HG002 HG002 chr3:175764553:T:G 1,.,. -1 -1 -1 -1 -1 -1 NAALADL2 50_intron 40,.,. 0.425,.,. NAALADL2/intron/ 0.0000 0.9064 1.1370 6 dominant HG002 HG002 chr3:175764554:G:T 1,.,. -1 -1 -1 -1 -1 -1 NAALADL2 50_intron 44,.,. 0.386364,.,. NAALADL2/intron/ 0.0000 0.9064 1.1370 6 dominant HG002 HG002 chr3:175764556:T:A 1,.,. -1 -1 -1 0.00140154 0 4 NAALADL2 50_intron 41,.,. 0.414634,.,. NAALADL2/intron/ 0.0000 0.9064 1.1370 6 dominant HG002 HG002 chr3:176193891:C:G 1,.,. 2.63578e-05 0 4 -1 -1 -1 49,.,. 0.55102,.,. recessive HG002 HG002 chr3:176369294:TGCAA:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr3:176369299:T:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr3:176441748:A:G 1,.,. 2.62805e-05 0 4 -1 -1 -1 51,.,. 0.490196,.,. dominant HG002 HG002 chr3:176468325:GCT:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. recessive HG002 HG002 chr3:176649978:C:A 2,.,. 0.00205919 0 70 0.00105116 0 3 54,.,. 0.981481,.,. dominant HG002 HG002 chr3:176705119:T:A 1,.,. 2.63449e-05 0 4 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr3:176718297:A:G 1,.,. 2.62888e-05 0 4 -1 -1 -1 51,.,. 0.568627,.,. dominant HG002 HG002 chr3:176726153:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr3:176726154:C:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr3:176752588:G:GGGGGAGGGGAGTGGA 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.444444,.,. recessive HG002 HG002 chr3:176900480:A:ACTATTTC 2,.,. 0.000125486 0 2 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr3:176900482:A:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr3:176900483:C:A 2,.,. 0.00137174 0 2 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr3:176965988:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. recessive HG002 HG002 chr3:177448975:T:TTTCAGC 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr3:177448977:A:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr3:177448978:T:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr3:177655940:G:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. recessive HG002 HG002 chr3:177768897:GCACCTAGCTA:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr3:177768910:T:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr3:177768911:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr3:177780274:CATAGTCTAGATTAA:C 1,.,. 7.66518e-05 0 1 -1 -1 -1 47,.,. 0.574468,.,. dominant HG002 HG002 chr3:177995140:G:A 1,.,. 6.57895e-06 0 1 -1 -1 -1 54,.,. 0.462963,.,. dominant HG002 HG002 chr3:178014519:G:A 1,.,. 6.69604e-06 0 1 -1 -1 -1 50,.,. 0.36,.,. dominant HG002 HG002 chr3:178141524:TCCTCCCTC:T 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.565217,.,. dominant HG002 HG002 chr3:178483713:A:G 1,.,. -1 -1 -1 -1 -1 -1 KCNMB2 50_intron 41,.,. 0.609756,.,. KCNMB2/intron/ 0.8841 0.2968 0.5860 2 dominant HG002 HG002 chr3:179339995:A:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.294118,.,. dominant HG002 HG002 chr3:179971185:T:TTCTCTCTC 1,.,. -1 -1 -1 -1 -1 -1 PEX5L 50_intron 45,.,. 0.555556,.,. PEX5L/intron/;PEX5L/non_coding/ 0.8935 0.3666 0.5280 1 dominant HG002 HG002 chr3:179980540:G:A 1,.,. -1 -1 -1 -1 -1 -1 PEX5L 50_intron 47,.,. 0.425532,.,. PEX5L/intron/;PEX5L/non_coding/ 0.8935 0.3666 0.5280 1 dominant HG002 HG002 chr3:179984680:GTCAATTTGTCTT:G 1,.,. -1 -1 -1 -1 -1 -1 PEX5L 50_intron 47,.,. 0.489362,.,. PEX5L/intron/;PEX5L/non_coding/ 0.8935 0.3666 0.5280 1 dominant HG002 HG002 chr3:179984694:T:A 1,.,. -1 -1 -1 -1 -1 -1 PEX5L 50_intron 46,.,. 0.5,.,. PEX5L/intron/;PEX5L/non_coding/ 0.8935 0.3666 0.5280 1 dominant HG002 HG002 chr3:180031089:GATATT:G 1,.,. -1 -1 -1 -1 -1 -1 PEX5L 50_intron 31,.,. 0.580645,.,. PEX5L/intron/;PEX5L/non_coding/ 0.8935 0.3666 0.5280 1 dominant HG002 HG002 chr3:180031095:T:G 1,.,. -1 -1 -1 -1 -1 -1 PEX5L 50_intron 31,.,. 0.580645,.,. PEX5L/intron/;PEX5L/non_coding/ 0.8935 0.3666 0.5280 1 dominant HG002 HG002 chr3:180031096:A:G 1,.,. -1 -1 -1 -1 -1 -1 PEX5L 50_intron 32,.,. 0.59375,.,. PEX5L/intron/;PEX5L/non_coding/ 0.8935 0.3666 0.5280 1 dominant HG002 HG002 chr3:180031098:A:C 1,.,. -1 -1 -1 -1 -1 -1 PEX5L 50_intron 31,.,. 0.580645,.,. PEX5L/intron/;PEX5L/non_coding/ 0.8935 0.3666 0.5280 1 dominant HG002 HG002 chr3:180031099:C:T 1,.,. -1 -1 -1 -1 -1 -1 PEX5L 50_intron 32,.,. 0.5625,.,. PEX5L/intron/;PEX5L/non_coding/ 0.8935 0.3666 0.5280 1 dominant HG002 HG002 chr3:180041834:C:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr3:180041835:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr3:180041836:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr3:180041837:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr3:180041840:G:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr3:180592949:G:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr3:180593807:AAAATT:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.416667,.,. dominant HG002 HG002 chr3:181526818:TA:T 1,.,. 1.31416e-05 0 2 -1 -1 -1 48,.,. 0.645833,.,. dominant HG002 HG002 chr3:181907609:T:A 1,.,. -1 -1 -1 0.000700771 0 2 34,.,. 0.264706,.,. dominant HG002 HG002 chr3:182335037:C:G 1,.,. 6.58631e-06 0 1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr3:182440049:C:A 1,.,. 6.57644e-06 0 1 -1 -1 -1 57,.,. 0.473684,.,. dominant HG002 HG002 chr3:183189614:TACCATA:T 1,.,. -1 -1 -1 -1 -1 -1 MCF2L2 50_intron 33,.,. 0.545455,.,. MCF2L2/intron/;MCF2L2/non_coding/ 0.0000 0.6655 0.8090 3 dominant HG002 HG002 chr3:183189622:T:A 1,.,. -1 -1 -1 -1 -1 -1 MCF2L2 50_intron 31,.,. 0.580645,.,. MCF2L2/intron/;MCF2L2/non_coding/ 0.0000 0.6655 0.8090 3 dominant HG002 HG002 chr3:183236016:C:T 1,.,. -1 -1 -1 0.00105116 0 3 MCF2L2 50_intron 29,.,. 0.517241,.,. MCF2L2/intron/;MCF2L2/non_coding/ 0.0000 0.6655 0.8090 3 recessive HG002 HG002 chr3:183366992:C:T 2,.,. 0.00486055 4 740 0.0024527 0 7 MCF2L2 50_intron 35,.,. 1,.,. MCF2L2/intron/;MCF2L2/non_coding/ 0.0000 0.6655 0.8090 3 dominant HG002 HG002 chr3:183421005:T:C 1,.,. 1.31486e-05 0 2 -1 -1 -1 MCF2L2 50_intron 32,.,. 0.5,.,. MCF2L2/intron/ 0.0000 0.6655 0.8090 3 dominant HG002 HG002 chr3:183597139:A:AAGGGAGGGAGGGAGGG 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.47619,.,. dominant HG002 HG002 chr3:183613497:A:G 1,.,. 1.97283e-05 0 3 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr3:183626034:GTGTTTTTTT:G 1,.,. -1 -1 -1 0.00105116 0 3 31,.,. 0.451613,.,. dominant HG002 HG002 chr3:183626046:G:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5625,.,. dominant HG002 HG002 chr3:183678926:TTACACAG:T 1,.,. -1 -1 -1 -1 -1 -1 KLHL24 50_intron 40,.,. 0.6,.,. KLHL24/intron/ 0.2069 0.4217 0.6490 2 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies;Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 0.000 dominant HG002 HG002 chr3:183678934:A:C 1,.,. -1 -1 -1 -1 -1 -1 KLHL24 50_intron 40,.,. 0.6,.,. KLHL24/intron/ 0.2069 0.4217 0.6490 2 Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies;Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 0.000 recessive HG002 HG002 chr3:183755733:CTTCCTTTCTT:C 2,.,. 0.000195293 0 8 -1 -1 -1 YEATS2 50_intron 18,.,. 1,.,. YEATS2/intron/ 0.0003 0.4487 0.5520 1 Epilepsy, familial adult myoclonic, 4 0.000 dominant HG002 HG002 chr3:183803831:T:C 1,.,. -1 -1 -1 -1 -1 -1 YEATS2 50_intron 24,.,. 0.666667,.,. YEATS2/intron/;YEATS2/non_coding/ 0.0003 0.4487 0.5520 1 Epilepsy, familial adult myoclonic, 4 0.000 recessive HG002 HG002 chr3:184039048:A:ATGTCAGTCCAAAT 2,.,. -1 -1 -1 -1 -1 -1 HTR3D 36_3_prime_utr 33,.,. 1,.,. HTR3D/3_prime_utr/ENST00000334128;HTR3D/3_prime_utr/ENST00000428798;HTR3D/3_prime_utr/ENST00000382489;HTR3D/3_prime_utr/ENST00000453435 0.0000 0.9995 1.2810 7 recessive HG002 HG002 chr3:184039049:G:T 2,.,. -1 -1 -1 -1 -1 -1 HTR3D 36_3_prime_utr 33,.,. 1,.,. HTR3D/3_prime_utr/ENST00000334128;HTR3D/3_prime_utr/ENST00000428798;HTR3D/3_prime_utr/ENST00000382489;HTR3D/3_prime_utr/ENST00000453435 0.0000 0.9995 1.2810 7 recessive HG002 HG002 chr3:184397281:A:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chr3:184492781:T:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr3:184497484:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.685714,.,. dominant HG002 HG002 chr3:184502656:T:TGAAATCCAGAGGAGGTAGATAGGTGTGGCTGAAATCCAGAGGACGTAGAGAAGTGTGGCTGAAATCCAGAGGAGGTAGATAGGTGTGGCC 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.292683,.,. dominant HG002 HG002 chr3:185288520:A:ATGTGTG 1,.,. -1 -1 -1 -1 -1 -1 MAP3K13 50_intron 33,.,. 0.545455,.,. MAP3K13/intron/ 0.0000 0.5057 0.6520 2 dominant HG002 HG002 chr3:185320818:GATTAAACTGCAATTT:G 1,.,. 6.57964e-06 0 1 -1 -1 -1 MAP3K13 50_intron 42,.,. 0.5,.,. MAP3K13/intron/ 0.0000 0.5057 0.6520 2 dominant HG002 HG002 chr3:185320836:A:T 1,.,. -1 -1 -1 -1 -1 -1 MAP3K13 50_intron 42,.,. 0.5,.,. MAP3K13/intron/ 0.0000 0.5057 0.6520 2 recessive HG002 HG002 chr3:185457136:C:CCTGAA 2,.,. -1 -1 -1 -1 -1 -1 MAP3K13 50_intron 32,.,. 1,.,. MAP3K13/intron/ 0.0000 0.5057 0.6520 2 recessive HG002 HG002 chr3:185457137:A:C 2,.,. -1 -1 -1 -1 -1 -1 MAP3K13 50_intron 33,.,. 1,.,. MAP3K13/intron/ 0.0000 0.5057 0.6520 2 dominant HG002 HG002 chr3:185826636:C:T 1,.,. 6.57479e-06 0 1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr3:185852949:C:T 1,.,. 1.9727e-05 0 3 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr3:185981782:G:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr3:186125897:G:T 1,.,. -1 -1 -1 -1 -1 -1 DGKG 53_non_coding 25,.,. 0.56,.,. DGKG/non_coding/ 0.0000 0.7417 0.9150 4 dominant HG002 HG002 chr3:186125898:T:G 1,.,. 1.58178e-05 0 1 -1 -1 -1 DGKG 53_non_coding 25,.,. 0.56,.,. DGKG/non_coding/ 0.0000 0.7417 0.9150 4 dominant HG002 HG002 chr3:186125899:G:T 1,.,. -1 -1 -1 -1 -1 -1 DGKG 53_non_coding 25,.,. 0.56,.,. DGKG/non_coding/ 0.0000 0.7417 0.9150 4 dominant HG002 HG002 chr3:186599061:G:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr3:186654719:A:AT 1,.,. 6.57765e-06 0 1 -1 -1 -1 27,.,. 0.296296,.,. dominant HG002 HG002 chr3:186889777:TTCTTCTTCC:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr3:186988927:AAAACC:A 1,.,. 2.62881e-05 0 4 -1 -1 -1 ST6GAL1 50_intron 25,.,. 0.28,.,. ST6GAL1/intron/ 0.0065 0.4997 0.7330 2 dominant HG002 HG002 chr3:186993572:A:T 1,.,. -1 -1 -1 -1 -1 -1 ST6GAL1 50_intron 28,.,. 0.642857,.,. ST6GAL1/intron/ 0.0065 0.4997 0.7330 2 dominant HG002 HG002 chr3:187211811:TGC:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr3:187211814:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. recessive HG002 HG002 chr3:187234248:G:A 2,.,. -1 -1 -1 0.0105116 1 30 MASP1 36_3_prime_utr 39,.,. 1,.,. MASP1/3_prime_utr/ENST00000296280;MASP1/3_prime_utr/ENST00000392472 0.0000 0.6999 0.8740 4 3MC syndrome 1 0.000 recessive HG002 HG002 chr3:187234249:A:G 2,.,. -1 -1 -1 -1 -1 -1 MASP1 36_3_prime_utr 38,.,. 1,.,. MASP1/3_prime_utr/ENST00000296280;MASP1/3_prime_utr/ENST00000392472 0.0000 0.6999 0.8740 4 3MC syndrome 1 0.000 dominant HG002 HG002 chr3:187603884:C:CTGTATCATGGG 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.594595,.,. dominant HG002 HG002 chr3:187603886:A:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.611111,.,. dominant HG002 HG002 chr3:187616097:CACCAATTTTTAATT:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.657895,.,. dominant HG002 HG002 chr3:187616112:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.657895,.,. dominant HG002 HG002 chr3:187745319:C:T 1,.,. 1.97127e-05 0 3 -1 -1 -1 AC072022.2 30_synonymous 42,.,. 0.47619,.,. AC072022.2/synonymous/ENST00000648485 dominant HG002 HG002 chr3:188269643:T:TTTATATGTG 1,.,. -1 -1 -1 -1 -1 -1 LPP 50_intron 37,.,. 0.405405,.,. LPP/intron/ 0.0000 0.5749 0.7650 3 0.000 dominant HG002 HG002 chr3:188332240:T:C 1,.,. 6.56953e-06 0 1 -1 -1 -1 LPP 50_intron 53,.,. 0.54717,.,. LPP/intron/ 0.0000 0.5749 0.7650 3 0.000 recessive HG002 HG002 chr3:188405879:CTCTT:C 2,.,. 0.000454649 0 4 -1 -1 -1 LPP 50_intron 46,.,. 1,.,. LPP/intron/;LPP/non_coding/ 0.0000 0.5749 0.7650 3 0.000 recessive HG002 HG002 chr3:188405897:C:T 2,.,. 0.00251661 1 25 -1 -1 -1 LPP 50_intron 47,.,. 1,.,. LPP/intron/;LPP/non_coding/ 0.0000 0.5749 0.7650 3 0.000 dominant HG002 HG002 chr3:188577744:TGTTCCTTC:T 1,.,. 4.82765e-05 0 2 -1 -1 -1 LPP 50_intron 41,.,. 0.536585,.,. LPP/intron/;LPP/non_coding/ 0.0000 0.5749 0.7650 3 0.000 dominant HG002 HG002 chr3:188862722:A:T 1,.,. -1 -1 -1 -1 -1 -1 LPP 50_intron 36,.,. 0.555556,.,. LPP/intron/;LPP/non_coding/ 0.0000 0.5749 0.7650 3 0.000 dominant HG002 HG002 chr3:188862727:A:T 1,.,. -1 -1 -1 -1 -1 -1 LPP 50_intron 35,.,. 0.571429,.,. LPP/intron/;LPP/non_coding/ 0.0000 0.5749 0.7650 3 0.000 dominant HG002 HG002 chr3:188901092:G:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.609756,.,. dominant HG002 HG002 chr3:188980838:C:T 1,.,. 6.57091e-06 0 1 -1 -1 -1 TPRG1 50_intron 39,.,. 0.384615,.,. TPRG1/intron/;TPRG1/non_coding/ 0.0000 0.9498 1.2950 7 dominant HG002 HG002 chr3:189675946:A:T 1,.,. -1 -1 -1 -1 -1 -1 TP63 50_intron 54,.,. 0.425926,.,. TP63/intron/;TP63/non_coding/ 1.0000 0.1976 0.2960 0 Orofacial cleft 8;Rapp-Hodgkin syndrome;Limb-mammary syndrome;Premature ovarian failure 21;ADULT syndrome;Split hand-foot malformation 4;Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3;Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 0.000 recessive HG002 HG002 chr3:190371039:T:A 2,.,. 0.0227577 0 68 -1 -1 -1 CLDN16 53_non_coding 35,.,. 1,.,. CLDN16/non_coding/ 0.0078 0.5356 0.8370 3 Primary hypomagnesemia 0.000 dominant HG002 HG002 chr3:190380141:T:TTCCTTCCTTCC 1,.,. -1 -1 -1 -1 -1 -1 CLDN16 53_non_coding 46,.,. 0.521739,.,. CLDN16/non_coding/ 0.0078 0.5356 0.8370 3 Primary hypomagnesemia 0.000 dominant HG002 HG002 chr3:190389655:T:TAGAATTGAAC 1,.,. -1 -1 -1 -1 -1 -1 CLDN16 50_intron 55,.,. 0.509091,.,. CLDN16/non_coding/;CLDN16/intron/ 0.0078 0.5356 0.8370 3 Primary hypomagnesemia 0.000 dominant HG002 HG002 chr3:190389656:G:T 1,.,. -1 -1 -1 -1 -1 -1 CLDN16 50_intron 55,.,. 0.509091,.,. CLDN16/non_coding/;CLDN16/intron/ 0.0078 0.5356 0.8370 3 Primary hypomagnesemia 0.000 dominant HG002 HG002 chr3:190389657:T:A 1,.,. -1 -1 -1 -1 -1 -1 CLDN16 50_intron 55,.,. 0.509091,.,. CLDN16/non_coding/;CLDN16/intron/ 0.0078 0.5356 0.8370 3 Primary hypomagnesemia 0.000 dominant HG002 HG002 chr3:190516739:AATGCT:A 1,.,. -1 -1 -1 -1 -1 -1 IL1RAP 50_intron 38,.,. 0.473684,.,. IL1RAP/intron/;IL1RAP/non_coding/ 0.0003 0.5414 0.7610 3 dominant HG002 HG002 chr3:190544121:T:C 1,.,. -1 -1 -1 -1 -1 -1 IL1RAP 50_intron 61,.,. 0.57377,.,. IL1RAP/intron/;IL1RAP/non_coding/ 0.0003 0.5414 0.7610 3 dominant HG002 HG002 chr3:190757328:A:G 1,.,. 6.59613e-06 0 1 -1 -1 -1 50,.,. 0.54,.,. dominant HG002 HG002 chr3:190862358:C:CAGAG 1,.,. -1 -1 -1 -1 -1 -1 GMNC 50_intron 39,.,. 0.410256,.,. GMNC/intron/;GMNC/non_coding/ 0.0069 0.5546 0.8820 4 dominant HG002 HG002 chr3:191042313:T:C 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.433962,.,. dominant HG002 HG002 chr3:191075327:TACACACAC:T 1,.,. 4.06091e-05 0 2 -1 -1 -1 37,.,. 0.459459,.,. recessive HG002 HG002 chr3:191150609:C:T 2,.,. -1 -1 -1 0.00280308 0 8 51,.,. 1,.,. dominant HG002 HG002 chr3:191210955:T:C 1,.,. 6.56909e-06 0 1 -1 -1 -1 OSTN 50_intron 47,.,. 0.425532,.,. OSTN/intron/ 0.0145 0.7454 1.4560 8 dominant HG002 HG002 chr3:191266148:ATTATT:A 1,.,. 6.7897e-06 0 1 -1 -1 -1 48,.,. 0.395833,.,. dominant HG002 HG002 chr3:191279891:T:C 1,.,. -1 -1 -1 -1 -1 -1 UTS2B 50_intron 51,.,. 0.45098,.,. UTS2B/intron/;UTS2B/non_coding/ 0.0942 0.6550 1.5910 8 recessive HG002 HG002 chr3:191385701:G:T 2,.,. 1.84522e-05 0 1 -1 -1 -1 CCDC50 50_intron 46,.,. 1,.,. CCDC50/intron/ 0.0000 0.7233 0.9330 4 Autosomal dominant nonsyndromic hearing loss 44 0.000 dominant HG002 HG002 chr3:191735481:G:GATGATGATTTGC 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.391304,.,. dominant HG002 HG002 chr3:191735482:G:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.382979,.,. dominant HG002 HG002 chr3:191975960:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr3:192059251:GAGCCTCTGGTCAC:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr3:192059268:A:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr3:192235696:G:T 1,.,. -1 -1 -1 -1 -1 -1 FGF12 50_intron 50,.,. 0.46,.,. FGF12/intron/;FGF12/non_coding/ 0.1471 0.4720 0.9320 4 Developmental and epileptic encephalopathy, 47 0.000 dominant HG002 HG002 chr3:192407708:G:GATGAATGAATGA 1,.,. -1 -1 -1 -1 -1 -1 FGF12 50_intron 43,.,. 0.534884,.,. FGF12/intron/ 0.1471 0.4720 0.9320 4 Developmental and epileptic encephalopathy, 47 0.000 dominant HG002 HG002 chr3:192660989:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 FGF12 50_intron 39,.,. 0.435897,.,. FGF12/intron/ 0.1471 0.4720 0.9320 4 Developmental and epileptic encephalopathy, 47 0.000 dominant HG002 HG002 chr3:192919680:T:TTGTG 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr3:193356917:G:A 1,.,. -1 -1 -1 -1 -1 -1 ATP13A5 50_intron 48,.,. 0.479167,.,. ATP13A5/intron/ 0.0000 0.9241 1.0720 5 dominant HG002 HG002 chr3:193431314:A:ACTG 1,.,. -1 -1 -1 -1 -1 -1 ATP13A4 50_intron 54,.,. 0.592593,.,. ATP13A4/intron/ 0.0000 0.7623 0.8960 4 dominant HG002 HG002 chr3:193431316:G:T 1,.,. -1 -1 -1 -1 -1 -1 ATP13A4 50_intron 54,.,. 0.592593,.,. ATP13A4/intron/ 0.0000 0.7623 0.8960 4 dominant HG002 HG002 chr3:193511680:C:CCCATTTTACAAGTGGTGAAATTGAGGTCCTAAAAAGTTAGGTAACAAACCTAAAGTACTAGGACAAGAAATCAAAACGTTTGACTCCTTCATTCTCACACTGCT 1,.,. -1 -1 -1 -1 -1 -1 ATP13A4 50_intron 34,.,. 0.470588,.,. ATP13A4/intron/;ATP13A4/non_coding/ 0.0000 0.7623 0.8960 4 dominant HG002 HG002 chr3:194110069:ATATTTATTTATTTATT:A 1,.,. 0.000393856 0 4 -1 -1 -1 25,.,. 0.4,.,. dominant HG002 HG002 chr3:194110087:A:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.384615,.,. recessive HG002 HG002 chr3:194324724:A:AACACATACACACACACACCACACACCACACACCCACACACCCGACACACAGACCACACAGACCACATACACACACACACCACACACACCATACACACACACACCCGACACACAGACCACACACACAACACATACACACACACACCACACACACCATACACACACACACCCGACACAGACCACACACACACCACATACACACACACCACACACCATACACCCACACACCCGACACACAGACCACACACACACCACATACACACACACCACACACACCATACACACACACACCTGACACACAGACCACACACACCACATACACACACACCACACACACCATACACACACACACCCGACACACAGACCACACACACAACACATACACACACACCCCATACACCCACACACCCGACACACAGACCACACACACGCCACATACACACACACCACACACACCATACACACACACACCTGACACACAGACCACACACACACCACATACACACACACCACACACACCATACACCCACACACCCGACACACAGACCACACACACGCCACATACACACACACTACACACACACCATACACACACACCAGACATACACCCACACACCACATACACACACACCACACACACCATACACCCACACACCCGACACACAGACCACACACAC 2,.,. -1 -1 -1 0.0287316 2 82 7,.,. 1,.,. recessive HG002 HG002 chr3:194527950:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr3:194734582:C:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr3:194822569:T:G 1,.,. 2.41756e-05 0 1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr3:194846453:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr3:195097011:C:A 1,.,. -1 -1 -1 -1 -1 -1 XXYLT1 50_intron 28,.,. 0.571429,.,. XXYLT1/intron/;XXYLT1/non_coding/ 0.0000 0.7791 1.1320 6 recessive HG002 HG002 chr3:195109865:T:G 2,.,. -1 -1 -1 -1 -1 -1 XXYLT1 50_intron 22,.,. 1,.,. XXYLT1/intron/;XXYLT1/non_coding/ 0.0000 0.7791 1.1320 6 recessive HG002 HG002 chr3:195112518:A:C 2,.,. -1 -1 -1 -1 -1 -1 XXYLT1 50_intron 25,.,. 1,.,. XXYLT1/intron/;XXYLT1/non_coding/ 0.0000 0.7791 1.1320 6 dominant HG002 HG002 chr3:195568831:T:TGGCG 1,.,. -1 -1 -1 0.000700771 0 2 APOD 36_3_prime_utr 34,.,. 0.529412,.,. APOD/3_prime_utr/ENST00000343267;APOD/3_prime_utr&NMD_transcript/ENST00000458447 0.0000 1.0061 1.4360 7 dominant HG002 HG002 chr3:195746888:G:T 1,.,. -1 -1 -1 -1 -1 -1 MUC4 36_3_prime_utr 33,.,. 0.575758,.,. MUC4/3_prime_utr&NMD_transcript/ENST00000308466;MUC4/3_prime_utr&NMD_transcript/ENST00000448861;MUC4/3_prime_utr&NMD_transcript/ENST00000339251;MUC4/3_prime_utr&NMD_transcript/ENST00000415455;MUC4/3_prime_utr&NMD_transcript/ENST00000392407;MUC4/3_prime_utr&NMD_transcript/ENST00000478156;MUC4/3_prime_utr/ENST00000349607;MUC4/3_prime_utr/ENST00000346145;MUC4/3_prime_utr/ENST00000463781 0.0000 0.8474 0.9530 4 dominant HG002 HG002 chr3:195763967:ATCCAGAT:A 1,.,. -1 -1 -1 -1 -1 -1 MUC4 50_intron 22,.,. 0.409091,.,. MUC4/intron/ 0.0000 0.8474 0.9530 4 dominant HG002 HG002 chr3:195763975:G:A 1,.,. -1 -1 -1 -1 -1 -1 MUC4 50_intron 22,.,. 0.409091,.,. MUC4/intron/ 0.0000 0.8474 0.9530 4 dominant HG002 HG002 chr3:195794088:A:AAATAAT 1,.,. -1 -1 -1 -1 -1 -1 MUC4 50_intron 35,.,. 0.342857,.,. MUC4/intron/ 0.0000 0.8474 0.9530 4 dominant HG002 HG002 chr3:195875660:C:T 1,.,. -1 -1 -1 -1 -1 -1 TNK2 50_intron 14,.,. 0.428571,.,. TNK2/intron/;TNK2/non_coding/ 0.0000 0.8510 1.0210 5 dominant HG002 HG002 chr3:196006907:C:CCTGAG 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr3:196006912:A:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr3:196102771:A:ATACTTAG 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.37037,.,. dominant HG002 HG002 chr3:196102772:A:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.37037,.,. dominant HG002 HG002 chr3:196210341:G:A 1,.,. -1 -1 -1 -1 -1 -1 ZDHHC19 50_intron 29,.,. 0.37931,.,. ZDHHC19/intron/;ZDHHC19/non_coding/ 0.0000 0.8883 1.2050 6 dominant HG002 HG002 chr3:196210342:A:G 1,.,. -1 -1 -1 -1 -1 -1 ZDHHC19 50_intron 29,.,. 0.37931,.,. ZDHHC19/intron/;ZDHHC19/non_coding/ 0.0000 0.8883 1.2050 6 dominant HG002 HG002 chr3:196210344:A:G 1,.,. -1 -1 -1 -1 -1 -1 ZDHHC19 50_intron 29,.,. 0.37931,.,. ZDHHC19/intron/;ZDHHC19/non_coding/ 0.0000 0.8883 1.2050 6 dominant HG002 HG002 chr3:196210346:G:A 1,.,. -1 -1 -1 -1 -1 -1 ZDHHC19 50_intron 29,.,. 0.37931,.,. ZDHHC19/intron/;ZDHHC19/non_coding/ 0.0000 0.8883 1.2050 6 recessive HG002 HG002 chr3:196210444:G:A 2,.,. 8.20775e-06 0 1 -1 -1 -1 ZDHHC19 50_intron 28,.,. 1,.,. ZDHHC19/intron/;ZDHHC19/non_coding/ 0.0000 0.8883 1.2050 6 dominant HG002 HG002 chr3:196271951:G:C 1,.,. -1 -1 -1 0.00140154 0 4 PCYT1A 50_intron 36,.,. 0.583333,.,. PCYT1A/intron/;PCYT1A/non_coding/ 0.0192 0.5504 0.9340 4 Lipodystrophy, congenital generalized, type 5;Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 0.000 recessive HG002 HG002 chr3:196461481:T:C 2,.,. -1 -1 -1 0.00630694 0 18 28,.,. 1,.,. recessive HG002 HG002 chr3:196461482:C:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr3:196928843:C:G 1,.,. -1 -1 -1 -1 -1 -1 SENP5 50_intron 36,.,. 0.611111,.,. SENP5/intron/ 0.9979 0.3017 0.4580 1 dominant HG002 HG002 chr3:196944477:CCT:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr3:196944481:A:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr3:197274790:A:G 1,.,. 6.56814e-06 0 1 -1 -1 -1 DLG1 50_intron 41,.,. 0.463415,.,. DLG1/intron/;DLG1/non_coding/ 0.9874 0.3311 0.4910 1 0.000 dominant HG002 HG002 chr3:197359917:G:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr3:197531416:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 BDH1 50_intron 35,.,. 0.371429,.,. BDH1/intron/;BDH1/non_coding/ 0.0000 0.8762 1.1880 6 dominant HG002 HG002 chr3:197581840:C:T 1,.,. -1 -1 -1 -1 -1 -1 AC132008.2 53_non_coding 38,.,. 0.5,.,. AC132008.2/non_coding/ dominant HG002 HG002 chr3:197624023:T:TTTTC 1,.,. -1 -1 -1 -1 -1 -1 AC132008.2 53_non_coding 34,.,. 0.5,.,. AC132008.2/non_coding/ dominant HG002 HG002 chr3:197624024:C:A 1,.,. -1 -1 -1 -1 -1 -1 AC132008.2 53_non_coding 34,.,. 0.5,.,. AC132008.2/non_coding/ dominant HG002 HG002 chr3:197658852:C:CGGCCCTGCAGCCCCCACAGACAGAGAGACCCCTGTGTGAAGTCCGGGCTCCTCAGGCACT 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.333333,.,. dominant HG002 HG002 chr3:197766428:C:CGTGTGTGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 FYTTD1 50_intron 39,.,. 0.358974,.,. FYTTD1/intron/ 0.1195 0.4677 0.8440 3 dominant HG002 HG002 chr3:198112059:T:TCTGC 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr3:198112060:T:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr3:198163031:A:G 1,.,. -1 -1 -1 0.00105116 0 3 FAM157A 53_non_coding 34,.,. 0.529412,.,. FAM157A/non_coding/ dominant HG002 HG002 chr3:198174508:G:A 1,.,. 7.81287e-06 0 1 0.00105116 0 3 FAM157A 53_non_coding 36,.,. 0.555556,.,. FAM157A/non_coding/ dominant HG002 HG002 chr3:198174518:G:GGTTAA 1,.,. -1 -1 -1 0.00105116 0 3 FAM157A 53_non_coding 35,.,. 0.542857,.,. FAM157A/non_coding/ dominant HG002 HG002 chr4:415918:A:AACACACACGCACAC 1,.,. 2.65632e-05 0 3 -1 -1 -1 42,.,. 0.380952,.,. dominant HG002 HG002 chr4:415928:C:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.380952,.,. dominant HG002 HG002 chr4:808562:T:C 1,.,. -1 -1 -1 -1 -1 -1 CPLX1 50_intron 26,.,. 0.5,.,. CPLX1/intron/ 0.4357 0.3832 0.7560 3 4p partial monosomy syndrome;Developmental and epileptic encephalopathy, 63 0.000 dominant HG002 HG002 chr4:1547540:CCA:C 1,.,. 1.56735e-05 0 2 -1 -1 -1 19,.,. 0.473684,.,. dominant HG002 HG002 chr4:1547543:G:A 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.473684,.,. dominant HG002 HG002 chr4:1614350:A:AGTGAGGGGGATGCAGAGACGTGAGGGGGATGCAGAGACGTGAGGGGCATGCAGAGAC 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.434783,.,. dominant HG002 HG002 chr4:1666255:A:ACCCTGTATCTAAAATAAAACGTGCACC 1,.,. -1 -1 -1 -1 -1 -1 FAM53A 50_intron 20,.,. 0.4,.,. FAM53A/intron/ 0.0000 1.3195 1.7770 8 dominant HG002 HG002 chr4:2147633:TTTTTC:T 1,.,. 2.95587e-05 0 2 -1 -1 -1 POLN;HAUS3 50_intron 41,.,. 0.292683,.,. POLN/intron/;POLN/non_coding/;HAUS3/intron/ 0.0000;;0.0002 0.8365;;0.5496 1.0190;;0.7730 5;;3 dominant HG002 HG002 chr4:2368229:A:C 1,.,. -1 -1 -1 -1 -1 -1 ZFYVE28 50_intron 21,.,. 0.238095,.,. ZFYVE28/intron/ 0.0000 0.5201 0.6770 2 dominant HG002 HG002 chr4:2399032:G:GGGTGAGATCCAGGGCACAAGCGTGGA 1,.,. -1 -1 -1 -1 -1 -1 ZFYVE28 50_intron 19,.,. 0.315789,.,. ZFYVE28/intron/ 0.0000 0.5201 0.6770 2 dominant HG002 HG002 chr4:2447917:ATGAATGGATGGG:A 1,.,. -1 -1 -1 -1 -1 -1 CFAP99 50_intron 26,.,. 0.538462,.,. CFAP99/intron/;CFAP99/non_coding/ 0.0000 0.9876 1.2030 6 dominant HG002 HG002 chr4:2447937:A:G 1,.,. -1 -1 -1 -1 -1 -1 CFAP99 50_intron 25,.,. 0.56,.,. CFAP99/intron/;CFAP99/non_coding/ 0.0000 0.9876 1.2030 6 dominant HG002 HG002 chr4:2852667:T:TG 1,.,. -1 -1 -1 -1 -1 -1 ADD1 50_intron 30,.,. 0.5,.,. ADD1/intron/;ADD1/non_coding/ 1.0000 0.2733 0.3870 0 Essential hypertension, genetic 0.000 dominant HG002 HG002 chr4:2852668:T:A 1,.,. -1 -1 -1 -1 -1 -1 ADD1 50_intron 30,.,. 0.5,.,. ADD1/intron/;ADD1/non_coding/ 1.0000 0.2733 0.3870 0 Essential hypertension, genetic 0.000 dominant HG002 HG002 chr4:2852669:C:T 1,.,. -1 -1 -1 -1 -1 -1 ADD1 50_intron 30,.,. 0.5,.,. ADD1/intron/;ADD1/non_coding/ 1.0000 0.2733 0.3870 0 Essential hypertension, genetic 0.000 dominant HG002 HG002 chr4:3037073:G:GTGTGTA 1,.,. -1 -1 -1 -1 -1 -1 GRK4 50_intron 27,.,. 0.37037,.,. GRK4/intron/;GRK4/non_coding/ 0.0000 0.9815 1.2620 7 dominant HG002 HG002 chr4:3483014:G:A 1,.,. -1 -1 -1 0.000700771 0 2 DOK7 50_intron 30,.,. 0.633333,.,. DOK7/intron/;DOK7/non_coding/ 0.0000 1.2488 1.6580 8 Congenital myasthenic syndrome 10;Fetal akinesia deformation sequence 3 0.000 recessive HG002 HG002 chr4:3609859:C:T 2,.,. 0.00200086 3 299 0.0129643 1 37 19,.,. 1,.,. dominant HG002 HG002 chr4:3826051:TGCACAGAAGGTCCCGTTACAATCTCTGAACAGAAAGTTCCGTTACAATCCCTGCACCCCTGCACAGGAGGCCCCATTAAAACCCCTGCACAGGAGGCCCCGTTAAAATTCCTGCAAGGGAGGCCACATTACAATTCCCGCACGGGAGGCCCCGTTACAATTCCCGCACGGGAGGCCCCGTTACAACCCCTGCACGGGAGGCCCCGTTACAATTCCC:T 1,.,. 8.83361e-06 0 1 -1 -1 -1 28,.,. 0.392857,.,. dominant HG002 HG002 chr4:3973433:G:GGAGAGAGAGAGA 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.5,.,. dominant HG002 HG002 chr4:4299779:G:T 1,.,. -1 -1 -1 -1 -1 -1 ZBTB49 50_intron 26,.,. 0.461538,.,. ZBTB49/intron/ 0.0000 0.5921 0.8270 3 dominant HG002 HG002 chr4:4472220:G:T 1,.,. -1 -1 -1 -1 -1 -1 STX18 50_intron 31,.,. 0.548387,.,. STX18/intron/;STX18/non_coding/ 0.0000 0.6704 0.9140 4 dominant HG002 HG002 chr4:4816483:G:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.529412,.,. dominant HG002 HG002 chr4:4854017:T:A 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.611111,.,. dominant HG002 HG002 chr4:4857070:C:G 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.347826,.,. recessive HG002 HG002 chr4:5015423:C:A 2,.,. -1 -1 -1 -1 -1 -1 CYTL1 50_intron 22,.,. 1,.,. CYTL1/intron/ 0.0000 1.2358 1.7760 8 dominant HG002 HG002 chr4:5122373:C:CTCACTTAT 1,.,. -1 -1 -1 -1 -1 -1 STK32B 50_intron 36,.,. 0.555556,.,. STK32B/intron/ 0.0000 0.8289 1.0570 5 dominant HG002 HG002 chr4:5396771:C:A 1,.,. -1 -1 -1 -1 -1 -1 STK32B 50_intron 37,.,. 0.567568,.,. STK32B/intron/;STK32B/non_coding/ 0.0000 0.8289 1.0570 5 dominant HG002 HG002 chr4:5414359:TTG:T 1,.,. -1 -1 -1 -1 -1 -1 STK32B 50_intron 41,.,. 0.439024,.,. STK32B/intron/;STK32B/non_coding/ 0.0000 0.8289 1.0570 5 dominant HG002 HG002 chr4:5414363:A:T 1,.,. -1 -1 -1 -1 -1 -1 STK32B 50_intron 41,.,. 0.463415,.,. STK32B/intron/;STK32B/non_coding/ 0.0000 0.8289 1.0570 5 dominant HG002 HG002 chr4:5730907:GGCGTGGTGT:G 1,.,. 2.09262e-05 0 2 -1 -1 -1 EVC 50_intron 28,.,. 0.321429,.,. EVC/intron/ 0.0000 0.9688 1.1340 6 Curry-Hall syndrome;Ellis-van Creveld syndrome 0.000 dominant HG002 HG002 chr4:5730919:A:C 1,.,. -1 -1 -1 -1 -1 -1 EVC 50_intron 29,.,. 0.344828,.,. EVC/intron/ 0.0000 0.9688 1.1340 6 Curry-Hall syndrome;Ellis-van Creveld syndrome 0.000 dominant HG002 HG002 chr4:5962990:T:C 1,.,. -1 -1 -1 -1 -1 -1 C4orf50 50_intron 40,.,. 0.525,.,. C4orf50/intron/ 0.0000 1.0485 1.2670 7 dominant HG002 HG002 chr4:5962995:CTTTTCTTTTTTTTT:C 1,.,. -1 -1 -1 -1 -1 -1 C4orf50 50_intron 38,.,. 0.5,.,. C4orf50/intron/ 0.0000 1.0485 1.2670 7 recessive HG002 HG002 chr4:6291031:G:A 2,.,. 0.00203611 1 309 0.00175193 0 5 WFS1 50_intron 30,.,. 1,.,. WFS1/intron/;WFS1/non_coding/ 0.0000 1.3763 1.6400 8 Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Wolfram-like syndrome;Wolfram syndrome 1;Type 2 diabetes mellitus 0.000 dominant HG002 HG002 chr4:6406596:G:C 1,.,. -1 -1 -1 -1 -1 -1 PPP2R2C 50_intron 32,.,. 0.4375,.,. PPP2R2C/intron/;PPP2R2C/non_coding/ 0.9999 0.2213 0.3750 0 dominant HG002 HG002 chr4:6406598:C:A 1,.,. 2.00179e-05 0 3 -1 -1 -1 PPP2R2C 50_intron 26,.,. 0.461538,.,. PPP2R2C/intron/;PPP2R2C/non_coding/ 0.9999 0.2213 0.3750 0 dominant HG002 HG002 chr4:6408030:T:A 1,.,. -1 -1 -1 0.000700771 0 2 PPP2R2C 50_intron 30,.,. 0.466667,.,. PPP2R2C/intron/;PPP2R2C/non_coding/ 0.9999 0.2213 0.3750 0 dominant HG002 HG002 chr4:6525625:C:T 1,.,. 1.97156e-05 0 3 -1 -1 -1 PPP2R2C 50_intron 30,.,. 0.733333,.,. PPP2R2C/intron/ 0.9999 0.2213 0.3750 0 dominant HG002 HG002 chr4:7223872:CTGTTAAGTG:C 1,.,. -1 -1 -1 -1 -1 -1 SORCS2 50_intron 24,.,. 0.375,.,. SORCS2/intron/ 0.0000 0.8263 0.9770 4 dominant HG002 HG002 chr4:7223882:C:A 1,.,. -1 -1 -1 -1 -1 -1 SORCS2 50_intron 24,.,. 0.375,.,. SORCS2/intron/ 0.0000 0.8263 0.9770 4 dominant HG002 HG002 chr4:7223889:GGCCC:G 1,.,. -1 -1 -1 -1 -1 -1 SORCS2 50_intron 24,.,. 0.375,.,. SORCS2/intron/ 0.0000 0.8263 0.9770 4 dominant HG002 HG002 chr4:7223894:A:C 1,.,. -1 -1 -1 -1 -1 -1 SORCS2 50_intron 24,.,. 0.375,.,. SORCS2/intron/ 0.0000 0.8263 0.9770 4 dominant HG002 HG002 chr4:7404006:T:A 1,.,. -1 -1 -1 -1 -1 -1 SORCS2 50_intron 31,.,. 0.322581,.,. SORCS2/intron/;SORCS2/non_coding/ 0.0000 0.8263 0.9770 4 recessive HG002 HG002 chr4:7477301:T:TTTCAGTGGGCTGACCGGGGCTGACCATGG 2,.,. -1 -1 -1 0.00140154 2 4 SORCS2 50_intron 27,.,. 1,.,. SORCS2/intron/;SORCS2/non_coding/ 0.0000 0.8263 0.9770 4 dominant HG002 HG002 chr4:7918482:T:TTCGGCCCAGGTCACCCGCAAACAGGGCTGCCGGAAGAGACAC 1,.,. -1 -1 -1 -1 -1 -1 AFAP1 50_intron 40,.,. 0.6,.,. AFAP1/intron/ 0.0000 0.7502 0.9180 4 dominant HG002 HG002 chr4:8066376:A:G 1,.,. -1 -1 -1 -1 -1 -1 ABLIM2 50_intron 29,.,. 0.517241,.,. ABLIM2/intron/ 0.0000 0.5911 0.7430 3 dominant HG002 HG002 chr4:8094944:TCCTC:T 1,.,. -1 -1 -1 -1 -1 -1 ABLIM2 50_intron 42,.,. 0.333333,.,. ABLIM2/intron/ 0.0000 0.5911 0.7430 3 recessive HG002 HG002 chr4:8224051:A:G 2,.,. 6.58224e-06 0 1 -1 -1 -1 SH3TC1 50_intron 31,.,. 1,.,. SH3TC1/intron/;SH3TC1/non_coding/ 0.0000 1.2313 1.4230 7 dominant HG002 HG002 chr4:8421235:C:A 1,.,. 1.31411e-05 0 2 -1 -1 -1 ACOX3 50_intron 30,.,. 0.533333,.,. ACOX3/intron/ 0.0000 0.9154 1.1140 6 dominant HG002 HG002 chr4:8609055:CCTCACTCCCTCA:C 1,.,. -1 -1 -1 -1 -1 -1 GPR78;CPZ 50_intron 28,.,. 0.5,.,. GPR78/intron/;CPZ/intron/;GPR78/non_coding/ 0.0000;;0.0000 1.9336;;1.7883 1.9750;;1.9660 9;;9 recessive HG002 HG002 chr4:8686977:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr4:8686978:G:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr4:8686979:T:G 2,.,. 1.62591e-05 0 2 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr4:8713574:AATGCGCATCAACTGAAATGCGC:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr4:8713599:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr4:8713600:A:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chr4:8758548:T:G 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.625,.,. dominant HG002 HG002 chr4:8930704:G:T 1,.,. 6.57877e-06 0 1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr4:8931044:C:A 1,.,. 6.57903e-06 0 1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr4:8934567:C:A 1,.,. 1.07177e-05 0 1 -1 -1 -1 26,.,. 0.461538,.,. dominant HG002 HG002 chr4:8942207:A:G 1,.,. 6.58085e-06 0 1 -1 -1 -1 26,.,. 0.576923,.,. dominant HG002 HG002 chr4:9031465:T:TACACACACACACAC 1,.,. 7.93928e-06 0 1 -1 -1 -1 22,.,. 0.727273,.,. dominant HG002 HG002 chr4:9387929:T:C 1,.,. 1.96985e-05 0 3 -1 -1 -1 AC116655.1 53_non_coding 39,.,. 0.410256,.,. AC116655.1/non_coding/ dominant HG002 HG002 chr4:9408788:T:A 1,.,. 1.97122e-05 0 3 -1 -1 -1 44,.,. 0.477273,.,. recessive HG002 HG002 chr4:9469496:T:C 2,.,. 7.28417e-05 1 5 -1 -1 -1 OR7E84P 53_non_coding 19,.,. 1,.,. OR7E84P/non_coding/ dominant HG002 HG002 chr4:9493294:T:TAC 1,.,. 7.07294e-06 0 1 0.00105116 0 3 29,.,. 0.586207,.,. dominant HG002 HG002 chr4:9528432:C:A 1,.,. 6.57376e-06 0 1 -1 -1 -1 23,.,. 0.521739,.,. dominant HG002 HG002 chr4:9592850:A:C 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr4:9604889:C:T 1,.,. 1.96951e-05 0 3 -1 -1 -1 36,.,. 0.416667,.,. recessive HG002 HG002 chr4:9614820:CATG:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr4:9614826:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr4:9616114:G:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr4:9616116:A:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr4:9616117:G:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr4:9616889:G:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr4:9726567:A:G 1,.,. 7.13511e-06 0 1 -1 -1 -1 25,.,. 0.4,.,. dominant HG002 HG002 chr4:9729685:T:G 1,.,. 1.31449e-05 0 2 -1 -1 -1 28,.,. 0.642857,.,. dominant HG002 HG002 chr4:9940847:T:C 1,.,. 1.31353e-05 0 2 -1 -1 -1 SLC2A9 50_intron 38,.,. 0.526316,.,. SLC2A9/intron/;SLC2A9/non_coding/ 0.0000 0.7737 1.0220 5 Hypouricemia, renal, 2 0.000 dominant HG002 HG002 chr4:9946239:T:A 1,.,. -1 -1 -1 -1 -1 -1 SLC2A9 50_intron 40,.,. 0.55,.,. SLC2A9/intron/;SLC2A9/non_coding/ 0.0000 0.7737 1.0220 5 Hypouricemia, renal, 2 0.000 dominant HG002 HG002 chr4:9946240:ATCTTG:A 1,.,. -1 -1 -1 -1 -1 -1 SLC2A9 50_intron 40,.,. 0.55,.,. SLC2A9/intron/;SLC2A9/non_coding/ 0.0000 0.7737 1.0220 5 Hypouricemia, renal, 2 0.000 dominant HG002 HG002 chr4:9946246:T:C 1,.,. -1 -1 -1 -1 -1 -1 SLC2A9 50_intron 40,.,. 0.55,.,. SLC2A9/intron/;SLC2A9/non_coding/ 0.0000 0.7737 1.0220 5 Hypouricemia, renal, 2 0.000 dominant HG002 HG002 chr4:10124149:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr4:10139729:AGG:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.657895,.,. dominant HG002 HG002 chr4:10148544:T:C 1,.,. 6.57091e-06 0 1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr4:10172961:C:T 1,.,. 6.8621e-06 0 1 -1 -1 -1 32,.,. 0.65625,.,. dominant HG002 HG002 chr4:10236069:G:A 1,.,. 6.57177e-06 0 1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr4:10296436:G:A 1,.,. 1.3153e-05 0 2 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr4:10307791:G:A 1,.,. 1.31534e-05 0 2 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr4:10345228:C:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr4:10489045:TTCTA:T 1,.,. 1.81442e-05 0 1 -1 -1 -1 CLNK 36_3_prime_utr 25,.,. 0.2,.,. CLNK/3_prime_utr/ENST00000226951;CLNK/3_prime_utr/ENST00000515667 0.0000 0.9784 1.3080 7 recessive HG002 HG002 chr4:10489716:G:C 2,.,. -1 -1 -1 -1 -1 -1 CLNK 36_3_prime_utr 24,.,. 1,.,. CLNK/3_prime_utr/ENST00000226951;CLNK/3_prime_utr/ENST00000515667 0.0000 0.9784 1.3080 7 dominant HG002 HG002 chr4:10491969:A:G 1,.,. 6.57445e-06 0 1 -1 -1 -1 CLNK 50_intron 28,.,. 0.607143,.,. CLNK/intron/ 0.0000 0.9784 1.3080 7 dominant HG002 HG002 chr4:10644232:C:T 1,.,. -1 -1 -1 -1 -1 -1 CLNK 50_intron 36,.,. 0.388889,.,. CLNK/intron/ 0.0000 0.9784 1.3080 7 dominant HG002 HG002 chr4:10865578:C:G 1,.,. 2.62888e-05 0 4 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr4:10931071:G:GTGTATGTATATA 1,.,. 1.93506e-05 0 2 -1 -1 -1 36,.,. 0.694444,.,. dominant HG002 HG002 chr4:10970472:G:T 1,.,. -1 -1 -1 0.00140154 0 4 25,.,. 0.76,.,. dominant HG002 HG002 chr4:10993620:A:G 1,.,. 6.56935e-06 0 1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr4:11043793:T:A 1,.,. 2.62912e-05 0 4 -1 -1 -1 50,.,. 0.64,.,. dominant HG002 HG002 chr4:11540749:A:G 1,.,. 2.23799e-05 0 2 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr4:11647852:A:G 1,.,. 6.57333e-06 0 1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr4:11769801:G:GCT 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.395349,.,. dominant HG002 HG002 chr4:11769804:T:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.395349,.,. dominant HG002 HG002 chr4:11857556:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr4:11857557:AATAGGG:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr4:12109168:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr4:12109169:T:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. recessive HG002 HG002 chr4:12122019:C:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. dominant HG002 HG002 chr4:12305435:T:C 1,.,. 2.63352e-05 0 4 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr4:12609221:A:G 1,.,. 2.62843e-05 0 4 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr4:12616998:G:A 1,.,. 6.57013e-06 0 1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr4:12640191:GCGCT:G 1,.,. -1 -1 -1 -1 -1 -1 ECM1P2 53_non_coding 44,.,. 0.340909,.,. ECM1P2/non_coding/ dominant HG002 HG002 chr4:12640197:A:C 1,.,. -1 -1 -1 -1 -1 -1 ECM1P2 53_non_coding 44,.,. 0.340909,.,. ECM1P2/non_coding/ dominant HG002 HG002 chr4:12697116:C:A 1,.,. 2.63085e-05 0 4 -1 -1 -1 32,.,. 0.53125,.,. recessive HG002 HG002 chr4:12836285:GATT:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr4:12836290:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr4:12914565:G:C 1,.,. 6.57488e-06 0 1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr4:13019952:G:A 1,.,. 6.57315e-06 0 1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr4:13264508:A:ACTAAGTATTGACAATG 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.727273,.,. dominant HG002 HG002 chr4:13264511:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.727273,.,. recessive HG002 HG002 chr4:13737473:G:GGT 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr4:13737475:T:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr4:13796942:ATATTCTCCTCTCTT:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr4:13796958:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr4:14012944:G:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr4:14179519:C:A 1,.,. 6.57246e-06 0 1 -1 -1 -1 42,.,. 0.619048,.,. dominant HG002 HG002 chr4:14288998:C:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr4:14387387:A:G 1,.,. 6.57333e-06 0 1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr4:14401854:C:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr4:14520997:T:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.367347,.,. recessive HG002 HG002 chr4:14621424:A:ATAGTTTCTG 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr4:14621426:C:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr4:14648386:T:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr4:14715839:C:A 2,.,. -1 -1 -1 0.0175193 4 50 40,.,. 1,.,. dominant HG002 HG002 chr4:14837172:A:G 1,.,. -1 -1 -1 0.00140154 0 4 29,.,. 0.62069,.,. dominant HG002 HG002 chr4:15232379:T:C 1,.,. 1.3138e-05 0 2 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr4:15559437:T:G 1,.,. -1 -1 -1 -1 -1 -1 CC2D2A 50_intron 45,.,. 0.466667,.,. CC2D2A/intron/;CC2D2A/non_coding/ 0.0000 0.7265 0.8540 3 Retinitis pigmentosa 93;Joubert syndrome 9;Meckel syndrome, type 6;COACH syndrome 2 0.000 recessive HG002 HG002 chr4:15703631:G:GGT 2,.,. -1 -1 -1 -1 -1 -1 BST1 50_intron 34,.,. 1,.,. BST1/intron/ 0.0000 1.2716 1.6380 8 recessive HG002 HG002 chr4:15703633:G:T 2,.,. 0.00194611 1 248 0.00140154 0 4 BST1 50_intron 35,.,. 1,.,. BST1/intron/ 0.0000 1.2716 1.6380 8 dominant HG002 HG002 chr4:15782399:T:A 1,.,. -1 -1 -1 -1 -1 -1 CD38 50_intron 35,.,. 0.6,.,. CD38/intron/;CD38/non_coding/ 0.0000 0.8508 1.2920 7 dominant HG002 HG002 chr4:15925915:G:A 1,.,. 1.31303e-05 0 2 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chr4:16047680:A:T 1,.,. 6.57099e-06 0 1 -1 -1 -1 PROM1 50_intron 37,.,. 0.459459,.,. PROM1/intron/ 0.0000 0.9240 1.1040 6 Retinitis pigmentosa 41;Retinal macular dystrophy type 2;Cone-rod dystrophy 12;Stargardt disease 4 0.000 recessive HG002 HG002 chr4:16303399:G:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr4:16609551:G:A 1,.,. 2.62633e-05 0 4 -1 -1 -1 LDB2 50_intron 45,.,. 0.444444,.,. LDB2/intron/;LDB2/non_coding/ 0.9982 0.2491 0.4350 1 dominant HG002 HG002 chr4:16821386:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 LDB2 50_intron 48,.,. 0.291667,.,. LDB2/intron/;LDB2/non_coding/ 0.9982 0.2491 0.4350 1 dominant HG002 HG002 chr4:16922236:A:AAGGGAGGG 1,.,. 3.81461e-05 0 2 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr4:17228182:G:GGGATA 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr4:17228183:T:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr4:17410515:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr4:17410518:AATTGC:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr4:17492758:T:A 1,.,. 1.31416e-05 0 2 -1 -1 -1 QDPR 50_intron 34,.,. 0.529412,.,. QDPR/intron/ 0.0000 0.6944 0.9840 4 Dihydropteridine reductase deficiency 0.000 dominant HG002 HG002 chr4:17526364:A:G 1,.,. 1.31394e-05 0 2 -1 -1 -1 CLRN2 50_intron 27,.,. 0.592593,.,. CLRN2/intron/ 0.0000 0.7931 1.1900 6 Hearing loss, autosomal recessive 117 0.000 dominant HG002 HG002 chr4:18376995:A:G 1,.,. 2.63116e-05 0 4 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr4:18479555:G:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.575,.,. recessive HG002 HG002 chr4:18611789:G:A 2,.,. -1 -1 -1 0.0024527 0 7 24,.,. 1,.,. dominant HG002 HG002 chr4:18623326:A:AGTGTGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.555556,.,. dominant HG002 HG002 chr4:18644520:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.358974,.,. dominant HG002 HG002 chr4:18662092:A:T 1,.,. 2.40234e-05 0 1 -1 -1 -1 54,.,. 0.592593,.,. dominant HG002 HG002 chr4:18662093:AATTTGCAAAAT:A 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.566038,.,. dominant HG002 HG002 chr4:19230706:GTGTGTGTA:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr4:19410948:A:G 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.333333,.,. dominant HG002 HG002 chr4:19592151:AGAGAGAGG:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr4:19604434:A:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.581395,.,. dominant HG002 HG002 chr4:20917023:A:T 1,.,. 0.000142969 1 4 -1 -1 -1 KCNIP4 50_intron 35,.,. 0.485714,.,. KCNIP4/intron/ 0.2373 0.4328 0.8540 3 dominant HG002 HG002 chr4:21271765:G:C 1,.,. 6.57358e-06 0 1 -1 -1 -1 KCNIP4 50_intron 39,.,. 0.487179,.,. KCNIP4/intron/ 0.2373 0.4328 0.8540 3 dominant HG002 HG002 chr4:21373968:G:GCCTGT 1,.,. -1 -1 -1 -1 -1 -1 KCNIP4 50_intron 40,.,. 0.575,.,. KCNIP4/intron/ 0.2373 0.4328 0.8540 3 dominant HG002 HG002 chr4:21373969:T:A 1,.,. -1 -1 -1 -1 -1 -1 KCNIP4 50_intron 40,.,. 0.575,.,. KCNIP4/intron/ 0.2373 0.4328 0.8540 3 dominant HG002 HG002 chr4:21455825:A:T 1,.,. 1.68294e-05 0 1 -1 -1 -1 KCNIP4 50_intron 37,.,. 0.324324,.,. KCNIP4/intron/ 0.2373 0.4328 0.8540 3 dominant HG002 HG002 chr4:21593117:G:GTGTT 1,.,. -1 -1 -1 -1 -1 -1 KCNIP4 50_intron 36,.,. 0.444444,.,. KCNIP4/intron/ 0.2373 0.4328 0.8540 3 recessive HG002 HG002 chr4:22042130:AAG:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr4:22042133:A:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr4:22315442:T:TGATA 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. recessive HG002 HG002 chr4:22430813:T:G 2,.,. -1 -1 -1 -1 -1 -1 ADGRA3 50_intron 36,.,. 1,.,. ADGRA3/intron/;ADGRA3/non_coding/ 0.0000 0.4795 0.6070 2 dominant HG002 HG002 chr4:22624553:G:GTATATATATATA 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.310345,.,. dominant HG002 HG002 chr4:23199354:ATATATT:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr4:23259929:AAAGAT:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr4:23259936:G:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr4:23391771:G:A 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.418182,.,. dominant HG002 HG002 chr4:24481221:G:A 1,.,. 2.63054e-05 0 4 -1 -1 -1 27,.,. 0.296296,.,. dominant HG002 HG002 chr4:24521058:A:C 1,.,. 7.00673e-06 0 1 -1 -1 -1 DHX15 53_non_coding 30,.,. 0.366667,.,. DHX15/non_coding/ 1.0000 0.0829 0.1560 0 dominant HG002 HG002 chr4:24856164:C:T 1,.,. -1 -1 -1 -1 -1 -1 CCDC149 50_intron 40,.,. 0.55,.,. CCDC149/intron/;CCDC149/non_coding/ 0.0000 0.8522 1.1500 6 dominant HG002 HG002 chr4:24865162:A:G 1,.,. 1.31368e-05 0 2 -1 -1 -1 CCDC149 50_intron 32,.,. 0.53125,.,. CCDC149/intron/;CCDC149/non_coding/ 0.0000 0.8522 1.1500 6 dominant HG002 HG002 chr4:24903508:G:A 1,.,. 1.97125e-05 0 3 -1 -1 -1 CCDC149 50_intron 37,.,. 0.567568,.,. CCDC149/intron/;CCDC149/non_coding/ 0.0000 0.8522 1.1500 6 dominant HG002 HG002 chr4:24982825:G:A 1,.,. 1.97558e-05 0 3 -1 -1 -1 30,.,. 0.566667,.,. recessive HG002 HG002 chr4:25049983:G:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr4:25126224:G:A 1,.,. -1 -1 -1 -1 -1 -1 SEPSECS 50_intron 33,.,. 0.606061,.,. SEPSECS/intron/;SEPSECS/non_coding/ 0.0000 0.8118 1.0960 5 Pontocerebellar hypoplasia type 2D 0.000 dominant HG002 HG002 chr4:25260871:T:G 1,.,. -1 -1 -1 -1 -1 -1 PI4K2B 50_intron 17,.,. 0.764706,.,. PI4K2B/intron/ 0.0000 1.0024 1.4560 8 recessive HG002 HG002 chr4:25502789:A:T 2,.,. 9.59141e-05 0 2 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr4:25502791:G:GGAGGATCA 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chr4:25588114:C:A 1,.,. 1.13002e-05 0 1 -1 -1 -1 25,.,. 0.56,.,. dominant HG002 HG002 chr4:25591752:C:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.619048,.,. dominant HG002 HG002 chr4:25684100:C:T 1,.,. 2.0004e-05 0 3 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr4:25934852:T:C 1,.,. 1.31366e-05 0 2 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr4:26003812:C:T 1,.,. 1.97008e-05 0 3 -1 -1 -1 28,.,. 0.5,.,. dominant HG002 HG002 chr4:26069043:AG:A 1,.,. 1.3828e-05 0 2 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr4:26180577:T:C 1,.,. 1.31444e-05 0 2 -1 -1 -1 RBPJ 50_intron 37,.,. 0.486486,.,. RBPJ/intron/ 1.0000 0.1420 0.2670 0 Adams-Oliver syndrome 3 0.000 recessive HG002 HG002 chr4:26506593:CTGTTGTTGTTAGT:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr4:26506607:A:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr4:26506609:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr4:26515831:G:T 1,.,. 6.57151e-06 0 1 -1 -1 -1 47,.,. 0.404255,.,. recessive HG002 HG002 chr4:26526934:A:G 2,.,. 6.28852e-05 0 1 0.0231254 0 66 44,.,. 1,.,. dominant HG002 HG002 chr4:26698427:G:A 1,.,. -1 -1 -1 -1 -1 -1 TBC1D19 50_intron 44,.,. 0.522727,.,. TBC1D19/intron/;TBC1D19/non_coding/ 0.4320 0.3932 0.6670 2 dominant HG002 HG002 chr4:26931578:A:G 1,.,. 6.57281e-06 0 1 -1 -1 -1 STIM2 50_intron 57,.,. 0.508772,.,. STIM2/intron/ 0.9623 0.3570 0.5060 1 dominant HG002 HG002 chr4:26962598:GTGTA:G 1,.,. -1 -1 -1 -1 -1 -1 STIM2 50_intron 33,.,. 0.30303,.,. STIM2/intron/ 0.9623 0.3570 0.5060 1 recessive HG002 HG002 chr4:27354054:C:CCA 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr4:27354055:A:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr4:27559035:A:G 1,.,. 1.97156e-05 0 3 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr4:27596567:C:A 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.482759,.,. dominant HG002 HG002 chr4:27605950:T:C 1,.,. 6.57151e-06 0 1 -1 -1 -1 49,.,. 0.489796,.,. dominant HG002 HG002 chr4:27823128:A:G 1,.,. 1.3142e-05 0 2 -1 -1 -1 43,.,. 0.372093,.,. dominant HG002 HG002 chr4:27864250:T:C 1,.,. 6.57834e-06 0 1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr4:27960971:T:A 1,.,. 6.58111e-06 0 1 -1 -1 -1 56,.,. 0.5,.,. dominant HG002 HG002 chr4:28289138:AT:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr4:28397585:T:TTTG 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.309524,.,. dominant HG002 HG002 chr4:28397587:G:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr4:28499961:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr4:28691310:A:C 1,.,. 6.57142e-06 0 1 -1 -1 -1 28,.,. 0.714286,.,. dominant HG002 HG002 chr4:28755367:A:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr4:28834952:T:A 1,.,. 6.57609e-06 0 1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr4:28865418:C:G 1,.,. 6.57661e-06 0 1 -1 -1 -1 42,.,. 0.47619,.,. recessive HG002 HG002 chr4:28917805:T:C 2,.,. 0.000421526 0 6 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr4:28917807:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr4:28917808:T:G 2,.,. 4.24677e-05 0 6 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr4:29044399:TATACACACAC:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. dominant HG002 HG002 chr4:29130370:T:G 1,.,. 6.5754e-06 0 1 -1 -1 -1 52,.,. 0.519231,.,. dominant HG002 HG002 chr4:29300894:GTTC:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.55102,.,. dominant HG002 HG002 chr4:29300898:A:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.55102,.,. dominant HG002 HG002 chr4:29300900:C:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.55102,.,. dominant HG002 HG002 chr4:29409240:G:C 1,.,. 6.58085e-06 0 1 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr4:29649796:A:G 1,.,. 5.13119e-05 0 3 -1 -1 -1 46,.,. 0.413043,.,. dominant HG002 HG002 chr4:29671236:A:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr4:29733014:T:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.375,.,. dominant HG002 HG002 chr4:29733016:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.375,.,. dominant HG002 HG002 chr4:29949098:A:G 1,.,. 1.97176e-05 0 3 -1 -1 -1 56,.,. 0.535714,.,. dominant HG002 HG002 chr4:30058824:T:TAC 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.322581,.,. dominant HG002 HG002 chr4:30566296:A:G 1,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.42623,.,. dominant HG002 HG002 chr4:30566297:A:G 1,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.42623,.,. dominant HG002 HG002 chr4:30566298:CTGCTTCAGCGCCA:C 1,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.42623,.,. dominant HG002 HG002 chr4:30687905:A:G 1,.,. 1.31409e-05 0 2 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr4:31106021:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 PCDH7 50_intron 32,.,. 0.375,.,. PCDH7/intron/ 0.9982 0.2998 0.4550 1 recessive HG002 HG002 chr4:31200756:G:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr4:31200757:A:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr4:31439824:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr4:31453320:T:G 2,.,. 0.000877083 0 14 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr4:31778120:TGTGTGTGTGC:T 1,.,. 9.73558e-06 0 1 -1 -1 -1 33,.,. 0.333333,.,. dominant HG002 HG002 chr4:31960031:T:TCTTCCTTCCTTC 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr4:32181363:CCCT:C 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.490909,.,. dominant HG002 HG002 chr4:32367857:C:CTAA 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr4:32367861:A:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.606061,.,. recessive HG002 HG002 chr4:32399788:A:G 2,.,. 0.00193044 1 251 0.00700771 1 20 39,.,. 1,.,. dominant HG002 HG002 chr4:32703653:GGTGA:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr4:32703660:G:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.611111,.,. dominant HG002 HG002 chr4:32703662:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr4:32832394:T:TATATATAATATATAATATAAGAATATATATTATATATTATATATTATGTATAATATATATAATATATAATATATAATATATAAATATATATTATACATAATATATATAATATATAAA 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.47619,.,. recessive HG002 HG002 chr4:33317465:T:TTTCACTGGGGAC 2,.,. 0.000593472 0 2 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr4:33317468:A:G 2,.,. 0.00184749 3 281 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr4:33673717:C:T 1,.,. 1.97301e-05 0 3 -1 -1 -1 51,.,. 0.470588,.,. dominant HG002 HG002 chr4:34322373:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr4:34758759:G:T 1,.,. 1.31683e-05 0 2 -1 -1 -1 56,.,. 0.5,.,. dominant HG002 HG002 chr4:34903417:G:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr4:34919527:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.52,.,. dominant HG002 HG002 chr4:34927190:T:C 1,.,. 3.18822e-05 0 4 -1 -1 -1 48,.,. 0.5625,.,. dominant HG002 HG002 chr4:34961196:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr4:35044218:GGAATGGCA:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr4:35044227:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. recessive HG002 HG002 chr4:35353923:T:TTTAA 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.982143,.,. recessive HG002 HG002 chr4:35353925:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr4:35457654:A:G 2,.,. 0.00432125 0 591 0.00350385 0 10 40,.,. 1,.,. recessive HG002 HG002 chr4:35468054:T:G 2,.,. 0.000347293 0 48 0.000700771 0 2 51,.,. 0.980392,.,. recessive HG002 HG002 chr4:35484139:C:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr4:35550656:T:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr4:35550657:A:ATACT 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr4:35755313:T:G 1,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.484848,.,. dominant HG002 HG002 chr4:35771122:AGTTTTTTTTTTT:A 1,.,. 4.6032e-05 0 1 -1 -1 -1 53,.,. 0.415094,.,. dominant HG002 HG002 chr4:36003810:T:A 1,.,. -1 -1 -1 -1 -1 -1 ARAP2 53_non_coding 53,.,. 0.528302,.,. ARAP2/non_coding/ 0.0000 0.7522 0.8840 4 dominant HG002 HG002 chr4:36471497:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr4:37057340:G:A 1,.,. 2.62968e-05 0 4 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr4:37148749:T:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr4:37325460:A:G 1,.,. 1.97135e-05 0 3 -1 -1 -1 NWD2 50_intron 48,.,. 0.354167,.,. NWD2/intron/ 1.0000 0.2352 0.3230 0 dominant HG002 HG002 chr4:37564503:T:TTTTA 1,.,. -1 -1 -1 -1 -1 -1 C4orf19 50_intron 42,.,. 0.52381,.,. C4orf19/intron/ 0.2855 0.4262 1.6600 8 dominant HG002 HG002 chr4:37887707:G:C 1,.,. 1.31439e-05 0 2 -1 -1 -1 27,.,. 0.296296,.,. dominant HG002 HG002 chr4:37948773:G:A 1,.,. 1.31551e-05 0 2 -1 -1 -1 TBC1D1 50_intron 37,.,. 0.486486,.,. TBC1D1/intron/ 0.0000 0.7160 0.8590 3 dominant HG002 HG002 chr4:38214512:GAGT:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr4:38214517:T:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr4:38383026:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr4:38383028:A:AAGTGTGG 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.384615,.,. dominant HG002 HG002 chr4:38412901:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr4:38725263:A:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr4:39043902:G:A 1,.,. 1.31475e-05 0 2 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr4:39619726:A:AATTT 1,.,. -1 -1 -1 -1 -1 -1 SMIM14 50_intron 24,.,. 0.625,.,. SMIM14/intron/;SMIM14/non_coding/ 0.0779 0.7140 1.6710 8 dominant HG002 HG002 chr4:39916203:AAC:A 1,.,. -1 -1 -1 0.00105116 0 3 PDS5A 50_intron 30,.,. 0.533333,.,. PDS5A/intron/ 0.9600 0.3273 0.5200 1 dominant HG002 HG002 chr4:40005904:A:G 1,.,. 6.57039e-06 0 1 -1 -1 -1 22,.,. 0.545455,.,. dominant HG002 HG002 chr4:40246448:TTGG:T 1,.,. 6.60005e-06 0 1 -1 -1 -1 RHOH 36_3_prime_utr 28,.,. 0.5,.,. RHOH/3_prime_utr/ENST00000381799 0.2549 0.4270 0.8430 3 Epidermodysplasia verruciformis, susceptibility to, 4 0.000 dominant HG002 HG002 chr4:40246452:C:G 1,.,. -1 -1 -1 -1 -1 -1 RHOH 36_3_prime_utr 29,.,. 0.482759,.,. RHOH/3_prime_utr/ENST00000381799 0.2549 0.4270 0.8430 3 Epidermodysplasia verruciformis, susceptibility to, 4 0.000 dominant HG002 HG002 chr4:40366296:C:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr4:40436175:A:AAAC 1,.,. -1 -1 -1 -1 -1 -1 RBM47 50_intron 26,.,. 0.461538,.,. RBM47/intron/;RBM47/non_coding/ 0.0345 0.4558 0.6620 2 dominant HG002 HG002 chr4:40445158:C:CAGCT 1,.,. -1 -1 -1 -1 -1 -1 RBM47 50_intron 33,.,. 0.454545,.,. RBM47/intron/;RBM47/non_coding/ 0.0345 0.4558 0.6620 2 dominant HG002 HG002 chr4:40711566:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.394737,.,. dominant HG002 HG002 chr4:40711567:C:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr4:40843441:TTTTTATAAA:T 1,.,. -1 -1 -1 -1 -1 -1 APBB2 50_intron 32,.,. 0.59375,.,. APBB2/intron/;APBB2/non_coding/ 0.6062 0.3939 0.5400 1 dominant HG002 HG002 chr4:40843452:C:A 1,.,. -1 -1 -1 -1 -1 -1 APBB2 50_intron 33,.,. 0.575758,.,. APBB2/intron/;APBB2/non_coding/ 0.6062 0.3939 0.5400 1 dominant HG002 HG002 chr4:40990285:T:TTC 1,.,. 3.503e-05 0 2 -1 -1 -1 APBB2 50_intron 43,.,. 0.511628,.,. APBB2/intron/;APBB2/non_coding/ 0.6062 0.3939 0.5400 1 dominant HG002 HG002 chr4:41534354:A:G 1,.,. -1 -1 -1 -1 -1 -1 LIMCH1 50_intron 45,.,. 0.422222,.,. LIMCH1/intron/;LIMCH1/non_coding/ 0.0000 0.6443 0.7680 3 dominant HG002 HG002 chr4:41914535:C:T 1,.,. 1.98794e-05 0 3 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr4:41986695:G:C 1,.,. 6.63121e-06 0 1 -1 -1 -1 39,.,. 0.589744,.,. dominant HG002 HG002 chr4:42301839:C:CGA 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr4:42301840:A:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr4:42638325:G:T 1,.,. -1 -1 -1 -1 -1 -1 ATP8A1 50_intron 45,.,. 0.444444,.,. ATP8A1/intron/ 0.0000 0.5312 0.6610 2 dominant HG002 HG002 chr4:42834781:C:T 1,.,. 6.54322e-05 0 4 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr4:42866440:T:TAAG 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr4:42891167:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.59322,.,. recessive HG002 HG002 chr4:43428662:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr4:43428663:G:A 2,.,. 6.59648e-06 0 1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr4:43770581:A:AG 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr4:43770582:A:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr4:43770588:C:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr4:43770589:C:CAGATAAGTAAGAAAT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr4:43770590:T:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr4:44161849:G:A 1,.,. 2.63106e-05 0 4 -1 -1 -1 40,.,. 0.65,.,. dominant HG002 HG002 chr4:44210010:T:C 1,.,. 6.57341e-06 0 1 -1 -1 -1 KCTD8 50_intron 39,.,. 0.461538,.,. KCTD8/intron/ 0.0000 0.8530 1.2000 6 dominant HG002 HG002 chr4:44337866:T:C 1,.,. 6.58155e-06 0 1 -1 -1 -1 KCTD8 50_intron 53,.,. 0.566038,.,. KCTD8/intron/ 0.0000 0.8530 1.2000 6 dominant HG002 HG002 chr4:44496555:T:C 1,.,. -1 -1 -1 0.00105116 0 3 38,.,. 0.526316,.,. recessive HG002 HG002 chr4:44589660:G:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.980769,.,. dominant HG002 HG002 chr4:44771400:T:C 1,.,. 6.57073e-06 0 1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr4:44781897:A:G 1,.,. 1.33355e-05 0 2 -1 -1 -1 28,.,. 0.428571,.,. dominant HG002 HG002 chr4:44795164:A:G 1,.,. 1.32008e-05 0 2 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr4:44808056:T:C 1,.,. 6.57618e-06 0 1 -1 -1 -1 46,.,. 0.391304,.,. recessive HG002 HG002 chr4:44876927:A:AGATGAAT 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr4:44876928:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr4:44912214:G:T 1,.,. 0.000114408 0 3 -1 -1 -1 32,.,. 0.375,.,. dominant HG002 HG002 chr4:44973607:T:A 1,.,. 6.57748e-06 0 1 -1 -1 -1 50,.,. 0.56,.,. dominant HG002 HG002 chr4:45011848:C:A 1,.,. 6.57609e-06 0 1 -1 -1 -1 53,.,. 0.622642,.,. dominant HG002 HG002 chr4:45212100:T:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr4:45212140:CACACATATATATATACACATATATAT:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr4:45411558:A:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr4:45940249:A:G 1,.,. 1.47501e-05 0 1 -1 -1 -1 42,.,. 0.380952,.,. dominant HG002 HG002 chr4:46272289:T:G 1,.,. -1 -1 -1 -1 -1 -1 GABRA2 50_intron 43,.,. 0.418605,.,. GABRA2/intron/ 0.9838 0.2610 0.4900 1 Alcohol dependence;Developmental and epileptic encephalopathy, 78 0.000 dominant HG002 HG002 chr4:46348600:A:C 1,.,. 1.97314e-05 0 3 -1 -1 -1 GABRA2 50_intron 50,.,. 0.56,.,. GABRA2/intron/ 0.9838 0.2610 0.4900 1 Alcohol dependence;Developmental and epileptic encephalopathy, 78 0.000 dominant HG002 HG002 chr4:46758264:TGAGGTATA:T 1,.,. -1 -1 -1 -1 -1 -1 COX7B2 50_intron 44,.,. 0.659091,.,. COX7B2/intron/ 0.1240 0.7142 1.7700 8 dominant HG002 HG002 chr4:46758274:A:T 1,.,. -1 -1 -1 -1 -1 -1 COX7B2 50_intron 44,.,. 0.681818,.,. COX7B2/intron/ 0.1240 0.7142 1.7700 8 dominant HG002 HG002 chr4:46758275:G:T 1,.,. -1 -1 -1 -1 -1 -1 COX7B2 50_intron 43,.,. 0.674419,.,. COX7B2/intron/ 0.1240 0.7142 1.7700 8 dominant HG002 HG002 chr4:46892895:C:G 1,.,. 1.31425e-05 0 2 -1 -1 -1 COX7B2 50_intron 52,.,. 0.5,.,. COX7B2/intron/ 0.1240 0.7142 1.7700 8 dominant HG002 HG002 chr4:47599448:C:A 1,.,. -1 -1 -1 -1 -1 -1 CORIN 50_intron 39,.,. 0.410256,.,. CORIN/intron/ 0.0000 0.8704 1.0420 5 Cardiomyopathy, familial hypertrophic, 30, atrial;Preeclampsia/eclampsia 5 0.000 dominant HG002 HG002 chr4:47599449:A:AAGCAGTAAAAT 1,.,. -1 -1 -1 -1 -1 -1 CORIN 50_intron 40,.,. 0.4,.,. CORIN/intron/ 0.0000 0.8704 1.0420 5 Cardiomyopathy, familial hypertrophic, 30, atrial;Preeclampsia/eclampsia 5 0.000 dominant HG002 HG002 chr4:47599451:T:A 1,.,. -1 -1 -1 -1 -1 -1 CORIN 50_intron 39,.,. 0.410256,.,. CORIN/intron/ 0.0000 0.8704 1.0420 5 Cardiomyopathy, familial hypertrophic, 30, atrial;Preeclampsia/eclampsia 5 0.000 dominant HG002 HG002 chr4:49091686:G:C 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.73913,.,. recessive HG002 HG002 chr4:49093148:C:T 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr4:49107097:A:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr4:49113001:A:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr4:49121982:A:C 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 0.988764,.,. recessive HG002 HG002 chr4:49131222:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr4:49132090:G:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr4:49135346:A:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. recessive HG002 HG002 chr4:49135787:A:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr4:49140157:C:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr4:49141098:G:A 2,.,. 0.0210433 1 1913 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr4:49143771:G:T 2,.,. -1 -1 -1 -1 -1 -1 114,.,. 0.991228,.,. dominant HG002 HG002 chr4:49152812:G:T 1,.,. -1 -1 -1 -1 -1 -1 126,.,. 0.380952,.,. dominant HG002 HG002 chr4:49155102:G:A 1,.,. -1 -1 -1 -1 -1 -1 131,.,. 0.770992,.,. dominant HG002 HG002 chr4:49155533:G:T 1,.,. -1 -1 -1 -1 -1 -1 95,.,. 0.326316,.,. dominant HG002 HG002 chr4:49594422:G:A 1,.,. -1 -1 -1 0.000700771 0 2 28,.,. 0.428571,.,. dominant HG002 HG002 chr4:49643071:A:G 1,.,. -1 -1 -1 -1 -1 -1 72,.,. 0.222222,.,. dominant HG002 HG002 chr4:49644539:G:A 1,.,. -1 -1 -1 -1 -1 -1 62,.,. 0.354839,.,. dominant HG002 HG002 chr4:49965159:T:G 1,.,. -1 -1 -1 -1 -1 -1 306,.,. 0.24183,.,. dominant HG002 HG002 chr4:49966350:A:C 1,.,. -1 -1 -1 -1 -1 -1 315,.,. 0.269841,.,. recessive HG002 HG002 chr4:50041197:C:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr4:50048835:T:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr4:50049137:C:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr4:50078948:A:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr4:50113810:G:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr4:50144522:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr4:50323847:CTAGG:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr4:50323854:C:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chr4:50356588:A:C 1,.,. -1 -1 -1 -1 -1 -1 518,.,. 0.266409,.,. recessive HG002 HG002 chr4:50378438:GT:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr4:50385001:C:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr4:50394478:G:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr4:50419710:C:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr4:50419721:T:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr4:50419958:C:G 2,.,. -1 -1 -1 0.00280308 4 8 6,.,. 1,.,. recessive HG002 HG002 chr4:50420033:T:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr4:50453381:A:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr4:50474483:GTA:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr4:50474488:G:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr4:50558106:G:A 2,.,. -1 -1 -1 0.0143658 3 41 29,.,. 1,.,. recessive HG002 HG002 chr4:50687935:C:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr4:50707108:T:C 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr4:50707109:T:G 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr4:50750454:T:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr4:50750794:A:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr4:50757432:T:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr4:50757439:A:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr4:50772359:A:G 2,.,. -1 -1 -1 0.0024527 2 7 10,.,. 1,.,. recessive HG002 HG002 chr4:51125481:A:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr4:51187597:A:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr4:51199830:T:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr4:51404672:G:C 2,.,. -1 -1 -1 0.00280308 4 8 20,.,. 1,.,. recessive HG002 HG002 chr4:51405104:T:G 2,.,. -1 -1 -1 0.00140154 2 4 20,.,. 1,.,. recessive HG002 HG002 chr4:51405341:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr4:51405348:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr4:51405357:G:C 2,.,. -1 -1 -1 0.00140154 2 4 19,.,. 1,.,. recessive HG002 HG002 chr4:51405399:T:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr4:51405531:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr4:51405565:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr4:51405621:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr4:51405636:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr4:51405811:T:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr4:51406099:C:T 2,.,. -1 -1 -1 0.0024527 3 7 19,.,. 1,.,. recessive HG002 HG002 chr4:51406288:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr4:51406298:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr4:51406379:A:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr4:51406384:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr4:51406441:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr4:51406557:T:G 2,.,. -1 -1 -1 0.0049054 3 14 19,.,. 1,.,. recessive HG002 HG002 chr4:51406592:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr4:51406738:C:G 2,.,. -1 -1 -1 0.00140154 2 4 19,.,. 1,.,. recessive HG002 HG002 chr4:51406754:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr4:51407802:A:T 2,.,. -1 -1 -1 0.00140154 2 4 20,.,. 1,.,. recessive HG002 HG002 chr4:51407818:C:T 2,.,. -1 -1 -1 0.0024527 3 7 20,.,. 1,.,. recessive HG002 HG002 chr4:51409271:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr4:51409379:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr4:51409512:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr4:51409531:A:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr4:51409540:C:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr4:51409554:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr4:51409601:C:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr4:51409612:A:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr4:51409993:A:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr4:51410019:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr4:51410130:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr4:51410172:T:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr4:51410229:G:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr4:51410275:A:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr4:51410386:A:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr4:51410403:G:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr4:51410449:T:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr4:51410516:A:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr4:51410520:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr4:51410553:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr4:51410601:T:A 2,.,. -1 -1 -1 0.0024527 3 7 17,.,. 1,.,. recessive HG002 HG002 chr4:51410718:T:A 2,.,. -1 -1 -1 0.00175193 0 5 17,.,. 1,.,. recessive HG002 HG002 chr4:51410725:A:AT 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr4:51410795:T:A 2,.,. -1 -1 -1 0.00560617 1 16 17,.,. 1,.,. recessive HG002 HG002 chr4:51410983:G:C 2,.,. -1 -1 -1 0.00455501 4 13 16,.,. 1,.,. recessive HG002 HG002 chr4:51411132:G:C 2,.,. -1 -1 -1 0.00420463 2 12 15,.,. 1,.,. recessive HG002 HG002 chr4:51411235:A:G 2,.,. -1 -1 -1 0.00280308 3 8 15,.,. 1,.,. recessive HG002 HG002 chr4:51411315:G:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr4:51411372:C:A 2,.,. -1 -1 -1 0.0049054 2 14 15,.,. 1,.,. recessive HG002 HG002 chr4:51411656:T:C 2,.,. -1 -1 -1 0.00315347 4 9 14,.,. 1,.,. recessive HG002 HG002 chr4:51411824:G:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr4:51411830:G:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr4:51411910:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr4:51412242:G:C 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr4:51412386:A:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr4:51412690:A:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr4:51412793:G:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr4:51412850:C:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr4:51413067:A:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr4:51413532:G:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr4:51413570:A:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr4:51413767:G:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr4:51414030:C:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr4:51414205:T:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr4:51415809:G:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr4:51416671:G:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr4:51417071:G:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. dominant HG002 HG002 chr4:52190315:CTAGTTAAGAGACA:C 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.46,.,. dominant HG002 HG002 chr4:52190329:T:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.46,.,. recessive HG002 HG002 chr4:52258625:A:G 2,.,. 0.000158203 0 2 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr4:52317329:T:TGTGTGTGC 1,.,. 2.84625e-05 0 1 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr4:52317331:T:TGTGTGTGC 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.431818,.,. recessive HG002 HG002 chr4:52317335:C:T 2,.,. 0.000238524 0 36 -1 -1 -1 45,.,. 1,.,. dominant HG002 HG002 chr4:52394333:AT:A 1,.,. -1 -1 -1 0.000700771 0 2 43,.,. 0.534884,.,. dominant HG002 HG002 chr4:52423323:T:TTTA 1,.,. 7.18856e-06 0 1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr4:52500002:AC:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr4:52954698:C:T 1,.,. 1.97143e-05 0 3 -1 -1 -1 SCFD2 50_intron 42,.,. 0.357143,.,. SCFD2/intron/ 0.0000 0.9358 1.1820 6 dominant HG002 HG002 chr4:52995431:C:T 1,.,. 1.96959e-05 0 3 -1 -1 -1 SCFD2 50_intron 28,.,. 0.464286,.,. SCFD2/intron/ 0.0000 0.9358 1.1820 6 dominant HG002 HG002 chr4:53072805:T:TAGTAAACTCCCTAGTA 1,.,. -1 -1 -1 -1 -1 -1 SCFD2 50_intron 43,.,. 0.418605,.,. SCFD2/intron/ 0.0000 0.9358 1.1820 6 dominant HG002 HG002 chr4:53072806:T:A 1,.,. -1 -1 -1 -1 -1 -1 SCFD2 50_intron 44,.,. 0.431818,.,. SCFD2/intron/ 0.0000 0.9358 1.1820 6 dominant HG002 HG002 chr4:53072807:T:A 1,.,. -1 -1 -1 -1 -1 -1 SCFD2 50_intron 44,.,. 0.431818,.,. SCFD2/intron/ 0.0000 0.9358 1.1820 6 dominant HG002 HG002 chr4:53072809:A:T 1,.,. 6.58675e-06 0 1 -1 -1 -1 SCFD2 50_intron 44,.,. 0.431818,.,. SCFD2/intron/ 0.0000 0.9358 1.1820 6 dominant HG002 HG002 chr4:53238445:AGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGTGGGGC:A 1,.,. -1 -1 -1 0.000700771 0 2 SCFD2 50_intron 30,.,. 0.333333,.,. SCFD2/intron/ 0.0000 0.9358 1.1820 6 dominant HG002 HG002 chr4:53393776:C:A 1,.,. -1 -1 -1 -1 -1 -1 FIP1L1 50_intron 28,.,. 0.5,.,. FIP1L1/intron/;FIP1L1/non_coding/ 1.0000 0.2286 0.3780 0 0.000 recessive HG002 HG002 chr4:53431633:C:T 2,.,. 0.00333333 0 1 -1 -1 -1 FIP1L1 50_intron 32,.,. 1,.,. FIP1L1/intron/;FIP1L1/non_coding/ 1.0000 0.2286 0.3780 0 0.000 dominant HG002 HG002 chr4:53465562:C:A 1,.,. -1 -1 -1 -1 -1 -1 AC058822.1 50_intron 27,.,. 0.333333,.,. AC058822.1/intron/ recessive HG002 HG002 chr4:53512233:G:GCAAAAATCTA 2,.,. -1 -1 -1 -1 -1 -1 AC058822.1 50_intron 32,.,. 1,.,. AC058822.1/intron/ recessive HG002 HG002 chr4:53512234:T:G 2,.,. -1 -1 -1 -1 -1 -1 AC058822.1 50_intron 32,.,. 1,.,. AC058822.1/intron/ dominant HG002 HG002 chr4:53601091:AAGGG:A 1,.,. 3.13939e-05 0 3 -1 -1 -1 AC058822.1;LNX1 50_intron 34,.,. 0.352941,.,. AC058822.1/intron/;LNX1/non_coding/ 0.0000 0.7442 0.9380 4 dominant HG002 HG002 chr4:53601104:A:G 1,.,. -1 -1 -1 0.00105116 0 3 AC058822.1;LNX1 50_intron 34,.,. 0.5,.,. AC058822.1/intron/;LNX1/non_coding/ 0.0000 0.7442 0.9380 4 dominant HG002 HG002 chr4:53799455:C:G 1,.,. -1 -1 -1 -1 -1 -1 AC058822.1 50_intron 41,.,. 0.512195,.,. AC058822.1/intron/ dominant HG002 HG002 chr4:53808553:AATGG:A 1,.,. -1 -1 -1 -1 -1 -1 AC058822.1 50_intron 41,.,. 0.390244,.,. AC058822.1/intron/ dominant HG002 HG002 chr4:53808559:G:A 1,.,. -1 -1 -1 -1 -1 -1 AC058822.1 50_intron 39,.,. 0.384615,.,. AC058822.1/intron/ dominant HG002 HG002 chr4:53847482:A:G 1,.,. -1 -1 -1 -1 -1 -1 AC058822.1 50_intron 39,.,. 0.358974,.,. AC058822.1/intron/ dominant HG002 HG002 chr4:54133278:G:GAGAA 1,.,. -1 -1 -1 -1 -1 -1 AC058822.1 50_intron 21,.,. 0.714286,.,. AC058822.1/intron/ dominant HG002 HG002 chr4:54133278:G:GAGAAAGAA 1,.,. -1 -1 -1 -1 -1 -1 AC058822.1 50_intron 21,.,. 0.714286,.,. AC058822.1/intron/ recessive HG002 HG002 chr4:54169935:CTGTCTT:C 2,.,. -1 -1 -1 -1 -1 -1 AC058822.1 50_intron 14,.,. 1,.,. AC058822.1/intron/ recessive HG002 HG002 chr4:54169942:G:C 2,.,. -1 -1 -1 -1 -1 -1 AC058822.1 50_intron 14,.,. 1,.,. AC058822.1/intron/ recessive HG002 HG002 chr4:54460522:G:GTGATCTTTT 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr4:54460524:T:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr4:54460526:A:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr4:54466639:TTCCTTTTATCC:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:54466651:G:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr4:54477896:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr4:54477897:GTTCAAGCAATTCT:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr4:55047967:A:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr4:55160937:A:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.634146,.,. dominant HG002 HG002 chr4:55160938:T:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.634146,.,. dominant HG002 HG002 chr4:55160940:G:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.634146,.,. dominant HG002 HG002 chr4:55280210:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.594595,.,. recessive HG002 HG002 chr4:55402399:GTGTGTATATATA:G 2,.,. -1 -1 -1 0.00981079 1 28 TMEM165 50_intron 33,.,. 1,.,. TMEM165/intron/;TMEM165/non_coding/ 0.0001 0.7054 1.0710 5 TMEM165-congenital disorder of glycosylation 0.000 recessive HG002 HG002 chr4:55542376:A:T 2,.,. -1 -1 -1 -1 -1 -1 CLOCK 50_intron 45,.,. 1,.,. CLOCK/intron/;CLOCK/non_coding/ 0.9683 0.3659 0.4960 1 recessive HG002 HG002 chr4:55542379:A:T 2,.,. -1 -1 -1 -1 -1 -1 CLOCK 50_intron 45,.,. 1,.,. CLOCK/intron/;CLOCK/non_coding/ 0.9683 0.3659 0.4960 1 recessive HG002 HG002 chr4:55623574:G:A 2,.,. -1 -1 -1 0.0178697 0 51 NMU 50_intron 50,.,. 1,.,. NMU/intron/;NMU/non_coding/ 0.1017 0.5634 1.2830 7 dominant HG002 HG002 chr4:55800283:T:G 1,.,. 2.62871e-05 0 4 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr4:56264457:ACATATGCCAT:A 1,.,. -1 -1 -1 -1 -1 -1 CRACD 50_intron 37,.,. 0.405405,.,. CRACD/intron/ 0.0000 0.5689 0.7120 2 dominant HG002 HG002 chr4:56294658:A:T 1,.,. -1 -1 -1 -1 -1 -1 CRACD 50_intron 43,.,. 0.511628,.,. CRACD/intron/ 0.0000 0.5689 0.7120 2 dominant HG002 HG002 chr4:56358669:T:C 1,.,. 1.31491e-05 0 2 -1 -1 -1 AASDH 50_intron 48,.,. 0.458333,.,. AASDH/intron/;AASDH/non_coding/ 0.0000 0.7731 0.9460 4 dominant HG002 HG002 chr4:56358940:T:C 1,.,. 1.31368e-05 0 2 -1 -1 -1 AASDH 50_intron 48,.,. 0.458333,.,. AASDH/intron/;AASDH/non_coding/ 0.0000 0.7731 0.9460 4 dominant HG002 HG002 chr4:56607143:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. dominant HG002 HG002 chr4:56784337:C:A 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.608696,.,. dominant HG002 HG002 chr4:56785950:G:A 1,.,. 6.57428e-06 0 1 -1 -1 -1 24,.,. 0.375,.,. dominant HG002 HG002 chr4:56843882:A:G 1,.,. 6.57774e-06 0 1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr4:56854781:A:C 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.5,.,. dominant HG002 HG002 chr4:56870687:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr4:56996366:C:T 1,.,. 2.71113e-05 0 4 -1 -1 -1 POLR2B 50_intron 31,.,. 0.483871,.,. POLR2B/intron/ 0.2449 0.4122 0.5680 1 recessive HG002 HG002 chr4:57426897:T:G 2,.,. 0.000651696 1 96 0.00105116 0 3 43,.,. 1,.,. recessive HG002 HG002 chr4:57442082:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr4:57647324:T:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr4:57670934:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr4:57671112:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. recessive HG002 HG002 chr4:57706202:G:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr4:57787005:GAATGTA:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr4:57787012:A:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr4:57792042:CTCTTTT:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr4:58021101:A:G 1,.,. 1.90949e-05 1 2 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr4:58034006:A:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr4:58071745:TATAC:T 1,.,. 2.03851e-05 0 3 -1 -1 -1 50,.,. 0.54,.,. dominant HG002 HG002 chr4:58091948:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.297872,.,. dominant HG002 HG002 chr4:58091951:T:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.291667,.,. dominant HG002 HG002 chr4:58097136:CGATAAA:C 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.425926,.,. dominant HG002 HG002 chr4:58097143:G:T 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.425926,.,. dominant HG002 HG002 chr4:58222750:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr4:58289816:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.490909,.,. dominant HG002 HG002 chr4:58398376:T:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr4:58408711:A:T 1,.,. 2.62916e-05 0 4 -1 -1 -1 38,.,. 0.368421,.,. dominant HG002 HG002 chr4:58420215:T:C 1,.,. 2.63824e-05 0 4 -1 -1 -1 60,.,. 0.65,.,. dominant HG002 HG002 chr4:58464343:AAC:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.361111,.,. dominant HG002 HG002 chr4:58489428:CTATTAA:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr4:58489437:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr4:58750514:G:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.428571,.,. dominant HG002 HG002 chr4:58992087:A:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr4:59194271:T:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr4:59204610:G:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. recessive HG002 HG002 chr4:59477762:T:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr4:59740754:A:G 1,.,. 7.22084e-06 0 1 -1 -1 -1 61,.,. 0.52459,.,. dominant HG002 HG002 chr4:59991462:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr4:60151605:T:A 1,.,. 2.63064e-05 0 4 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr4:60299444:G:A 1,.,. 2.6293e-05 0 4 -1 -1 -1 55,.,. 0.636364,.,. dominant HG002 HG002 chr4:60338300:T:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.354167,.,. dominant HG002 HG002 chr4:60459694:T:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.404762,.,. recessive HG002 HG002 chr4:60699298:C:A 2,.,. 0.00662252 0 2 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr4:60699299:T:C 2,.,. 1.3143e-05 0 2 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr4:60699300:A:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr4:60702829:A:AGAAGT 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr4:60803195:T:C 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.490196,.,. dominant HG002 HG002 chr4:61021953:C:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.372093,.,. dominant HG002 HG002 chr4:61051879:C:T 1,.,. 2.62895e-05 0 4 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr4:61142984:G:T 1,.,. 1.31511e-05 0 2 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr4:61359196:C:T 1,.,. 6.57678e-06 0 1 -1 -1 -1 ADGRL3 50_intron 37,.,. 0.378378,.,. ADGRL3/intron/;ADGRL3/non_coding/ 0.9996 0.3416 0.4510 1 dominant HG002 HG002 chr4:61417502:A:G 1,.,. 6.61148e-06 0 1 -1 -1 -1 ADGRL3 50_intron 30,.,. 0.5,.,. ADGRL3/intron/ 0.9996 0.3416 0.4510 1 dominant HG002 HG002 chr4:61838715:A:G 1,.,. 6.57056e-06 0 1 -1 -1 -1 ADGRL3 50_intron 38,.,. 0.473684,.,. ADGRL3/intron/ 0.9996 0.3416 0.4510 1 dominant HG002 HG002 chr4:62206966:TTTC:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr4:62206972:C:T 1,.,. 7.03641e-06 0 1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr4:62214666:AGAG:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.690476,.,. dominant HG002 HG002 chr4:62425251:TATCTATCTATCC:T 1,.,. 1.11331e-05 0 1 -1 -1 -1 34,.,. 0.470588,.,. recessive HG002 HG002 chr4:62534618:T:TAG 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr4:62534621:A:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. dominant HG002 HG002 chr4:62892196:T:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.395833,.,. recessive HG002 HG002 chr4:62904647:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr4:62904648:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr4:62904649:TTAGGTAGCACAGTGA:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr4:63057988:C:G 2,.,. 1.97905e-05 0 3 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr4:63455840:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.469388,.,. recessive HG002 HG002 chr4:63656312:G:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr4:64017180:T:TACAA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr4:64017181:C:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr4:64076632:T:A 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.272727,.,. dominant HG002 HG002 chr4:64215210:G:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. recessive HG002 HG002 chr4:64316006:C:CAGATA 2,.,. -1 -1 -1 -1 -1 -1 TECRL 50_intron 43,.,. 1,.,. TECRL/intron/;TECRL/non_coding/ 0.0000 1.0340 1.5630 8 Catecholaminergic polymorphic ventricular tachycardia 3 0.000 recessive HG002 HG002 chr4:64316009:T:A 2,.,. -1 -1 -1 -1 -1 -1 TECRL 50_intron 43,.,. 1,.,. TECRL/intron/;TECRL/non_coding/ 0.0000 1.0340 1.5630 8 Catecholaminergic polymorphic ventricular tachycardia 3 0.000 recessive HG002 HG002 chr4:64356724:A:T 2,.,. -1 -1 -1 -1 -1 -1 TECRL 50_intron 41,.,. 1,.,. TECRL/intron/;TECRL/non_coding/ 0.0000 1.0340 1.5630 8 Catecholaminergic polymorphic ventricular tachycardia 3 0.000 dominant HG002 HG002 chr4:64922914:AGAAAAGAAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.404255,.,. dominant HG002 HG002 chr4:64922927:A:G 1,.,. 1.36299e-05 0 2 -1 -1 -1 46,.,. 0.413043,.,. recessive HG002 HG002 chr4:65195662:CCCAT:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:65279322:AAAGTGGTTAAG:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr4:65279337:C:G 2,.,. 1.49925e-05 0 1 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr4:65574631:T:TATATATATACATATATATATATATACATATATATATATACACATATATATATACATATATATATATACAC 1,.,. -1 -1 -1 -1 -1 -1 EPHA5 50_intron 47,.,. 0.297872,.,. EPHA5/intron/ 0.0000 0.5681 0.7110 2 dominant HG002 HG002 chr4:65575996:G:GAGAA 1,.,. -1 -1 -1 -1 -1 -1 EPHA5 50_intron 48,.,. 0.333333,.,. EPHA5/intron/ 0.0000 0.5681 0.7110 2 recessive HG002 HG002 chr4:65640282:C:T 2,.,. 0.00155121 0 143 -1 -1 -1 EPHA5 50_intron 48,.,. 1,.,. EPHA5/intron/ 0.0000 0.5681 0.7110 2 dominant HG002 HG002 chr4:66169438:G:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.468085,.,. recessive HG002 HG002 chr4:66760810:AAGTTC:A 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr4:66760817:A:C 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr4:66797589:AGTATG:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr4:66797595:C:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr4:66970467:C:T 1,.,. 6.58215e-06 0 1 -1 -1 -1 49,.,. 0.489796,.,. dominant HG002 HG002 chr4:67075941:T:C 1,.,. 2.63061e-05 0 4 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr4:67296912:CTTGTGCCAGT:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr4:67296924:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr4:67296927:A:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr4:67296929:A:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr4:67296930:G:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr4:67887157:A:AGTGT 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.684211,.,. dominant HG002 HG002 chr4:67887157:A:AGTGTGTGTGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.73913,.,. dominant HG002 HG002 chr4:68092721:C:CTTTA 1,.,. -1 -1 -1 -1 -1 -1 TMPRSS11F 50_intron 51,.,. 0.529412,.,. TMPRSS11F/intron/ 0.0000 0.7464 0.9940 5 dominant HG002 HG002 chr4:68092723:A:T 1,.,. -1 -1 -1 -1 -1 -1 TMPRSS11F 50_intron 53,.,. 0.528302,.,. TMPRSS11F/intron/ 0.0000 0.7464 0.9940 5 dominant HG002 HG002 chr4:68373574:A:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr4:68918301:A:T 1,.,. 2.62912e-05 0 4 -1 -1 -1 AC021146.1 53_non_coding 50,.,. 0.58,.,. AC021146.1/non_coding/ dominant HG002 HG002 chr4:68996268:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. recessive HG002 HG002 chr4:68997776:T:TGGATGATTC 2,.,. 0.000896414 0 9 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr4:68997785:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr4:69164580:T:C 1,.,. 2.6347e-05 0 4 -1 -1 -1 59,.,. 0.491525,.,. dominant HG002 HG002 chr4:69196046:C:CTCAA 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.48,.,. dominant HG002 HG002 chr4:69196047:C:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.48,.,. recessive HG002 HG002 chr4:69321868:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr4:69327278:C:T 2,.,. 2.84244e-05 0 4 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chr4:69431130:AAT:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr4:69431137:G:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr4:69480090:A:G 1,.,. 2.62916e-05 0 4 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr4:69519685:A:G 1,.,. 2.62784e-05 0 4 -1 -1 -1 UGT2B4 50_intron 37,.,. 0.459459,.,. UGT2B4/non_coding/;UGT2B4/intron/ 0.0000 0.9237 1.1910 6 dominant HG002 HG002 chr4:69524119:A:C 1,.,. -1 -1 -1 -1 -1 -1 UGT2B4 50_intron 38,.,. 0.5,.,. UGT2B4/non_coding/;UGT2B4/intron/ 0.0000 0.9237 1.1910 6 dominant HG002 HG002 chr4:69535147:CGTGGATT:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr4:69538269:T:TTTAC 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.404762,.,. dominant HG002 HG002 chr4:69538271:A:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr4:69548237:T:TTAA 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr4:69548243:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr4:69614112:T:A 1,.,. -1 -1 -1 -1 -1 -1 UGT2A1 50_intron 50,.,. 0.44,.,. UGT2A1/intron/ 0.0000 1.2978 1.6120 8 dominant HG002 HG002 chr4:69614113:A:C 1,.,. -1 -1 -1 -1 -1 -1 UGT2A1 50_intron 50,.,. 0.44,.,. UGT2A1/intron/ 0.0000 1.2978 1.6120 8 dominant HG002 HG002 chr4:69614114:A:T 1,.,. -1 -1 -1 -1 -1 -1 UGT2A1 50_intron 51,.,. 0.431373,.,. UGT2A1/intron/ 0.0000 1.2978 1.6120 8 dominant HG002 HG002 chr4:69614116:C:CTGAATGGGT 1,.,. -1 -1 -1 -1 -1 -1 UGT2A1 50_intron 52,.,. 0.423077,.,. UGT2A1/intron/ 0.0000 1.2978 1.6120 8 dominant HG002 HG002 chr4:69668503:A:G 1,.,. 2.64096e-05 0 4 -1 -1 -1 43,.,. 0.372093,.,. dominant HG002 HG002 chr4:69747292:G:A 1,.,. 6.56538e-06 0 1 -1 -1 -1 SULT1B1 50_intron 42,.,. 0.452381,.,. SULT1B1/intron/ 0.0000 0.7253 1.0360 5 dominant HG002 HG002 chr4:69883793:G:C 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.462963,.,. dominant HG002 HG002 chr4:69883794:T:A 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.462963,.,. dominant HG002 HG002 chr4:69883796:T:TTATTGTGGGTGTTGG 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.471698,.,. dominant HG002 HG002 chr4:70082361:G:A 1,.,. -1 -1 -1 -1 -1 -1 CSN1S2AP 53_non_coding 37,.,. 0.459459,.,. CSN1S2AP/non_coding/ dominant HG002 HG002 chr4:70146470:ATAATAAT:A 1,.,. -1 -1 -1 -1 -1 -1 PRR27 53_non_coding 49,.,. 0.428571,.,. PRR27/non_coding/ 0.0152 0.6668 1.2510 7 dominant HG002 HG002 chr4:70152267:T:TTAAA 1,.,. -1 -1 -1 -1 -1 -1 PRR27 50_intron 44,.,. 0.590909,.,. PRR27/non_coding/;PRR27/intron/ 0.0152 0.6668 1.2510 7 dominant HG002 HG002 chr4:70329483:G:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.658537,.,. dominant HG002 HG002 chr4:70414200:G:A 1,.,. 6.57125e-06 0 1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr4:70420116:A:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr4:70420117:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr4:70420118:C:G 1,.,. 6.57869e-06 0 1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr4:70524571:C:T 1,.,. 2.63175e-05 0 4 -1 -1 -1 AMTN 50_intron 39,.,. 0.358974,.,. AMTN/intron/ 0.0000 1.1843 1.6560 8 Amelogenesis imperfecta type 3B 0.000 dominant HG002 HG002 chr4:70983628:C:G 1,.,. 1.31601e-05 0 2 -1 -1 -1 MOB1B 36_3_prime_utr 58,.,. 0.517241,.,. MOB1B/3_prime_utr/ENST00000309395 0.0004 0.7659 1.2410 7 dominant HG002 HG002 chr4:70989823:T:C 1,.,. 1.31444e-05 0 2 -1 -1 -1 MOB1B 53_non_coding 58,.,. 0.465517,.,. MOB1B/non_coding/ 0.0004 0.7659 1.2410 7 dominant HG002 HG002 chr4:71142597:A:G 1,.,. -1 -1 -1 -1 -1 -1 SLC4A4 50_intron 33,.,. 0.484848,.,. SLC4A4/intron/ 1.0000 0.2266 0.3290 0 Autosomal recessive proximal renal tubular acidosis 0.000 dominant HG002 HG002 chr4:71349795:CACAAA:C 1,.,. -1 -1 -1 -1 -1 -1 SLC4A4 50_intron 62,.,. 0.403226,.,. SLC4A4/intron/;SLC4A4/non_coding/ 1.0000 0.2266 0.3290 0 Autosomal recessive proximal renal tubular acidosis 0.000 dominant HG002 HG002 chr4:71349801:A:C 1,.,. -1 -1 -1 -1 -1 -1 SLC4A4 50_intron 62,.,. 0.403226,.,. SLC4A4/intron/;SLC4A4/non_coding/ 1.0000 0.2266 0.3290 0 Autosomal recessive proximal renal tubular acidosis 0.000 dominant HG002 HG002 chr4:71376758:T:A 1,.,. 6.58094e-06 0 1 -1 -1 -1 SLC4A4 50_intron 45,.,. 0.488889,.,. SLC4A4/intron/;SLC4A4/non_coding/ 1.0000 0.2266 0.3290 0 Autosomal recessive proximal renal tubular acidosis 0.000 dominant HG002 HG002 chr4:71551621:C:A 1,.,. -1 -1 -1 -1 -1 -1 SLC4A4 50_intron 47,.,. 0.468085,.,. SLC4A4/intron/ 1.0000 0.2266 0.3290 0 Autosomal recessive proximal renal tubular acidosis 0.000 dominant HG002 HG002 chr4:71745840:C:G 1,.,. 1.31574e-05 0 2 -1 -1 -1 GC 50_intron 38,.,. 0.5,.,. GC/intron/;GC/non_coding/ 0.0000 1.0185 1.4920 8 dominant HG002 HG002 chr4:71808713:C:T 1,.,. 1.08338e-05 0 1 -1 -1 -1 47,.,. 0.617021,.,. dominant HG002 HG002 chr4:71864170:AAAAT:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.377778,.,. dominant HG002 HG002 chr4:71864177:A:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. recessive HG002 HG002 chr4:71972866:T:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr4:71972867:GGACCAC:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr4:72021172:GCAACAA:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.4375,.,. dominant HG002 HG002 chr4:72090680:A:G 1,.,. 6.5735e-06 0 1 -1 -1 -1 NPFFR2 50_intron 38,.,. 0.368421,.,. NPFFR2/intron/ 0.0093 0.8288 1.5890 8 dominant HG002 HG002 chr4:72189997:TTCCA:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr4:72190002:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr4:73329520:G:A 1,.,. 1.97197e-05 0 3 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr4:73354022:TTATA:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr4:73354029:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. recessive HG002 HG002 chr4:73463792:AGAGGTTGAATCT:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr4:73463806:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr4:73607734:AACCCTCC:A 2,.,. -1 -1 -1 -1 -1 -1 RASSF6 50_intron 29,.,. 1,.,. RASSF6/intron/;RASSF6/non_coding/ 0.0004 0.9043 1.5220 8 recessive HG002 HG002 chr4:73607742:A:T 2,.,. -1 -1 -1 -1 -1 -1 RASSF6 50_intron 29,.,. 1,.,. RASSF6/intron/;RASSF6/non_coding/ 0.0004 0.9043 1.5220 8 dominant HG002 HG002 chr4:73751964:A:AAAAAAGG 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.408163,.,. recessive HG002 HG002 chr4:73931664:T:C 2,.,. 6.58155e-06 0 1 -1 -1 -1 54,.,. 1,.,. dominant HG002 HG002 chr4:73969770:C:T 1,.,. 6.57272e-06 0 1 -1 -1 -1 46,.,. 0.5,.,. recessive HG002 HG002 chr4:73975075:T:TAGTCACCTC 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. recessive HG002 HG002 chr4:73975078:T:C 2,.,. 9.44882e-05 0 3 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr4:74349514:T:A 1,.,. 1.49777e-05 0 1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr4:74362191:TGC:T 1,.,. 1.40909e-05 0 2 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr4:74394066:G:C 1,.,. -1 -1 -1 0.00105116 0 3 37,.,. 0.405405,.,. dominant HG002 HG002 chr4:74407047:G:GAGATTGAGA 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.315789,.,. dominant HG002 HG002 chr4:74407048:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.315789,.,. dominant HG002 HG002 chr4:74536686:T:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. recessive HG002 HG002 chr4:74560638:T:A 2,.,. 0.00061606 0 46 0.0024527 1 7 23,.,. 1,.,. recessive HG002 HG002 chr4:74605881:AAT:A 2,.,. 0.000221582 0 14 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr4:74614652:T:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.606061,.,. recessive HG002 HG002 chr4:74916978:T:A 2,.,. 0.000447051 0 68 0.00105116 0 3 52,.,. 1,.,. dominant HG002 HG002 chr4:75125680:A:T 1,.,. 1.97099e-05 0 3 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr4:75443354:G:A 1,.,. -1 -1 -1 0.000700771 0 2 41,.,. 0.439024,.,. dominant HG002 HG002 chr4:75796341:C:CTTTTTTTTTTTTTTTTT 1,.,. -1 -1 -1 -1 -1 -1 USO1 50_intron 28,.,. 0.428571,.,. USO1/intron/ 0.0000 0.5181 0.6490 2 dominant HG002 HG002 chr4:75893862:C:T 1,.,. -1 -1 -1 -1 -1 -1 PPEF2 50_intron 35,.,. 0.485714,.,. PPEF2/intron/;PPEF2/non_coding/ 0.0000 1.0312 1.2550 7 dominant HG002 HG002 chr4:75899782:A:ATGGC 1,.,. -1 -1 -1 -1 -1 -1 PPEF2 50_intron 34,.,. 0.588235,.,. PPEF2/intron/;PPEF2/non_coding/ 0.0000 1.0312 1.2550 7 dominant HG002 HG002 chr4:75899783:C:T 1,.,. 2.63477e-05 0 4 -1 -1 -1 PPEF2 50_intron 33,.,. 0.575758,.,. PPEF2/intron/;PPEF2/non_coding/ 0.0000 1.0312 1.2550 7 dominant HG002 HG002 chr4:76052716:T:TTTC 1,.,. 1.10115e-05 0 1 -1 -1 -1 ART3 50_intron 36,.,. 0.361111,.,. ART3/intron/;ART3/non_coding/ 0.0000 1.0708 1.3770 7 dominant HG002 HG002 chr4:76346503:A:G 1,.,. -1 -1 -1 -1 -1 -1 CCDC158 50_intron 31,.,. 0.387097,.,. CCDC158/non_coding/;CCDC158/intron/ 0.0000 0.7770 0.9570 4 dominant HG002 HG002 chr4:76366626:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 CCDC158 50_intron 39,.,. 0.410256,.,. CCDC158/non_coding/;CCDC158/intron/ 0.0000 0.7770 0.9570 4 dominant HG002 HG002 chr4:76446414:TGGC:T 1,.,. -1 -1 -1 -1 -1 -1 SHROOM3 50_intron 40,.,. 0.45,.,. SHROOM3/intron/;SHROOM3/non_coding/ 0.9998 0.3515 0.4480 1 dominant HG002 HG002 chr4:76446423:T:G 1,.,. -1 -1 -1 -1 -1 -1 SHROOM3 50_intron 40,.,. 0.5,.,. SHROOM3/intron/;SHROOM3/non_coding/ 0.9998 0.3515 0.4480 1 dominant HG002 HG002 chr4:76488854:AACTTGTTTTT:A 1,.,. -1 -1 -1 -1 -1 -1 SHROOM3 50_intron 44,.,. 0.681818,.,. SHROOM3/intron/;SHROOM3/non_coding/ 0.9998 0.3515 0.4480 1 dominant HG002 HG002 chr4:76488866:T:A 1,.,. -1 -1 -1 -1 -1 -1 SHROOM3 50_intron 42,.,. 0.714286,.,. SHROOM3/intron/;SHROOM3/non_coding/ 0.9998 0.3515 0.4480 1 dominant HG002 HG002 chr4:77184933:C:A 1,.,. -1 -1 -1 -1 -1 -1 CCNG2 53_non_coding 47,.,. 0.680851,.,. CCNG2/non_coding/ 0.5734 0.3764 0.6380 2 dominant HG002 HG002 chr4:77768607:C:T 1,.,. -1 -1 -1 -1 -1 -1 CNOT6L 50_intron 33,.,. 0.606061,.,. CNOT6L/intron/;CNOT6L/non_coding/ 1.0000 0.0653 0.1690 0 dominant HG002 HG002 chr4:77789945:CA:C 1,.,. -1 -1 -1 0.00105116 1 3 CNOT6L 50_intron 17,.,. 0.705882,.,. CNOT6L/intron/;CNOT6L/non_coding/ 1.0000 0.0653 0.1690 0 dominant HG002 HG002 chr4:77970319:C:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.581395,.,. dominant HG002 HG002 chr4:78006416:TAACTTTTGGTGTG:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.5,.,. dominant HG002 HG002 chr4:78006435:A:C 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.52,.,. dominant HG002 HG002 chr4:78288138:CA:C 1,.,. -1 -1 -1 -1 -1 -1 FRAS1 50_intron 44,.,. 0.431818,.,. FRAS1/intron/ 0.0000 0.6563 0.7290 2 Fraser syndrome 1 0.000 dominant HG002 HG002 chr4:78886888:G:A 1,.,. 6.57315e-06 0 1 -1 -1 -1 BMP2K 50_intron 56,.,. 0.482143,.,. BMP2K/intron/ 0.0000 0.6093 0.7680 3 dominant HG002 HG002 chr4:78968706:CTTTCT:C 1,.,. 3.04368e-05 0 2 -1 -1 -1 46,.,. 0.326087,.,. dominant HG002 HG002 chr4:78968716:T:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr4:79352803:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr4:79361346:T:C 1,.,. 1.31422e-05 0 2 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr4:79921759:G:T 1,.,. -1 -1 -1 -1 -1 -1 ANTXR2 50_intron 51,.,. 0.54902,.,. ANTXR2/intron/;ANTXR2/non_coding/ 0.0000 0.7365 0.9810 4 Hyaline fibromatosis syndrome 0.000 dominant HG002 HG002 chr4:80681181:T:C 1,.,. -1 -1 -1 -1 -1 -1 CFAP299 50_intron 40,.,. 0.475,.,. CFAP299/intron/;CFAP299/non_coding/ 0.0010 0.8016 1.3580 7 dominant HG002 HG002 chr4:80974655:G:A 1,.,. -1 -1 -1 0.00140154 0 4 45,.,. 0.377778,.,. recessive HG002 HG002 chr4:81638089:T:A 2,.,. -1 -1 -1 -1 -1 -1 RASGEF1B 50_intron 43,.,. 1,.,. RASGEF1B/intron/;RASGEF1B/non_coding/ 0.0693 0.4410 0.6410 2 dominant HG002 HG002 chr4:82049651:G:GTTTCATAATTAT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr4:82049653:A:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr4:82078583:C:CTAAA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr4:82114081:A:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr4:82114082:A:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr4:82195688:TTTC:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr4:82195693:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr4:82394597:CTCTGTT:C 1,.,. 2.95666e-05 0 3 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr4:82394615:C:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr4:82394617:T:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. recessive HG002 HG002 chr4:82730231:T:A 2,.,. -1 -1 -1 -1 -1 -1 SCD5 50_intron 30,.,. 1,.,. SCD5/intron/ 0.0001 0.6244 0.9070 4 Hearing loss, autosomal dominant 79 0.000 recessive HG002 HG002 chr4:82730232:A:T 2,.,. -1 -1 -1 -1 -1 -1 SCD5 50_intron 30,.,. 1,.,. SCD5/intron/ 0.0001 0.6244 0.9070 4 Hearing loss, autosomal dominant 79 0.000 dominant HG002 HG002 chr4:82746951:AGGGCGTCAG:A 1,.,. -1 -1 -1 -1 -1 -1 SCD5 50_intron 36,.,. 0.472222,.,. SCD5/intron/ 0.0001 0.6244 0.9070 4 Hearing loss, autosomal dominant 79 0.000 dominant HG002 HG002 chr4:82753126:T:A 1,.,. -1 -1 -1 -1 -1 -1 SCD5 50_intron 32,.,. 0.46875,.,. SCD5/intron/ 0.0001 0.6244 0.9070 4 Hearing loss, autosomal dominant 79 0.000 dominant HG002 HG002 chr4:82753128:TAG:T 1,.,. -1 -1 -1 -1 -1 -1 SCD5 50_intron 32,.,. 0.46875,.,. SCD5/intron/ 0.0001 0.6244 0.9070 4 Hearing loss, autosomal dominant 79 0.000 dominant HG002 HG002 chr4:82753132:A:C 1,.,. -1 -1 -1 -1 -1 -1 SCD5 50_intron 32,.,. 0.46875,.,. SCD5/intron/ 0.0001 0.6244 0.9070 4 Hearing loss, autosomal dominant 79 0.000 dominant HG002 HG002 chr4:82753134:GATCC:G 1,.,. -1 -1 -1 -1 -1 -1 SCD5 50_intron 32,.,. 0.46875,.,. SCD5/intron/ 0.0001 0.6244 0.9070 4 Hearing loss, autosomal dominant 79 0.000 dominant HG002 HG002 chr4:82888391:TATATATAC:T 1,.,. -1 -1 -1 -1 -1 -1 SEC31A 50_intron 26,.,. 0.461538,.,. SEC31A/intron/;SEC31A/non_coding/ 0.0231 0.4280 0.5420 1 Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 0.000 dominant HG002 HG002 chr4:82913263:T:C 1,.,. 6.56996e-06 0 1 -1 -1 -1 THAP9;LIN54 50_intron 40,.,. 0.45,.,. THAP9/intron/;LIN54/non_coding/ 0.0000;;1.0000 0.5858;;0.1033 0.7910;;0.2040 3;;0 recessive HG002 HG002 chr4:83055062:C:T 2,.,. -1 -1 -1 -1 -1 -1 COPS4 50_intron 37,.,. 1,.,. COPS4/intron/;COPS4/non_coding/ 1.0000 0.1447 0.3040 0 recessive HG002 HG002 chr4:83055063:T:C 2,.,. -1 -1 -1 -1 -1 -1 COPS4 50_intron 37,.,. 1,.,. COPS4/intron/;COPS4/non_coding/ 1.0000 0.1447 0.3040 0 recessive HG002 HG002 chr4:83055064:C:T 2,.,. 9.19601e-05 0 14 -1 -1 -1 COPS4 50_intron 37,.,. 1,.,. COPS4/intron/;COPS4/non_coding/ 1.0000 0.1447 0.3040 0 dominant HG002 HG002 chr4:83574881:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 GPAT3 50_intron 22,.,. 0.363636,.,. GPAT3/intron/ 0.0000 0.9106 1.1530 6 dominant HG002 HG002 chr4:83608616:TGTGTACAAC:T 1,.,. 3.16016e-05 0 1 -1 -1 -1 49,.,. 0.489796,.,. dominant HG002 HG002 chr4:83649034:A:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.387097,.,. dominant HG002 HG002 chr4:83753663:TAC:T 1,.,. -1 -1 -1 0.00105116 0 3 38,.,. 0.526316,.,. dominant HG002 HG002 chr4:83868216:G:T 1,.,. 6.57531e-06 0 1 -1 -1 -1 53,.,. 0.509434,.,. recessive HG002 HG002 chr4:84332563:T:C 2,.,. 0.00537147 4 818 0.00595655 0 17 36,.,. 1,.,. recessive HG002 HG002 chr4:84380967:GTTC:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr4:84380978:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr4:84463913:G:C 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.679245,.,. dominant HG002 HG002 chr4:85272008:A:C 1,.,. 1.31876e-05 0 2 -1 -1 -1 58,.,. 0.482759,.,. recessive HG002 HG002 chr4:85643563:T:G 2,.,. -1 -1 -1 0.00105116 0 3 ARHGAP24 50_intron 6,.,. 1,.,. ARHGAP24/intron/;ARHGAP24/non_coding/ 0.0000 0.6280 0.7970 3 0.000 dominant HG002 HG002 chr4:85690223:A:G 1,.,. -1 -1 -1 -1 -1 -1 ARHGAP24 50_intron 39,.,. 0.487179,.,. ARHGAP24/intron/;ARHGAP24/non_coding/ 0.0000 0.6280 0.7970 3 0.000 recessive HG002 HG002 chr4:85756208:TAATA:T 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP24 50_intron 37,.,. 1,.,. ARHGAP24/intron/ 0.0000 0.6280 0.7970 3 0.000 recessive HG002 HG002 chr4:85756213:A:T 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP24 50_intron 38,.,. 1,.,. ARHGAP24/intron/ 0.0000 0.6280 0.7970 3 0.000 dominant HG002 HG002 chr4:85901052:G:T 1,.,. -1 -1 -1 -1 -1 -1 ARHGAP24 50_intron 42,.,. 0.5,.,. ARHGAP24/intron/ 0.0000 0.6280 0.7970 3 0.000 dominant HG002 HG002 chr4:85961304:T:TATTCCAG 1,.,. -1 -1 -1 -1 -1 -1 ARHGAP24 50_intron 52,.,. 0.384615,.,. ARHGAP24/intron/;ARHGAP24/non_coding/ 0.0000 0.6280 0.7970 3 0.000 dominant HG002 HG002 chr4:85961306:A:G 1,.,. 1.32235e-05 0 2 -1 -1 -1 ARHGAP24 50_intron 53,.,. 0.377358,.,. ARHGAP24/intron/;ARHGAP24/non_coding/ 0.0000 0.6280 0.7970 3 0.000 dominant HG002 HG002 chr4:86168392:G:A 1,.,. 1.97088e-05 0 3 -1 -1 -1 MAPK10 50_intron 32,.,. 0.34375,.,. MAPK10/intron/;MAPK10/non_coding/ 0.9062 0.3504 0.5400 1 0.000 recessive HG002 HG002 chr4:86256898:G:A 2,.,. 1.34629e-05 0 1 -1 -1 -1 MAPK10 50_intron 37,.,. 1,.,. MAPK10/intron/;MAPK10/non_coding/ 0.9062 0.3504 0.5400 1 0.000 dominant HG002 HG002 chr4:86747534:AGCAGCAGCAGCAGCG:A 1,.,. -1 -1 -1 -1 -1 -1 PTPN13 50_intron 40,.,. 0.5,.,. PTPN13/intron/ 0.0000 0.6394 0.7370 2 dominant HG002 HG002 chr4:86890179:A:AAGGGAGGG 1,.,. -1 -1 -1 -1 -1 -1 C4orf36;AC093827.5 50_intron 37,.,. 0.513514,.,. C4orf36/intron/;AC093827.5/non_coding/ 0.0003 0.8754 1.4450 7 dominant HG002 HG002 chr4:87162368:G:T 1,.,. 6.57635e-06 0 1 -1 -1 -1 KLHL8 36_3_prime_utr 31,.,. 0.580645,.,. KLHL8/3_prime_utr/ENST00000273963;KLHL8/3_prime_utr/ENST00000498875;KLHL8/3_prime_utr/ENST00000425278 0.0000 0.5913 0.7810 3 dominant HG002 HG002 chr4:87266731:C:A 1,.,. 1.31945e-05 0 2 -1 -1 -1 44,.,. 0.340909,.,. dominant HG002 HG002 chr4:87358802:A:T 1,.,. -1 -1 -1 0.000700771 0 2 HSD17B11 50_intron 26,.,. 0.538462,.,. HSD17B11/intron/;HSD17B11/non_coding/ 0.0078 0.6429 1.1220 6 dominant HG002 HG002 chr4:87463324:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr4:87492783:GGCACAGGA:G 1,.,. -1 -1 -1 -1 -1 -1 SPARCL1 50_intron 31,.,. 0.580645,.,. SPARCL1/intron/ 0.0000 0.7182 0.9320 4 dominant HG002 HG002 chr4:87492792:C:T 1,.,. -1 -1 -1 -1 -1 -1 SPARCL1 50_intron 31,.,. 0.580645,.,. SPARCL1/intron/ 0.0000 0.7182 0.9320 4 dominant HG002 HG002 chr4:87492794:T:G 1,.,. -1 -1 -1 -1 -1 -1 SPARCL1 50_intron 31,.,. 0.580645,.,. SPARCL1/intron/ 0.0000 0.7182 0.9320 4 dominant HG002 HG002 chr4:87492795:T:G 1,.,. -1 -1 -1 -1 -1 -1 SPARCL1 50_intron 31,.,. 0.580645,.,. SPARCL1/intron/ 0.0000 0.7182 0.9320 4 dominant HG002 HG002 chr4:87540399:T:TGGGA 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr4:87540400:C:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr4:87540401:T:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.456522,.,. recessive HG002 HG002 chr4:87631794:T:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr4:87631795:TGGAGAACTG:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. dominant HG002 HG002 chr4:87719968:C:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.325,.,. dominant HG002 HG002 chr4:88241365:A:G 1,.,. 1.31657e-05 0 2 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr4:89270580:TATATA:T 1,.,. -1 -1 -1 -1 -1 -1 GPRIN3 50_intron 29,.,. 0.344828,.,. GPRIN3/intron/ 0.0003 0.7872 1.2750 7 dominant HG002 HG002 chr4:89715154:A:G 1,.,. -1 -1 -1 -1 -1 -1 SNCA 50_intron 45,.,. 0.422222,.,. SNCA/intron/ 0.7967 0.2196 0.6910 2 Lewy body dementia;Autosomal dominant Parkinson disease 1;Autosomal dominant Parkinson disease 4 0.000 dominant HG002 HG002 chr4:89725336:G:A 1,.,. -1 -1 -1 -1 -1 -1 SNCA 36_3_prime_utr 47,.,. 0.531915,.,. SNCA/3_prime_utr/ENST00000618500;SNCA/3_prime_utr/ENST00000420646;SNCA/3_prime_utr/ENST00000394991;SNCA/3_prime_utr/ENST00000336904;SNCA/3_prime_utr/ENST00000394989;SNCA/3_prime_utr/ENST00000673718 0.7967 0.2196 0.6910 2 Lewy body dementia;Autosomal dominant Parkinson disease 1;Autosomal dominant Parkinson disease 4 0.000 dominant HG002 HG002 chr4:89902121:A:AATAAAAC 1,.,. -1 -1 -1 -1 -1 -1 MMRN1 20_splice_region 47,.,. 0.446809,.,. MMRN1/splice_region/ENST00000508372 0.0000 0.8446 1.0160 5 dominant HG002 HG002 chr4:89902125:A:T 1,.,. -1 -1 -1 -1 -1 -1 MMRN1 50_intron 47,.,. 0.446809,.,. MMRN1/intron/ 0.0000 0.8446 1.0160 5 dominant HG002 HG002 chr4:90140657:CTTTTTTTTTTT:C 1,.,. 1.57228e-05 0 1 -1 -1 -1 CCSER1 50_intron 37,.,. 0.567568,.,. CCSER1/intron/ 0.1404 0.4222 0.5900 2 dominant HG002 HG002 chr4:90994189:TGTAGAG:T 1,.,. -1 -1 -1 -1 -1 -1 CCSER1 50_intron 31,.,. 0.419355,.,. CCSER1/intron/ 0.1404 0.4222 0.5900 2 dominant HG002 HG002 chr4:90994197:T:G 1,.,. -1 -1 -1 -1 -1 -1 CCSER1 50_intron 31,.,. 0.419355,.,. CCSER1/intron/ 0.1404 0.4222 0.5900 2 dominant HG002 HG002 chr4:91363355:TTTTGTGTGTGTGTGTG:T 1,.,. -1 -1 -1 -1 -1 -1 CCSER1 50_intron 15,.,. 0.666667,.,. CCSER1/intron/ 0.1404 0.4222 0.5900 2 recessive HG002 HG002 chr4:91371828:G:A 2,.,. -1 -1 -1 -1 -1 -1 CCSER1 50_intron 35,.,. 1,.,. CCSER1/intron/ 0.1404 0.4222 0.5900 2 recessive HG002 HG002 chr4:91371829:G:C 2,.,. -1 -1 -1 -1 -1 -1 CCSER1 50_intron 35,.,. 1,.,. CCSER1/intron/ 0.1404 0.4222 0.5900 2 recessive HG002 HG002 chr4:91371830:ACCTAGGTGATGAG:A 2,.,. -1 -1 -1 -1 -1 -1 CCSER1 50_intron 35,.,. 1,.,. CCSER1/intron/ 0.1404 0.4222 0.5900 2 recessive HG002 HG002 chr4:91371844:C:A 2,.,. -1 -1 -1 -1 -1 -1 CCSER1 50_intron 36,.,. 1,.,. CCSER1/intron/ 0.1404 0.4222 0.5900 2 dominant HG002 HG002 chr4:92013852:C:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.571429,.,. dominant HG002 HG002 chr4:92055144:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr4:92352788:T:A 1,.,. -1 -1 -1 -1 -1 -1 GRID2 50_intron 43,.,. 0.465116,.,. GRID2/intron/;GRID2/non_coding/ 1.0000 0.1768 0.3320 0 Autosomal recessive spinocerebellar ataxia 18 0.000 dominant HG002 HG002 chr4:92352789:G:T 1,.,. -1 -1 -1 -1 -1 -1 GRID2 50_intron 42,.,. 0.47619,.,. GRID2/intron/;GRID2/non_coding/ 1.0000 0.1768 0.3320 0 Autosomal recessive spinocerebellar ataxia 18 0.000 dominant HG002 HG002 chr4:92358157:A:ATGGGTT 1,.,. -1 -1 -1 -1 -1 -1 GRID2 50_intron 43,.,. 0.465116,.,. GRID2/intron/;GRID2/non_coding/ 1.0000 0.1768 0.3320 0 Autosomal recessive spinocerebellar ataxia 18 0.000 dominant HG002 HG002 chr4:92358158:G:C 1,.,. -1 -1 -1 -1 -1 -1 GRID2 50_intron 44,.,. 0.477273,.,. GRID2/intron/;GRID2/non_coding/ 1.0000 0.1768 0.3320 0 Autosomal recessive spinocerebellar ataxia 18 0.000 dominant HG002 HG002 chr4:92717927:C:A 1,.,. -1 -1 -1 -1 -1 -1 GRID2 50_intron 37,.,. 0.459459,.,. GRID2/intron/;GRID2/non_coding/ 1.0000 0.1768 0.3320 0 Autosomal recessive spinocerebellar ataxia 18 0.000 recessive HG002 HG002 chr4:93124117:G:A 2,.,. 0.000361739 0 52 -1 -1 -1 GRID2 50_intron 35,.,. 1,.,. GRID2/intron/;GRID2/non_coding/ 1.0000 0.1768 0.3320 0 Autosomal recessive spinocerebellar ataxia 18 0.000 dominant HG002 HG002 chr4:93199960:T:G 1,.,. 2.62843e-05 0 4 -1 -1 -1 GRID2 50_intron 49,.,. 0.571429,.,. GRID2/intron/;GRID2/non_coding/ 1.0000 0.1768 0.3320 0 Autosomal recessive spinocerebellar ataxia 18 0.000 recessive HG002 HG002 chr4:93343172:G:T 2,.,. 0.00715635 0 144 0.00105116 0 3 GRID2 50_intron 36,.,. 1,.,. GRID2/intron/ 1.0000 0.1768 0.3320 0 Autosomal recessive spinocerebellar ataxia 18 0.000 dominant HG002 HG002 chr4:93448897:C:T 1,.,. 5.49692e-05 0 1 0.00140154 0 4 GRID2 50_intron 48,.,. 0.395833,.,. GRID2/intron/ 1.0000 0.1768 0.3320 0 Autosomal recessive spinocerebellar ataxia 18 0.000 dominant HG002 HG002 chr4:93656796:C:G 1,.,. -1 -1 -1 -1 -1 -1 GRID2 50_intron 39,.,. 0.435897,.,. GRID2/intron/ 1.0000 0.1768 0.3320 0 Autosomal recessive spinocerebellar ataxia 18 0.000 dominant HG002 HG002 chr4:93679227:A:C 1,.,. -1 -1 -1 -1 -1 -1 GRID2 50_intron 47,.,. 0.510638,.,. GRID2/intron/ 1.0000 0.1768 0.3320 0 Autosomal recessive spinocerebellar ataxia 18 0.000 dominant HG002 HG002 chr4:93679244:G:T 1,.,. -1 -1 -1 -1 -1 -1 GRID2 50_intron 47,.,. 0.510638,.,. GRID2/intron/ 1.0000 0.1768 0.3320 0 Autosomal recessive spinocerebellar ataxia 18 0.000 dominant HG002 HG002 chr4:93765611:T:A 1,.,. -1 -1 -1 -1 -1 -1 GRID2 50_intron 31,.,. 0.419355,.,. GRID2/intron/ 1.0000 0.1768 0.3320 0 Autosomal recessive spinocerebellar ataxia 18 0.000 dominant HG002 HG002 chr4:94016073:GGTTCATTCCC:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr4:94016084:A:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr4:94695687:G:GTAAATAAA 1,.,. 2.47705e-05 0 3 -1 -1 -1 29,.,. 0.586207,.,. recessive HG002 HG002 chr4:94770186:G:T 2,.,. -1 -1 -1 0.00350385 1 10 BMPR1B 50_intron 46,.,. 1,.,. BMPR1B/intron/ 1.0000 0.2046 0.3310 0 Type A2 brachydactyly;Brachydactyly type A1D;Acromesomelic dysplasia 3 0.000 dominant HG002 HG002 chr4:94849793:G:GGGGTGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 BMPR1B 50_intron 24,.,. 0.708333,.,. BMPR1B/intron/ 1.0000 0.2046 0.3310 0 Type A2 brachydactyly;Brachydactyly type A1D;Acromesomelic dysplasia 3 0.000 dominant HG002 HG002 chr4:94849796:G:T 1,.,. -1 -1 -1 -1 -1 -1 BMPR1B 50_intron 46,.,. 0.434783,.,. BMPR1B/intron/ 1.0000 0.2046 0.3310 0 Type A2 brachydactyly;Brachydactyly type A1D;Acromesomelic dysplasia 3 0.000 dominant HG002 HG002 chr4:94849798:G:T 1,.,. -1 -1 -1 -1 -1 -1 BMPR1B 50_intron 44,.,. 0.477273,.,. BMPR1B/intron/ 1.0000 0.2046 0.3310 0 Type A2 brachydactyly;Brachydactyly type A1D;Acromesomelic dysplasia 3 0.000 recessive HG002 HG002 chr4:94987101:A:G 2,.,. 0.023622 0 18 -1 -1 -1 BMPR1B 50_intron 36,.,. 1,.,. BMPR1B/intron/ 1.0000 0.2046 0.3310 0 Type A2 brachydactyly;Brachydactyly type A1D;Acromesomelic dysplasia 3 0.000 recessive HG002 HG002 chr4:94987102:TATATGTATATATA:T 2,.,. 0.00124069 0 1 -1 -1 -1 BMPR1B 50_intron 36,.,. 1,.,. BMPR1B/intron/ 1.0000 0.2046 0.3310 0 Type A2 brachydactyly;Brachydactyly type A1D;Acromesomelic dysplasia 3 0.000 recessive HG002 HG002 chr4:95001352:GA:G 2,.,. -1 -1 -1 -1 -1 -1 BMPR1B 50_intron 34,.,. 1,.,. BMPR1B/intron/ 1.0000 0.2046 0.3310 0 Type A2 brachydactyly;Brachydactyly type A1D;Acromesomelic dysplasia 3 0.000 recessive HG002 HG002 chr4:95001354:A:T 2,.,. -1 -1 -1 -1 -1 -1 BMPR1B 50_intron 34,.,. 1,.,. BMPR1B/intron/ 1.0000 0.2046 0.3310 0 Type A2 brachydactyly;Brachydactyly type A1D;Acromesomelic dysplasia 3 0.000 recessive HG002 HG002 chr4:95001356:T:A 2,.,. -1 -1 -1 -1 -1 -1 BMPR1B 50_intron 34,.,. 1,.,. BMPR1B/intron/ 1.0000 0.2046 0.3310 0 Type A2 brachydactyly;Brachydactyly type A1D;Acromesomelic dysplasia 3 0.000 dominant HG002 HG002 chr4:95341502:A:AGAGG 1,.,. -1 -1 -1 -1 -1 -1 UNC5C 50_intron 39,.,. 0.307692,.,. UNC5C/intron/ 0.0000 0.5021 0.6460 2 dominant HG002 HG002 chr4:95784864:C:A 1,.,. 1.31491e-05 0 2 -1 -1 -1 46,.,. 0.478261,.,. recessive HG002 HG002 chr4:96169769:TTTTAAA:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr4:96169777:T:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr4:96302087:T:C 1,.,. 6.57056e-06 0 1 -1 -1 -1 53,.,. 0.566038,.,. recessive HG002 HG002 chr4:96329172:A:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr4:96329173:T:A 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr4:96329174:A:G 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr4:96420082:C:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.581395,.,. dominant HG002 HG002 chr4:96428687:A:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.369565,.,. dominant HG002 HG002 chr4:96479852:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. recessive HG002 HG002 chr4:96525381:TGACTACA:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr4:96525389:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr4:97069537:ATGC:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr4:97069541:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr4:97355749:G:GTA 1,.,. -1 -1 -1 -1 -1 -1 STPG2 50_intron 61,.,. 0.442623,.,. STPG2/intron/;STPG2/non_coding/ 0.0000 0.9292 1.2810 7 dominant HG002 HG002 chr4:97355750:A:C 1,.,. -1 -1 -1 -1 -1 -1 STPG2 50_intron 61,.,. 0.442623,.,. STPG2/intron/;STPG2/non_coding/ 0.0000 0.9292 1.2810 7 dominant HG002 HG002 chr4:98039688:A:ATATATATATC 1,.,. 7.07039e-05 0 4 -1 -1 -1 STPG2 50_intron 41,.,. 0.463415,.,. STPG2/intron/ 0.0000 0.9292 1.2810 7 dominant HG002 HG002 chr4:98532617:C:A 1,.,. -1 -1 -1 -1 -1 -1 TSPAN5 50_intron 50,.,. 0.38,.,. TSPAN5/intron/;TSPAN5/non_coding/ 0.9987 0.2333 0.4210 1 dominant HG002 HG002 chr4:98861231:A:C 1,.,. 6.57212e-06 0 1 -1 -1 -1 41,.,. 0.560976,.,. recessive HG002 HG002 chr4:100428063:C:CAGCTGACAGTGTCT 2,.,. -1 -1 -1 -1 -1 -1 EMCN 50_intron 49,.,. 1,.,. EMCN/intron/ 0.0000 0.8924 1.3550 7 recessive HG002 HG002 chr4:100428064:C:G 2,.,. -1 -1 -1 -1 -1 -1 EMCN 50_intron 48,.,. 1,.,. EMCN/intron/ 0.0000 0.8924 1.3550 7 dominant HG002 HG002 chr4:101740491:C:T 1,.,. -1 -1 -1 -1 -1 -1 BANK1 50_intron 45,.,. 0.466667,.,. BANK1/intron/ 0.0000 0.9353 1.1560 6 dominant HG002 HG002 chr4:101743615:A:C 1,.,. 1.31761e-05 0 2 -1 -1 -1 BANK1 50_intron 40,.,. 0.525,.,. BANK1/intron/ 0.0000 0.9353 1.1560 6 dominant HG002 HG002 chr4:101844798:C:T 1,.,. 6.57151e-06 0 1 -1 -1 -1 BANK1 50_intron 39,.,. 0.410256,.,. BANK1/intron/ 0.0000 0.9353 1.1560 6 dominant HG002 HG002 chr4:101857299:G:A 1,.,. 1.97218e-05 0 3 -1 -1 -1 BANK1 50_intron 37,.,. 0.432432,.,. BANK1/intron/ 0.0000 0.9353 1.1560 6 dominant HG002 HG002 chr4:101887111:C:T 1,.,. 1.31477e-05 0 2 -1 -1 -1 BANK1 50_intron 46,.,. 0.434783,.,. BANK1/intron/ 0.0000 0.9353 1.1560 6 dominant HG002 HG002 chr4:101924973:A:T 1,.,. 1.97782e-05 0 3 -1 -1 -1 BANK1 50_intron 42,.,. 0.5,.,. BANK1/intron/ 0.0000 0.9353 1.1560 6 dominant HG002 HG002 chr4:101932501:G:A 1,.,. 6.60738e-06 0 1 -1 -1 -1 BANK1 50_intron 52,.,. 0.576923,.,. BANK1/intron/ 0.0000 0.9353 1.1560 6 dominant HG002 HG002 chr4:101953648:C:T 1,.,. 1.31591e-05 0 2 -1 -1 -1 BANK1 50_intron 53,.,. 0.471698,.,. BANK1/intron/ 0.0000 0.9353 1.1560 6 dominant HG002 HG002 chr4:101978674:CAT:C 1,.,. 6.58883e-06 0 1 -1 -1 -1 BANK1 50_intron 46,.,. 0.391304,.,. BANK1/intron/ 0.0000 0.9353 1.1560 6 dominant HG002 HG002 chr4:102007070:A:ATATATATAAATATATATAATATATAAT 1,.,. -1 -1 -1 -1 -1 -1 BANK1 50_intron 42,.,. 0.452381,.,. BANK1/intron/;BANK1/non_coding/ 0.0000 0.9353 1.1560 6 dominant HG002 HG002 chr4:102043870:T:G 1,.,. 1.31548e-05 0 2 -1 -1 -1 BANK1 30_synonymous 52,.,. 0.442308,.,. BANK1/synonymous/ENST00000504592;BANK1/synonymous/ENST00000428908;BANK1/synonymous/ENST00000508653;BANK1/synonymous/ENST00000322953;BANK1/synonymous/ENST00000444316 0.0000 0.9353 1.1560 6 dominant HG002 HG002 chr4:102055936:G:A 1,.,. 1.31752e-05 0 2 -1 -1 -1 BANK1 50_intron 44,.,. 0.477273,.,. BANK1/intron/ 0.0000 0.9353 1.1560 6 dominant HG002 HG002 chr4:102571587:G:A 1,.,. 2.62885e-05 0 4 -1 -1 -1 NFKB1 50_intron 52,.,. 0.5,.,. NFKB1/intron/;NFKB1/non_coding/ 1.0000 0.0989 0.1780 0 Immunodeficiency, common variable, 12 0.000 dominant HG002 HG002 chr4:102636866:T:C 1,.,. 6.56996e-06 0 1 -1 -1 -1 MANBA 50_intron 39,.,. 0.641026,.,. MANBA/intron/;MANBA/non_coding/ 0.0000 0.6478 0.8260 3 Beta-D-mannosidosis 0.000 dominant HG002 HG002 chr4:102709307:G:A 1,.,. -1 -1 -1 -1 -1 -1 MANBA 50_intron 52,.,. 0.365385,.,. MANBA/intron/;MANBA/non_coding/ 0.0000 0.6478 0.8260 3 Beta-D-mannosidosis 0.000 dominant HG002 HG002 chr4:102898005:A:G 1,.,. 1.97109e-05 0 3 -1 -1 -1 SLC9B1;PABPC1P7 50_intron 40,.,. 0.45,.,. SLC9B1/intron/;PABPC1P7/non_coding/ 0.0104 0.5897 1.0000 5 dominant HG002 HG002 chr4:102919723:GGTCTTAGCAACT:G 1,.,. -1 -1 -1 -1 -1 -1 SLC9B1 50_intron 48,.,. 0.583333,.,. SLC9B1/intron/;SLC9B1/non_coding/ 0.0104 0.5897 1.0000 5 dominant HG002 HG002 chr4:102919736:A:T 1,.,. -1 -1 -1 -1 -1 -1 SLC9B1 50_intron 48,.,. 0.583333,.,. SLC9B1/intron/;SLC9B1/non_coding/ 0.0104 0.5897 1.0000 5 dominant HG002 HG002 chr4:103113124:A:ATAAGTGTATATATAAG 1,.,. -1 -1 -1 -1 -1 -1 CENPE 50_intron 45,.,. 0.444444,.,. CENPE/intron/ 0.9996 0.3725 0.4510 1 Microcephaly 13, primary, autosomal recessive 0.000 dominant HG002 HG002 chr4:103183873:A:T 1,.,. 6.57056e-06 0 1 -1 -1 -1 CENPE 50_intron 54,.,. 0.407407,.,. CENPE/intron/ 0.9996 0.3725 0.4510 1 Microcephaly 13, primary, autosomal recessive 0.000 dominant HG002 HG002 chr4:103214336:G:T 1,.,. 2.62916e-05 0 4 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr4:103232417:CAGA:C 1,.,. 6.57696e-06 0 1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr4:103384997:CAAAAAAAAAAA:C 1,.,. -1 -1 -1 0.00140154 0 4 17,.,. 0.470588,.,. dominant HG002 HG002 chr4:103404592:C:G 1,.,. 1.9747e-05 0 3 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr4:103426854:T:C 1,.,. 1.97459e-05 0 3 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr4:103499358:CCAGT:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr4:103499363:C:A 1,.,. 0.000685871 0 1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr4:103511901:AT:A 1,.,. 1.976e-05 0 3 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr4:103567237:A:G 1,.,. 1.97068e-05 0 3 -1 -1 -1 60,.,. 0.383333,.,. dominant HG002 HG002 chr4:103607409:CAGTGTTT:C 1,.,. 6.5984e-06 0 1 -1 -1 -1 TACR3 50_intron 52,.,. 0.442308,.,. TACR3/intron/ 0.0000 0.9197 1.2100 6 Hypogonadotropic hypogonadism 11 with or without anosmia 0.000 dominant HG002 HG002 chr4:103621867:A:T 1,.,. 1.97556e-05 0 3 -1 -1 -1 TACR3 50_intron 49,.,. 0.530612,.,. TACR3/intron/ 0.0000 0.9197 1.2100 6 Hypogonadotropic hypogonadism 11 with or without anosmia 0.000 dominant HG002 HG002 chr4:103782739:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr4:103815987:G:A 1,.,. 6.57497e-06 0 1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr4:103827050:C:T 1,.,. 6.57324e-06 0 1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr4:103895290:T:G 1,.,. 6.57194e-06 0 1 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr4:103973521:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr4:103973523:G:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr4:104084795:A:G 1,.,. 6.57108e-06 0 1 -1 -1 -1 50,.,. 0.6,.,. dominant HG002 HG002 chr4:104190042:G:A 1,.,. 1.97634e-05 0 3 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr4:104887123:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr4:104986068:G:A 1,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.491525,.,. dominant HG002 HG002 chr4:105058698:A:C 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.509804,.,. dominant HG002 HG002 chr4:105422593:A:T 1,.,. -1 -1 -1 -1 -1 -1 PPA2 50_intron 31,.,. 0.516129,.,. PPA2/intron/;PPA2/non_coding/ 0.0000 0.9601 1.3240 7 Sudden cardiac failure, infantile;Sudden cardiac failure, alcohol-induced 0.000 dominant HG002 HG002 chr4:106100276:A:ATTTGTTCT 1,.,. -1 -1 -1 -1 -1 -1 TBCK 50_intron 37,.,. 0.432432,.,. TBCK/intron/;TBCK/non_coding/ 0.0000 0.8350 1.0620 5 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0.000 dominant HG002 HG002 chr4:106100277:C:A 1,.,. 6.57808e-06 0 1 -1 -1 -1 TBCK 50_intron 38,.,. 0.473684,.,. TBCK/intron/;TBCK/non_coding/ 0.0000 0.8350 1.0620 5 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0.000 dominant HG002 HG002 chr4:106100280:A:T 1,.,. -1 -1 -1 -1 -1 -1 TBCK 50_intron 38,.,. 0.473684,.,. TBCK/intron/;TBCK/non_coding/ 0.0000 0.8350 1.0620 5 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0.000 dominant HG002 HG002 chr4:106142204:A:C 1,.,. -1 -1 -1 -1 -1 -1 TBCK 50_intron 40,.,. 0.325,.,. TBCK/intron/;TBCK/non_coding/ 0.0000 0.8350 1.0620 5 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0.000 dominant HG002 HG002 chr4:106204920:C:T 1,.,. -1 -1 -1 0.000700771 0 2 TBCK 50_intron 41,.,. 0.439024,.,. TBCK/intron/;TBCK/non_coding/ 0.0000 0.8350 1.0620 5 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0.000 dominant HG002 HG002 chr4:106376275:A:ACACACT 1,.,. 0.000107991 0 2 -1 -1 -1 43,.,. 0.325581,.,. dominant HG002 HG002 chr4:106574983:G:T 1,.,. -1 -1 -1 0.000700771 0 2 43,.,. 0.395349,.,. dominant HG002 HG002 chr4:106703545:T:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.634146,.,. recessive HG002 HG002 chr4:106742645:A:ATG 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr4:106742647:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr4:106980941:TACA:T 1,.,. 2.62874e-05 0 4 -1 -1 -1 DKK2 50_intron 43,.,. 0.534884,.,. DKK2/intron/;DKK2/non_coding/ 0.6117 0.3749 0.6210 2 dominant HG002 HG002 chr4:107048321:AAAGAAAGAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 DKK2 50_intron 31,.,. 0.354839,.,. DKK2/intron/ 0.6117 0.3749 0.6210 2 recessive HG002 HG002 chr4:107053330:A:C 2,.,. -1 -1 -1 -1 -1 -1 DKK2 50_intron 35,.,. 1,.,. DKK2/intron/ 0.6117 0.3749 0.6210 2 recessive HG002 HG002 chr4:107150828:G:T 2,.,. 0.000100957 0 15 -1 -1 -1 DKK2 50_intron 25,.,. 1,.,. DKK2/intron/ 0.6117 0.3749 0.6210 2 dominant HG002 HG002 chr4:107341052:T:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr4:107341053:C:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr4:107341055:C:T 1,.,. 2.68557e-05 0 1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr4:107341059:AAATAAAAAGT:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr4:107490543:C:CAT 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr4:107490545:A:C 1,.,. 6.63693e-06 0 1 -1 -1 -1 42,.,. 0.595238,.,. recessive HG002 HG002 chr4:108180704:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr4:108359767:A:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr4:108499409:T:A 1,.,. 1.35549e-05 0 1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr4:108604536:A:AAGGG 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.431818,.,. dominant HG002 HG002 chr4:108690058:C:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr4:108960939:G:C 1,.,. -1 -1 -1 -1 -1 -1 COL25A1 50_intron 46,.,. 0.565217,.,. COL25A1/intron/ 0.0000 0.8256 1.0340 5 Fibrosis of extraocular muscles, congenital, 5 0.000 dominant HG002 HG002 chr4:109007550:CTTCCTCAAT:C 1,.,. -1 -1 -1 -1 -1 -1 COL25A1 50_intron 59,.,. 0.525424,.,. COL25A1/intron/ 0.0000 0.8256 1.0340 5 Fibrosis of extraocular muscles, congenital, 5 0.000 dominant HG002 HG002 chr4:109007561:T:A 1,.,. -1 -1 -1 -1 -1 -1 COL25A1 50_intron 60,.,. 0.516667,.,. COL25A1/intron/ 0.0000 0.8256 1.0340 5 Fibrosis of extraocular muscles, congenital, 5 0.000 dominant HG002 HG002 chr4:109720608:T:A 1,.,. -1 -1 -1 -1 -1 -1 PLA2G12A 50_intron 32,.,. 0.46875,.,. PLA2G12A/intron/ 0.0026 0.7538 1.3140 7 dominant HG002 HG002 chr4:110289294:AAG:A 1,.,. 2.62826e-05 0 4 -1 -1 -1 47,.,. 0.553191,.,. dominant HG002 HG002 chr4:110385727:T:TTTC 1,.,. -1 -1 -1 -1 -1 -1 ENPEP 53_non_coding 39,.,. 0.538462,.,. ENPEP/non_coding/ 0.0000 0.8570 1.0260 5 dominant HG002 HG002 chr4:110407362:A:G 1,.,. -1 -1 -1 -1 -1 -1 ENPEP 53_non_coding 26,.,. 0.5,.,. ENPEP/non_coding/ 0.0000 0.8570 1.0260 5 dominant HG002 HG002 chr4:110601946:A:C 1,.,. 2.62746e-05 0 4 -1 -1 -1 43,.,. 0.418605,.,. recessive HG002 HG002 chr4:110703188:A:T 2,.,. -1 -1 -1 0.00525578 0 15 47,.,. 1,.,. recessive HG002 HG002 chr4:110810983:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr4:111174699:G:GGAT 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr4:111174701:G:C 2,.,. 7.22961e-05 0 11 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr4:111188198:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.391304,.,. dominant HG002 HG002 chr4:111227104:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr4:111437048:AGCTTCTAGTC:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr4:111437059:A:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr4:111437878:T:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr4:111437879:C:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. recessive HG002 HG002 chr4:112277733:A:T 2,.,. 3.39559e-05 0 1 -1 -1 -1 TIFA 36_3_prime_utr 49,.,. 1,.,. TIFA/3_prime_utr/ENST00000361717 recessive HG002 HG002 chr4:112277734:C:T 2,.,. 3.40368e-05 0 1 -1 -1 -1 TIFA 36_3_prime_utr 49,.,. 1,.,. TIFA/3_prime_utr/ENST00000361717 dominant HG002 HG002 chr4:112486547:C:T 1,.,. 1.57238e-05 0 2 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr4:112715746:T:G 1,.,. 1.97218e-05 0 3 -1 -1 -1 25,.,. 0.44,.,. dominant HG002 HG002 chr4:113097850:G:A 1,.,. -1 -1 -1 0.00105116 0 3 ANK2 50_intron 44,.,. 0.318182,.,. ANK2/intron/ 1.0000 0.2253 0.2710 0 Cardiac arrhythmia, ankyrin-B-related 0.000 dominant HG002 HG002 chr4:113152094:A:G 1,.,. 1.24156e-05 0 1 -1 -1 -1 ANK2 50_intron 38,.,. 0.605263,.,. ANK2/intron/ 1.0000 0.2253 0.2710 0 Cardiac arrhythmia, ankyrin-B-related 0.000 dominant HG002 HG002 chr4:113159776:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 ANK2 50_intron 35,.,. 0.371429,.,. ANK2/intron/ 1.0000 0.2253 0.2710 0 Cardiac arrhythmia, ankyrin-B-related 0.000 dominant HG002 HG002 chr4:113175155:G:C 1,.,. -1 -1 -1 -1 -1 -1 ANK2 50_intron 45,.,. 0.555556,.,. ANK2/intron/;ANK2/non_coding/ 1.0000 0.2253 0.2710 0 Cardiac arrhythmia, ankyrin-B-related 0.000 dominant HG002 HG002 chr4:113244252:GAGTTCC:G 1,.,. -1 -1 -1 -1 -1 -1 ANK2 50_intron 43,.,. 0.395349,.,. ANK2/intron/ 1.0000 0.2253 0.2710 0 Cardiac arrhythmia, ankyrin-B-related 0.000 dominant HG002 HG002 chr4:113244260:A:T 1,.,. -1 -1 -1 -1 -1 -1 ANK2 50_intron 43,.,. 0.395349,.,. ANK2/intron/ 1.0000 0.2253 0.2710 0 Cardiac arrhythmia, ankyrin-B-related 0.000 dominant HG002 HG002 chr4:113244261:C:T 1,.,. -1 -1 -1 -1 -1 -1 ANK2 50_intron 43,.,. 0.395349,.,. ANK2/intron/ 1.0000 0.2253 0.2710 0 Cardiac arrhythmia, ankyrin-B-related 0.000 dominant HG002 HG002 chr4:113444005:T:C 1,.,. 7.4085e-05 0 2 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr4:113450234:G:A 1,.,. 6.61962e-06 0 1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr4:113852288:G:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. recessive HG002 HG002 chr4:114020526:A:ATATT 2,.,. 0.000380575 0 5 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr4:114020528:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr4:115160048:ATACCCC:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr4:115210620:A:T 1,.,. -1 -1 -1 0.000700771 0 2 48,.,. 0.520833,.,. dominant HG002 HG002 chr4:115788956:A:ATTAATAATACATATATAATATATAATACATATATAATATATATACATTCTTATATAT 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.382979,.,. recessive HG002 HG002 chr4:115820117:A:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr4:115820119:T:TCTTTC 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr4:115922431:T:TATATAC 1,.,. -1 -1 -1 -1 -1 -1 AC027613.1 53_non_coding 54,.,. 0.481481,.,. AC027613.1/non_coding/ dominant HG002 HG002 chr4:116501710:CTTTCTTCT:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.295455,.,. recessive HG002 HG002 chr4:116604183:T:C 2,.,. -1 -1 -1 0.000700771 0 2 44,.,. 1,.,. dominant HG002 HG002 chr4:116642273:T:C 1,.,. 6.60493e-06 0 1 -1 -1 -1 43,.,. 0.581395,.,. dominant HG002 HG002 chr4:116990056:A:AATAGT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.315789,.,. dominant HG002 HG002 chr4:116990057:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. dominant HG002 HG002 chr4:117463064:CTCTCTCTG:C 1,.,. 1.62038e-05 0 1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr4:117463078:C:G 1,.,. 2.50463e-05 0 1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr4:117662898:T:A 1,.,. 2.6322e-05 0 4 -1 -1 -1 42,.,. 0.595238,.,. recessive HG002 HG002 chr4:117732164:AATAATT:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. recessive HG002 HG002 chr4:117732175:C:T 2,.,. 0.00011731 0 9 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr4:117739985:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr4:118514663:A:G 1,.,. -1 -1 -1 -1 -1 -1 CEP170P1 53_non_coding 42,.,. 0.428571,.,. CEP170P1/non_coding/ dominant HG002 HG002 chr4:118565563:GGGATCTCACTAT:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr4:118565576:G:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr4:118565577:A:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr4:119213657:T:G 1,.,. -1 -1 -1 -1 -1 -1 USP53 50_intron 36,.,. 0.5,.,. USP53/non_coding/;USP53/intron/ 0.0000 0.7356 0.9070 4 Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 0.000 dominant HG002 HG002 chr4:119350552:TGA:T 1,.,. -1 -1 -1 -1 -1 -1 KLHL2P1 53_non_coding 42,.,. 0.547619,.,. KLHL2P1/non_coding/ dominant HG002 HG002 chr4:119393064:A:AACACACAC 1,.,. -1 -1 -1 -1 -1 -1 AC110373.1 53_non_coding 29,.,. 0.413793,.,. AC110373.1/non_coding/ dominant HG002 HG002 chr4:119480587:G:A 1,.,. 1.97202e-05 0 3 -1 -1 -1 AC093752.1 53_non_coding 52,.,. 0.557692,.,. AC093752.1/non_coding/ dominant HG002 HG002 chr4:119534320:AGAATTACTG:A 1,.,. -1 -1 -1 -1 -1 -1 AC093752.1;PDE5A 50_intron 28,.,. 0.535714,.,. AC093752.1/non_coding/;PDE5A/intron/ 0.0065 0.4891 0.7040 2 dominant HG002 HG002 chr4:119534331:C:A 1,.,. -1 -1 -1 -1 -1 -1 AC093752.1;PDE5A 50_intron 27,.,. 0.518519,.,. AC093752.1/non_coding/;PDE5A/intron/ 0.0065 0.4891 0.7040 2 dominant HG002 HG002 chr4:119534332:T:G 1,.,. -1 -1 -1 -1 -1 -1 AC093752.1;PDE5A 50_intron 27,.,. 0.518519,.,. AC093752.1/non_coding/;PDE5A/intron/ 0.0065 0.4891 0.7040 2 dominant HG002 HG002 chr4:119583484:T:TCTTACA 1,.,. -1 -1 -1 -1 -1 -1 PDE5A 50_intron 37,.,. 0.486486,.,. PDE5A/intron/ 0.0065 0.4891 0.7040 2 dominant HG002 HG002 chr4:119583486:G:T 1,.,. -1 -1 -1 -1 -1 -1 PDE5A 50_intron 37,.,. 0.486486,.,. PDE5A/intron/ 0.0065 0.4891 0.7040 2 dominant HG002 HG002 chr4:119583487:C:T 1,.,. -1 -1 -1 -1 -1 -1 PDE5A 50_intron 37,.,. 0.486486,.,. PDE5A/intron/ 0.0065 0.4891 0.7040 2 dominant HG002 HG002 chr4:119644908:AAGTCTG:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr4:119666436:A:AT 1,.,. 1.97174e-05 0 3 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr4:119756175:T:TGTGC 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr4:119935690:A:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. recessive HG002 HG002 chr4:120013043:A:G 2,.,. 0.00174723 0 204 0.00210231 0 6 57,.,. 1,.,. dominant HG002 HG002 chr4:120130428:G:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5625,.,. dominant HG002 HG002 chr4:120217523:A:G 1,.,. 6.57099e-06 0 1 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr4:120734254:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 PRDM5 50_intron 46,.,. 0.413043,.,. PRDM5/intron/;PRDM5/non_coding/ 0.0000 0.7086 0.8990 4 Brittle cornea syndrome 2 0.000 dominant HG002 HG002 chr4:121124836:A:AAAG 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.241379,.,. dominant HG002 HG002 chr4:121239627:C:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr4:121380208:A:G 1,.,. -1 -1 -1 -1 -1 -1 QRFPR 50_intron 36,.,. 0.527778,.,. QRFPR/intron/;QRFPR/non_coding/ 0.0000 1.1299 1.5320 8 dominant HG002 HG002 chr4:121412328:C:T 1,.,. 1.31468e-05 0 2 -1 -1 -1 43,.,. 0.581395,.,. dominant HG002 HG002 chr4:121659776:TCTGCCTAC:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr4:121659785:T:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr4:121694103:GGGGGGGA:G 1,.,. 2.23784e-05 0 2 -1 -1 -1 ANXA5 50_intron 36,.,. 0.472222,.,. ANXA5/intron/;ANXA5/non_coding/ 0.0000 1.0420 1.4650 8 Pregnancy loss, recurrent, susceptibility to, 3 0.000 recessive HG002 HG002 chr4:121694117:A:G 2,.,. -1 -1 -1 -1 -1 -1 ANXA5 50_intron 37,.,. 1,.,. ANXA5/intron/;ANXA5/non_coding/ 0.0000 1.0420 1.4650 8 Pregnancy loss, recurrent, susceptibility to, 3 0.000 dominant HG002 HG002 chr4:122180047:C:T 1,.,. 6.9808e-05 0 4 -1 -1 -1 KIAA1109 50_intron 53,.,. 0.320755,.,. KIAA1109/intron/ 0.0000 0.5172 0.5790 1 recessive HG002 HG002 chr4:122587016:A:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr4:122587017:T:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr4:122915604:C:G 1,.,. -1 -1 -1 -1 -1 -1 NUDT6 50_intron 41,.,. 0.487805,.,. NUDT6/intron/;NUDT6/non_coding/ 0.0002 0.7185 1.1060 6 recessive HG002 HG002 chr4:123016078:C:T 2,.,. -1 -1 -1 -1 -1 -1 SPATA5 50_intron 35,.,. 1,.,. SPATA5/intron/;SPATA5/non_coding/ 0.0000 0.7112 0.8770 4 0.000 recessive HG002 HG002 chr4:123017175:AGGG:A 2,.,. 0.00195997 2 113 0.00105116 1 3 SPATA5 50_intron 38,.,. 1,.,. SPATA5/intron/;SPATA5/non_coding/ 0.0000 0.7112 0.8770 4 0.000 dominant HG002 HG002 chr4:123058888:T:C 1,.,. -1 -1 -1 -1 -1 -1 SPATA5 50_intron 42,.,. 0.380952,.,. SPATA5/intron/;SPATA5/non_coding/ 0.0000 0.7112 0.8770 4 0.000 dominant HG002 HG002 chr4:124001990:A:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.384615,.,. dominant HG002 HG002 chr4:124031860:ACTAT:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr4:124031865:C:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr4:124142363:CATGT:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr4:124416982:C:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. recessive HG002 HG002 chr4:124595737:T:TCTATA 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr4:124654481:G:GGGGGT 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.423077,.,. dominant HG002 HG002 chr4:124753641:T:TTATATA 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.34375,.,. dominant HG002 HG002 chr4:125564710:CCGTCA:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr4:125564716:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr4:125615373:A:G 1,.,. 6.57272e-06 0 1 -1 -1 -1 46,.,. 0.413043,.,. dominant HG002 HG002 chr4:125649348:G:A 1,.,. 6.57073e-06 0 1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr4:125762373:AATGTCC:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr4:125762382:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. recessive HG002 HG002 chr4:125922245:AAACAAAAGAAACAAAAG:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr4:125922264:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr4:125922265:T:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr4:126083398:T:A 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.534483,.,. dominant HG002 HG002 chr4:126106127:C:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.470588,.,. recessive HG002 HG002 chr4:126492233:A:C 2,.,. -1 -1 -1 0.00700771 0 20 44,.,. 1,.,. dominant HG002 HG002 chr4:126511120:TAATAAG:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.589744,.,. dominant HG002 HG002 chr4:126511127:A:G 1,.,. 1.37977e-05 0 2 -1 -1 -1 39,.,. 0.589744,.,. dominant HG002 HG002 chr4:126559910:T:C 1,.,. 6.57367e-06 0 1 -1 -1 -1 54,.,. 0.574074,.,. dominant HG002 HG002 chr4:126777716:C:A 1,.,. 3.85356e-05 0 1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr4:126929470:A:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.509804,.,. dominant HG002 HG002 chr4:127024280:G:A 1,.,. -1 -1 -1 0.00105116 0 3 43,.,. 0.534884,.,. dominant HG002 HG002 chr4:127458639:GTA:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr4:127458646:T:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr4:127458650:GCAATGGGATTGCTGGGTT:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr4:127458669:A:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr4:128088200:A:AATG 1,.,. -1 -1 -1 -1 -1 -1 LARP1B 50_intron 41,.,. 0.560976,.,. LARP1B/intron/ 0.0000 0.7439 0.9350 4 recessive HG002 HG002 chr4:128261324:C:T 2,.,. 0.00480161 4 729 0.0024527 0 7 37,.,. 1,.,. dominant HG002 HG002 chr4:128387854:T:G 1,.,. 6.56961e-06 0 1 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr4:128705233:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr4:128749666:T:TTTTAA 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.423077,.,. dominant HG002 HG002 chr4:128749680:AATTTT:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr4:128785226:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr4:129164220:TCAATTAA:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.56,.,. dominant HG002 HG002 chr4:129164228:C:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.571429,.,. dominant HG002 HG002 chr4:129222380:A:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr4:129222383:T:TAGATATATAGA 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr4:129222384:G:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr4:129799111:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.6,.,. dominant HG002 HG002 chr4:130122785:AAC:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.391304,.,. dominant HG002 HG002 chr4:130226398:T:C 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.5,.,. dominant HG002 HG002 chr4:130367089:T:A 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.518519,.,. dominant HG002 HG002 chr4:130525315:A:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr4:130525320:A:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr4:131061486:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr4:131414470:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr4:131468832:T:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr4:131591614:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr4:131596165:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr4:131671566:A:AAATATCTG 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.71875,.,. dominant HG002 HG002 chr4:131671568:G:A 1,.,. 6.59065e-06 0 1 -1 -1 -1 32,.,. 0.71875,.,. dominant HG002 HG002 chr4:131798019:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr4:132014040:A:G 1,.,. 1.97166e-05 0 3 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr4:132508776:TGCAACCTCTGCCTCCC:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.54902,.,. dominant HG002 HG002 chr4:132508793:A:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.557692,.,. dominant HG002 HG002 chr4:132668123:G:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr4:132668745:G:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr4:132682305:TATAC:T 1,.,. 6.75493e-05 0 1 -1 -1 -1 35,.,. 0.542857,.,. recessive HG002 HG002 chr4:132903732:A:T 2,.,. 0.00224825 0 38 0.00105116 0 3 43,.,. 1,.,. dominant HG002 HG002 chr4:133184488:T:G 1,.,. -1 -1 -1 -1 -1 -1 PCDH10 50_intron 41,.,. 0.536585,.,. PCDH10/intron/;PCDH10/non_coding/ 1.0000 0.1832 0.2970 0 dominant HG002 HG002 chr4:133216791:AC:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr4:133320988:T:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.611111,.,. dominant HG002 HG002 chr4:133447885:G:T 1,.,. 7.24102e-06 0 1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr4:133447886:AAAATTTCCTTATGTTAC:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr4:133447906:A:C 1,.,. 7.23809e-06 0 1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr4:134028152:G:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.571429,.,. dominant HG002 HG002 chr4:134213941:T:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr4:134314167:G:A 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.509804,.,. dominant HG002 HG002 chr4:134351458:AGAGT:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr4:134351465:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. recessive HG002 HG002 chr4:134446641:A:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr4:134446643:G:T 2,.,. 6.58935e-06 0 1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr4:134511878:T:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr4:134511883:CAATTACTGGTAAAATATTTTATTTTTTTAATTTTTACATAAACTTATAGACATGAGCTAGAATTCTTCCCAAAACCTTGGAACATGCATAATAAGGGACGAGCCTAGAGGCCAAACTCTATTACTTTTAGAGTCAATATATCTCTGACCAACAGTCATCTTAAATTTTGCTTTTCTTTCCTACACCCATCAAGCCCTTCTGTTAAAGAGGATCCATGTACATATAAAAAAATGAAAAGTAAAGATTAATGTACCTATGGGCAGAAAACTGGAGATATTCTGCTGGGAATATTATAAAAAGCAAAACGTGAGGCAGCACAGTACCCTGGAATGGACTGGGAAATAGAAGCGAGAGAT:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr4:134512243:TG:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr4:134514194:G:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr4:134514197:A:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr4:134514198:GACACAA:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr4:134514205:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr4:134514212:G:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr4:134514218:A:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr4:134514219:G:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr4:134514222:A:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr4:134514237:CTAAAAAATAATAGAATGTAGCAGAGAGAGGCAAGAAGTTGGAAAACATAGAATCTATAACAGACAAAATACAGTTTGAGGAAAGGAAAACTATTCGCCCCTGGCAGAATCTCATATTGGCTGAAAAATCTGAGATACAGAAAGAAATGAAGACCAAAGAAGGTTACAAATACAAAGCTAAATATCTCAAACACTCATTTTATAAAATAATAAAAATGTTTCATGAAATGTAGTAAAAGTCAGATGTTAGGTTAACTAGCTAGTTTATGGTAATTGTTTCATGATGTATACATATATCAAACCATCACA:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chr4:134570847:G:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr4:134672363:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. recessive HG002 HG002 chr4:134916227:A:ACTGC 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr4:134916232:T:A 2,.,. 0.000119107 0 18 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr4:135431055:C:A 1,.,. 6.58155e-06 0 1 -1 -1 -1 36,.,. 0.416667,.,. recessive HG002 HG002 chr4:135464482:G:A 2,.,. -1 -1 -1 0.00560617 0 16 42,.,. 1,.,. dominant HG002 HG002 chr4:135637110:T:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.357143,.,. dominant HG002 HG002 chr4:135653320:GAT:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr4:135653324:T:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr4:135653325:A:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr4:136031336:G:C 1,.,. 1.81192e-05 0 1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr4:136031337:TCATAAGG:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr4:136031345:A:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr4:136124981:T:G 1,.,. 1.28228e-05 0 1 -1 -1 -1 52,.,. 0.480769,.,. dominant HG002 HG002 chr4:136396656:T:TTGAA 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr4:136396659:T:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr4:136793287:C:T 1,.,. 0.0013624 0 1 -1 -1 -1 50,.,. 0.46,.,. dominant HG002 HG002 chr4:137481938:G:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr4:137791003:C:CACAT 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr4:138046064:G:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.384615,.,. dominant HG002 HG002 chr4:138625310:G:T 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.535714,.,. dominant HG002 HG002 chr4:138625311:T:A 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.535714,.,. dominant HG002 HG002 chr4:138625312:TAGCTG:T 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.535714,.,. dominant HG002 HG002 chr4:138691845:T:TATATATAC 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.333333,.,. dominant HG002 HG002 chr4:138787910:C:T 1,.,. 6.57125e-06 0 1 -1 -1 -1 39,.,. 0.564103,.,. recessive HG002 HG002 chr4:138793675:A:AAGAAAG 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr4:138943135:TGGGAGG:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr4:138943142:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. dominant HG002 HG002 chr4:139261147:G:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.333333,.,. dominant HG002 HG002 chr4:139583244:C:T 1,.,. -1 -1 -1 -1 -1 -1 SETD7 50_intron 28,.,. 0.392857,.,. SETD7/intron/ 0.6482 0.3737 0.6050 2 dominant HG002 HG002 chr4:139666114:GTGCGTGT:G 1,.,. -1 -1 -1 -1 -1 -1 MGST2 50_intron 30,.,. 0.4,.,. MGST2/intron/;MGST2/non_coding/ 0.2193 0.4449 0.9350 4 dominant HG002 HG002 chr4:139889942:C:T 1,.,. -1 -1 -1 -1 -1 -1 MAML3 20_splice_region 40,.,. 0.5,.,. MAML3/synonymous/ENST00000509479;MAML3/splice_region/ENST00000398940 1.0000 0.2325 0.3270 0 recessive HG002 HG002 chr4:140078016:C:CAAATAAAT 2,.,. 0.00096 0 6 -1 -1 -1 MAML3 50_intron 27,.,. 1,.,. MAML3/intron/ 1.0000 0.2325 0.3270 0 dominant HG002 HG002 chr4:140609648:T:C 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.392157,.,. dominant HG002 HG002 chr4:140896710:AAACAAAC:A 1,.,. 1.88644e-05 0 1 -1 -1 -1 RNF150 50_intron 43,.,. 0.488372,.,. RNF150/intron/ 0.0000 0.6826 0.9830 4 dominant HG002 HG002 chr4:140910703:CAG:C 1,.,. -1 -1 -1 -1 -1 -1 RNF150 50_intron 43,.,. 0.348837,.,. RNF150/intron/ 0.0000 0.6826 0.9830 4 dominant HG002 HG002 chr4:140910706:T:G 1,.,. -1 -1 -1 -1 -1 -1 RNF150 50_intron 42,.,. 0.333333,.,. RNF150/intron/ 0.0000 0.6826 0.9830 4 recessive HG002 HG002 chr4:140921387:C:G 2,.,. -1 -1 -1 -1 -1 -1 RNF150 50_intron 27,.,. 1,.,. RNF150/intron/ 0.0000 0.6826 0.9830 4 recessive HG002 HG002 chr4:140921388:G:A 2,.,. -1 -1 -1 -1 -1 -1 RNF150 50_intron 26,.,. 1,.,. RNF150/intron/ 0.0000 0.6826 0.9830 4 recessive HG002 HG002 chr4:140921389:A:G 2,.,. -1 -1 -1 -1 -1 -1 RNF150 50_intron 27,.,. 1,.,. RNF150/intron/ 0.0000 0.6826 0.9830 4 dominant HG002 HG002 chr4:141177482:C:T 1,.,. -1 -1 -1 -1 -1 -1 RNF150 50_intron 45,.,. 0.422222,.,. RNF150/intron/ 0.0000 0.6826 0.9830 4 dominant HG002 HG002 chr4:141201094:A:ACTCACATGAATTAGTT 1,.,. -1 -1 -1 -1 -1 -1 RNF150 50_intron 46,.,. 0.586957,.,. RNF150/intron/ 0.0000 0.6826 0.9830 4 dominant HG002 HG002 chr4:141201095:T:A 1,.,. -1 -1 -1 -1 -1 -1 RNF150 50_intron 46,.,. 0.586957,.,. RNF150/intron/ 0.0000 0.6826 0.9830 4 dominant HG002 HG002 chr4:141447901:A:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr4:141527101:TACATAA:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.571429,.,. dominant HG002 HG002 chr4:141527109:C:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.58,.,. dominant HG002 HG002 chr4:141535585:ACTT:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr4:141535590:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr4:142330453:A:G 1,.,. 1.31425e-05 0 2 -1 -1 -1 INPP4B 50_intron 47,.,. 0.382979,.,. INPP4B/intron/ 0.0045 0.4688 0.6390 2 dominant HG002 HG002 chr4:142806763:AGAAGAAAGAAAGAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 INPP4B 50_intron 42,.,. 0.309524,.,. INPP4B/intron/;INPP4B/non_coding/ 0.0045 0.4688 0.6390 2 dominant HG002 HG002 chr4:143892760:G:T 1,.,. -1 -1 -1 0.000700771 0 2 GYPE 50_intron 39,.,. 0.564103,.,. GYPE/intron/ 0.2651 0.4346 1.1210 6 dominant HG002 HG002 chr4:144374038:G:A 1,.,. -1 -1 -1 -1 -1 -1 AC098588.2 50_intron 59,.,. 0.491525,.,. AC098588.2/intron/ dominant HG002 HG002 chr4:145098323:G:T 1,.,. 6.56814e-06 0 1 -1 -1 -1 ANAPC10;ABCE1 35_5_prime_utr 33,.,. 0.454545,.,. ANAPC10/5_prime_utr/ENST00000613466;ANAPC10/5_prime_utr/ENST00000514390;ABCE1/5_prime_utr/ENST00000502586;ABCE1/5_prime_utr&NMD_transcript/ENST00000507193;ABCE1/5_prime_utr/ENST00000296577 0.5158;;0.9965 0.3338;;0.3023 0.8630;;0.4660 3;;1 dominant HG002 HG002 chr4:145117438:A:C 1,.,. -1 -1 -1 -1 -1 -1 ABCE1 50_intron 50,.,. 0.52,.,. ABCE1/intron/;ABCE1/non_coding/ 0.9965 0.3023 0.4660 1 dominant HG002 HG002 chr4:145181554:A:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr4:145321366:TATATAA:T 1,.,. 0.000117601 0 3 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr4:145442874:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr4:145973613:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr4:145973614:C:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr4:146095217:C:G 1,.,. 1.31574e-05 0 2 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr4:146356049:A:AATAT 1,.,. -1 -1 -1 -1 -1 -1 SLC10A7 50_intron 36,.,. 0.361111,.,. SLC10A7/intron/;SLC10A7/non_coding/ 0.0000 0.6706 0.9660 4 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 0.000 dominant HG002 HG002 chr4:146933890:A:ACTTGCT 1,.,. -1 -1 -1 -1 -1 -1 TTC29 50_intron 54,.,. 0.574074,.,. TTC29/intron/ 0.0000 0.6260 0.8870 4 Spermatogenic failure 42 0.000 dominant HG002 HG002 chr4:146933891:T:A 1,.,. -1 -1 -1 -1 -1 -1 TTC29 50_intron 54,.,. 0.574074,.,. TTC29/intron/ 0.0000 0.6260 0.8870 4 Spermatogenic failure 42 0.000 recessive HG002 HG002 chr4:147259267:A:ATGTATC 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr4:147259269:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr4:147259270:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr4:147898183:A:T 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP10 50_intron 42,.,. 1,.,. ARHGAP10/intron/;ARHGAP10/non_coding/ 0.0000 0.7309 0.8940 4 recessive HG002 HG002 chr4:147898184:G:A 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP10 50_intron 43,.,. 1,.,. ARHGAP10/intron/;ARHGAP10/non_coding/ 0.0000 0.7309 0.8940 4 recessive HG002 HG002 chr4:147898187:T:TTGA 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP10 50_intron 43,.,. 1,.,. ARHGAP10/intron/;ARHGAP10/non_coding/ 0.0000 0.7309 0.8940 4 dominant HG002 HG002 chr4:148233336:T:C 1,.,. -1 -1 -1 -1 -1 -1 NR3C2 50_intron 44,.,. 0.568182,.,. NR3C2/intron/;NR3C2/non_coding/ 1.0000 0.1743 0.2680 0 Autosomal dominant pseudohypoaldosteronism type 1;Pseudohyperaldosteronism type 2 0.000 dominant HG002 HG002 chr4:148278116:G:T 1,.,. 0.000101353 0 4 -1 -1 -1 NR3C2 50_intron 41,.,. 0.463415,.,. NR3C2/intron/;NR3C2/non_coding/ 1.0000 0.1743 0.2680 0 Autosomal dominant pseudohypoaldosteronism type 1;Pseudohyperaldosteronism type 2 0.000 dominant HG002 HG002 chr4:148703930:A:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr4:148775704:G:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr4:148777241:T:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr4:148790199:TGGCTTGAGA:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr4:148790210:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr4:149266767:C:CCAGATGAATTCT 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.617647,.,. dominant HG002 HG002 chr4:149266768:T:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.617647,.,. dominant HG002 HG002 chr4:149368880:G:GTATATATATGTATATATATACACGTGTA 1,.,. -1 -1 -1 -1 -1 -1 IQCM 50_intron 41,.,. 0.317073,.,. IQCM/intron/ 0.0000 0.9180 1.3610 7 dominant HG002 HG002 chr4:149626428:C:CTTCTAATCCT 1,.,. -1 -1 -1 -1 -1 -1 IQCM 50_intron 38,.,. 0.368421,.,. IQCM/intron/;IQCM/non_coding/ 0.0000 0.9180 1.3610 7 dominant HG002 HG002 chr4:149626430:A:T 1,.,. -1 -1 -1 -1 -1 -1 IQCM 50_intron 39,.,. 0.435897,.,. IQCM/intron/;IQCM/non_coding/ 0.0000 0.9180 1.3610 7 dominant HG002 HG002 chr4:149884932:G:T 1,.,. -1 -1 -1 -1 -1 -1 IQCM 53_non_coding 41,.,. 0.414634,.,. IQCM/non_coding/ 0.0000 0.9180 1.3610 7 dominant HG002 HG002 chr4:150157517:G:T 1,.,. -1 -1 -1 -1 -1 -1 DCLK2 50_intron 31,.,. 0.451613,.,. DCLK2/intron/ 0.8448 0.3784 0.5250 1 dominant HG002 HG002 chr4:150357663:T:TA 1,.,. -1 -1 -1 0.00140154 1 4 LRBA 50_intron 36,.,. 0.444444,.,. LRBA/intron/;LRBA/non_coding/ 0.0100 0.4248 0.5150 1 Combined immunodeficiency due to LRBA deficiency 0.000 dominant HG002 HG002 chr4:150421122:A:T 1,.,. -1 -1 -1 -1 -1 -1 LRBA 50_intron 39,.,. 0.512821,.,. LRBA/intron/;LRBA/non_coding/ 0.0100 0.4248 0.5150 1 Combined immunodeficiency due to LRBA deficiency 0.000 dominant HG002 HG002 chr4:150559844:ATAATAATATATAATTATAT:A 1,.,. -1 -1 -1 -1 -1 -1 LRBA 50_intron 36,.,. 0.555556,.,. LRBA/intron/;LRBA/non_coding/ 0.0100 0.4248 0.5150 1 Combined immunodeficiency due to LRBA deficiency 0.000 dominant HG002 HG002 chr4:150748903:G:A 1,.,. -1 -1 -1 -1 -1 -1 LRBA 50_intron 46,.,. 0.478261,.,. LRBA/intron/ 0.0100 0.4248 0.5150 1 Combined immunodeficiency due to LRBA deficiency 0.000 recessive HG002 HG002 chr4:151105129:T:C 2,.,. -1 -1 -1 -1 -1 -1 SH3D19 53_non_coding 32,.,. 1,.,. SH3D19/non_coding/ 0.0008 0.4760 0.6290 2 dominant HG002 HG002 chr4:151275840:TTATTA:T 1,.,. -1 -1 -1 -1 -1 -1 SH3D19 50_intron 46,.,. 0.456522,.,. SH3D19/intron/ 0.0008 0.4760 0.6290 2 dominant HG002 HG002 chr4:151452951:T:TATATACATAC 1,.,. 8.38111e-06 0 1 -1 -1 -1 FAM160A1 50_intron 46,.,. 0.478261,.,. FAM160A1/intron/;FAM160A1/non_coding/ dominant HG002 HG002 chr4:151989111:T:TAATGAATG 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr4:152108822:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.675676,.,. dominant HG002 HG002 chr4:152804304:A:T 1,.,. -1 -1 -1 -1 -1 -1 ARFIP1 50_intron 45,.,. 0.4,.,. ARFIP1/intron/;ARFIP1/non_coding/ 0.0017 0.5720 0.8690 4 dominant HG002 HG002 chr4:153171647:AAGAT:A 1,.,. -1 -1 -1 -1 -1 -1 TRIM2 50_intron 22,.,. 0.545455,.,. TRIM2/intron/ 1.0000 0.2684 0.3980 0 Charcot-Marie-Tooth disease type 2R 0.000 dominant HG002 HG002 chr4:153171652:A:G 1,.,. -1 -1 -1 -1 -1 -1 TRIM2 50_intron 22,.,. 0.545455,.,. TRIM2/intron/ 1.0000 0.2684 0.3980 0 Charcot-Marie-Tooth disease type 2R 0.000 dominant HG002 HG002 chr4:153279962:AG:A 1,.,. 2.03564e-05 0 3 -1 -1 -1 TRIM2;AC013477.2 50_intron 35,.,. 0.628571,.,. TRIM2/intron/;AC013477.2/intron/;TRIM2/non_coding/ 1.0000 0.2684 0.3980 0 Charcot-Marie-Tooth disease type 2R 0.000 dominant HG002 HG002 chr4:153462959:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr4:153902068:C:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr4:153959656:G:A 1,.,. 1.53822e-05 0 2 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr4:153959657:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr4:153959658:TGGTA:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr4:153959663:C:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr4:154667150:C:G 1,.,. -1 -1 -1 -1 -1 -1 LRAT 50_intron 55,.,. 0.436364,.,. LRAT/non_coding/;LRAT/intron/ 0.0011 0.7338 1.2140 6 Leber congenital amaurosis 14 0.000 dominant HG002 HG002 chr4:154667288:G:T 1,.,. -1 -1 -1 -1 -1 -1 LRAT 50_intron 54,.,. 0.425926,.,. LRAT/non_coding/;LRAT/intron/ 0.0011 0.7338 1.2140 6 Leber congenital amaurosis 14 0.000 recessive HG002 HG002 chr4:154850279:A:AAGGATCTTTGACCCTTGAACTGGATGCTTAGTTTATCTTATGTCAATTCTACTTGTGTAC 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr4:154850281:A:AGTT 2,.,. 6.60912e-06 0 1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr4:155192171:CAGGATT:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr4:155192179:T:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr4:155192180:T:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr4:155279535:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr4:155285251:G:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.479167,.,. recessive HG002 HG002 chr4:155721179:ATTTGGGCCCAGGGG:A 2,.,. -1 -1 -1 -1 -1 -1 GUCY1A1 50_intron 29,.,. 1,.,. GUCY1A1/intron/ 0.0000 0.7074 0.9590 4 Moyamoya disease with early-onset achalasia 0.000 recessive HG002 HG002 chr4:155721197:G:A 2,.,. 5.38213e-05 0 3 -1 -1 -1 GUCY1A1 50_intron 29,.,. 1,.,. GUCY1A1/intron/ 0.0000 0.7074 0.9590 4 Moyamoya disease with early-onset achalasia 0.000 dominant HG002 HG002 chr4:155747967:C:G 1,.,. -1 -1 -1 0.000700771 0 2 49,.,. 0.44898,.,. dominant HG002 HG002 chr4:155882640:C:CAAAGATCTCTT 1,.,. -1 -1 -1 -1 -1 -1 TDO2 50_intron 47,.,. 0.531915,.,. TDO2/non_coding/;TDO2/intron/ 0.0000 0.8451 1.1040 6 Familial hypertryptophanemia 0.000 dominant HG002 HG002 chr4:155882641:C:G 1,.,. -1 -1 -1 -1 -1 -1 TDO2 50_intron 47,.,. 0.531915,.,. TDO2/non_coding/;TDO2/intron/ 0.0000 0.8451 1.1040 6 Familial hypertryptophanemia 0.000 dominant HG002 HG002 chr4:156084231:T:TAAAAA 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr4:156084235:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.560976,.,. recessive HG002 HG002 chr4:156092965:A:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr4:157529593:C:CTACCATT 2,.,. 0.000348432 0 1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr4:157529597:A:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr4:157542174:TTTTTTTTTTTGA:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr4:157542187:C:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr4:157569950:G:A 1,.,. 6.57272e-06 0 1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr4:157700071:A:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.391304,.,. dominant HG002 HG002 chr4:157704548:G:GCTATATATTTAA 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.630435,.,. dominant HG002 HG002 chr4:157704558:T:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.652174,.,. recessive HG002 HG002 chr4:157797794:AGGCT:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr4:157797800:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr4:157830505:TGAATTAATTTAG:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr4:157830519:T:G 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. dominant HG002 HG002 chr4:157884876:G:GT 1,.,. 6.58293e-06 0 1 -1 -1 -1 43,.,. 0.55814,.,. recessive HG002 HG002 chr4:157982646:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr4:157999432:T:C 1,.,. 1.31707e-05 0 2 -1 -1 -1 55,.,. 0.563636,.,. recessive HG002 HG002 chr4:158106860:G:T 2,.,. 2.89314e-05 0 4 0.0122635 3 35 42,.,. 1,.,. recessive HG002 HG002 chr4:158531916:GTATT:G 2,.,. -1 -1 -1 -1 -1 -1 RXFP1 50_intron 38,.,. 1,.,. RXFP1/intron/;RXFP1/non_coding/ 0.0000 0.7256 0.9660 4 recessive HG002 HG002 chr4:158531923:G:T 2,.,. -1 -1 -1 -1 -1 -1 RXFP1 50_intron 43,.,. 1,.,. RXFP1/intron/;RXFP1/non_coding/ 0.0000 0.7256 0.9660 4 recessive HG002 HG002 chr4:158949564:G:C 2,.,. -1 -1 -1 -1 -1 -1 C4orf45 50_intron 35,.,. 1,.,. C4orf45/intron/;C4orf45/non_coding/ 0.0000 1.2774 1.7950 8 recessive HG002 HG002 chr4:159061110:C:T 2,.,. -1 -1 -1 0.000700771 0 2 33,.,. 1,.,. recessive HG002 HG002 chr4:159061112:T:C 2,.,. 3.89772e-05 0 2 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr4:159066622:G:A 2,.,. 0.0122868 1 134 0.000700771 0 2 31,.,. 1,.,. dominant HG002 HG002 chr4:159365840:AGGAGCAGAAGTTG:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr4:159806370:A:C 1,.,. -1 -1 -1 0.00105116 0 3 47,.,. 0.531915,.,. dominant HG002 HG002 chr4:160319165:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.606061,.,. dominant HG002 HG002 chr4:160319167:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.606061,.,. dominant HG002 HG002 chr4:160319168:T:TATGTATTATG 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.606061,.,. dominant HG002 HG002 chr4:160572530:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr4:160828056:T:C 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.508772,.,. dominant HG002 HG002 chr4:161067705:T:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.404255,.,. recessive HG002 HG002 chr4:161132111:T:TAG 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132122:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132128:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132129:CA:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132134:A:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132135:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132136:A:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132138:T:TTTTAAGTTTC 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr4:161132142:T:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132155:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132162:A:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132172:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132173:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132176:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132179:CAG:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132186:T:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr4:161132189:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr4:161132194:A:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132198:C:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr4:161132199:C:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr4:161132202:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132206:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:161132228:ATTTTGTAGTCCAAGCAGAAATAATTTGGTTCCCAGTAACTTAATGTTACATAAAATATGGAGTAATATACTCTCCCACACATCACCTTAGACCTTCAAGGAATGGGAATCTTTATAGAAAGGAATGTCATGCATGAGTAAAAACAAATACAAATTTCAGATTTGTATTAATTATTGCCTTTTTGCTGAAATAGTTGCTACCAAAAAACCAGGTTGTTTTCCTGAGTCTATTTACTCATGGTTTTAAACAGCAGGTGGCCAAAGATTAATGGTTGCTGCTT:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chr4:161289878:G:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr4:161380250:C:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr4:161982005:C:T 1,.,. -1 -1 -1 -1 -1 -1 FSTL5 50_intron 46,.,. 0.478261,.,. FSTL5/intron/ 0.0020 0.5246 0.7620 3 dominant HG002 HG002 chr4:162145995:T:TAG 1,.,. -1 -1 -1 -1 -1 -1 FSTL5 50_intron 46,.,. 0.521739,.,. FSTL5/intron/ 0.0020 0.5246 0.7620 3 dominant HG002 HG002 chr4:162376586:T:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.425532,.,. dominant HG002 HG002 chr4:162441359:ACTAAGTATTTTAGTC:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr4:162441377:T:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr4:162441378:T:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr4:162441379:T:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr4:163269287:T:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr4:163854380:A:G 1,.,. 6.56996e-06 0 1 -1 -1 -1 MARCHF1 50_intron 48,.,. 0.541667,.,. MARCHF1/intron/;MARCHF1/non_coding/ 0.0000 0.6515 0.8670 4 dominant HG002 HG002 chr4:164146424:AC:A 1,.,. -1 -1 -1 -1 -1 -1 MARCHF1 50_intron 47,.,. 0.489362,.,. MARCHF1/intron/;MARCHF1/non_coding/ 0.0000 0.6515 0.8670 4 dominant HG002 HG002 chr4:164146427:A:T 1,.,. -1 -1 -1 -1 -1 -1 MARCHF1 50_intron 48,.,. 0.5,.,. MARCHF1/intron/;MARCHF1/non_coding/ 0.0000 0.6515 0.8670 4 dominant HG002 HG002 chr4:164146463:A:T 1,.,. -1 -1 -1 -1 -1 -1 MARCHF1 50_intron 48,.,. 0.5,.,. MARCHF1/intron/;MARCHF1/non_coding/ 0.0000 0.6515 0.8670 4 dominant HG002 HG002 chr4:164439272:G:T 1,.,. 1.97246e-05 0 3 -1 -1 -1 39,.,. 0.615385,.,. recessive HG002 HG002 chr4:164450156:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:164450157:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr4:164450158:G:A 2,.,. 0.000111657 0 2 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr4:164839429:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr4:164905770:A:AAAGGTCAGC 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr4:164905771:C:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr4:165039028:C:T 1,.,. -1 -1 -1 -1 -1 -1 TRIM60 50_intron 31,.,. 0.451613,.,. TRIM60/intron/ 0.3149 0.0000 1.8700 9 dominant HG002 HG002 chr4:165415763:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 CPE 50_intron 48,.,. 0.520833,.,. CPE/intron/ 0.8334 0.3555 0.5650 1 BDV syndrome 0.000 dominant HG002 HG002 chr4:165415766:C:A 1,.,. -1 -1 -1 -1 -1 -1 CPE 50_intron 48,.,. 0.520833,.,. CPE/intron/ 0.8334 0.3555 0.5650 1 BDV syndrome 0.000 dominant HG002 HG002 chr4:165635120:A:G 1,.,. 1.97127e-05 0 3 -1 -1 -1 47,.,. 0.574468,.,. dominant HG002 HG002 chr4:165936629:C:T 1,.,. 1.97314e-05 0 3 -1 -1 -1 TLL1 50_intron 47,.,. 0.489362,.,. TLL1/intron/ 0.9972 0.3608 0.4670 1 Atrial septal defect 6 0.000 dominant HG002 HG002 chr4:166261064:A:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.367347,.,. dominant HG002 HG002 chr4:166438285:CACATAT:C 1,.,. 7.49775e-05 0 3 -1 -1 -1 47,.,. 0.425532,.,. dominant HG002 HG002 chr4:166454630:C:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr4:166464953:G:A 1,.,. -1 -1 -1 0.00105116 1 3 45,.,. 0.511111,.,. dominant HG002 HG002 chr4:166588071:T:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr4:166887110:A:G 1,.,. 2.62854e-05 0 4 -1 -1 -1 SPOCK3 50_intron 42,.,. 0.571429,.,. SPOCK3/intron/ 0.1547 0.4287 0.6510 2 dominant HG002 HG002 chr4:167310658:A:AATGCC 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.577778,.,. dominant HG002 HG002 chr4:167310659:G:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr4:167364351:A:T 1,.,. 2.63717e-05 0 4 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr4:167364352:T:G 1,.,. 0.000558659 0 1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr4:167364354:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr4:167364355:T:TTCATC 1,.,. 6.59196e-06 0 1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr4:167628441:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr4:167628442:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr4:167775967:T:TATGG 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.282051,.,. dominant HG002 HG002 chr4:167898962:G:GAAAGAAAGAAAA 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr4:168420641:T:A 1,.,. -1 -1 -1 -1 -1 -1 DDX60L 50_intron 34,.,. 0.411765,.,. DDX60L/intron/;DDX60L/non_coding/ 0.0000 0.8902 1.0370 5 dominant HG002 HG002 chr4:168809874:A:AAAG 1,.,. -1 -1 -1 -1 -1 -1 PALLD 50_intron 24,.,. 0.541667,.,. PALLD/intron/ 0.0000 0.5025 0.6440 2 Pancreatic cancer, susceptibility to, 1 0.000 dominant HG002 HG002 chr4:168913517:T:G 1,.,. 1.97182e-05 0 3 -1 -1 -1 PALLD;CBR4 50_intron 41,.,. 0.634146,.,. PALLD/intron/;CBR4/intron/;CBR4/non_coding/;PALLD/non_coding/ 0.0000;;0.0000 0.5025;;1.2523 0.6440;;1.7910 2;;8 Pancreatic cancer, susceptibility to, 1 0.000 recessive HG002 HG002 chr4:168977929:AGGTAATG:A 2,.,. -1 -1 -1 -1 -1 -1 CBR4 50_intron 36,.,. 1,.,. CBR4/intron/;CBR4/non_coding/ 0.0000 1.2523 1.7910 8 recessive HG002 HG002 chr4:168977937:G:A 2,.,. -1 -1 -1 -1 -1 -1 CBR4 50_intron 36,.,. 1,.,. CBR4/intron/;CBR4/non_coding/ 0.0000 1.2523 1.7910 8 dominant HG002 HG002 chr4:168984493:A:C 1,.,. -1 -1 -1 -1 -1 -1 CBR4 50_intron 46,.,. 0.478261,.,. CBR4/intron/;CBR4/non_coding/ 0.0000 1.2523 1.7910 8 dominant HG002 HG002 chr4:168984494:CAG:C 1,.,. -1 -1 -1 -1 -1 -1 CBR4 50_intron 45,.,. 0.488889,.,. CBR4/intron/;CBR4/non_coding/ 0.0000 1.2523 1.7910 8 dominant HG002 HG002 chr4:168984497:A:T 1,.,. -1 -1 -1 -1 -1 -1 CBR4 50_intron 46,.,. 0.478261,.,. CBR4/intron/;CBR4/non_coding/ 0.0000 1.2523 1.7910 8 dominant HG002 HG002 chr4:168984498:T:A 1,.,. -1 -1 -1 -1 -1 -1 CBR4 50_intron 46,.,. 0.478261,.,. CBR4/intron/;CBR4/non_coding/ 0.0000 1.2523 1.7910 8 dominant HG002 HG002 chr4:169016075:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr4:169293078:C:T 1,.,. 1.97272e-05 0 3 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr4:170394619:G:A 1,.,. 1.97182e-05 0 3 -1 -1 -1 43,.,. 0.581395,.,. recessive HG002 HG002 chr4:170504421:A:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr4:170606116:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr4:170620402:T:TA 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.627451,.,. dominant HG002 HG002 chr4:170664266:C:CATTTATTTATTTATTT 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.75,.,. dominant HG002 HG002 chr4:170706234:A:ACTACC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr4:170706236:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr4:171020325:T:C 1,.,. 6.57108e-06 0 1 -1 -1 -1 48,.,. 0.4375,.,. dominant HG002 HG002 chr4:171336173:A:G 1,.,. 1.31671e-05 0 2 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr4:171657557:TATATGTATATACGTATACATACACATATGTGTATATACGTATACACACAC:T 1,.,. -1 -1 -1 0.00105116 0 3 47,.,. 0.553191,.,. dominant HG002 HG002 chr4:171774993:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. recessive HG002 HG002 chr4:171943921:A:C 2,.,. -1 -1 -1 -1 -1 -1 GALNTL6 50_intron 42,.,. 1,.,. GALNTL6/intron/ 0.0000 0.5699 0.7770 3 recessive HG002 HG002 chr4:171943922:A:ATATGAACCT 2,.,. -1 -1 -1 -1 -1 -1 GALNTL6 50_intron 42,.,. 1,.,. GALNTL6/intron/ 0.0000 0.5699 0.7770 3 recessive HG002 HG002 chr4:172071780:T:C 2,.,. 2.42072e-05 0 1 -1 -1 -1 GALNTL6 50_intron 24,.,. 1,.,. GALNTL6/intron/ 0.0000 0.5699 0.7770 3 dominant HG002 HG002 chr4:172761662:G:GCT 1,.,. -1 -1 -1 -1 -1 -1 GALNTL6 50_intron 45,.,. 0.355556,.,. GALNTL6/intron/ 0.0000 0.5699 0.7770 3 dominant HG002 HG002 chr4:173596541:TTGA:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr4:173596545:T:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr4:173799107:T:TCCTTCCTTCCTTCCTTCCTTC 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.275862,.,. recessive HG002 HG002 chr4:173868289:A:ACATCCTTAG 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr4:173868290:G:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr4:174224902:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chr4:175208776:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. recessive HG002 HG002 chr4:175479078:A:C 2,.,. -1 -1 -1 0.00350385 0 10 40,.,. 1,.,. recessive HG002 HG002 chr4:175479079:C:A 2,.,. -1 -1 -1 0.00315347 0 9 41,.,. 1,.,. dominant HG002 HG002 chr4:175540249:AGAAAAC:A 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.528302,.,. dominant HG002 HG002 chr4:175540256:T:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.571429,.,. recessive HG002 HG002 chr4:175822662:G:T 2,.,. 0.000762725 0 114 -1 -1 -1 GPM6A 50_intron 38,.,. 1,.,. GPM6A/intron/ 0.9903 0.0762 0.3620 0 dominant HG002 HG002 chr4:176133172:TTTTTTA:T 1,.,. -1 -1 -1 -1 -1 -1 WDR17 50_intron 46,.,. 0.23913,.,. WDR17/intron/ 0.0000 0.8545 0.9950 5 dominant HG002 HG002 chr4:176133184:A:T 1,.,. -1 -1 -1 -1 -1 -1 WDR17 50_intron 36,.,. 0.333333,.,. WDR17/intron/ 0.0000 0.8545 0.9950 5 dominant HG002 HG002 chr4:176206697:G:T 1,.,. 6.57384e-06 0 1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr4:176538311:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. recessive HG002 HG002 chr4:176816224:T:TTG 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr4:176816225:G:T 2,.,. 6.62849e-06 0 1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr4:178482144:C:CTATT 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.425532,.,. recessive HG002 HG002 chr4:178498517:A:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr4:178668619:C:T 1,.,. 2.63026e-05 0 4 0.000700771 0 2 42,.,. 0.47619,.,. recessive HG002 HG002 chr4:179196338:A:ATACCACATGGACAT 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr4:179196340:T:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr4:179246244:T:C 1,.,. 6.5722e-06 0 1 -1 -1 -1 52,.,. 0.384615,.,. dominant HG002 HG002 chr4:179252307:C:T 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.581818,.,. dominant HG002 HG002 chr4:179341779:C:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr4:179764095:A:G 1,.,. 6.5703e-06 0 1 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr4:179813261:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.589744,.,. dominant HG002 HG002 chr4:180237885:C:T 1,.,. -1 -1 -1 0.00105116 0 3 31,.,. 0.612903,.,. dominant HG002 HG002 chr4:180256012:T:G 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.461538,.,. dominant HG002 HG002 chr4:180452296:C:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.22,.,. dominant HG002 HG002 chr4:180721642:GGGTGAA:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr4:180721649:T:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chr4:181001257:G:A 1,.,. -1 -1 -1 0.00140154 0 4 40,.,. 0.5,.,. recessive HG002 HG002 chr4:181037069:T:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr4:181037070:A:ATTAT 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. dominant HG002 HG002 chr4:181127040:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.341463,.,. dominant HG002 HG002 chr4:181237503:T:C 1,.,. 6.78592e-06 0 1 -1 -1 -1 AC019235.1 53_non_coding 34,.,. 0.411765,.,. AC019235.1/non_coding/ dominant HG002 HG002 chr4:181466120:T:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. recessive HG002 HG002 chr4:181721562:T:TGCAGTCC 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr4:181721566:C:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr4:181905655:A:ACTATTTAT 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr4:181905665:T:C 2,.,. 2.6387e-05 1 4 -1 -1 -1 54,.,. 1,.,. dominant HG002 HG002 chr4:182468163:G:A 1,.,. -1 -1 -1 -1 -1 -1 TENM3 50_intron 45,.,. 0.422222,.,. TENM3/intron/ 1.0000 0.2455 0.3050 0 Microphthalmia, isolated, with coloboma 9 0.000 recessive HG002 HG002 chr4:183035515:GCAGA:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr4:183035524:C:G 2,.,. 0.000186814 0 13 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr4:183311615:T:C 2,.,. -1 -1 -1 -1 -1 -1 WWC2 50_intron 25,.,. 1,.,. WWC2/intron/ 0.0000 0.7907 0.9440 4 dominant HG002 HG002 chr4:183552923:TGA:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. recessive HG002 HG002 chr4:183735864:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr4:183735867:G:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chr4:183742564:TTTC:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.310345,.,. dominant HG002 HG002 chr4:183742569:T:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.344828,.,. recessive HG002 HG002 chr4:183892829:ATTAGTAGGTAACAG:A 2,.,. -1 -1 -1 -1 -1 -1 STOX2 50_intron 34,.,. 1,.,. STOX2/intron/;STOX2/non_coding/ 0.2626 0.4113 0.5740 1 recessive HG002 HG002 chr4:183892846:A:G 2,.,. -1 -1 -1 -1 -1 -1 STOX2 50_intron 35,.,. 1,.,. STOX2/intron/;STOX2/non_coding/ 0.2626 0.4113 0.5740 1 recessive HG002 HG002 chr4:183892847:G:A 2,.,. -1 -1 -1 -1 -1 -1 STOX2 50_intron 35,.,. 1,.,. STOX2/intron/;STOX2/non_coding/ 0.2626 0.4113 0.5740 1 recessive HG002 HG002 chr4:183892851:G:A 2,.,. -1 -1 -1 -1 -1 -1 STOX2 50_intron 35,.,. 1,.,. STOX2/intron/;STOX2/non_coding/ 0.2626 0.4113 0.5740 1 dominant HG002 HG002 chr4:184162555:GGAAA:G 1,.,. 1.978e-05 0 1 -1 -1 -1 ENPP6 50_intron 31,.,. 0.548387,.,. ENPP6/intron/ 0.0000 0.7385 0.9970 5 dominant HG002 HG002 chr4:184208017:G:GTTTTAACTTGTTT 1,.,. -1 -1 -1 -1 -1 -1 ENPP6 50_intron 28,.,. 0.321429,.,. ENPP6/intron/ 0.0000 0.7385 0.9970 5 dominant HG002 HG002 chr4:184208019:C:A 1,.,. -1 -1 -1 -1 -1 -1 ENPP6 50_intron 27,.,. 0.333333,.,. ENPP6/intron/ 0.0000 0.7385 0.9970 5 dominant HG002 HG002 chr4:184575035:ACT:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr4:184575038:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr4:184575039:C:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr4:184880476:T:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr4:185684009:G:GCCAACCAA 1,.,. -1 -1 -1 -1 -1 -1 SORBS2 50_intron 33,.,. 0.575758,.,. SORBS2/intron/;SORBS2/non_coding/ 0.0152 0.4463 0.5990 2 dominant HG002 HG002 chr4:185727547:A:G 1,.,. -1 -1 -1 -1 -1 -1 SORBS2 50_intron 22,.,. 0.5,.,. SORBS2/intron/;SORBS2/non_coding/ 0.0152 0.4463 0.5990 2 dominant HG002 HG002 chr4:185796709:T:TCTGTGGCCACGCTGTTCCCTGGTCACGGTGGGGCTGGGCATGCCTGGGCTCTGTGGCCACGCTGTTCCCTGGTCACGGTGGGGCTGGGCATGCCTGGGCGCTGTGGCCACGCTGTTCCCTGGTCACGGTGGGGCTGGGCATGCCTGGGCGCTGTGGCCACGCTGTTCCCTGGTCACGGTGGGGCTGGGCATGCCTGGGCG 1,.,. -1 -1 -1 0.000700771 0 2 SORBS2 50_intron 35,.,. 0.457143,.,. SORBS2/intron/;SORBS2/non_coding/ 0.0152 0.4463 0.5990 2 dominant HG002 HG002 chr4:185796836:G:A 1,.,. -1 -1 -1 0.000700771 0 2 SORBS2 50_intron 37,.,. 0.540541,.,. SORBS2/intron/;SORBS2/non_coding/ 0.0152 0.4463 0.5990 2 dominant HG002 HG002 chr4:185806505:T:TGGACTGC 1,.,. -1 -1 -1 -1 -1 -1 SORBS2 50_intron 34,.,. 0.617647,.,. SORBS2/intron/;SORBS2/non_coding/ 0.0152 0.4463 0.5990 2 dominant HG002 HG002 chr4:185946196:T:G 1,.,. -1 -1 -1 -1 -1 -1 SORBS2 50_intron 44,.,. 0.568182,.,. SORBS2/intron/;SORBS2/non_coding/ 0.0152 0.4463 0.5990 2 dominant HG002 HG002 chr4:186047203:TA:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.666667,.,. dominant HG002 HG002 chr4:186057907:C:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.380952,.,. recessive HG002 HG002 chr4:186265393:GTAGTCCCAGCT:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr4:186265405:A:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr4:186392103:A:C 1,.,. 9.57011e-06 0 1 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr4:186610626:AAATTATAT:A 1,.,. -1 -1 -1 0.00105116 0 3 FAT1 50_intron 39,.,. 0.564103,.,. FAT1/intron/ 0.0000 0.5012 0.5710 1 dominant HG002 HG002 chr4:186688654:C:G 1,.,. -1 -1 -1 -1 -1 -1 FAT1 50_intron 32,.,. 0.46875,.,. FAT1/intron/ 0.0000 0.5012 0.5710 1 dominant HG002 HG002 chr4:186810794:C:CTGTAACAT 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr4:186810795:G:T 1,.,. 1.31468e-05 0 2 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr4:186854315:T:TCTAGA 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.615385,.,. dominant HG002 HG002 chr4:186854318:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.615385,.,. recessive HG002 HG002 chr4:187214311:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr4:187214312:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr4:187214313:G:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr4:187336459:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr4:187409659:A:ATATT 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.282051,.,. dominant HG002 HG002 chr4:187461146:G:GGTGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.684211,.,. dominant HG002 HG002 chr4:187635451:G:A 1,.,. 1.98407e-05 0 3 -1 -1 -1 49,.,. 0.408163,.,. dominant HG002 HG002 chr4:187991669:T:TGAACCAGAA 1,.,. 2.54933e-05 0 1 -1 -1 -1 25,.,. 0.52,.,. dominant HG002 HG002 chr4:188016391:A:G 1,.,. 3.5492e-05 0 3 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr4:188200227:T:TATATATATATATATATATATATATATTCTCTAATATATAAATATATATATTCTCTAATATATAAATATATATATTCTCTAATATATAA 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.344828,.,. dominant HG002 HG002 chr4:188230462:AAAATATATATATAT:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.543478,.,. dominant HG002 HG002 chr4:188244441:T:TTC 1,.,. 4.29037e-05 0 1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr4:188269871:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.307692,.,. recessive HG002 HG002 chr4:188614859:A:AGTT 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr4:188614860:T:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr4:188687658:T:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr4:188870872:A:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr4:188870914:G:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.323529,.,. dominant HG002 HG002 chr4:188974885:G:A 1,.,. -1 -1 -1 0.00140154 0 4 25,.,. 0.4,.,. recessive HG002 HG002 chr4:189036213:CT:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr4:189036278:A:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr4:189036313:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr4:189036317:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr4:189036327:G:A 2,.,. 0.00127986 4 9 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chr4:189221842:A:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr4:189371171:TTTTTTGTA:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.674419,.,. dominant HG002 HG002 chr4:189371180:T:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.659091,.,. dominant HG002 HG002 chr4:189408551:C:T 1,.,. -1 -1 -1 0.00140154 0 4 37,.,. 0.513514,.,. dominant HG002 HG002 chr4:189653333:C:CTTCCCAT 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr4:189653335:A:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr4:189656828:T:TGAGA 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr4:189757687:T:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr4:189757688:A:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr4:189757690:A:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr4:189757694:C:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. recessive HG002 HG002 chr4:189816078:A:ATGT 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr4:189816084:G:A 2,.,. 6.58129e-05 0 10 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr4:190061424:A:C 2,.,. -1 -1 -1 -1 -1 -1 CLUHP4 53_non_coding 24,.,. 1,.,. CLUHP4/non_coding/ recessive HG002 HG002 chr4:190061425:T:A 2,.,. -1 -1 -1 -1 -1 -1 CLUHP4 53_non_coding 25,.,. 1,.,. CLUHP4/non_coding/ recessive HG002 HG002 chr4:190061428:C:T 2,.,. -1 -1 -1 -1 -1 -1 CLUHP4 53_non_coding 25,.,. 1,.,. CLUHP4/non_coding/ recessive HG002 HG002 chr4:190173193:G:A 2,.,. -1 -1 -1 0.00280308 4 8 20,.,. 1,.,. recessive HG002 HG002 chr4:190173204:T:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chr5:43358:A:G 1,.,. -1 -1 -1 0.00105116 0 3 30,.,. 0.533333,.,. dominant HG002 HG002 chr5:229876:C:T 1,.,. -1 -1 -1 -1 -1 -1 SDHA;AC021087.5 50_intron 27,.,. 0.259259,.,. SDHA/intron/;AC021087.5/intron/;SDHA/non_coding/ 0.0000 0.6055 0.7860 3 Neurodegeneration with ataxia and late-onset optic atrophy;Mitochondrial complex II deficiency, nuclear type 1;Paragangliomas 5;Dilated cardiomyopathy 1GG 0.000 dominant HG002 HG002 chr5:232032:C:G 1,.,. 1.54772e-05 0 2 -1 -1 -1 SDHA;AC021087.5 50_intron 39,.,. 0.564103,.,. SDHA/intron/;AC021087.5/intron/;SDHA/non_coding/ 0.0000 0.6055 0.7860 3 Neurodegeneration with ataxia and late-onset optic atrophy;Mitochondrial complex II deficiency, nuclear type 1;Paragangliomas 5;Dilated cardiomyopathy 1GG 0.000 dominant HG002 HG002 chr5:295210:AAAAT:A 1,.,. 9.56187e-06 0 1 -1 -1 -1 AC021087.5;PDCD6 50_intron 25,.,. 0.48,.,. AC021087.5/intron/;PDCD6/intron/;PDCD6/non_coding/ 0.1729 0.4511 0.8470 3 dominant HG002 HG002 chr5:325907:C:T 1,.,. 2.63054e-05 0 4 -1 -1 -1 AC010442.3;AHRR 50_intron 27,.,. 0.444444,.,. AC010442.3/intron/;AHRR/intron/ 0.0000 0.6545 0.8970 4 dominant HG002 HG002 chr5:332790:GCTCT:G 1,.,. -1 -1 -1 -1 -1 -1 AC010442.3;AHRR 50_intron 33,.,. 0.515152,.,. AC010442.3/intron/;AHRR/intron/ 0.0000 0.6545 0.8970 4 dominant HG002 HG002 chr5:687750:G:A 1,.,. -1 -1 -1 0.000700771 0 2 TPPP 50_intron 25,.,. 0.52,.,. TPPP/intron/ 0.4387 0.3826 0.7550 3 dominant HG002 HG002 chr5:691716:G:GC 1,.,. -1 -1 -1 -1 -1 -1 TPPP 50_intron 26,.,. 0.346154,.,. TPPP/intron/ 0.4387 0.3826 0.7550 3 dominant HG002 HG002 chr5:691724:C:A 1,.,. -1 -1 -1 -1 -1 -1 TPPP 50_intron 27,.,. 0.407407,.,. TPPP/intron/ 0.4387 0.3826 0.7550 3 recessive HG002 HG002 chr5:694050:A:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr5:748812:C:T 2,.,. -1 -1 -1 -1 -1 -1 ZDHHC11B 50_intron 14,.,. 1,.,. ZDHHC11B/intron/;ZDHHC11B/non_coding/ 0.0004 0.6576 1.0130 5 recessive HG002 HG002 chr5:748813:T:C 2,.,. -1 -1 -1 -1 -1 -1 ZDHHC11B 50_intron 13,.,. 1,.,. ZDHHC11B/intron/;ZDHHC11B/non_coding/ 0.0004 0.6576 1.0130 5 recessive HG002 HG002 chr5:749001:C:A 2,.,. -1 -1 -1 0.00140154 0 4 ZDHHC11B 50_intron 12,.,. 1,.,. ZDHHC11B/intron/;ZDHHC11B/non_coding/ 0.0004 0.6576 1.0130 5 recessive HG002 HG002 chr5:749048:A:G 2,.,. -1 -1 -1 0.0157673 4 45 ZDHHC11B 50_intron 13,.,. 1,.,. ZDHHC11B/intron/;ZDHHC11B/non_coding/ 0.0004 0.6576 1.0130 5 recessive HG002 HG002 chr5:749475:G:GGCAAACACCACACTCA 2,.,. -1 -1 -1 -1 -1 -1 ZDHHC11B 50_intron 13,.,. 1,.,. ZDHHC11B/intron/;ZDHHC11B/non_coding/ 0.0004 0.6576 1.0130 5 recessive HG002 HG002 chr5:749479:C:T 2,.,. 3.07948e-05 1 4 -1 -1 -1 ZDHHC11B 50_intron 13,.,. 1,.,. ZDHHC11B/intron/;ZDHHC11B/non_coding/ 0.0004 0.6576 1.0130 5 recessive HG002 HG002 chr5:752949:C:A 2,.,. 4.74684e-05 2 6 -1 -1 -1 ZDHHC11B 50_intron 17,.,. 1,.,. ZDHHC11B/intron/ 0.0004 0.6576 1.0130 5 recessive HG002 HG002 chr5:754230:A:T 2,.,. 0.000118437 0 3 0.000700771 0 2 ZDHHC11B 50_intron 22,.,. 1,.,. ZDHHC11B/intron/ 0.0004 0.6576 1.0130 5 recessive HG002 HG002 chr5:955593:C:CTGTCTT 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr5:955595:T:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr5:975840:T:C 1,.,. -1 -1 -1 0.000700771 0 2 23,.,. 0.652174,.,. dominant HG002 HG002 chr5:1045734:AGTTAGTGT:A 1,.,. 1.66956e-05 0 1 -1 -1 -1 21,.,. 0.52381,.,. dominant HG002 HG002 chr5:1045746:A:T 1,.,. 6.26645e-05 0 4 -1 -1 -1 22,.,. 0.5,.,. dominant HG002 HG002 chr5:1076411:C:CATCCTGTGACCA 1,.,. -1 -1 -1 -1 -1 -1 SLC12A7 50_intron 16,.,. 0.5625,.,. SLC12A7/intron/ 0.0000 0.8656 1.0260 5 recessive HG002 HG002 chr5:1192729:T:TGAG 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr5:1273782:CTGTGA:C 1,.,. -1 -1 -1 -1 -1 -1 TERT 50_intron 18,.,. 0.555556,.,. TERT/non_coding/;TERT/intron/ 0.0019 0.4573 0.5930 2 Dyskeratosis congenita, autosomal dominant 1;Interstitial lung disease 2;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1;Melanoma, cutaneous malignant, susceptibility to, 9;Dyskeratosis congenita, autosomal dominant 2 0.000 dominant HG002 HG002 chr5:1282433:T:C 1,.,. -1 -1 -1 -1 -1 -1 TERT 14_missense 21,.,. 0.47619,.,. TERT/missense/ENST00000310581;TERT/missense&NMD_transcript/ENST00000460137;TERT/missense/ENST00000334602;TERT/3_prime_utr&NMD_transcript/ENST00000656021 0.0019 0.4573 0.5930 2 Dyskeratosis congenita, autosomal dominant 1;Interstitial lung disease 2;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1;Melanoma, cutaneous malignant, susceptibility to, 9;Dyskeratosis congenita, autosomal dominant 2 0.000 dominant HG002 HG002 chr5:1590590:A:AGGCCCAGGCTGTGGGTCTCTTGAGGTTCTGCACCGCCTCTCCCTG 1,.,. -1 -1 -1 0.00140154 0 4 SDHAP3 53_non_coding 28,.,. 0.392857,.,. SDHAP3/non_coding/ dominant HG002 HG002 chr5:1642601:G:A 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.409091,.,. dominant HG002 HG002 chr5:1710566:C:T 1,.,. 1.63951e-05 0 1 -1 -1 -1 22,.,. 0.409091,.,. recessive HG002 HG002 chr5:1796005:T:TGAGGTGTGCCCAGTTAG 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr5:1796007:G:A 2,.,. 0.000434211 1 66 0.00105116 0 3 26,.,. 1,.,. dominant HG002 HG002 chr5:1853412:T:TCTTTCTTTCTTTCTTTTTC 1,.,. -1 -1 -1 0.00140154 0 4 21,.,. 0.428571,.,. dominant HG002 HG002 chr5:1853475:T:TCCTTCCTTCCTCCCTCCCTCCCTC 1,.,. -1 -1 -1 0.00105116 0 3 11,.,. 0.727273,.,. dominant HG002 HG002 chr5:1922195:G:T 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.26087,.,. dominant HG002 HG002 chr5:2093322:A:G 1,.,. 1.9714e-05 0 3 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr5:2094743:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr5:2149331:T:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.633333,.,. dominant HG002 HG002 chr5:2151406:C:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.52,.,. dominant HG002 HG002 chr5:2159110:C:A 1,.,. 6.56978e-06 0 1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr5:2211194:G:A 1,.,. 3.0373e-05 0 2 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr5:2246285:A:ATATATAGGATATATAGGATATG 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr5:2578159:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr5:2601130:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr5:2694395:AAAAAC:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.282051,.,. recessive HG002 HG002 chr5:2723649:G:GAC 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr5:2723650:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr5:2731080:G:GCTATGAT 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr5:2731081:A:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr5:2731082:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr5:2781727:TTCATCCA:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr5:2781735:G:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr5:2869834:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. recessive HG002 HG002 chr5:3015899:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr5:3015900:ATTGCTAATGTAT:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr5:3653598:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. recessive HG002 HG002 chr5:3731525:A:ACG 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr5:3731526:G:T 2,.,. 6.57013e-06 0 1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr5:3832272:C:T 1,.,. 1.31441e-05 0 2 -1 -1 -1 42,.,. 0.666667,.,. dominant HG002 HG002 chr5:3890443:TGGTGGCTGA:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr5:3890453:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. recessive HG002 HG002 chr5:3969994:C:A 2,.,. 7.62835e-05 0 2 0.00911002 0 26 38,.,. 1,.,. recessive HG002 HG002 chr5:4008052:C:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr5:4008053:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr5:4286251:T:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr5:4286252:AAACTCT:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr5:4299166:AAT:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr5:4347307:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. recessive HG002 HG002 chr5:4645697:T:C 2,.,. 0.000757619 0 53 0.00560617 0 16 36,.,. 1,.,. dominant HG002 HG002 chr5:4977851:A:AGTGTGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.366667,.,. dominant HG002 HG002 chr5:5071629:A:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr5:5311319:A:C 1,.,. -1 -1 -1 -1 -1 -1 ADAMTS16 50_intron 32,.,. 0.375,.,. ADAMTS16/intron/ 0.0000 0.6654 0.7940 3 dominant HG002 HG002 chr5:5359015:G:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.548387,.,. recessive HG002 HG002 chr5:5400223:ATCTGT:A 2,.,. 6.58657e-06 0 1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr5:5400229:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr5:5520230:CTA:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr5:5520233:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr5:5687420:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr5:5769802:G:A 1,.,. 5.0888e-05 0 4 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr5:5880539:G:A 1,.,. 2.62895e-05 0 4 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr5:6211232:G:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr5:6457564:ACG:A 1,.,. -1 -1 -1 -1 -1 -1 UBE2QL1 50_intron 32,.,. 0.5625,.,. UBE2QL1/intron/ 0.2781 0.4218 0.8870 4 dominant HG002 HG002 chr5:6457567:T:G 1,.,. -1 -1 -1 -1 -1 -1 UBE2QL1 50_intron 32,.,. 0.5625,.,. UBE2QL1/intron/ 0.2781 0.4218 0.8870 4 dominant HG002 HG002 chr5:6539212:AAGGG:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr5:6539218:T:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr5:6796008:A:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.394737,.,. dominant HG002 HG002 chr5:6836044:T:TATATATATATA 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.387097,.,. dominant HG002 HG002 chr5:6838249:C:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.580645,.,. dominant HG002 HG002 chr5:7110668:AGACTAACACCC:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.648649,.,. dominant HG002 HG002 chr5:7110680:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.648649,.,. dominant HG002 HG002 chr5:7968636:TATTCAAGCTTGAG:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr5:7968652:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr5:7984522:G:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr5:8031059:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr5:8123591:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr5:8123592:A:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr5:8123594:TA:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr5:8162642:T:A 1,.,. -1 -1 -1 0.000700771 0 2 42,.,. 0.47619,.,. recessive HG002 HG002 chr5:8286328:ATATACCC:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr5:8286932:C:CCCTTCCTTCCTT 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr5:8328862:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr5:8743464:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr5:8743468:A:ACAAACTTTTGG 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr5:8746735:A:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr5:8983185:AAAG:A 1,.,. 2.27139e-05 0 2 -1 -1 -1 37,.,. 0.324324,.,. dominant HG002 HG002 chr5:8983192:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr5:9075391:TTAATTGTAA:T 1,.,. -1 -1 -1 -1 -1 -1 SEMA5A 50_intron 35,.,. 0.514286,.,. SEMA5A/intron/ 0.8582 0.3908 0.4950 1 0.000 dominant HG002 HG002 chr5:9075401:T:A 1,.,. -1 -1 -1 -1 -1 -1 SEMA5A 50_intron 35,.,. 0.514286,.,. SEMA5A/intron/ 0.8582 0.3908 0.4950 1 0.000 dominant HG002 HG002 chr5:9261575:C:T 1,.,. -1 -1 -1 0.000700771 0 2 SEMA5A 50_intron 49,.,. 0.571429,.,. SEMA5A/intron/;SEMA5A/non_coding/ 0.8582 0.3908 0.4950 1 0.000 recessive HG002 HG002 chr5:10005453:A:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr5:10259890:A:G 1,.,. -1 -1 -1 -1 -1 -1 CCT5 50_intron 40,.,. 0.525,.,. CCT5/intron/;CCT5/non_coding/ 1.0000 0.1192 0.2350 0 Hereditary sensory and autonomic neuropathy with spastic paraplegia 0.000 dominant HG002 HG002 chr5:10259891:G:C 1,.,. -1 -1 -1 -1 -1 -1 CCT5 50_intron 39,.,. 0.538462,.,. CCT5/intron/;CCT5/non_coding/ 1.0000 0.1192 0.2350 0 Hereditary sensory and autonomic neuropathy with spastic paraplegia 0.000 dominant HG002 HG002 chr5:10263339:TGGAG:T 1,.,. 0.000239234 0 4 -1 -1 -1 CCT5 50_intron 38,.,. 0.526316,.,. CCT5/intron/;CCT5/non_coding/ 1.0000 0.1192 0.2350 0 Hereditary sensory and autonomic neuropathy with spastic paraplegia 0.000 dominant HG002 HG002 chr5:10263348:G:A 1,.,. 0.000260485 0 4 -1 -1 -1 CCT5 50_intron 39,.,. 0.538462,.,. CCT5/intron/;CCT5/non_coding/ 1.0000 0.1192 0.2350 0 Hereditary sensory and autonomic neuropathy with spastic paraplegia 0.000 recessive HG002 HG002 chr5:10770600:G:C 2,.,. 0.00425579 2 542 0.00420463 0 12 32,.,. 1,.,. dominant HG002 HG002 chr5:10797874:C:G 1,.,. 6.57056e-06 0 1 -1 -1 -1 50,.,. 0.36,.,. dominant HG002 HG002 chr5:10861106:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.351351,.,. dominant HG002 HG002 chr5:10984536:T:TTTGTGGCTTCTGAGCCTAGGATGTTAATACTGGAAGTTCTTTCCCCTCACTCGTTTAA 1,.,. -1 -1 -1 0.000700771 0 2 CTNND2 50_intron 39,.,. 0.384615,.,. CTNND2/intron/;CTNND2/non_coding/ 1.0000 0.1568 0.2280 0 0.000 dominant HG002 HG002 chr5:11129058:T:A 1,.,. -1 -1 -1 -1 -1 -1 CTNND2 50_intron 36,.,. 0.388889,.,. CTNND2/intron/;CTNND2/non_coding/ 1.0000 0.1568 0.2280 0 0.000 dominant HG002 HG002 chr5:11646630:GAAATATCA:G 1,.,. -1 -1 -1 -1 -1 -1 CTNND2 50_intron 46,.,. 0.630435,.,. CTNND2/intron/;CTNND2/non_coding/ 1.0000 0.1568 0.2280 0 0.000 dominant HG002 HG002 chr5:11646640:G:C 1,.,. -1 -1 -1 -1 -1 -1 CTNND2 50_intron 44,.,. 0.659091,.,. CTNND2/intron/;CTNND2/non_coding/ 1.0000 0.1568 0.2280 0 0.000 dominant HG002 HG002 chr5:11771447:G:GGAAAAT 1,.,. -1 -1 -1 -1 -1 -1 CTNND2 50_intron 33,.,. 0.545455,.,. CTNND2/intron/;CTNND2/non_coding/ 1.0000 0.1568 0.2280 0 0.000 dominant HG002 HG002 chr5:11788295:CAGT:C 1,.,. -1 -1 -1 -1 -1 -1 CTNND2 50_intron 37,.,. 0.594595,.,. CTNND2/intron/;CTNND2/non_coding/ 1.0000 0.1568 0.2280 0 0.000 dominant HG002 HG002 chr5:11788301:GCTAAGGAC:G 1,.,. -1 -1 -1 -1 -1 -1 CTNND2 50_intron 37,.,. 0.594595,.,. CTNND2/intron/;CTNND2/non_coding/ 1.0000 0.1568 0.2280 0 0.000 dominant HG002 HG002 chr5:11788311:C:A 1,.,. -1 -1 -1 -1 -1 -1 CTNND2 50_intron 36,.,. 0.583333,.,. CTNND2/intron/;CTNND2/non_coding/ 1.0000 0.1568 0.2280 0 0.000 dominant HG002 HG002 chr5:11880514:T:TACTACC 1,.,. -1 -1 -1 -1 -1 -1 CTNND2 50_intron 46,.,. 0.565217,.,. CTNND2/intron/;CTNND2/non_coding/ 1.0000 0.1568 0.2280 0 0.000 dominant HG002 HG002 chr5:12196154:CAATAA:C 1,.,. 6.58077e-06 0 1 -1 -1 -1 46,.,. 0.413043,.,. dominant HG002 HG002 chr5:12196160:A:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr5:12254453:AAG:A 1,.,. 4.09724e-05 0 3 -1 -1 -1 42,.,. 0.309524,.,. recessive HG002 HG002 chr5:12380299:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr5:12380300:A:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr5:12380302:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr5:12380304:A:ATCTAAAT 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. dominant HG002 HG002 chr5:12542909:T:TAAAGTACATA 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.425926,.,. dominant HG002 HG002 chr5:12860738:A:T 1,.,. 1.31608e-05 0 2 0.00105116 0 3 52,.,. 0.576923,.,. dominant HG002 HG002 chr5:13019977:C:G 1,.,. 1.31415e-05 0 2 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr5:13249657:C:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr5:13249658:A:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr5:13249659:T:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr5:13364363:AAC:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.380952,.,. recessive HG002 HG002 chr5:13379090:T:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr5:13786859:T:C 1,.,. -1 -1 -1 -1 -1 -1 DNAH5 50_intron 48,.,. 0.458333,.,. DNAH5/intron/ 0.0000 0.6990 0.7640 3 Primary ciliary dyskinesia 3 0.000 dominant HG002 HG002 chr5:13823549:AT:A 1,.,. -1 -1 -1 -1 -1 -1 DNAH5 50_intron 34,.,. 0.352941,.,. DNAH5/intron/ 0.0000 0.6990 0.7640 3 Primary ciliary dyskinesia 3 0.000 dominant HG002 HG002 chr5:13859090:T:TAGA 1,.,. -1 -1 -1 -1 -1 -1 DNAH5 50_intron 45,.,. 0.444444,.,. DNAH5/intron/ 0.0000 0.6990 0.7640 3 Primary ciliary dyskinesia 3 0.000 dominant HG002 HG002 chr5:13859095:A:C 1,.,. -1 -1 -1 -1 -1 -1 DNAH5 50_intron 45,.,. 0.444444,.,. DNAH5/intron/ 0.0000 0.6990 0.7640 3 Primary ciliary dyskinesia 3 0.000 dominant HG002 HG002 chr5:13921483:A:C 1,.,. -1 -1 -1 -1 -1 -1 DNAH5 50_intron 41,.,. 0.512195,.,. DNAH5/intron/;DNAH5/non_coding/ 0.0000 0.6990 0.7640 3 Primary ciliary dyskinesia 3 0.000 dominant HG002 HG002 chr5:14056979:A:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.317073,.,. recessive HG002 HG002 chr5:14845348:G:A 2,.,. 0.00137669 0 127 -1 -1 -1 ANKH 50_intron 38,.,. 1,.,. ANKH/intron/;ANKH/non_coding/ 0.9971 0.3004 0.4630 1 Craniometaphyseal dysplasia, autosomal dominant;Chondrocalcinosis 2 0.000 recessive HG002 HG002 chr5:14845358:ATATATATATTTTTTT:A 2,.,. 0.00124115 0 34 -1 -1 -1 ANKH 50_intron 37,.,. 1,.,. ANKH/intron/;ANKH/non_coding/ 0.9971 0.3004 0.4630 1 Craniometaphyseal dysplasia, autosomal dominant;Chondrocalcinosis 2 0.000 recessive HG002 HG002 chr5:14982240:CAA:C 2,.,. -1 -1 -1 0.0287316 3 82 27,.,. 1,.,. dominant HG002 HG002 chr5:15207943:G:GAAAGA 1,.,. -1 -1 -1 0.00105116 0 3 49,.,. 0.428571,.,. dominant HG002 HG002 chr5:15273789:T:TTAG 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.65,.,. dominant HG002 HG002 chr5:15273793:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.65,.,. recessive HG002 HG002 chr5:15816271:A:G 2,.,. 0.00167533 0 49 0.00105116 0 3 FBXL7 50_intron 33,.,. 1,.,. FBXL7/intron/ 0.9301 0.3272 0.5420 1 dominant HG002 HG002 chr5:15897669:G:A 1,.,. 6.57246e-06 0 1 -1 -1 -1 FBXL7 50_intron 30,.,. 0.566667,.,. FBXL7/intron/ 0.9301 0.3272 0.5420 1 dominant HG002 HG002 chr5:15912385:G:A 1,.,. -1 -1 -1 -1 -1 -1 FBXL7 50_intron 33,.,. 0.363636,.,. FBXL7/intron/ 0.9301 0.3272 0.5420 1 dominant HG002 HG002 chr5:16433460:T:TGTGC 1,.,. 1.26553e-05 0 1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr5:16453577:A:T 1,.,. -1 -1 -1 -1 -1 -1 ZNF622 50_intron 32,.,. 0.5,.,. ZNF622/intron/ 0.0000 0.6724 0.9070 4 recessive HG002 HG002 chr5:16525765:C:CAG 2,.,. -1 -1 -1 -1 -1 -1 RETREG1 50_intron 28,.,. 1,.,. RETREG1/intron/ 0.0000 0.5995 0.8430 3 Neuropathy, hereditary sensory and autonomic, type 2B;Neuropathy, hereditary sensory and autonomic, type 2A 0.000 dominant HG002 HG002 chr5:16550203:T:C 1,.,. -1 -1 -1 -1 -1 -1 RETREG1 50_intron 42,.,. 0.452381,.,. RETREG1/intron/ 0.0000 0.5995 0.8430 3 Neuropathy, hereditary sensory and autonomic, type 2B;Neuropathy, hereditary sensory and autonomic, type 2A 0.000 recessive HG002 HG002 chr5:16715562:AGTGCTGGGATTACAGGC:A 2,.,. -1 -1 -1 -1 -1 -1 MYO10 50_intron 31,.,. 1,.,. MYO10/intron/;MYO10/non_coding/ 0.0000 0.5415 0.6290 2 recessive HG002 HG002 chr5:16715581:T:A 2,.,. -1 -1 -1 -1 -1 -1 MYO10 50_intron 33,.,. 1,.,. MYO10/intron/;MYO10/non_coding/ 0.0000 0.5415 0.6290 2 recessive HG002 HG002 chr5:16715582:G:A 2,.,. 9.2081e-05 0 1 -1 -1 -1 MYO10 50_intron 33,.,. 1,.,. MYO10/intron/;MYO10/non_coding/ 0.0000 0.5415 0.6290 2 dominant HG002 HG002 chr5:16792592:G:C 1,.,. -1 -1 -1 -1 -1 -1 MYO10 50_intron 36,.,. 0.555556,.,. MYO10/intron/ 0.0000 0.5415 0.6290 2 dominant HG002 HG002 chr5:16980950:GAAC:G 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.454545,.,. dominant HG002 HG002 chr5:16980962:C:A 1,.,. 1.10771e-05 0 1 -1 -1 -1 19,.,. 0.578947,.,. dominant HG002 HG002 chr5:17051994:ATATT:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.555556,.,. dominant HG002 HG002 chr5:17226947:T:C 1,.,. -1 -1 -1 -1 -1 -1 BASP1 50_intron 28,.,. 0.464286,.,. BASP1/intron/ 0.2823 0.4273 1.3200 7 recessive HG002 HG002 chr5:17598393:A:G 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr5:17598399:T:G 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. dominant HG002 HG002 chr5:17714730:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr5:17830206:C:CAGATCAAA 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.531915,.,. dominant HG002 HG002 chr5:18274486:TCAGGA:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.434783,.,. dominant HG002 HG002 chr5:18274493:A:C 1,.,. 1.64734e-05 0 1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr5:18274494:C:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr5:18274495:T:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr5:18447930:T:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr5:18639361:C:A 1,.,. 8.76424e-05 0 3 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr5:18639364:C:A 1,.,. 0.000174825 0 4 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr5:18907736:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.581395,.,. dominant HG002 HG002 chr5:18948186:A:AAAGATG 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr5:18948191:G:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr5:19151990:ATG:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr5:19151994:C:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr5:19455642:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr5:19461691:A:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr5:19711008:A:C 1,.,. 6.57704e-06 0 1 -1 -1 -1 CDH18 50_intron 49,.,. 0.55102,.,. CDH18/intron/ 0.0003 0.5310 0.7370 2 dominant HG002 HG002 chr5:20241892:G:GTATGTGTA 1,.,. -1 -1 -1 -1 -1 -1 CDH18 50_intron 40,.,. 0.4,.,. CDH18/intron/;CDH18/non_coding/ 0.0003 0.5310 0.7370 2 dominant HG002 HG002 chr5:20623255:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.55814,.,. dominant HG002 HG002 chr5:20637999:GAT:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr5:20638002:C:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr5:20646604:AT:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr5:20653322:C:A 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.5,.,. dominant HG002 HG002 chr5:20750405:T:TTGAAAGTA 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.428571,.,. dominant HG002 HG002 chr5:20750407:T:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.425532,.,. dominant HG002 HG002 chr5:20754728:A:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.630435,.,. dominant HG002 HG002 chr5:20755474:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.630435,.,. dominant HG002 HG002 chr5:20759411:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.65,.,. dominant HG002 HG002 chr5:20762013:C:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr5:20900053:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. recessive HG002 HG002 chr5:21147976:T:TGGTTCC 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. recessive HG002 HG002 chr5:21147977:T:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. dominant HG002 HG002 chr5:21290668:AGTGC:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.442308,.,. dominant HG002 HG002 chr5:21290673:C:T 1,.,. 6.59683e-06 0 1 -1 -1 -1 52,.,. 0.442308,.,. recessive HG002 HG002 chr5:21435776:ATTT:A 2,.,. -1 -1 -1 -1 -1 -1 GUSBP1 53_non_coding 39,.,. 1,.,. GUSBP1/non_coding/ recessive HG002 HG002 chr5:21435780:T:G 2,.,. -1 -1 -1 -1 -1 -1 GUSBP1 53_non_coding 39,.,. 1,.,. GUSBP1/non_coding/ recessive HG002 HG002 chr5:21435782:A:T 2,.,. -1 -1 -1 -1 -1 -1 GUSBP1 53_non_coding 39,.,. 1,.,. GUSBP1/non_coding/ recessive HG002 HG002 chr5:21435783:T:A 2,.,. -1 -1 -1 -1 -1 -1 GUSBP1 53_non_coding 39,.,. 1,.,. GUSBP1/non_coding/ dominant HG002 HG002 chr5:21705885:A:ATTT 1,.,. -1 -1 -1 0.000700771 0 2 28,.,. 0.428571,.,. dominant HG002 HG002 chr5:22111804:C:T 1,.,. -1 -1 -1 -1 -1 -1 CDH12 50_intron 44,.,. 0.545455,.,. CDH12/intron/;CDH12/non_coding/ 0.0025 0.4844 0.6680 2 recessive HG002 HG002 chr5:22277634:A:T 2,.,. -1 -1 -1 -1 -1 -1 CDH12 50_intron 55,.,. 1,.,. CDH12/intron/ 0.0025 0.4844 0.6680 2 dominant HG002 HG002 chr5:22342624:TTTTCTA:T 1,.,. -1 -1 -1 -1 -1 -1 CDH12 50_intron 44,.,. 0.5,.,. CDH12/intron/;CDH12/non_coding/ 0.0025 0.4844 0.6680 2 dominant HG002 HG002 chr5:22831348:A:AGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 CDH12 50_intron 36,.,. 0.333333,.,. CDH12/intron/ 0.0025 0.4844 0.6680 2 dominant HG002 HG002 chr5:23447327:A:G 1,.,. 1.31451e-05 0 2 -1 -1 -1 PRDM9 50_intron 43,.,. 0.581395,.,. PRDM9/intron/ 0.0000 0.8145 1.0390 5 recessive HG002 HG002 chr5:23469671:G:A 2,.,. -1 -1 -1 -1 -1 -1 PRDM9 50_intron 48,.,. 1,.,. PRDM9/intron/ 0.0000 0.8145 1.0390 5 recessive HG002 HG002 chr5:23469676:A:C 2,.,. -1 -1 -1 -1 -1 -1 PRDM9 50_intron 48,.,. 1,.,. PRDM9/intron/ 0.0000 0.8145 1.0390 5 recessive HG002 HG002 chr5:23469677:C:A 2,.,. -1 -1 -1 -1 -1 -1 PRDM9 50_intron 48,.,. 1,.,. PRDM9/intron/ 0.0000 0.8145 1.0390 5 recessive HG002 HG002 chr5:23469680:A:C 2,.,. -1 -1 -1 -1 -1 -1 PRDM9 50_intron 48,.,. 1,.,. PRDM9/intron/ 0.0000 0.8145 1.0390 5 recessive HG002 HG002 chr5:23469686:A:AT 2,.,. -1 -1 -1 -1 -1 -1 PRDM9 50_intron 47,.,. 1,.,. PRDM9/intron/ 0.0000 0.8145 1.0390 5 dominant HG002 HG002 chr5:23545420:G:A 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.45283,.,. dominant HG002 HG002 chr5:23988381:C:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.714286,.,. dominant HG002 HG002 chr5:24120440:C:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr5:24805141:ATATG:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.352941,.,. recessive HG002 HG002 chr5:25834980:T:TTTCACCGTGTTAGCCAG 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr5:25834981:C:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr5:25841941:T:A 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.5,.,. dominant HG002 HG002 chr5:25887205:AGACTGGATGAT:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. recessive HG002 HG002 chr5:26093967:A:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.983333,.,. dominant HG002 HG002 chr5:26121127:A:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr5:26121128:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr5:26121129:A:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr5:26244526:A:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr5:26244527:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr5:26244531:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr5:26244534:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr5:26244536:TATTTATAC:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr5:26477696:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr5:26597763:G:A 1,.,. 1.41933e-05 0 2 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr5:26656266:C:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr5:27364536:G:T 1,.,. 6.57056e-06 0 1 -1 -1 -1 48,.,. 0.416667,.,. dominant HG002 HG002 chr5:27548784:C:T 1,.,. 1.32314e-05 0 2 -1 -1 -1 49,.,. 0.489796,.,. dominant HG002 HG002 chr5:27950156:G:A 1,.,. 6.62278e-06 0 1 -1 -1 -1 47,.,. 0.659574,.,. dominant HG002 HG002 chr5:27953818:A:ACACG 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.588235,.,. dominant HG002 HG002 chr5:27953820:G:A 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.603774,.,. dominant HG002 HG002 chr5:28339491:TTAAGAA:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.361111,.,. dominant HG002 HG002 chr5:28589969:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr5:28762421:T:C 1,.,. 1.31508e-05 0 2 -1 -1 -1 51,.,. 0.568627,.,. dominant HG002 HG002 chr5:28923530:TTTTG:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr5:28932748:A:C 1,.,. 2.40558e-05 0 1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr5:28933438:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr5:28960453:A:G 1,.,. 2.58167e-05 0 3 -1 -1 -1 34,.,. 0.352941,.,. dominant HG002 HG002 chr5:28961858:A:T 1,.,. 6.57419e-06 0 1 -1 -1 -1 32,.,. 0.5,.,. recessive HG002 HG002 chr5:29190679:T:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr5:29194299:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr5:29194301:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr5:29194303:A:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr5:29284061:C:CGTGT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr5:29435846:ATTT:A 1,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.35,.,. dominant HG002 HG002 chr5:29435851:G:T 1,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.366667,.,. dominant HG002 HG002 chr5:29435860:G:A 1,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.366667,.,. dominant HG002 HG002 chr5:29477284:AGC:A 1,.,. 2.16995e-05 0 3 -1 -1 -1 54,.,. 0.481481,.,. dominant HG002 HG002 chr5:29477287:A:C 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.464286,.,. dominant HG002 HG002 chr5:29669663:G:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.470588,.,. dominant HG002 HG002 chr5:29815038:A:AAGAGAGAGAGAGAG 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr5:29858621:C:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.4375,.,. dominant HG002 HG002 chr5:29910899:C:G 1,.,. 2.63033e-05 0 4 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr5:29955097:TTG:T 1,.,. 1.8843e-05 0 1 -1 -1 -1 46,.,. 0.521739,.,. recessive HG002 HG002 chr5:30284044:A:AGAACT 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr5:30284045:C:T 2,.,. 1.32186e-05 0 2 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr5:30815491:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr5:30864808:G:A 1,.,. 6.57436e-06 0 1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr5:30896897:G:A 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.527273,.,. dominant HG002 HG002 chr5:31042925:C:CATAT 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr5:31375480:G:GGTTTTT 1,.,. -1 -1 -1 0.000700771 0 2 31,.,. 0.483871,.,. dominant HG002 HG002 chr5:31689288:T:TATATAC 1,.,. -1 -1 -1 -1 -1 -1 PDZD2 50_intron 42,.,. 0.595238,.,. PDZD2/intron/ 0.9924 0.3806 0.4670 1 dominant HG002 HG002 chr5:31689290:C:T 1,.,. -1 -1 -1 -1 -1 -1 PDZD2 50_intron 42,.,. 0.595238,.,. PDZD2/intron/ 0.9924 0.3806 0.4670 1 dominant HG002 HG002 chr5:31908706:GAGCCCCTTGCA:G 1,.,. -1 -1 -1 -1 -1 -1 PDZD2;TPT1P5 50_intron 36,.,. 0.472222,.,. PDZD2/intron/;PDZD2/non_coding/;TPT1P5/non_coding/ 0.9924 0.3806 0.4670 1 dominant HG002 HG002 chr5:31908719:T:A 1,.,. -1 -1 -1 -1 -1 -1 PDZD2;TPT1P5 50_intron 36,.,. 0.472222,.,. PDZD2/intron/;PDZD2/non_coding/;TPT1P5/non_coding/ 0.9924 0.3806 0.4670 1 recessive HG002 HG002 chr5:31938624:C:T 2,.,. -1 -1 -1 -1 -1 -1 PDZD2 50_intron 45,.,. 1,.,. PDZD2/intron/;PDZD2/non_coding/ 0.9924 0.3806 0.4670 1 recessive HG002 HG002 chr5:31938626:T:G 2,.,. -1 -1 -1 -1 -1 -1 PDZD2 50_intron 44,.,. 1,.,. PDZD2/intron/;PDZD2/non_coding/ 0.9924 0.3806 0.4670 1 dominant HG002 HG002 chr5:31949443:C:T 1,.,. 1.97153e-05 0 3 -1 -1 -1 PDZD2 50_intron 37,.,. 0.648649,.,. PDZD2/intron/;PDZD2/non_coding/ 0.9924 0.3806 0.4670 1 dominant HG002 HG002 chr5:32020653:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 PDZD2 50_intron 27,.,. 0.407407,.,. PDZD2/intron/;PDZD2/non_coding/ 0.9924 0.3806 0.4670 1 dominant HG002 HG002 chr5:32510425:G:GGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr5:32793303:A:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr5:32811667:G:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr5:32826649:G:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.617647,.,. dominant HG002 HG002 chr5:32956873:G:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.538462,.,. dominant HG002 HG002 chr5:33327960:T:C 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.509804,.,. dominant HG002 HG002 chr5:33519260:T:TAACTGAATCA 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr5:33519261:G:T 1,.,. 6.58129e-06 0 1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr5:33827165:C:CCTG 1,.,. -1 -1 -1 -1 -1 -1 ADAMTS12 50_intron 45,.,. 0.4,.,. ADAMTS12/intron/;ADAMTS12/non_coding/ 0.0000 0.6718 0.7820 3 recessive HG002 HG002 chr5:34251505:A:G 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr5:34251506:T:G 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr5:34251507:GCCATTAAGATT:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr5:34251519:T:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr5:34341254:T:TATGATTTTAGCC 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr5:34341255:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr5:34341257:T:A 2,.,. 4.18025e-05 0 2 -1 -1 -1 48,.,. 1,.,. dominant HG002 HG002 chr5:34638542:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.352941,.,. dominant HG002 HG002 chr5:34690755:AGCATTATG:A 1,.,. -1 -1 -1 -1 -1 -1 RAI14 50_intron 34,.,. 0.382353,.,. RAI14/intron/;RAI14/non_coding/ 0.6273 0.3967 0.5180 1 dominant HG002 HG002 chr5:34690765:A:T 1,.,. -1 -1 -1 -1 -1 -1 RAI14 50_intron 34,.,. 0.382353,.,. RAI14/intron/;RAI14/non_coding/ 0.6273 0.3967 0.5180 1 dominant HG002 HG002 chr5:35445348:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr5:35565653:C:A 1,.,. -1 -1 -1 0.00140154 0 4 47,.,. 0.489362,.,. dominant HG002 HG002 chr5:35650900:C:A 1,.,. -1 -1 -1 -1 -1 -1 SPEF2 50_intron 48,.,. 0.5625,.,. SPEF2/intron/;SPEF2/non_coding/ 0.0000 0.8060 0.9230 4 Spermatogenic failure 43 0.000 dominant HG002 HG002 chr5:35650901:A:G 1,.,. -1 -1 -1 -1 -1 -1 SPEF2 50_intron 49,.,. 0.55102,.,. SPEF2/intron/;SPEF2/non_coding/ 0.0000 0.8060 0.9230 4 Spermatogenic failure 43 0.000 dominant HG002 HG002 chr5:35650902:G:T 1,.,. -1 -1 -1 -1 -1 -1 SPEF2 50_intron 48,.,. 0.5625,.,. SPEF2/intron/;SPEF2/non_coding/ 0.0000 0.8060 0.9230 4 Spermatogenic failure 43 0.000 dominant HG002 HG002 chr5:35650904:A:ATGTAAT 1,.,. -1 -1 -1 -1 -1 -1 SPEF2 50_intron 49,.,. 0.55102,.,. SPEF2/intron/;SPEF2/non_coding/ 0.0000 0.8060 0.9230 4 Spermatogenic failure 43 0.000 dominant HG002 HG002 chr5:35650905:G:A 1,.,. -1 -1 -1 -1 -1 -1 SPEF2 50_intron 49,.,. 0.55102,.,. SPEF2/intron/;SPEF2/non_coding/ 0.0000 0.8060 0.9230 4 Spermatogenic failure 43 0.000 dominant HG002 HG002 chr5:35688241:CTTCT:C 1,.,. 1.04784e-05 0 1 -1 -1 -1 SPEF2 50_intron 37,.,. 0.432432,.,. SPEF2/intron/;SPEF2/non_coding/ 0.0000 0.8060 0.9230 4 Spermatogenic failure 43 0.000 dominant HG002 HG002 chr5:35688248:C:T 1,.,. -1 -1 -1 -1 -1 -1 SPEF2 50_intron 36,.,. 0.472222,.,. SPEF2/intron/;SPEF2/non_coding/ 0.0000 0.8060 0.9230 4 Spermatogenic failure 43 0.000 dominant HG002 HG002 chr5:35722463:TTG:T 1,.,. 2.13904e-05 0 3 -1 -1 -1 SPEF2 50_intron 33,.,. 0.393939,.,. SPEF2/intron/ 0.0000 0.8060 0.9230 4 Spermatogenic failure 43 0.000 dominant HG002 HG002 chr5:35722466:T:G 1,.,. -1 -1 -1 -1 -1 -1 SPEF2 50_intron 32,.,. 0.5,.,. SPEF2/intron/ 0.0000 0.8060 0.9230 4 Spermatogenic failure 43 0.000 recessive HG002 HG002 chr5:35745562:GCCTC:G 2,.,. -1 -1 -1 -1 -1 -1 SPEF2 50_intron 38,.,. 1,.,. SPEF2/intron/ 0.0000 0.8060 0.9230 4 Spermatogenic failure 43 0.000 recessive HG002 HG002 chr5:35745568:G:C 2,.,. -1 -1 -1 -1 -1 -1 SPEF2 50_intron 38,.,. 1,.,. SPEF2/intron/ 0.0000 0.8060 0.9230 4 Spermatogenic failure 43 0.000 recessive HG002 HG002 chr5:35745569:C:A 2,.,. -1 -1 -1 -1 -1 -1 SPEF2 50_intron 38,.,. 1,.,. SPEF2/intron/ 0.0000 0.8060 0.9230 4 Spermatogenic failure 43 0.000 dominant HG002 HG002 chr5:35939393:TCTGACACACACACA:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr5:35939408:C:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. recessive HG002 HG002 chr5:35944045:G:GGAATC 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr5:35944046:T:C 2,.,. 2.20264e-05 0 3 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr5:35993914:C:A 1,.,. 3.08242e-05 0 1 -1 -1 -1 UGT3A1 50_intron 37,.,. 0.351351,.,. UGT3A1/intron/ 0.0000 0.9279 1.2520 7 dominant HG002 HG002 chr5:36548221:C:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.490196,.,. dominant HG002 HG002 chr5:37094008:GTGGAGC:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr5:37094016:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr5:37116485:CAAAAAAAA:C 1,.,. -1 -1 -1 0.000700771 0 2 CPLANE1 50_intron 22,.,. 0.5,.,. CPLANE1/intron/;CPLANE1/non_coding/ 0.0000 0.6431 0.7280 2 Joubert syndrome 17;Orofaciodigital syndrome type 6 0.000 dominant HG002 HG002 chr5:37296556:C:CCGGAA 1,.,. -1 -1 -1 -1 -1 -1 NUP155 50_intron 28,.,. 0.392857,.,. NUP155/intron/;NUP155/non_coding/ 0.9951 0.3580 0.4730 1 Atrial fibrillation, familial, 15 0.000 dominant HG002 HG002 chr5:37296557:A:G 1,.,. -1 -1 -1 -1 -1 -1 NUP155 50_intron 29,.,. 0.413793,.,. NUP155/intron/;NUP155/non_coding/ 0.9951 0.3580 0.4730 1 Atrial fibrillation, familial, 15 0.000 dominant HG002 HG002 chr5:37499599:C:T 1,.,. -1 -1 -1 -1 -1 -1 WDR70 50_intron 40,.,. 0.5,.,. WDR70/intron/;WDR70/non_coding/ 0.0000 0.5681 0.7300 2 dominant HG002 HG002 chr5:37706737:A:ACACACACG 1,.,. -1 -1 -1 -1 -1 -1 WDR70 50_intron 51,.,. 0.431373,.,. WDR70/non_coding/;WDR70/intron/ 0.0000 0.5681 0.7300 2 dominant HG002 HG002 chr5:37812820:GGT:G 1,.,. -1 -1 -1 -1 -1 -1 GDNF 36_3_prime_utr 33,.,. 0.484848,.,. GDNF/3_prime_utr/ENST00000620847;GDNF/3_prime_utr/ENST00000344622;GDNF/3_prime_utr/ENST00000326524 0.5975 0.3446 0.7250 2 Hirschsprung disease, susceptibility to, 3 0.000 dominant HG002 HG002 chr5:37812823:A:T 1,.,. -1 -1 -1 -1 -1 -1 GDNF 36_3_prime_utr 33,.,. 0.484848,.,. GDNF/3_prime_utr/ENST00000620847;GDNF/3_prime_utr/ENST00000344622;GDNF/3_prime_utr/ENST00000326524 0.5975 0.3446 0.7250 2 Hirschsprung disease, susceptibility to, 3 0.000 recessive HG002 HG002 chr5:37873054:C:T 2,.,. 0.000132475 0 20 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr5:37873057:A:C 2,.,. 0.000326872 0 20 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr5:37874337:AGAGT:A 1,.,. 4.86713e-05 0 3 -1 -1 -1 43,.,. 0.55814,.,. dominant HG002 HG002 chr5:38152459:T:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. recessive HG002 HG002 chr5:38379196:G:A 2,.,. -1 -1 -1 -1 -1 -1 EGFLAM 50_intron 32,.,. 1,.,. EGFLAM/intron/ 0.0000 0.6860 0.8300 3 recessive HG002 HG002 chr5:38379197:A:G 2,.,. -1 -1 -1 -1 -1 -1 EGFLAM 50_intron 32,.,. 1,.,. EGFLAM/intron/ 0.0000 0.6860 0.8300 3 recessive HG002 HG002 chr5:38379198:C:T 2,.,. -1 -1 -1 -1 -1 -1 EGFLAM 50_intron 32,.,. 1,.,. EGFLAM/intron/ 0.0000 0.6860 0.8300 3 recessive HG002 HG002 chr5:38379199:T:C 2,.,. -1 -1 -1 -1 -1 -1 EGFLAM 50_intron 32,.,. 1,.,. EGFLAM/intron/ 0.0000 0.6860 0.8300 3 dominant HG002 HG002 chr5:38511959:G:C 1,.,. -1 -1 -1 -1 -1 -1 LIFR 30_synonymous 39,.,. 0.538462,.,. LIFR/synonymous/ENST00000453190;LIFR/synonymous/ENST00000263409 0.0000 0.6275 0.7980 3 Stüve-Wiedemann syndrome 1 0.000 recessive HG002 HG002 chr5:38596543:TAG:T 2,.,. -1 -1 -1 -1 -1 -1 LIFR 53_non_coding 34,.,. 1,.,. LIFR/non_coding/ 0.0000 0.6275 0.7980 3 Stüve-Wiedemann syndrome 1 0.000 recessive HG002 HG002 chr5:38596546:A:G 2,.,. -1 -1 -1 -1 -1 -1 LIFR 53_non_coding 34,.,. 1,.,. LIFR/non_coding/ 0.0000 0.6275 0.7980 3 Stüve-Wiedemann syndrome 1 0.000 recessive HG002 HG002 chr5:38711599:G:A 2,.,. 0.000659338 0 98 0.00455501 0 13 37,.,. 1,.,. dominant HG002 HG002 chr5:39499576:T:TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTTTCCTTCCTTCCTTCCGTCCTTTCCCTCCCTCCCTCCC 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.277778,.,. dominant HG002 HG002 chr5:39651082:G:GATA 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr5:39651083:T:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr5:40643458:G:A 1,.,. -1 -1 -1 -1 -1 -1 TTC33 50_intron 34,.,. 0.617647,.,. TTC33/intron/ 0.0000 0.7550 1.1320 6 dominant HG002 HG002 chr5:40794876:G:T 1,.,. -1 -1 -1 -1 -1 -1 PRKAA1 50_intron 26,.,. 0.461538,.,. PRKAA1/intron/;PRKAA1/non_coding/ 0.4318 0.4003 0.5760 1 recessive HG002 HG002 chr5:40809227:A:AAC 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr5:40809228:C:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr5:41005425:C:CCCTCCT 1,.,. -1 -1 -1 -1 -1 -1 MROH2B 50_intron 34,.,. 0.382353,.,. MROH2B/intron/;MROH2B/non_coding/ 0.0000 0.8906 1.0200 5 dominant HG002 HG002 chr5:41038405:G:A 1,.,. -1 -1 -1 -1 -1 -1 MROH2B 50_intron 50,.,. 0.46,.,. MROH2B/intron/;MROH2B/non_coding/ 0.0000 0.8906 1.0200 5 dominant HG002 HG002 chr5:41105093:T:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. recessive HG002 HG002 chr5:41119556:T:G 2,.,. 0.00025863 0 34 0.0213735 0 61 53,.,. 0.981132,.,. dominant HG002 HG002 chr5:41204825:A:T 1,.,. -1 -1 -1 -1 -1 -1 C6 50_intron 37,.,. 0.405405,.,. C6/intron/ 0.0000 0.8482 1.0080 5 Complement component 6 deficiency 0.000 dominant HG002 HG002 chr5:41461708:C:T 1,.,. -1 -1 -1 -1 -1 -1 PLCXD3 50_intron 40,.,. 0.325,.,. PLCXD3/intron/ 0.0000 0.7159 1.0500 5 dominant HG002 HG002 chr5:41465353:CTTTTTTTTTTTTTT:C 1,.,. -1 -1 -1 -1 -1 -1 PLCXD3 50_intron 22,.,. 0.409091,.,. PLCXD3/intron/ 0.0000 0.7159 1.0500 5 dominant HG002 HG002 chr5:41603909:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr5:41971232:G:GTGTA 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr5:42001213:TGTCATTCA:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.480769,.,. dominant HG002 HG002 chr5:42001222:T:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.480769,.,. dominant HG002 HG002 chr5:42027324:AACT:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.6,.,. dominant HG002 HG002 chr5:42027330:G:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.6,.,. dominant HG002 HG002 chr5:42027331:A:G 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.6,.,. dominant HG002 HG002 chr5:42670878:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 GHR 50_intron 44,.,. 0.386364,.,. GHR/intron/ 0.1573 0.4283 0.6500 2 Hypercholesterolemia, familial, 1;Laron-type isolated somatotropin defect;Short stature due to partial GHR deficiency 0.000 dominant HG002 HG002 chr5:42728272:C:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr5:43043684:T:TTTTTATATATTATATAAAATATATAAATATATA 1,.,. -1 -1 -1 -1 -1 -1 AC025171.2 53_non_coding 48,.,. 0.291667,.,. AC025171.2/non_coding/ dominant HG002 HG002 chr5:43143547:G:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF131 50_intron 36,.,. 0.472222,.,. ZNF131/intron/;ZNF131/non_coding/ 1.0000 0.0961 0.1900 0 dominant HG002 HG002 chr5:43436569:C:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. recessive HG002 HG002 chr5:44933898:C:CGT 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. dominant HG002 HG002 chr5:45369101:T:A 1,.,. -1 -1 -1 -1 -1 -1 HCN1 50_intron 42,.,. 0.666667,.,. HCN1/intron/;HCN1/non_coding/ 1.0000 0.2066 0.3290 0 Developmental and epileptic encephalopathy, 24;Generalized epilepsy with febrile seizures plus, type 10 0.000 dominant HG002 HG002 chr5:45370495:C:A 1,.,. -1 -1 -1 -1 -1 -1 HCN1 50_intron 42,.,. 0.642857,.,. HCN1/intron/;HCN1/non_coding/ 1.0000 0.2066 0.3290 0 Developmental and epileptic encephalopathy, 24;Generalized epilepsy with febrile seizures plus, type 10 0.000 dominant HG002 HG002 chr5:45389888:C:T 1,.,. -1 -1 -1 -1 -1 -1 HCN1 50_intron 51,.,. 0.470588,.,. HCN1/intron/;HCN1/non_coding/ 1.0000 0.2066 0.3290 0 Developmental and epileptic encephalopathy, 24;Generalized epilepsy with febrile seizures plus, type 10 0.000 recessive HG002 HG002 chr5:46667107:G:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr5:46667137:C:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr5:46667148:A:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr5:46667211:T:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr5:46864168:G:T 2,.,. -1 -1 -1 0.00385424 4 11 10,.,. 1,.,. recessive HG002 HG002 chr5:46864750:A:T 2,.,. -1 -1 -1 0.00210231 2 6 9,.,. 1,.,. recessive HG002 HG002 chr5:46864753:C:T 2,.,. -1 -1 -1 0.00350385 2 10 9,.,. 1,.,. recessive HG002 HG002 chr5:46864861:A:G 2,.,. -1 -1 -1 0.00385424 2 11 9,.,. 1,.,. recessive HG002 HG002 chr5:46864975:T:G 2,.,. -1 -1 -1 0.00315347 2 9 9,.,. 1,.,. recessive HG002 HG002 chr5:46865077:G:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr5:47158068:G:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr5:47212400:T:C 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr5:47213657:G:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr5:47221021:G:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr5:47221238:G:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr5:47221291:C:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr5:47221566:G:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr5:47225699:C:A 2,.,. -1 -1 -1 0.00210231 3 6 14,.,. 1,.,. recessive HG002 HG002 chr5:49602903:C:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr5:49602936:G:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr5:49661661:G:T 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 1,.,. recessive HG002 HG002 chr5:49714872:G:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr5:49714898:C:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr5:49789669:G:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr5:49821343:T:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr5:49826153:T:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr5:49826157:A:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr5:49995187:T:C 1,.,. -1 -1 -1 -1 -1 -1 412,.,. 0.359223,.,. dominant HG002 HG002 chr5:49996551:T:A 1,.,. -1 -1 -1 -1 -1 -1 489,.,. 0.382413,.,. dominant HG002 HG002 chr5:49997137:G:C 1,.,. -1 -1 -1 -1 -1 -1 462,.,. 0.339827,.,. dominant HG002 HG002 chr5:49997162:C:T 1,.,. -1 -1 -1 -1 -1 -1 465,.,. 0.348387,.,. dominant HG002 HG002 chr5:49997168:G:A 1,.,. -1 -1 -1 -1 -1 -1 467,.,. 0.336188,.,. dominant HG002 HG002 chr5:49997197:A:T 1,.,. -1 -1 -1 -1 -1 -1 463,.,. 0.328294,.,. dominant HG002 HG002 chr5:49997224:G:T 1,.,. -1 -1 -1 -1 -1 -1 463,.,. 0.336933,.,. dominant HG002 HG002 chr5:49999152:C:T 1,.,. -1 -1 -1 -1 -1 -1 516,.,. 0.391473,.,. dominant HG002 HG002 chr5:49999211:G:A 1,.,. -1 -1 -1 -1 -1 -1 510,.,. 0.4,.,. dominant HG002 HG002 chr5:50000274:T:A 1,.,. -1 -1 -1 -1 -1 -1 497,.,. 0.261569,.,. dominant HG002 HG002 chr5:50000472:G:T 1,.,. -1 -1 -1 -1 -1 -1 455,.,. 0.402198,.,. dominant HG002 HG002 chr5:50000639:G:C 1,.,. -1 -1 -1 -1 -1 -1 489,.,. 0.239264,.,. dominant HG002 HG002 chr5:50000681:G:T 1,.,. -1 -1 -1 -1 -1 -1 491,.,. 0.376782,.,. dominant HG002 HG002 chr5:50001311:T:C 1,.,. -1 -1 -1 -1 -1 -1 504,.,. 0.375,.,. dominant HG002 HG002 chr5:50001366:C:T 1,.,. -1 -1 -1 -1 -1 -1 505,.,. 0.374257,.,. dominant HG002 HG002 chr5:50001425:G:A 1,.,. -1 -1 -1 -1 -1 -1 503,.,. 0.373757,.,. dominant HG002 HG002 chr5:50001440:A:C 1,.,. -1 -1 -1 -1 -1 -1 510,.,. 0.370588,.,. dominant HG002 HG002 chr5:50001565:G:C 1,.,. -1 -1 -1 -1 -1 -1 484,.,. 0.332645,.,. dominant HG002 HG002 chr5:50001590:C:T 1,.,. -1 -1 -1 -1 -1 -1 485,.,. 0.364948,.,. dominant HG002 HG002 chr5:50001596:G:A 1,.,. -1 -1 -1 -1 -1 -1 484,.,. 0.330579,.,. dominant HG002 HG002 chr5:50001625:A:T 1,.,. -1 -1 -1 -1 -1 -1 486,.,. 0.329218,.,. dominant HG002 HG002 chr5:50001652:G:T 1,.,. -1 -1 -1 -1 -1 -1 482,.,. 0.33195,.,. dominant HG002 HG002 chr5:50001833:T:C 1,.,. -1 -1 -1 -1 -1 -1 485,.,. 0.327835,.,. recessive HG002 HG002 chr5:50015212:C:G 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr5:50040820:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr5:50040823:A:T 2,.,. -1 -1 -1 0.0049054 0 14 55,.,. 1,.,. recessive HG002 HG002 chr5:50568898:C:CTGTTAGATAT 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr5:50568900:A:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr5:50568901:A:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr5:50588570:C:T 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.581818,.,. recessive HG002 HG002 chr5:50632811:A:AAAAAAG 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr5:50632812:G:A 2,.,. 0.00837821 3 1061 0.0024527 0 7 39,.,. 1,.,. dominant HG002 HG002 chr5:50774503:G:A 1,.,. -1 -1 -1 0.00105116 0 3 PARP8 50_intron 34,.,. 0.470588,.,. PARP8/non_coding/;PARP8/intron/ 0.0044 0.4570 0.6060 2 recessive HG002 HG002 chr5:50940758:C:T 2,.,. 0.000112095 4 16 0.000700771 0 2 19,.,. 1,.,. dominant HG002 HG002 chr5:51155015:A:ATGTT 1,.,. 7.03561e-06 0 1 -1 -1 -1 48,.,. 0.479167,.,. recessive HG002 HG002 chr5:51925604:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chr5:51972225:T:G 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.442308,.,. dominant HG002 HG002 chr5:52584861:G:A 1,.,. 6.65318e-06 0 1 -1 -1 -1 54,.,. 0.555556,.,. dominant HG002 HG002 chr5:52599894:C:T 1,.,. 1.31458e-05 0 2 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr5:53093115:A:C 1,.,. -1 -1 -1 -1 -1 -1 ITGA2 36_3_prime_utr 39,.,. 0.666667,.,. ITGA2/3_prime_utr/ENST00000296585 0.0000 0.6515 0.7890 3 0.000 dominant HG002 HG002 chr5:53093116:C:A 1,.,. -1 -1 -1 -1 -1 -1 ITGA2 36_3_prime_utr 39,.,. 0.666667,.,. ITGA2/3_prime_utr/ENST00000296585 0.0000 0.6515 0.7890 3 0.000 dominant HG002 HG002 chr5:53093118:A:T 1,.,. -1 -1 -1 -1 -1 -1 ITGA2 36_3_prime_utr 40,.,. 0.65,.,. ITGA2/3_prime_utr/ENST00000296585 0.0000 0.6515 0.7890 3 0.000 dominant HG002 HG002 chr5:53136132:A:C 1,.,. 2.68179e-05 0 4 -1 -1 -1 55,.,. 0.309091,.,. dominant HG002 HG002 chr5:53413710:T:TG 1,.,. -1 -1 -1 0.00140154 0 4 AC108114.1 53_non_coding 35,.,. 0.457143,.,. AC108114.1/non_coding/ dominant HG002 HG002 chr5:53765114:G:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.647059,.,. recessive HG002 HG002 chr5:54023293:A:AGATCTGT 2,.,. 0.000103167 0 2 -1 -1 -1 ARL15 50_intron 35,.,. 1,.,. ARL15/intron/;ARL15/non_coding/ 0.0001 0.8345 1.3040 7 recessive HG002 HG002 chr5:54023298:C:G 2,.,. 0.000912501 0 18 0.00105116 0 3 ARL15 50_intron 35,.,. 1,.,. ARL15/intron/;ARL15/non_coding/ 0.0001 0.8345 1.3040 7 dominant HG002 HG002 chr5:54539262:C:CTCTGA 1,.,. -1 -1 -1 -1 -1 -1 SNX18 50_intron 23,.,. 0.521739,.,. SNX18/intron/ 0.0000 0.8259 1.1000 5 dominant HG002 HG002 chr5:54575948:A:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.617647,.,. dominant HG002 HG002 chr5:55235643:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.586207,.,. dominant HG002 HG002 chr5:55444741:T:TTGTGTGTGTGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 PLPP1 50_intron 36,.,. 0.416667,.,. PLPP1/intron/;PLPP1/non_coding/ 0.0000 0.7609 1.0700 5 dominant HG002 HG002 chr5:55811713:G:A 1,.,. 1.97119e-05 0 3 -1 -1 -1 DDX4 50_intron 41,.,. 0.609756,.,. DDX4/intron/ 1.0000 0.2053 0.3400 0 dominant HG002 HG002 chr5:56007672:A:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.377778,.,. dominant HG002 HG002 chr5:56007675:TATG:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr5:56017120:TCTTATATTTTTA:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.3,.,. dominant HG002 HG002 chr5:56017136:T:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.310345,.,. recessive HG002 HG002 chr5:56134481:G:A 2,.,. -1 -1 -1 0.00210231 3 6 ANKRD55 50_intron 9,.,. 1,.,. ANKRD55/intron/;ANKRD55/non_coding/ 0.0000 0.6432 0.8430 3 0.000 dominant HG002 HG002 chr5:56145212:G:T 1,.,. -1 -1 -1 -1 -1 -1 ANKRD55 50_intron 37,.,. 0.405405,.,. ANKRD55/intron/;ANKRD55/non_coding/ 0.0000 0.6432 0.8430 3 0.000 dominant HG002 HG002 chr5:56282080:G:A 1,.,. -1 -1 -1 0.00105116 0 3 27,.,. 0.37037,.,. dominant HG002 HG002 chr5:56282082:GAA:G 1,.,. -1 -1 -1 0.00140154 0 4 27,.,. 0.37037,.,. dominant HG002 HG002 chr5:56349012:A:AAAATAAATAAATAAAT 1,.,. 6.64655e-06 0 1 -1 -1 -1 50,.,. 0.5,.,. dominant HG002 HG002 chr5:57024017:C:T 1,.,. 1.31857e-05 0 2 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr5:57356589:T:G 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.428571,.,. recessive HG002 HG002 chr5:58986460:AACTGG:A 2,.,. -1 -1 -1 -1 -1 -1 PDE4D 50_intron 37,.,. 1,.,. PDE4D/intron/;PDE4D/non_coding/ 0.9999 0.2581 0.4030 1 Acrodysostosis 2 with or without hormone resistance 0.000 recessive HG002 HG002 chr5:58986467:C:G 2,.,. -1 -1 -1 -1 -1 -1 PDE4D 50_intron 37,.,. 1,.,. PDE4D/intron/;PDE4D/non_coding/ 0.9999 0.2581 0.4030 1 Acrodysostosis 2 with or without hormone resistance 0.000 dominant HG002 HG002 chr5:59278418:T:A 1,.,. -1 -1 -1 -1 -1 -1 PDE4D 50_intron 41,.,. 0.414634,.,. PDE4D/intron/;PDE4D/non_coding/ 0.9999 0.2581 0.4030 1 Acrodysostosis 2 with or without hormone resistance 0.000 dominant HG002 HG002 chr5:59386536:TGGGCATGG:T 1,.,. -1 -1 -1 -1 -1 -1 PDE4D 50_intron 27,.,. 0.444444,.,. PDE4D/intron/;PDE4D/non_coding/ 0.9999 0.2581 0.4030 1 Acrodysostosis 2 with or without hormone resistance 0.000 dominant HG002 HG002 chr5:59386545:T:A 1,.,. -1 -1 -1 -1 -1 -1 PDE4D 50_intron 27,.,. 0.444444,.,. PDE4D/intron/;PDE4D/non_coding/ 0.9999 0.2581 0.4030 1 Acrodysostosis 2 with or without hormone resistance 0.000 dominant HG002 HG002 chr5:59762269:T:C 1,.,. -1 -1 -1 0.000700771 0 2 PDE4D 50_intron 38,.,. 0.394737,.,. PDE4D/intron/;PDE4D/non_coding/ 0.9999 0.2581 0.4030 1 Acrodysostosis 2 with or without hormone resistance 0.000 dominant HG002 HG002 chr5:60246021:ACCCCATGCCTGT:A 1,.,. -1 -1 -1 -1 -1 -1 PDE4D 50_intron 53,.,. 0.45283,.,. PDE4D/intron/;PDE4D/non_coding/ 0.9999 0.2581 0.4030 1 Acrodysostosis 2 with or without hormone resistance 0.000 dominant HG002 HG002 chr5:60246034:A:T 1,.,. -1 -1 -1 -1 -1 -1 PDE4D 50_intron 54,.,. 0.444444,.,. PDE4D/intron/;PDE4D/non_coding/ 0.9999 0.2581 0.4030 1 Acrodysostosis 2 with or without hormone resistance 0.000 dominant HG002 HG002 chr5:61251115:A:AGAAGAG 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr5:61256792:G:A 1,.,. 1.3138e-05 0 2 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr5:62072851:A:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr5:63084639:A:C 1,.,. 2.6307e-05 0 3 -1 -1 -1 46,.,. 0.543478,.,. recessive HG002 HG002 chr5:63149310:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr5:65053340:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr5:65168608:G:C 1,.,. -1 -1 -1 0.00105116 0 3 ADAMTS6 50_intron 26,.,. 0.576923,.,. ADAMTS6/intron/;ADAMTS6/non_coding/ 1.0000 0.1596 0.2280 0 dominant HG002 HG002 chr5:65587875:C:CATAG 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr5:66018566:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 ERBIN 50_intron 59,.,. 0.440678,.,. ERBIN/intron/ 0.7234 0.3898 0.5260 1 dominant HG002 HG002 chr5:66532655:C:CCA 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.625,.,. dominant HG002 HG002 chr5:66532659:A:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.625,.,. dominant HG002 HG002 chr5:67028163:A:AACAAAAGTTGTTGTGTT 1,.,. -1 -1 -1 -1 -1 -1 MAST4 50_intron 49,.,. 0.489796,.,. MAST4/intron/ 0.0000 0.5450 0.6600 2 dominant HG002 HG002 chr5:67028165:G:A 1,.,. -1 -1 -1 -1 -1 -1 MAST4 50_intron 49,.,. 0.489796,.,. MAST4/intron/ 0.0000 0.5450 0.6600 2 dominant HG002 HG002 chr5:67028166:A:G 1,.,. -1 -1 -1 -1 -1 -1 MAST4 50_intron 49,.,. 0.489796,.,. MAST4/intron/ 0.0000 0.5450 0.6600 2 dominant HG002 HG002 chr5:67328055:T:G 1,.,. 3.53413e-05 0 4 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr5:67388921:C:CGT 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr5:68654101:C:T 1,.,. 2.62854e-05 0 4 -1 -1 -1 41,.,. 0.487805,.,. recessive HG002 HG002 chr5:69075875:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr5:69127479:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 SLC30A5 50_intron 35,.,. 0.428571,.,. SLC30A5/intron/ 0.0172 0.4677 0.6730 2 dominant HG002 HG002 chr5:69127485:A:T 1,.,. -1 -1 -1 0.000700771 0 2 SLC30A5 50_intron 34,.,. 0.441176,.,. SLC30A5/intron/ 0.0172 0.4677 0.6730 2 dominant HG002 HG002 chr5:69140683:G:C 1,.,. 6.5716e-06 0 1 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr5:69373717:A:T 1,.,. -1 -1 -1 -1 -1 -1 RAD17 50_intron 33,.,. 0.515152,.,. RAD17/non_coding/;RAD17/intron/ 0.8064 0.3823 0.5270 1 dominant HG002 HG002 chr5:69561564:G:A 1,.,. -1 -1 -1 -1 -1 -1 GTF2H2C 50_intron 33,.,. 0.454545,.,. GTF2H2C/intron/;GTF2H2C/non_coding/ 0.8579 0.1329 0.6300 2 recessive HG002 HG002 chr5:69945457:GTATA:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chr5:71400451:T:C 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.54717,.,. dominant HG002 HG002 chr5:71743611:T:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr5:71743614:G:A 1,.,. 8.15581e-06 0 1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr5:72554306:T:G 1,.,. 5.25127e-05 0 4 -1 -1 -1 45,.,. 0.511111,.,. recessive HG002 HG002 chr5:73113299:GGCCT:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr5:73139821:G:GACACAC 1,.,. 1.485e-05 0 1 -1 -1 -1 28,.,. 0.5,.,. dominant HG002 HG002 chr5:73388580:GATTAGT:G 1,.,. -1 -1 -1 -1 -1 -1 AC099522.1 53_non_coding 45,.,. 0.422222,.,. AC099522.1/non_coding/ dominant HG002 HG002 chr5:73388589:C:A 1,.,. -1 -1 -1 -1 -1 -1 AC099522.1 53_non_coding 45,.,. 0.422222,.,. AC099522.1/non_coding/ dominant HG002 HG002 chr5:73388590:T:C 1,.,. -1 -1 -1 -1 -1 -1 AC099522.1 53_non_coding 45,.,. 0.422222,.,. AC099522.1/non_coding/ recessive HG002 HG002 chr5:73519729:ACACG:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr5:73519735:A:G 2,.,. 2.0086e-05 0 1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr5:73589813:AGTT:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr5:73589819:C:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr5:75352254:T:A 1,.,. 1.39805e-05 0 2 -1 -1 -1 HMGCR 50_intron 49,.,. 0.530612,.,. HMGCR/intron/ 0.9994 0.3155 0.4470 1 Muscular dystrophy, limb-girdle, autosomal recessive 28;Low density lipoprotein cholesterol level quantitative trait locus 3 dominant HG002 HG002 chr5:75364163:G:A 1,.,. 2.64718e-05 0 4 -1 -1 -1 CERT1 50_intron 40,.,. 0.375,.,. CERT1/intron/ 0.1030 0.4376 0.6560 2 Intellectual disability, autosomal dominant 34 0.000 recessive HG002 HG002 chr5:76667160:T:TGAGTA 2,.,. 9.45609e-06 0 1 -1 -1 -1 IQGAP2 50_intron 34,.,. 1,.,. IQGAP2/intron/ 0.0000 0.8438 1.0060 5 recessive HG002 HG002 chr5:76667167:G:A 2,.,. -1 -1 -1 -1 -1 -1 IQGAP2 50_intron 34,.,. 1,.,. IQGAP2/intron/ 0.0000 0.8438 1.0060 5 dominant HG002 HG002 chr5:76861382:C:G 1,.,. -1 -1 -1 -1 -1 -1 S100Z 50_intron 30,.,. 0.533333,.,. S100Z/intron/ 0.0402 1.0170 1.8620 9 recessive HG002 HG002 chr5:77043593:C:CCT 2,.,. -1 -1 -1 -1 -1 -1 AGGF1;AC008581.2 50_intron 41,.,. 1,.,. AGGF1/intron/;AC008581.2/intron/ 0.0000 0.6264 0.8080 3 0.000 dominant HG002 HG002 chr5:77552019:A:T 1,.,. -1 -1 -1 -1 -1 -1 WDR41 50_intron 34,.,. 0.529412,.,. WDR41/intron/;WDR41/non_coding/ 0.0000 0.8149 1.0450 5 dominant HG002 HG002 chr5:78704921:A:T 1,.,. -1 -1 -1 -1 -1 -1 LHFPL2 53_non_coding 40,.,. 0.425,.,. LHFPL2/non_coding/ 0.3801 0.3967 0.7450 3 dominant HG002 HG002 chr5:78704922:T:A 1,.,. -1 -1 -1 -1 -1 -1 LHFPL2 53_non_coding 40,.,. 0.425,.,. LHFPL2/non_coding/ 0.3801 0.3967 0.7450 3 dominant HG002 HG002 chr5:78711685:A:C 1,.,. 1.31392e-05 0 2 -1 -1 -1 LHFPL2;AC008802.1 53_non_coding 43,.,. 0.395349,.,. LHFPL2/non_coding/;AC008802.1/non_coding/ 0.3801 0.3967 0.7450 3 dominant HG002 HG002 chr5:78856772:T:C 1,.,. 2.62788e-05 0 4 -1 -1 -1 ARSB 50_intron 36,.,. 0.638889,.,. ARSB/intron/ 0.0000 0.8051 1.0320 5 Mucopolysaccharidosis type 6 0.000 dominant HG002 HG002 chr5:78881114:T:C 1,.,. -1 -1 -1 -1 -1 -1 ARSB 50_intron 42,.,. 0.357143,.,. ARSB/intron/ 0.0000 0.8051 1.0320 5 Mucopolysaccharidosis type 6 0.000 dominant HG002 HG002 chr5:78984900:G:GGGCGGGGGCGGCGCGGGCGGCGGGGGCGGCGCGGGCGGCGGGGGCGGCGCGGGCGGCGGGGGCGGCGCGGGCGGCGGGGGCGGCGCGGGCGGCGGGGGCGGCGCGGGC 1,.,. -1 -1 -1 -1 -1 -1 ARSB 50_intron 33,.,. 0.393939,.,. ARSB/intron/ 0.0000 0.8051 1.0320 5 Mucopolysaccharidosis type 6 0.000 dominant HG002 HG002 chr5:79516426:ACGTTG:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr5:79516433:T:G 1,.,. 9.997e-05 0 4 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr5:79565697:G:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr5:79610085:T:C 1,.,. 6.62322e-06 0 1 -1 -1 -1 23,.,. 0.695652,.,. dominant HG002 HG002 chr5:79743464:C:T 1,.,. 1.97156e-05 0 3 -1 -1 -1 CMYA5 50_intron 49,.,. 0.530612,.,. CMYA5/intron/;CMYA5/non_coding/ 0.0000 0.7227 0.8070 3 dominant HG002 HG002 chr5:79825945:GAAGGAGGA:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr5:79825955:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr5:79925083:C:G 1,.,. 2.62843e-05 0 4 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr5:80182551:C:T 1,.,. -1 -1 -1 -1 -1 -1 SERINC5 50_intron 36,.,. 0.472222,.,. SERINC5/intron/;SERINC5/non_coding/ 0.0000 0.6713 0.9110 4 dominant HG002 HG002 chr5:80214494:T:C 1,.,. 1.97681e-05 0 3 -1 -1 -1 SERINC5 50_intron 37,.,. 0.459459,.,. SERINC5/intron/;SERINC5/non_coding/ 0.0000 0.6713 0.9110 4 dominant HG002 HG002 chr5:80357720:T:C 1,.,. 6.59092e-06 0 1 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr5:80490297:G:C 1,.,. 1.9721e-05 0 3 -1 -1 -1 FAM151B 50_intron 41,.,. 0.341463,.,. FAM151B/intron/;FAM151B/non_coding/ 0.0000 0.7243 1.0740 5 dominant HG002 HG002 chr5:80501312:G:A 1,.,. 1.31921e-05 0 2 -1 -1 -1 FAM151B;RPL7P24 50_intron 48,.,. 0.645833,.,. FAM151B/intron/;FAM151B/non_coding/;RPL7P24/non_coding/ 0.0000 0.7243 1.0740 5 dominant HG002 HG002 chr5:80556679:T:C 1,.,. 2.62795e-05 0 4 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr5:80686936:T:C 1,.,. 2.62847e-05 0 4 -1 -1 -1 MSH3 50_intron 46,.,. 0.456522,.,. MSH3/intron/ 0.0000 0.8462 1.0270 5 Familial adenomatous polyposis 4 0.000 dominant HG002 HG002 chr5:80706798:C:G 1,.,. -1 -1 -1 -1 -1 -1 MSH3 50_intron 37,.,. 0.594595,.,. MSH3/intron/ 0.0000 0.8462 1.0270 5 Familial adenomatous polyposis 4 0.000 dominant HG002 HG002 chr5:80962693:A:G 1,.,. 2.63078e-05 0 4 -1 -1 -1 RASGRF2 50_intron 44,.,. 0.5,.,. RASGRF2/intron/ 0.0000 0.5036 0.6140 2 dominant HG002 HG002 chr5:81024175:C:A 1,.,. 2.6678e-05 0 4 -1 -1 -1 RASGRF2 50_intron 28,.,. 0.321429,.,. RASGRF2/intron/;RASGRF2/non_coding/ 0.0000 0.5036 0.6140 2 dominant HG002 HG002 chr5:81045668:C:T 1,.,. -1 -1 -1 -1 -1 -1 RASGRF2 50_intron 32,.,. 0.65625,.,. RASGRF2/intron/;RASGRF2/non_coding/ 0.0000 0.5036 0.6140 2 dominant HG002 HG002 chr5:81045669:T:TTGTTCTCAAGTCAA 1,.,. -1 -1 -1 -1 -1 -1 RASGRF2 50_intron 32,.,. 0.65625,.,. RASGRF2/intron/;RASGRF2/non_coding/ 0.0000 0.5036 0.6140 2 dominant HG002 HG002 chr5:81196462:G:T 1,.,. 6.57082e-06 0 1 -1 -1 -1 RASGRF2 50_intron 44,.,. 0.409091,.,. RASGRF2/intron/ 0.0000 0.5036 0.6140 2 dominant HG002 HG002 chr5:81387019:C:T 1,.,. -1 -1 -1 0.00140154 0 4 ACOT12 50_intron 52,.,. 0.538462,.,. ACOT12/intron/ 0.0000 0.7288 0.9200 4 dominant HG002 HG002 chr5:81785323:G:C 1,.,. 2.62826e-05 0 4 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr5:82203829:A:G 1,.,. 2.62809e-05 0 4 -1 -1 -1 ATG10 50_intron 38,.,. 0.578947,.,. ATG10/intron/;ATG10/non_coding/ 0.0004 1.0552 1.7440 8 dominant HG002 HG002 chr5:82343121:G:GGTGT 1,.,. -1 -1 -1 -1 -1 -1 ATP6AP1L 53_non_coding 40,.,. 0.5,.,. ATP6AP1L/non_coding/ dominant HG002 HG002 chr5:82430343:T:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr5:82616573:AATGAATAAATAG:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr5:82616588:A:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr5:82740412:A:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. recessive HG002 HG002 chr5:82860490:TTA:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr5:82860493:G:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr5:83290271:A:G 1,.,. -1 -1 -1 -1 -1 -1 XRCC4 50_intron 44,.,. 0.386364,.,. XRCC4/intron/;XRCC4/non_coding/ 0.0000 0.7487 1.0320 5 Short stature, microcephaly, and endocrine dysfunction 0.000 dominant HG002 HG002 chr5:83462105:C:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr5:83613146:C:CCTTTA 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.604651,.,. dominant HG002 HG002 chr5:83613148:A:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.604651,.,. dominant HG002 HG002 chr5:83678217:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 HAPLN1 50_intron 24,.,. 0.75,.,. HAPLN1/intron/ 0.5024 0.3866 0.6400 2 dominant HG002 HG002 chr5:83678217:T:TTGTG 1,.,. -1 -1 -1 -1 -1 -1 HAPLN1 50_intron 20,.,. 0.7,.,. HAPLN1/intron/ 0.5024 0.3866 0.6400 2 dominant HG002 HG002 chr5:83996052:C:T 1,.,. 1.97288e-05 0 3 -1 -1 -1 EDIL3 50_intron 39,.,. 0.615385,.,. EDIL3/intron/ 0.0000 0.5357 0.7050 2 dominant HG002 HG002 chr5:84444395:C:T 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.508772,.,. dominant HG002 HG002 chr5:84601593:T:TATTTTA 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.244444,.,. dominant HG002 HG002 chr5:84749651:A:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.425532,.,. recessive HG002 HG002 chr5:84943799:T:TTTTTTTTTTTTTTTTTTTAATTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCAACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTAGAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAA 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr5:84943829:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr5:85314446:G:A 1,.,. 6.57246e-06 0 1 -1 -1 -1 38,.,. 0.394737,.,. dominant HG002 HG002 chr5:85323457:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.333333,.,. dominant HG002 HG002 chr5:85936070:T:C 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.586207,.,. dominant HG002 HG002 chr5:86128537:T:C 1,.,. 6.57168e-06 0 1 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr5:86749128:G:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr5:86835706:G:GAACAA 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr5:86835708:G:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr5:86835710:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr5:86936319:G:A 1,.,. 1.99142e-05 0 3 -1 -1 -1 52,.,. 0.557692,.,. dominant HG002 HG002 chr5:86967482:A:G 1,.,. 1.31463e-05 0 2 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr5:87019482:A:G 1,.,. 0.000106929 0 1 -1 -1 -1 40,.,. 0.475,.,. recessive HG002 HG002 chr5:88079558:TATATATGTGTAC:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr5:88192167:A:C 1,.,. 1.32577e-05 0 2 -1 -1 -1 TMEM161B 50_intron 33,.,. 0.575758,.,. TMEM161B/intron/ 0.0001 0.5657 0.7900 3 dominant HG002 HG002 chr5:89117235:GTACA:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr5:89117242:G:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr5:90207646:G:A 1,.,. 2.78691e-05 0 4 -1 -1 -1 LINC01339 53_non_coding 36,.,. 0.527778,.,. LINC01339/non_coding/ dominant HG002 HG002 chr5:90284227:A:G 1,.,. 2.62795e-05 0 4 -1 -1 -1 LINC01339 53_non_coding 32,.,. 0.53125,.,. LINC01339/non_coding/ dominant HG002 HG002 chr5:90442790:A:G 1,.,. 1.32696e-05 0 2 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr5:90471427:GTCAAT:G 1,.,. -1 -1 -1 -1 -1 -1 MBLAC2 50_intron 45,.,. 0.533333,.,. MBLAC2/intron/ 0.0000 1.0911 1.5330 8 dominant HG002 HG002 chr5:90471437:G:T 1,.,. -1 -1 -1 -1 -1 -1 MBLAC2 50_intron 43,.,. 0.55814,.,. MBLAC2/intron/ 0.0000 1.0911 1.5330 8 dominant HG002 HG002 chr5:90471439:T:G 1,.,. -1 -1 -1 -1 -1 -1 MBLAC2 50_intron 44,.,. 0.545455,.,. MBLAC2/intron/ 0.0000 1.0911 1.5330 8 dominant HG002 HG002 chr5:90499388:G:T 1,.,. 1.31401e-05 0 2 -1 -1 -1 POLR3G 50_intron 39,.,. 0.564103,.,. POLR3G/intron/ 0.0000 0.8158 1.1750 6 dominant HG002 HG002 chr5:90499827:T:G 1,.,. -1 -1 -1 -1 -1 -1 POLR3G 50_intron 37,.,. 0.405405,.,. POLR3G/intron/ 0.0000 0.8158 1.1750 6 dominant HG002 HG002 chr5:90499828:C:T 1,.,. -1 -1 -1 -1 -1 -1 POLR3G 50_intron 37,.,. 0.405405,.,. POLR3G/intron/ 0.0000 0.8158 1.1750 6 dominant HG002 HG002 chr5:90583076:G:A 1,.,. 1.3152e-05 0 2 -1 -1 -1 ADGRV1 50_intron 51,.,. 0.529412,.,. ADGRV1/intron/;ADGRV1/non_coding/ 0.0000 0.5706 0.6370 2 Febrile seizures, familial, 4;Usher syndrome type 2C 0.000 dominant HG002 HG002 chr5:90591113:T:C 1,.,. 2.62819e-05 0 4 -1 -1 -1 ADGRV1 50_intron 30,.,. 0.466667,.,. ADGRV1/intron/;ADGRV1/non_coding/ 0.0000 0.5706 0.6370 2 Febrile seizures, familial, 4;Usher syndrome type 2C 0.000 dominant HG002 HG002 chr5:90591114:G:T 1,.,. 2.62867e-05 0 4 -1 -1 -1 ADGRV1 50_intron 30,.,. 0.466667,.,. ADGRV1/intron/;ADGRV1/non_coding/ 0.0000 0.5706 0.6370 2 Febrile seizures, familial, 4;Usher syndrome type 2C 0.000 dominant HG002 HG002 chr5:90622820:AACC:A 1,.,. -1 -1 -1 -1 -1 -1 ADGRV1 50_intron 51,.,. 0.529412,.,. ADGRV1/non_coding/;ADGRV1/intron/ 0.0000 0.5706 0.6370 2 Febrile seizures, familial, 4;Usher syndrome type 2C 0.000 dominant HG002 HG002 chr5:90622824:T:C 1,.,. -1 -1 -1 -1 -1 -1 ADGRV1 50_intron 51,.,. 0.529412,.,. ADGRV1/non_coding/;ADGRV1/intron/ 0.0000 0.5706 0.6370 2 Febrile seizures, familial, 4;Usher syndrome type 2C 0.000 dominant HG002 HG002 chr5:90693227:C:T 1,.,. -1 -1 -1 -1 -1 -1 ADGRV1 50_intron 51,.,. 0.686275,.,. ADGRV1/intron/;ADGRV1/non_coding/ 0.0000 0.5706 0.6370 2 Febrile seizures, familial, 4;Usher syndrome type 2C 0.000 dominant HG002 HG002 chr5:90721526:A:AAATT 1,.,. -1 -1 -1 -1 -1 -1 ADGRV1 50_intron 36,.,. 0.472222,.,. ADGRV1/intron/;ADGRV1/non_coding/ 0.0000 0.5706 0.6370 2 Febrile seizures, familial, 4;Usher syndrome type 2C 0.000 recessive HG002 HG002 chr5:90813199:AATAG:A 2,.,. -1 -1 -1 -1 -1 -1 ADGRV1 50_intron 36,.,. 1,.,. ADGRV1/intron/;ADGRV1/non_coding/ 0.0000 0.5706 0.6370 2 Febrile seizures, familial, 4;Usher syndrome type 2C 0.000 recessive HG002 HG002 chr5:90813204:A:T 2,.,. 0.00169492 0 2 -1 -1 -1 ADGRV1 50_intron 36,.,. 1,.,. ADGRV1/intron/;ADGRV1/non_coding/ 0.0000 0.5706 0.6370 2 Febrile seizures, familial, 4;Usher syndrome type 2C 0.000 recessive HG002 HG002 chr5:90988928:ATGGTTTCCAGCTTCAT:A 2,.,. -1 -1 -1 -1 -1 -1 ADGRV1 50_intron 42,.,. 1,.,. ADGRV1/intron/;ADGRV1/non_coding/ 0.0000 0.5706 0.6370 2 Febrile seizures, familial, 4;Usher syndrome type 2C 0.000 recessive HG002 HG002 chr5:90988945:C:A 2,.,. -1 -1 -1 -1 -1 -1 ADGRV1 50_intron 42,.,. 1,.,. ADGRV1/intron/;ADGRV1/non_coding/ 0.0000 0.5706 0.6370 2 Febrile seizures, familial, 4;Usher syndrome type 2C 0.000 dominant HG002 HG002 chr5:91535286:CAT:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr5:91766742:C:T 1,.,. 1.97345e-05 0 3 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr5:91848149:G:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr5:92199047:G:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chr5:92268936:A:G 1,.,. 2.62857e-05 0 4 -1 -1 -1 28,.,. 0.607143,.,. dominant HG002 HG002 chr5:92344159:A:ACATATAACATATATATTACG 1,.,. -1 -1 -1 0.000700771 0 2 36,.,. 0.5,.,. dominant HG002 HG002 chr5:93696459:C:T 1,.,. 1.31482e-05 0 2 -1 -1 -1 FAM172A 50_intron 51,.,. 0.529412,.,. FAM172A/intron/ 0.0000 0.6787 0.9860 5 dominant HG002 HG002 chr5:93839623:T:C 1,.,. -1 -1 -1 -1 -1 -1 FAM172A 50_intron 32,.,. 0.4375,.,. FAM172A/intron/;FAM172A/non_coding/ 0.0000 0.6787 0.9860 5 dominant HG002 HG002 chr5:94861420:T:C 1,.,. -1 -1 -1 -1 -1 -1 MCTP1 50_intron 48,.,. 0.479167,.,. MCTP1/intron/ 0.0000 0.6736 0.8770 4 dominant HG002 HG002 chr5:94983661:GTCTGTCAA:G 1,.,. -1 -1 -1 -1 -1 -1 MCTP1 50_intron 45,.,. 0.4,.,. MCTP1/intron/;MCTP1/non_coding/ 0.0000 0.6736 0.8770 4 dominant HG002 HG002 chr5:95174050:A:G 1,.,. -1 -1 -1 -1 -1 -1 MCTP1 50_intron 48,.,. 0.458333,.,. MCTP1/intron/ 0.0000 0.6736 0.8770 4 dominant HG002 HG002 chr5:96064472:T:TCTG 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.604167,.,. dominant HG002 HG002 chr5:96064473:G:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.604167,.,. dominant HG002 HG002 chr5:96165949:T:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.596154,.,. dominant HG002 HG002 chr5:96165950:A:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.596154,.,. dominant HG002 HG002 chr5:96165954:T:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.591837,.,. dominant HG002 HG002 chr5:97089275:A:ATGGGCTAATACAGTGAGATTTCTCTGGTTGTGAGGTATGTGAT 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr5:97210377:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.675676,.,. dominant HG002 HG002 chr5:97550314:C:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr5:97562971:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.589744,.,. dominant HG002 HG002 chr5:97873605:TG:T 1,.,. 0.000229604 0 3 -1 -1 -1 50,.,. 0.54,.,. dominant HG002 HG002 chr5:97873608:C:A 1,.,. 0.000419933 0 3 -1 -1 -1 48,.,. 0.5625,.,. dominant HG002 HG002 chr5:97890928:TTAGTACA:T 1,.,. 1.97223e-05 0 3 -1 -1 -1 47,.,. 0.553191,.,. dominant HG002 HG002 chr5:97890936:C:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.574468,.,. dominant HG002 HG002 chr5:97890937:T:C 1,.,. 2.98823e-05 0 3 -1 -1 -1 47,.,. 0.574468,.,. dominant HG002 HG002 chr5:98091936:A:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr5:98091938:A:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr5:98091939:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr5:98091940:T:TTGCTCTATGTG 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr5:98136250:A:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.434783,.,. dominant HG002 HG002 chr5:99250912:T:C 1,.,. 2.6293e-05 0 4 -1 -1 -1 44,.,. 0.590909,.,. dominant HG002 HG002 chr5:99333572:G:T 1,.,. 2.62881e-05 0 4 -1 -1 -1 55,.,. 0.418182,.,. dominant HG002 HG002 chr5:99373727:C:CACAT 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.62,.,. dominant HG002 HG002 chr5:99468914:C:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.395833,.,. dominant HG002 HG002 chr5:99495371:A:T 1,.,. -1 -1 -1 -1 -1 -1 AC114324.2 53_non_coding 34,.,. 0.558824,.,. AC114324.2/non_coding/ dominant HG002 HG002 chr5:99525575:G:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr5:100098658:A:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr5:100594022:ATATC:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr5:100594028:A:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr5:100643154:TACATATAC:T 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.462963,.,. dominant HG002 HG002 chr5:100645920:AAAAAC:A 1,.,. 3.43784e-05 0 2 -1 -1 -1 50,.,. 0.4,.,. dominant HG002 HG002 chr5:101109221:A:ATG 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr5:101109227:T:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr5:101234787:TGTGCGTGTGTGTGC:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr5:101314493:G:GTA 1,.,. 8.09061e-05 0 2 -1 -1 -1 45,.,. 0.511111,.,. dominant HG002 HG002 chr5:101464261:T:TAAAAG 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.595745,.,. dominant HG002 HG002 chr5:101469477:G:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.377778,.,. dominant HG002 HG002 chr5:101573521:G:GTCCAT 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr5:101573524:T:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr5:101913102:G:GT 1,.,. -1 -1 -1 0.000700771 0 2 43,.,. 0.302326,.,. recessive HG002 HG002 chr5:102050790:A:T 2,.,. -1 -1 -1 0.000700771 0 2 37,.,. 1,.,. dominant HG002 HG002 chr5:102161269:ATTATGT:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr5:102190946:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr5:102304128:C:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. recessive HG002 HG002 chr5:102831071:GCCATAA:G 2,.,. -1 -1 -1 -1 -1 -1 PAM 50_intron 44,.,. 1,.,. PAM/intron/;PAM/non_coding/ 0.0006 0.5818 0.8630 3 recessive HG002 HG002 chr5:102831081:TGA:T 2,.,. -1 -1 -1 -1 -1 -1 PAM 50_intron 45,.,. 1,.,. PAM/intron/;PAM/non_coding/ 0.0006 0.5818 0.8630 3 recessive HG002 HG002 chr5:102831084:C:T 2,.,. -1 -1 -1 -1 -1 -1 PAM 50_intron 45,.,. 1,.,. PAM/intron/;PAM/non_coding/ 0.0006 0.5818 0.8630 3 dominant HG002 HG002 chr5:102941806:G:A 1,.,. -1 -1 -1 -1 -1 -1 PAM 50_intron 60,.,. 0.316667,.,. PAM/non_coding/;PAM/intron/ 0.0006 0.5818 0.8630 3 dominant HG002 HG002 chr5:103175095:C:T 1,.,. 1.31562e-05 0 2 -1 -1 -1 PPIP5K2 50_intron 49,.,. 0.44898,.,. PPIP5K2/intron/;PPIP5K2/non_coding/ 0.0000 0.7987 0.9730 4 Hearing loss, autosomal recessive 100 0.000 dominant HG002 HG002 chr5:103695181:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr5:103695184:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr5:104067202:ATTAAAAAGGAG:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr5:104067215:G:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr5:104110356:C:T 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.490566,.,. dominant HG002 HG002 chr5:104379509:GTGTATACATATA:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.531915,.,. dominant HG002 HG002 chr5:104379526:T:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr5:104447153:T:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr5:104481879:TTCAGTTAAA:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr5:104481889:T:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr5:104481891:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr5:104576093:TCCTC:T 1,.,. 9.29593e-06 0 1 -1 -1 -1 43,.,. 0.395349,.,. dominant HG002 HG002 chr5:104654827:A:G 1,.,. 6.57272e-06 0 1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr5:105241835:C:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr5:105736601:T:A 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.45098,.,. dominant HG002 HG002 chr5:105901345:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr5:106176305:C:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.46,.,. recessive HG002 HG002 chr5:106406974:A:T 2,.,. 0.00625 0 1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr5:106406976:TTAAAAGACTA:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr5:106406987:C:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr5:106657305:C:G 1,.,. -1 -1 -1 0.000700771 0 2 48,.,. 0.520833,.,. dominant HG002 HG002 chr5:107639080:G:A 1,.,. -1 -1 -1 -1 -1 -1 EFNA5 50_intron 45,.,. 0.444444,.,. EFNA5/intron/;EFNA5/non_coding/ 0.9772 0.1840 0.4760 1 recessive HG002 HG002 chr5:108163418:T:C 2,.,. -1 -1 -1 0.00140154 0 4 FBXL17 50_intron 7,.,. 1,.,. FBXL17/intron/;FBXL17/non_coding/ 0.0807 0.4463 0.6780 2 recessive HG002 HG002 chr5:108165333:G:GATCACC 2,.,. -1 -1 -1 -1 -1 -1 FBXL17 50_intron 41,.,. 1,.,. FBXL17/intron/;FBXL17/non_coding/ 0.0807 0.4463 0.6780 2 recessive HG002 HG002 chr5:108165334:T:A 2,.,. -1 -1 -1 -1 -1 -1 FBXL17 50_intron 42,.,. 1,.,. FBXL17/intron/;FBXL17/non_coding/ 0.0807 0.4463 0.6780 2 dominant HG002 HG002 chr5:108486172:AGAAAGGAAGGAAGGAG:A 1,.,. 1.43008e-05 0 1 -1 -1 -1 24,.,. 0.291667,.,. dominant HG002 HG002 chr5:108588984:C:CCA 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.509434,.,. dominant HG002 HG002 chr5:108588985:A:G 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.509434,.,. dominant HG002 HG002 chr5:108589307:A:G 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.518519,.,. dominant HG002 HG002 chr5:108589308:AGAGTT:A 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.518519,.,. dominant HG002 HG002 chr5:108641994:TCAGCCCTTATTTGA:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr5:108642009:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr5:108791304:A:C 1,.,. -1 -1 -1 -1 -1 -1 FER 50_intron 52,.,. 0.519231,.,. FER/non_coding/;FER/intron/ 0.0000 0.5622 0.7230 2 dominant HG002 HG002 chr5:108945604:T:C 1,.,. -1 -1 -1 -1 -1 -1 FER 50_intron 46,.,. 0.456522,.,. FER/intron/;FER/non_coding/ 0.0000 0.5622 0.7230 2 dominant HG002 HG002 chr5:109983985:A:G 1,.,. -1 -1 -1 0.00140154 0 4 57,.,. 0.491228,.,. dominant HG002 HG002 chr5:110032953:G:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. recessive HG002 HG002 chr5:110124240:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr5:110124241:TTTTTATG:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr5:110703273:CTTG:C 1,.,. -1 -1 -1 -1 -1 -1 TMEM232 50_intron 56,.,. 0.589286,.,. TMEM232/non_coding/;TMEM232/intron/ 0.0000 1.0575 1.3000 7 dominant HG002 HG002 chr5:110703277:C:G 1,.,. -1 -1 -1 -1 -1 -1 TMEM232 50_intron 57,.,. 0.578947,.,. TMEM232/non_coding/;TMEM232/intron/ 0.0000 1.0575 1.3000 7 dominant HG002 HG002 chr5:110839829:ACT:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.617021,.,. dominant HG002 HG002 chr5:110839832:C:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.617021,.,. recessive HG002 HG002 chr5:111321509:ATGTCAC:A 2,.,. -1 -1 -1 -1 -1 -1 CAMK4 50_intron 51,.,. 0.980392,.,. CAMK4/intron/;CAMK4/non_coding/ 0.0597 0.5565 1.0980 5 recessive HG002 HG002 chr5:111321517:G:A 2,.,. -1 -1 -1 -1 -1 -1 CAMK4 50_intron 50,.,. 1,.,. CAMK4/intron/;CAMK4/non_coding/ 0.0597 0.5565 1.0980 5 recessive HG002 HG002 chr5:111346846:A:C 2,.,. 0.000119804 0 14 0.00210231 0 6 CAMK4 50_intron 37,.,. 1,.,. CAMK4/intron/;CAMK4/non_coding/ 0.0597 0.5565 1.0980 5 recessive HG002 HG002 chr5:111451238:CTATAGG:C 2,.,. -1 -1 -1 -1 -1 -1 CAMK4 50_intron 43,.,. 1,.,. CAMK4/intron/;CAMK4/non_coding/ 0.0597 0.5565 1.0980 5 recessive HG002 HG002 chr5:111451245:G:A 2,.,. 0.000124397 0 5 -1 -1 -1 CAMK4 50_intron 43,.,. 1,.,. CAMK4/intron/;CAMK4/non_coding/ 0.0597 0.5565 1.0980 5 dominant HG002 HG002 chr5:111646145:C:T 1,.,. 2.62992e-05 0 4 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr5:111843823:T:A 1,.,. -1 -1 -1 -1 -1 -1 NREP 50_intron 44,.,. 0.363636,.,. NREP/intron/ 0.0206 0.9905 1.8290 9 dominant HG002 HG002 chr5:112029610:TTTTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.571429,.,. dominant HG002 HG002 chr5:112029617:T:C 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.615385,.,. recessive HG002 HG002 chr5:112165127:T:C 2,.,. 6.79459e-06 0 1 -1 -1 -1 EPB41L4A 50_intron 32,.,. 1,.,. EPB41L4A/non_coding/;EPB41L4A/intron/ 0.0000 1.0028 1.2610 7 dominant HG002 HG002 chr5:112353227:CTGTTGGCATGCTTGA:C 1,.,. -1 -1 -1 -1 -1 -1 EPB41L4A 50_intron 30,.,. 0.566667,.,. EPB41L4A/intron/;EPB41L4A/non_coding/ 0.0000 1.0028 1.2610 7 dominant HG002 HG002 chr5:112353244:C:A 1,.,. -1 -1 -1 -1 -1 -1 EPB41L4A 50_intron 30,.,. 0.566667,.,. EPB41L4A/intron/;EPB41L4A/non_coding/ 0.0000 1.0028 1.2610 7 dominant HG002 HG002 chr5:112436202:C:T 1,.,. 1.31416e-05 0 2 -1 -1 -1 29,.,. 0.62069,.,. dominant HG002 HG002 chr5:112565162:A:AACAT 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr5:112959362:C:T 1,.,. 2.63047e-05 0 4 -1 -1 -1 28,.,. 0.357143,.,. recessive HG002 HG002 chr5:113352688:A:G 2,.,. -1 -1 -1 -1 -1 -1 MCC 50_intron 42,.,. 1,.,. MCC/intron/ 0.0000 0.7653 0.9180 4 Colorectal cancer 0.000 dominant HG002 HG002 chr5:113534431:A:C 1,.,. 2.62867e-05 0 4 -1 -1 -1 YTHDC2 50_intron 43,.,. 0.348837,.,. YTHDC2/intron/ 1.0000 0.2485 0.3270 0 dominant HG002 HG002 chr5:114105381:C:CAT 1,.,. -1 -1 -1 -1 -1 -1 KCNN2 50_intron 53,.,. 0.528302,.,. KCNN2/non_coding/;KCNN2/intron/ 0.0672 0.4459 0.6610 2 Dystonia 34, myoclonic;Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0.000 dominant HG002 HG002 chr5:114105382:T:A 1,.,. -1 -1 -1 -1 -1 -1 KCNN2 50_intron 53,.,. 0.528302,.,. KCNN2/non_coding/;KCNN2/intron/ 0.0672 0.4459 0.6610 2 Dystonia 34, myoclonic;Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0.000 dominant HG002 HG002 chr5:114117885:C:T 1,.,. 2.62898e-05 0 4 -1 -1 -1 KCNN2 50_intron 50,.,. 0.46,.,. KCNN2/non_coding/;KCNN2/intron/ 0.0672 0.4459 0.6610 2 Dystonia 34, myoclonic;Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0.000 dominant HG002 HG002 chr5:114241377:A:G 1,.,. 1.97407e-05 0 3 -1 -1 -1 KCNN2 50_intron 46,.,. 0.478261,.,. KCNN2/intron/ 0.0672 0.4459 0.6610 2 Dystonia 34, myoclonic;Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0.000 dominant HG002 HG002 chr5:114365644:C:T 1,.,. -1 -1 -1 -1 -1 -1 KCNN2 50_intron 48,.,. 0.458333,.,. KCNN2/intron/;KCNN2/non_coding/ 0.0672 0.4459 0.6610 2 Dystonia 34, myoclonic;Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0.000 dominant HG002 HG002 chr5:114370218:C:T 1,.,. 2.62999e-05 0 4 -1 -1 -1 KCNN2 50_intron 39,.,. 0.487179,.,. KCNN2/intron/;KCNN2/non_coding/ 0.0672 0.4459 0.6610 2 Dystonia 34, myoclonic;Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0.000 dominant HG002 HG002 chr5:114528771:C:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr5:114544660:G:A 1,.,. 2.62767e-05 0 4 -1 -1 -1 41,.,. 0.439024,.,. recessive HG002 HG002 chr5:114550728:C:A 2,.,. -1 -1 -1 0.00210231 0 6 51,.,. 1,.,. dominant HG002 HG002 chr5:114606527:G:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr5:114961593:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr5:114961594:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr5:114961595:A:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr5:114961596:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr5:115163586:T:C 1,.,. 1.31427e-05 0 2 -1 -1 -1 TRIM36 14_missense 39,.,. 0.666667,.,. TRIM36/missense/ENST00000282369;TRIM36/missense/ENST00000513154;TRIM36/missense/ENST00000508894 0.0000 0.5653 0.7470 3 Anencephaly 1 0.000 dominant HG002 HG002 chr5:115166593:T:C 1,.,. 1.97094e-05 0 3 -1 -1 -1 TRIM36 50_intron 37,.,. 0.297297,.,. TRIM36/intron/;TRIM36/non_coding/ 0.0000 0.5653 0.7470 3 Anencephaly 1 0.000 recessive HG002 HG002 chr5:115186381:C:CAGG 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr5:115259628:G:A 1,.,. 2.0579e-05 0 3 -1 -1 -1 PGGT1B 50_intron 54,.,. 0.648148,.,. PGGT1B/intron/;PGGT1B/non_coding/ 0.0009 0.8104 1.3720 7 dominant HG002 HG002 chr5:115340174:A:G 1,.,. 1.3142e-05 0 2 -1 -1 -1 35,.,. 0.257143,.,. dominant HG002 HG002 chr5:115401952:C:G 1,.,. -1 -1 -1 0.000700771 0 2 31,.,. 0.548387,.,. dominant HG002 HG002 chr5:115452449:C:T 1,.,. 1.97109e-05 0 3 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr5:115575230:C:A 1,.,. 1.98355e-05 0 3 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr5:115610188:G:A 1,.,. 2.63394e-05 0 4 -1 -1 -1 TMED7-TICAM2 50_intron 46,.,. 0.543478,.,. TMED7-TICAM2/intron/;TMED7-TICAM2/non_coding/ 0.0112 0.5120 0.7880 3 dominant HG002 HG002 chr5:115626990:GTGTGTATA:G 1,.,. -1 -1 -1 0.000700771 0 2 TMED7 50_intron 32,.,. 0.53125,.,. TMED7/intron/ 0.5672 0.3702 0.6680 2 dominant HG002 HG002 chr5:115699559:T:C 1,.,. 2.27307e-05 0 3 -1 -1 -1 41,.,. 0.365854,.,. dominant HG002 HG002 chr5:116035875:G:T 1,.,. -1 -1 -1 -1 -1 -1 ARL14EPL 50_intron 47,.,. 0.489362,.,. ARL14EPL/intron/ 0.0000 0.9109 1.4020 7 recessive HG002 HG002 chr5:116036413:A:AAC 2,.,. -1 -1 -1 -1 -1 -1 ARL14EPL 50_intron 43,.,. 1,.,. ARL14EPL/intron/ 0.0000 0.9109 1.4020 7 recessive HG002 HG002 chr5:116036414:C:A 2,.,. -1 -1 -1 -1 -1 -1 ARL14EPL 50_intron 45,.,. 1,.,. ARL14EPL/intron/ 0.0000 0.9109 1.4020 7 dominant HG002 HG002 chr5:116051599:G:A 1,.,. 2.75402e-05 0 4 -1 -1 -1 ARL14EPL 50_intron 56,.,. 0.464286,.,. ARL14EPL/intron/ 0.0000 0.9109 1.4020 7 dominant HG002 HG002 chr5:116173839:TTTTG:T 1,.,. 2.21995e-05 0 2 -1 -1 -1 COMMD10 50_intron 56,.,. 0.339286,.,. COMMD10/intron/ 0.0039 1.0487 1.8100 9 dominant HG002 HG002 chr5:116202028:C:T 1,.,. 2.04443e-05 0 3 -1 -1 -1 COMMD10 50_intron 45,.,. 0.4,.,. COMMD10/intron/ 0.0039 1.0487 1.8100 9 dominant HG002 HG002 chr5:116208698:CG:C 1,.,. -1 -1 -1 -1 -1 -1 COMMD10 50_intron 42,.,. 0.547619,.,. COMMD10/intron/ 0.0039 1.0487 1.8100 9 dominant HG002 HG002 chr5:116222616:C:G 1,.,. -1 -1 -1 -1 -1 -1 COMMD10 50_intron 44,.,. 0.522727,.,. COMMD10/intron/ 0.0039 1.0487 1.8100 9 dominant HG002 HG002 chr5:116301389:C:T 1,.,. 1.97324e-05 0 3 -1 -1 -1 COMMD10 53_non_coding 48,.,. 0.479167,.,. COMMD10/non_coding/ 0.0039 1.0487 1.8100 9 dominant HG002 HG002 chr5:116333491:CAAAAAAAAAAAAAAA:C 1,.,. 6.3118e-05 0 3 -1 -1 -1 COMMD10 53_non_coding 27,.,. 0.555556,.,. COMMD10/non_coding/ 0.0039 1.0487 1.8100 9 dominant HG002 HG002 chr5:116377470:C:T 1,.,. -1 -1 -1 -1 -1 -1 COMMD10 53_non_coding 45,.,. 0.355556,.,. COMMD10/non_coding/ 0.0039 1.0487 1.8100 9 dominant HG002 HG002 chr5:116380339:T:A 1,.,. -1 -1 -1 -1 -1 -1 COMMD10 53_non_coding 46,.,. 0.586957,.,. COMMD10/non_coding/ 0.0039 1.0487 1.8100 9 dominant HG002 HG002 chr5:116380341:A:T 1,.,. -1 -1 -1 -1 -1 -1 COMMD10 53_non_coding 46,.,. 0.586957,.,. COMMD10/non_coding/ 0.0039 1.0487 1.8100 9 dominant HG002 HG002 chr5:116380342:T:G 1,.,. -1 -1 -1 -1 -1 -1 COMMD10 53_non_coding 47,.,. 0.574468,.,. COMMD10/non_coding/ 0.0039 1.0487 1.8100 9 dominant HG002 HG002 chr5:117223233:G:T 1,.,. -1 -1 -1 0.000700771 0 2 45,.,. 0.466667,.,. dominant HG002 HG002 chr5:117373635:G:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.367347,.,. dominant HG002 HG002 chr5:117541818:CATACATCTA:C 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.396226,.,. dominant HG002 HG002 chr5:117542717:G:GCATA 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr5:117591664:A:C 1,.,. -1 -1 -1 0.00140154 0 4 36,.,. 0.444444,.,. dominant HG002 HG002 chr5:118532526:AAGG:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr5:118543242:T:A 1,.,. -1 -1 -1 0.00105116 0 3 39,.,. 0.384615,.,. dominant HG002 HG002 chr5:118543243:A:T 1,.,. -1 -1 -1 0.00105116 0 3 39,.,. 0.384615,.,. dominant HG002 HG002 chr5:119041472:A:G 1,.,. 1.97649e-05 0 3 -1 -1 -1 DMXL1 53_non_coding 34,.,. 0.382353,.,. DMXL1/non_coding/ 1.0000 0.2954 0.3590 0 dominant HG002 HG002 chr5:119099995:C:T 1,.,. 1.3155e-05 0 2 -1 -1 -1 DMXL1 50_intron 30,.,. 0.366667,.,. DMXL1/non_coding/;DMXL1/intron/ 1.0000 0.2954 0.3590 0 dominant HG002 HG002 chr5:119627012:A:G 1,.,. 6.57108e-06 0 1 -1 -1 -1 HSD17B4 53_non_coding 40,.,. 0.4,.,. HSD17B4/non_coding/ 0.0061 0.5464 0.8540 3 Perrault syndrome 1;Bifunctional peroxisomal enzyme deficiency 0.000 dominant HG002 HG002 chr5:119706387:A:AT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.394737,.,. dominant HG002 HG002 chr5:119894971:G:GGTGT 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.619048,.,. recessive HG002 HG002 chr5:120046985:T:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr5:120086042:T:C 1,.,. 0.000263992 0 4 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr5:121457561:A:AAAAAG 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. recessive HG002 HG002 chr5:122300300:G:T 2,.,. -1 -1 -1 0.0189208 0 54 50,.,. 1,.,. dominant HG002 HG002 chr5:122448661:TTATA:T 1,.,. 9.01388e-06 0 1 -1 -1 -1 SNCAIP 50_intron 41,.,. 0.512195,.,. SNCAIP/intron/;SNCAIP/non_coding/ 0.0005 0.4815 0.6360 2 Parkinson disease, late-onset 0.000 dominant HG002 HG002 chr5:122448666:T:A 1,.,. -1 -1 -1 -1 -1 -1 SNCAIP 50_intron 41,.,. 0.512195,.,. SNCAIP/intron/;SNCAIP/non_coding/ 0.0005 0.4815 0.6360 2 Parkinson disease, late-onset 0.000 dominant HG002 HG002 chr5:122689739:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr5:123068509:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. recessive HG002 HG002 chr5:123125146:CCCCCT:C 2,.,. 0.00770308 0 11 -1 -1 -1 PRDM6 50_intron 30,.,. 1,.,. PRDM6/intron/;PRDM6/non_coding/ 0.0107 0.4648 0.6490 2 Patent ductus arteriosus 3 0.000 recessive HG002 HG002 chr5:123125159:A:C 2,.,. -1 -1 -1 0.00420463 0 12 PRDM6 50_intron 34,.,. 1,.,. PRDM6/intron/;PRDM6/non_coding/ 0.0107 0.4648 0.6490 2 Patent ductus arteriosus 3 0.000 dominant HG002 HG002 chr5:123416594:T:TA 1,.,. -1 -1 -1 -1 -1 -1 CEP120 50_intron 28,.,. 0.392857,.,. CEP120/intron/;CEP120/non_coding/ 0.0000 0.7624 0.9300 4 Short-rib thoracic dysplasia 13 with or without polydactyly;Joubert syndrome 31 0.000 dominant HG002 HG002 chr5:123751184:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr5:123775551:C:CATCT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr5:123860022:T:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr5:124212698:C:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr5:124212700:T:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr5:124212701:T:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr5:124212702:A:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr5:124212714:G:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr5:124567130:T:C 1,.,. 1.31423e-05 0 2 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr5:124639261:G:C 1,.,. 6.5684e-06 0 1 -1 -1 -1 ZNF608 50_intron 42,.,. 0.428571,.,. ZNF608/non_coding/;ZNF608/intron/ 1.0000 0.0974 0.1610 0 dominant HG002 HG002 chr5:124913405:C:CTGTA 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr5:124913406:G:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr5:124992505:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr5:125237870:A:G 1,.,. 1.31425e-05 0 2 -1 -1 -1 40,.,. 0.675,.,. dominant HG002 HG002 chr5:125326996:G:C 1,.,. 1.35477e-05 0 2 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr5:125498738:C:CT 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr5:125676488:T:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.404762,.,. dominant HG002 HG002 chr5:125690215:TGTGTAC:T 1,.,. 5.09165e-05 0 2 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr5:125690223:T:C 1,.,. 2.6313e-05 0 1 -1 -1 -1 50,.,. 0.44,.,. dominant HG002 HG002 chr5:125755600:T:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.609756,.,. dominant HG002 HG002 chr5:125755601:T:TAC 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.581395,.,. recessive HG002 HG002 chr5:126241037:G:T 2,.,. 6.57022e-06 0 1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr5:126888939:A:G 1,.,. -1 -1 -1 -1 -1 -1 MARCHF3 50_intron 48,.,. 0.541667,.,. MARCHF3/intron/ 0.0175 0.5139 0.8170 3 recessive HG002 HG002 chr5:127173239:T:G 2,.,. 3.3088e-05 0 5 -1 -1 -1 51,.,. 0.980392,.,. dominant HG002 HG002 chr5:127760970:A:C 1,.,. 6.57212e-06 0 1 -1 -1 -1 CCDC192 50_intron 58,.,. 0.465517,.,. CCDC192/intron/ dominant HG002 HG002 chr5:128001214:CACATATATATATATATATATAT:C 1,.,. 6.95797e-05 0 1 0.00140154 0 4 48,.,. 0.479167,.,. dominant HG002 HG002 chr5:128560040:A:G 1,.,. -1 -1 -1 -1 -1 -1 FBN2 50_intron 38,.,. 0.657895,.,. FBN2/intron/ 1.0000 0.2603 0.3120 0 Macular degeneration, early-onset;Congenital contractural arachnodactyly 0.000 dominant HG002 HG002 chr5:128669575:G:A 1,.,. 8.78905e-06 0 1 -1 -1 -1 SLC27A6 50_intron 39,.,. 0.358974,.,. SLC27A6/intron/ 0.0000 1.0894 1.3890 7 dominant HG002 HG002 chr5:128669576:A:T 1,.,. -1 -1 -1 -1 -1 -1 SLC27A6 50_intron 39,.,. 0.358974,.,. SLC27A6/intron/ 0.0000 1.0894 1.3890 7 dominant HG002 HG002 chr5:128669577:T:C 1,.,. -1 -1 -1 -1 -1 -1 SLC27A6 50_intron 39,.,. 0.358974,.,. SLC27A6/intron/ 0.0000 1.0894 1.3890 7 dominant HG002 HG002 chr5:128916689:T:C 1,.,. 1.31401e-05 0 2 -1 -1 -1 SLC27A6 50_intron 48,.,. 0.5625,.,. SLC27A6/intron/ 0.0000 1.0894 1.3890 7 dominant HG002 HG002 chr5:128933796:C:A 1,.,. -1 -1 -1 -1 -1 -1 SLC27A6 50_intron 54,.,. 0.425926,.,. SLC27A6/intron/ 0.0000 1.0894 1.3890 7 dominant HG002 HG002 chr5:128936995:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 SLC27A6 50_intron 63,.,. 0.365079,.,. SLC27A6/intron/ 0.0000 1.0894 1.3890 7 recessive HG002 HG002 chr5:129570635:AAG:A 2,.,. -1 -1 -1 0.00315347 0 9 ADAMTS19 50_intron 36,.,. 1,.,. ADAMTS19/intron/ 0.0000 0.6876 0.8300 3 Cardiac valvular dysplasia 2 0.000 recessive HG002 HG002 chr5:129570644:C:A 2,.,. 0.00125603 0 37 -1 -1 -1 ADAMTS19 50_intron 39,.,. 1,.,. ADAMTS19/intron/ 0.0000 0.6876 0.8300 3 Cardiac valvular dysplasia 2 0.000 dominant HG002 HG002 chr5:129883345:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr5:130752830:T:TGTGTGA 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.333333,.,. dominant HG002 HG002 chr5:130896902:A:C 1,.,. 6.59057e-06 0 1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr5:131098510:CAGTT:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr5:131098515:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr5:131098518:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr5:131098520:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr5:131098521:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr5:131438116:G:GGCAT 1,.,. -1 -1 -1 -1 -1 -1 RAPGEF6 50_intron 41,.,. 0.536585,.,. RAPGEF6/intron/;RAPGEF6/non_coding/ 1.0000 0.3243 0.4100 1 dominant HG002 HG002 chr5:131438117:T:G 1,.,. -1 -1 -1 -1 -1 -1 RAPGEF6 50_intron 41,.,. 0.536585,.,. RAPGEF6/intron/;RAPGEF6/non_coding/ 1.0000 0.3243 0.4100 1 dominant HG002 HG002 chr5:131661218:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 AC008695.1 50_intron 57,.,. 0.421053,.,. AC008695.1/intron/ dominant HG002 HG002 chr5:131860727:G:A 1,.,. -1 -1 -1 0.000700771 0 2 MEIKIN;AC034228.3 50_intron 42,.,. 0.547619,.,. MEIKIN/intron/;AC034228.3/intron/ recessive HG002 HG002 chr5:132175840:T:A 2,.,. 0.000121317 0 7 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr5:132257673:T:G 2,.,. 0.000415973 0 10 -1 -1 -1 P4HA2 50_intron 23,.,. 1,.,. P4HA2/intron/;P4HA2/non_coding/ 0.0000 0.6167 0.8410 3 Myopia 25, autosomal dominant 0.000 recessive HG002 HG002 chr5:133143934:AAAGCTGGC:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr5:133143943:A:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr5:133143944:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr5:133180306:G:A 1,.,. 6.58666e-06 0 1 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr5:133221905:T:G 1,.,. -1 -1 -1 -1 -1 -1 FSTL4 50_intron 43,.,. 0.325581,.,. FSTL4/intron/;FSTL4/non_coding/ 0.9993 0.2942 0.4410 1 dominant HG002 HG002 chr5:133316857:GCTA:G 1,.,. -1 -1 -1 -1 -1 -1 FSTL4 50_intron 27,.,. 0.555556,.,. FSTL4/intron/;FSTL4/non_coding/ 0.9993 0.2942 0.4410 1 dominant HG002 HG002 chr5:133316862:A:C 1,.,. -1 -1 -1 -1 -1 -1 FSTL4 50_intron 27,.,. 0.555556,.,. FSTL4/intron/;FSTL4/non_coding/ 0.9993 0.2942 0.4410 1 dominant HG002 HG002 chr5:133586194:T:C 1,.,. -1 -1 -1 -1 -1 -1 FSTL4 50_intron 33,.,. 0.363636,.,. FSTL4/intron/ 0.9993 0.2942 0.4410 1 dominant HG002 HG002 chr5:134048727:C:G 1,.,. 1.3146e-05 0 2 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr5:134063519:G:A 1,.,. 6.57073e-06 0 1 -1 -1 -1 49,.,. 0.510204,.,. dominant HG002 HG002 chr5:134169154:C:A 1,.,. 2.62857e-05 0 4 -1 -1 -1 SKP1 50_intron 43,.,. 0.534884,.,. SKP1/intron/ 0.9802 0.0000 0.3240 0 dominant HG002 HG002 chr5:134189142:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 AC104109.3 50_intron 28,.,. 0.428571,.,. AC104109.3/intron/ dominant HG002 HG002 chr5:134835203:TAAAAA:T 1,.,. 6.63165e-06 0 1 -1 -1 -1 DDX46 50_intron 37,.,. 0.648649,.,. DDX46/intron/ 1.0000 0.2117 0.2920 0 recessive HG002 HG002 chr5:135336644:A:G 2,.,. -1 -1 -1 -1 -1 -1 MACROH2A1 50_intron 36,.,. 1,.,. MACROH2A1/intron/;MACROH2A1/non_coding/ 0.9999 0.0000 0.1540 0 0.000 dominant HG002 HG002 chr5:135365788:A:G 1,.,. 6.57134e-06 0 1 -1 -1 -1 MACROH2A1 50_intron 42,.,. 0.47619,.,. MACROH2A1/intron/;MACROH2A1/non_coding/ 0.9999 0.0000 0.1540 0 0.000 dominant HG002 HG002 chr5:135488999:C:G 1,.,. 1.31994e-05 0 2 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr5:135690403:G:A 1,.,. 6.57384e-06 0 1 -1 -1 -1 SLC25A48 50_intron 35,.,. 0.457143,.,. SLC25A48/intron/;SLC25A48/non_coding/ 0.0000 0.8848 1.2060 6 dominant HG002 HG002 chr5:135697291:G:GCTGCCC 1,.,. -1 -1 -1 -1 -1 -1 SLC25A48 50_intron 20,.,. 0.45,.,. SLC25A48/intron/;SLC25A48/non_coding/ 0.0000 0.8848 1.2060 6 dominant HG002 HG002 chr5:135697294:A:C 1,.,. -1 -1 -1 -1 -1 -1 SLC25A48 50_intron 20,.,. 0.45,.,. SLC25A48/intron/;SLC25A48/non_coding/ 0.0000 0.8848 1.2060 6 dominant HG002 HG002 chr5:135713744:C:T 1,.,. 1.31437e-05 0 2 -1 -1 -1 SLC25A48 50_intron 43,.,. 0.348837,.,. SLC25A48/intron/;SLC25A48/non_coding/ 0.0000 0.8848 1.2060 6 dominant HG002 HG002 chr5:135723390:A:T 1,.,. 2.50733e-05 0 2 -1 -1 -1 SLC25A48 50_intron 42,.,. 0.333333,.,. SLC25A48/intron/;SLC25A48/non_coding/ 0.0000 0.8848 1.2060 6 dominant HG002 HG002 chr5:135723392:A:T 1,.,. 1.24844e-05 0 1 -1 -1 -1 SLC25A48 50_intron 44,.,. 0.363636,.,. SLC25A48/intron/;SLC25A48/non_coding/ 0.0000 0.8848 1.2060 6 dominant HG002 HG002 chr5:135853063:G:A 1,.,. 1.31447e-05 0 2 -1 -1 -1 SLC25A48 50_intron 24,.,. 0.541667,.,. SLC25A48/intron/ 0.0000 0.8848 1.2060 6 dominant HG002 HG002 chr5:136012423:G:A 1,.,. 6.57177e-06 0 1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr5:136187188:A:AATAAT 1,.,. -1 -1 -1 -1 -1 -1 SMAD5 36_3_prime_utr 41,.,. 0.439024,.,. SMAD5/3_prime_utr&NMD_transcript/ENST00000513418 1.0000 0.0366 0.1740 0 dominant HG002 HG002 chr5:136187190:G:T 1,.,. -1 -1 -1 -1 -1 -1 SMAD5 36_3_prime_utr 41,.,. 0.439024,.,. SMAD5/3_prime_utr&NMD_transcript/ENST00000513418 1.0000 0.0366 0.1740 0 dominant HG002 HG002 chr5:136187191:T:A 1,.,. -1 -1 -1 -1 -1 -1 SMAD5 36_3_prime_utr 41,.,. 0.439024,.,. SMAD5/3_prime_utr&NMD_transcript/ENST00000513418 1.0000 0.0366 0.1740 0 dominant HG002 HG002 chr5:136299334:TGTGTGC:T 1,.,. 2.30478e-05 0 2 -1 -1 -1 TRPC7 50_intron 35,.,. 0.514286,.,. TRPC7/intron/ 0.0012 0.4609 0.5960 2 dominant HG002 HG002 chr5:136356470:C:T 1,.,. 6.56978e-06 0 1 -1 -1 -1 TRPC7 50_intron 41,.,. 0.487805,.,. TRPC7/intron/ 0.0012 0.4609 0.5960 2 dominant HG002 HG002 chr5:136410967:A:T 1,.,. 1.3201e-05 0 2 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr5:136777403:A:G 1,.,. 6.56875e-06 0 1 -1 -1 -1 50,.,. 0.5,.,. dominant HG002 HG002 chr5:136969066:C:G 1,.,. 6.5754e-06 0 1 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr5:137047484:T:C 1,.,. -1 -1 -1 0.00140154 0 4 SPOCK1 50_intron 43,.,. 0.465116,.,. SPOCK1/intron/;SPOCK1/non_coding/ 0.3836 0.4032 0.5860 2 dominant HG002 HG002 chr5:137278783:G:A 1,.,. 6.57358e-06 0 1 -1 -1 -1 SPOCK1 50_intron 37,.,. 0.540541,.,. SPOCK1/intron/;SPOCK1/non_coding/ 0.3836 0.4032 0.5860 2 dominant HG002 HG002 chr5:137518516:AAGGAAGGAAGGAAGGAAGGAAGGAGGGAAG:A 1,.,. -1 -1 -1 -1 -1 -1 SPOCK1 53_non_coding 34,.,. 0.352941,.,. SPOCK1/non_coding/ 0.3836 0.4032 0.5860 2 dominant HG002 HG002 chr5:137918969:AGTGT:A 1,.,. 3.03757e-05 0 4 -1 -1 -1 PKD2L2 50_intron 31,.,. 0.516129,.,. PKD2L2/intron/ 0.0022 0.6708 1.1100 6 dominant HG002 HG002 chr5:138195582:TTATATATA:T 1,.,. 6.87829e-05 0 4 -1 -1 -1 CDC23 50_intron 25,.,. 0.4,.,. CDC23/intron/;CDC23/non_coding/ 0.9992 0.3239 0.4520 1 dominant HG002 HG002 chr5:138426874:AAAAAAAG:A 1,.,. 1.20653e-05 0 1 -1 -1 -1 KDM3B 50_intron 27,.,. 0.555556,.,. KDM3B/intron/;KDM3B/non_coding/ 1.0000 0.0690 0.1170 0 Diets-Jongmans syndrome 0.000 recessive HG002 HG002 chr5:138454797:G:GTTGTCCAGGT 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr5:138454799:C:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chr5:138777888:A:AGAGGAGGGAGAGGGG 1,.,. 3.23415e-05 0 1 -1 -1 -1 CTNNA1 50_intron 22,.,. 0.272727,.,. CTNNA1/intron/ 0.9725 0.3691 0.4910 1 Patterned macular dystrophy 2 0.000 dominant HG002 HG002 chr5:139026575:G:T 1,.,. 6.5754e-06 0 1 -1 -1 -1 SIL1 50_intron 39,.,. 0.461538,.,. SIL1/intron/;SIL1/non_coding/ 0.0000 0.7856 1.0230 5 Marinesco-Sjögren syndrome 0.000 dominant HG002 HG002 chr5:139761945:G:A 1,.,. 6.56978e-06 0 1 -1 -1 -1 22,.,. 0.363636,.,. dominant HG002 HG002 chr5:139937138:C:T 1,.,. 6.57168e-06 0 1 -1 -1 -1 NRG2 50_intron 30,.,. 0.4,.,. NRG2/intron/ 0.1416 0.4209 0.5800 1 dominant HG002 HG002 chr5:139944907:A:G 1,.,. 6.57739e-06 0 1 -1 -1 -1 NRG2 50_intron 40,.,. 0.45,.,. NRG2/intron/ 0.1416 0.4209 0.5800 1 dominant HG002 HG002 chr5:140024479:T:C 1,.,. 6.57402e-06 0 1 -1 -1 -1 NRG2 50_intron 32,.,. 0.4375,.,. NRG2/intron/ 0.1416 0.4209 0.5800 1 recessive HG002 HG002 chr5:140552043:A:AGTC 2,.,. -1 -1 -1 -1 -1 -1 SRA1 12_inframe_insertion 34,.,. 1,.,. SRA1/inframe_insertion/ENST00000336283 0.0000 1.0881 1.5180 8 Hypogonadotropic hypogonadism 7 with or without anosmia 0.000 recessive HG002 HG002 chr5:140552044:C:G 2,.,. 1.31928e-05 0 2 -1 -1 -1 SRA1 14_missense 34,.,. 1,.,. SRA1/missense/ENST00000336283 0.0000 1.0881 1.5180 8 Hypogonadotropic hypogonadism 7 with or without anosmia 0.000 dominant HG002 HG002 chr5:140831488:T:TAGCTGG 1,.,. -1 -1 -1 -1 -1 -1 PCDHA1 50_intron 46,.,. 0.434783,.,. PCDHA1/intron/ 0.0000 0.6562 0.8490 3 dominant HG002 HG002 chr5:140839395:G:T 1,.,. -1 -1 -1 -1 -1 -1 PCDHA1 50_intron 49,.,. 0.530612,.,. PCDHA1/intron/ 0.0000 0.6562 0.8490 3 dominant HG002 HG002 chr5:140941226:T:C 1,.,. -1 -1 -1 -1 -1 -1 PCDHA1;PCDHA12 50_intron 38,.,. 0.394737,.,. PCDHA1/intron/;PCDHA12/intron/ 0.0000;;0.0000 0.6562;;0.7219 0.8490;;0.9280 3;;4 dominant HG002 HG002 chr5:141221560:G:GCTGTCTCTCT 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr5:141351402:A:G 1,.,. -1 -1 -1 -1 -1 -1 PCDHGB1 14_missense 28,.,. 0.5,.,. PCDHGB1/missense/ENST00000611598;PCDHGB1/missense/ENST00000523390 0.0000 0.5821 0.7750 3 dominant HG002 HG002 chr5:141357899:C:T 1,.,. -1 -1 -1 -1 -1 -1 PCDHGA1;PCDHGA3 50_intron 35,.,. 0.628571,.,. PCDHGA1/intron/;PCDHGA3/intron/ 0.0001;;0.0000 0.5272;;0.6508 0.7080;;0.8470 2;;3 dominant HG002 HG002 chr5:141395556:G:T 1,.,. -1 -1 -1 -1 -1 -1 PCDHGA8 36_3_prime_utr 33,.,. 0.454545,.,. PCDHGA8/3_prime_utr/ENST00000610569 0.0000 0.7020 0.9030 4 dominant HG002 HG002 chr5:141409541:G:C 1,.,. 1.31392e-05 0 2 -1 -1 -1 PCDHGB6 14_missense 34,.,. 0.676471,.,. PCDHGB6/missense/ENST00000616430;PCDHGB6/missense/ENST00000520790 0.0000 0.8090 1.0220 5 dominant HG002 HG002 chr5:141798422:C:T 1,.,. 1.31631e-05 0 2 -1 -1 -1 23,.,. 0.304348,.,. recessive HG002 HG002 chr5:141829438:A:AAAGG 2,.,. 0.000141004 0 2 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr5:141833678:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr5:141837668:A:G 2,.,. 0.000204886 0 31 0.000700771 0 2 20,.,. 1,.,. dominant HG002 HG002 chr5:141967651:G:T 1,.,. -1 -1 -1 -1 -1 -1 PCDH12;RNF14 50_intron 39,.,. 0.538462,.,. PCDH12/non_coding/;RNF14/intron/ 0.0000;;0.0120 0.5865;;0.4629 0.7520;;0.6460 3;;2 Diencephalic-mesencephalic junction dysplasia syndrome 1 0.000 dominant HG002 HG002 chr5:141979229:G:T 1,.,. -1 -1 -1 -1 -1 -1 RNF14 50_intron 45,.,. 0.444444,.,. RNF14/intron/;RNF14/non_coding/ 0.0120 0.4629 0.6460 2 dominant HG002 HG002 chr5:142416445:TATAATATATATTTTATATAAAATATAATTTTATATAATATA:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. recessive HG002 HG002 chr5:142666120:AAG:A 2,.,. -1 -1 -1 -1 -1 -1 FGF1 50_intron 33,.,. 1,.,. FGF1/intron/;FGF1/non_coding/ 0.1344 0.4954 1.0410 5 recessive HG002 HG002 chr5:142666123:T:G 2,.,. -1 -1 -1 -1 -1 -1 FGF1 50_intron 33,.,. 1,.,. FGF1/intron/;FGF1/non_coding/ 0.1344 0.4954 1.0410 5 recessive HG002 HG002 chr5:142666208:T:C 2,.,. -1 -1 -1 -1 -1 -1 FGF1 50_intron 31,.,. 1,.,. FGF1/intron/;FGF1/non_coding/ 0.1344 0.4954 1.0410 5 recessive HG002 HG002 chr5:142666209:C:T 2,.,. -1 -1 -1 -1 -1 -1 FGF1 50_intron 32,.,. 1,.,. FGF1/intron/;FGF1/non_coding/ 0.1344 0.4954 1.0410 5 dominant HG002 HG002 chr5:142964547:C:A 1,.,. -1 -1 -1 -1 -1 -1 ARHGAP26 50_intron 42,.,. 0.285714,.,. ARHGAP26/intron/;ARHGAP26/non_coding/ 0.9751 0.3637 0.4930 1 0.000 dominant HG002 HG002 chr5:143105499:A:G 1,.,. 1.31366e-05 0 2 -1 -1 -1 ARHGAP26 50_intron 51,.,. 0.431373,.,. ARHGAP26/intron/ 0.9751 0.3637 0.4930 1 0.000 dominant HG002 HG002 chr5:143354277:T:C 1,.,. 2.62581e-05 0 4 -1 -1 -1 NR3C1 50_intron 49,.,. 0.44898,.,. NR3C1/intron/;NR3C1/non_coding/ 1.0000 0.1849 0.2940 0 Glucocorticoid resistance 0.000 dominant HG002 HG002 chr5:143454719:G:A 1,.,. 2.62646e-05 0 4 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr5:143514880:A:T 1,.,. 1.96925e-05 0 3 -1 -1 -1 45,.,. 0.577778,.,. dominant HG002 HG002 chr5:144352370:G:C 1,.,. 2.63002e-05 0 4 -1 -1 -1 KCTD16 50_intron 31,.,. 0.322581,.,. KCTD16/intron/ 0.9431 0.3165 0.5370 1 dominant HG002 HG002 chr5:144468424:G:T 1,.,. -1 -1 -1 -1 -1 -1 KCTD16 50_intron 36,.,. 0.305556,.,. KCTD16/intron/ 0.9431 0.3165 0.5370 1 dominant HG002 HG002 chr5:144501167:T:C 1,.,. 2.62902e-05 0 4 -1 -1 -1 45,.,. 0.577778,.,. recessive HG002 HG002 chr5:144648234:TTA:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr5:144648238:G:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr5:144831598:G:A 1,.,. 1.97267e-05 0 3 -1 -1 -1 44,.,. 0.590909,.,. dominant HG002 HG002 chr5:145060077:C:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.538462,.,. dominant HG002 HG002 chr5:145060078:T:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.538462,.,. dominant HG002 HG002 chr5:145060079:A:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.538462,.,. dominant HG002 HG002 chr5:145074319:A:AAAAAAT 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr5:145074326:A:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr5:145394252:T:TA 1,.,. 2.63113e-05 0 4 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr5:145726242:A:AGGGAGGGAGGGAGGGAG 1,.,. -1 -1 -1 -1 -1 -1 PRELID2 53_non_coding 35,.,. 0.314286,.,. PRELID2/non_coding/ 0.0015 0.9354 1.6400 8 dominant HG002 HG002 chr5:145741863:A:T 1,.,. -1 -1 -1 -1 -1 -1 PRELID2 53_non_coding 44,.,. 0.568182,.,. PRELID2/non_coding/ 0.0015 0.9354 1.6400 8 dominant HG002 HG002 chr5:145741865:T:A 1,.,. -1 -1 -1 -1 -1 -1 PRELID2 53_non_coding 44,.,. 0.568182,.,. PRELID2/non_coding/ 0.0015 0.9354 1.6400 8 dominant HG002 HG002 chr5:145741869:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 PRELID2 53_non_coding 43,.,. 0.581395,.,. PRELID2/non_coding/ 0.0015 0.9354 1.6400 8 dominant HG002 HG002 chr5:145742154:A:T 1,.,. -1 -1 -1 -1 -1 -1 PRELID2 53_non_coding 43,.,. 0.604651,.,. PRELID2/non_coding/ 0.0015 0.9354 1.6400 8 dominant HG002 HG002 chr5:145742155:T:A 1,.,. 2.29319e-05 0 3 -1 -1 -1 PRELID2 53_non_coding 43,.,. 0.604651,.,. PRELID2/non_coding/ 0.0015 0.9354 1.6400 8 dominant HG002 HG002 chr5:145817438:T:A 1,.,. -1 -1 -1 0.00105116 0 3 PRELID2 50_intron 46,.,. 0.586957,.,. PRELID2/intron/ 0.0015 0.9354 1.6400 8 dominant HG002 HG002 chr5:145835241:G:A 1,.,. 1.97962e-05 0 3 -1 -1 -1 PRELID2 14_missense 40,.,. 0.5,.,. PRELID2/missense/ENST00000334744;PRELID2/missense/ENST00000505416;PRELID2/missense/ENST00000511435;PRELID2/5_prime_utr/ENST00000394450 0.0015 0.9354 1.6400 8 dominant HG002 HG002 chr5:146198776:A:ATGTG 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.35,.,. dominant HG002 HG002 chr5:146380761:A:AGAG 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.377778,.,. recessive HG002 HG002 chr5:146451736:T:A 2,.,. -1 -1 -1 -1 -1 -1 TCERG1 50_intron 34,.,. 1,.,. TCERG1/non_coding/;TCERG1/intron/ 1.0000 0.2355 0.3230 0 recessive HG002 HG002 chr5:146451737:A:T 2,.,. -1 -1 -1 -1 -1 -1 TCERG1 50_intron 34,.,. 1,.,. TCERG1/non_coding/;TCERG1/intron/ 1.0000 0.2355 0.3230 0 recessive HG002 HG002 chr5:146451738:T:A 2,.,. -1 -1 -1 -1 -1 -1 TCERG1 50_intron 34,.,. 1,.,. TCERG1/non_coding/;TCERG1/intron/ 1.0000 0.2355 0.3230 0 dominant HG002 HG002 chr5:146501918:T:G 1,.,. 2.63454e-05 0 3 -1 -1 -1 TCERG1 50_intron 61,.,. 0.42623,.,. TCERG1/intron/;TCERG1/non_coding/ 1.0000 0.2355 0.3230 0 dominant HG002 HG002 chr5:146613802:A:C 1,.,. 2.08792e-05 0 3 -1 -1 -1 PPP2R2B 50_intron 39,.,. 0.538462,.,. PPP2R2B/intron/;PPP2R2B/non_coding/ 1.0000 0.0671 0.1730 0 Spinocerebellar ataxia type 12 0.000 dominant HG002 HG002 chr5:146837574:C:T 1,.,. 1.97278e-05 0 3 -1 -1 -1 PPP2R2B 50_intron 44,.,. 0.522727,.,. PPP2R2B/intron/;PPP2R2B/non_coding/ 1.0000 0.0671 0.1730 0 Spinocerebellar ataxia type 12 0.000 dominant HG002 HG002 chr5:147229951:G:A 1,.,. 1.33344e-05 0 2 -1 -1 -1 32,.,. 0.53125,.,. recessive HG002 HG002 chr5:147265111:C:T 2,.,. 1.36143e-05 0 1 -1 -1 -1 STK32A 50_intron 45,.,. 1,.,. STK32A/non_coding/;STK32A/intron/ 0.0000 0.8799 1.1570 6 dominant HG002 HG002 chr5:147399166:TC:T 1,.,. -1 -1 -1 -1 -1 -1 DPYSL3 05_frameshift 34,.,. 0.441176,.,. DPYSL3/frameshift/ENST00000343218;DPYSL3/frameshift/ENST00000398514;DPYSL3/frameshift/ENST00000520473;DPYSL3/3_prime_utr&NMD_transcript/ENST00000523458 1.0000 0.2577 0.3910 0 dominant HG002 HG002 chr5:147399169:C:T 1,.,. 2.62746e-05 0 4 -1 -1 -1 DPYSL3 30_synonymous 34,.,. 0.441176,.,. DPYSL3/synonymous/ENST00000343218;DPYSL3/synonymous/ENST00000398514;DPYSL3/synonymous/ENST00000520473;DPYSL3/3_prime_utr&NMD_transcript/ENST00000523458 1.0000 0.2577 0.3910 0 dominant HG002 HG002 chr5:147399172:G:T 1,.,. -1 -1 -1 -1 -1 -1 DPYSL3 30_synonymous 34,.,. 0.441176,.,. DPYSL3/synonymous/ENST00000343218;DPYSL3/synonymous/ENST00000398514;DPYSL3/synonymous/ENST00000520473;DPYSL3/3_prime_utr&NMD_transcript/ENST00000523458 1.0000 0.2577 0.3910 0 dominant HG002 HG002 chr5:147788577:G:A 1,.,. 6.57298e-06 0 1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr5:148036974:G:A 1,.,. 2.01575e-05 0 3 -1 -1 -1 SPINK5 50_intron 41,.,. 0.512195,.,. SPINK5/intron/ 0.0000 0.7799 0.9080 4 Netherton syndrome 0.000 dominant HG002 HG002 chr5:148733586:C:T 1,.,. 2.62923e-05 0 4 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr5:148896684:CTT:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.615385,.,. dominant HG002 HG002 chr5:148918794:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr5:149085892:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. recessive HG002 HG002 chr5:149171922:CTATTCTAT:C 2,.,. -1 -1 -1 -1 -1 -1 ABLIM3 50_intron 33,.,. 1,.,. ABLIM3/intron/ 0.0000 0.5580 0.6910 2 recessive HG002 HG002 chr5:149171931:T:A 2,.,. -1 -1 -1 -1 -1 -1 ABLIM3 50_intron 35,.,. 1,.,. ABLIM3/intron/ 0.0000 0.5580 0.6910 2 dominant HG002 HG002 chr5:149598747:TATCTATATATAG:T 1,.,. -1 -1 -1 -1 -1 -1 ARHGEF37 50_intron 34,.,. 0.588235,.,. ARHGEF37/intron/ 0.0000 0.7672 0.9620 4 dominant HG002 HG002 chr5:149598761:T:G 1,.,. -1 -1 -1 -1 -1 -1 ARHGEF37 50_intron 34,.,. 0.588235,.,. ARHGEF37/intron/ 0.0000 0.7672 0.9620 4 recessive HG002 HG002 chr5:149649838:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr5:149649842:ATTT:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chr5:150494695:CTTTTCCTTTCTCTT:C 1,.,. -1 -1 -1 -1 -1 -1 NDST1 50_intron 28,.,. 0.321429,.,. NDST1/intron/;NDST1/non_coding/ 0.9866 0.3633 0.4840 1 Intellectual disability, autosomal recessive 46 0.000 dominant HG002 HG002 chr5:150624632:A:T 1,.,. -1 -1 -1 -1 -1 -1 SYNPO 50_intron 38,.,. 0.447368,.,. SYNPO/intron/ 0.5106 0.3943 0.5790 1 recessive HG002 HG002 chr5:150837979:A:G 2,.,. 0.00015849 3 22 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr5:150932904:GAATCCATGCCTA:G 2,.,. -1 -1 -1 -1 -1 -1 ZNF300P1 53_non_coding 37,.,. 1,.,. ZNF300P1/non_coding/ dominant HG002 HG002 chr5:150956701:C:CCAA 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr5:150956702:T:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr5:150956704:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr5:150961172:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr5:151239251:A:C 1,.,. -1 -1 -1 -1 -1 -1 GM2A 50_intron 36,.,. 0.527778,.,. GM2A/intron/ 0.1187 0.4906 0.9680 4 Tay-Sachs disease, variant AB 0.000 dominant HG002 HG002 chr5:151340177:G:GGAGGAGGA 1,.,. -1 -1 -1 -1 -1 -1 SLC36A2 50_intron 27,.,. 0.518519,.,. SLC36A2/intron/;SLC36A2/non_coding/ 0.0000 0.8307 1.0970 5 Iminoglycinuria 0.000 dominant HG002 HG002 chr5:151843036:C:T 1,.,. 1.31655e-05 0 2 -1 -1 -1 GLRA1 50_intron 35,.,. 0.371429,.,. GLRA1/intron/ 0.0000 0.7111 0.9750 4 Hyperekplexia 1 0.000 dominant HG002 HG002 chr5:151871940:G:A 1,.,. 1.33676e-05 0 2 -1 -1 -1 GLRA1 50_intron 45,.,. 0.577778,.,. GLRA1/intron/;GLRA1/non_coding/ 0.0000 0.7111 0.9750 4 Hyperekplexia 1 0.000 dominant HG002 HG002 chr5:152302464:A:G 1,.,. 6.56935e-06 0 1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr5:152637228:T:C 1,.,. 1.31499e-05 0 2 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr5:152845525:A:G 1,.,. 1.97371e-05 0 3 -1 -1 -1 55,.,. 0.490909,.,. dominant HG002 HG002 chr5:152858911:T:TA 1,.,. 2.70501e-05 0 4 -1 -1 -1 56,.,. 0.392857,.,. dominant HG002 HG002 chr5:152908413:G:A 1,.,. 1.97394e-05 0 3 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr5:153151771:GAT:G 1,.,. 6.62611e-06 0 1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr5:153222325:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr5:153265238:T:C 1,.,. 1.31396e-05 0 2 -1 -1 -1 55,.,. 0.4,.,. dominant HG002 HG002 chr5:153282990:G:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. recessive HG002 HG002 chr5:153328402:G:A 2,.,. 0.000107805 0 2 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr5:153461675:T:TA 1,.,. 1.31482e-05 0 2 -1 -1 -1 38,.,. 0.368421,.,. dominant HG002 HG002 chr5:153579004:A:AATGT 1,.,. -1 -1 -1 -1 -1 -1 GRIA1 50_intron 43,.,. 0.418605,.,. GRIA1/non_coding/;GRIA1/intron/ 0.9996 0.3265 0.4480 1 Intellectual developmental disorder, autosomal recessive 76;Intellectual developmental disorder, autosomal dominant 67 0.000 dominant HG002 HG002 chr5:153579005:T:C 1,.,. 1.31505e-05 0 2 -1 -1 -1 GRIA1 50_intron 42,.,. 0.404762,.,. GRIA1/non_coding/;GRIA1/intron/ 0.9996 0.3265 0.4480 1 Intellectual developmental disorder, autosomal recessive 76;Intellectual developmental disorder, autosomal dominant 67 0.000 dominant HG002 HG002 chr5:153579878:C:CA 1,.,. 8.43796e-06 0 1 -1 -1 -1 GRIA1 50_intron 42,.,. 0.404762,.,. GRIA1/non_coding/;GRIA1/intron/ 0.9996 0.3265 0.4480 1 Intellectual developmental disorder, autosomal recessive 76;Intellectual developmental disorder, autosomal dominant 67 0.000 dominant HG002 HG002 chr5:153579896:CAAA:C 1,.,. -1 -1 -1 -1 -1 -1 GRIA1 50_intron 42,.,. 0.404762,.,. GRIA1/non_coding/;GRIA1/intron/ 0.9996 0.3265 0.4480 1 Intellectual developmental disorder, autosomal recessive 76;Intellectual developmental disorder, autosomal dominant 67 0.000 dominant HG002 HG002 chr5:154288422:G:T 1,.,. -1 -1 -1 -1 -1 -1 GALNT10 50_intron 45,.,. 0.577778,.,. GALNT10/intron/;GALNT10/non_coding/ 0.0029 0.4890 0.6830 2 dominant HG002 HG002 chr5:154388144:G:A 1,.,. 2.63175e-05 0 4 -1 -1 -1 GALNT10 36_3_prime_utr 35,.,. 0.6,.,. GALNT10/3_prime_utr/ENST00000425427 0.0029 0.4890 0.6830 2 dominant HG002 HG002 chr5:154609843:T:TGCCCTCAGCTCC 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr5:154895045:C:CCTTGTTGCCTGTATCT 1,.,. -1 -1 -1 -1 -1 -1 GEMIN5 50_intron 31,.,. 0.451613,.,. GEMIN5/intron/ 0.0000 0.6946 0.8390 3 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0.000 dominant HG002 HG002 chr5:154895047:C:G 1,.,. -1 -1 -1 -1 -1 -1 GEMIN5 50_intron 32,.,. 0.4375,.,. GEMIN5/intron/ 0.0000 0.6946 0.8390 3 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0.000 dominant HG002 HG002 chr5:154895048:C:T 1,.,. -1 -1 -1 -1 -1 -1 GEMIN5 50_intron 32,.,. 0.4375,.,. GEMIN5/intron/ 0.0000 0.6946 0.8390 3 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0.000 dominant HG002 HG002 chr5:154895049:A:T 1,.,. -1 -1 -1 -1 -1 -1 GEMIN5 50_intron 32,.,. 0.4375,.,. GEMIN5/intron/ 0.0000 0.6946 0.8390 3 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0.000 dominant HG002 HG002 chr5:155112644:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr5:155369582:C:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.346154,.,. dominant HG002 HG002 chr5:155652662:C:T 1,.,. 1.31867e-05 0 2 -1 -1 -1 30,.,. 0.366667,.,. dominant HG002 HG002 chr5:155841033:G:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.625,.,. dominant HG002 HG002 chr5:156078518:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 SGCD 50_intron 45,.,. 0.4,.,. SGCD/intron/ 0.0541 0.5045 0.8800 4 Autosomal recessive limb-girdle muscular dystrophy type 2F;Dilated cardiomyopathy 1L;Primary dilated cardiomyopathy 0.000 dominant HG002 HG002 chr5:156999590:AAAATTAAATTAAATT:A 1,.,. 1.21477e-05 0 1 -1 -1 -1 34,.,. 0.352941,.,. recessive HG002 HG002 chr5:157017853:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr5:157017854:T:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr5:157017855:T:TGTAAC 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. dominant HG002 HG002 chr5:157063137:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. recessive HG002 HG002 chr5:157197630:T:A 2,.,. 1.62681e-05 0 1 -1 -1 -1 ITK 50_intron 30,.,. 1,.,. ITK/intron/;ITK/non_coding/ 0.0013 0.4795 0.6440 2 Lymphoproliferative syndrome 1 0.000 dominant HG002 HG002 chr5:157763207:A:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr5:157926001:G:A 1,.,. 1.31434e-05 0 2 -1 -1 -1 36,.,. 0.666667,.,. dominant HG002 HG002 chr5:157962908:GC:G 1,.,. 1.3151e-05 0 2 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr5:158093244:A:G 1,.,. 6.57263e-06 0 1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr5:158102822:ATG:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr5:158102826:G:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr5:158148621:T:TTCCC 1,.,. -1 -1 -1 0.00140154 0 4 25,.,. 0.4,.,. dominant HG002 HG002 chr5:158240014:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. recessive HG002 HG002 chr5:158488192:ATAGAACATATC:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr5:158488205:A:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. dominant HG002 HG002 chr5:158909333:C:CTGGTTTGGTT 1,.,. 6.57964e-06 0 1 -1 -1 -1 EBF1 50_intron 38,.,. 0.5,.,. EBF1/intron/;EBF1/non_coding/ 1.0000 0.1559 0.2640 0 dominant HG002 HG002 chr5:159167096:C:G 1,.,. 6.57289e-06 0 1 -1 -1 -1 RNF145 50_intron 39,.,. 0.538462,.,. RNF145/intron/;RNF145/non_coding/ 0.9999 0.1900 0.3570 0 dominant HG002 HG002 chr5:159312757:T:C 1,.,. 1.23919e-05 0 1 -1 -1 -1 53,.,. 0.301887,.,. dominant HG002 HG002 chr5:159312758:TCTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.307692,.,. dominant HG002 HG002 chr5:159333191:ATTAG:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr5:159455695:C:A 1,.,. 1.31461e-05 0 2 -1 -1 -1 40,.,. 0.575,.,. recessive HG002 HG002 chr5:160197782:A:T 2,.,. -1 -1 -1 -1 -1 -1 FABP6 50_intron 26,.,. 1,.,. FABP6/intron/ 0.0009 0.8101 1.3720 7 dominant HG002 HG002 chr5:160710180:C:T 1,.,. -1 -1 -1 0.00105116 0 3 ATP10B 50_intron 40,.,. 0.45,.,. ATP10B/intron/;ATP10B/non_coding/ 0.0000 0.8251 0.9640 4 dominant HG002 HG002 chr5:161322038:A:T 1,.,. 2.62857e-05 0 4 -1 -1 -1 GABRB2 50_intron 57,.,. 0.578947,.,. GABRB2/intron/ 0.9995 0.2682 0.4260 1 Developmental and epileptic encephalopathy 92 0.000 dominant HG002 HG002 chr5:161329363:G:GGAATCTATTGGC 1,.,. -1 -1 -1 -1 -1 -1 GABRB2 50_intron 42,.,. 0.5,.,. GABRB2/intron/;GABRB2/non_coding/ 0.9995 0.2682 0.4260 1 Developmental and epileptic encephalopathy 92 0.000 dominant HG002 HG002 chr5:161375216:G:C 1,.,. -1 -1 -1 -1 -1 -1 GABRB2 50_intron 40,.,. 0.3,.,. GABRB2/intron/;GABRB2/non_coding/ 0.9995 0.2682 0.4260 1 Developmental and epileptic encephalopathy 92 0.000 dominant HG002 HG002 chr5:161385945:CTG:C 1,.,. -1 -1 -1 -1 -1 -1 GABRB2 50_intron 44,.,. 0.477273,.,. GABRB2/intron/;GABRB2/non_coding/ 0.9995 0.2682 0.4260 1 Developmental and epileptic encephalopathy 92 0.000 dominant HG002 HG002 chr5:161648265:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 GABRA6 53_non_coding 45,.,. 0.4,.,. GABRA6/non_coding/ 0.0000 0.9208 1.1840 6 dominant HG002 HG002 chr5:161920854:C:A 1,.,. 6.57203e-06 0 1 -1 -1 -1 51,.,. 0.470588,.,. recessive HG002 HG002 chr5:162252215:A:ATTTATC 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr5:162252219:C:A 2,.,. 1.97842e-05 0 3 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr5:162286306:G:A 1,.,. 6.57289e-06 0 1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr5:162317574:A:ATATATG 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr5:162781483:T:TATATACATATATATGA 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr5:162781580:A:T 1,.,. 0.000496771 1 2 0.00140154 0 4 44,.,. 0.568182,.,. dominant HG002 HG002 chr5:162782031:T:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr5:162906792:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.333333,.,. dominant HG002 HG002 chr5:163138524:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.363636,.,. dominant HG002 HG002 chr5:163154023:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr5:163154027:C:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.7,.,. dominant HG002 HG002 chr5:163383812:A:AAGGAAGGAAGGG 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. recessive HG002 HG002 chr5:163659479:TGCTCTAGTGCCC:T 2,.,. 0.00221642 0 56 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr5:163659504:C:A 2,.,. 0.00083612 0 21 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr5:164248216:C:T 1,.,. 1.97018e-05 0 3 -1 -1 -1 44,.,. 0.522727,.,. recessive HG002 HG002 chr5:164372683:T:A 2,.,. 0.00618565 3 942 0.00210231 0 6 48,.,. 1,.,. dominant HG002 HG002 chr5:164380102:ATACACACATGTGTATATGTGTATATATACACACATGTGTATATGTGTATATATACACACATGTGTATATG:A 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.45098,.,. recessive HG002 HG002 chr5:164431202:GAGCCT:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr5:164431209:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr5:164431210:C:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr5:165471236:C:CAAAAGA 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr5:165471238:G:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr5:165746272:G:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr5:166028602:C:T 1,.,. 2.641e-05 0 4 -1 -1 -1 RPL7P20 53_non_coding 46,.,. 0.478261,.,. RPL7P20/non_coding/ recessive HG002 HG002 chr5:166683505:A:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr5:166683507:A:ATAT 2,.,. 7.02267e-06 0 1 -1 -1 -1 56,.,. 1,.,. dominant HG002 HG002 chr5:166768545:T:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.404762,.,. recessive HG002 HG002 chr5:166896295:TAACTGCA:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr5:166896303:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. dominant HG002 HG002 chr5:166976045:G:GTGTGTGTGTC 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr5:166976057:G:GTGTGTC 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.277778,.,. dominant HG002 HG002 chr5:167062480:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr5:167078496:C:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr5:168777099:A:T 1,.,. -1 -1 -1 0.00140154 0 4 SLIT3 50_intron 31,.,. 0.483871,.,. SLIT3/intron/;SLIT3/non_coding/ 0.9715 0.3857 0.4760 1 dominant HG002 HG002 chr5:168777101:ACACACCCC:A 1,.,. -1 -1 -1 -1 -1 -1 SLIT3 50_intron 31,.,. 0.483871,.,. SLIT3/intron/;SLIT3/non_coding/ 0.9715 0.3857 0.4760 1 dominant HG002 HG002 chr5:169667770:A:G 1,.,. -1 -1 -1 -1 -1 -1 DOCK2 50_intron 44,.,. 0.522727,.,. DOCK2/intron/;DOCK2/non_coding/ 1.0000 0.3536 0.4210 1 DOCK2 deficiency 0.000 dominant HG002 HG002 chr5:170104881:C:CGT 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr5:170171749:T:G 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.423077,.,. dominant HG002 HG002 chr5:170171750:C:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.423077,.,. dominant HG002 HG002 chr5:170179126:G:T 1,.,. 6.57117e-06 0 1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr5:170534504:GAGGAGAAGGAGA:G 1,.,. 1.11119e-05 0 1 -1 -1 -1 KCNIP1 50_intron 19,.,. 0.315789,.,. KCNIP1/intron/ 0.2237 0.4277 0.7460 3 dominant HG002 HG002 chr5:170985044:CACACAG:C 1,.,. 4.48229e-05 0 1 -1 -1 -1 RANBP17 50_intron 47,.,. 0.425532,.,. RANBP17/intron/ 0.0000 1.1405 1.3800 7 dominant HG002 HG002 chr5:170985052:C:G 1,.,. -1 -1 -1 -1 -1 -1 RANBP17 50_intron 47,.,. 0.425532,.,. RANBP17/intron/ 0.0000 1.1405 1.3800 7 dominant HG002 HG002 chr5:171375442:A:ACAT 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr5:171375443:A:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr5:171669161:T:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr5:172273091:AAAAAT:A 1,.,. 3.72958e-05 0 3 -1 -1 -1 UBTD2 50_intron 29,.,. 0.37931,.,. UBTD2/intron/ 0.1044 0.4677 0.8160 3 dominant HG002 HG002 chr5:172273102:T:A 1,.,. -1 -1 -1 -1 -1 -1 UBTD2 50_intron 32,.,. 0.46875,.,. UBTD2/intron/ 0.1044 0.4677 0.8160 3 dominant HG002 HG002 chr5:172502301:T:TTGTGTGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chr5:173096463:T:TC 1,.,. -1 -1 -1 0.000700771 0 2 CREBRF 50_intron 41,.,. 0.463415,.,. CREBRF/intron/;CREBRF/non_coding/ 1.0000 0.0758 0.1730 0 dominant HG002 HG002 chr5:173347313:T:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. recessive HG002 HG002 chr5:173471089:C:T 2,.,. 0.00226386 1 166 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr5:174129631:G:A 1,.,. -1 -1 -1 -1 -1 -1 NSG2 50_intron 27,.,. 0.37037,.,. NSG2/intron/ 0.9523 0.1012 0.4800 1 recessive HG002 HG002 chr5:174190741:C:A 2,.,. 0.000360458 0 16 -1 -1 -1 NSG2 50_intron 39,.,. 1,.,. NSG2/intron/ 0.9523 0.1012 0.4800 1 recessive HG002 HG002 chr5:174191589:C:T 2,.,. 0.000107255 0 5 -1 -1 -1 NSG2 50_intron 39,.,. 1,.,. NSG2/intron/ 0.9523 0.1012 0.4800 1 dominant HG002 HG002 chr5:174318869:C:CCT 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.617647,.,. dominant HG002 HG002 chr5:174318871:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.617647,.,. dominant HG002 HG002 chr5:174643428:T:C 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.565217,.,. dominant HG002 HG002 chr5:174733543:A:C 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.333333,.,. dominant HG002 HG002 chr5:174822311:G:A 1,.,. 1.31458e-05 0 2 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr5:174982814:T:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr5:174982815:C:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr5:175328842:GACAAGATGGA:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr5:175328854:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. recessive HG002 HG002 chr5:175362666:T:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr5:176109950:C:G 1,.,. -1 -1 -1 -1 -1 -1 FAM153B;AC139491.7 50_intron 25,.,. 0.64,.,. FAM153B/intron/;AC139491.7/intron/ 0.8229 0.3229 0.6060 2 recessive HG002 HG002 chr5:176271930:A:T 2,.,. 6.44358e-05 0 3 -1 -1 -1 SIMC1 50_intron 36,.,. 1,.,. SIMC1/intron/;SIMC1/non_coding/ 0.0000 0.7134 0.8880 4 dominant HG002 HG002 chr5:176642861:C:CCCTCCCCG 1,.,. -1 -1 -1 -1 -1 -1 EIF4E1B 50_intron 19,.,. 0.315789,.,. EIF4E1B/intron/;EIF4E1B/non_coding/ 0.0000 0.7595 1.0850 5 recessive HG002 HG002 chr5:176861824:G:GGAGGCCAGGC 2,.,. -1 -1 -1 -1 -1 -1 UNC5A 50_intron 13,.,. 1,.,. UNC5A/intron/ 1.0000 0.2382 0.3460 0 recessive HG002 HG002 chr5:176861825:A:T 2,.,. -1 -1 -1 -1 -1 -1 UNC5A 50_intron 13,.,. 1,.,. UNC5A/intron/ 1.0000 0.2382 0.3460 0 recessive HG002 HG002 chr5:177088815:C:A 2,.,. 1.31938e-05 0 2 -1 -1 -1 FGFR4 50_intron 21,.,. 1,.,. FGFR4/intron/;FGFR4/non_coding/ 0.0000 0.7171 0.8840 4 dominant HG002 HG002 chr5:177645879:CGGGAGG:C 1,.,. -1 -1 -1 -1 -1 -1 AC139795.1 53_non_coding 43,.,. 0.44186,.,. AC139795.1/non_coding/ recessive HG002 HG002 chr5:177903429:T:C 2,.,. -1 -1 -1 -1 -1 -1 AC106795.1 53_non_coding 10,.,. 1,.,. AC106795.1/non_coding/ dominant HG002 HG002 chr5:178012039:C:T 1,.,. -1 -1 -1 -1 -1 -1 FAM153CP 53_non_coding 31,.,. 0.580645,.,. FAM153CP/non_coding/ dominant HG002 HG002 chr5:178012041:C:T 1,.,. -1 -1 -1 -1 -1 -1 FAM153CP 53_non_coding 32,.,. 0.5625,.,. FAM153CP/non_coding/ dominant HG002 HG002 chr5:178014875:G:A 1,.,. -1 -1 -1 0.000700771 0 2 FAM153CP 53_non_coding 31,.,. 0.483871,.,. FAM153CP/non_coding/ dominant HG002 HG002 chr5:178261006:A:ATCTGTAGC 1,.,. -1 -1 -1 -1 -1 -1 COL23A1 50_intron 29,.,. 0.413793,.,. COL23A1/intron/ 0.0000 1.1113 1.3240 7 dominant HG002 HG002 chr5:178261007:C:A 1,.,. -1 -1 -1 -1 -1 -1 COL23A1 50_intron 29,.,. 0.413793,.,. COL23A1/intron/ 0.0000 1.1113 1.3240 7 dominant HG002 HG002 chr5:178261009:C:G 1,.,. -1 -1 -1 -1 -1 -1 COL23A1 50_intron 29,.,. 0.413793,.,. COL23A1/intron/ 0.0000 1.1113 1.3240 7 dominant HG002 HG002 chr5:178261010:A:T 1,.,. -1 -1 -1 -1 -1 -1 COL23A1 50_intron 29,.,. 0.413793,.,. COL23A1/intron/ 0.0000 1.1113 1.3240 7 dominant HG002 HG002 chr5:178302177:G:C 1,.,. -1 -1 -1 -1 -1 -1 COL23A1 50_intron 32,.,. 0.4375,.,. COL23A1/intron/ 0.0000 1.1113 1.3240 7 dominant HG002 HG002 chr5:178322602:G:A 1,.,. -1 -1 -1 -1 -1 -1 COL23A1 50_intron 31,.,. 0.516129,.,. COL23A1/intron/ 0.0000 1.1113 1.3240 7 dominant HG002 HG002 chr5:178322604:GGT:G 1,.,. -1 -1 -1 -1 -1 -1 COL23A1 50_intron 31,.,. 0.516129,.,. COL23A1/intron/ 0.0000 1.1113 1.3240 7 dominant HG002 HG002 chr5:178322607:C:T 1,.,. -1 -1 -1 -1 -1 -1 COL23A1 50_intron 31,.,. 0.516129,.,. COL23A1/intron/ 0.0000 1.1113 1.3240 7 dominant HG002 HG002 chr5:178473071:TGTG:T 1,.,. -1 -1 -1 -1 -1 -1 COL23A1 50_intron 28,.,. 0.5,.,. COL23A1/intron/ 0.0000 1.1113 1.3240 7 dominant HG002 HG002 chr5:178473075:A:C 1,.,. -1 -1 -1 -1 -1 -1 COL23A1 50_intron 28,.,. 0.5,.,. COL23A1/intron/ 0.0000 1.1113 1.3240 7 dominant HG002 HG002 chr5:178473077:TGTGCCACTGCACTCCAGCCTGGGTGACAGA:T 1,.,. -1 -1 -1 -1 -1 -1 COL23A1 50_intron 28,.,. 0.5,.,. COL23A1/intron/ 0.0000 1.1113 1.3240 7 dominant HG002 HG002 chr5:178593235:A:G 1,.,. -1 -1 -1 -1 -1 -1 16,.,. 0.4375,.,. dominant HG002 HG002 chr5:178834351:A:ACAAAGAG 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr5:178834352:T:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr5:178834353:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr5:178834354:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr5:178835451:CATT:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr5:178835456:T:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr5:178837655:CACACACAT:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr5:179080746:ACTCT:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF354C 36_3_prime_utr 43,.,. 0.511628,.,. ZNF354C/3_prime_utr/ENST00000315475 0.0990 0.4910 0.9220 4 dominant HG002 HG002 chr5:179299410:T:A 1,.,. 3.67235e-05 1 4 0.00140154 0 4 ADAMTS2 50_intron 24,.,. 0.666667,.,. ADAMTS2/intron/ 0.0010 0.4506 0.5680 1 Ehlers-Danlos syndrome, dermatosparaxis type 0.000 dominant HG002 HG002 chr5:179313703:C:T 1,.,. 3.84704e-05 0 1 -1 -1 -1 ADAMTS2 50_intron 20,.,. 0.55,.,. ADAMTS2/intron/ 0.0010 0.4506 0.5680 1 Ehlers-Danlos syndrome, dermatosparaxis type 0.000 dominant HG002 HG002 chr5:179313886:ACACT:A 1,.,. -1 -1 -1 -1 -1 -1 ADAMTS2 50_intron 21,.,. 0.52381,.,. ADAMTS2/intron/ 0.0010 0.4506 0.5680 1 Ehlers-Danlos syndrome, dermatosparaxis type 0.000 dominant HG002 HG002 chr5:179589576:C:T 1,.,. 2.62795e-05 0 4 0.000700771 0 2 RUFY1 14_missense 25,.,. 0.52,.,. RUFY1/missense/ENST00000319449;RUFY1/missense/ENST00000437570;RUFY1/missense/ENST00000393438;RUFY1/missense/ENST00000508609;RUFY1/missense&NMD_transcript/ENST00000393448 0.0000 0.6206 0.8130 3 recessive HG002 HG002 chr5:179622932:G:C 2,.,. -1 -1 -1 0.00315347 2 9 HNRNPH1 50_intron 23,.,. 1,.,. HNRNPH1/intron/;HNRNPH1/non_coding/ 1.0000 0.0360 0.1130 0 Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects 0.000 recessive HG002 HG002 chr5:179622933:G:A 2,.,. -1 -1 -1 0.00315347 2 9 HNRNPH1 50_intron 24,.,. 1,.,. HNRNPH1/intron/;HNRNPH1/non_coding/ 1.0000 0.0360 0.1130 0 Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects 0.000 dominant HG002 HG002 chr5:179748957:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 MAML1 50_intron 39,.,. 0.487179,.,. MAML1/intron/ 1.0000 0.1915 0.2990 0 dominant HG002 HG002 chr5:180351596:A:G 1,.,. 1.9706e-05 0 3 -1 -1 -1 GFPT2 50_intron 25,.,. 0.48,.,. GFPT2/intron/;GFPT2/non_coding/ 0.0000 0.8617 1.1260 6 recessive HG002 HG002 chr5:180369621:A:G 2,.,. 9.09852e-06 0 1 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chr5:180486106:T:TCTTTCTTCCTTGCTGCTTCTACGTGGACCTCGGGCCTCTGC 1,.,. -1 -1 -1 0.000700771 0 2 21,.,. 0.333333,.,. recessive HG002 HG002 chr5:180557361:A:G 2,.,. -1 -1 -1 -1 -1 -1 CNOT6 50_intron 40,.,. 1,.,. CNOT6/intron/;CNOT6/non_coding/ 1.0000 0.1887 0.3200 0 recessive HG002 HG002 chr5:180631911:CCGCGTGGCCTGGCCT:C 2,.,. -1 -1 -1 -1 -1 -1 FLT4 50_intron 15,.,. 1,.,. FLT4/intron/;FLT4/non_coding/ 1.0000 0.1953 0.2650 0 Congenital heart defects, multiple types, 7;Capillary infantile hemangioma;Hereditary lymphedema type I 0.000 recessive HG002 HG002 chr5:180631928:A:C 2,.,. -1 -1 -1 -1 -1 -1 FLT4 50_intron 15,.,. 1,.,. FLT4/intron/;FLT4/non_coding/ 1.0000 0.1953 0.2650 0 Congenital heart defects, multiple types, 7;Capillary infantile hemangioma;Hereditary lymphedema type I 0.000 dominant HG002 HG002 chr5:180659950:G:A 1,.,. 6.57609e-06 0 1 -1 -1 -1 34,.,. 0.647059,.,. dominant HG002 HG002 chr5:181053020:C:G 1,.,. -1 -1 -1 -1 -1 -1 BTNL9 50_intron 23,.,. 0.434783,.,. BTNL9/intron/;BTNL9/non_coding/ 0.0000 1.0335 1.3250 7 dominant HG002 HG002 chr5:181257901:A:G 1,.,. 1.31738e-05 0 2 -1 -1 -1 TRIM52 50_intron 32,.,. 0.53125,.,. TRIM52/non_coding/;TRIM52/intron/ 0.0000 0.7980 1.1070 6 dominant HG002 HG002 chr5:181280850:C:T 1,.,. 1.33292e-05 0 2 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr6:147932:A:T 1,.,. 2.20022e-05 0 2 -1 -1 -1 23,.,. 0.565217,.,. dominant HG002 HG002 chr6:147934:C:A 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.565217,.,. dominant HG002 HG002 chr6:147955:C:T 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.565217,.,. dominant HG002 HG002 chr6:242762:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.380952,.,. dominant HG002 HG002 chr6:519922:C:A 1,.,. -1 -1 -1 0.00140154 0 4 EXOC2 50_intron 32,.,. 0.375,.,. EXOC2/intron/ 0.0000 0.5040 0.6260 2 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 0.000 dominant HG002 HG002 chr6:520135:G:A 1,.,. -1 -1 -1 -1 -1 -1 EXOC2 50_intron 32,.,. 0.40625,.,. EXOC2/intron/ 0.0000 0.5040 0.6260 2 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 0.000 dominant HG002 HG002 chr6:520540:C:T 1,.,. -1 -1 -1 0.00140154 0 4 EXOC2 50_intron 32,.,. 0.375,.,. EXOC2/intron/ 0.0000 0.5040 0.6260 2 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 0.000 dominant HG002 HG002 chr6:615176:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 EXOC2 50_intron 38,.,. 0.368421,.,. EXOC2/intron/ 0.0000 0.5040 0.6260 2 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 0.000 recessive HG002 HG002 chr6:676672:T:G 2,.,. -1 -1 -1 0.024527 0 70 EXOC2 50_intron 37,.,. 1,.,. EXOC2/intron/ 0.0000 0.5040 0.6260 2 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 0.000 recessive HG002 HG002 chr6:736240:G:C 2,.,. 0.000102736 0 14 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr6:886304:ATTTATTAT:A 1,.,. 0.000216216 0 4 -1 -1 -1 39,.,. 0.358974,.,. dominant HG002 HG002 chr6:994282:C:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr6:1214589:G:T 1,.,. 9.43159e-05 0 3 -1 -1 -1 32,.,. 0.375,.,. dominant HG002 HG002 chr6:1214590:T:G 1,.,. 2.01762e-05 0 3 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr6:1521368:T:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.351351,.,. dominant HG002 HG002 chr6:1625395:G:A 1,.,. -1 -1 -1 -1 -1 -1 GMDS 50_intron 26,.,. 0.653846,.,. GMDS/intron/;GMDS/non_coding/ 0.5374 0.3644 0.7190 2 dominant HG002 HG002 chr6:2232070:T:C 1,.,. -1 -1 -1 -1 -1 -1 GMDS 50_intron 29,.,. 0.344828,.,. GMDS/intron/ 0.5374 0.3644 0.7190 2 dominant HG002 HG002 chr6:2504935:C:CCCTCCATATCTCCTCCTCACCCCTCATCTCCTCCTCACCCTCCTCATCTCCTCCTCATCCCTCCTCAACTCCTCCTCACCCCTCCATATCTCCTCCTCACCCCT 1,.,. -1 -1 -1 0.000700771 0 2 29,.,. 0.551724,.,. dominant HG002 HG002 chr6:2815009:G:A 1,.,. 1.31432e-05 0 2 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr6:3076695:A:AATAC 1,.,. -1 -1 -1 -1 -1 -1 RIPK1 50_intron 40,.,. 0.275,.,. RIPK1/non_coding/;RIPK1/intron/ 0.2105 0.4169 0.6000 2 Immunodeficiency 57;Autoinflammation with episodic fever and lymphadenopathy 0.000 dominant HG002 HG002 chr6:3087422:G:T 1,.,. -1 -1 -1 -1 -1 -1 RIPK1 50_intron 35,.,. 0.4,.,. RIPK1/non_coding/;RIPK1/intron/ 0.2105 0.4169 0.6000 2 Immunodeficiency 57;Autoinflammation with episodic fever and lymphadenopathy 0.000 dominant HG002 HG002 chr6:3145616:C:CG 1,.,. 6.69075e-05 0 1 -1 -1 -1 BPHL 50_intron 30,.,. 0.4,.,. BPHL/intron/;BPHL/non_coding/ 0.0000 0.9154 1.2620 7 dominant HG002 HG002 chr6:3429487:ATTAGCCC:A 1,.,. -1 -1 -1 -1 -1 -1 SLC22A23 50_intron 29,.,. 0.448276,.,. SLC22A23/intron/ 0.0244 0.4508 0.6300 2 dominant HG002 HG002 chr6:3633708:C:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr6:3709106:C:G 1,.,. 1.31439e-05 0 2 -1 -1 -1 55,.,. 0.563636,.,. recessive HG002 HG002 chr6:3719899:TTCC:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr6:3719904:C:T 2,.,. 9.2816e-05 0 4 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr6:3737378:A:T 1,.,. 1.31385e-05 0 2 -1 -1 -1 PXDC1 50_intron 34,.,. 0.558824,.,. PXDC1/non_coding/;PXDC1/intron/ 0.4403 0.3772 0.7930 3 dominant HG002 HG002 chr6:3842216:G:A 1,.,. 2.62833e-05 0 4 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr6:3886035:T:A 1,.,. 2.63911e-05 0 4 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr6:3946590:G:GTGTGTGTGTT 1,.,. 3.77017e-05 0 2 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr6:4095620:G:A 1,.,. 1.97109e-05 0 3 -1 -1 -1 C6orf201 50_intron 38,.,. 0.473684,.,. C6orf201/intron/;C6orf201/non_coding/ dominant HG002 HG002 chr6:4418474:C:CAAAT 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr6:4428483:T:C 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.392857,.,. dominant HG002 HG002 chr6:4428486:C:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.392857,.,. dominant HG002 HG002 chr6:4787836:G:A 1,.,. 1.50905e-05 0 2 -1 -1 -1 CDYL 50_intron 38,.,. 0.421053,.,. CDYL/intron/;CDYL/non_coding/ 1.0000 0.1557 0.2930 0 dominant HG002 HG002 chr6:5273255:A:T 1,.,. -1 -1 -1 -1 -1 -1 FARS2 50_intron 44,.,. 0.431818,.,. FARS2/intron/ 0.0000 0.7591 1.0150 5 Hereditary spastic paraplegia 77;Combined oxidative phosphorylation defect type 14 0.000 dominant HG002 HG002 chr6:5273256:T:G 1,.,. -1 -1 -1 -1 -1 -1 FARS2 50_intron 44,.,. 0.431818,.,. FARS2/intron/ 0.0000 0.7591 1.0150 5 Hereditary spastic paraplegia 77;Combined oxidative phosphorylation defect type 14 0.000 dominant HG002 HG002 chr6:5273257:A:T 1,.,. -1 -1 -1 -1 -1 -1 FARS2 50_intron 44,.,. 0.431818,.,. FARS2/intron/ 0.0000 0.7591 1.0150 5 Hereditary spastic paraplegia 77;Combined oxidative phosphorylation defect type 14 0.000 dominant HG002 HG002 chr6:5273258:T:G 1,.,. -1 -1 -1 -1 -1 -1 FARS2 50_intron 44,.,. 0.431818,.,. FARS2/intron/ 0.0000 0.7591 1.0150 5 Hereditary spastic paraplegia 77;Combined oxidative phosphorylation defect type 14 0.000 dominant HG002 HG002 chr6:5381404:C:CACACACAT 1,.,. -1 -1 -1 -1 -1 -1 FARS2 50_intron 27,.,. 0.37037,.,. FARS2/intron/ 0.0000 0.7591 1.0150 5 Hereditary spastic paraplegia 77;Combined oxidative phosphorylation defect type 14 0.000 recessive HG002 HG002 chr6:6046353:A:ATATACATATGGAATC 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr6:6341529:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.348837,.,. dominant HG002 HG002 chr6:6561512:TTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr6:6880747:A:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. recessive HG002 HG002 chr6:6953576:C:CTGA 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr6:6953577:A:T 2,.,. 8.80468e-06 0 1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr6:6990229:TAAAATAAA:T 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr6:7315932:T:TGA 1,.,. -1 -1 -1 -1 -1 -1 SSR1 53_non_coding 27,.,. 0.62963,.,. SSR1/non_coding/ 0.6239 0.3624 0.6540 2 dominant HG002 HG002 chr6:7315933:A:G 1,.,. 6.57947e-06 0 1 -1 -1 -1 SSR1 53_non_coding 27,.,. 0.62963,.,. SSR1/non_coding/ 0.6239 0.3624 0.6540 2 recessive HG002 HG002 chr6:7443188:A:ATC 2,.,. 2.11131e-05 0 1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr6:7443192:T:C 2,.,. 0.000112538 0 17 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr6:7557769:GTACCACTGTA:G 1,.,. -1 -1 -1 -1 -1 -1 DSP 50_intron 36,.,. 0.5,.,. DSP/intron/ 0.9999 0.3797 0.4430 1 Arrhythmogenic right ventricular dysplasia 8;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Lethal acantholytic epidermolysis bullosa;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Keratosis palmoplantaris striata 2;Arrhythmogenic right ventricular cardiomyopathy 0.000 dominant HG002 HG002 chr6:7557780:C:G 1,.,. -1 -1 -1 -1 -1 -1 DSP 50_intron 36,.,. 0.5,.,. DSP/intron/ 0.9999 0.3797 0.4430 1 Arrhythmogenic right ventricular dysplasia 8;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis;Lethal acantholytic epidermolysis bullosa;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Keratosis palmoplantaris striata 2;Arrhythmogenic right ventricular cardiomyopathy 0.000 dominant HG002 HG002 chr6:7655278:A:G 1,.,. 1.97047e-05 0 3 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr6:7925484:A:AACACACACAC 1,.,. -1 -1 -1 -1 -1 -1 BLOC1S5-TXNDC5 50_intron 36,.,. 0.444444,.,. BLOC1S5-TXNDC5/intron/ dominant HG002 HG002 chr6:8099765:C:A 1,.,. -1 -1 -1 -1 -1 -1 EEF1E1-BLOC1S5;EEF1E1 50_intron 28,.,. 0.357143,.,. EEF1E1-BLOC1S5/intron/;EEF1E1/intron/ 0.0001 0.8496 1.3500 7 dominant HG002 HG002 chr6:8185093:A:ATAT 1,.,. 2.86082e-05 0 4 -1 -1 -1 45,.,. 0.355556,.,. dominant HG002 HG002 chr6:8467470:G:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.62069,.,. dominant HG002 HG002 chr6:8584255:G:T 1,.,. 5.58597e-05 0 1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr6:8645788:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. recessive HG002 HG002 chr6:8754254:G:GAGTAACAT 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr6:8754257:A:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr6:8808685:TGTGC:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.581395,.,. dominant HG002 HG002 chr6:8808691:T:C 1,.,. 2.19655e-05 0 2 -1 -1 -1 45,.,. 0.577778,.,. dominant HG002 HG002 chr6:8856114:A:C 1,.,. 6.61726e-06 0 1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr6:8856115:G:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr6:8856116:A:G 1,.,. 6.61664e-06 0 1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr6:8856117:G:A 1,.,. 6.31313e-05 0 1 -1 -1 -1 36,.,. 0.388889,.,. recessive HG002 HG002 chr6:9163893:A:AACTTATTACC 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr6:9163894:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr6:9288611:A:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.369565,.,. dominant HG002 HG002 chr6:9289137:C:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.425532,.,. dominant HG002 HG002 chr6:9290098:T:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.428571,.,. dominant HG002 HG002 chr6:9290613:A:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr6:9298278:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.365854,.,. dominant HG002 HG002 chr6:9303481:G:T 1,.,. 6.58103e-06 0 1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr6:9906506:G:A 1,.,. -1 -1 -1 -1 -1 -1 OFCC1 53_non_coding 54,.,. 0.555556,.,. OFCC1/non_coding/ dominant HG002 HG002 chr6:10003564:T:C 1,.,. -1 -1 -1 -1 -1 -1 OFCC1 53_non_coding 41,.,. 0.365854,.,. OFCC1/non_coding/ dominant HG002 HG002 chr6:10275518:G:A 1,.,. 2.63657e-05 0 4 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr6:10295307:G:C 1,.,. 0.00146735 0 4 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr6:10295308:G:T 1,.,. 0.00135593 0 4 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr6:10320631:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr6:10320634:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr6:10604877:A:AAAAG 1,.,. -1 -1 -1 -1 -1 -1 GCNT2 50_intron 29,.,. 0.517241,.,. GCNT2/intron/;GCNT2/non_coding/ 0.0000 0.9926 1.3690 7 Blood group, I system;Cataract 13 with adult I phenotype 0.000 dominant HG002 HG002 chr6:10971798:C:CTCAGCCTCT 1,.,. -1 -1 -1 -1 -1 -1 SYCP2L 50_intron 46,.,. 0.478261,.,. SYCP2L/intron/;SYCP2L/non_coding/ 0.0000 0.7813 0.9400 4 Premature ovarian failure 24 dominant HG002 HG002 chr6:10971800:A:G 1,.,. -1 -1 -1 -1 -1 -1 SYCP2L 50_intron 46,.,. 0.478261,.,. SYCP2L/intron/;SYCP2L/non_coding/ 0.0000 0.7813 0.9400 4 Premature ovarian failure 24 dominant HG002 HG002 chr6:11617978:CCCG:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr6:11617983:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. recessive HG002 HG002 chr6:11836817:CATATTGGA:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. recessive HG002 HG002 chr6:11836828:A:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. dominant HG002 HG002 chr6:11953148:C:CA 1,.,. -1 -1 -1 0.00105116 0 3 44,.,. 0.409091,.,. recessive HG002 HG002 chr6:11971582:G:GTGACA 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr6:11971583:A:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. dominant HG002 HG002 chr6:12429427:A:AT 1,.,. 2.64107e-05 0 4 -1 -1 -1 35,.,. 0.742857,.,. dominant HG002 HG002 chr6:13300939:G:A 1,.,. -1 -1 -1 -1 -1 -1 TBC1D7 50_intron 51,.,. 0.529412,.,. TBC1D7/intron/ 0.0000 1.0497 1.4310 7 Macrocephaly/megalencephaly syndrome, autosomal recessive 0.000 recessive HG002 HG002 chr6:13402587:CATCAGT:C 2,.,. -1 -1 -1 -1 -1 -1 GFOD1 50_intron 45,.,. 1,.,. GFOD1/intron/ 0.6706 0.3608 0.6300 2 recessive HG002 HG002 chr6:13477214:G:GGTGT 2,.,. -1 -1 -1 -1 -1 -1 GFOD1 50_intron 27,.,. 1,.,. GFOD1/intron/;GFOD1/non_coding/ 0.6706 0.3608 0.6300 2 dominant HG002 HG002 chr6:13618309:G:A 1,.,. 2.63532e-05 0 4 -1 -1 -1 NOL7 50_intron 38,.,. 0.605263,.,. NOL7/intron/;NOL7/non_coding/ 0.0000 0.9869 1.3690 7 dominant HG002 HG002 chr6:13618316:C:T 1,.,. 2.63362e-05 0 4 -1 -1 -1 NOL7 50_intron 38,.,. 0.605263,.,. NOL7/intron/;NOL7/non_coding/ 0.0000 0.9869 1.3690 7 dominant HG002 HG002 chr6:14066690:C:G 1,.,. -1 -1 -1 0.000700771 0 2 36,.,. 0.277778,.,. recessive HG002 HG002 chr6:14069317:A:AGT 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr6:14069319:G:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr6:14285746:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr6:14285748:A:ATACTC 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr6:14632096:C:T 2,.,. -1 -1 -1 0.0255781 1 73 30,.,. 1,.,. recessive HG002 HG002 chr6:14745070:TTAAATATTTGCACTTTTATTTCTCTCCCATATAATCACCTCAACTTCAGTTTATGCAAATATGTGAAATCTTCAAACATAATAGGAAGCCAAGTTGCTCACAGAAAGGAAACCTATGACAACCTTCATTACTGCATGCCAAAAATGTCAGGCCAATCTACTAATTTACTAGAACCAAGATAAAACCAGCTCAGCCAGCCAGCGCTCAGGAGTTCCCTCTCAAACATATGCAGGGTTAACAAAATATTGAGCCTAAACTCATTTGGAAAATGAGCATGTGTTTTTTTTTTTTTAAGCAGAGGCTGCTTGCTGACCCAGCCTTCCAGTCAAACAGCTAAAACTCAGCTTGTCCTGTTTCCCTTGAGGTCTGAGTTCTAAAGTCCCCTAGTTTCAATAC:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr6:15088390:CTTTCTT:C 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.388889,.,. dominant HG002 HG002 chr6:15102512:AT:A 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.65,.,. dominant HG002 HG002 chr6:16023300:C:CT 1,.,. -1 -1 -1 0.000700771 0 2 35,.,. 0.314286,.,. dominant HG002 HG002 chr6:16023305:C:CT 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.314286,.,. dominant HG002 HG002 chr6:16044674:GACATA:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.575,.,. dominant HG002 HG002 chr6:16044680:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.575,.,. recessive HG002 HG002 chr6:17051993:G:T 2,.,. 6.60598e-06 0 1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr6:17069421:T:C 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.4,.,. dominant HG002 HG002 chr6:17294039:CCT:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr6:17294043:A:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr6:17965316:ACC:A 1,.,. -1 -1 -1 -1 -1 -1 KIF13A 50_intron 49,.,. 0.55102,.,. KIF13A/intron/;KIF13A/non_coding/ 0.9918 0.3761 0.4710 1 dominant HG002 HG002 chr6:17965319:A:G 1,.,. 6.57117e-06 0 1 -1 -1 -1 KIF13A 50_intron 47,.,. 0.574468,.,. KIF13A/intron/;KIF13A/non_coding/ 0.9918 0.3761 0.4710 1 recessive HG002 HG002 chr6:18562989:C:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr6:18562990:T:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr6:19522669:TTTTTGAG:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr6:19522679:T:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr6:19522680:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr6:19787420:T:TTATATA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.324324,.,. recessive HG002 HG002 chr6:20262832:C:A 2,.,. 0.000468597 1 70 0.00210231 0 6 45,.,. 1,.,. dominant HG002 HG002 chr6:20273881:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr6:20444814:T:C 1,.,. -1 -1 -1 -1 -1 -1 E2F3 50_intron 32,.,. 0.46875,.,. E2F3/intron/ 0.9996 0.2180 0.3930 0 dominant HG002 HG002 chr6:20482597:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 E2F3 50_intron 32,.,. 0.46875,.,. E2F3/intron/ 0.9996 0.2180 0.3930 0 dominant HG002 HG002 chr6:21232013:T:G 1,.,. 6.85655e-06 0 1 -1 -1 -1 CDKAL1 36_3_prime_utr 40,.,. 0.5,.,. CDKAL1/3_prime_utr/ENST00000274695;CDKAL1/3_prime_utr/ENST00000378610 0.4833 0.3887 0.6430 2 dominant HG002 HG002 chr6:21332269:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.62069,.,. dominant HG002 HG002 chr6:21332272:G:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.62069,.,. dominant HG002 HG002 chr6:21792590:T:TTTCC 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr6:21909772:G:GGTTGTT 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.761905,.,. dominant HG002 HG002 chr6:22088024:ATT:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr6:22088028:T:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr6:22088029:A:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. recessive HG002 HG002 chr6:22185219:T:G 2,.,. 0.000821818 1 27 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr6:22627498:A:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr6:23119949:T:TTTA 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr6:23250303:T:TAC 1,.,. 6.6093e-06 0 1 -1 -1 -1 56,.,. 0.517857,.,. dominant HG002 HG002 chr6:23250304:C:T 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.517857,.,. dominant HG002 HG002 chr6:23389021:A:ATAAAAATATATAT 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr6:23427176:C:CAT 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.377778,.,. recessive HG002 HG002 chr6:23471176:C:T 2,.,. 0.000422597 0 25 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr6:23471178:A:ATTCTAC 2,.,. 0.000335597 0 51 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr6:23507798:G:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr6:23623461:G:GAGGAAGGAAGGA 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.541667,.,. recessive HG002 HG002 chr6:23766875:CAGACAG:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr6:23766882:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. dominant HG002 HG002 chr6:23813964:A:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.52381,.,. dominant HG002 HG002 chr6:24179504:C:T 1,.,. -1 -1 -1 0.000700771 0 2 DCDC2 50_intron 51,.,. 0.54902,.,. DCDC2/intron/ 0.0000 0.7942 1.0620 5 Autosomal recessive nonsyndromic hearing loss 66;Nephronophthisis 19;Isolated neonatal sclerosing cholangitis 0.000 dominant HG002 HG002 chr6:24305816:T:C 1,.,. 6.58016e-06 0 1 -1 -1 -1 DCDC2 50_intron 46,.,. 0.347826,.,. DCDC2/intron/ 0.0000 0.7942 1.0620 5 Autosomal recessive nonsyndromic hearing loss 66;Nephronophthisis 19;Isolated neonatal sclerosing cholangitis 0.000 dominant HG002 HG002 chr6:24960114:T:A 1,.,. -1 -1 -1 -1 -1 -1 RIPOR2 50_intron 45,.,. 0.444444,.,. RIPOR2/intron/ 0.9406 0.3738 0.5020 1 Autosomal dominant nonsyndromic hearing loss 21;Autosomal recessive nonsyndromic hearing loss 104 0.000 dominant HG002 HG002 chr6:25181120:A:T 1,.,. -1 -1 -1 -1 -1 -1 CMAHP 53_non_coding 31,.,. 0.612903,.,. CMAHP/non_coding/ dominant HG002 HG002 chr6:25267450:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 CMAHP 53_non_coding 29,.,. 0.413793,.,. CMAHP/non_coding/ dominant HG002 HG002 chr6:25338262:A:AATAAAATAAAAT 1,.,. -1 -1 -1 -1 -1 -1 CMAHP;CARMIL1 50_intron 34,.,. 0.529412,.,. CMAHP/non_coding/;CARMIL1/intron/ 0.0000 0.4818 0.6060 2 recessive HG002 HG002 chr6:25724893:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr6:25733796:GTGTGTGTGTA:G 1,.,. 9.34981e-06 0 1 -1 -1 -1 29,.,. 0.275862,.,. recessive HG002 HG002 chr6:25897782:G:GGT 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr6:25897785:G:C 2,.,. 2.83479e-05 0 3 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr6:25954556:C:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr6:26095516:T:A 1,.,. -1 -1 -1 -1 -1 -1 HFE 36_3_prime_utr 37,.,. 0.486486,.,. HFE/3_prime_utr/ENST00000357618 0.0000 0.7788 1.0370 5 Hemochromatosis type 1 0.000 dominant HG002 HG002 chr6:26095517:G:T 1,.,. -1 -1 -1 -1 -1 -1 HFE 36_3_prime_utr 33,.,. 0.545455,.,. HFE/3_prime_utr/ENST00000357618 0.0000 0.7788 1.0370 5 Hemochromatosis type 1 0.000 dominant HG002 HG002 chr6:26095518:A:G 1,.,. -1 -1 -1 -1 -1 -1 HFE 36_3_prime_utr 34,.,. 0.529412,.,. HFE/3_prime_utr/ENST00000357618 0.0000 0.7788 1.0370 5 Hemochromatosis type 1 0.000 dominant HG002 HG002 chr6:26136703:T:TCCTTCCTTCCTTCCTTCCTTCCTTCCTC 1,.,. -1 -1 -1 0.00140154 0 4 H2AC6 50_intron 29,.,. 0.344828,.,. H2AC6/intron/ 0.0335 0.6883 1.4300 7 dominant HG002 HG002 chr6:26352242:A:G 1,.,. 6.57091e-06 0 1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr6:26829060:A:C 1,.,. -1 -1 -1 0.00105116 0 3 43,.,. 0.511628,.,. recessive HG002 HG002 chr6:26857734:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr6:26857735:T:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr6:26857736:C:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr6:26983146:A:G 2,.,. 0.000359984 2 42 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr6:27100682:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr6:27187541:G:GTACCT 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr6:27187542:C:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr6:27194700:A:AG 1,.,. 6.56987e-06 0 1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr6:27258308:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr6:28563470:G:A 1,.,. 1.31699e-05 0 2 -1 -1 -1 48,.,. 0.5625,.,. dominant HG002 HG002 chr6:28620163:T:G 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.392857,.,. dominant HG002 HG002 chr6:28798799:ATATGGAGTATATATG:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.323529,.,. dominant HG002 HG002 chr6:28881953:G:A 1,.,. -1 -1 -1 0.000700771 0 2 28,.,. 0.428571,.,. dominant HG002 HG002 chr6:28929646:C:T 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.555556,.,. dominant HG002 HG002 chr6:28930238:G:C 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.333333,.,. recessive HG002 HG002 chr6:29193502:A:C 2,.,. 6.06559e-05 0 9 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr6:29341245:T:TTTG 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.285714,.,. dominant HG002 HG002 chr6:29703840:ATATCCATCCATC:A 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.5,.,. recessive HG002 HG002 chr6:29822557:A:ATT 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr6:29882600:T:TTACTAAAGTAAAATAAA 2,.,. -1 -1 -1 -1 -1 -1 AL645929.2 53_non_coding 33,.,. 1,.,. AL645929.2/non_coding/ dominant HG002 HG002 chr6:29888085:A:G 1,.,. -1 -1 -1 -1 -1 -1 AL645929.1 53_non_coding 44,.,. 0.409091,.,. AL645929.1/non_coding/ dominant HG002 HG002 chr6:29888086:G:A 1,.,. -1 -1 -1 -1 -1 -1 AL645929.1 53_non_coding 44,.,. 0.409091,.,. AL645929.1/non_coding/ dominant HG002 HG002 chr6:29888087:A:T 1,.,. -1 -1 -1 -1 -1 -1 AL645929.1 53_non_coding 44,.,. 0.409091,.,. AL645929.1/non_coding/ dominant HG002 HG002 chr6:29953723:AAACAAACAAACAAACAAAC:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr6:29973574:G:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.387097,.,. dominant HG002 HG002 chr6:30050741:G:GCACACA 1,.,. -1 -1 -1 -1 -1 -1 ZNRD1ASP 53_non_coding 42,.,. 0.452381,.,. ZNRD1ASP/non_coding/ dominant HG002 HG002 chr6:30099094:A:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. recessive HG002 HG002 chr6:30495432:A:G 2,.,. 6.7595e-05 0 1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr6:30495434:A:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr6:30697905:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.321429,.,. recessive HG002 HG002 chr6:30789988:T:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chr6:30806911:CAGTA:C 1,.,. 1.97392e-05 0 3 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr6:30806916:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr6:30852820:T:TTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC 1,.,. -1 -1 -1 0.00105116 0 3 33,.,. 0.30303,.,. dominant HG002 HG002 chr6:31021017:CTTCTGTGCGGCCGGAG:C 1,.,. -1 -1 -1 -1 -1 -1 MUC22 50_intron 26,.,. 0.653846,.,. MUC22/intron/ 0.0001 0.5936 0.8410 3 dominant HG002 HG002 chr6:31021034:C:A 1,.,. -1 -1 -1 -1 -1 -1 MUC22 50_intron 26,.,. 0.653846,.,. MUC22/intron/ 0.0001 0.5936 0.8410 3 dominant HG002 HG002 chr6:31140628:AACATAT:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.461538,.,. dominant HG002 HG002 chr6:31193123:TTTTTA:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.384615,.,. dominant HG002 HG002 chr6:31206208:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr6:31268823:C:T 1,.,. -1 -1 -1 -1 -1 -1 HLA-C 36_3_prime_utr 22,.,. 0.5,.,. HLA-C/3_prime_utr&NMD_transcript/ENST00000376237;HLA-C/3_prime_utr/ENST00000376228;HLA-C/3_prime_utr/ENST00000383329 0.0040 3.1207 1.9660 9 Psoriasis 1, susceptibility to;Susceptibility to HIV infection 0.000 dominant HG002 HG002 chr6:31268824:T:C 1,.,. 9.34999e-06 0 1 -1 -1 -1 HLA-C 36_3_prime_utr 22,.,. 0.5,.,. HLA-C/3_prime_utr&NMD_transcript/ENST00000376237;HLA-C/3_prime_utr/ENST00000376228;HLA-C/3_prime_utr/ENST00000383329 0.0040 3.1207 1.9660 9 Psoriasis 1, susceptibility to;Susceptibility to HIV infection 0.000 dominant HG002 HG002 chr6:31329668:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 HLA-B 50_intron 31,.,. 0.516129,.,. HLA-B/intron/ 0.0001 1.2315 1.8530 9 Susceptibility to severe cutaneous adverse reaction;Spondyloarthropathy, susceptibility to, 1;Carbamazepine hypersensitivity;Carbamazepine response;Abacavir hypersensitivity;Allopurinol response 0.000 dominant HG002 HG002 chr6:31330402:G:A 1,.,. 1.23101e-05 0 1 -1 -1 -1 HLA-B 50_intron 32,.,. 0.53125,.,. HLA-B/intron/ 0.0001 1.2315 1.8530 9 Susceptibility to severe cutaneous adverse reaction;Spondyloarthropathy, susceptibility to, 1;Carbamazepine hypersensitivity;Carbamazepine response;Abacavir hypersensitivity;Allopurinol response 0.000 recessive HG002 HG002 chr6:31331275:AAAG:A 2,.,. -1 -1 -1 -1 -1 -1 HLA-B 50_intron 33,.,. 1,.,. HLA-B/intron/ 0.0001 1.2315 1.8530 9 Susceptibility to severe cutaneous adverse reaction;Spondyloarthropathy, susceptibility to, 1;Carbamazepine hypersensitivity;Carbamazepine response;Abacavir hypersensitivity;Allopurinol response 0.000 recessive HG002 HG002 chr6:31331280:T:G 2,.,. -1 -1 -1 -1 -1 -1 HLA-B 50_intron 33,.,. 1,.,. HLA-B/intron/ 0.0001 1.2315 1.8530 9 Susceptibility to severe cutaneous adverse reaction;Spondyloarthropathy, susceptibility to, 1;Carbamazepine hypersensitivity;Carbamazepine response;Abacavir hypersensitivity;Allopurinol response 0.000 dominant HG002 HG002 chr6:31342259:A:T 1,.,. -1 -1 -1 -1 -1 -1 HLA-B 50_intron 26,.,. 0.5,.,. HLA-B/intron/ 0.0001 1.2315 1.8530 9 Susceptibility to severe cutaneous adverse reaction;Spondyloarthropathy, susceptibility to, 1;Carbamazepine hypersensitivity;Carbamazepine response;Abacavir hypersensitivity;Allopurinol response 0.000 dominant HG002 HG002 chr6:31356825:T:G 1,.,. -1 -1 -1 -1 -1 -1 HLA-B 14_missense 34,.,. 0.470588,.,. HLA-B/missense/ENST00000434333;HLA-B/missense/ENST00000412585;HLA-B/missense/ENST00000639848 0.0001 1.2315 1.8530 9 Susceptibility to severe cutaneous adverse reaction;Spondyloarthropathy, susceptibility to, 1;Carbamazepine hypersensitivity;Carbamazepine response;Abacavir hypersensitivity;Allopurinol response 0.000 dominant HG002 HG002 chr6:31363428:G:GGTTT 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr6:31381624:AAGGT:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. recessive HG002 HG002 chr6:31399554:A:C 2,.,. 7.81708e-05 0 4 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr6:31410448:G:GCCT 1,.,. -1 -1 -1 -1 -1 -1 MICA 50_intron 21,.,. 0.47619,.,. MICA/intron/;MICA/non_coding/ 0.0032 0.5271 0.7820 3 dominant HG002 HG002 chr6:31442347:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr6:31585374:AAAC:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.423077,.,. dominant HG002 HG002 chr6:31721717:G:T 1,.,. -1 -1 -1 -1 -1 -1 LY6G6C 35_5_prime_utr 30,.,. 0.6,.,. LY6G6C/5_prime_utr/ENST00000375819 0.0001 0.9102 1.4700 8 recessive HG002 HG002 chr6:32322917:T:TATGAAA 2,.,. -1 -1 -1 -1 -1 -1 TSBP1 50_intron 48,.,. 1,.,. TSBP1/intron/ 0.0000 0.7264 1.0660 5 recessive HG002 HG002 chr6:32322919:G:A 2,.,. -1 -1 -1 -1 -1 -1 TSBP1 50_intron 48,.,. 1,.,. TSBP1/intron/ 0.0000 0.7264 1.0660 5 dominant HG002 HG002 chr6:32405821:T:G 1,.,. 2.05249e-05 0 3 -1 -1 -1 BTNL2 50_intron 36,.,. 0.444444,.,. BTNL2/intron/ 0.0000 0.9857 1.2600 7 Sarcoidosis, susceptibility to, 2 0.000 recessive HG002 HG002 chr6:32411539:G:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr6:32411540:A:ACCAGAGAGCCAGAG 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr6:32475183:T:TTTG 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr6:32491439:C:A 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.44,.,. recessive HG002 HG002 chr6:32512659:A:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr6:32512714:C:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr6:32512716:A:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr6:32512719:A:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr6:32528660:T:C 2,.,. -1 -1 -1 -1 -1 -1 HLA-DRB5 50_intron 22,.,. 1,.,. HLA-DRB5/intron/ 0.0029 1.1494 1.8600 9 dominant HG002 HG002 chr6:32545687:C:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr6:32545695:AAAAAAAAAG:A 1,.,. 8.95432e-06 0 1 -1 -1 -1 40,.,. 0.475,.,. recessive HG002 HG002 chr6:32579418:T:C 2,.,. 2.38299e-05 0 1 -1 -1 -1 HLA-DRB1 50_intron 19,.,. 1,.,. HLA-DRB1/intron/ 0.0023 1.2485 1.8910 9 Sarcoidosis, susceptibility to, 1 0.000 recessive HG002 HG002 chr6:32579419:G:A 2,.,. -1 -1 -1 -1 -1 -1 HLA-DRB1 50_intron 19,.,. 1,.,. HLA-DRB1/intron/ 0.0023 1.2485 1.8910 9 Sarcoidosis, susceptibility to, 1 0.000 recessive HG002 HG002 chr6:32579421:A:G 2,.,. -1 -1 -1 -1 -1 -1 HLA-DRB1 50_intron 19,.,. 1,.,. HLA-DRB1/intron/ 0.0023 1.2485 1.8910 9 Sarcoidosis, susceptibility to, 1 0.000 recessive HG002 HG002 chr6:32579581:C:T 2,.,. -1 -1 -1 -1 -1 -1 HLA-DRB1 50_intron 19,.,. 1,.,. HLA-DRB1/intron/ 0.0023 1.2485 1.8910 9 Sarcoidosis, susceptibility to, 1 0.000 recessive HG002 HG002 chr6:32602191:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. dominant HG002 HG002 chr6:32602243:C:T 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.421053,.,. recessive HG002 HG002 chr6:32602895:C:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr6:32602896:GAGAAATGAATCTCA:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr6:32603945:A:AAATGGTT 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr6:32603947:T:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr6:32605571:G:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. dominant HG002 HG002 chr6:32606455:G:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.489796,.,. dominant HG002 HG002 chr6:32609312:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr6:32613905:A:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.531915,.,. dominant HG002 HG002 chr6:32617159:G:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr6:32629381:T:A 1,.,. -1 -1 -1 -1 -1 -1 HLA-DQA1 50_intron 40,.,. 0.7,.,. HLA-DQA1/intron/ 0.0006 2.1887 1.9630 9 Celiac disease, susceptibility to, 1 0.000 dominant HG002 HG002 chr6:32629422:TTAGA:T 1,.,. -1 -1 -1 -1 -1 -1 HLA-DQA1 50_intron 41,.,. 0.707317,.,. HLA-DQA1/intron/ 0.0006 2.1887 1.9630 9 Celiac disease, susceptibility to, 1 0.000 dominant HG002 HG002 chr6:32629429:A:C 1,.,. 7.39609e-05 0 3 -1 -1 -1 HLA-DQA1 50_intron 41,.,. 0.707317,.,. HLA-DQA1/intron/ 0.0006 2.1887 1.9630 9 Celiac disease, susceptibility to, 1 0.000 dominant HG002 HG002 chr6:32629723:C:T 1,.,. -1 -1 -1 -1 -1 -1 HLA-DQA1 50_intron 41,.,. 0.658537,.,. HLA-DQA1/intron/ 0.0006 2.1887 1.9630 9 Celiac disease, susceptibility to, 1 0.000 dominant HG002 HG002 chr6:32664082:T:C 1,.,. -1 -1 -1 -1 -1 -1 HLA-DQB1 50_intron 34,.,. 0.441176,.,. HLA-DQB1/intron/;HLA-DQB1/non_coding/ 0.0084 1.0515 1.8340 9 Celiac disease, susceptibility to, 1;Inherited Creutzfeldt-Jakob disease 0.000 dominant HG002 HG002 chr6:32665113:C:G 1,.,. -1 -1 -1 -1 -1 -1 HLA-DQB1 50_intron 30,.,. 0.533333,.,. HLA-DQB1/intron/;HLA-DQB1/non_coding/ 0.0084 1.0515 1.8340 9 Celiac disease, susceptibility to, 1;Inherited Creutzfeldt-Jakob disease 0.000 dominant HG002 HG002 chr6:32665729:A:G 1,.,. -1 -1 -1 -1 -1 -1 HLA-DQB1 50_intron 29,.,. 0.517241,.,. HLA-DQB1/intron/;HLA-DQB1/non_coding/ 0.0084 1.0515 1.8340 9 Celiac disease, susceptibility to, 1;Inherited Creutzfeldt-Jakob disease 0.000 dominant HG002 HG002 chr6:32677189:CTGTT:C 1,.,. 1.3832e-05 0 1 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr6:32677197:T:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. recessive HG002 HG002 chr6:32694153:T:G 2,.,. -1 -1 -1 0.00770848 0 22 36,.,. 1,.,. recessive HG002 HG002 chr6:32694154:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr6:32694156:T:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr6:32701782:T:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr6:32702397:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr6:32702398:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr6:32719703:G:A 1,.,. 1.6442e-05 0 1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr6:32732382:G:GTA 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr6:32732383:A:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr6:32782638:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr6:32782641:A:C 1,.,. 1.97472e-05 0 3 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr6:32828676:C:CCTCCACCCCA 1,.,. 2.3218e-05 0 2 -1 -1 -1 TAP2 36_3_prime_utr 32,.,. 0.59375,.,. TAP2/3_prime_utr/ENST00000620123;TAP2/3_prime_utr/ENST00000374897 0.0000 0.6654 0.8420 3 MHC class I deficiency 2 0.000 dominant HG002 HG002 chr6:32828679:C:A 1,.,. -1 -1 -1 -1 -1 -1 TAP2 36_3_prime_utr 34,.,. 0.588235,.,. TAP2/3_prime_utr/ENST00000620123;TAP2/3_prime_utr/ENST00000374897 0.0000 0.6654 0.8420 3 MHC class I deficiency 2 0.000 dominant HG002 HG002 chr6:32873316:A:ATTAT 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr6:32876152:A:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr6:32975281:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 BRD2 50_intron 37,.,. 0.459459,.,. BRD2/intron/ 1.0000 0.1818 0.2800 0 dominant HG002 HG002 chr6:33116305:A:AAGGG 1,.,. -1 -1 -1 -1 -1 -1 HLA-DPB2 53_non_coding 46,.,. 0.652174,.,. HLA-DPB2/non_coding/ dominant HG002 HG002 chr6:33127190:ATCAT:A 1,.,. -1 -1 -1 -1 -1 -1 HLA-DPB2 53_non_coding 34,.,. 0.647059,.,. HLA-DPB2/non_coding/ dominant HG002 HG002 chr6:33127195:T:C 1,.,. -1 -1 -1 -1 -1 -1 HLA-DPB2 53_non_coding 34,.,. 0.647059,.,. HLA-DPB2/non_coding/ dominant HG002 HG002 chr6:33135699:A:T 1,.,. -1 -1 -1 0.00140154 1 4 HLA-DPA3 53_non_coding 35,.,. 0.428571,.,. HLA-DPA3/non_coding/ dominant HG002 HG002 chr6:33135700:T:A 1,.,. -1 -1 -1 0.000700771 0 2 HLA-DPA3 53_non_coding 35,.,. 0.428571,.,. HLA-DPA3/non_coding/ dominant HG002 HG002 chr6:33138054:A:AAAAG 1,.,. -1 -1 -1 -1 -1 -1 HLA-DPA3 53_non_coding 34,.,. 0.5,.,. HLA-DPA3/non_coding/ dominant HG002 HG002 chr6:33823921:C:T 1,.,. 6.56944e-06 0 1 -1 -1 -1 27,.,. 0.481481,.,. dominant HG002 HG002 chr6:34156958:TCCTTCACCTGGGTG:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr6:34156973:C:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. recessive HG002 HG002 chr6:34276036:GAAT:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr6:34614501:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 ILRUN 50_intron 29,.,. 0.413793,.,. ILRUN/intron/ 1.0000 0.0597 0.1880 0 dominant HG002 HG002 chr6:34733341:A:C 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.333333,.,. dominant HG002 HG002 chr6:34733399:GTAAACCCAGCT:G 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.384615,.,. dominant HG002 HG002 chr6:34733412:C:G 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.384615,.,. dominant HG002 HG002 chr6:34733414:C:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.384615,.,. dominant HG002 HG002 chr6:34785774:G:GTCTCCC 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.423077,.,. dominant HG002 HG002 chr6:35250724:TTTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 SCUBE3 36_3_prime_utr 31,.,. 0.354839,.,. SCUBE3/3_prime_utr/ENST00000274938 1.0000 0.2966 0.4020 1 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 0.000 dominant HG002 HG002 chr6:35270845:C:G 1,.,. -1 -1 -1 -1 -1 -1 ZNF76 50_intron 39,.,. 0.512821,.,. ZNF76/non_coding/;ZNF76/intron/ 0.0000 0.9737 1.1970 6 dominant HG002 HG002 chr6:35554651:C:CAGAGTG 1,.,. 0.00052687 0 2 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr6:35554654:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr6:35769784:G:C 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.5,.,. dominant HG002 HG002 chr6:36017210:G:GAAGGAGAAA 1,.,. -1 -1 -1 -1 -1 -1 SLC26A8 50_intron 42,.,. 0.404762,.,. SLC26A8/intron/;SLC26A8/non_coding/ 0.0000 0.6394 0.7870 3 Spermatogenic failure 3 0.000 dominant HG002 HG002 chr6:36124117:C:CCT 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.375,.,. dominant HG002 HG002 chr6:36352888:G:A 1,.,. 6.57091e-06 0 1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr6:36673427:A:C 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.304348,.,. dominant HG002 HG002 chr6:36673428:AAATTCAAAAATTAGCCAGTCAT:A 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.304348,.,. dominant HG002 HG002 chr6:36673453:T:A 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.304348,.,. dominant HG002 HG002 chr6:36673454:TG:T 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.304348,.,. dominant HG002 HG002 chr6:37060614:C:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.6,.,. recessive HG002 HG002 chr6:37348713:A:G 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. dominant HG002 HG002 chr6:37386219:A:G 1,.,. 6.78619e-06 0 1 -1 -1 -1 RNF8 50_intron 31,.,. 0.451613,.,. RNF8/intron/ 1.0000 0.1124 0.2220 0 dominant HG002 HG002 chr6:37481733:G:C 1,.,. -1 -1 -1 -1 -1 -1 CMTR1 50_intron 24,.,. 0.416667,.,. CMTR1/intron/ 0.9999 0.3241 0.4370 1 dominant HG002 HG002 chr6:37651615:T:C 1,.,. 4.9965e-05 0 1 -1 -1 -1 MDGA1 50_intron 26,.,. 0.461538,.,. MDGA1/intron/;MDGA1/non_coding/ 0.0000 0.6103 0.7670 3 dominant HG002 HG002 chr6:37651616:TCTA:T 1,.,. 0.00015 0 3 -1 -1 -1 MDGA1 50_intron 26,.,. 0.461538,.,. MDGA1/intron/;MDGA1/non_coding/ 0.0000 0.6103 0.7670 3 dominant HG002 HG002 chr6:38722573:G:GGTGT 1,.,. -1 -1 -1 -1 -1 -1 DNAH8 50_intron 34,.,. 0.441176,.,. DNAH8/intron/ 0.0000 0.6189 0.6920 2 Spermatogenic failure 46 0.000 dominant HG002 HG002 chr6:38930418:A:T 1,.,. 7.86584e-06 0 1 -1 -1 -1 DNAH8 50_intron 26,.,. 0.538462,.,. DNAH8/intron/ 0.0000 0.6189 0.6920 2 Spermatogenic failure 46 0.000 dominant HG002 HG002 chr6:38930421:A:ATTTAAT 1,.,. -1 -1 -1 -1 -1 -1 DNAH8 50_intron 26,.,. 0.538462,.,. DNAH8/intron/ 0.0000 0.6189 0.6920 2 Spermatogenic failure 46 0.000 recessive HG002 HG002 chr6:39069574:A:C 2,.,. -1 -1 -1 -1 -1 -1 GLP1R 50_intron 28,.,. 1,.,. GLP1R/intron/ 0.9858 0.3107 0.4940 1 dominant HG002 HG002 chr6:39706505:C:T 1,.,. -1 -1 -1 -1 -1 -1 KIF6 50_intron 40,.,. 0.525,.,. KIF6/intron/;KIF6/non_coding/ 0.0000 0.9023 1.1320 6 dominant HG002 HG002 chr6:40233536:T:TTTTGTTTG 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.307692,.,. dominant HG002 HG002 chr6:40526407:C:T 1,.,. -1 -1 -1 -1 -1 -1 LRFN2 50_intron 34,.,. 0.588235,.,. LRFN2/intron/ 0.0104 0.4929 0.7310 2 dominant HG002 HG002 chr6:41323171:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr6:41323173:A:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.565217,.,. recessive HG002 HG002 chr6:41515443:TAGA:T 2,.,. 0.00259982 3 290 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr6:41515451:G:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr6:41766199:GAGAGAA:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr6:42064881:CGGGGGGCGGA:C 1,.,. -1 -1 -1 -1 -1 -1 TAF8 50_intron 31,.,. 0.451613,.,. TAF8/intron/ 0.0000 1.2691 1.6600 8 Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy 0.000 dominant HG002 HG002 chr6:42064894:T:C 1,.,. -1 -1 -1 -1 -1 -1 TAF8 50_intron 32,.,. 0.4375,.,. TAF8/intron/ 0.0000 1.2691 1.6600 8 Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy 0.000 dominant HG002 HG002 chr6:42064895:TG:T 1,.,. -1 -1 -1 -1 -1 -1 TAF8 50_intron 32,.,. 0.4375,.,. TAF8/intron/ 0.0000 1.2691 1.6600 8 Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy 0.000 dominant HG002 HG002 chr6:42186597:A:AAAAG 1,.,. -1 -1 -1 -1 -1 -1 GUCA1B 50_intron 28,.,. 0.428571,.,. GUCA1B/intron/ 0.0000 0.8107 1.2480 7 Retinitis pigmentosa 48 0.000 dominant HG002 HG002 chr6:42192053:A:G 1,.,. 9.25812e-05 0 3 -1 -1 -1 GUCA1B 50_intron 28,.,. 0.535714,.,. GUCA1B/intron/ 0.0000 0.8107 1.2480 7 Retinitis pigmentosa 48 0.000 dominant HG002 HG002 chr6:42524207:T:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr6:42631870:A:T 1,.,. -1 -1 -1 -1 -1 -1 UBR2 50_intron 41,.,. 0.317073,.,. UBR2/intron/ 0.9667 0.3895 0.4720 1 dominant HG002 HG002 chr6:43163571:G:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr6:43704426:G:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.47619,.,. dominant HG002 HG002 chr6:43819207:G:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.647059,.,. dominant HG002 HG002 chr6:43870576:C:T 1,.,. 8.91213e-05 0 3 -1 -1 -1 24,.,. 0.25,.,. dominant HG002 HG002 chr6:43870577:CTCTCTCCT:C 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.25,.,. dominant HG002 HG002 chr6:44181824:C:CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCACACA 1,.,. -1 -1 -1 -1 -1 -1 CAPN11 50_intron 31,.,. 0.451613,.,. CAPN11/intron/;CAPN11/non_coding/ 0.0000 1.0125 1.1940 6 dominant HG002 HG002 chr6:44182042:C:CACACTCACACACATACACACTCACATACAGACACAACCACACCCCACACACACACAT 1,.,. -1 -1 -1 0.000700771 0 2 CAPN11 50_intron 34,.,. 0.382353,.,. CAPN11/intron/;CAPN11/non_coding/ 0.0000 1.0125 1.1940 6 recessive HG002 HG002 chr6:44296936:G:T 2,.,. -1 -1 -1 -1 -1 -1 TMEM151B;AL353588.1 50_intron 33,.,. 1,.,. TMEM151B/intron/;AL353588.1/intron/ 0.0000 0.6849 0.9860 5 recessive HG002 HG002 chr6:44296938:C:G 2,.,. -1 -1 -1 -1 -1 -1 TMEM151B;AL353588.1 50_intron 35,.,. 1,.,. TMEM151B/intron/;AL353588.1/intron/ 0.0000 0.6849 0.9860 5 dominant HG002 HG002 chr6:44420831:G:C 1,.,. -1 -1 -1 -1 -1 -1 CDC5L 50_intron 36,.,. 0.444444,.,. CDC5L/intron/ 1.0000 0.1536 0.2600 0 dominant HG002 HG002 chr6:44652025:AGT:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.257143,.,. dominant HG002 HG002 chr6:44875309:C:G 1,.,. -1 -1 -1 0.000700771 0 2 SUPT3H 50_intron 43,.,. 0.465116,.,. SUPT3H/intron/ 0.0000 0.8949 1.3420 7 dominant HG002 HG002 chr6:44881244:G:GTC 1,.,. -1 -1 -1 -1 -1 -1 SUPT3H 50_intron 42,.,. 0.52381,.,. SUPT3H/intron/ 0.0000 0.8949 1.3420 7 dominant HG002 HG002 chr6:44881246:T:C 1,.,. -1 -1 -1 -1 -1 -1 SUPT3H 50_intron 42,.,. 0.52381,.,. SUPT3H/intron/ 0.0000 0.8949 1.3420 7 dominant HG002 HG002 chr6:45229138:TGA:T 1,.,. 1.31416e-05 0 2 -1 -1 -1 SUPT3H 50_intron 57,.,. 0.438596,.,. SUPT3H/intron/ 0.0000 0.8949 1.3420 7 dominant HG002 HG002 chr6:45469498:T:G 1,.,. 1.97068e-05 0 3 -1 -1 -1 RUNX2 50_intron 40,.,. 0.45,.,. RUNX2/intron/ 1.0000 0.2076 0.3520 0 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome;Cleidocranial dysostosis 0.000 dominant HG002 HG002 chr6:45477203:TCCTCTTCCTTG:T 1,.,. -1 -1 -1 -1 -1 -1 RUNX2 50_intron 32,.,. 0.375,.,. RUNX2/intron/ 1.0000 0.2076 0.3520 0 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome;Cleidocranial dysostosis 0.000 dominant HG002 HG002 chr6:45519041:G:A 1,.,. 1.97241e-05 0 3 -1 -1 -1 RUNX2 50_intron 45,.,. 0.466667,.,. RUNX2/intron/ 1.0000 0.2076 0.3520 0 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome;Cleidocranial dysostosis 0.000 dominant HG002 HG002 chr6:45680796:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr6:45749706:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr6:45765537:T:TTTTC 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.607143,.,. dominant HG002 HG002 chr6:45765537:T:TTTTCTTTCTTTC 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.388889,.,. dominant HG002 HG002 chr6:45986769:A:T 1,.,. -1 -1 -1 -1 -1 -1 CLIC5 50_intron 43,.,. 0.534884,.,. CLIC5/intron/ 0.0000 0.8312 1.2330 6 Autosomal recessive nonsyndromic hearing loss 103 0.000 dominant HG002 HG002 chr6:45986770:T:A 1,.,. -1 -1 -1 -1 -1 -1 CLIC5 50_intron 43,.,. 0.534884,.,. CLIC5/intron/ 0.0000 0.8312 1.2330 6 Autosomal recessive nonsyndromic hearing loss 103 0.000 dominant HG002 HG002 chr6:45986772:C:G 1,.,. -1 -1 -1 -1 -1 -1 CLIC5 50_intron 43,.,. 0.534884,.,. CLIC5/intron/ 0.0000 0.8312 1.2330 6 Autosomal recessive nonsyndromic hearing loss 103 0.000 dominant HG002 HG002 chr6:45986773:AATCTC:A 1,.,. -1 -1 -1 -1 -1 -1 CLIC5 50_intron 43,.,. 0.534884,.,. CLIC5/intron/ 0.0000 0.8312 1.2330 6 Autosomal recessive nonsyndromic hearing loss 103 0.000 dominant HG002 HG002 chr6:46060812:G:T 1,.,. 1.97233e-05 0 3 -1 -1 -1 CLIC5 50_intron 47,.,. 0.489362,.,. CLIC5/intron/ 0.0000 0.8312 1.2330 6 Autosomal recessive nonsyndromic hearing loss 103 0.000 dominant HG002 HG002 chr6:46444849:C:G 1,.,. 6.5722e-06 0 1 -1 -1 -1 RCAN2 50_intron 34,.,. 0.647059,.,. RCAN2/intron/ 0.5547 0.3756 0.6550 2 dominant HG002 HG002 chr6:46779472:A:G 1,.,. 1.55647e-05 0 2 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr6:47107193:C:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr6:47532949:TATTTTATAGCC:T 1,.,. -1 -1 -1 -1 -1 -1 CD2AP 50_intron 38,.,. 0.526316,.,. CD2AP/intron/ 0.0000 0.5941 0.8150 3 Focal segmental glomerulosclerosis 3, susceptibility to 0.000 dominant HG002 HG002 chr6:47605061:A:ATGAG 1,.,. -1 -1 -1 -1 -1 -1 CD2AP 50_intron 42,.,. 0.428571,.,. CD2AP/intron/ 0.0000 0.5941 0.8150 3 Focal segmental glomerulosclerosis 3, susceptibility to 0.000 dominant HG002 HG002 chr6:47605062:G:T 1,.,. -1 -1 -1 -1 -1 -1 CD2AP 50_intron 42,.,. 0.428571,.,. CD2AP/intron/ 0.0000 0.5941 0.8150 3 Focal segmental glomerulosclerosis 3, susceptibility to 0.000 dominant HG002 HG002 chr6:47607130:A:T 1,.,. -1 -1 -1 -1 -1 -1 CD2AP 50_intron 42,.,. 0.404762,.,. CD2AP/intron/ 0.0000 0.5941 0.8150 3 Focal segmental glomerulosclerosis 3, susceptibility to 0.000 dominant HG002 HG002 chr6:47607132:G:T 1,.,. -1 -1 -1 -1 -1 -1 CD2AP 50_intron 41,.,. 0.414634,.,. CD2AP/intron/ 0.0000 0.5941 0.8150 3 Focal segmental glomerulosclerosis 3, susceptibility to 0.000 dominant HG002 HG002 chr6:47607134:T:G 1,.,. -1 -1 -1 -1 -1 -1 CD2AP 50_intron 42,.,. 0.404762,.,. CD2AP/intron/ 0.0000 0.5941 0.8150 3 Focal segmental glomerulosclerosis 3, susceptibility to 0.000 recessive HG002 HG002 chr6:47693513:GGA:G 2,.,. -1 -1 -1 -1 -1 -1 ADGRF2 50_intron 19,.,. 1,.,. ADGRF2/intron/ dominant HG002 HG002 chr6:47746197:AAT:A 1,.,. -1 -1 -1 0.00140154 0 4 46,.,. 0.478261,.,. dominant HG002 HG002 chr6:47864924:T:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr6:47864925:TATGGTAGAATA:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr6:48706679:C:T 1,.,. 6.5838e-06 0 1 -1 -1 -1 36,.,. 0.611111,.,. dominant HG002 HG002 chr6:48867919:GATAAGTA:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.54902,.,. dominant HG002 HG002 chr6:48867928:A:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.54902,.,. dominant HG002 HG002 chr6:48917674:T:TGATAGATAGGTA 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr6:49020573:GTGTGTGTGTGTATA:G 1,.,. 6.23701e-05 0 3 -1 -1 -1 64,.,. 0.53125,.,. dominant HG002 HG002 chr6:49072993:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr6:49072997:A:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.380952,.,. dominant HG002 HG002 chr6:49256146:T:TTGTTTGTTTGTTTG 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr6:49332209:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr6:50313660:T:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr6:50411214:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.581395,.,. dominant HG002 HG002 chr6:50508076:TCTGTACTG:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr6:50508085:C:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr6:50894064:C:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.519231,.,. dominant HG002 HG002 chr6:50955404:ATTTATT:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr6:50955416:T:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr6:50955417:C:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr6:51171294:C:CAAAGTT 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.609756,.,. dominant HG002 HG002 chr6:51171295:T:A 1,.,. 6.61087e-06 0 1 -1 -1 -1 41,.,. 0.585366,.,. dominant HG002 HG002 chr6:52623620:C:CACACAA 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.357143,.,. dominant HG002 HG002 chr6:52849812:C:T 1,.,. -1 -1 -1 -1 -1 -1 GSTA11P 53_non_coding 49,.,. 0.510204,.,. GSTA11P/non_coding/ recessive HG002 HG002 chr6:53173145:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr6:53173148:TGAG:T 2,.,. 0.000533998 0 9 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr6:53193416:C:T 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.647059,.,. dominant HG002 HG002 chr6:53276588:C:T 1,.,. -1 -1 -1 -1 -1 -1 ELOVL5 50_intron 52,.,. 0.403846,.,. ELOVL5/intron/;ELOVL5/non_coding/ 0.9990 0.2156 0.4050 1 Spinocerebellar ataxia type 38 0.000 dominant HG002 HG002 chr6:53281274:C:G 1,.,. -1 -1 -1 -1 -1 -1 ELOVL5 50_intron 47,.,. 0.659574,.,. ELOVL5/intron/;ELOVL5/non_coding/ 0.9990 0.2156 0.4050 1 Spinocerebellar ataxia type 38 0.000 dominant HG002 HG002 chr6:53742315:C:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. recessive HG002 HG002 chr6:53830944:A:ATAG 2,.,. -1 -1 -1 -1 -1 -1 LRRC1 50_intron 56,.,. 1,.,. LRRC1/intron/ 0.2364 0.4177 0.6430 2 dominant HG002 HG002 chr6:54023171:AAT:A 1,.,. -1 -1 -1 -1 -1 -1 MLIP 50_intron 58,.,. 0.568965,.,. MLIP/intron/ 0.0000 0.8822 1.1000 5 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0.000 recessive HG002 HG002 chr6:54069960:T:G 2,.,. -1 -1 -1 -1 -1 -1 MLIP 50_intron 29,.,. 1,.,. MLIP/intron/ 0.0000 0.8822 1.1000 5 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0.000 recessive HG002 HG002 chr6:54069961:C:A 2,.,. -1 -1 -1 -1 -1 -1 MLIP 50_intron 28,.,. 1,.,. MLIP/intron/ 0.0000 0.8822 1.1000 5 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0.000 recessive HG002 HG002 chr6:54069965:A:T 2,.,. -1 -1 -1 -1 -1 -1 MLIP 50_intron 29,.,. 1,.,. MLIP/intron/ 0.0000 0.8822 1.1000 5 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0.000 recessive HG002 HG002 chr6:54069969:AT:A 2,.,. -1 -1 -1 -1 -1 -1 MLIP 50_intron 29,.,. 1,.,. MLIP/intron/ 0.0000 0.8822 1.1000 5 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0.000 recessive HG002 HG002 chr6:54069979:G:A 2,.,. -1 -1 -1 -1 -1 -1 MLIP 50_intron 29,.,. 1,.,. MLIP/intron/ 0.0000 0.8822 1.1000 5 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0.000 recessive HG002 HG002 chr6:54069980:C:T 2,.,. -1 -1 -1 -1 -1 -1 MLIP 50_intron 29,.,. 1,.,. MLIP/intron/ 0.0000 0.8822 1.1000 5 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0.000 recessive HG002 HG002 chr6:54069983:A:AG 2,.,. -1 -1 -1 -1 -1 -1 MLIP 50_intron 29,.,. 1,.,. MLIP/intron/ 0.0000 0.8822 1.1000 5 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0.000 recessive HG002 HG002 chr6:54069988:A:G 2,.,. -1 -1 -1 -1 -1 -1 MLIP 50_intron 28,.,. 1,.,. MLIP/intron/ 0.0000 0.8822 1.1000 5 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0.000 recessive HG002 HG002 chr6:54069993:C:G 2,.,. -1 -1 -1 -1 -1 -1 MLIP 50_intron 29,.,. 1,.,. MLIP/intron/ 0.0000 0.8822 1.1000 5 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0.000 recessive HG002 HG002 chr6:54069997:T:A 2,.,. -1 -1 -1 -1 -1 -1 MLIP 50_intron 28,.,. 1,.,. MLIP/intron/ 0.0000 0.8822 1.1000 5 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0.000 recessive HG002 HG002 chr6:54070009:T:C 2,.,. -1 -1 -1 -1 -1 -1 MLIP 50_intron 29,.,. 1,.,. MLIP/intron/ 0.0000 0.8822 1.1000 5 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0.000 recessive HG002 HG002 chr6:54070010:T:C 2,.,. -1 -1 -1 -1 -1 -1 MLIP 50_intron 29,.,. 1,.,. MLIP/intron/ 0.0000 0.8822 1.1000 5 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0.000 dominant HG002 HG002 chr6:54194198:GCGGT:G 1,.,. -1 -1 -1 -1 -1 -1 MLIP 50_intron 44,.,. 0.545455,.,. MLIP/intron/;MLIP/non_coding/ 0.0000 0.8822 1.1000 5 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0.000 dominant HG002 HG002 chr6:54369041:GAC:G 1,.,. -1 -1 -1 -1 -1 -1 TINAG 50_intron 51,.,. 0.568627,.,. TINAG/intron/ 0.0000 1.1028 1.3620 7 recessive HG002 HG002 chr6:54730488:G:GAC 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr6:54730490:A:G 2,.,. 1.31914e-05 0 2 -1 -1 -1 51,.,. 1,.,. dominant HG002 HG002 chr6:55110642:A:T 1,.,. 6.57713e-06 0 1 -1 -1 -1 HCRTR2 50_intron 38,.,. 0.605263,.,. HCRTR2/intron/ 0.5291 0.3896 0.6000 2 dominant HG002 HG002 chr6:55233649:C:G 1,.,. 6.5773e-06 0 1 -1 -1 -1 HCRTR2 50_intron 46,.,. 0.478261,.,. HCRTR2/intron/ 0.5291 0.3896 0.6000 2 recessive HG002 HG002 chr6:55284741:TTTAAGGCA:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr6:55284750:C:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. dominant HG002 HG002 chr6:55681734:T:G 1,.,. 6.56909e-06 0 1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr6:55766400:C:T 1,.,. 1.97402e-05 0 3 -1 -1 -1 BMP5 50_intron 47,.,. 0.404255,.,. BMP5/intron/ 0.0035 0.4980 0.7110 2 dominant HG002 HG002 chr6:55978275:A:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr6:56181678:C:T 1,.,. -1 -1 -1 -1 -1 -1 COL21A1 50_intron 49,.,. 0.489796,.,. COL21A1/intron/ 0.0000 1.1156 1.3390 7 dominant HG002 HG002 chr6:57553295:G:A 1,.,. -1 -1 -1 -1 -1 -1 PRIM2 50_intron 58,.,. 0.5,.,. PRIM2/intron/ 0.0007 0.6091 0.9250 4 dominant HG002 HG002 chr6:57871117:G:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. recessive HG002 HG002 chr6:58202499:ATGCC:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr6:58322564:C:A 2,.,. 0.000415471 0 22 0.000700771 0 2 39,.,. 1,.,. recessive HG002 HG002 chr6:58698516:T:C 2,.,. -1 -1 -1 0.00385424 0 11 7,.,. 1,.,. recessive HG002 HG002 chr6:58701573:T:C 2,.,. -1 -1 -1 0.00315347 0 9 9,.,. 1,.,. recessive HG002 HG002 chr6:58786824:T:C 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr6:58807898:T:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr6:58811079:T:C 2,.,. -1 -1 -1 0.000700771 0 2 10,.,. 1,.,. recessive HG002 HG002 chr6:58835532:AT:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr6:58835534:A:G 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.990741,.,. recessive HG002 HG002 chr6:58835539:T:C 2,.,. -1 -1 -1 0.00630694 0 18 108,.,. 0.981481,.,. recessive HG002 HG002 chr6:58853864:T:C 2,.,. -1 -1 -1 0.0122635 1 35 6,.,. 1,.,. recessive HG002 HG002 chr6:58934498:A:C 2,.,. -1 -1 -1 0.00805886 2 23 8,.,. 1,.,. recessive HG002 HG002 chr6:59003781:T:C 2,.,. -1 -1 -1 0.0210231 4 60 309,.,. 0.983819,.,. recessive HG002 HG002 chr6:59123486:A:C 2,.,. -1 -1 -1 0.00280308 1 8 70,.,. 1,.,. recessive HG002 HG002 chr6:59129595:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr6:59198656:T:C 2,.,. -1 -1 -1 0.0297828 0 85 434,.,. 0.997696,.,. recessive HG002 HG002 chr6:59204770:T:C 2,.,. -1 -1 -1 0.00315347 0 9 138,.,. 0.985507,.,. recessive HG002 HG002 chr6:59205989:A:C 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr6:59395514:T:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr6:59550801:A:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr6:59730998:A:C 2,.,. -1 -1 -1 0.00350385 2 10 118,.,. 1,.,. recessive HG002 HG002 chr6:59735887:T:C 2,.,. -1 -1 -1 0.0175193 4 50 59,.,. 1,.,. recessive HG002 HG002 chr6:59737106:A:C 2,.,. -1 -1 -1 0.00280308 1 8 52,.,. 1,.,. recessive HG002 HG002 chr6:59775820:T:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr6:59808125:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr6:59808151:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr6:59808154:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr6:59810472:A:C 2,.,. -1 -1 -1 0.00350385 3 10 20,.,. 1,.,. recessive HG002 HG002 chr6:59820798:G:T 2,.,. -1 -1 -1 0.00210231 2 6 14,.,. 1,.,. recessive HG002 HG002 chr6:60562033:T:G 2,.,. -1 -1 -1 0.00105116 0 3 32,.,. 1,.,. dominant HG002 HG002 chr6:60666466:G:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.340909,.,. dominant HG002 HG002 chr6:60996984:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr6:61239741:A:G 1,.,. 6.57186e-06 0 1 -1 -1 -1 49,.,. 0.469388,.,. recessive HG002 HG002 chr6:61322966:G:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr6:61322984:G:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr6:61322994:G:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr6:61323020:C:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr6:61323030:A:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr6:61323035:C:T 2,.,. 0.000615148 0 32 -1 -1 -1 9,.,. 1,.,. dominant HG002 HG002 chr6:61510450:TTGA:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr6:61510455:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. recessive HG002 HG002 chr6:61573897:A:ACAAGGC 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr6:61573898:A:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr6:61573899:C:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr6:61867309:G:A 1,.,. 2.62878e-05 0 4 -1 -1 -1 KHDRBS2 50_intron 42,.,. 0.547619,.,. KHDRBS2/intron/ 0.0520 0.5068 0.8840 4 dominant HG002 HG002 chr6:61869981:T:G 1,.,. 1.35912e-05 0 2 -1 -1 -1 KHDRBS2 50_intron 41,.,. 0.463415,.,. KHDRBS2/intron/ 0.0520 0.5068 0.8840 4 dominant HG002 HG002 chr6:62418604:A:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr6:62674117:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr6:62782488:AATAT:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.538462,.,. dominant HG002 HG002 chr6:62860908:G:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr6:62860909:T:G 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr6:62930911:AAC:A 1,.,. -1 -1 -1 0.00140154 0 4 52,.,. 0.423077,.,. dominant HG002 HG002 chr6:63427453:T:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. recessive HG002 HG002 chr6:63452762:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr6:63452763:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr6:63452765:T:C 2,.,. 6.61848e-06 0 1 0.000700771 0 2 31,.,. 1,.,. dominant HG002 HG002 chr6:63908030:ATACGTTTGTGTGTG:A 1,.,. -1 -1 -1 -1 -1 -1 EYS 50_intron 31,.,. 0.451613,.,. EYS/intron/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 dominant HG002 HG002 chr6:63908045:T:C 1,.,. 4.68582e-05 0 2 -1 -1 -1 EYS 50_intron 33,.,. 0.454545,.,. EYS/intron/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 dominant HG002 HG002 chr6:64265091:G:GTTTACCCC 1,.,. -1 -1 -1 -1 -1 -1 EYS 50_intron 47,.,. 0.361702,.,. EYS/intron/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 recessive HG002 HG002 chr6:64986762:T:TTAAAATTTTAACTA 2,.,. -1 -1 -1 -1 -1 -1 EYS 50_intron 54,.,. 0.981481,.,. EYS/intron/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 recessive HG002 HG002 chr6:64986763:G:C 2,.,. 1.99503e-05 0 3 0.000700771 0 2 EYS 50_intron 55,.,. 1,.,. EYS/intron/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 recessive HG002 HG002 chr6:64986767:T:TAAAAAC 2,.,. -1 -1 -1 -1 -1 -1 EYS 50_intron 54,.,. 0.981481,.,. EYS/intron/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 dominant HG002 HG002 chr6:65069714:C:T 1,.,. 6.58597e-06 0 1 -1 -1 -1 EYS 50_intron 49,.,. 0.469388,.,. EYS/intron/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 dominant HG002 HG002 chr6:65129488:A:G 1,.,. -1 -1 -1 -1 -1 -1 EYS 50_intron 56,.,. 0.535714,.,. EYS/intron/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 recessive HG002 HG002 chr6:65185992:C:T 2,.,. -1 -1 -1 -1 -1 -1 EYS 50_intron 41,.,. 1,.,. EYS/intron/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 recessive HG002 HG002 chr6:65185993:A:AAATAAGT 2,.,. -1 -1 -1 -1 -1 -1 EYS 50_intron 41,.,. 1,.,. EYS/intron/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 recessive HG002 HG002 chr6:65185994:C:A 2,.,. -1 -1 -1 -1 -1 -1 EYS 50_intron 41,.,. 1,.,. EYS/intron/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 recessive HG002 HG002 chr6:65185995:T:A 2,.,. -1 -1 -1 -1 -1 -1 EYS 50_intron 41,.,. 1,.,. EYS/intron/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 recessive HG002 HG002 chr6:65442841:T:C 2,.,. -1 -1 -1 0.00105116 0 3 EYS 50_intron 44,.,. 1,.,. EYS/intron/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 recessive HG002 HG002 chr6:65442899:T:TATATATACATGCACATACAAATGCACATATATGTATATATACATATATACATGCACATACAAATGTACATATATGTATATATACATATATACATGCACATACAAATGTACATATATGTATATATACATATATACATGCACATACAAATGTACATATATGTATATACATGCATACATATATGTATATAC 2,.,. -1 -1 -1 0.00840925 0 24 EYS 50_intron 44,.,. 1,.,. EYS/intron/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 recessive HG002 HG002 chr6:65443265:AACATATAG:A 2,.,. -1 -1 -1 0.00350385 0 10 EYS 50_intron 44,.,. 1,.,. EYS/intron/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 dominant HG002 HG002 chr6:65581338:C:G 1,.,. -1 -1 -1 -1 -1 -1 EYS 50_intron 39,.,. 0.461538,.,. EYS/intron/;EYS/non_coding/ 0.0000 0.8474 0.9600 4 Retinitis pigmentosa 25 0.000 recessive HG002 HG002 chr6:65727798:G:C 2,.,. 0.00357234 0 56 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr6:66216513:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.413043,.,. recessive HG002 HG002 chr6:66461521:T:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr6:66461522:G:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr6:66461523:AACAGTGAAC:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr6:66461533:A:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr6:66700667:G:A 2,.,. -1 -1 -1 0.000700771 0 2 39,.,. 1,.,. recessive HG002 HG002 chr6:66782703:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr6:66976998:G:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr6:67055430:TAA:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr6:67055433:T:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr6:67055434:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr6:67073237:C:T 1,.,. 6.59022e-06 0 1 -1 -1 -1 51,.,. 0.45098,.,. dominant HG002 HG002 chr6:67219659:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. recessive HG002 HG002 chr6:67258670:G:A 2,.,. 0.00169523 2 258 0.00140154 0 4 42,.,. 1,.,. recessive HG002 HG002 chr6:67273980:T:C 2,.,. 0.0017014 2 259 0.00140154 0 4 41,.,. 1,.,. recessive HG002 HG002 chr6:67432605:TTA:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr6:67432608:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr6:67515166:G:A 2,.,. 0.00173554 3 264 0.00105116 0 3 41,.,. 1,.,. recessive HG002 HG002 chr6:67559673:C:A 2,.,. 0.00175386 3 267 0.00140154 0 4 36,.,. 1,.,. recessive HG002 HG002 chr6:67643913:T:C 2,.,. 0.00181253 3 274 0.00175193 0 5 48,.,. 1,.,. recessive HG002 HG002 chr6:67648211:G:A 2,.,. 0.00248422 3 244 0.00175193 0 5 41,.,. 1,.,. recessive HG002 HG002 chr6:67679492:C:T 2,.,. 0.00181926 3 277 0.00175193 0 5 40,.,. 1,.,. recessive HG002 HG002 chr6:67778254:T:C 2,.,. 0.00185734 3 282 0.00175193 0 5 45,.,. 1,.,. recessive HG002 HG002 chr6:68494869:A:C 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. dominant HG002 HG002 chr6:68817320:T:A 1,.,. -1 -1 -1 -1 -1 -1 ADGRB3 50_intron 41,.,. 0.317073,.,. ADGRB3/intron/ 1.0000 0.1792 0.2460 0 recessive HG002 HG002 chr6:68915297:G:GAA 2,.,. -1 -1 -1 -1 -1 -1 ADGRB3 50_intron 44,.,. 1,.,. ADGRB3/intron/ 1.0000 0.1792 0.2460 0 recessive HG002 HG002 chr6:68915298:T:G 2,.,. -1 -1 -1 -1 -1 -1 ADGRB3 50_intron 44,.,. 1,.,. ADGRB3/intron/ 1.0000 0.1792 0.2460 0 recessive HG002 HG002 chr6:68915299:T:A 2,.,. -1 -1 -1 -1 -1 -1 ADGRB3 50_intron 44,.,. 1,.,. ADGRB3/intron/ 1.0000 0.1792 0.2460 0 recessive HG002 HG002 chr6:68915300:A:T 2,.,. -1 -1 -1 -1 -1 -1 ADGRB3 50_intron 44,.,. 1,.,. ADGRB3/intron/ 1.0000 0.1792 0.2460 0 dominant HG002 HG002 chr6:69118455:C:T 1,.,. -1 -1 -1 -1 -1 -1 ADGRB3 50_intron 36,.,. 0.333333,.,. ADGRB3/intron/ 1.0000 0.1792 0.2460 0 dominant HG002 HG002 chr6:69118456:CCA:C 1,.,. -1 -1 -1 -1 -1 -1 ADGRB3 50_intron 36,.,. 0.333333,.,. ADGRB3/intron/ 1.0000 0.1792 0.2460 0 dominant HG002 HG002 chr6:69118459:G:A 1,.,. -1 -1 -1 -1 -1 -1 ADGRB3 50_intron 35,.,. 0.342857,.,. ADGRB3/intron/ 1.0000 0.1792 0.2460 0 dominant HG002 HG002 chr6:69516463:A:G 1,.,. 9.55347e-06 0 1 -1 -1 -1 55,.,. 0.6,.,. dominant HG002 HG002 chr6:69857503:A:G 1,.,. -1 -1 -1 -1 -1 -1 LMBRD1 50_intron 38,.,. 0.526316,.,. LMBRD1/non_coding/;LMBRD1/intron/ 0.0000 0.8852 1.1840 6 Methylmalonic aciduria and homocystinuria type cblF 0.000 dominant HG002 HG002 chr6:69868212:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 COL19A1 50_intron 41,.,. 0.390244,.,. COL19A1/intron/;COL19A1/non_coding/ 0.0000 0.7410 0.8760 4 dominant HG002 HG002 chr6:69868213:G:A 1,.,. 1.34298e-05 0 2 -1 -1 -1 COL19A1 50_intron 41,.,. 0.487805,.,. COL19A1/intron/;COL19A1/non_coding/ 0.0000 0.7410 0.8760 4 dominant HG002 HG002 chr6:69887756:A:C 1,.,. 6.5716e-06 0 1 -1 -1 -1 COL19A1 50_intron 37,.,. 0.459459,.,. COL19A1/intron/;COL19A1/non_coding/ 0.0000 0.7410 0.8760 4 dominant HG002 HG002 chr6:69894757:G:C 1,.,. -1 -1 -1 -1 -1 -1 COL19A1 50_intron 45,.,. 0.466667,.,. COL19A1/intron/ 0.0000 0.7410 0.8760 4 dominant HG002 HG002 chr6:69922030:C:T 1,.,. 2.63182e-05 0 4 -1 -1 -1 COL19A1 50_intron 40,.,. 0.4,.,. COL19A1/intron/ 0.0000 0.7410 0.8760 4 dominant HG002 HG002 chr6:69967933:CGTAGCGTAAA:C 1,.,. -1 -1 -1 -1 -1 -1 COL19A1 50_intron 56,.,. 0.464286,.,. COL19A1/intron/;COL19A1/non_coding/ 0.0000 0.7410 0.8760 4 dominant HG002 HG002 chr6:70218737:C:CAGTGGTCTTATT 1,.,. -1 -1 -1 -1 -1 -1 COL9A1 50_intron 53,.,. 0.54717,.,. COL9A1/intron/;COL9A1/non_coding/ 0.0000 0.7491 0.8890 4 Epiphyseal dysplasia, multiple, 6;Stickler syndrome, type 4 0.000 dominant HG002 HG002 chr6:70218739:T:C 1,.,. -1 -1 -1 -1 -1 -1 COL9A1 50_intron 54,.,. 0.555556,.,. COL9A1/intron/;COL9A1/non_coding/ 0.0000 0.7491 0.8890 4 Epiphyseal dysplasia, multiple, 6;Stickler syndrome, type 4 0.000 dominant HG002 HG002 chr6:70391604:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr6:70611747:C:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.358974,.,. dominant HG002 HG002 chr6:70628124:C:T 1,.,. 1.31389e-05 0 2 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr6:70938261:A:C 1,.,. -1 -1 -1 -1 -1 -1 B3GAT2 50_intron 38,.,. 0.5,.,. B3GAT2/intron/ 0.0000 0.9805 1.3600 7 dominant HG002 HG002 chr6:71189224:C:A 1,.,. 2.25819e-05 0 3 -1 -1 -1 51,.,. 0.529412,.,. dominant HG002 HG002 chr6:71190495:GGAGTTT:G 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.48,.,. dominant HG002 HG002 chr6:71190503:A:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.489796,.,. recessive HG002 HG002 chr6:71382249:A:AAT 2,.,. -1 -1 -1 0.00280308 0 8 29,.,. 1,.,. dominant HG002 HG002 chr6:71554518:T:C 1,.,. 1.98894e-05 0 3 -1 -1 -1 46,.,. 0.434783,.,. dominant HG002 HG002 chr6:71790932:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.589744,.,. dominant HG002 HG002 chr6:71790933:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.6,.,. dominant HG002 HG002 chr6:72190479:AAAAAAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 RIMS1 50_intron 37,.,. 0.378378,.,. RIMS1/intron/;RIMS1/non_coding/ 0.9453 0.3773 0.4960 1 0.000 dominant HG002 HG002 chr6:72278151:T:TTATC 1,.,. -1 -1 -1 -1 -1 -1 RIMS1 50_intron 46,.,. 0.413043,.,. RIMS1/intron/;RIMS1/non_coding/ 0.9453 0.3773 0.4960 1 0.000 dominant HG002 HG002 chr6:72587291:C:CAAATAAAT 1,.,. 1.32684e-05 0 2 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr6:72738030:CTGTAG:C 1,.,. -1 -1 -1 -1 -1 -1 KCNQ5 50_intron 48,.,. 0.375,.,. KCNQ5/intron/ 0.9999 0.2895 0.4170 1 Intellectual disability, autosomal dominant 46 0.000 dominant HG002 HG002 chr6:72738037:T:A 1,.,. -1 -1 -1 -1 -1 -1 KCNQ5 50_intron 48,.,. 0.395833,.,. KCNQ5/intron/ 0.9999 0.2895 0.4170 1 Intellectual disability, autosomal dominant 46 0.000 recessive HG002 HG002 chr6:72775577:GGAGAAAAATAA:G 2,.,. -1 -1 -1 -1 -1 -1 KCNQ5 50_intron 42,.,. 1,.,. KCNQ5/intron/ 0.9999 0.2895 0.4170 1 Intellectual disability, autosomal dominant 46 0.000 recessive HG002 HG002 chr6:72775589:C:A 2,.,. -1 -1 -1 -1 -1 -1 KCNQ5 50_intron 42,.,. 1,.,. KCNQ5/intron/ 0.9999 0.2895 0.4170 1 Intellectual disability, autosomal dominant 46 0.000 recessive HG002 HG002 chr6:73125835:T:G 2,.,. -1 -1 -1 -1 -1 -1 KCNQ5 50_intron 44,.,. 1,.,. KCNQ5/intron/ 0.9999 0.2895 0.4170 1 Intellectual disability, autosomal dominant 46 0.000 recessive HG002 HG002 chr6:73125837:A:G 2,.,. -1 -1 -1 -1 -1 -1 KCNQ5 50_intron 44,.,. 1,.,. KCNQ5/intron/ 0.9999 0.2895 0.4170 1 Intellectual disability, autosomal dominant 46 0.000 recessive HG002 HG002 chr6:73125847:A:G 2,.,. -1 -1 -1 -1 -1 -1 KCNQ5 50_intron 44,.,. 1,.,. KCNQ5/intron/ 0.9999 0.2895 0.4170 1 Intellectual disability, autosomal dominant 46 0.000 dominant HG002 HG002 chr6:73278004:C:T 1,.,. -1 -1 -1 -1 -1 -1 KHDC1 50_intron 32,.,. 0.5625,.,. KHDC1/intron/;KHDC1/non_coding/ 0.0000 0.8241 1.1870 6 dominant HG002 HG002 chr6:73489167:C:T 1,.,. -1 -1 -1 -1 -1 -1 MTO1 50_intron 32,.,. 0.59375,.,. MTO1/intron/;MTO1/non_coding/ 0.0000 0.6450 0.8200 3 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 0.000 dominant HG002 HG002 chr6:73921981:A:G 1,.,. 2.64515e-05 0 4 -1 -1 -1 44,.,. 0.5,.,. recessive HG002 HG002 chr6:74223006:GCCTCAGCAGTGGCGGATGCCCCTCCCCCAGTCAAGCTGCAGCATCACAGATTGATCTCAGACTGCTGCGCTAGCAATGAGCAAGGCTCCGTGGGCGTGGGACCTGCTGAGCCAGGCACGGGAGGGTATCTCCTGGTCTGCTGGTTGCTAAGACTGTTGGAAAAGCACAATATTTAGTCAGGAGTATGCTGTTTCTCTGGGTACAGTCTGTCACGGCTTCCCTTGGCTGGGAAAGGGAAATTCCCCAACCCCTGTGCTTCCTGGTTGAGGTGATGCCCTGCCGTGCTTCAACTTGTCCTCTGTGGGCTGCGCCCACTGTCCAACCAGTCCCAATGAGATGAAC:G 2,.,. -1 -1 -1 0.00175193 2 5 52,.,. 1,.,. recessive HG002 HG002 chr6:74223353:T:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr6:74223356:C:T 2,.,. 2.0404e-05 0 1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr6:74223357:T:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr6:74247303:C:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. dominant HG002 HG002 chr6:74408254:TATATATATATATATAC:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.326087,.,. dominant HG002 HG002 chr6:74408278:T:C 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.333333,.,. dominant HG002 HG002 chr6:74492982:T:A 1,.,. 1.97099e-05 0 3 -1 -1 -1 50,.,. 0.6,.,. dominant HG002 HG002 chr6:74500482:C:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.75,.,. dominant HG002 HG002 chr6:74674076:C:T 1,.,. 1.97348e-05 0 3 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr6:74720820:A:ATTCCTC 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. recessive HG002 HG002 chr6:75397603:T:A 2,.,. 0.0186106 2 292 0.00140154 0 4 FILIP1 50_intron 39,.,. 1,.,. FILIP1/intron/ 0.0000 0.5737 0.7110 2 Neuromuscular disorder, congenital, with dysmorphic facies dominant HG002 HG002 chr6:75541662:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr6:75736753:G:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. recessive HG002 HG002 chr6:76024395:C:CTTAGA 2,.,. -1 -1 -1 -1 -1 -1 IMPG1 50_intron 40,.,. 1,.,. IMPG1/intron/ 0.0000 0.9797 1.2170 6 Vitelliform macular dystrophy 4;Benign concentric annular macular dystrophy 0.000 recessive HG002 HG002 chr6:76024398:T:A 2,.,. -1 -1 -1 -1 -1 -1 IMPG1 50_intron 40,.,. 1,.,. IMPG1/intron/ 0.0000 0.9797 1.2170 6 Vitelliform macular dystrophy 4;Benign concentric annular macular dystrophy 0.000 dominant HG002 HG002 chr6:76557622:T:TTA 1,.,. 6.30597e-05 0 1 -1 -1 -1 32,.,. 0.5625,.,. dominant HG002 HG002 chr6:76686237:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. recessive HG002 HG002 chr6:76816379:CTAACA:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr6:76816385:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr6:76967802:T:G 1,.,. 6.56987e-06 0 1 -1 -1 -1 43,.,. 0.55814,.,. dominant HG002 HG002 chr6:77054329:T:C 1,.,. 1.31392e-05 0 2 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr6:77062617:A:AAAG 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr6:77299829:T:C 1,.,. 6.59344e-06 0 1 -1 -1 -1 63,.,. 0.507937,.,. dominant HG002 HG002 chr6:77438068:A:G 1,.,. 6.57428e-06 0 1 -1 -1 -1 44,.,. 0.590909,.,. dominant HG002 HG002 chr6:77788435:T:G 1,.,. 1.96985e-05 1 3 -1 -1 -1 MEI4 50_intron 41,.,. 0.658537,.,. MEI4/intron/ 0.0000 0.9835 1.3410 7 dominant HG002 HG002 chr6:77798051:T:C 1,.,. 6.57419e-06 0 1 -1 -1 -1 MEI4 50_intron 58,.,. 0.534483,.,. MEI4/intron/ 0.0000 0.9835 1.3410 7 dominant HG002 HG002 chr6:77946312:GGTGCT:G 1,.,. 1.26365e-05 0 1 -1 -1 -1 61,.,. 0.47541,.,. dominant HG002 HG002 chr6:77946319:C:G 1,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.47541,.,. dominant HG002 HG002 chr6:78104938:T:C 1,.,. 1.97006e-05 1 3 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr6:78264006:T:C 1,.,. 2.12092e-05 1 3 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr6:78401107:AAAAAAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr6:78429073:G:A 1,.,. 1.31477e-05 0 2 -1 -1 -1 44,.,. 0.522727,.,. recessive HG002 HG002 chr6:78576453:A:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. dominant HG002 HG002 chr6:78679935:T:C 1,.,. 1.9698e-05 1 3 -1 -1 -1 50,.,. 0.4,.,. dominant HG002 HG002 chr6:78684926:G:T 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.415094,.,. dominant HG002 HG002 chr6:78756715:G:T 1,.,. 6.56909e-06 0 1 -1 -1 -1 43,.,. 0.581395,.,. dominant HG002 HG002 chr6:78983760:T:C 1,.,. 1.96964e-05 1 3 -1 -1 -1 PHIP 50_intron 35,.,. 0.4,.,. PHIP/intron/ 1.0000 0.1488 0.2460 0 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0.000 recessive HG002 HG002 chr6:79174353:C:CCTTCG 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr6:79174355:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. dominant HG002 HG002 chr6:79217594:T:C 1,.,. 6.56892e-06 0 1 -1 -1 -1 HMGN3 50_intron 40,.,. 0.6,.,. HMGN3/intron/ 0.8246 0.2113 0.6650 2 dominant HG002 HG002 chr6:79679115:T:C 1,.,. 1.31416e-05 0 2 -1 -1 -1 SH3BGRL2 50_intron 56,.,. 0.589286,.,. SH3BGRL2/intron/ 0.0000 1.4244 1.9050 9 dominant HG002 HG002 chr6:79789423:C:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr6:79859661:C:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.595745,.,. dominant HG002 HG002 chr6:79859662:ACAGTATCCAGAT:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.583333,.,. dominant HG002 HG002 chr6:79859675:A:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.583333,.,. recessive HG002 HG002 chr6:79993302:T:A 2,.,. 0.00173611 0 39 0.024527 4 70 42,.,. 1,.,. dominant HG002 HG002 chr6:80355720:C:T 1,.,. 1.97275e-05 0 3 -1 -1 -1 35,.,. 0.485714,.,. recessive HG002 HG002 chr6:80381909:AAAACCTAAAACCT:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr6:80381925:A:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. dominant HG002 HG002 chr6:80441101:CACATGATGGT:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr6:80441113:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr6:80441114:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr6:80605018:T:TTTA 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.346939,.,. dominant HG002 HG002 chr6:80623549:C:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.615385,.,. dominant HG002 HG002 chr6:80645645:A:T 1,.,. 6.57134e-06 0 1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr6:80688912:C:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr6:80701646:T:C 1,.,. 6.57445e-06 0 1 -1 -1 -1 51,.,. 0.509804,.,. dominant HG002 HG002 chr6:80972936:C:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr6:81008848:T:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.413043,.,. dominant HG002 HG002 chr6:81133456:G:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr6:81203745:C:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.394737,.,. recessive HG002 HG002 chr6:81468395:ATATCATATATGTTACATATAAT:A 2,.,. -1 -1 -1 0.00385424 0 11 52,.,. 0.980769,.,. dominant HG002 HG002 chr6:81469602:T:C 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.551724,.,. dominant HG002 HG002 chr6:81630192:T:C 1,.,. -1 -1 -1 -1 -1 -1 TENT5A 50_intron 49,.,. 0.489796,.,. TENT5A/intron/ 0.9343 0.3122 0.5450 1 Osteogenesis imperfecta, type 18 0.000 recessive HG002 HG002 chr6:81682879:A:G 2,.,. -1 -1 -1 0.0049054 0 14 TENT5A 50_intron 32,.,. 1,.,. TENT5A/intron/ 0.9343 0.3122 0.5450 1 Osteogenesis imperfecta, type 18 0.000 dominant HG002 HG002 chr6:81923063:A:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr6:81923065:ATTTAAT:A 1,.,. 1.36411e-05 0 1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr6:82237653:A:ATAGTAGTAG 1,.,. -1 -1 -1 -1 -1 -1 IBTK 50_intron 43,.,. 0.418605,.,. IBTK/non_coding/;IBTK/intron/ 0.0065 0.4612 0.6260 2 dominant HG002 HG002 chr6:82312256:C:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr6:82432792:G:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr6:82658937:C:T 1,.,. 1.31614e-05 0 2 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr6:82746634:A:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.416667,.,. dominant HG002 HG002 chr6:82767543:C:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.5,.,. dominant HG002 HG002 chr6:82922354:G:A 1,.,. -1 -1 -1 -1 -1 -1 UBE3D 50_intron 41,.,. 0.487805,.,. UBE3D/intron/ 0.0000 0.8701 1.1540 6 dominant HG002 HG002 chr6:83196976:G:A 1,.,. 1.97125e-05 0 3 -1 -1 -1 RWDD2A 36_3_prime_utr 37,.,. 0.486486,.,. RWDD2A/3_prime_utr/ENST00000369724 0.0003 0.6512 0.9890 5 dominant HG002 HG002 chr6:83243549:T:TATTATATCGATATAATCTATTATAATTAC 1,.,. -1 -1 -1 -1 -1 -1 ME1 50_intron 46,.,. 0.413043,.,. ME1/intron/ 0.0000 0.8981 1.2390 7 recessive HG002 HG002 chr6:83543223:A:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr6:83681236:C:T 1,.,. 2.6304e-05 0 4 -1 -1 -1 SNAP91 50_intron 43,.,. 0.534884,.,. SNAP91/intron/ 0.9997 0.2620 0.4170 1 dominant HG002 HG002 chr6:84122970:C:T 1,.,. 2.63821e-05 0 4 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr6:84587197:C:T 1,.,. 2.62784e-05 0 4 -1 -1 -1 38,.,. 0.394737,.,. dominant HG002 HG002 chr6:84661466:C:T 1,.,. 2.62816e-05 0 4 -1 -1 -1 51,.,. 0.54902,.,. dominant HG002 HG002 chr6:84868669:C:A 1,.,. 2.62881e-05 0 4 -1 -1 -1 57,.,. 0.491228,.,. dominant HG002 HG002 chr6:85103624:A:AAGAAAGAAAGAAAGAAAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr6:85103660:A:AAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG 1,.,. 1.49243e-05 0 2 -1 -1 -1 29,.,. 0.275862,.,. dominant HG002 HG002 chr6:85181072:C:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.586957,.,. dominant HG002 HG002 chr6:85181074:G:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.595745,.,. dominant HG002 HG002 chr6:85182637:G:A 1,.,. 6.97973e-06 0 1 -1 -1 -1 44,.,. 0.590909,.,. dominant HG002 HG002 chr6:85205688:A:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.404762,.,. dominant HG002 HG002 chr6:85214118:A:T 1,.,. 2.64072e-05 0 4 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr6:85214129:T:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr6:85214130:A:T 1,.,. 0.000140331 0 2 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr6:85237631:G:T 1,.,. 2.63244e-05 0 4 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr6:85247202:G:T 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.5,.,. dominant HG002 HG002 chr6:85473477:G:A 1,.,. -1 -1 -1 -1 -1 -1 NT5E 50_intron 27,.,. 0.62963,.,. NT5E/intron/ 0.0000 0.9956 1.2540 7 Hereditary arterial and articular multiple calcification syndrome 0.000 dominant HG002 HG002 chr6:85582840:G:A 1,.,. 2.62978e-05 0 4 -1 -1 -1 SNX14 50_intron 44,.,. 0.5,.,. SNX14/intron/ 0.0000 0.6773 0.8530 3 Autosomal recessive spinocerebellar ataxia 20 0.000 dominant HG002 HG002 chr6:85726674:C:CT 1,.,. 1.97467e-05 0 3 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr6:85967261:G:T 1,.,. 6.56901e-06 0 1 -1 -1 -1 51,.,. 0.431373,.,. dominant HG002 HG002 chr6:85996800:C:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. recessive HG002 HG002 chr6:85999447:T:C 2,.,. -1 -1 -1 0.00280308 3 8 7,.,. 1,.,. recessive HG002 HG002 chr6:85999450:T:A 2,.,. -1 -1 -1 0.00105116 1 3 7,.,. 1,.,. recessive HG002 HG002 chr6:85999460:G:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr6:85999749:G:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr6:85999753:G:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr6:85999754:A:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr6:85999814:C:T 2,.,. -1 -1 -1 0.00315347 4 9 6,.,. 1,.,. recessive HG002 HG002 chr6:85999824:T:C 2,.,. -1 -1 -1 0.0024527 3 7 7,.,. 1,.,. recessive HG002 HG002 chr6:85999826:T:G 2,.,. -1 -1 -1 0.0024527 3 7 7,.,. 1,.,. recessive HG002 HG002 chr6:85999874:C:T 2,.,. -1 -1 -1 0.00315347 4 9 7,.,. 1,.,. recessive HG002 HG002 chr6:86000031:G:A 2,.,. -1 -1 -1 0.00280308 4 8 7,.,. 1,.,. dominant HG002 HG002 chr6:86090296:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr6:86096346:A:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.509804,.,. dominant HG002 HG002 chr6:86114209:G:A 1,.,. 2.63151e-05 0 4 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr6:86208761:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.625,.,. dominant HG002 HG002 chr6:86427593:C:CCT 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr6:86544702:C:T 1,.,. 1.31408e-05 0 2 -1 -1 -1 40,.,. 0.575,.,. recessive HG002 HG002 chr6:86702478:C:T 2,.,. 0.00164025 1 249 0.00210231 0 6 24,.,. 1,.,. dominant HG002 HG002 chr6:87010362:G:A 1,.,. 1.70462e-05 0 2 -1 -1 -1 HTR1E 50_intron 32,.,. 0.375,.,. HTR1E/intron/ 0.0728 0.6233 1.4070 7 dominant HG002 HG002 chr6:87402557:GTATATGTGTA:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr6:87402582:CATACGT:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr6:87416643:T:C 1,.,. -1 -1 -1 -1 -1 -1 CFAP206;AL049697.1 50_intron 40,.,. 0.625,.,. CFAP206/intron/;AL049697.1/intron/;CFAP206/non_coding/ 0.0000 0.7510 0.9920 5 dominant HG002 HG002 chr6:88111754:G:A 1,.,. 6.7547e-05 0 4 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr6:88295526:A:G 1,.,. 1.97096e-05 0 3 -1 -1 -1 39,.,. 0.615385,.,. dominant HG002 HG002 chr6:88550184:GTATATCA:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr6:88550193:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr6:88561745:GA:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr6:88698269:G:A 1,.,. -1 -1 -1 -1 -1 -1 RNGTT 50_intron 49,.,. 0.632653,.,. RNGTT/intron/;RNGTT/non_coding/ 0.8045 0.3650 0.5620 1 dominant HG002 HG002 chr6:88795693:AACC:A 1,.,. -1 -1 -1 -1 -1 -1 RNGTT 50_intron 49,.,. 0.387755,.,. RNGTT/intron/;RNGTT/non_coding/ 0.8045 0.3650 0.5620 1 recessive HG002 HG002 chr6:89131458:C:CTG 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr6:89588176:CCACCTTG:C 1,.,. -1 -1 -1 -1 -1 -1 ANKRD6 50_intron 41,.,. 0.439024,.,. ANKRD6/intron/;ANKRD6/non_coding/ 0.0000 0.6865 0.8690 4 dominant HG002 HG002 chr6:89588187:T:C 1,.,. -1 -1 -1 -1 -1 -1 ANKRD6 50_intron 38,.,. 0.473684,.,. ANKRD6/intron/;ANKRD6/non_coding/ 0.0000 0.6865 0.8690 4 dominant HG002 HG002 chr6:89810010:A:T 1,.,. -1 -1 -1 -1 -1 -1 MDN1 50_intron 34,.,. 0.411765,.,. MDN1/intron/ 1.0000 0.3741 0.4170 1 recessive HG002 HG002 chr6:90495918:TTCTGGAA:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr6:90495926:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr6:90718800:C:A 1,.,. -1 -1 -1 0.000700771 0 2 30,.,. 0.5,.,. dominant HG002 HG002 chr6:90757114:G:A 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.592593,.,. dominant HG002 HG002 chr6:91461797:T:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr6:91461798:TAGCTGTCATTAGCA:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr6:91461813:C:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. recessive HG002 HG002 chr6:91567857:C:T 2,.,. 0.00114063 0 31 -1 -1 -1 55,.,. 1,.,. dominant HG002 HG002 chr6:91586160:T:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.617021,.,. dominant HG002 HG002 chr6:92267176:TGAATTTGTATATTA:T 1,.,. 6.69031e-06 0 1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr6:92267191:G:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr6:92490553:A:C 1,.,. 6.60816e-06 0 1 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr6:92490554:GTT:G 1,.,. 6.63588e-06 0 1 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr6:92532626:A:G 1,.,. 1.31427e-05 0 2 -1 -1 -1 51,.,. 0.45098,.,. dominant HG002 HG002 chr6:92598308:C:CCA 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.508772,.,. recessive HG002 HG002 chr6:92639508:TAC:T 2,.,. 0.00773196 0 3 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr6:92639517:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr6:92639518:C:G 2,.,. 0.0047619 0 2 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr6:92917055:AT:A 1,.,. 6.59578e-06 0 1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr6:93020486:AAAAAAAAACAAAC:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.392857,.,. recessive HG002 HG002 chr6:93026442:TTC:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr6:93026449:T:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr6:93104945:TTG:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. recessive HG002 HG002 chr6:93113773:G:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr6:93113774:C:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr6:93113775:A:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr6:93125294:C:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.575,.,. dominant HG002 HG002 chr6:93125295:C:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.575,.,. dominant HG002 HG002 chr6:93130596:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr6:93227646:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr6:93637606:C:T 1,.,. 6.57186e-06 0 1 -1 -1 -1 42,.,. 0.52381,.,. recessive HG002 HG002 chr6:93909455:G:T 2,.,. 3.30657e-05 1 5 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr6:94280930:T:C 1,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.40678,.,. dominant HG002 HG002 chr6:94661131:G:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. recessive HG002 HG002 chr6:95502709:T:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr6:95590713:C:A 1,.,. -1 -1 -1 -1 -1 -1 MANEA 50_intron 49,.,. 0.469388,.,. MANEA/intron/;MANEA/non_coding/ 0.0002 0.6260 0.9280 4 dominant HG002 HG002 chr6:95691295:C:T 1,.,. 6.57523e-06 0 1 -1 -1 -1 55,.,. 0.454545,.,. dominant HG002 HG002 chr6:95938063:G:A 1,.,. 2.62964e-05 0 4 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr6:96003537:T:G 1,.,. 6.57479e-06 0 1 -1 -1 -1 50,.,. 0.44,.,. dominant HG002 HG002 chr6:96108721:C:T 1,.,. 6.57402e-06 0 1 -1 -1 -1 FUT9 50_intron 34,.,. 0.470588,.,. FUT9/intron/ 0.0411 0.4806 0.7640 3 recessive HG002 HG002 chr6:96181584:T:C 2,.,. -1 -1 -1 -1 -1 -1 FUT9 50_intron 43,.,. 1,.,. FUT9/intron/ 0.0411 0.4806 0.7640 3 dominant HG002 HG002 chr6:96383873:T:TTGTG 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.297297,.,. dominant HG002 HG002 chr6:96430990:G:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. recessive HG002 HG002 chr6:96625783:AGCT:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr6:96625787:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. dominant HG002 HG002 chr6:96652699:T:TTGCACCGACTGTACA 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr6:97001474:G:T 1,.,. 1.97496e-05 0 3 -1 -1 -1 KLHL32 50_intron 44,.,. 0.431818,.,. KLHL32/intron/ 0.0002 0.5299 0.7310 2 recessive HG002 HG002 chr6:97238856:C:T 2,.,. -1 -1 -1 -1 -1 -1 MMS22L 50_intron 32,.,. 1,.,. MMS22L/intron/ 0.6208 0.3989 0.5060 1 recessive HG002 HG002 chr6:97238891:C:CCG 2,.,. -1 -1 -1 -1 -1 -1 MMS22L 50_intron 37,.,. 1,.,. MMS22L/intron/ 0.6208 0.3989 0.5060 1 recessive HG002 HG002 chr6:97238892:G:C 2,.,. -1 -1 -1 -1 -1 -1 MMS22L 50_intron 37,.,. 1,.,. MMS22L/intron/ 0.6208 0.3989 0.5060 1 dominant HG002 HG002 chr6:97940970:C:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr6:98940992:C:T 1,.,. 6.57237e-06 0 1 -1 -1 -1 FBXL4 50_intron 29,.,. 0.517241,.,. FBXL4/intron/ 0.0000 0.6457 0.8410 3 Mitochondrial DNA depletion syndrome 13 0.000 dominant HG002 HG002 chr6:99046418:G:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr6:99153001:A:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr6:99437923:G:A 1,.,. 1.97169e-05 0 3 -1 -1 -1 USP45 50_intron 26,.,. 0.423077,.,. USP45/intron/ 0.0000 0.8672 1.0900 5 Leber congenital amaurosis 19 0.000 recessive HG002 HG002 chr6:99812403:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr6:99815074:A:G 1,.,. 1.97187e-05 0 3 0.000700771 0 2 23,.,. 0.565217,.,. dominant HG002 HG002 chr6:99937559:C:T 1,.,. 1.97675e-05 0 3 0.000700771 0 2 MCHR2 50_intron 46,.,. 0.652174,.,. MCHR2/intron/ 0.0002 0.6484 0.9730 4 recessive HG002 HG002 chr6:100159377:T:A 2,.,. 0.000336474 0 4 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr6:100229697:G:GCGCA 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.342857,.,. recessive HG002 HG002 chr6:100332958:T:C 2,.,. -1 -1 -1 0.00595655 1 17 45,.,. 1,.,. dominant HG002 HG002 chr6:100398956:TGTGTATG:T 1,.,. -1 -1 -1 -1 -1 -1 SIM1 50_intron 42,.,. 0.404762,.,. SIM1/intron/ 1.0000 0.2236 0.3320 0 0.000 dominant HG002 HG002 chr6:100706106:G:A 1,.,. 1.97892e-05 0 3 -1 -1 -1 ASCC3 50_intron 37,.,. 0.378378,.,. ASCC3/intron/ 0.0000 0.5897 0.6770 2 Intellectual developmental disorder, autosomal recessive 81 recessive HG002 HG002 chr6:100721798:G:T 2,.,. 0.0158 4 742 0.00315347 0 9 ASCC3 50_intron 51,.,. 1,.,. ASCC3/intron/ 0.0000 0.5897 0.6770 2 Intellectual developmental disorder, autosomal recessive 81 dominant HG002 HG002 chr6:100897495:A:G 1,.,. 6.56978e-06 0 1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr6:101333960:C:T 1,.,. -1 -1 -1 -1 -1 -1 GRIK2 50_intron 55,.,. 0.563636,.,. GRIK2/intron/ 0.9870 0.2418 0.4770 1 Intellectual disability, autosomal recessive 6;Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 0.000 dominant HG002 HG002 chr6:101460194:C:A 1,.,. 2.62764e-05 0 4 -1 -1 -1 GRIK2 50_intron 46,.,. 0.478261,.,. GRIK2/intron/ 0.9870 0.2418 0.4770 1 Intellectual disability, autosomal recessive 6;Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 0.000 dominant HG002 HG002 chr6:101760457:AATTATATT:A 1,.,. -1 -1 -1 -1 -1 -1 GRIK2 50_intron 39,.,. 0.589744,.,. GRIK2/intron/ 0.9870 0.2418 0.4770 1 Intellectual disability, autosomal recessive 6;Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 0.000 dominant HG002 HG002 chr6:101760468:A:T 1,.,. -1 -1 -1 -1 -1 -1 GRIK2 50_intron 38,.,. 0.578947,.,. GRIK2/intron/ 0.9870 0.2418 0.4770 1 Intellectual disability, autosomal recessive 6;Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 0.000 dominant HG002 HG002 chr6:101760494:T:TTATATTTAATTATATATTTATTATA 1,.,. -1 -1 -1 0.000700771 0 2 GRIK2 50_intron 38,.,. 0.394737,.,. GRIK2/intron/ 0.9870 0.2418 0.4770 1 Intellectual disability, autosomal recessive 6;Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 0.000 dominant HG002 HG002 chr6:102143545:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.333333,.,. recessive HG002 HG002 chr6:102230546:AAT:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr6:102230549:G:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. dominant HG002 HG002 chr6:102367935:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr6:102764620:A:G 1,.,. 7.57782e-06 0 1 0.00105116 0 3 36,.,. 0.444444,.,. dominant HG002 HG002 chr6:102906637:A:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.580645,.,. dominant HG002 HG002 chr6:102947113:G:A 1,.,. 2.15103e-05 0 3 -1 -1 -1 32,.,. 0.625,.,. dominant HG002 HG002 chr6:103404930:G:A 1,.,. 2.62874e-05 0 4 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr6:103503309:GGTAC:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr6:103503314:T:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. recessive HG002 HG002 chr6:104324420:C:T 2,.,. 8.71536e-05 0 2 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr6:105279463:A:G 1,.,. -1 -1 -1 -1 -1 -1 PREP 50_intron 39,.,. 0.512821,.,. PREP/intron/ 1.0000 0.2785 0.3950 0 dominant HG002 HG002 chr6:105824202:A:G 1,.,. 1.05407e-05 0 1 0.00105116 0 3 36,.,. 0.416667,.,. dominant HG002 HG002 chr6:105942979:T:G 1,.,. 1.97184e-05 0 3 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr6:106083781:T:C 1,.,. 1.97094e-05 0 3 -1 -1 -1 PRDM1;ATG5 50_intron 29,.,. 0.448276,.,. PRDM1/intron/;ATG5/intron/ 1.0000;;0.3169 0.1974;;0.4094 0.3140;;0.7390 0;;3 Spinocerebellar ataxia, autosomal recessive 25 0.000 dominant HG002 HG002 chr6:106175812:G:A 1,.,. 1.32564e-05 0 2 -1 -1 -1 ATG5 50_intron 47,.,. 0.638298,.,. ATG5/intron/ 0.3169 0.4094 0.7390 3 Spinocerebellar ataxia, autosomal recessive 25 0.000 dominant HG002 HG002 chr6:106196301:G:A 1,.,. 1.31449e-05 0 2 -1 -1 -1 ATG5 50_intron 41,.,. 0.439024,.,. ATG5/intron/;ATG5/non_coding/ 0.3169 0.4094 0.7390 3 Spinocerebellar ataxia, autosomal recessive 25 0.000 recessive HG002 HG002 chr6:106377616:A:G 2,.,. -1 -1 -1 -1 -1 -1 CRYBG1 50_intron 39,.,. 1,.,. CRYBG1/intron/ 0.0000 0.7378 0.8560 3 recessive HG002 HG002 chr6:106377617:G:T 2,.,. -1 -1 -1 -1 -1 -1 CRYBG1 50_intron 39,.,. 1,.,. CRYBG1/intron/ 0.0000 0.7378 0.8560 3 recessive HG002 HG002 chr6:106484469:CCA:C 2,.,. -1 -1 -1 -1 -1 -1 CRYBG1 50_intron 39,.,. 1,.,. CRYBG1/intron/ 0.0000 0.7378 0.8560 3 recessive HG002 HG002 chr6:106484472:C:A 2,.,. -1 -1 -1 -1 -1 -1 CRYBG1 50_intron 39,.,. 1,.,. CRYBG1/intron/ 0.0000 0.7378 0.8560 3 dominant HG002 HG002 chr6:106616576:T:C 1,.,. -1 -1 -1 -1 -1 -1 RTN4IP1 50_intron 37,.,. 0.540541,.,. RTN4IP1/intron/ 0.0000 0.6984 0.9520 4 Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 0.000 dominant HG002 HG002 chr6:107073951:G:C 1,.,. 1.31468e-05 0 2 -1 -1 -1 BEND3 50_intron 27,.,. 0.555556,.,. BEND3/intron/ 1.0000 0.2134 0.3390 0 dominant HG002 HG002 chr6:107402487:C:T 1,.,. -1 -1 -1 -1 -1 -1 PDSS2 50_intron 41,.,. 0.512195,.,. PDSS2/intron/ 0.0041 0.5385 0.8180 3 Coenzyme Q10 deficiency, primary, 3 0.000 dominant HG002 HG002 chr6:107630743:ACACTCTGTCT:A 1,.,. -1 -1 -1 -1 -1 -1 SOBP 50_intron 32,.,. 0.40625,.,. SOBP/intron/ 1.0000 0.0835 0.1910 0 Intellectual disability, anterior maxillary protrusion, and strabismus 0.000 dominant HG002 HG002 chr6:107630758:C:G 1,.,. 9.69995e-05 0 3 -1 -1 -1 SOBP 50_intron 30,.,. 0.433333,.,. SOBP/intron/ 1.0000 0.0835 0.1910 0 Intellectual disability, anterior maxillary protrusion, and strabismus 0.000 recessive HG002 HG002 chr6:107710733:G:T 2,.,. -1 -1 -1 -1 -1 -1 SCML4 50_intron 20,.,. 1,.,. SCML4/intron/ 0.0000 0.7951 1.0590 5 recessive HG002 HG002 chr6:107711198:A:C 2,.,. -1 -1 -1 -1 -1 -1 SCML4 50_intron 18,.,. 1,.,. SCML4/intron/ 0.0000 0.7951 1.0590 5 dominant HG002 HG002 chr6:107783455:C:G 1,.,. -1 -1 -1 -1 -1 -1 SCML4 50_intron 32,.,. 0.5625,.,. SCML4/intron/;SCML4/non_coding/ 0.0000 0.7951 1.0590 5 dominant HG002 HG002 chr6:107783607:T:A 1,.,. -1 -1 -1 0.00140154 0 4 SCML4 50_intron 36,.,. 0.583333,.,. SCML4/intron/;SCML4/non_coding/ 0.0000 0.7951 1.0590 5 dominant HG002 HG002 chr6:107783611:T:A 1,.,. -1 -1 -1 -1 -1 -1 SCML4 50_intron 36,.,. 0.583333,.,. SCML4/intron/;SCML4/non_coding/ 0.0000 0.7951 1.0590 5 dominant HG002 HG002 chr6:107899222:C:G 1,.,. 6.57341e-06 0 1 -1 -1 -1 SEC63 50_intron 47,.,. 0.404255,.,. SEC63/intron/;SEC63/non_coding/ 0.9076 0.3584 0.5320 1 Polycystic liver disease 2 0.000 dominant HG002 HG002 chr6:108355104:C:CT 1,.,. -1 -1 -1 0.00105116 1 3 AFG1L 50_intron 38,.,. 0.342105,.,. AFG1L/intron/ 0.0001 0.6868 1.0180 5 dominant HG002 HG002 chr6:108792931:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr6:108991074:AAC:A 1,.,. -1 -1 -1 -1 -1 -1 SESN1 50_intron 40,.,. 0.275,.,. SESN1/intron/;SESN1/non_coding/ 0.0018 0.5028 0.7070 2 dominant HG002 HG002 chr6:109163024:T:A 1,.,. 1.31397e-05 0 2 -1 -1 -1 CEP57L1 36_3_prime_utr 45,.,. 0.666667,.,. CEP57L1/3_prime_utr/ENST00000368968;CEP57L1/3_prime_utr/ENST00000517392;CEP57L1/3_prime_utr/ENST00000359793;CEP57L1/3_prime_utr/ENST00000521522;CEP57L1/3_prime_utr/ENST00000520883;CEP57L1/3_prime_utr/ENST00000523787;CEP57L1/3_prime_utr/ENST00000368970 0.0003 0.6324 0.9490 4 dominant HG002 HG002 chr6:109266233:A:AGC 1,.,. -1 -1 -1 -1 -1 -1 CCDC162P 53_non_coding 46,.,. 0.456522,.,. CCDC162P/non_coding/ dominant HG002 HG002 chr6:109333808:A:C 1,.,. 2.6304e-05 0 4 -1 -1 -1 CCDC162P 53_non_coding 44,.,. 0.568182,.,. CCDC162P/non_coding/ dominant HG002 HG002 chr6:109419305:T:C 1,.,. -1 -1 -1 -1 -1 -1 PPIL6 50_intron 48,.,. 0.416667,.,. PPIL6/intron/;PPIL6/non_coding/ 0.0000 1.1560 1.6410 8 dominant HG002 HG002 chr6:109679976:T:C 1,.,. 2.6294e-05 0 4 -1 -1 -1 AK9 50_intron 43,.,. 0.604651,.,. AK9/intron/ 0.0000 0.7408 0.8480 3 Spermatogenic failure 89 0.000 dominant HG002 HG002 chr6:109812563:GA:G 1,.,. 2.62778e-05 0 4 -1 -1 -1 FIG4 50_intron 39,.,. 0.512821,.,. FIG4/intron/;FIG4/non_coding/ 0.0000 0.7802 0.9660 4 Yunis-Varon syndrome;Charcot-Marie-Tooth disease type 4J;Bilateral parasagittal parieto-occipital polymicrogyria;Amyotrophic lateral sclerosis type 11 0.000 dominant HG002 HG002 chr6:109965404:TACAC:T 1,.,. 1.97158e-05 0 3 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr6:110042793:T:A 1,.,. 1.97065e-05 0 3 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr6:110081788:T:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr6:110157462:C:T 1,.,. -1 -1 -1 -1 -1 -1 WASF1 50_intron 46,.,. 0.456522,.,. WASF1/intron/ 1.0000 0.1605 0.3010 0 Neurodevelopmental disorder with absent language and variable seizures 0.000 dominant HG002 HG002 chr6:110158029:T:C 1,.,. -1 -1 -1 0.000700771 0 2 WASF1 50_intron 42,.,. 0.5,.,. WASF1/intron/ 1.0000 0.1605 0.3010 0 Neurodevelopmental disorder with absent language and variable seizures 0.000 dominant HG002 HG002 chr6:110266663:G:C 1,.,. 2.63276e-05 0 4 -1 -1 -1 METTL24 50_intron 40,.,. 0.6,.,. METTL24/intron/ 0.0000 0.8984 1.2390 7 dominant HG002 HG002 chr6:110359834:C:T 1,.,. 6.5786e-06 0 1 -1 -1 -1 44,.,. 0.431818,.,. dominant HG002 HG002 chr6:110400363:C:A 1,.,. -1 -1 -1 -1 -1 -1 DDO 50_intron 50,.,. 0.54,.,. DDO/intron/ 0.0000 0.8643 1.2820 7 recessive HG002 HG002 chr6:110476205:GCCAGATCTCCAGCC:G 2,.,. -1 -1 -1 -1 -1 -1 SLC22A16 50_intron 37,.,. 1,.,. SLC22A16/intron/;SLC22A16/non_coding/ 0.0000 1.0027 1.2720 7 recessive HG002 HG002 chr6:110476220:A:G 2,.,. -1 -1 -1 -1 -1 -1 SLC22A16 50_intron 37,.,. 1,.,. SLC22A16/intron/;SLC22A16/non_coding/ 0.0000 1.0027 1.2720 7 dominant HG002 HG002 chr6:111317198:C:T 1,.,. -1 -1 -1 -1 -1 -1 MFSD4B;REV3L 50_intron 38,.,. 0.394737,.,. MFSD4B/non_coding/;REV3L/intron/ 0.0043;;1.0000 0.8577;;0.2062 1.5770;;0.2610 8;;0 0.000 dominant HG002 HG002 chr6:111442989:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 MFSD4B;REV3L 50_intron 42,.,. 0.452381,.,. MFSD4B/non_coding/;REV3L/intron/ 0.0043;;1.0000 0.8577;;0.2062 1.5770;;0.2610 8;;0 0.000 dominant HG002 HG002 chr6:111442990:A:T 1,.,. -1 -1 -1 -1 -1 -1 MFSD4B;REV3L 50_intron 42,.,. 0.452381,.,. MFSD4B/non_coding/;REV3L/intron/ 0.0043;;1.0000 0.8577;;0.2062 1.5770;;0.2610 8;;0 0.000 dominant HG002 HG002 chr6:111459655:A:G 1,.,. 1.97156e-05 0 3 -1 -1 -1 REV3L 50_intron 46,.,. 0.565217,.,. REV3L/intron/ 1.0000 0.2062 0.2610 0 0.000 dominant HG002 HG002 chr6:111465269:C:T 1,.,. 1.98928e-05 0 3 -1 -1 -1 REV3L 50_intron 61,.,. 0.557377,.,. REV3L/intron/ 1.0000 0.2062 0.2610 0 0.000 dominant HG002 HG002 chr6:111468739:T:C 1,.,. 6.79094e-05 0 4 -1 -1 -1 REV3L 50_intron 60,.,. 0.633333,.,. REV3L/intron/ 1.0000 0.2062 0.2610 0 0.000 dominant HG002 HG002 chr6:112016962:ATCT:A 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.545455,.,. dominant HG002 HG002 chr6:112201145:G:T 1,.,. 1.97163e-05 0 3 -1 -1 -1 LAMA4 50_intron 49,.,. 0.55102,.,. LAMA4/intron/;LAMA4/non_coding/ 0.0000 0.6025 0.7090 2 Dilated cardiomyopathy 1JJ 0.000 dominant HG002 HG002 chr6:112440233:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.333333,.,. dominant HG002 HG002 chr6:112440234:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.340909,.,. dominant HG002 HG002 chr6:112444634:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr6:112776151:A:C 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.481481,.,. dominant HG002 HG002 chr6:114312055:C:T 1,.,. -1 -1 -1 -1 -1 -1 HS3ST5 50_intron 31,.,. 0.548387,.,. HS3ST5/intron/ 0.3762 0.4005 0.6790 2 dominant HG002 HG002 chr6:114392549:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr6:114392550:A:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr6:114412316:G:T 1,.,. 2.6313e-05 0 4 -1 -1 -1 54,.,. 0.481481,.,. dominant HG002 HG002 chr6:115004725:A:G 1,.,. 2.63158e-05 0 4 -1 -1 -1 46,.,. 0.695652,.,. dominant HG002 HG002 chr6:115078149:A:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.25,.,. dominant HG002 HG002 chr6:115150693:C:T 1,.,. 2.63099e-05 0 4 -1 -1 -1 49,.,. 0.571429,.,. dominant HG002 HG002 chr6:115228532:A:T 1,.,. 2.6295e-05 0 4 -1 -1 -1 46,.,. 0.434783,.,. dominant HG002 HG002 chr6:115362773:T:TGGAACAAAACCAATTTTGTCAGAG 1,.,. 2.62847e-05 0 4 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr6:115627793:T:C 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.462963,.,. dominant HG002 HG002 chr6:115800857:A:G 1,.,. 2.63453e-05 0 4 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr6:116556310:T:A 1,.,. 2.62746e-05 0 4 -1 -1 -1 CALHM4 50_intron 31,.,. 0.580645,.,. CALHM4/intron/ 0.0000 1.0968 1.5510 8 dominant HG002 HG002 chr6:116898412:C:T 1,.,. 1.97205e-05 0 3 -1 -1 -1 RFX6 50_intron 54,.,. 0.481481,.,. RFX6/non_coding/;RFX6/intron/ 0.0001 0.5155 0.6920 2 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 0.000 dominant HG002 HG002 chr6:116944891:TTAC:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr6:116944895:A:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr6:117114402:A:T 1,.,. 6.57117e-06 0 1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr6:117199546:GTAATA:G 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.480769,.,. dominant HG002 HG002 chr6:117199552:C:A 1,.,. 1.37378e-05 0 1 -1 -1 -1 53,.,. 0.490566,.,. dominant HG002 HG002 chr6:117409249:A:AAAC 1,.,. -1 -1 -1 -1 -1 -1 ROS1 50_intron 32,.,. 0.59375,.,. ROS1/intron/ 0.0000 0.8767 0.9930 5 dominant HG002 HG002 chr6:117434282:TAAAAAGGTAAAA:T 1,.,. -1 -1 -1 -1 -1 -1 AL132671.2 50_intron 32,.,. 0.59375,.,. AL132671.2/intron/ dominant HG002 HG002 chr6:117434297:T:G 1,.,. -1 -1 -1 -1 -1 -1 AL132671.2 50_intron 32,.,. 0.59375,.,. AL132671.2/intron/ dominant HG002 HG002 chr6:118375410:T:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr6:118380618:T:C 1,.,. 6.56987e-06 0 1 -1 -1 -1 49,.,. 0.489796,.,. dominant HG002 HG002 chr6:118420418:C:A 1,.,. 2.63085e-05 0 4 -1 -1 -1 50,.,. 0.4,.,. dominant HG002 HG002 chr6:118602939:A:G 1,.,. 2.63546e-05 0 4 -1 -1 -1 CEP85L 50_intron 32,.,. 0.53125,.,. CEP85L/intron/;CEP85L/non_coding/ 0.0001 0.5180 0.6960 2 Lissencephaly 10 0.000 dominant HG002 HG002 chr6:118682726:A:C 1,.,. 6.61096e-06 0 1 -1 -1 -1 CEP85L 50_intron 42,.,. 0.571429,.,. CEP85L/intron/ 0.0001 0.5180 0.6960 2 Lissencephaly 10 0.000 dominant HG002 HG002 chr6:118770513:G:A 1,.,. 1.31361e-05 0 2 -1 -1 -1 SELENOKP3 53_non_coding 43,.,. 0.511628,.,. SELENOKP3/non_coding/ recessive HG002 HG002 chr6:118990589:C:CCAG 2,.,. 0.000175623 0 5 -1 -1 -1 FAM184A 50_intron 40,.,. 1,.,. FAM184A/intron/ 0.0000 0.6509 0.7850 3 recessive HG002 HG002 chr6:118990590:A:G 2,.,. -1 -1 -1 -1 -1 -1 FAM184A 50_intron 41,.,. 1,.,. FAM184A/intron/ 0.0000 0.6509 0.7850 3 recessive HG002 HG002 chr6:118997010:C:CTGTGGGAT 2,.,. -1 -1 -1 -1 -1 -1 FAM184A 50_intron 38,.,. 1,.,. FAM184A/intron/ 0.0000 0.6509 0.7850 3 recessive HG002 HG002 chr6:118997011:A:T 2,.,. -1 -1 -1 -1 -1 -1 FAM184A 50_intron 38,.,. 1,.,. FAM184A/intron/ 0.0000 0.6509 0.7850 3 dominant HG002 HG002 chr6:119265517:A:C 1,.,. 6.57039e-06 0 1 -1 -1 -1 MAN1A1 50_intron 35,.,. 0.485714,.,. MAN1A1/intron/ 0.9666 0.3371 0.5120 1 dominant HG002 HG002 chr6:119530066:T:G 1,.,. 6.57263e-06 0 1 -1 -1 -1 35,.,. 0.4,.,. recessive HG002 HG002 chr6:119655974:ATAGG:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr6:119655979:A:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr6:119669756:C:T 1,.,. 6.57488e-06 0 1 -1 -1 -1 50,.,. 0.54,.,. dominant HG002 HG002 chr6:119755774:TATC:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr6:119755778:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr6:119878175:T:C 1,.,. 6.58848e-06 0 1 -1 -1 -1 58,.,. 0.5,.,. recessive HG002 HG002 chr6:120057240:G:A 2,.,. 6.60258e-06 0 1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr6:120057241:T:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr6:120057242:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr6:120062413:ATTTGTACCC:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr6:120062423:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr6:120340701:T:TACGTATATACATGTATACGTATATACGTATAC 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr6:120667915:T:TTTG 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.333333,.,. dominant HG002 HG002 chr6:120689867:A:G 1,.,. 2.62833e-05 0 4 -1 -1 -1 41,.,. 0.365854,.,. dominant HG002 HG002 chr6:120692866:T:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr6:120692873:G:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. recessive HG002 HG002 chr6:121192063:C:T 2,.,. -1 -1 -1 -1 -1 -1 TBC1D32 50_intron 26,.,. 1,.,. TBC1D32/intron/;TBC1D32/non_coding/ 0.0000 0.8233 0.9840 5 recessive HG002 HG002 chr6:121204101:C:CTGAA 2,.,. -1 -1 -1 -1 -1 -1 TBC1D32 50_intron 33,.,. 1,.,. TBC1D32/intron/;TBC1D32/non_coding/ 0.0000 0.8233 0.9840 5 dominant HG002 HG002 chr6:121269184:C:T 1,.,. 1.31468e-05 0 2 -1 -1 -1 TBC1D32 50_intron 44,.,. 0.568182,.,. TBC1D32/intron/ 0.0000 0.8233 0.9840 5 dominant HG002 HG002 chr6:121478221:T:C 1,.,. 6.59222e-06 0 1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr6:121612399:G:A 1,.,. 1.97226e-05 0 3 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr6:122456364:A:T 1,.,. 1.31415e-05 0 2 -1 -1 -1 SERINC1 50_intron 37,.,. 0.378378,.,. SERINC1/intron/ 0.1537 0.4322 0.6760 2 dominant HG002 HG002 chr6:122623539:G:GT 1,.,. 1.31484e-05 0 2 -1 -1 -1 PKIB 50_intron 50,.,. 0.42,.,. PKIB/intron/;PKIB/non_coding/ 0.4773 0.3186 1.0020 5 dominant HG002 HG002 chr6:122853742:C:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr6:122853744:AAAGTCTGT:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr6:123066356:T:TCTCATACA 1,.,. -1 -1 -1 -1 -1 -1 CLVS2 36_3_prime_utr 40,.,. 0.275,.,. CLVS2/3_prime_utr/ENST00000275162 0.0024 0.6091 0.9680 4 dominant HG002 HG002 chr6:123211211:A:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr6:123225543:C:T 1,.,. 1.1484e-05 0 1 -1 -1 -1 TRDN 50_intron 34,.,. 0.382353,.,. TRDN/intron/ 0.0000 1.1059 1.3590 7 Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5 0.000 dominant HG002 HG002 chr6:123559821:T:C 1,.,. -1 -1 -1 0.00105116 0 3 TRDN 50_intron 42,.,. 0.47619,.,. TRDN/intron/ 0.0000 1.1059 1.3590 7 Catecholaminergic polymorphic ventricular tachycardia 1;Catecholaminergic polymorphic ventricular tachycardia 5 0.000 dominant HG002 HG002 chr6:123658586:AT:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr6:123855460:T:TGACCCA 1,.,. -1 -1 -1 -1 -1 -1 NKAIN2 50_intron 46,.,. 0.565217,.,. NKAIN2/intron/;NKAIN2/non_coding/ 0.2553 0.4301 0.9040 4 dominant HG002 HG002 chr6:123855463:T:A 1,.,. -1 -1 -1 -1 -1 -1 NKAIN2 50_intron 46,.,. 0.565217,.,. NKAIN2/intron/;NKAIN2/non_coding/ 0.2553 0.4301 0.9040 4 dominant HG002 HG002 chr6:123855464:T:G 1,.,. -1 -1 -1 -1 -1 -1 NKAIN2 50_intron 46,.,. 0.565217,.,. NKAIN2/intron/;NKAIN2/non_coding/ 0.2553 0.4301 0.9040 4 dominant HG002 HG002 chr6:123855465:A:T 1,.,. -1 -1 -1 -1 -1 -1 NKAIN2 50_intron 46,.,. 0.565217,.,. NKAIN2/intron/;NKAIN2/non_coding/ 0.2553 0.4301 0.9040 4 dominant HG002 HG002 chr6:124183767:A:C 1,.,. 1.31446e-05 0 2 -1 -1 -1 NKAIN2 50_intron 38,.,. 0.447368,.,. NKAIN2/intron/;NKAIN2/non_coding/ 0.2553 0.4301 0.9040 4 recessive HG002 HG002 chr6:124515724:TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG:T 2,.,. -1 -1 -1 -1 -1 -1 NKAIN2 50_intron 54,.,. 0.981481,.,. NKAIN2/intron/ 0.2553 0.4301 0.9040 4 recessive HG002 HG002 chr6:124515835:C:T 2,.,. -1 -1 -1 -1 -1 -1 NKAIN2 50_intron 55,.,. 1,.,. NKAIN2/intron/ 0.2553 0.4301 0.9040 4 recessive HG002 HG002 chr6:124523156:G:A 2,.,. 0.000156079 3 22 -1 -1 -1 NKAIN2 50_intron 42,.,. 1,.,. NKAIN2/intron/ 0.2553 0.4301 0.9040 4 dominant HG002 HG002 chr6:124565775:C:G 1,.,. 6.57367e-06 0 1 -1 -1 -1 NKAIN2 50_intron 30,.,. 0.5,.,. NKAIN2/intron/ 0.2553 0.4301 0.9040 4 dominant HG002 HG002 chr6:125393358:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr6:125394596:T:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr6:125460858:G:A 1,.,. 1.31461e-05 0 2 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr6:125749595:G:GCGCCGGCTCTTGCGGCCGAGCAGAGTTGCGGCGTGGGAAAGAGCCGCTAGGAGCAGACCGCGCCGC 1,.,. -1 -1 -1 -1 -1 -1 HEY2 50_intron 41,.,. 0.487805,.,. HEY2/intron/ 0.0014 0.7624 1.2920 7 0.000 dominant HG002 HG002 chr6:125776401:G:C 1,.,. 1.31437e-05 0 2 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr6:125965403:T:C 1,.,. 1.31399e-05 0 2 -1 -1 -1 HINT3 50_intron 38,.,. 0.631579,.,. HINT3/intron/ 0.0003 1.1019 1.7840 8 dominant HG002 HG002 chr6:126204571:G:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr6:126204573:C:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr6:126204574:TGTACTTATATGTATG:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr6:126231966:G:A 1,.,. 2.63085e-05 0 4 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr6:126418946:G:A 1,.,. -1 -1 -1 -1 -1 -1 AL356534.1 53_non_coding 39,.,. 0.384615,.,. AL356534.1/non_coding/ dominant HG002 HG002 chr6:126467243:T:C 1,.,. 1.3155e-05 0 2 -1 -1 -1 AL356534.1 53_non_coding 36,.,. 0.555556,.,. AL356534.1/non_coding/ dominant HG002 HG002 chr6:127294830:G:C 1,.,. 1.43096e-05 0 2 -1 -1 -1 ECHDC1 50_intron 43,.,. 0.511628,.,. ECHDC1/intron/;ECHDC1/non_coding/ 0.0000 1.0652 1.4520 8 dominant HG002 HG002 chr6:127328349:T:C 1,.,. 2.62836e-05 0 4 -1 -1 -1 ECHDC1 50_intron 51,.,. 0.490196,.,. ECHDC1/intron/;ECHDC1/non_coding/ 0.0000 1.0652 1.4520 8 dominant HG002 HG002 chr6:127598822:AT:A 1,.,. 8.98392e-06 0 1 -1 -1 -1 50,.,. 0.36,.,. dominant HG002 HG002 chr6:127746891:A:G 1,.,. -1 -1 -1 -1 -1 -1 THEMIS 50_intron 43,.,. 0.511628,.,. THEMIS/intron/ 0.0000 0.6744 0.8940 4 dominant HG002 HG002 chr6:127746892:T:A 1,.,. 6.40738e-05 0 4 -1 -1 -1 THEMIS 50_intron 41,.,. 0.536585,.,. THEMIS/intron/ 0.0000 0.6744 0.8940 4 dominant HG002 HG002 chr6:127746894:A:ATC 1,.,. -1 -1 -1 -1 -1 -1 THEMIS 50_intron 42,.,. 0.52381,.,. THEMIS/intron/ 0.0000 0.6744 0.8940 4 dominant HG002 HG002 chr6:128052426:C:T 1,.,. -1 -1 -1 -1 -1 -1 PTPRK 50_intron 39,.,. 0.435897,.,. PTPRK/intron/;PTPRK/non_coding/ 0.1095 0.4141 0.5100 1 dominant HG002 HG002 chr6:128202108:G:A 1,.,. 1.31418e-05 0 2 -1 -1 -1 PTPRK 50_intron 33,.,. 0.515152,.,. PTPRK/intron/;PTPRK/non_coding/ 0.1095 0.4141 0.5100 1 recessive HG002 HG002 chr6:128352417:GTTGC:G 2,.,. 5.25831e-05 0 8 -1 -1 -1 PTPRK 50_intron 47,.,. 1,.,. PTPRK/intron/;PTPRK/non_coding/ 0.1095 0.4141 0.5100 1 recessive HG002 HG002 chr6:128352422:A:G 2,.,. -1 -1 -1 -1 -1 -1 PTPRK 50_intron 47,.,. 1,.,. PTPRK/intron/;PTPRK/non_coding/ 0.1095 0.4141 0.5100 1 dominant HG002 HG002 chr6:128370095:G:A 1,.,. 6.57765e-06 0 1 -1 -1 -1 PTPRK 50_intron 29,.,. 0.448276,.,. PTPRK/intron/;PTPRK/non_coding/ 0.1095 0.4141 0.5100 1 dominant HG002 HG002 chr6:128685129:G:T 1,.,. 6.57921e-06 0 1 -1 -1 -1 53,.,. 0.509434,.,. dominant HG002 HG002 chr6:128723130:T:C 1,.,. 2.70175e-05 0 2 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr6:128758677:A:ATATG 1,.,. 1.53442e-05 0 2 -1 -1 -1 41,.,. 0.341463,.,. dominant HG002 HG002 chr6:128758679:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr6:129125175:T:C 1,.,. 2.63182e-05 0 4 -1 -1 -1 LAMA2 50_intron 47,.,. 0.553191,.,. LAMA2/intron/ 0.0000 0.7138 0.8010 3 Muscular dystrophy, limb-girdle, autosomal recessive 23;Merosin deficient congenital muscular dystrophy 0.000 dominant HG002 HG002 chr6:129128045:T:C 1,.,. 1.97091e-05 0 3 -1 -1 -1 LAMA2 50_intron 50,.,. 0.62,.,. LAMA2/intron/ 0.0000 0.7138 0.8010 3 Muscular dystrophy, limb-girdle, autosomal recessive 23;Merosin deficient congenital muscular dystrophy 0.000 dominant HG002 HG002 chr6:129326468:A:C 1,.,. -1 -1 -1 -1 -1 -1 LAMA2 50_intron 45,.,. 0.288889,.,. LAMA2/intron/ 0.0000 0.7138 0.8010 3 Muscular dystrophy, limb-girdle, autosomal recessive 23;Merosin deficient congenital muscular dystrophy 0.000 dominant HG002 HG002 chr6:129376010:A:G 1,.,. 1.97189e-05 0 3 -1 -1 -1 LAMA2 50_intron 32,.,. 0.4375,.,. LAMA2/intron/ 0.0000 0.7138 0.8010 3 Muscular dystrophy, limb-girdle, autosomal recessive 23;Merosin deficient congenital muscular dystrophy 0.000 dominant HG002 HG002 chr6:129384993:G:T 1,.,. 2.21625e-05 0 3 -1 -1 -1 LAMA2 50_intron 16,.,. 0.375,.,. LAMA2/intron/ 0.0000 0.7138 0.8010 3 Muscular dystrophy, limb-girdle, autosomal recessive 23;Merosin deficient congenital muscular dystrophy 0.000 recessive HG002 HG002 chr6:129396954:TGACAGTGAGACAATGA:T 2,.,. 6.77782e-05 0 1 -1 -1 -1 LAMA2 50_intron 39,.,. 1,.,. LAMA2/intron/ 0.0000 0.7138 0.8010 3 Muscular dystrophy, limb-girdle, autosomal recessive 23;Merosin deficient congenital muscular dystrophy 0.000 recessive HG002 HG002 chr6:129396982:A:C 2,.,. 0.000164366 0 2 -1 -1 -1 LAMA2 50_intron 39,.,. 1,.,. LAMA2/intron/ 0.0000 0.7138 0.8010 3 Muscular dystrophy, limb-girdle, autosomal recessive 23;Merosin deficient congenital muscular dystrophy 0.000 recessive HG002 HG002 chr6:129396983:G:C 2,.,. 0.000284468 0 3 -1 -1 -1 LAMA2 50_intron 38,.,. 1,.,. LAMA2/intron/ 0.0000 0.7138 0.8010 3 Muscular dystrophy, limb-girdle, autosomal recessive 23;Merosin deficient congenital muscular dystrophy 0.000 dominant HG002 HG002 chr6:129728544:G:T 1,.,. 6.57479e-06 0 1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr6:129759122:A:AGG 1,.,. 6.56935e-06 0 1 -1 -1 -1 49,.,. 0.530612,.,. dominant HG002 HG002 chr6:129843438:G:T 1,.,. 6.58111e-06 0 1 -1 -1 -1 TMEM244 50_intron 50,.,. 0.44,.,. TMEM244/intron/ 0.0004 1.2274 1.8690 9 dominant HG002 HG002 chr6:129843805:A:T 1,.,. -1 -1 -1 -1 -1 -1 TMEM244 50_intron 49,.,. 0.489796,.,. TMEM244/intron/ 0.0004 1.2274 1.8690 9 dominant HG002 HG002 chr6:129877121:A:C 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.396226,.,. dominant HG002 HG002 chr6:129904960:C:CTGTGTGTGTGTCTG 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr6:130029635:A:G 1,.,. 6.57255e-06 0 1 -1 -1 -1 L3MBTL3 50_intron 35,.,. 0.457143,.,. L3MBTL3/intron/ 1.0000 0.1869 0.3260 0 dominant HG002 HG002 chr6:130264841:T:C 1,.,. 6.58979e-06 0 1 -1 -1 -1 SAMD3 50_intron 40,.,. 0.55,.,. SAMD3/intron/;SAMD3/non_coding/ 0.0000 0.9822 1.2920 7 dominant HG002 HG002 chr6:130345653:A:T 1,.,. 6.58328e-06 0 1 -1 -1 -1 SAMD3 50_intron 55,.,. 0.636364,.,. SAMD3/intron/ 0.0000 0.9822 1.2920 7 dominant HG002 HG002 chr6:130428623:C:T 1,.,. 6.57393e-06 0 1 -1 -1 -1 TMEM200A 50_intron 28,.,. 0.428571,.,. TMEM200A/intron/ 0.0617 0.4715 0.7640 3 dominant HG002 HG002 chr6:130994240:T:C 1,.,. 2.62957e-05 0 4 -1 -1 -1 EPB41L2 50_intron 43,.,. 0.55814,.,. EPB41L2/intron/;EPB41L2/non_coding/ 0.7618 0.3908 0.5140 1 dominant HG002 HG002 chr6:131076435:T:C 1,.,. 1.97101e-05 0 3 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr6:131077222:A:G 1,.,. 1.97184e-05 0 3 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr6:131164198:T:C 1,.,. -1 -1 -1 -1 -1 -1 AKAP7 50_intron 51,.,. 0.490196,.,. AKAP7/intron/;AKAP7/non_coding/ 0.0000 0.9522 1.3300 7 dominant HG002 HG002 chr6:131482284:TTTC:T 1,.,. -1 -1 -1 -1 -1 -1 ARG1 50_intron 37,.,. 0.594595,.,. ARG1/non_coding/;ARG1/intron/ 0.0002 0.5785 0.8330 3 Arginase deficiency 0.000 dominant HG002 HG002 chr6:131761080:G:GGCC 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr6:131999711:G:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr6:132050219:C:T 1,.,. 1.97125e-05 0 3 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr6:132309108:T:C 1,.,. -1 -1 -1 -1 -1 -1 MOXD1 50_intron 41,.,. 0.439024,.,. MOXD1/intron/ 0.0000 0.8951 1.1200 6 dominant HG002 HG002 chr6:132475782:A:AACTTTGTTTTCC 1,.,. -1 -1 -1 -1 -1 -1 STX7 50_intron 42,.,. 0.452381,.,. STX7/intron/;STX7/non_coding/ 0.0032 0.5753 0.8990 4 dominant HG002 HG002 chr6:132475784:T:G 1,.,. -1 -1 -1 -1 -1 -1 STX7 50_intron 41,.,. 0.463415,.,. STX7/intron/;STX7/non_coding/ 0.0032 0.5753 0.8990 4 dominant HG002 HG002 chr6:132475785:A:T 1,.,. -1 -1 -1 -1 -1 -1 STX7 50_intron 42,.,. 0.452381,.,. STX7/intron/;STX7/non_coding/ 0.0032 0.5753 0.8990 4 dominant HG002 HG002 chr6:132482094:C:T 1,.,. 2.63328e-05 0 4 -1 -1 -1 STX7 50_intron 46,.,. 0.5,.,. STX7/intron/;STX7/non_coding/ 0.0032 0.5753 0.8990 4 dominant HG002 HG002 chr6:132602538:C:A 1,.,. 2.62943e-05 0 4 -1 -1 -1 29,.,. 0.689655,.,. dominant HG002 HG002 chr6:132651928:C:A 1,.,. 2.62829e-05 0 4 -1 -1 -1 51,.,. 0.568627,.,. dominant HG002 HG002 chr6:132925114:T:TTATATATA 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.257143,.,. dominant HG002 HG002 chr6:133139073:A:T 1,.,. 2.62971e-05 0 4 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr6:133145707:C:T 1,.,. -1 -1 -1 0.000700771 0 2 29,.,. 0.37931,.,. dominant HG002 HG002 chr6:133145729:C:G 1,.,. -1 -1 -1 0.000700771 0 2 30,.,. 0.4,.,. dominant HG002 HG002 chr6:133454385:A:G 1,.,. -1 -1 -1 -1 -1 -1 EYA4 50_intron 55,.,. 0.581818,.,. EYA4/intron/;EYA4/non_coding/ 0.8635 0.3686 0.5360 1 Dilated cardiomyopathy 1J;Autosomal dominant nonsyndromic hearing loss 10;Primary dilated cardiomyopathy 0.000 dominant HG002 HG002 chr6:134018206:A:G 1,.,. 1.97163e-05 0 3 -1 -1 -1 SLC2A12 50_intron 55,.,. 0.363636,.,. SLC2A12/intron/ 0.0000 0.6133 0.8360 3 dominant HG002 HG002 chr6:134235539:A:ATATT 1,.,. -1 -1 -1 -1 -1 -1 SGK1 50_intron 39,.,. 0.384615,.,. SGK1/intron/;SGK1/non_coding/ 0.0021 0.5050 0.7160 2 dominant HG002 HG002 chr6:134271536:C:A 1,.,. -1 -1 -1 -1 -1 -1 SGK1 50_intron 39,.,. 0.410256,.,. SGK1/intron/ 0.0021 0.5050 0.7160 2 dominant HG002 HG002 chr6:134386404:G:A 1,.,. 1.97068e-05 0 3 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr6:134396085:T:TTTCCTTTCTTTTCCC 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.5,.,. dominant HG002 HG002 chr6:134436258:T:C 1,.,. 6.56927e-06 0 1 -1 -1 -1 39,.,. 0.384615,.,. dominant HG002 HG002 chr6:134701262:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr6:134701264:C:T 1,.,. 2.02257e-05 0 1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr6:134701266:A:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr6:134701267:T:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr6:134767751:G:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.411765,.,. recessive HG002 HG002 chr6:134908060:T:TTA 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr6:135168232:G:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr6:135168233:A:AGACTATTTTAGACTAT 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr6:135504443:A:G 1,.,. 1.31428e-05 0 2 -1 -1 -1 50,.,. 0.46,.,. dominant HG002 HG002 chr6:135541510:C:T 1,.,. 6.57091e-06 0 1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr6:135554122:T:A 1,.,. 1.31437e-05 0 2 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr6:135568187:A:G 1,.,. 6.57877e-06 0 1 -1 -1 -1 52,.,. 0.5,.,. dominant HG002 HG002 chr6:135650116:A:ATATATC 1,.,. 3.09559e-05 0 2 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr6:135945068:C:G 1,.,. 1.50975e-05 0 1 -1 -1 -1 PDE7B 50_intron 37,.,. 0.378378,.,. PDE7B/intron/ 0.1923 0.4392 0.7920 3 dominant HG002 HG002 chr6:135945069:T:G 1,.,. 1.50948e-05 0 1 -1 -1 -1 PDE7B 50_intron 37,.,. 0.378378,.,. PDE7B/intron/ 0.1923 0.4392 0.7920 3 dominant HG002 HG002 chr6:135958539:T:TGTCTTAGCAAC 1,.,. -1 -1 -1 -1 -1 -1 PDE7B 50_intron 38,.,. 0.394737,.,. PDE7B/intron/ 0.1923 0.4392 0.7920 3 dominant HG002 HG002 chr6:135958540:C:T 1,.,. -1 -1 -1 -1 -1 -1 PDE7B 50_intron 38,.,. 0.394737,.,. PDE7B/intron/ 0.1923 0.4392 0.7920 3 dominant HG002 HG002 chr6:136434758:A:T 1,.,. -1 -1 -1 -1 -1 -1 MAP7 50_intron 49,.,. 0.44898,.,. MAP7/intron/ 0.0000 0.5855 0.7490 3 dominant HG002 HG002 chr6:136574402:T:G 1,.,. 2.62781e-05 0 4 -1 -1 -1 MAP3K5 50_intron 43,.,. 0.465116,.,. MAP3K5/intron/ 0.9999 0.3253 0.4330 1 dominant HG002 HG002 chr6:136884626:TTTGAAA:T 1,.,. -1 -1 -1 -1 -1 -1 PEX7 50_intron 51,.,. 0.470588,.,. PEX7/intron/ 0.0018 0.6020 0.9410 4 Rhizomelic chondrodysplasia punctata type 1;Phytanic acid storage disease;Peroxisome biogenesis disorder 9B 0.000 dominant HG002 HG002 chr6:136884635:C:T 1,.,. -1 -1 -1 -1 -1 -1 PEX7 50_intron 51,.,. 0.470588,.,. PEX7/intron/ 0.0018 0.6020 0.9410 4 Rhizomelic chondrodysplasia punctata type 1;Phytanic acid storage disease;Peroxisome biogenesis disorder 9B 0.000 dominant HG002 HG002 chr6:136930396:T:TTGCCCCA 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.409091,.,. dominant HG002 HG002 chr6:136940489:C:G 1,.,. 1.97122e-05 0 3 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr6:137186059:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr6:137186060:A:AAGAAACCTCTTGTTCTT 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr6:137401003:G:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr6:139215255:G:GCA 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr6:139215256:A:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr6:139397208:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.357143,.,. dominant HG002 HG002 chr6:140195373:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. recessive HG002 HG002 chr6:140458713:TGTAAATACAC:T 2,.,. 0.00403226 0 1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr6:140674169:C:T 1,.,. 1.97228e-05 0 3 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr6:140995013:C:A 1,.,. 1.98415e-05 0 3 -1 -1 -1 46,.,. 0.434783,.,. dominant HG002 HG002 chr6:141025019:G:GACA 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.638889,.,. dominant HG002 HG002 chr6:141026142:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.615385,.,. recessive HG002 HG002 chr6:142115619:C:CCTACACTACA 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr6:142115622:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr6:142115623:A:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. dominant HG002 HG002 chr6:142251955:G:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr6:142336214:A:T 1,.,. 2.63106e-05 0 4 -1 -1 -1 ADGRG6 50_intron 44,.,. 0.681818,.,. ADGRG6/intron/;ADGRG6/non_coding/ 0.1654 0.4246 0.6300 2 Lethal congenital contracture syndrome 9 0.000 dominant HG002 HG002 chr6:142360592:C:A 1,.,. -1 -1 -1 -1 -1 -1 ADGRG6 50_intron 51,.,. 0.392157,.,. ADGRG6/intron/;ADGRG6/non_coding/ 0.1654 0.4246 0.6300 2 Lethal congenital contracture syndrome 9 0.000 dominant HG002 HG002 chr6:142360593:T:C 1,.,. -1 -1 -1 -1 -1 -1 ADGRG6 50_intron 50,.,. 0.4,.,. ADGRG6/intron/;ADGRG6/non_coding/ 0.1654 0.4246 0.6300 2 Lethal congenital contracture syndrome 9 0.000 dominant HG002 HG002 chr6:142360594:G:A 1,.,. -1 -1 -1 -1 -1 -1 ADGRG6 50_intron 50,.,. 0.38,.,. ADGRG6/intron/;ADGRG6/non_coding/ 0.1654 0.4246 0.6300 2 Lethal congenital contracture syndrome 9 0.000 dominant HG002 HG002 chr6:142360595:T:G 1,.,. -1 -1 -1 -1 -1 -1 ADGRG6 50_intron 50,.,. 0.4,.,. ADGRG6/intron/;ADGRG6/non_coding/ 0.1654 0.4246 0.6300 2 Lethal congenital contracture syndrome 9 0.000 dominant HG002 HG002 chr6:143049735:G:C 1,.,. 1.97101e-05 0 3 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr6:143496333:TTTTGAACCAAAAA:T 1,.,. -1 -1 -1 -1 -1 -1 VDAC1P8;FUCA2 50_intron 53,.,. 0.490566,.,. VDAC1P8/non_coding/;FUCA2/intron/ 0.0000 0.7685 1.0150 5 dominant HG002 HG002 chr6:143496347:C:A 1,.,. -1 -1 -1 -1 -1 -1 VDAC1P8;FUCA2 50_intron 54,.,. 0.481481,.,. VDAC1P8/non_coding/;FUCA2/intron/ 0.0000 0.7685 1.0150 5 dominant HG002 HG002 chr6:143618285:A:ACACG 1,.,. 2.94916e-05 0 3 -1 -1 -1 PHACTR2 50_intron 38,.,. 0.421053,.,. PHACTR2/intron/ 0.3149 0.4083 0.5990 2 dominant HG002 HG002 chr6:144089451:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.44,.,. dominant HG002 HG002 chr6:144130637:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr6:144130638:G:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr6:144130639:G:GAGAA 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr6:144205552:G:C 1,.,. 1.97228e-05 0 3 -1 -1 -1 57,.,. 0.578947,.,. dominant HG002 HG002 chr6:144372549:C:T 1,.,. 2.63453e-05 0 4 -1 -1 -1 UTRN 50_intron 31,.,. 0.451613,.,. UTRN/intron/ 0.0000 0.6012 0.6650 2 dominant HG002 HG002 chr6:144390989:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 UTRN 50_intron 29,.,. 0.413793,.,. UTRN/intron/ 0.0000 0.6012 0.6650 2 dominant HG002 HG002 chr6:144390996:T:A 1,.,. -1 -1 -1 -1 -1 -1 UTRN 50_intron 29,.,. 0.413793,.,. UTRN/intron/ 0.0000 0.6012 0.6650 2 dominant HG002 HG002 chr6:144390999:TAACAATTAGTCATTTA:T 1,.,. 8.70928e-05 0 1 -1 -1 -1 UTRN 50_intron 29,.,. 0.413793,.,. UTRN/intron/ 0.0000 0.6012 0.6650 2 dominant HG002 HG002 chr6:144471057:A:AGGGGGGTGAGGGGGT 1,.,. 0.000139795 0 3 -1 -1 -1 UTRN 50_intron 35,.,. 0.314286,.,. UTRN/intron/ 0.0000 0.6012 0.6650 2 dominant HG002 HG002 chr6:144633306:T:G 1,.,. 2.00027e-05 0 3 -1 -1 -1 UTRN 50_intron 51,.,. 0.529412,.,. UTRN/intron/ 0.0000 0.6012 0.6650 2 dominant HG002 HG002 chr6:144684526:GT:G 1,.,. 1.97189e-05 0 3 -1 -1 -1 UTRN 50_intron 37,.,. 0.459459,.,. UTRN/intron/ 0.0000 0.6012 0.6650 2 dominant HG002 HG002 chr6:144699639:T:A 1,.,. 1.98965e-05 0 3 -1 -1 -1 UTRN 50_intron 38,.,. 0.447368,.,. UTRN/intron/ 0.0000 0.6012 0.6650 2 dominant HG002 HG002 chr6:145000503:A:G 1,.,. 1.97257e-05 0 3 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr6:145015113:A:G 1,.,. 1.97402e-05 0 3 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr6:145023843:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.342105,.,. dominant HG002 HG002 chr6:145103439:GTCA:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr6:145103443:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr6:145175718:C:T 1,.,. 1.97319e-05 0 3 -1 -1 -1 36,.,. 0.361111,.,. dominant HG002 HG002 chr6:145376432:G:A 1,.,. 1.97986e-05 0 3 -1 -1 -1 48,.,. 0.375,.,. dominant HG002 HG002 chr6:145944500:GGTCGAACA:G 1,.,. -1 -1 -1 -1 -1 -1 SHPRH 50_intron 41,.,. 0.560976,.,. SHPRH/intron/ 0.0000 0.4996 0.5950 2 dominant HG002 HG002 chr6:145944510:G:C 1,.,. -1 -1 -1 -1 -1 -1 SHPRH 50_intron 41,.,. 0.560976,.,. SHPRH/intron/ 0.0000 0.4996 0.5950 2 dominant HG002 HG002 chr6:146040117:C:A 1,.,. 1.97853e-05 0 3 -1 -1 -1 GRM1 50_intron 41,.,. 0.609756,.,. GRM1/non_coding/;GRM1/intron/ 1.0000 0.3004 0.4170 1 Spinocerebellar ataxia 44;Autosomal recessive spinocerebellar ataxia 13 0.000 dominant HG002 HG002 chr6:146197825:A:G 1,.,. 1.97104e-05 0 3 -1 -1 -1 GRM1 50_intron 36,.,. 0.694444,.,. GRM1/intron/ 1.0000 0.3004 0.4170 1 Spinocerebellar ataxia 44;Autosomal recessive spinocerebellar ataxia 13 0.000 dominant HG002 HG002 chr6:146314527:T:C 1,.,. 1.97083e-05 0 3 -1 -1 -1 GRM1 50_intron 50,.,. 0.52,.,. GRM1/intron/ 1.0000 0.3004 0.4170 1 Spinocerebellar ataxia 44;Autosomal recessive spinocerebellar ataxia 13 0.000 dominant HG002 HG002 chr6:146496371:A:AATGCTGC 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr6:146496373:A:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr6:146501842:A:G 1,.,. 2.63009e-05 0 4 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr6:146568299:C:A 1,.,. 2.41756e-05 0 3 -1 -1 -1 47,.,. 0.404255,.,. dominant HG002 HG002 chr6:146668335:G:A 1,.,. -1 -1 -1 -1 -1 -1 ADGB 50_intron 52,.,. 0.461538,.,. ADGB/intron/;ADGB/non_coding/ 0.0000 0.8084 0.9410 4 recessive HG002 HG002 chr6:146819280:A:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr6:146820714:TGTGAG:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr6:146820720:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr6:146912121:C:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.404255,.,. dominant HG002 HG002 chr6:146995523:C:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr6:147093311:G:A 1,.,. 1.97215e-05 0 3 -1 -1 -1 48,.,. 0.645833,.,. dominant HG002 HG002 chr6:147109682:C:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.5,.,. dominant HG002 HG002 chr6:147477560:AGTGT:A 1,.,. 1.31399e-05 0 2 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr6:147484495:T:C 1,.,. 6.57384e-06 0 1 -1 -1 -1 43,.,. 0.55814,.,. dominant HG002 HG002 chr6:147677939:T:A 1,.,. -1 -1 -1 0.000700771 0 2 SAMD5 50_intron 27,.,. 0.62963,.,. SAMD5/intron/ 0.0009 1.0460 1.7600 8 dominant HG002 HG002 chr6:147763983:G:A 1,.,. 1.31401e-05 0 2 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr6:148096963:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr6:148164185:A:C 1,.,. 1.31408e-05 0 2 -1 -1 -1 44,.,. 0.522727,.,. recessive HG002 HG002 chr6:148179622:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr6:148242266:G:C 1,.,. 6.57471e-06 0 1 0.000700771 0 2 46,.,. 0.543478,.,. dominant HG002 HG002 chr6:148387643:T:C 1,.,. -1 -1 -1 0.00140154 1 4 SASH1 50_intron 27,.,. 0.481481,.,. SASH1/non_coding/;SASH1/intron/ 1.0000 0.3050 0.4120 1 Dyschromatosis universalis hereditaria 1;Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma 0.000 dominant HG002 HG002 chr6:148403411:A:G 1,.,. -1 -1 -1 -1 -1 -1 SASH1 50_intron 31,.,. 0.548387,.,. SASH1/non_coding/;SASH1/intron/ 1.0000 0.3050 0.4120 1 Dyschromatosis universalis hereditaria 1;Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma 0.000 dominant HG002 HG002 chr6:148524101:A:T 1,.,. -1 -1 -1 -1 -1 -1 SASH1 50_intron 34,.,. 0.382353,.,. SASH1/intron/ 1.0000 0.3050 0.4120 1 Dyschromatosis universalis hereditaria 1;Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma 0.000 dominant HG002 HG002 chr6:148710703:T:C 1,.,. 4.01735e-05 0 1 -1 -1 -1 31,.,. 0.451613,.,. recessive HG002 HG002 chr6:148710725:T:C 2,.,. 0.00257382 0 53 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr6:148882751:A:G 1,.,. -1 -1 -1 -1 -1 -1 UST 50_intron 32,.,. 0.59375,.,. UST/intron/ 0.0140 0.4850 0.7190 2 dominant HG002 HG002 chr6:148892580:A:T 1,.,. 2.62867e-05 0 4 -1 -1 -1 UST 50_intron 27,.,. 0.444444,.,. UST/intron/ 0.0140 0.4850 0.7190 2 dominant HG002 HG002 chr6:149090374:TAC:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr6:149090377:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. recessive HG002 HG002 chr6:149275139:T:A 2,.,. -1 -1 -1 0.0161177 0 46 TAB2 50_intron 43,.,. 1,.,. TAB2/intron/ 1.0000 0.0453 0.1170 0 Congenital heart defects, multiple types, 2 0.000 dominant HG002 HG002 chr6:149689385:T:C 1,.,. 2.6488e-05 0 4 -1 -1 -1 LATS1 50_intron 46,.,. 0.5,.,. LATS1/intron/;LATS1/non_coding/ 1.0000 0.2215 0.3190 0 dominant HG002 HG002 chr6:149762772:T:A 1,.,. -1 -1 -1 -1 -1 -1 PCMT1 50_intron 26,.,. 0.653846,.,. PCMT1/intron/ 0.7299 0.2775 0.7170 2 dominant HG002 HG002 chr6:149779242:ATGTAAAAC:A 1,.,. -1 -1 -1 -1 -1 -1 PCMT1 50_intron 34,.,. 0.441176,.,. PCMT1/intron/ 0.7299 0.2775 0.7170 2 dominant HG002 HG002 chr6:149779251:A:G 1,.,. -1 -1 -1 -1 -1 -1 PCMT1 50_intron 34,.,. 0.441176,.,. PCMT1/intron/ 0.7299 0.2775 0.7170 2 dominant HG002 HG002 chr6:149787271:A:AGAGAGGGAGACCGTGGG 1,.,. -1 -1 -1 -1 -1 -1 PCMT1 50_intron 35,.,. 0.428571,.,. PCMT1/intron/ 0.7299 0.2775 0.7170 2 recessive HG002 HG002 chr6:149802615:G:T 2,.,. 0.002625 2 105 0.0024527 1 7 PCMT1 50_intron 34,.,. 1,.,. PCMT1/intron/ 0.7299 0.2775 0.7170 2 dominant HG002 HG002 chr6:150117034:C:CTTTATTTATTTA 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr6:150229376:G:A 1,.,. 6.57454e-06 0 1 -1 -1 -1 PPP1R14C 50_intron 41,.,. 0.512195,.,. PPP1R14C/intron/ 0.0000 1.1373 1.7610 8 dominant HG002 HG002 chr6:150503007:T:TTATATAATTAATATATA 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr6:150503010:A:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr6:150513710:TAAAG:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr6:151081512:A:T 1,.,. -1 -1 -1 -1 -1 -1 MTHFD1L 50_intron 23,.,. 0.652174,.,. MTHFD1L/intron/ 0.0000 0.6960 0.8560 3 dominant HG002 HG002 chr6:151085012:TTTATATATGTATATACAC:T 1,.,. -1 -1 -1 0.000700771 0 2 MTHFD1L 50_intron 24,.,. 0.333333,.,. MTHFD1L/intron/ 0.0000 0.6960 0.8560 3 dominant HG002 HG002 chr6:151214512:A:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.59375,.,. dominant HG002 HG002 chr6:151704950:C:T 1,.,. -1 -1 -1 -1 -1 -1 ESR1 50_intron 48,.,. 0.583333,.,. ESR1/non_coding/;ESR1/intron/ 0.9980 0.2961 0.4560 1 Estrogen resistance syndrome;Myocardial infarction, susceptibility to;Familial cancer of breast;Migraine with or without aura, susceptibility to, 1 0.000 dominant HG002 HG002 chr6:151704951:T:G 1,.,. -1 -1 -1 -1 -1 -1 ESR1 50_intron 48,.,. 0.583333,.,. ESR1/non_coding/;ESR1/intron/ 0.9980 0.2961 0.4560 1 Estrogen resistance syndrome;Myocardial infarction, susceptibility to;Familial cancer of breast;Migraine with or without aura, susceptibility to, 1 0.000 dominant HG002 HG002 chr6:151704952:T:A 1,.,. -1 -1 -1 -1 -1 -1 ESR1 50_intron 48,.,. 0.583333,.,. ESR1/non_coding/;ESR1/intron/ 0.9980 0.2961 0.4560 1 Estrogen resistance syndrome;Myocardial infarction, susceptibility to;Familial cancer of breast;Migraine with or without aura, susceptibility to, 1 0.000 dominant HG002 HG002 chr6:151704953:C:A 1,.,. -1 -1 -1 0.000700771 0 2 ESR1 50_intron 48,.,. 0.583333,.,. ESR1/non_coding/;ESR1/intron/ 0.9980 0.2961 0.4560 1 Estrogen resistance syndrome;Myocardial infarction, susceptibility to;Familial cancer of breast;Migraine with or without aura, susceptibility to, 1 0.000 dominant HG002 HG002 chr6:151704954:A:G 1,.,. -1 -1 -1 -1 -1 -1 ESR1 50_intron 48,.,. 0.583333,.,. ESR1/non_coding/;ESR1/intron/ 0.9980 0.2961 0.4560 1 Estrogen resistance syndrome;Myocardial infarction, susceptibility to;Familial cancer of breast;Migraine with or without aura, susceptibility to, 1 0.000 dominant HG002 HG002 chr6:151848505:G:A 1,.,. -1 -1 -1 -1 -1 -1 ESR1 50_intron 35,.,. 0.457143,.,. ESR1/intron/ 0.9980 0.2961 0.4560 1 Estrogen resistance syndrome;Myocardial infarction, susceptibility to;Familial cancer of breast;Migraine with or without aura, susceptibility to, 1 0.000 dominant HG002 HG002 chr6:152192314:G:GATCTGTTTATTTTCTGT 1,.,. -1 -1 -1 -1 -1 -1 SYNE1 50_intron 40,.,. 0.45,.,. SYNE1/intron/;SYNE1/non_coding/ 0.0000 0.5273 0.5640 1 Autosomal recessive ataxia, Beauce type;Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0.000 dominant HG002 HG002 chr6:152192315:G:T 1,.,. -1 -1 -1 -1 -1 -1 SYNE1 50_intron 40,.,. 0.45,.,. SYNE1/intron/;SYNE1/non_coding/ 0.0000 0.5273 0.5640 1 Autosomal recessive ataxia, Beauce type;Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0.000 dominant HG002 HG002 chr6:152226319:TCACCTAC:T 1,.,. -1 -1 -1 -1 -1 -1 SYNE1 50_intron 34,.,. 0.529412,.,. SYNE1/intron/;SYNE1/non_coding/ 0.0000 0.5273 0.5640 1 Autosomal recessive ataxia, Beauce type;Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0.000 dominant HG002 HG002 chr6:152226328:C:T 1,.,. -1 -1 -1 -1 -1 -1 SYNE1 50_intron 34,.,. 0.529412,.,. SYNE1/intron/;SYNE1/non_coding/ 0.0000 0.5273 0.5640 1 Autosomal recessive ataxia, Beauce type;Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0.000 dominant HG002 HG002 chr6:152411729:C:CCAA 1,.,. -1 -1 -1 -1 -1 -1 SYNE1 50_intron 40,.,. 0.575,.,. SYNE1/intron/;SYNE1/non_coding/ 0.0000 0.5273 0.5640 1 Autosomal recessive ataxia, Beauce type;Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0.000 dominant HG002 HG002 chr6:152414000:ATATATATACTT:A 1,.,. -1 -1 -1 -1 -1 -1 SYNE1 50_intron 36,.,. 0.527778,.,. SYNE1/intron/;SYNE1/non_coding/ 0.0000 0.5273 0.5640 1 Autosomal recessive ataxia, Beauce type;Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0.000 dominant HG002 HG002 chr6:152585718:A:G 1,.,. -1 -1 -1 -1 -1 -1 SYNE1 50_intron 36,.,. 0.444444,.,. SYNE1/intron/;SYNE1/non_coding/ 0.0000 0.5273 0.5640 1 Autosomal recessive ataxia, Beauce type;Arthrogryposis multiplex congenita 3, myogenic type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0.000 dominant HG002 HG002 chr6:153118745:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 RGS17 50_intron 37,.,. 0.459459,.,. RGS17/intron/ 0.7437 0.2739 0.7080 2 dominant HG002 HG002 chr6:153118747:T:A 1,.,. -1 -1 -1 -1 -1 -1 RGS17 50_intron 37,.,. 0.459459,.,. RGS17/intron/ 0.7437 0.2739 0.7080 2 recessive HG002 HG002 chr6:153231861:CAGCAGT:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr6:153231868:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr6:153285089:G:GCT 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr6:153285090:T:C 2,.,. 1.32174e-05 0 2 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr6:153305518:T:TGACA 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr6:153305519:C:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr6:153508989:T:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr6:153508990:ATAAAATTC:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr6:153653264:GTCATAAACA:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr6:153653274:G:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.511111,.,. dominant HG002 HG002 chr6:153717208:T:TCCTTCTCGAC 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr6:153717209:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr6:153800987:AAACTCAGG:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr6:153800997:G:C 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.411765,.,. dominant HG002 HG002 chr6:153953161:G:GATCAAGGCA 1,.,. 6.6045e-06 0 1 -1 -1 -1 53,.,. 0.603774,.,. dominant HG002 HG002 chr6:153953164:A:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.607843,.,. dominant HG002 HG002 chr6:153953165:A:G 1,.,. 6.60101e-06 0 1 -1 -1 -1 52,.,. 0.615385,.,. dominant HG002 HG002 chr6:154099284:A:AAAGGAAGG 1,.,. -1 -1 -1 -1 -1 -1 OPRM1 50_intron 39,.,. 0.487179,.,. OPRM1/intron/;OPRM1/non_coding/ 0.0000 0.7696 1.0820 5 dominant HG002 HG002 chr6:154207568:G:T 1,.,. -1 -1 -1 -1 -1 -1 OPRM1;IPCEF1 50_intron 37,.,. 0.540541,.,. OPRM1/intron/;IPCEF1/non_coding/ 0.0000;;0.0784 0.7696;;0.4501 1.0820;;0.6930 5;;2 dominant HG002 HG002 chr6:154368168:GGGT:G 1,.,. -1 -1 -1 -1 -1 -1 AL357075.4 50_intron 34,.,. 0.5,.,. AL357075.4/intron/ dominant HG002 HG002 chr6:154368172:G:A 1,.,. -1 -1 -1 -1 -1 -1 AL357075.4 50_intron 34,.,. 0.5,.,. AL357075.4/intron/ dominant HG002 HG002 chr6:154474424:A:G 1,.,. -1 -1 -1 -1 -1 -1 AL357075.4 50_intron 29,.,. 0.344828,.,. AL357075.4/intron/ dominant HG002 HG002 chr6:154474425:G:T 1,.,. -1 -1 -1 -1 -1 -1 AL357075.4 50_intron 32,.,. 0.3125,.,. AL357075.4/intron/ dominant HG002 HG002 chr6:154922515:A:AAAG 1,.,. 0.000105211 0 3 -1 -1 -1 TIAM2 50_intron 32,.,. 0.4375,.,. TIAM2/intron/;TIAM2/non_coding/ 0.0000 0.4711 0.5720 1 dominant HG002 HG002 chr6:155029012:A:G 1,.,. -1 -1 -1 0.00105116 0 3 TIAM2 50_intron 31,.,. 0.483871,.,. TIAM2/intron/;TIAM2/non_coding/ 0.0000 0.4711 0.5720 1 dominant HG002 HG002 chr6:155099222:G:A 1,.,. -1 -1 -1 0.000700771 0 2 TIAM2 50_intron 34,.,. 0.558824,.,. TIAM2/intron/ 0.0000 0.4711 0.5720 1 dominant HG002 HG002 chr6:155731657:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr6:155731659:A:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr6:155731660:G:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr6:155875026:G:A 1,.,. 4.88647e-05 0 3 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr6:155875029:ATGAT:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr6:155917064:C:T 1,.,. 6.57756e-06 0 1 -1 -1 -1 43,.,. 0.465116,.,. recessive HG002 HG002 chr6:156053243:AGGTGTGAATT:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr6:156053255:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr6:156462774:C:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5625,.,. dominant HG002 HG002 chr6:156840779:T:A 1,.,. -1 -1 -1 -1 -1 -1 ARID1B 50_intron 46,.,. 0.434783,.,. ARID1B/intron/;ARID1B/non_coding/ 1.0000 0.1506 0.2050 0 Coffin-Siris syndrome 1 0.000 dominant HG002 HG002 chr6:156840780:T:G 1,.,. -1 -1 -1 -1 -1 -1 ARID1B 50_intron 46,.,. 0.434783,.,. ARID1B/intron/;ARID1B/non_coding/ 1.0000 0.1506 0.2050 0 Coffin-Siris syndrome 1 0.000 dominant HG002 HG002 chr6:156880775:G:A 1,.,. -1 -1 -1 0.00140154 0 4 ARID1B 50_intron 46,.,. 0.521739,.,. ARID1B/intron/;ARID1B/non_coding/ 1.0000 0.1506 0.2050 0 Coffin-Siris syndrome 1 0.000 dominant HG002 HG002 chr6:156893060:T:G 1,.,. -1 -1 -1 -1 -1 -1 ARID1B 50_intron 38,.,. 0.710526,.,. ARID1B/intron/;ARID1B/non_coding/ 1.0000 0.1506 0.2050 0 Coffin-Siris syndrome 1 0.000 dominant HG002 HG002 chr6:156934778:G:A 1,.,. -1 -1 -1 -1 -1 -1 ARID1B 50_intron 42,.,. 0.452381,.,. ARID1B/intron/;ARID1B/non_coding/ 1.0000 0.1506 0.2050 0 Coffin-Siris syndrome 1 0.000 recessive HG002 HG002 chr6:157279319:A:G 2,.,. -1 -1 -1 0.00105116 1 3 25,.,. 1,.,. dominant HG002 HG002 chr6:157286305:T:C 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.444444,.,. dominant HG002 HG002 chr6:157364334:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.264706,.,. recessive HG002 HG002 chr6:158081637:T:C 2,.,. 0.000441956 0 6 -1 -1 -1 SYNJ2 50_intron 34,.,. 1,.,. SYNJ2/intron/;SYNJ2/non_coding/ 0.0000 0.8246 0.9680 4 dominant HG002 HG002 chr6:158487172:G:T 1,.,. -1 -1 -1 -1 -1 -1 TULP4 50_intron 28,.,. 0.607143,.,. TULP4/intron/ 1.0000 0.1287 0.1950 0 dominant HG002 HG002 chr6:158636100:G:A 1,.,. 0.000177557 0 3 -1 -1 -1 32,.,. 0.46875,.,. recessive HG002 HG002 chr6:158705323:GA:G 2,.,. -1 -1 -1 0.015417 3 44 SYTL3 50_intron 33,.,. 1,.,. SYTL3/intron/ 0.0000 1.1042 1.3420 7 dominant HG002 HG002 chr6:159653156:CTATACATATATG:C 1,.,. -1 -1 -1 0.000700771 0 2 39,.,. 0.461538,.,. dominant HG002 HG002 chr6:160259692:A:G 1,.,. 6.63949e-06 0 1 -1 -1 -1 SLC22A2 35_5_prime_utr 31,.,. 0.677419,.,. SLC22A2/5_prime_utr/ENST00000366952 0.0000 0.8051 1.1170 6 dominant HG002 HG002 chr6:160578804:C:T 1,.,. -1 -1 -1 -1 -1 -1 LPA 50_intron 31,.,. 0.516129,.,. LPA/intron/ 0.0000 1.0497 1.1830 6 LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS dominant HG002 HG002 chr6:160653946:T:TA 1,.,. -1 -1 -1 -1 -1 -1 LPA 50_intron 38,.,. 0.342105,.,. LPA/intron/ 0.0000 1.0497 1.1830 6 LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS dominant HG002 HG002 chr6:160724192:A:G 1,.,. -1 -1 -1 -1 -1 -1 PLG 50_intron 45,.,. 0.577778,.,. PLG/intron/;PLG/non_coding/ 0.1667 0.4165 0.5590 1 Angioedema, hereditary, 4;Plasminogen deficiency, type I 0.000 dominant HG002 HG002 chr6:160783635:A:G 1,.,. 6.99134e-06 0 1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr6:160844989:C:T 1,.,. 1.73388e-05 0 1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr6:160856010:G:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr6:160910852:T:G 1,.,. -1 -1 -1 -1 -1 -1 AL391361.1 53_non_coding 36,.,. 0.5,.,. AL391361.1/non_coding/ recessive HG002 HG002 chr6:160993856:T:TGAC 2,.,. -1 -1 -1 -1 -1 -1 MAP3K4 50_intron 40,.,. 1,.,. MAP3K4/intron/ 1.0000 0.3501 0.4370 1 dominant HG002 HG002 chr6:161020675:C:A 1,.,. -1 -1 -1 -1 -1 -1 MAP3K4 50_intron 32,.,. 0.40625,.,. MAP3K4/intron/ 1.0000 0.3501 0.4370 1 dominant HG002 HG002 chr6:161181510:C:G 1,.,. -1 -1 -1 -1 -1 -1 AGPAT4 50_intron 28,.,. 0.5,.,. AGPAT4/intron/;AGPAT4/non_coding/ 0.9973 0.2993 0.4610 1 dominant HG002 HG002 chr6:161265137:G:GGATTAGTACCCACCGCTGGACTGGGTGCTGATTAGTACCCACCGCTGGACTGGGTGCTGGATTAGTACCCACCGCTGGACTGGGTGCT 1,.,. -1 -1 -1 0.00140154 0 4 AGPAT4 50_intron 35,.,. 0.457143,.,. AGPAT4/intron/;AGPAT4/non_coding/ 0.9973 0.2993 0.4610 1 dominant HG002 HG002 chr6:161315352:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr6:161350835:ATATAT:A 1,.,. -1 -1 -1 -1 -1 -1 PRKN 50_intron 33,.,. 0.636364,.,. PRKN/intron/;PRKN/non_coding/ 0.0000 0.9175 1.1700 6 Lung cancer;Ovarian cancer;Autosomal recessive juvenile Parkinson disease 2 0.000 dominant HG002 HG002 chr6:161570138:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 PRKN 50_intron 46,.,. 0.304348,.,. PRKN/intron/;PRKN/non_coding/ 0.0000 0.9175 1.1700 6 Lung cancer;Ovarian cancer;Autosomal recessive juvenile Parkinson disease 2 0.000 recessive HG002 HG002 chr6:161759500:CAGTATTTCT:C 2,.,. -1 -1 -1 -1 -1 -1 PRKN 50_intron 21,.,. 1,.,. PRKN/intron/;PRKN/non_coding/ 0.0000 0.9175 1.1700 6 Lung cancer;Ovarian cancer;Autosomal recessive juvenile Parkinson disease 2 0.000 recessive HG002 HG002 chr6:161759514:T:C 2,.,. 0.000265957 0 1 -1 -1 -1 PRKN 50_intron 22,.,. 1,.,. PRKN/intron/;PRKN/non_coding/ 0.0000 0.9175 1.1700 6 Lung cancer;Ovarian cancer;Autosomal recessive juvenile Parkinson disease 2 0.000 dominant HG002 HG002 chr6:161957428:G:T 1,.,. -1 -1 -1 -1 -1 -1 PRKN 50_intron 38,.,. 0.368421,.,. PRKN/intron/;PRKN/non_coding/ 0.0000 0.9175 1.1700 6 Lung cancer;Ovarian cancer;Autosomal recessive juvenile Parkinson disease 2 0.000 dominant HG002 HG002 chr6:161959841:T:C 1,.,. -1 -1 -1 -1 -1 -1 PRKN 50_intron 42,.,. 0.595238,.,. PRKN/intron/;PRKN/non_coding/ 0.0000 0.9175 1.1700 6 Lung cancer;Ovarian cancer;Autosomal recessive juvenile Parkinson disease 2 0.000 recessive HG002 HG002 chr6:162852001:G:A 2,.,. 0.00400872 2 401 0.00210231 0 6 PACRG 50_intron 34,.,. 1,.,. PACRG/intron/;PACRG/non_coding/ 0.0000 0.9540 1.3010 7 recessive HG002 HG002 chr6:162947358:T:A 2,.,. -1 -1 -1 -1 -1 -1 PACRG 50_intron 37,.,. 1,.,. PACRG/intron/ 0.0000 0.9540 1.3010 7 dominant HG002 HG002 chr6:163212749:G:GTACATATAATT 1,.,. -1 -1 -1 -1 -1 -1 PACRG 50_intron 35,.,. 0.571429,.,. PACRG/intron/ 0.0000 0.9540 1.3010 7 dominant HG002 HG002 chr6:163212751:A:T 1,.,. -1 -1 -1 -1 -1 -1 PACRG 50_intron 35,.,. 0.571429,.,. PACRG/intron/ 0.0000 0.9540 1.3010 7 recessive HG002 HG002 chr6:163361528:T:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr6:164180348:T:G 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.444444,.,. dominant HG002 HG002 chr6:164603293:T:TAAA 1,.,. 3.10159e-05 0 4 -1 -1 -1 25,.,. 0.44,.,. dominant HG002 HG002 chr6:164628174:AACATATTAAT:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr6:164628185:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.594595,.,. dominant HG002 HG002 chr6:164762029:A:ATCTCTCTCTCTCTC 1,.,. 2.18748e-05 0 3 -1 -1 -1 20,.,. 0.75,.,. dominant HG002 HG002 chr6:165363298:T:A 1,.,. -1 -1 -1 -1 -1 -1 PDE10A 50_intron 46,.,. 0.478261,.,. PDE10A/intron/;PDE10A/non_coding/ 0.9993 0.2638 0.4270 1 Striatal degeneration, autosomal dominant 2;Infantile-onset generalized dyskinesia with orofacial involvement 0.000 recessive HG002 HG002 chr6:165410939:A:T 2,.,. 2.59673e-05 0 1 -1 -1 -1 PDE10A 50_intron 43,.,. 1,.,. PDE10A/intron/;PDE10A/non_coding/ 0.9993 0.2638 0.4270 1 Striatal degeneration, autosomal dominant 2;Infantile-onset generalized dyskinesia with orofacial involvement 0.000 dominant HG002 HG002 chr6:165813451:TATG:T 1,.,. -1 -1 -1 -1 -1 -1 PDE10A 50_intron 28,.,. 0.428571,.,. PDE10A/intron/;PDE10A/non_coding/ 0.9993 0.2638 0.4270 1 Striatal degeneration, autosomal dominant 2;Infantile-onset generalized dyskinesia with orofacial involvement 0.000 dominant HG002 HG002 chr6:165813455:A:T 1,.,. 1.79134e-05 0 1 -1 -1 -1 PDE10A 50_intron 28,.,. 0.428571,.,. PDE10A/intron/;PDE10A/non_coding/ 0.9993 0.2638 0.4270 1 Striatal degeneration, autosomal dominant 2;Infantile-onset generalized dyskinesia with orofacial involvement 0.000 recessive HG002 HG002 chr6:165983067:C:CAGACA 2,.,. 3.9495e-05 0 6 -1 -1 -1 PDE10A 50_intron 33,.,. 1,.,. PDE10A/intron/;PDE10A/non_coding/ 0.9993 0.2638 0.4270 1 Striatal degeneration, autosomal dominant 2;Infantile-onset generalized dyskinesia with orofacial involvement 0.000 recessive HG002 HG002 chr6:165983068:G:C 2,.,. -1 -1 -1 -1 -1 -1 PDE10A 50_intron 33,.,. 1,.,. PDE10A/intron/;PDE10A/non_coding/ 0.9993 0.2638 0.4270 1 Striatal degeneration, autosomal dominant 2;Infantile-onset generalized dyskinesia with orofacial involvement 0.000 recessive HG002 HG002 chr6:166392734:T:TGTCCGTG 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr6:166392737:T:G 2,.,. 7.24714e-05 0 11 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr6:166855450:G:A 2,.,. 0.00288232 3 174 -1 -1 -1 RPS6KA2 50_intron 31,.,. 1,.,. RPS6KA2/intron/ 0.0093 0.4579 0.6240 2 dominant HG002 HG002 chr6:167288463:C:A 1,.,. -1 -1 -1 -1 -1 -1 UNC93A 50_intron 33,.,. 0.363636,.,. UNC93A/intron/ 0.0000 0.8849 1.1340 6 recessive HG002 HG002 chr6:167422156:C:T 2,.,. -1 -1 -1 0.00630694 1 18 17,.,. 1,.,. recessive HG002 HG002 chr6:167422160:CCCCCACACATGGCGGCTCCCT:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr6:167554490:T:TGTG 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr6:167659595:C:T 1,.,. 9.16725e-06 0 1 -1 -1 -1 32,.,. 0.6875,.,. dominant HG002 HG002 chr6:167659597:T:C 1,.,. 4.02285e-05 0 4 -1 -1 -1 32,.,. 0.6875,.,. dominant HG002 HG002 chr6:167659803:C:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.65625,.,. dominant HG002 HG002 chr6:167659805:TTTATATACACAC:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.65625,.,. dominant HG002 HG002 chr6:167891404:G:GGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 AFDN 50_intron 21,.,. 0.761905,.,. AFDN/intron/;AFDN/non_coding/ 1.0000 0.3208 0.3980 0 recessive HG002 HG002 chr6:167937594:T:TATA 2,.,. 6.5678e-06 0 1 -1 -1 -1 AFDN 50_intron 48,.,. 1,.,. AFDN/intron/;AFDN/non_coding/ 1.0000 0.3208 0.3980 0 recessive HG002 HG002 chr6:167937595:T:C 2,.,. -1 -1 -1 -1 -1 -1 AFDN 50_intron 48,.,. 1,.,. AFDN/intron/;AFDN/non_coding/ 1.0000 0.3208 0.3980 0 dominant HG002 HG002 chr6:168225919:T:C 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.478261,.,. dominant HG002 HG002 chr6:168225922:C:T 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr6:168233362:T:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr6:168233363:A:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr6:168317987:T:C 1,.,. -1 -1 -1 -1 -1 -1 DACT2 50_intron 27,.,. 0.518519,.,. DACT2/intron/ 0.0000 0.9266 1.4690 8 dominant HG002 HG002 chr6:168480940:A:C 1,.,. 1.97161e-05 0 3 -1 -1 -1 SMOC2 50_intron 29,.,. 0.482759,.,. SMOC2/intron/ 0.0000 0.6190 0.8240 3 Dentin dysplasia type I 0.000 dominant HG002 HG002 chr6:168519024:CATGTGT:C 1,.,. -1 -1 -1 -1 -1 -1 SMOC2 50_intron 30,.,. 0.6,.,. SMOC2/intron/ 0.0000 0.6190 0.8240 3 Dentin dysplasia type I 0.000 dominant HG002 HG002 chr6:168654267:G:C 1,.,. -1 -1 -1 -1 -1 -1 SMOC2 50_intron 21,.,. 0.428571,.,. SMOC2/intron/;SMOC2/non_coding/ 0.0000 0.6190 0.8240 3 Dentin dysplasia type I 0.000 dominant HG002 HG002 chr6:168654268:C:T 1,.,. -1 -1 -1 0.00105116 0 3 SMOC2 50_intron 21,.,. 0.428571,.,. SMOC2/intron/;SMOC2/non_coding/ 0.0000 0.6190 0.8240 3 Dentin dysplasia type I 0.000 recessive HG002 HG002 chr6:168865086:C:A 2,.,. 0.00219993 2 118 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr6:169083539:G:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr6:169167493:TGCA:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.571429,.,. dominant HG002 HG002 chr6:169167497:T:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.571429,.,. dominant HG002 HG002 chr6:169300044:A:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.428571,.,. dominant HG002 HG002 chr6:169300046:T:TACTTA 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.428571,.,. recessive HG002 HG002 chr6:169372599:A:C 2,.,. 0.00364964 2 7 0.0112123 2 32 16,.,. 1,.,. dominant HG002 HG002 chr6:169377219:C:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr6:169807164:T:TACACAGAGCTCACCACAGACACAGAGCTCACCACAGACACAGAGCTCTCCACATACACAGAGCTCACCACAGACACAGAGCTCTCCACAGACACAGAGCTCACCACAGACACAGAGCTCACCACAG 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.37037,.,. dominant HG002 HG002 chr6:169829034:G:A 1,.,. -1 -1 -1 0.00105116 0 3 7,.,. 0.428571,.,. dominant HG002 HG002 chr6:169887405:T:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr6:169887406:G:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr6:169887408:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr6:169887409:A:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr6:169949930:A:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr6:169949931:A:ATGT 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr6:169949932:G:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr6:170217054:T:C 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.421053,.,. recessive HG002 HG002 chr6:170220571:G:A 2,.,. -1 -1 -1 0.000700771 0 2 9,.,. 1,.,. recessive HG002 HG002 chr6:170220624:G:A 2,.,. -1 -1 -1 0.00105116 0 3 9,.,. 1,.,. recessive HG002 HG002 chr6:170220726:G:A 2,.,. 0.000548944 0 25 0.00280308 0 8 9,.,. 1,.,. dominant HG002 HG002 chr6:170265114:T:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.384615,.,. recessive HG002 HG002 chr6:170452948:T:A 2,.,. -1 -1 -1 0.0231254 1 66 28,.,. 1,.,. dominant HG002 HG002 chr6:170466325:A:ACTGACACCCACACCATTTACAGCCTGACTGACTGACACCCACACCATTTACAGCCTGACTGACTGACACCCACACCATTTACAGGCTGACTGACTGACACCCACACCATTTACAGCCTGACTGACTGACACCCACACCATTTACAGCCTGACTGACTGACACCCACACCATTTACAGCCTGACTGACTGACACCCACACCATTTACAGCCTGACTGACTGACACCCACACCATTTACAGCCTGACTGACACCCACACCATTTACAGCCTGACTGACTGACACCCACACCATTTACAGCCTGACTGACTGACACCCACACCATTTACAGCCTGACTGACTGACACCCACACCATTTACAGCCTGACTGACACCCACACCATTTACAGCCTGACTGACACCCACACCATTTACAGCCTGACTGACACCCACACCATTTACAGCCTGACTGACACCCACACCATTTACAGCCTGACTGACACCCACACCATTTACAGC 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.225806,.,. recessive HG002 HG002 chr6:170620484:C:G 2,.,. -1 -1 -1 0.0108619 1 31 21,.,. 1,.,. dominant HG002 HG002 chr7:35473:T:TGCTGCTGCTGCTGCTGCTGCTGCTGCCGCTGCTGCCGCCGCCGCC 1,.,. 2.85144e-05 0 4 -1 -1 -1 32,.,. 0.25,.,. dominant HG002 HG002 chr7:205301:A:ACCACGACGTCAGCCCCCCGAGTAGCCGGGACCACGGACACGCACCACCACGACGTCAGCCTCCCGAGTAGCCGGGACCACGGACACGCACCGCCACGACGTCAGCCCCCCGAGTAGCCGGGACCACGGACACGCACCGCCACGACGTCAGCCTCCCGAGTAGCCGGGACCACGGACACGCACCACCACGACGTCAGCCTCCCGAGTAGCCGGGACCACGGACACGCACCGCCACGACGTCAGCCTCCCGAGTAGCCGGGACCACGGACACGCACCGCCACGACGTCAGCCTCCCGAGTAGCCGGGACCACGGACACGCACCG 1,.,. -1 -1 -1 0.00105116 0 3 FAM20C 50_intron 24,.,. 0.375,.,. FAM20C/intron/;FAM20C/non_coding/ 0.0000 0.9451 1.2260 6 Lethal osteosclerotic bone dysplasia 0.000 dominant HG002 HG002 chr7:207024:G:GTGCTCAC 1,.,. -1 -1 -1 -1 -1 -1 FAM20C 50_intron 24,.,. 0.541667,.,. FAM20C/intron/;FAM20C/non_coding/ 0.0000 0.9451 1.2260 6 Lethal osteosclerotic bone dysplasia 0.000 dominant HG002 HG002 chr7:471055:C:CCCA 1,.,. -1 -1 -1 0.000700771 0 2 14,.,. 0.357143,.,. recessive HG002 HG002 chr7:483259:C:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:483282:C:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:483293:C:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:483298:C:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:483337:G:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:483345:G:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:483356:C:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr7:483359:C:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:483364:C:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:483398:G:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:511336:T:TGGCAG 2,.,. -1 -1 -1 -1 -1 -1 PDGFA 50_intron 13,.,. 1,.,. PDGFA/intron/;PDGFA/non_coding/ 0.9958 0.1157 0.3640 0 dominant HG002 HG002 chr7:603622:G:A 1,.,. -1 -1 -1 -1 -1 -1 PRKAR1B 50_intron 14,.,. 0.642857,.,. PRKAR1B/intron/ 0.0080 0.4803 0.6860 2 Marbach-Schaaf neurodevelopmental syndrome 0.000 dominant HG002 HG002 chr7:603659:G:A 1,.,. -1 -1 -1 -1 -1 -1 PRKAR1B 50_intron 15,.,. 0.4,.,. PRKAR1B/intron/ 0.0080 0.4803 0.6860 2 Marbach-Schaaf neurodevelopmental syndrome 0.000 dominant HG002 HG002 chr7:636469:A:G 1,.,. 2.65703e-05 0 4 -1 -1 -1 PRKAR1B 50_intron 23,.,. 0.434783,.,. PRKAR1B/intron/ 0.0080 0.4803 0.6860 2 Marbach-Schaaf neurodevelopmental syndrome 0.000 dominant HG002 HG002 chr7:655731:G:A 1,.,. 1.31399e-05 0 2 -1 -1 -1 PRKAR1B 50_intron 22,.,. 0.545455,.,. PRKAR1B/intron/ 0.0080 0.4803 0.6860 2 Marbach-Schaaf neurodevelopmental syndrome 0.000 dominant HG002 HG002 chr7:745429:C:CACAA 1,.,. 1.57634e-05 0 1 -1 -1 -1 DNAAF5 50_intron 31,.,. 0.548387,.,. DNAAF5/intron/;DNAAF5/non_coding/ 0.0000 0.9096 1.1200 6 Primary ciliary dyskinesia 18 0.000 dominant HG002 HG002 chr7:893347:T:TTGCAGGTGAGTGTTGGGCGCGGGCGCGGTGGTGTG 1,.,. -1 -1 -1 -1 -1 -1 SUN1;GET4 50_intron 20,.,. 0.25,.,. SUN1/intron/;GET4/intron/;GET4/non_coding/ 0.0000;;0.0000 0.5699;;0.7605 0.7120;;1.1410 2;;6 Congenital disorder of glycosylation, type IIy dominant HG002 HG002 chr7:1036436:A:G 1,.,. -1 -1 -1 0.000700771 0 2 C7orf50 50_intron 8,.,. 0.25,.,. C7orf50/intron/;C7orf50/non_coding/ 0.0001 0.8464 1.3230 7 dominant HG002 HG002 chr7:1066870:CCCCAGAGGTGAGGGTTTGGGGCACAGTCTGTTGGCGGAGGCTGGAGTGCA:C 1,.,. 8.61312e-06 0 1 -1 -1 -1 C7orf50 50_intron 26,.,. 0.346154,.,. C7orf50/intron/;C7orf50/non_coding/ 0.0001 0.8464 1.3230 7 dominant HG002 HG002 chr7:1070929:A:G 1,.,. -1 -1 -1 -1 -1 -1 C7orf50 50_intron 18,.,. 0.333333,.,. C7orf50/intron/;C7orf50/non_coding/ 0.0001 0.8464 1.3230 7 recessive HG002 HG002 chr7:1204711:TGTGTGTGC:T 2,.,. 0.0286738 0 32 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr7:1204721:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chr7:1509131:C:T 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.352941,.,. dominant HG002 HG002 chr7:1509133:G:A 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.352941,.,. dominant HG002 HG002 chr7:1578776:A:T 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.5,.,. dominant HG002 HG002 chr7:1643197:T:TCCTCCCTC 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.55,.,. dominant HG002 HG002 chr7:1954318:G:C 1,.,. -1 -1 -1 -1 -1 -1 MAD1L1;AC069288.1 50_intron 26,.,. 0.5,.,. MAD1L1/intron/;AC069288.1/intron/;MAD1L1/non_coding/ 0.0000 1.0339 1.2280 6 Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition;Familial prostate cancer 0.000 dominant HG002 HG002 chr7:2041806:A:C 1,.,. -1 -1 -1 -1 -1 -1 MAD1L1;AC069288.1 50_intron 22,.,. 0.5,.,. MAD1L1/intron/;AC069288.1/intron/;MAD1L1/non_coding/ 0.0000 1.0339 1.2280 6 Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition;Familial prostate cancer 0.000 dominant HG002 HG002 chr7:2228024:GGAGA:G 1,.,. 3.75869e-05 0 4 -1 -1 -1 MAD1L1;AC069288.1 50_intron 30,.,. 0.366667,.,. MAD1L1/intron/;AC069288.1/intron/ 0.0000 1.0339 1.2280 6 Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition;Familial prostate cancer 0.000 dominant HG002 HG002 chr7:2634617:G:A 1,.,. 1.3152e-05 0 2 -1 -1 -1 TTYH3 50_intron 16,.,. 0.6875,.,. TTYH3/intron/ 0.0059 0.4827 0.6840 2 dominant HG002 HG002 chr7:2677329:G:A 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.4,.,. dominant HG002 HG002 chr7:2768690:A:C 1,.,. -1 -1 -1 -1 -1 -1 GNA12 50_intron 36,.,. 0.416667,.,. GNA12/intron/;GNA12/non_coding/ 0.9259 0.2830 0.5590 1 dominant HG002 HG002 chr7:2910745:A:ACACACACACACG 1,.,. 2.04692e-05 0 1 -1 -1 -1 CARD11 50_intron 19,.,. 0.421053,.,. CARD11/intron/ 1.0000 0.2785 0.3640 0 Immunodeficiency 11b with atopic dermatitis;Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease 0.000 dominant HG002 HG002 chr7:2984538:T:TCCCTTCCC 1,.,. -1 -1 -1 -1 -1 -1 CARD11 50_intron 28,.,. 0.25,.,. CARD11/intron/ 1.0000 0.2785 0.3640 0 Immunodeficiency 11b with atopic dermatitis;Severe combined immunodeficiency due to CARD11 deficiency;BENTA disease 0.000 dominant HG002 HG002 chr7:3144560:C:CCG 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr7:3365815:CTGAGGTCAGTCAGG:C 1,.,. -1 -1 -1 -1 -1 -1 SDK1 50_intron 45,.,. 0.488889,.,. SDK1/intron/ 0.0000 0.6683 0.7690 3 dominant HG002 HG002 chr7:3365831:G:T 1,.,. -1 -1 -1 -1 -1 -1 SDK1 50_intron 45,.,. 0.488889,.,. SDK1/intron/ 0.0000 0.6683 0.7690 3 dominant HG002 HG002 chr7:3365832:T:G 1,.,. -1 -1 -1 -1 -1 -1 SDK1 50_intron 45,.,. 0.488889,.,. SDK1/intron/ 0.0000 0.6683 0.7690 3 dominant HG002 HG002 chr7:3432122:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 SDK1 50_intron 46,.,. 0.478261,.,. SDK1/intron/ 0.0000 0.6683 0.7690 3 dominant HG002 HG002 chr7:3528394:G:A 1,.,. -1 -1 -1 -1 -1 -1 SDK1 50_intron 47,.,. 0.553191,.,. SDK1/intron/ 0.0000 0.6683 0.7690 3 dominant HG002 HG002 chr7:3723132:G:T 1,.,. -1 -1 -1 -1 -1 -1 SDK1 50_intron 43,.,. 0.465116,.,. SDK1/intron/ 0.0000 0.6683 0.7690 3 dominant HG002 HG002 chr7:4065457:C:CACTG 1,.,. -1 -1 -1 -1 -1 -1 SDK1 50_intron 43,.,. 0.55814,.,. SDK1/intron/ 0.0000 0.6683 0.7690 3 recessive HG002 HG002 chr7:4194458:A:ATATG 2,.,. 0.000176985 2 11 -1 -1 -1 SDK1 50_intron 27,.,. 1,.,. SDK1/intron/;SDK1/non_coding/ 0.0000 0.6683 0.7690 3 dominant HG002 HG002 chr7:4230697:G:A 1,.,. -1 -1 -1 -1 -1 -1 SDK1 50_intron 29,.,. 0.37931,.,. SDK1/intron/;SDK1/non_coding/ 0.0000 0.6683 0.7690 3 dominant HG002 HG002 chr7:4313201:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr7:4500273:G:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr7:4886301:T:TATATATATATATATATATATATATATGTATATATATATATATATATATATATATACATATATATATATATATA 1,.,. -1 -1 -1 0.000700771 0 2 25,.,. 0.36,.,. dominant HG002 HG002 chr7:4925316:G:C 1,.,. -1 -1 -1 -1 -1 -1 MMD2 50_intron 30,.,. 0.6,.,. MMD2/intron/ 0.0000 0.9967 1.3520 7 dominant HG002 HG002 chr7:4934294:GGGTTTTGC:G 1,.,. -1 -1 -1 -1 -1 -1 MMD2 50_intron 23,.,. 0.434783,.,. MMD2/intron/ 0.0000 0.9967 1.3520 7 dominant HG002 HG002 chr7:4934304:A:C 1,.,. -1 -1 -1 -1 -1 -1 MMD2 50_intron 23,.,. 0.434783,.,. MMD2/intron/ 0.0000 0.9967 1.3520 7 dominant HG002 HG002 chr7:5097824:TTTTTTTTTTTGAGA:T 1,.,. 3.46428e-05 0 1 -1 -1 -1 21,.,. 0.47619,.,. recessive HG002 HG002 chr7:5097841:C:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr7:5141432:TGGTC:T 2,.,. -1 -1 -1 -1 -1 -1 ZNF890P 53_non_coding 33,.,. 1,.,. ZNF890P/non_coding/ recessive HG002 HG002 chr7:5141437:T:A 2,.,. -1 -1 -1 -1 -1 -1 ZNF890P 53_non_coding 33,.,. 1,.,. ZNF890P/non_coding/ recessive HG002 HG002 chr7:5141438:T:A 2,.,. -1 -1 -1 -1 -1 -1 ZNF890P 53_non_coding 33,.,. 1,.,. ZNF890P/non_coding/ recessive HG002 HG002 chr7:5141439:G:C 2,.,. -1 -1 -1 -1 -1 -1 ZNF890P 53_non_coding 33,.,. 1,.,. ZNF890P/non_coding/ dominant HG002 HG002 chr7:5163616:G:C 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.578947,.,. dominant HG002 HG002 chr7:5163617:G:A 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.578947,.,. dominant HG002 HG002 chr7:5163618:T:C 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.578947,.,. dominant HG002 HG002 chr7:5389471:T:C 1,.,. -1 -1 -1 -1 -1 -1 TNRC18 36_3_prime_utr 22,.,. 0.5,.,. TNRC18/3_prime_utr/ENST00000399434 0.0001 0.4553 0.5560 1 dominant HG002 HG002 chr7:5447525:G:GGATA 1,.,. -1 -1 -1 -1 -1 -1 FBXL18 50_intron 18,.,. 0.666667,.,. FBXL18/intron/ 0.0000 0.8692 1.1480 6 dominant HG002 HG002 chr7:5811242:C:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.48,.,. dominant HG002 HG002 chr7:5860316:CCTAAGCAGTT:C 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.28,.,. dominant HG002 HG002 chr7:5893090:T:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr7:5998077:G:GT 1,.,. -1 -1 -1 -1 -1 -1 PMS2 50_intron 25,.,. 0.2,.,. PMS2/intron/;PMS2/non_coding/ 0.0000 0.6824 0.8980 4 Mismatch repair cancer syndrome 4;Lynch syndrome;Lynch syndrome 4 0.000 dominant HG002 HG002 chr7:6009290:C:G 1,.,. -1 -1 -1 -1 -1 -1 AIMP2 35_5_prime_utr 30,.,. 0.4,.,. AIMP2/5_prime_utr/ENST00000400479;AIMP2/5_prime_utr/ENST00000223029;AIMP2/5_prime_utr&NMD_transcript/ENST00000415999 0.0000 0.7688 1.1070 6 Leukodystrophy, hypomyelinating, 17 0.000 dominant HG002 HG002 chr7:6312272:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr7:6312273:C:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr7:6344148:GA:G 1,.,. -1 -1 -1 -1 -1 -1 FAM220A 50_intron 28,.,. 0.642857,.,. FAM220A/intron/;FAM220A/non_coding/ 0.1424 1.3039 1.9110 9 dominant HG002 HG002 chr7:6717874:T:G 1,.,. -1 -1 -1 -1 -1 -1 PMS2CL;SPDYE20P 53_non_coding 26,.,. 0.384615,.,. PMS2CL/non_coding/;SPDYE20P/non_coding/ dominant HG002 HG002 chr7:6717876:C:T 1,.,. -1 -1 -1 -1 -1 -1 PMS2CL;SPDYE20P 53_non_coding 23,.,. 0.434783,.,. PMS2CL/non_coding/;SPDYE20P/non_coding/ dominant HG002 HG002 chr7:6737658:CA:C 1,.,. -1 -1 -1 -1 -1 -1 PMS2CL 53_non_coding 27,.,. 0.555556,.,. PMS2CL/non_coding/ dominant HG002 HG002 chr7:6976971:TAG:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr7:6983019:AATGC:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr7:6983024:T:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr7:7321696:C:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.44,.,. dominant HG002 HG002 chr7:7321697:T:C 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.44,.,. dominant HG002 HG002 chr7:7321698:G:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.44,.,. dominant HG002 HG002 chr7:7374036:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 COL28A1 50_intron 41,.,. 0.341463,.,. COL28A1/intron/ 0.0000 0.9198 1.1240 6 dominant HG002 HG002 chr7:7497082:A:AAAGGAAGGAAGG 1,.,. -1 -1 -1 -1 -1 -1 COL28A1 50_intron 41,.,. 0.390244,.,. COL28A1/intron/ 0.0000 0.9198 1.1240 6 recessive HG002 HG002 chr7:7860782:A:C 2,.,. 0.00138826 0 61 -1 -1 -1 UMAD1 50_intron 47,.,. 1,.,. UMAD1/intron/;UMAD1/non_coding/ recessive HG002 HG002 chr7:7883008:A:G 2,.,. 0.000345383 0 21 -1 -1 -1 UMAD1 50_intron 43,.,. 1,.,. UMAD1/intron/ dominant HG002 HG002 chr7:8089890:CATATA:C 1,.,. -1 -1 -1 -1 -1 -1 GLCCI1 50_intron 42,.,. 0.5,.,. GLCCI1/intron/ 0.0001 0.6123 0.8900 4 Glucocorticoid therapy, response to dominant HG002 HG002 chr7:8611653:T:A 1,.,. 1.97218e-05 0 3 -1 -1 -1 NXPH1 50_intron 58,.,. 0.603448,.,. NXPH1/intron/ 0.9959 0.2025 0.4260 1 recessive HG002 HG002 chr7:8667370:TATTTGTTTTG:T 2,.,. -1 -1 -1 -1 -1 -1 NXPH1 50_intron 45,.,. 1,.,. NXPH1/intron/ 0.9959 0.2025 0.4260 1 recessive HG002 HG002 chr7:8668275:G:T 2,.,. -1 -1 -1 0.00560617 0 16 NXPH1 50_intron 40,.,. 1,.,. NXPH1/intron/ 0.9959 0.2025 0.4260 1 dominant HG002 HG002 chr7:8918131:T:C 1,.,. 6.57047e-06 0 1 -1 -1 -1 48,.,. 0.4375,.,. dominant HG002 HG002 chr7:9073296:C:CTCT 1,.,. 1.27327e-05 0 1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr7:9323096:G:A 1,.,. 0.000160668 0 1 0.000700771 0 2 44,.,. 0.590909,.,. dominant HG002 HG002 chr7:9323097:G:GAGGGCAGCATGCCTTAC 1,.,. 6.59465e-06 0 1 -1 -1 -1 44,.,. 0.590909,.,. dominant HG002 HG002 chr7:9850844:G:A 1,.,. 3.7577e-05 0 2 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr7:10060827:T:TGTTTTG 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr7:10094567:A:G 1,.,. 2.63567e-05 0 4 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr7:10326187:G:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr7:11566967:G:A 1,.,. -1 -1 -1 -1 -1 -1 THSD7A 50_intron 47,.,. 0.531915,.,. THSD7A/intron/ 0.0131 0.4204 0.5000 1 dominant HG002 HG002 chr7:11721520:C:G 1,.,. -1 -1 -1 -1 -1 -1 THSD7A 50_intron 57,.,. 0.54386,.,. THSD7A/intron/;THSD7A/non_coding/ 0.0131 0.4204 0.5000 1 dominant HG002 HG002 chr7:11721522:G:A 1,.,. -1 -1 -1 -1 -1 -1 THSD7A 50_intron 58,.,. 0.551724,.,. THSD7A/intron/;THSD7A/non_coding/ 0.0131 0.4204 0.5000 1 dominant HG002 HG002 chr7:11721523:T:G 1,.,. -1 -1 -1 -1 -1 -1 THSD7A 50_intron 57,.,. 0.561404,.,. THSD7A/intron/;THSD7A/non_coding/ 0.0131 0.4204 0.5000 1 dominant HG002 HG002 chr7:11721524:GAGTCAATAAAACCT:G 1,.,. -1 -1 -1 -1 -1 -1 THSD7A 50_intron 58,.,. 0.551724,.,. THSD7A/intron/;THSD7A/non_coding/ 0.0131 0.4204 0.5000 1 dominant HG002 HG002 chr7:12038724:T:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr7:12237810:TATAC:T 1,.,. 1.69811e-05 0 2 -1 -1 -1 TMEM106B 36_3_prime_utr 43,.,. 0.302326,.,. TMEM106B/3_prime_utr/ENST00000396668;TMEM106B/3_prime_utr/ENST00000396667 0.0462 0.4912 0.8130 3 Leukodystrophy, hypomyelinating, 16 0.000 dominant HG002 HG002 chr7:12469400:CAAATT:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr7:12469406:C:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr7:12657566:ATATATATTTTTTTT:A 1,.,. -1 -1 -1 -1 -1 -1 SCIN 36_3_prime_utr 33,.,. 0.363636,.,. SCIN/3_prime_utr/ENST00000297029 0.0000 0.9480 1.1620 6 dominant HG002 HG002 chr7:12797579:ATATATATTTTTTTTTTTTT:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.307692,.,. dominant HG002 HG002 chr7:12987074:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr7:13302783:G:GAGATATATATATATATCTAGATATATATATATATCT 1,.,. 3.1573e-05 0 3 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr7:13561507:T:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr7:13645363:G:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr7:13707274:T:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.5,.,. dominant HG002 HG002 chr7:13768691:A:G 1,.,. -1 -1 -1 0.000700771 0 2 44,.,. 0.568182,.,. dominant HG002 HG002 chr7:13769312:C:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr7:13849697:A:AAAGGAAGGAAGGAAGGAAGG 1,.,. -1 -1 -1 0.00105116 0 3 29,.,. 0.62069,.,. recessive HG002 HG002 chr7:13865252:CCA:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr7:13865259:T:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chr7:14008385:G:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.511111,.,. dominant HG002 HG002 chr7:14121482:G:T 1,.,. 1.97291e-05 0 3 -1 -1 -1 43,.,. 0.604651,.,. dominant HG002 HG002 chr7:14283708:T:C 1,.,. 2.63203e-05 0 4 -1 -1 -1 DGKB 50_intron 43,.,. 0.395349,.,. DGKB/intron/;DGKB/non_coding/ 0.0002 0.5442 0.7550 3 dominant HG002 HG002 chr7:14439208:T:C 1,.,. -1 -1 -1 -1 -1 -1 DGKB 50_intron 53,.,. 0.320755,.,. DGKB/intron/;DGKB/non_coding/ 0.0002 0.5442 0.7550 3 recessive HG002 HG002 chr7:14590175:C:A 2,.,. -1 -1 -1 0.00770848 0 22 DGKB 50_intron 44,.,. 1,.,. DGKB/intron/;DGKB/non_coding/ 0.0002 0.5442 0.7550 3 dominant HG002 HG002 chr7:14720471:A:ATGTG 1,.,. -1 -1 -1 -1 -1 -1 DGKB 50_intron 39,.,. 0.435897,.,. DGKB/intron/;DGKB/non_coding/ 0.0002 0.5442 0.7550 3 dominant HG002 HG002 chr7:14758920:G:GATAGATAC 1,.,. -1 -1 -1 -1 -1 -1 DGKB 50_intron 32,.,. 0.53125,.,. DGKB/intron/;DGKB/non_coding/ 0.0002 0.5442 0.7550 3 recessive HG002 HG002 chr7:15437531:CTTTT:C 2,.,. -1 -1 -1 0.0266293 4 76 AGMO 50_intron 23,.,. 1,.,. AGMO/intron/ 0.0000 1.1955 1.5610 8 recessive HG002 HG002 chr7:16043294:CAAAA:C 2,.,. -1 -1 -1 0.0259285 4 74 29,.,. 1,.,. dominant HG002 HG002 chr7:16747691:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.333333,.,. recessive HG002 HG002 chr7:16791104:A:G 2,.,. -1 -1 -1 0.00875964 1 25 27,.,. 1,.,. recessive HG002 HG002 chr7:16845041:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr7:17112806:A:ATCATATATG 2,.,. -1 -1 -1 -1 -1 -1 AHR 53_non_coding 37,.,. 1,.,. AHR/non_coding/ 0.0080 0.4529 0.6060 2 Foveal hypoplasia 3;Retinitis pigmentosa 85 0.000 recessive HG002 HG002 chr7:17112811:A:G 2,.,. 4.36414e-05 0 1 -1 -1 -1 AHR 53_non_coding 37,.,. 1,.,. AHR/non_coding/ 0.0080 0.4529 0.6060 2 Foveal hypoplasia 3;Retinitis pigmentosa 85 0.000 dominant HG002 HG002 chr7:17993044:G:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.541667,.,. dominant HG002 HG002 chr7:17994070:G:A 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.54902,.,. dominant HG002 HG002 chr7:18311091:A:AGAT 1,.,. -1 -1 -1 -1 -1 -1 HDAC9 50_intron 29,.,. 0.62069,.,. HDAC9/intron/;HDAC9/non_coding/ 1.0000 0.2777 0.3770 0 Auriculocondylar syndrome 4 recessive HG002 HG002 chr7:18993141:T:A 2,.,. -1 -1 -1 -1 -1 -1 HDAC9 50_intron 43,.,. 1,.,. HDAC9/intron/;HDAC9/non_coding/ 1.0000 0.2777 0.3770 0 Auriculocondylar syndrome 4 recessive HG002 HG002 chr7:18993143:T:A 2,.,. -1 -1 -1 -1 -1 -1 HDAC9 50_intron 43,.,. 1,.,. HDAC9/intron/;HDAC9/non_coding/ 1.0000 0.2777 0.3770 0 Auriculocondylar syndrome 4 recessive HG002 HG002 chr7:18993144:T:A 2,.,. -1 -1 -1 -1 -1 -1 HDAC9 50_intron 41,.,. 1,.,. HDAC9/intron/;HDAC9/non_coding/ 1.0000 0.2777 0.3770 0 Auriculocondylar syndrome 4 dominant HG002 HG002 chr7:19345561:T:TTCCCTTCCTTCCCTCCC 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.55814,.,. recessive HG002 HG002 chr7:20178299:T:C 2,.,. 0.00497453 1 209 0.000700771 0 2 MACC1 50_intron 31,.,. 1,.,. MACC1/intron/;MACC1/non_coding/ 0.0000 1.0718 1.2990 7 dominant HG002 HG002 chr7:21442029:TGTGTGTGTA:T 1,.,. -1 -1 -1 -1 -1 -1 SP4 50_intron 43,.,. 0.418605,.,. SP4/intron/ 1.0000 0.2202 0.3390 0 dominant HG002 HG002 chr7:21442039:T:A 1,.,. -1 -1 -1 -1 -1 -1 SP4 50_intron 41,.,. 0.463415,.,. SP4/intron/ 1.0000 0.2202 0.3390 0 dominant HG002 HG002 chr7:21769607:C:T 1,.,. -1 -1 -1 -1 -1 -1 DNAH11 50_intron 46,.,. 0.5,.,. DNAH11/intron/ 0.0000 0.8406 0.9120 4 Primary ciliary dyskinesia 7 0.000 dominant HG002 HG002 chr7:22784786:A:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr7:22845040:CAG:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr7:23049913:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.368421,.,. dominant HG002 HG002 chr7:23407953:CGGGGGGCG:C 1,.,. -1 -1 -1 -1 -1 -1 IGF2BP3 50_intron 30,.,. 0.466667,.,. IGF2BP3/intron/;IGF2BP3/non_coding/ 1.0000 0.0933 0.1960 0 dominant HG002 HG002 chr7:23966638:ATGCC:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr7:23966643:A:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. recessive HG002 HG002 chr7:24076900:A:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr7:24076901:T:TATA 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr7:24076905:A:G 2,.,. -1 -1 -1 0.000700771 0 2 40,.,. 1,.,. recessive HG002 HG002 chr7:24076920:A:ATGTATATAC 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr7:24370565:A:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.357143,.,. dominant HG002 HG002 chr7:24370566:TATTTAG:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.357143,.,. dominant HG002 HG002 chr7:25000408:T:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr7:25000410:C:A 1,.,. -1 -1 -1 0.00140154 1 4 31,.,. 0.483871,.,. dominant HG002 HG002 chr7:25000412:T:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr7:25000414:C:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr7:25000415:TTCA:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr7:25404075:CACA:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.434783,.,. dominant HG002 HG002 chr7:25404079:G:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr7:25404080:C:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.434783,.,. dominant HG002 HG002 chr7:25581638:C:T 1,.,. 8.24606e-05 0 2 0.00105116 1 3 46,.,. 0.565217,.,. dominant HG002 HG002 chr7:26080223:G:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.571429,.,. dominant HG002 HG002 chr7:26080224:G:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr7:26080226:A:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr7:26080228:A:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr7:26080230:A:G 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.571429,.,. recessive HG002 HG002 chr7:26552727:C:T 2,.,. 0.00364107 4 537 0.000700771 0 2 34,.,. 1,.,. dominant HG002 HG002 chr7:27169875:C:T 1,.,. 2.6276e-05 0 4 -1 -1 -1 HOXA9;AC004080.3 50_intron 40,.,. 0.55,.,. HOXA9/non_coding/;AC004080.3/intron/ 0.0000 0.9667 1.4330 7 dominant HG002 HG002 chr7:27650701:C:A 1,.,. 3.34091e-05 0 4 -1 -1 -1 HIBADH 50_intron 43,.,. 0.348837,.,. HIBADH/intron/;HIBADH/non_coding/ 0.0000 0.7834 1.1280 6 recessive HG002 HG002 chr7:27874719:A:T 2,.,. -1 -1 -1 -1 -1 -1 JAZF1 50_intron 49,.,. 1,.,. JAZF1/intron/;JAZF1/non_coding/ 0.9921 0.1913 0.4380 1 recessive HG002 HG002 chr7:27874720:T:G 2,.,. -1 -1 -1 -1 -1 -1 JAZF1 50_intron 48,.,. 1,.,. JAZF1/intron/;JAZF1/non_coding/ 0.9921 0.1913 0.4380 1 dominant HG002 HG002 chr7:28347910:C:T 1,.,. -1 -1 -1 -1 -1 -1 CREB5 50_intron 37,.,. 0.648649,.,. CREB5/intron/ 0.9997 0.2695 0.4210 1 dominant HG002 HG002 chr7:28353818:GGGGAAC:G 1,.,. -1 -1 -1 -1 -1 -1 CREB5 50_intron 34,.,. 0.647059,.,. CREB5/intron/ 0.9997 0.2695 0.4210 1 dominant HG002 HG002 chr7:28353825:A:C 1,.,. -1 -1 -1 -1 -1 -1 CREB5 50_intron 34,.,. 0.647059,.,. CREB5/intron/ 0.9997 0.2695 0.4210 1 dominant HG002 HG002 chr7:28390095:G:A 1,.,. 2.6396e-05 0 4 -1 -1 -1 CREB5 50_intron 45,.,. 0.577778,.,. CREB5/intron/ 0.9997 0.2695 0.4210 1 dominant HG002 HG002 chr7:28421918:GTGTGTGTA:G 1,.,. 3.09439e-05 0 4 -1 -1 -1 CREB5 50_intron 41,.,. 0.487805,.,. CREB5/intron/;CREB5/non_coding/ 0.9997 0.2695 0.4210 1 dominant HG002 HG002 chr7:28672182:A:AACAC 1,.,. -1 -1 -1 -1 -1 -1 CREB5 50_intron 42,.,. 0.357143,.,. CREB5/intron/;CREB5/non_coding/ 0.9997 0.2695 0.4210 1 dominant HG002 HG002 chr7:28838372:TG:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr7:28838382:T:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr7:28838423:A:G 1,.,. -1 -1 -1 0.000700771 0 2 36,.,. 0.5,.,. dominant HG002 HG002 chr7:28838455:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr7:28838481:C:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr7:28838482:C:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr7:28838491:G:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr7:29220278:A:AAGAGAGAG 1,.,. -1 -1 -1 -1 -1 -1 AC004593.2;CHN2 50_intron 41,.,. 0.414634,.,. AC004593.2/intron/;CHN2/intron/;CHN2/non_coding/ 0.0000 0.6418 0.8850 4 dominant HG002 HG002 chr7:29233772:GAAATGGA:G 1,.,. 7.23249e-05 0 4 -1 -1 -1 AC004593.2;CHN2 50_intron 38,.,. 0.526316,.,. AC004593.2/intron/;CHN2/intron/;CHN2/non_coding/ 0.0000 0.6418 0.8850 4 dominant HG002 HG002 chr7:29233784:G:T 1,.,. -1 -1 -1 -1 -1 -1 AC004593.2;CHN2 50_intron 38,.,. 0.526316,.,. AC004593.2/intron/;CHN2/intron/;CHN2/non_coding/ 0.0000 0.6418 0.8850 4 dominant HG002 HG002 chr7:29653673:T:C 1,.,. -1 -1 -1 -1 -1 -1 ZNRF2P2;DPY19L2P3 53_non_coding 41,.,. 0.439024,.,. ZNRF2P2/non_coding/;DPY19L2P3/non_coding/ dominant HG002 HG002 chr7:29762412:A:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr7:29838383:T:C 1,.,. -1 -1 -1 -1 -1 -1 WIPF3 50_intron 38,.,. 0.447368,.,. WIPF3/intron/ 0.0000 0.8659 1.1690 6 dominant HG002 HG002 chr7:30346170:ATTTTTTTTTTTTT:A 1,.,. -1 -1 -1 0.00140154 0 4 ZNRF2 50_intron 19,.,. 0.684211,.,. ZNRF2/intron/ 0.0004 1.6444 1.9450 9 dominant HG002 HG002 chr7:30694904:A:G 1,.,. -1 -1 -1 -1 -1 -1 CRHR2 50_intron 31,.,. 0.548387,.,. CRHR2/intron/;CRHR2/non_coding/ 0.0000 0.9713 1.2210 6 dominant HG002 HG002 chr7:30694905:G:A 1,.,. -1 -1 -1 -1 -1 -1 CRHR2 50_intron 31,.,. 0.548387,.,. CRHR2/intron/;CRHR2/non_coding/ 0.0000 0.9713 1.2210 6 dominant HG002 HG002 chr7:30694906:A:G 1,.,. -1 -1 -1 -1 -1 -1 CRHR2 50_intron 31,.,. 0.548387,.,. CRHR2/intron/;CRHR2/non_coding/ 0.0000 0.9713 1.2210 6 recessive HG002 HG002 chr7:30789164:G:A 2,.,. -1 -1 -1 -1 -1 -1 INMT-MINDY4;MINDY4 50_intron 38,.,. 1,.,. INMT-MINDY4/intron/;MINDY4/intron/ 0.0000 0.7301 0.9070 4 recessive HG002 HG002 chr7:30789167:CGGTGAACCAG:C 2,.,. -1 -1 -1 -1 -1 -1 INMT-MINDY4;MINDY4 50_intron 38,.,. 1,.,. INMT-MINDY4/intron/;MINDY4/intron/ 0.0000 0.7301 0.9070 4 dominant HG002 HG002 chr7:30968640:C:CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT 1,.,. -1 -1 -1 -1 -1 -1 GHRHR 50_intron 27,.,. 0.62963,.,. GHRHR/non_coding/;GHRHR/intron/ 0.0000 0.7258 0.9840 4 Isolated growth hormone deficiency, type 4 0.000 dominant HG002 HG002 chr7:31142646:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr7:31142647:ATCTTGAATATCTCT:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr7:31288577:A:G 1,.,. 6.57177e-06 0 1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr7:31499303:G:GTGAAAATCCTAAGAGT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr7:31499305:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr7:31500195:ACT:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr7:31500198:A:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr7:31761092:C:CACA 1,.,. -1 -1 -1 -1 -1 -1 PDE1C 50_intron 38,.,. 0.5,.,. PDE1C/intron/ 0.0000 0.6537 0.8430 3 Hearing loss, autosomal dominant 74 0.000 dominant HG002 HG002 chr7:31761095:GT:G 1,.,. 6.6454e-06 0 1 -1 -1 -1 PDE1C 50_intron 38,.,. 0.5,.,. PDE1C/intron/ 0.0000 0.6537 0.8430 3 Hearing loss, autosomal dominant 74 0.000 dominant HG002 HG002 chr7:31761098:T:TAAGAATTTAACTTTGAATCTTTACTACAATCCTACGAGGCAAGTACTATTATCACTCCCTCTTTGGGTGAGGAAACTGAGGC 1,.,. -1 -1 -1 -1 -1 -1 PDE1C 50_intron 34,.,. 0.441176,.,. PDE1C/intron/ 0.0000 0.6537 0.8430 3 Hearing loss, autosomal dominant 74 0.000 dominant HG002 HG002 chr7:31761101:T:A 1,.,. -1 -1 -1 -1 -1 -1 PDE1C 50_intron 38,.,. 0.5,.,. PDE1C/intron/ 0.0000 0.6537 0.8430 3 Hearing loss, autosomal dominant 74 0.000 dominant HG002 HG002 chr7:31761102:G:GAGA 1,.,. -1 -1 -1 -1 -1 -1 PDE1C 50_intron 38,.,. 0.5,.,. PDE1C/intron/ 0.0000 0.6537 0.8430 3 Hearing loss, autosomal dominant 74 0.000 recessive HG002 HG002 chr7:32157546:G:GGATC 2,.,. -1 -1 -1 -1 -1 -1 PDE1C 50_intron 37,.,. 1,.,. PDE1C/intron/ 0.0000 0.6537 0.8430 3 Hearing loss, autosomal dominant 74 0.000 recessive HG002 HG002 chr7:32161607:TGTTTAGA:T 2,.,. -1 -1 -1 -1 -1 -1 PDE1C 50_intron 39,.,. 1,.,. PDE1C/intron/ 0.0000 0.6537 0.8430 3 Hearing loss, autosomal dominant 74 0.000 recessive HG002 HG002 chr7:32161615:G:A 2,.,. -1 -1 -1 -1 -1 -1 PDE1C 50_intron 39,.,. 1,.,. PDE1C/intron/ 0.0000 0.6537 0.8430 3 Hearing loss, autosomal dominant 74 0.000 dominant HG002 HG002 chr7:32374189:A:AGAAAGAGAGG 1,.,. -1 -1 -1 -1 -1 -1 PDE1C 50_intron 33,.,. 0.484848,.,. PDE1C/intron/ 0.0000 0.6537 0.8430 3 Hearing loss, autosomal dominant 74 0.000 dominant HG002 HG002 chr7:32600892:T:TGCAGTCC 1,.,. -1 -1 -1 -1 -1 -1 DPY19L1P1 53_non_coding 37,.,. 0.513514,.,. DPY19L1P1/non_coding/ dominant HG002 HG002 chr7:32600896:C:G 1,.,. -1 -1 -1 -1 -1 -1 DPY19L1P1 53_non_coding 37,.,. 0.513514,.,. DPY19L1P1/non_coding/ dominant HG002 HG002 chr7:32685586:C:T 1,.,. -1 -1 -1 -1 -1 -1 DPY19L1P1 53_non_coding 32,.,. 0.53125,.,. DPY19L1P1/non_coding/ dominant HG002 HG002 chr7:32782900:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.628571,.,. dominant HG002 HG002 chr7:33033894:A:ATATAT 1,.,. 1.61896e-05 0 2 0.00140154 0 4 NT5C3A 50_intron 38,.,. 0.368421,.,. NT5C3A/intron/;NT5C3A/non_coding/ 0.0009 0.7017 1.1370 6 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 0.000 dominant HG002 HG002 chr7:33340445:A:C 1,.,. -1 -1 -1 -1 -1 -1 BBS9 50_intron 35,.,. 0.6,.,. BBS9/intron/;BBS9/non_coding/ 0.0000 0.7962 0.9590 4 Bardet-Biedl syndrome 9 0.000 recessive HG002 HG002 chr7:33843649:A:AGAGGTGG 2,.,. -1 -1 -1 -1 -1 -1 BBS9 53_non_coding 23,.,. 1,.,. BBS9/non_coding/ 0.0000 0.7962 0.9590 4 Bardet-Biedl syndrome 9 0.000 recessive HG002 HG002 chr7:33843650:A:G 2,.,. -1 -1 -1 -1 -1 -1 BBS9 53_non_coding 22,.,. 1,.,. BBS9/non_coding/ 0.0000 0.7962 0.9590 4 Bardet-Biedl syndrome 9 0.000 dominant HG002 HG002 chr7:34391244:T:TCTTTCTTTCTTC 1,.,. 3.96228e-05 0 3 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr7:34884558:T:C 1,.,. 4.91993e-05 0 4 -1 -1 -1 41,.,. 0.292683,.,. dominant HG002 HG002 chr7:34890279:T:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr7:34959929:A:T 1,.,. -1 -1 -1 -1 -1 -1 DPY19L1 50_intron 47,.,. 0.361702,.,. DPY19L1/intron/;DPY19L1/non_coding/ 0.2910 0.4112 0.6330 2 dominant HG002 HG002 chr7:34982682:A:C 1,.,. -1 -1 -1 -1 -1 -1 DPY19L1 50_intron 44,.,. 0.454545,.,. DPY19L1/intron/;DPY19L1/non_coding/ 0.2910 0.4112 0.6330 2 dominant HG002 HG002 chr7:35269810:G:A 1,.,. 2.62764e-05 0 4 -1 -1 -1 31,.,. 0.387097,.,. dominant HG002 HG002 chr7:35279944:T:A 1,.,. 2.62902e-05 0 4 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr7:35374886:G:T 1,.,. 1.97104e-05 0 3 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr7:35579563:T:A 1,.,. 2.67967e-05 0 4 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr7:35612088:C:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr7:36019464:G:A 1,.,. 1.97075e-05 0 3 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr7:36046887:TTTTATTATG:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr7:36046897:T:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr7:36185659:AAGAT:A 1,.,. -1 -1 -1 -1 -1 -1 EEPD1 50_intron 39,.,. 0.589744,.,. EEPD1/intron/ 0.8123 0.3641 0.5610 1 dominant HG002 HG002 chr7:36185664:G:T 1,.,. -1 -1 -1 -1 -1 -1 EEPD1 50_intron 39,.,. 0.589744,.,. EEPD1/intron/ 0.8123 0.3641 0.5610 1 dominant HG002 HG002 chr7:36516454:G:C 1,.,. -1 -1 -1 -1 -1 -1 AOAH 50_intron 35,.,. 0.542857,.,. AOAH/intron/;AOAH/non_coding/ 0.0000 0.6902 0.8760 4 recessive HG002 HG002 chr7:36601400:CATCAGGCA:C 2,.,. -1 -1 -1 -1 -1 -1 AOAH 50_intron 32,.,. 1,.,. AOAH/intron/ 0.0000 0.6902 0.8760 4 recessive HG002 HG002 chr7:36601411:A:T 2,.,. -1 -1 -1 -1 -1 -1 AOAH 50_intron 32,.,. 1,.,. AOAH/intron/ 0.0000 0.6902 0.8760 4 recessive HG002 HG002 chr7:36601412:G:C 2,.,. -1 -1 -1 -1 -1 -1 AOAH 50_intron 32,.,. 1,.,. AOAH/intron/ 0.0000 0.6902 0.8760 4 recessive HG002 HG002 chr7:36670858:GAGTA:G 2,.,. -1 -1 -1 -1 -1 -1 AOAH 50_intron 37,.,. 1,.,. AOAH/intron/ 0.0000 0.6902 0.8760 4 recessive HG002 HG002 chr7:36670863:T:C 2,.,. -1 -1 -1 -1 -1 -1 AOAH 50_intron 37,.,. 1,.,. AOAH/intron/ 0.0000 0.6902 0.8760 4 recessive HG002 HG002 chr7:36720799:C:G 2,.,. 6.57678e-06 0 1 -1 -1 -1 AOAH 50_intron 49,.,. 1,.,. AOAH/intron/ 0.0000 0.6902 0.8760 4 recessive HG002 HG002 chr7:36804074:TAGAGATACA:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr7:37155503:A:T 2,.,. 0.000402277 1 53 -1 -1 -1 ELMO1 50_intron 34,.,. 1,.,. ELMO1/intron/;ELMO1/non_coding/ 1.0000 0.2439 0.3430 0 dominant HG002 HG002 chr7:37258735:T:C 1,.,. -1 -1 -1 -1 -1 -1 ELMO1 50_intron 29,.,. 0.448276,.,. ELMO1/intron/ 1.0000 0.2439 0.3430 0 dominant HG002 HG002 chr7:37270881:T:TCTCACA 1,.,. -1 -1 -1 -1 -1 -1 ELMO1 50_intron 15,.,. 0.666667,.,. ELMO1/intron/;ELMO1/non_coding/ 1.0000 0.2439 0.3430 0 dominant HG002 HG002 chr7:37270898:C:G 1,.,. 2.75873e-05 0 4 -1 -1 -1 ELMO1 50_intron 26,.,. 0.384615,.,. ELMO1/intron/;ELMO1/non_coding/ 1.0000 0.2439 0.3430 0 dominant HG002 HG002 chr7:37291956:T:C 1,.,. -1 -1 -1 -1 -1 -1 ELMO1 50_intron 27,.,. 0.37037,.,. ELMO1/intron/;ELMO1/non_coding/ 1.0000 0.2439 0.3430 0 recessive HG002 HG002 chr7:37453211:A:AAC 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr7:37453212:C:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr7:37681679:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr7:38002888:A:T 1,.,. -1 -1 -1 -1 -1 -1 SFRP4 50_intron 48,.,. 0.625,.,. SFRP4/intron/ 0.0004 0.5840 0.8570 3 Pyle metaphyseal dysplasia 0.000 dominant HG002 HG002 chr7:38066297:A:ATTTATGTAT 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr7:38066298:A:T 1,.,. 6.6241e-06 0 1 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr7:38128710:CT:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.571429,.,. dominant HG002 HG002 chr7:38142406:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr7:38201697:G:T 1,.,. -1 -1 -1 -1 -1 -1 STARD3NL 50_intron 38,.,. 0.5,.,. STARD3NL/intron/;STARD3NL/non_coding/ 0.0850 0.4591 0.7440 3 dominant HG002 HG002 chr7:38269947:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr7:38283242:C:T 1,.,. 1.33294e-05 0 2 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr7:38760561:CTTAT:C 1,.,. 3.06143e-05 0 4 -1 -1 -1 VPS41 50_intron 30,.,. 0.333333,.,. VPS41/intron/;VPS41/non_coding/ 0.0000 0.7232 0.9040 4 Spinocerebellar ataxia, autosomal recessive 29 0.000 dominant HG002 HG002 chr7:39342188:G:T 1,.,. -1 -1 -1 -1 -1 -1 POU6F2 50_intron 38,.,. 0.5,.,. POU6F2/intron/;POU6F2/non_coding/ 0.0301 0.4388 0.5920 2 Wilms tumor 5 0.000 dominant HG002 HG002 chr7:39993421:C:T 1,.,. 6.57765e-06 0 1 -1 -1 -1 CDK13 50_intron 39,.,. 0.410256,.,. CDK13/intron/;CDK13/non_coding/ 0.9999 0.3150 0.4340 1 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0.000 dominant HG002 HG002 chr7:40058707:AGAAGTT:A 1,.,. -1 -1 -1 -1 -1 -1 CDK13 50_intron 35,.,. 0.657143,.,. CDK13/intron/ 0.9999 0.3150 0.4340 1 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0.000 dominant HG002 HG002 chr7:40717920:TCTC:T 1,.,. 6.57929e-06 0 1 -1 -1 -1 SUGCT 50_intron 41,.,. 0.463415,.,. SUGCT/intron/ 0.0000 0.8081 1.1450 6 Glutaryl-CoA oxidase deficiency 0.000 recessive HG002 HG002 chr7:41042065:G:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr7:41042066:A:ACCACT 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr7:41042070:T:G 2,.,. 0.00258876 0 7 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chr7:41278082:C:T 1,.,. 1.31902e-05 0 2 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr7:41425052:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr7:41549567:A:T 1,.,. 1.71013e-05 0 2 -1 -1 -1 55,.,. 0.327273,.,. dominant HG002 HG002 chr7:41788104:C:T 1,.,. 6.57307e-06 0 1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr7:42102628:G:A 1,.,. 6.5703e-06 0 1 -1 -1 -1 GLI3 50_intron 27,.,. 0.481481,.,. GLI3/intron/ 1.0000 0.2053 0.2980 0 Greig cephalopolysyndactyly syndrome;Polydactyly, postaxial, type A1;Pallister-Hall syndrome;Polysyndactyly 4 0.000 dominant HG002 HG002 chr7:42624506:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr7:42624508:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr7:42624509:G:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr7:42624510:C:A 1,.,. 1.72718e-05 0 1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr7:42624511:A:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr7:42860481:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr7:42908939:TTCTG:T 1,.,. -1 -1 -1 -1 -1 -1 C7orf25 36_3_prime_utr 41,.,. 0.390244,.,. C7orf25/3_prime_utr/ENST00000350427 0.0159 0.5081 0.7940 3 dominant HG002 HG002 chr7:42908945:A:T 1,.,. -1 -1 -1 -1 -1 -1 C7orf25 36_3_prime_utr 39,.,. 0.410256,.,. C7orf25/3_prime_utr/ENST00000350427 0.0159 0.5081 0.7940 3 dominant HG002 HG002 chr7:43137527:C:CATTTATTT 1,.,. -1 -1 -1 -1 -1 -1 HECW1 50_intron 30,.,. 0.2,.,. HECW1/non_coding/;HECW1/intron/ 1.0000 0.3323 0.4230 1 dominant HG002 HG002 chr7:43446154:T:G 1,.,. 6.59144e-06 0 1 -1 -1 -1 HECW1 50_intron 34,.,. 0.441176,.,. HECW1/intron/ 1.0000 0.3323 0.4230 1 dominant HG002 HG002 chr7:43581096:T:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr7:43793149:C:T 1,.,. 2.62867e-05 0 4 -1 -1 -1 BLVRA 50_intron 34,.,. 0.441176,.,. BLVRA/intron/ 0.0001 0.6000 0.8570 3 Hyperbiliverdinemia 0.000 dominant HG002 HG002 chr7:44829600:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 H2AZ2 36_3_prime_utr 37,.,. 0.486486,.,. H2AZ2/3_prime_utr/ENST00000222690 0.2011 0.4643 1.0620 5 dominant HG002 HG002 chr7:44829604:A:G 1,.,. 0.000268456 0 4 -1 -1 -1 H2AZ2 36_3_prime_utr 33,.,. 0.545455,.,. H2AZ2/3_prime_utr/ENST00000222690 0.2011 0.4643 1.0620 5 dominant HG002 HG002 chr7:44907006:CTTTACATTAT:C 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.590909,.,. dominant HG002 HG002 chr7:44907018:G:A 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.590909,.,. dominant HG002 HG002 chr7:44939108:CT:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr7:45275816:T:TCTTTGAAAAG 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr7:45275818:G:GA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr7:45275820:T:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr7:45485835:A:AAAC 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr7:45583948:T:G 1,.,. -1 -1 -1 -1 -1 -1 ADCY1 50_intron 31,.,. 0.322581,.,. ADCY1/intron/ 1.0000 0.2477 0.3460 0 Autosomal recessive nonsyndromic hearing loss 44 0.000 dominant HG002 HG002 chr7:45771892:CTTTTTCTGTTTTTT:C 1,.,. -1 -1 -1 -1 -1 -1 GTF2IP13 53_non_coding 32,.,. 0.46875,.,. GTF2IP13/non_coding/ dominant HG002 HG002 chr7:45771908:T:G 1,.,. 2.44332e-05 0 2 -1 -1 -1 GTF2IP13 53_non_coding 37,.,. 0.405405,.,. GTF2IP13/non_coding/ dominant HG002 HG002 chr7:45806075:A:AGGCAGTAT 1,.,. -1 -1 -1 -1 -1 -1 GTF2IP13 53_non_coding 36,.,. 0.444444,.,. GTF2IP13/non_coding/ dominant HG002 HG002 chr7:46052481:C:CTCTTTTT 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr7:46052482:C:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.511111,.,. recessive HG002 HG002 chr7:46772053:T:TATGTTAATTCATGA 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr7:46772054:G:A 2,.,. 6.58441e-06 0 1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr7:46772055:C:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr7:47125548:A:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.581395,.,. dominant HG002 HG002 chr7:47447066:T:A 1,.,. 1.28684e-05 0 1 -1 -1 -1 TNS3 50_intron 36,.,. 0.555556,.,. TNS3/intron/ 1.0000 0.3304 0.4270 1 dominant HG002 HG002 chr7:47764005:T:G 1,.,. 1.32162e-05 0 2 0.00140154 0 4 PKD1L1 50_intron 41,.,. 0.487805,.,. PKD1L1/intron/ 0.0000 0.7084 0.7930 3 Heterotaxy, visceral, 8, autosomal 0.000 dominant HG002 HG002 chr7:47764341:G:A 1,.,. -1 -1 -1 -1 -1 -1 PKD1L1 50_intron 42,.,. 0.5,.,. PKD1L1/intron/ 0.0000 0.7084 0.7930 3 Heterotaxy, visceral, 8, autosomal 0.000 dominant HG002 HG002 chr7:47764349:T:G 1,.,. -1 -1 -1 -1 -1 -1 PKD1L1 50_intron 42,.,. 0.5,.,. PKD1L1/intron/ 0.0000 0.7084 0.7930 3 Heterotaxy, visceral, 8, autosomal 0.000 dominant HG002 HG002 chr7:47957860:A:AATATATATATATATAT 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.341463,.,. recessive HG002 HG002 chr7:48194865:T:TTA 2,.,. -1 -1 -1 -1 -1 -1 ABCA13 50_intron 34,.,. 1,.,. ABCA13/intron/ 0.0000 0.9807 1.0630 5 recessive HG002 HG002 chr7:48194866:A:T 2,.,. -1 -1 -1 -1 -1 -1 ABCA13 50_intron 34,.,. 1,.,. ABCA13/intron/ 0.0000 0.9807 1.0630 5 dominant HG002 HG002 chr7:48411143:CTTTTCT:C 1,.,. -1 -1 -1 -1 -1 -1 ABCA13 50_intron 37,.,. 0.621622,.,. ABCA13/intron/;ABCA13/non_coding/ 0.0000 0.9807 1.0630 5 dominant HG002 HG002 chr7:48422108:G:GAGGA 1,.,. -1 -1 -1 -1 -1 -1 ABCA13 50_intron 39,.,. 0.461538,.,. ABCA13/intron/;ABCA13/non_coding/ 0.0000 0.9807 1.0630 5 dominant HG002 HG002 chr7:48422112:G:A 1,.,. 1.3403e-05 0 2 -1 -1 -1 ABCA13 50_intron 38,.,. 0.473684,.,. ABCA13/intron/;ABCA13/non_coding/ 0.0000 0.9807 1.0630 5 dominant HG002 HG002 chr7:48425722:T:TGTCTTA 1,.,. -1 -1 -1 -1 -1 -1 ABCA13 50_intron 38,.,. 0.447368,.,. ABCA13/intron/;ABCA13/non_coding/ 0.0000 0.9807 1.0630 5 dominant HG002 HG002 chr7:48425723:A:T 1,.,. -1 -1 -1 -1 -1 -1 ABCA13 50_intron 38,.,. 0.447368,.,. ABCA13/intron/;ABCA13/non_coding/ 0.0000 0.9807 1.0630 5 dominant HG002 HG002 chr7:48683089:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. recessive HG002 HG002 chr7:50527014:GTGTGAGAT:G 2,.,. -1 -1 -1 -1 -1 -1 FIGNL1;DDC 50_intron 38,.,. 1,.,. FIGNL1/intron/;DDC/intron/ 0.5907;;0.0000 0.3795;;0.7055 0.6150;;0.9220 2;;4 Deficiency of aromatic-L-amino-acid decarboxylase 0.000 recessive HG002 HG002 chr7:50527023:T:A 2,.,. -1 -1 -1 -1 -1 -1 FIGNL1;DDC 50_intron 38,.,. 1,.,. FIGNL1/intron/;DDC/intron/ 0.5907;;0.0000 0.3795;;0.7055 0.6150;;0.9220 2;;4 Deficiency of aromatic-L-amino-acid decarboxylase 0.000 dominant HG002 HG002 chr7:50998085:CCAGGT:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr7:50998091:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr7:51433880:AGT:A 1,.,. 1.32862e-05 0 1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr7:51567065:C:CTGAGTGTGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr7:51606612:G:GTGTGGCCCCCGGTGCTAGCGTTGACTGTGCATGCCCGT 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.404762,.,. dominant HG002 HG002 chr7:51606615:T:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr7:51606619:T:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr7:51606620:G:GGGACA 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr7:51888715:T:TTTGATGAAAGA 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.6,.,. dominant HG002 HG002 chr7:51888719:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.6,.,. recessive HG002 HG002 chr7:51934668:T:TTTAGTAA 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr7:51934669:A:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr7:51965459:T:TTTC 1,.,. -1 -1 -1 0.000700771 0 2 31,.,. 0.354839,.,. dominant HG002 HG002 chr7:51977580:TG:T 1,.,. 1.31413e-05 0 2 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr7:51982695:T:A 1,.,. 1.31418e-05 0 2 -1 -1 -1 40,.,. 0.5,.,. recessive HG002 HG002 chr7:52015050:T:TTAA 2,.,. -1 -1 -1 0.00280308 0 8 35,.,. 1,.,. dominant HG002 HG002 chr7:52142456:TG:T 1,.,. 6.57877e-06 0 1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr7:52213334:A:G 1,.,. 6.56996e-06 0 1 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr7:52350641:G:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.234043,.,. dominant HG002 HG002 chr7:52478967:C:G 1,.,. 1.31447e-05 0 2 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr7:52638913:T:C 1,.,. 1.31394e-05 0 2 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr7:52657928:G:A 1,.,. 1.31492e-05 0 2 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr7:52708053:GAACTCTTTGCCC:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr7:52708067:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr7:52796633:A:G 1,.,. 1.35658e-05 0 2 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr7:52801069:A:G 1,.,. 1.31387e-05 0 2 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr7:52817086:C:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.375,.,. dominant HG002 HG002 chr7:52883747:C:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr7:53141837:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr7:53202590:CTCTT:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr7:53202595:G:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. recessive HG002 HG002 chr7:53308378:A:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr7:53579968:C:T 1,.,. 1.98177e-05 0 3 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr7:53815994:G:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr7:53929029:A:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.431373,.,. dominant HG002 HG002 chr7:53960561:G:A 1,.,. 1.97291e-05 0 3 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr7:53960572:G:T 1,.,. 2.63168e-05 0 4 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr7:54033418:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. recessive HG002 HG002 chr7:54096168:C:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr7:54096169:A:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr7:54096172:C:CAGTAGTCAGTGACT 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr7:54158242:T:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr7:54308430:C:A 1,.,. 2.63307e-05 0 4 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr7:54444275:C:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.322581,.,. recessive HG002 HG002 chr7:54624683:A:AATC 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr7:54624686:A:C 2,.,. 0.00245731 3 373 0.000700771 0 2 40,.,. 1,.,. dominant HG002 HG002 chr7:54928450:C:T 1,.,. 1.81864e-05 0 1 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr7:55259718:C:T 1,.,. -1 -1 -1 0.000700771 0 2 39,.,. 0.435897,.,. dominant HG002 HG002 chr7:55328380:C:T 1,.,. 6.56927e-06 0 1 -1 -1 -1 20,.,. 0.7,.,. dominant HG002 HG002 chr7:55356565:T:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr7:55363447:A:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr7:55394470:G:A 1,.,. -1 -1 -1 -1 -1 -1 LANCL2 50_intron 38,.,. 0.342105,.,. LANCL2/intron/;LANCL2/non_coding/ 0.0000 0.6268 0.8460 3 recessive HG002 HG002 chr7:55460080:A:T 2,.,. -1 -1 -1 -1 -1 -1 VOPP1 53_non_coding 38,.,. 1,.,. VOPP1/non_coding/ 0.0310 0.5603 1.0110 5 dominant HG002 HG002 chr7:55706140:C:T 1,.,. -1 -1 -1 -1 -1 -1 FKBP9P1 53_non_coding 32,.,. 0.59375,.,. FKBP9P1/non_coding/ dominant HG002 HG002 chr7:55756419:G:T 1,.,. 6.57903e-06 0 1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr7:55756420:G:T 1,.,. 6.58033e-06 0 1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr7:56001563:T:G 1,.,. 1.32336e-05 0 2 -1 -1 -1 32,.,. 0.53125,.,. recessive HG002 HG002 chr7:56089446:ATCTCTG:A 2,.,. -1 -1 -1 -1 -1 -1 PHKG1 50_intron 32,.,. 1,.,. PHKG1/intron/;PHKG1/non_coding/ 0.0000 1.0250 1.3140 7 recessive HG002 HG002 chr7:56089453:T:G 2,.,. -1 -1 -1 -1 -1 -1 PHKG1 50_intron 32,.,. 1,.,. PHKG1/intron/;PHKG1/non_coding/ 0.0000 1.0250 1.3140 7 dominant HG002 HG002 chr7:56092477:T:C 1,.,. -1 -1 -1 -1 -1 -1 PHKG1 50_intron 37,.,. 0.513514,.,. PHKG1/intron/;PHKG1/non_coding/ 0.0000 1.0250 1.3140 7 dominant HG002 HG002 chr7:56194343:T:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr7:56268509:C:T 1,.,. -1 -1 -1 0.00140154 0 4 23,.,. 0.652174,.,. dominant HG002 HG002 chr7:56435244:A:AAAT 1,.,. -1 -1 -1 -1 -1 -1 AC092447.7 53_non_coding 53,.,. 0.339623,.,. AC092447.7/non_coding/ dominant HG002 HG002 chr7:56520525:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr7:56734918:AAACAAAAC:A 1,.,. -1 -1 -1 0.00105116 0 3 24,.,. 0.333333,.,. dominant HG002 HG002 chr7:56864473:A:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr7:56876741:CT:C 1,.,. -1 -1 -1 -1 -1 -1 AC118758.1 53_non_coding 37,.,. 0.675676,.,. AC118758.1/non_coding/ recessive HG002 HG002 chr7:57256540:G:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr7:57297551:G:A 1,.,. 2.69067e-05 0 4 -1 -1 -1 40,.,. 0.375,.,. recessive HG002 HG002 chr7:57491278:AATT:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr7:57677928:C:T 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.481481,.,. dominant HG002 HG002 chr7:57722132:C:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.392157,.,. dominant HG002 HG002 chr7:57781824:A:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr7:57783537:G:C 1,.,. 1.97163e-05 0 3 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr7:57859549:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr7:57888416:G:A 1,.,. 1.32055e-05 0 2 -1 -1 -1 34,.,. 0.529412,.,. recessive HG002 HG002 chr7:57899477:C:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr7:57899511:T:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr7:57899562:A:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr7:57899570:A:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr7:57899574:C:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr7:57899590:C:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr7:57899594:T:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr7:57899602:T:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. dominant HG002 HG002 chr7:57936225:CA:C 1,.,. 1.99126e-05 0 3 -1 -1 -1 43,.,. 0.534884,.,. recessive HG002 HG002 chr7:58250888:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr7:58250890:T:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr7:58272649:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr7:58376577:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr7:58376579:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr7:58383386:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr7:58383388:T:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr7:58492060:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr7:58492062:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr7:58662391:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr7:58662393:T:C 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr7:58718607:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr7:58718609:T:C 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr7:58847920:T:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 0.985075,.,. recessive HG002 HG002 chr7:59128260:T:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr7:59153926:A:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr7:59153928:G:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr7:59153929:T:G 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr7:59170457:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr7:59170459:T:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr7:59238593:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr7:59475872:C:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr7:59841400:C:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr7:59892721:CGA:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:59892724:G:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:60012108:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr7:60012110:T:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr7:60128735:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr7:60129758:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr7:60133017:C:T 2,.,. -1 -1 -1 0.00140154 2 4 25,.,. 1,.,. recessive HG002 HG002 chr7:60133219:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr7:60133510:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr7:60135301:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr7:60135555:G:A 2,.,. -1 -1 -1 0.00875964 0 25 25,.,. 1,.,. recessive HG002 HG002 chr7:60135965:A:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr7:60136085:C:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr7:60136930:G:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr7:60138438:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr7:60138469:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr7:60138482:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr7:60138545:G:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr7:60138566:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr7:60138571:A:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr7:60138597:A:T 2,.,. -1 -1 -1 0.019972 1 57 31,.,. 1,.,. recessive HG002 HG002 chr7:60138604:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr7:60138628:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr7:60138670:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr7:60138686:C:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr7:60138692:G:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr7:60138698:C:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr7:60138704:T:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr7:60138710:C:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr7:60138718:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr7:60138745:G:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr7:60138746:C:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr7:60138756:T:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr7:60138781:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr7:60139174:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr7:60139204:G:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr7:60139278:T:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr7:60139279:G:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr7:60139326:G:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr7:60139443:T:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr7:60139620:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr7:60139731:C:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr7:60139984:G:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr7:60140514:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr7:60140715:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr7:60141006:G:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr7:60152111:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr7:60152113:T:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr7:60280960:T:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr7:60501900:G:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr7:60505868:T:C 2,.,. -1 -1 -1 0.00315347 1 9 9,.,. 1,.,. recessive HG002 HG002 chr7:60510534:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr7:60510536:T:C 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr7:60611422:A:C 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr7:60611423:T:C 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr7:60611432:A:C 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr7:60661049:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.987097,.,. recessive HG002 HG002 chr7:60810275:A:G 2,.,. -1 -1 -1 0.00560617 2 16 242,.,. 0.983471,.,. dominant HG002 HG002 chr7:60916720:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr7:60926661:CT:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr7:60943808:A:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.333333,.,. dominant HG002 HG002 chr7:60960033:C:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr7:60960497:C:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr7:60978220:C:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.391304,.,. dominant HG002 HG002 chr7:60980648:A:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr7:60980649:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr7:61001180:T:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr7:61023779:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr7:61040549:TCGAATGGAATCAA:T 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.5,.,. dominant HG002 HG002 chr7:61042707:A:G 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.444444,.,. dominant HG002 HG002 chr7:61055319:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr7:61068491:G:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr7:61069315:A:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr7:61071562:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.404762,.,. dominant HG002 HG002 chr7:61086584:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr7:61288872:T:G 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.535714,.,. dominant HG002 HG002 chr7:61310398:C:T 1,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.32,.,. dominant HG002 HG002 chr7:61310584:A:T 1,.,. -1 -1 -1 -1 -1 -1 76,.,. 0.315789,.,. recessive HG002 HG002 chr7:61392811:A:C 2,.,. -1 -1 -1 0.00455501 4 13 6,.,. 1,.,. recessive HG002 HG002 chr7:61427749:C:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr7:61427813:G:A 2,.,. -1 -1 -1 0.00280308 4 8 7,.,. 1,.,. recessive HG002 HG002 chr7:61427987:A:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr7:61428233:T:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. dominant HG002 HG002 chr7:61788105:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.394737,.,. dominant HG002 HG002 chr7:61809489:T:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.481481,.,. dominant HG002 HG002 chr7:61969424:G:A 1,.,. -1 -1 -1 -1 -1 -1 15,.,. 0.733333,.,. dominant HG002 HG002 chr7:61972230:G:T 1,.,. 2.03116e-05 0 2 -1 -1 -1 9,.,. 0.222222,.,. dominant HG002 HG002 chr7:62158885:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.606061,.,. dominant HG002 HG002 chr7:62168517:G:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr7:62194686:C:T 1,.,. 1.98707e-05 0 3 -1 -1 -1 51,.,. 0.45098,.,. dominant HG002 HG002 chr7:62259619:A:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.282609,.,. dominant HG002 HG002 chr7:62270635:TTTTTTTTTTATTTTTTTTATTTTTTTATTTTTTATTTATTTTTTTAATTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTACTGTGAATAG:T 1,.,. -1 -1 -1 -1 -1 -1 93,.,. 0.612903,.,. dominant HG002 HG002 chr7:62375685:T:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr7:62411207:GTGAC:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr7:62411229:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr7:62411237:A:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr7:62411267:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. recessive HG002 HG002 chr7:62507902:G:T 2,.,. 2.77816e-05 0 2 0.000700771 0 2 10,.,. 1,.,. recessive HG002 HG002 chr7:62507906:A:G 2,.,. -1 -1 -1 0.00105116 0 3 10,.,. 1,.,. recessive HG002 HG002 chr7:62508130:C:G 2,.,. -1 -1 -1 0.00805886 4 23 12,.,. 1,.,. recessive HG002 HG002 chr7:62508155:G:A 2,.,. 4.70072e-05 1 3 0.00525578 0 15 12,.,. 1,.,. recessive HG002 HG002 chr7:62508171:G:C 2,.,. -1 -1 -1 0.00981079 0 28 12,.,. 1,.,. recessive HG002 HG002 chr7:62508214:G:A 2,.,. -1 -1 -1 0.00315347 0 9 12,.,. 1,.,. recessive HG002 HG002 chr7:62508222:A:T 2,.,. -1 -1 -1 0.00315347 0 9 12,.,. 1,.,. recessive HG002 HG002 chr7:62508226:T:C 2,.,. 6.8135e-05 0 8 0.00350385 0 10 12,.,. 1,.,. recessive HG002 HG002 chr7:62508231:A:T 2,.,. -1 -1 -1 0.00175193 1 5 12,.,. 1,.,. recessive HG002 HG002 chr7:62508233:A:T 2,.,. -1 -1 -1 0.00280308 0 8 12,.,. 1,.,. recessive HG002 HG002 chr7:62508250:A:T 2,.,. -1 -1 -1 0.00525578 1 15 12,.,. 1,.,. recessive HG002 HG002 chr7:62508275:G:C 2,.,. -1 -1 -1 0.00175193 1 5 12,.,. 1,.,. recessive HG002 HG002 chr7:62508291:A:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:62508311:A:G 2,.,. 1.54311e-05 0 2 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:62508322:A:C 2,.,. 0.000203732 0 25 0.00420463 2 12 12,.,. 1,.,. recessive HG002 HG002 chr7:62508325:C:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr7:62508356:G:T 2,.,. 0.000122382 0 14 0.00175193 1 5 12,.,. 1,.,. recessive HG002 HG002 chr7:62508372:C:G 2,.,. 0.00163265 0 144 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:62508395:T:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:62508396:T:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:62508402:A:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:62508426:C:G 2,.,. -1 -1 -1 0.0049054 3 14 12,.,. 1,.,. recessive HG002 HG002 chr7:62508435:C:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:62508439:C:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:62508440:A:T 2,.,. -1 -1 -1 0.00105116 0 3 12,.,. 1,.,. recessive HG002 HG002 chr7:62508442:T:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:62508451:A:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:62508461:A:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr7:62508462:A:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr7:62508467:A:T 2,.,. -1 -1 -1 0.00105116 0 3 13,.,. 1,.,. recessive HG002 HG002 chr7:62508493:A:C 2,.,. -1 -1 -1 0.00350385 1 10 13,.,. 1,.,. recessive HG002 HG002 chr7:62508495:T:G 2,.,. 7.85053e-05 0 1 0.00350385 1 10 13,.,. 1,.,. recessive HG002 HG002 chr7:62508523:T:G 2,.,. -1 -1 -1 0.00805886 3 23 13,.,. 1,.,. recessive HG002 HG002 chr7:62508548:C:G 2,.,. -1 -1 -1 0.00875964 3 25 13,.,. 1,.,. recessive HG002 HG002 chr7:62508662:C:A 2,.,. -1 -1 -1 0.0143658 3 41 13,.,. 1,.,. recessive HG002 HG002 chr7:62508679:T:C 2,.,. -1 -1 -1 0.0119131 3 34 13,.,. 1,.,. recessive HG002 HG002 chr7:62508764:G:C 2,.,. -1 -1 -1 0.00630694 1 18 13,.,. 1,.,. recessive HG002 HG002 chr7:62508766:G:C 2,.,. -1 -1 -1 0.0115627 4 33 13,.,. 1,.,. recessive HG002 HG002 chr7:62508837:T:C 2,.,. -1 -1 -1 0.00770848 4 22 13,.,. 1,.,. recessive HG002 HG002 chr7:62508848:T:C 2,.,. -1 -1 -1 0.00455501 2 13 13,.,. 1,.,. recessive HG002 HG002 chr7:62509125:A:T 2,.,. -1 -1 -1 0.00700771 3 20 13,.,. 1,.,. recessive HG002 HG002 chr7:62509205:G:T 2,.,. -1 -1 -1 0.0147162 4 42 14,.,. 1,.,. recessive HG002 HG002 chr7:62514723:T:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chr7:62519666:ACATG:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.314286,.,. dominant HG002 HG002 chr7:62519671:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.305556,.,. recessive HG002 HG002 chr7:62542011:T:A 2,.,. -1 -1 -1 0.00385424 1 11 14,.,. 1,.,. recessive HG002 HG002 chr7:62542029:G:A 2,.,. -1 -1 -1 0.00315347 1 9 14,.,. 1,.,. recessive HG002 HG002 chr7:62542048:A:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr7:62542185:G:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr7:62542226:A:T 2,.,. -1 -1 -1 0.0024527 2 7 14,.,. 1,.,. recessive HG002 HG002 chr7:62542250:G:A 2,.,. -1 -1 -1 0.0024527 3 7 14,.,. 1,.,. recessive HG002 HG002 chr7:62542526:G:A 2,.,. 1.97118e-05 0 2 0.000700771 0 2 11,.,. 1,.,. recessive HG002 HG002 chr7:62543660:A:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr7:62543778:G:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr7:62543781:T:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr7:62543830:A:G 2,.,. 9.51366e-06 0 1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr7:62543852:T:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr7:62543859:T:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr7:62543871:G:A 2,.,. -1 -1 -1 0.00105116 1 3 11,.,. 1,.,. recessive HG002 HG002 chr7:62543872:G:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr7:62543879:A:G 2,.,. -1 -1 -1 0.00210231 3 6 11,.,. 1,.,. recessive HG002 HG002 chr7:62543890:A:T 2,.,. -1 -1 -1 0.00210231 3 6 11,.,. 1,.,. recessive HG002 HG002 chr7:62543916:T:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr7:62543930:G:A 2,.,. -1 -1 -1 0.00210231 3 6 11,.,. 1,.,. recessive HG002 HG002 chr7:62543936:C:G 2,.,. 1.87413e-05 0 2 0.00210231 3 6 10,.,. 1,.,. recessive HG002 HG002 chr7:62543938:A:C 2,.,. -1 -1 -1 0.00210231 3 6 11,.,. 1,.,. recessive HG002 HG002 chr7:62543971:T:C 2,.,. -1 -1 -1 0.0024527 3 7 12,.,. 1,.,. recessive HG002 HG002 chr7:62543973:A:G 2,.,. -1 -1 -1 0.0024527 3 7 12,.,. 1,.,. recessive HG002 HG002 chr7:62543998:G:A 2,.,. 5.17652e-05 1 5 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:62544020:G:T 2,.,. -1 -1 -1 0.0024527 3 7 12,.,. 1,.,. recessive HG002 HG002 chr7:62544022:A:T 2,.,. -1 -1 -1 0.0024527 3 7 12,.,. 1,.,. recessive HG002 HG002 chr7:62544023:G:T 2,.,. -1 -1 -1 0.00210231 3 6 12,.,. 1,.,. recessive HG002 HG002 chr7:62544040:G:T 2,.,. -1 -1 -1 0.00210231 3 6 12,.,. 1,.,. recessive HG002 HG002 chr7:62544048:A:C 2,.,. -1 -1 -1 0.00210231 3 6 12,.,. 1,.,. recessive HG002 HG002 chr7:62544070:T:C 2,.,. -1 -1 -1 0.0024527 3 7 12,.,. 1,.,. recessive HG002 HG002 chr7:62544095:C:T 2,.,. -1 -1 -1 0.00210231 3 6 12,.,. 1,.,. recessive HG002 HG002 chr7:62544099:G:A 2,.,. -1 -1 -1 0.00315347 3 9 12,.,. 1,.,. recessive HG002 HG002 chr7:62544117:T:A 2,.,. -1 -1 -1 0.00315347 3 9 12,.,. 1,.,. recessive HG002 HG002 chr7:62544126:G:T 2,.,. 0.000109468 0 11 0.0024527 3 7 12,.,. 1,.,. recessive HG002 HG002 chr7:62544147:C:T 2,.,. 1.87741e-05 0 2 0.00280308 3 8 12,.,. 1,.,. recessive HG002 HG002 chr7:62544157:G:A 2,.,. 0.000550606 0 55 0.0140154 4 40 12,.,. 1,.,. recessive HG002 HG002 chr7:62544160:C:G 2,.,. -1 -1 -1 0.00875964 3 25 12,.,. 1,.,. recessive HG002 HG002 chr7:62544182:A:T 2,.,. -1 -1 -1 0.0049054 3 14 12,.,. 1,.,. recessive HG002 HG002 chr7:62544193:T:A 2,.,. -1 -1 -1 0.01822 3 52 12,.,. 1,.,. recessive HG002 HG002 chr7:62544194:T:A 2,.,. -1 -1 -1 0.0234758 3 67 12,.,. 1,.,. recessive HG002 HG002 chr7:62544196:C:A 2,.,. 9.72252e-06 0 1 0.0192712 3 55 12,.,. 1,.,. recessive HG002 HG002 chr7:62544201:G:A 2,.,. -1 -1 -1 0.0112123 3 32 12,.,. 1,.,. recessive HG002 HG002 chr7:62544214:A:G 2,.,. -1 -1 -1 0.0259285 3 74 12,.,. 1,.,. recessive HG002 HG002 chr7:62544218:T:A 2,.,. -1 -1 -1 0.0297828 3 85 12,.,. 1,.,. recessive HG002 HG002 chr7:62544247:T:G 2,.,. 1.94167e-05 0 2 0.0178697 3 51 12,.,. 1,.,. recessive HG002 HG002 chr7:62544257:G:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:62544258:C:T 2,.,. 4.97206e-05 2 5 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:62544259:T:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr7:62544263:C:T 2,.,. -1 -1 -1 0.0119131 3 34 12,.,. 1,.,. recessive HG002 HG002 chr7:62544264:T:C 2,.,. -1 -1 -1 0.0108619 4 31 12,.,. 1,.,. recessive HG002 HG002 chr7:62544293:T:G 2,.,. -1 -1 -1 0.00455501 3 13 12,.,. 1,.,. recessive HG002 HG002 chr7:62544317:A:G 2,.,. -1 -1 -1 0.0105116 3 30 12,.,. 1,.,. recessive HG002 HG002 chr7:62544356:A:G 2,.,. -1 -1 -1 0.00560617 3 16 12,.,. 1,.,. recessive HG002 HG002 chr7:62544362:G:C 2,.,. -1 -1 -1 0.00840925 3 24 12,.,. 1,.,. recessive HG002 HG002 chr7:62544363:G:T 2,.,. -1 -1 -1 0.00981079 3 28 12,.,. 1,.,. recessive HG002 HG002 chr7:62544366:T:C 2,.,. -1 -1 -1 0.00595655 3 17 12,.,. 1,.,. recessive HG002 HG002 chr7:62544368:T:C 2,.,. -1 -1 -1 0.0115627 3 33 12,.,. 1,.,. recessive HG002 HG002 chr7:62544382:T:G 2,.,. -1 -1 -1 0.00350385 3 10 12,.,. 1,.,. recessive HG002 HG002 chr7:62544385:G:A 2,.,. -1 -1 -1 0.00875964 3 25 12,.,. 1,.,. recessive HG002 HG002 chr7:62544390:C:G 2,.,. -1 -1 -1 0.00525578 4 15 12,.,. 1,.,. recessive HG002 HG002 chr7:62544396:A:G 2,.,. -1 -1 -1 0.0049054 3 14 12,.,. 1,.,. recessive HG002 HG002 chr7:62544418:A:C 2,.,. -1 -1 -1 0.00525578 4 15 12,.,. 1,.,. recessive HG002 HG002 chr7:62544429:A:C 2,.,. -1 -1 -1 0.00280308 2 8 12,.,. 1,.,. recessive HG002 HG002 chr7:62544437:C:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. dominant HG002 HG002 chr7:62593150:T:A 1,.,. 1.97621e-05 0 3 -1 -1 -1 26,.,. 0.307692,.,. dominant HG002 HG002 chr7:62740106:T:A 1,.,. 1.96956e-05 0 3 -1 -1 -1 54,.,. 0.481481,.,. dominant HG002 HG002 chr7:62822546:G:A 1,.,. 1.97537e-05 0 3 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr7:62830240:C:T 1,.,. 1.983e-05 0 3 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr7:62913228:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.642857,.,. dominant HG002 HG002 chr7:62924839:TA:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr7:63048143:G:A 1,.,. 6.57047e-06 0 1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr7:63110395:C:CAG 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr7:63110397:A:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. recessive HG002 HG002 chr7:63422073:TTC:T 2,.,. -1 -1 -1 0.0210231 1 60 18,.,. 1,.,. recessive HG002 HG002 chr7:63424481:G:A 2,.,. -1 -1 -1 0.00595655 4 17 14,.,. 1,.,. dominant HG002 HG002 chr7:63485134:C:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr7:63732266:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr7:63738824:A:G 1,.,. 5.63253e-05 0 1 -1 -1 -1 26,.,. 0.576923,.,. dominant HG002 HG002 chr7:63774123:G:A 1,.,. -1 -1 -1 0.00105116 0 3 31,.,. 0.483871,.,. dominant HG002 HG002 chr7:64007214:T:TTGTG 1,.,. -1 -1 -1 -1 -1 -1 ZNF722P 50_intron 37,.,. 0.486486,.,. ZNF722P/intron/ 0.3704 0.3267 1.4460 8 dominant HG002 HG002 chr7:64076244:C:T 1,.,. -1 -1 -1 -1 -1 -1 ZNF727 50_intron 31,.,. 0.548387,.,. ZNF727/intron/ 0.0003 1.0995 1.7820 8 dominant HG002 HG002 chr7:64153984:A:AATTT 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.37931,.,. dominant HG002 HG002 chr7:64153985:T:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr7:64309305:C:T 1,.,. -1 -1 -1 -1 -1 -1 ZNF736 53_non_coding 26,.,. 0.461538,.,. ZNF736/non_coding/ 0.0177 0.6491 1.2180 6 dominant HG002 HG002 chr7:64644994:TTCTTTA:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. recessive HG002 HG002 chr7:64810569:A:T 2,.,. -1 -1 -1 -1 -1 -1 ZNF138 50_intron 30,.,. 1,.,. ZNF138/intron/;ZNF138/non_coding/ 0.0000 0.9821 1.3130 7 recessive HG002 HG002 chr7:64810570:T:TATAACATATGCTTA 2,.,. -1 -1 -1 -1 -1 -1 ZNF138 50_intron 30,.,. 1,.,. ZNF138/intron/;ZNF138/non_coding/ 0.0000 0.9821 1.3130 7 recessive HG002 HG002 chr7:64821149:GTGCAATCTCGGCTCGC:G 2,.,. 0.00171233 0 2 -1 -1 -1 ZNF138 50_intron 36,.,. 1,.,. ZNF138/intron/;ZNF138/non_coding/ 0.0000 0.9821 1.3130 7 recessive HG002 HG002 chr7:64821166:T:C 2,.,. -1 -1 -1 -1 -1 -1 ZNF138 50_intron 36,.,. 1,.,. ZNF138/intron/;ZNF138/non_coding/ 0.0000 0.9821 1.3130 7 recessive HG002 HG002 chr7:64929128:G:T 2,.,. -1 -1 -1 -1 -1 -1 ZNF273 36_3_prime_utr 48,.,. 1,.,. ZNF273/3_prime_utr&NMD_transcript/ENST00000395375;ZNF273/3_prime_utr/ENST00000476120 0.0000 0.8493 1.2900 7 recessive HG002 HG002 chr7:64929130:G:A 2,.,. -1 -1 -1 -1 -1 -1 ZNF273 36_3_prime_utr 48,.,. 1,.,. ZNF273/3_prime_utr&NMD_transcript/ENST00000395375;ZNF273/3_prime_utr/ENST00000476120 0.0000 0.8493 1.2900 7 recessive HG002 HG002 chr7:64929132:T:TCTCA 2,.,. -1 -1 -1 -1 -1 -1 ZNF273 36_3_prime_utr 49,.,. 1,.,. ZNF273/3_prime_utr&NMD_transcript/ENST00000395375;ZNF273/3_prime_utr/ENST00000476120 0.0000 0.8493 1.2900 7 dominant HG002 HG002 chr7:64952999:G:C 1,.,. 1.39462e-05 0 1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr7:65022214:C:T 1,.,. 6.57186e-06 0 1 -1 -1 -1 34,.,. 0.382353,.,. recessive HG002 HG002 chr7:65084156:CTGG:C 2,.,. -1 -1 -1 -1 -1 -1 GTF2IP14 53_non_coding 25,.,. 1,.,. GTF2IP14/non_coding/ recessive HG002 HG002 chr7:65084161:AGGCAGTGACACACAGCCTGTTCCGGAGCCTGCCAATGATGG:A 2,.,. -1 -1 -1 -1 -1 -1 GTF2IP14 53_non_coding 25,.,. 1,.,. GTF2IP14/non_coding/ dominant HG002 HG002 chr7:65167255:G:A 1,.,. -1 -1 -1 -1 -1 -1 INTS4P1 53_non_coding 44,.,. 0.568182,.,. INTS4P1/non_coding/ dominant HG002 HG002 chr7:65273541:A:C 1,.,. 2.65372e-05 0 4 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr7:65452848:A:AAAAAAG 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr7:65505933:TTCATTTCATCATTTCA:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr7:65728116:G:A 1,.,. -1 -1 -1 0.00140154 0 4 AC073107.1 53_non_coding 33,.,. 0.393939,.,. AC073107.1/non_coding/ dominant HG002 HG002 chr7:65755655:CATTAT:C 1,.,. -1 -1 -1 -1 -1 -1 AC073107.1;CCT6P1;SNORA22 53_non_coding 31,.,. 0.516129,.,. AC073107.1/non_coding/;CCT6P1/non_coding/;SNORA22/non_coding/ dominant HG002 HG002 chr7:65833107:A:G 1,.,. 2.62781e-05 0 4 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr7:66167851:T:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr7:66286823:T:G 1,.,. 1.42918e-05 0 2 -1 -1 -1 TPST1 50_intron 35,.,. 0.457143,.,. TPST1/intron/;TPST1/non_coding/ 0.0004 0.5716 0.8310 3 dominant HG002 HG002 chr7:66384155:C:T 1,.,. -1 -1 -1 -1 -1 -1 TPST1 53_non_coding 35,.,. 0.285714,.,. TPST1/non_coding/ 0.0004 0.5716 0.8310 3 dominant HG002 HG002 chr7:66483373:AAAAAAC:A 1,.,. -1 -1 -1 -1 -1 -1 AC008267.5 53_non_coding 34,.,. 0.558824,.,. AC008267.5/non_coding/ dominant HG002 HG002 chr7:66688999:A:G 1,.,. 2.62812e-05 0 4 -1 -1 -1 AC027644.4 50_intron 27,.,. 0.518519,.,. AC027644.4/intron/ dominant HG002 HG002 chr7:66809201:C:G 1,.,. -1 -1 -1 -1 -1 -1 RABGEF1;AC027644.4 14_missense 35,.,. 0.6,.,. RABGEF1/missense/ENST00000450873;RABGEF1/missense/ENST00000284957;RABGEF1/missense/ENST00000439720;AC027644.4/3_prime_utr&NMD_transcript/ENST00000503687;RABGEF1/3_prime_utr&NMD_transcript/ENST00000607882;RABGEF1/3_prime_utr&NMD_transcript/ENST00000484547 0.0014 0.4984 0.6910 2 dominant HG002 HG002 chr7:66879832:CTTTAA:C 1,.,. 6.58979e-06 0 1 0.000700771 0 2 33,.,. 0.454545,.,. dominant HG002 HG002 chr7:66895968:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.543478,.,. dominant HG002 HG002 chr7:66949352:TGGCACATGTC:T 1,.,. -1 -1 -1 -1 -1 -1 TMEM248 50_intron 34,.,. 0.382353,.,. TMEM248/intron/;TMEM248/non_coding/ 0.9797 0.2878 0.5020 1 dominant HG002 HG002 chr7:66949364:G:A 1,.,. -1 -1 -1 -1 -1 -1 TMEM248 50_intron 34,.,. 0.382353,.,. TMEM248/intron/;TMEM248/non_coding/ 0.9797 0.2878 0.5020 1 dominant HG002 HG002 chr7:66949365:T:C 1,.,. -1 -1 -1 -1 -1 -1 TMEM248 50_intron 34,.,. 0.382353,.,. TMEM248/intron/;TMEM248/non_coding/ 0.9797 0.2878 0.5020 1 dominant HG002 HG002 chr7:67042185:A:G 1,.,. 6.74591e-06 0 1 -1 -1 -1 TYW1 50_intron 28,.,. 0.607143,.,. TYW1/intron/ 0.0001 0.4833 0.6180 2 dominant HG002 HG002 chr7:67045825:C:T 1,.,. 1.97314e-05 0 3 -1 -1 -1 TYW1 50_intron 33,.,. 0.636364,.,. TYW1/intron/ 0.0001 0.4833 0.6180 2 dominant HG002 HG002 chr7:67145894:A:G 1,.,. 1.97278e-05 0 3 -1 -1 -1 TYW1 50_intron 42,.,. 0.47619,.,. TYW1/intron/;TYW1/non_coding/ 0.0001 0.4833 0.6180 2 dominant HG002 HG002 chr7:67417363:G:T 1,.,. 1.31392e-05 0 2 -1 -1 -1 14,.,. 0.642857,.,. dominant HG002 HG002 chr7:67607922:C:T 1,.,. 2.63168e-05 0 4 -1 -1 -1 30,.,. 0.466667,.,. recessive HG002 HG002 chr7:67666820:AGAGTGAAGCATATCCCGGACTTCTCACCAGCCAGTCACATGCAATGCACACTGAAGGGGACAGTGGAAGAGAAAACTGTCCCAAACAACCCAAGAAGACACTGATCTGGGGCTGAGCTGATGTCATCAATTCACATAGGTCTACAGAGGAAAGAACCTGTCAACGTTGGAACCAAATAGAAAATCTAGTGGTTTTTTTGTTGTTGTTTTGTTTTGTTTTTTTTTAAGTCGATACACAGGAAGATTTATCTGCAGTTTGTCTATCCCTGCAAATCACTAATATTGAGGTCTCTAAGTCATTTCCAAACCTTGAGAATCTCGTAAAATTGAGATGACATG:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr7:67757692:A:G 1,.,. 1.31411e-05 0 2 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr7:67849775:A:ATATATGTATATATGTGTATATATATGTATATG 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.391304,.,. recessive HG002 HG002 chr7:67865371:G:A 2,.,. 0.000509801 0 71 0.000700771 0 2 28,.,. 1,.,. dominant HG002 HG002 chr7:67887866:T:TTTG 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. recessive HG002 HG002 chr7:67903393:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr7:68135353:C:T 1,.,. 6.72649e-06 0 1 -1 -1 -1 24,.,. 0.375,.,. dominant HG002 HG002 chr7:68197776:TAGTAAAGAC:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr7:68197786:A:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr7:68234615:C:T 1,.,. 1.31328e-05 0 2 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr7:68242390:T:TTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTCTCTCTC 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.277778,.,. dominant HG002 HG002 chr7:68243292:T:G 1,.,. 2.62805e-05 0 4 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr7:68320141:T:G 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.666667,.,. dominant HG002 HG002 chr7:68320174:T:A 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.666667,.,. dominant HG002 HG002 chr7:68507008:G:GATAGTAGA 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.612903,.,. dominant HG002 HG002 chr7:68618995:A:C 1,.,. 1.31289e-05 0 2 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr7:68695703:A:AATATGAAGGATGGGAAG 1,.,. 1.239e-05 0 1 -1 -1 -1 25,.,. 0.44,.,. dominant HG002 HG002 chr7:68916290:A:C 1,.,. 1.97143e-05 0 3 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr7:68973490:T:TTTCTGTTTG 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.354839,.,. dominant HG002 HG002 chr7:68995011:T:C 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.571429,.,. dominant HG002 HG002 chr7:69081776:T:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr7:69081777:G:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr7:69081778:T:G 1,.,. 9.17263e-06 0 1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr7:69228531:T:TCCTCCCTCCCTTCCTTCTTTCCTTCTTTCAATTCTTCCTTCCTTCCTTCCTC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr7:69310144:A:AGACTACAC 1,.,. 1.31365e-05 0 2 -1 -1 -1 26,.,. 0.346154,.,. dominant HG002 HG002 chr7:69327183:A:C 1,.,. 1.31361e-05 0 2 -1 -1 -1 26,.,. 0.538462,.,. dominant HG002 HG002 chr7:69327184:T:A 1,.,. 1.31365e-05 0 2 -1 -1 -1 26,.,. 0.538462,.,. recessive HG002 HG002 chr7:69373246:AAAGAAGAAGG:A 2,.,. 5.6478e-05 0 2 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr7:69373268:A:G 2,.,. 0.000459758 0 17 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr7:69888168:A:G 1,.,. 1.31463e-05 0 2 -1 -1 -1 AUTS2 50_intron 55,.,. 0.527273,.,. AUTS2/intron/;AUTS2/non_coding/ 1.0000 0.1527 0.2320 0 Autism spectrum disorder due to AUTS2 deficiency 0.000 dominant HG002 HG002 chr7:69945429:T:G 1,.,. 1.3128e-05 0 2 -1 -1 -1 AUTS2 50_intron 37,.,. 0.486486,.,. AUTS2/intron/;AUTS2/non_coding/ 1.0000 0.1527 0.2320 0 Autism spectrum disorder due to AUTS2 deficiency 0.000 dominant HG002 HG002 chr7:70196026:G:A 1,.,. 1.31275e-05 0 2 -1 -1 -1 AUTS2 50_intron 41,.,. 0.439024,.,. AUTS2/intron/;AUTS2/non_coding/ 1.0000 0.1527 0.2320 0 Autism spectrum disorder due to AUTS2 deficiency 0.000 dominant HG002 HG002 chr7:70564838:G:T 1,.,. 1.31358e-05 0 2 -1 -1 -1 AUTS2 50_intron 34,.,. 0.529412,.,. AUTS2/intron/ 1.0000 0.1527 0.2320 0 Autism spectrum disorder due to AUTS2 deficiency 0.000 dominant HG002 HG002 chr7:70582749:G:C 1,.,. 6.57039e-06 0 1 -1 -1 -1 AUTS2 50_intron 28,.,. 0.25,.,. AUTS2/intron/ 1.0000 0.1527 0.2320 0 Autism spectrum disorder due to AUTS2 deficiency 0.000 dominant HG002 HG002 chr7:70598597:TA:T 1,.,. 6.57488e-06 0 1 -1 -1 -1 AUTS2 50_intron 37,.,. 0.513514,.,. AUTS2/intron/ 1.0000 0.1527 0.2320 0 Autism spectrum disorder due to AUTS2 deficiency 0.000 dominant HG002 HG002 chr7:70684878:CATT:C 1,.,. 1.97174e-05 0 3 -1 -1 -1 AUTS2 50_intron 27,.,. 0.555556,.,. AUTS2/intron/ 1.0000 0.1527 0.2320 0 Autism spectrum disorder due to AUTS2 deficiency 0.000 dominant HG002 HG002 chr7:70844302:T:TAGAA 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.37037,.,. recessive HG002 HG002 chr7:70961686:AATTTATTTATTT:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr7:71010453:GACA:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr7:71010457:G:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr7:71359072:G:A 1,.,. 6.57229e-06 0 1 -1 -1 -1 GALNT17 50_intron 25,.,. 0.48,.,. GALNT17/intron/;GALNT17/non_coding/ 0.0190 0.4476 0.6100 2 recessive HG002 HG002 chr7:71377343:T:TGATCAGTCCAA 2,.,. -1 -1 -1 -1 -1 -1 GALNT17 50_intron 26,.,. 1,.,. GALNT17/intron/;GALNT17/non_coding/ 0.0190 0.4476 0.6100 2 dominant HG002 HG002 chr7:71397940:C:CGTTGTT 1,.,. -1 -1 -1 -1 -1 -1 GALNT17 50_intron 40,.,. 0.45,.,. GALNT17/intron/;GALNT17/non_coding/ 0.0190 0.4476 0.6100 2 dominant HG002 HG002 chr7:71654686:A:T 1,.,. -1 -1 -1 -1 -1 -1 GALNT17 50_intron 30,.,. 0.5,.,. GALNT17/intron/;GALNT17/non_coding/ 0.0190 0.4476 0.6100 2 dominant HG002 HG002 chr7:71654687:A:G 1,.,. -1 -1 -1 -1 -1 -1 GALNT17 50_intron 30,.,. 0.5,.,. GALNT17/intron/;GALNT17/non_coding/ 0.0190 0.4476 0.6100 2 dominant HG002 HG002 chr7:71654688:TCTTTAAC:T 1,.,. -1 -1 -1 -1 -1 -1 GALNT17 50_intron 30,.,. 0.5,.,. GALNT17/intron/;GALNT17/non_coding/ 0.0190 0.4476 0.6100 2 dominant HG002 HG002 chr7:71654696:T:G 1,.,. 2.04608e-05 0 1 -1 -1 -1 GALNT17 50_intron 30,.,. 0.5,.,. GALNT17/intron/;GALNT17/non_coding/ 0.0190 0.4476 0.6100 2 dominant HG002 HG002 chr7:71654697:T:C 1,.,. -1 -1 -1 -1 -1 -1 GALNT17 50_intron 30,.,. 0.5,.,. GALNT17/intron/;GALNT17/non_coding/ 0.0190 0.4476 0.6100 2 dominant HG002 HG002 chr7:71743727:G:T 1,.,. 2.84973e-05 0 4 -1 -1 -1 31,.,. 0.677419,.,. dominant HG002 HG002 chr7:71806777:C:A 1,.,. 2.62905e-05 0 4 -1 -1 -1 CALN1 50_intron 19,.,. 0.578947,.,. CALN1/intron/ 0.0011 0.5912 0.8980 4 dominant HG002 HG002 chr7:72046877:A:G 1,.,. 2.633e-05 0 4 -1 -1 -1 CALN1 50_intron 35,.,. 0.571429,.,. CALN1/intron/ 0.0011 0.5912 0.8980 4 dominant HG002 HG002 chr7:72228927:A:AT 1,.,. -1 -1 -1 -1 -1 -1 CALN1 50_intron 23,.,. 0.304348,.,. CALN1/intron/ 0.0011 0.5912 0.8980 4 dominant HG002 HG002 chr7:72279007:A:G 1,.,. 2.62843e-05 0 4 -1 -1 -1 CALN1 50_intron 42,.,. 0.595238,.,. CALN1/intron/ 0.0011 0.5912 0.8980 4 dominant HG002 HG002 chr7:72369356:T:TTATTTTTTGTTG 1,.,. -1 -1 -1 -1 -1 -1 CALN1 50_intron 33,.,. 0.424242,.,. CALN1/intron/ 0.0011 0.5912 0.8980 4 dominant HG002 HG002 chr7:72443513:C:T 1,.,. 1.97192e-05 0 3 -1 -1 -1 CALN1 50_intron 25,.,. 0.4,.,. CALN1/intron/ 0.0011 0.5912 0.8980 4 dominant HG002 HG002 chr7:72562603:AAAT:A 1,.,. 9.24044e-06 0 1 -1 -1 -1 TYW1B 50_intron 33,.,. 0.545455,.,. TYW1B/intron/ 0.0000 0.8239 1.0150 5 dominant HG002 HG002 chr7:72871156:C:G 1,.,. 1.32399e-05 0 2 -1 -1 -1 SPDYE7P 53_non_coding 32,.,. 0.625,.,. SPDYE7P/non_coding/ dominant HG002 HG002 chr7:72873087:C:T 1,.,. 6.57333e-06 0 1 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr7:72891622:G:T 1,.,. 6.5716e-06 0 1 -1 -1 -1 POM121 50_intron 36,.,. 0.444444,.,. POM121/intron/ 0.0023 0.4713 0.6330 2 dominant HG002 HG002 chr7:72894651:G:A 1,.,. -1 -1 -1 -1 -1 -1 POM121 50_intron 43,.,. 0.395349,.,. POM121/intron/ 0.0023 0.4713 0.6330 2 dominant HG002 HG002 chr7:72943244:G:A 1,.,. -1 -1 -1 -1 -1 -1 POM121 14_missense 29,.,. 0.517241,.,. POM121/missense/ENST00000395270;POM121/missense/ENST00000627934;POM121/missense/ENST00000446813;POM121/missense/ENST00000358357;POM121/missense/ENST00000434423 0.0023 0.4713 0.6330 2 dominant HG002 HG002 chr7:72944398:G:A 1,.,. -1 -1 -1 -1 -1 -1 POM121 50_intron 30,.,. 0.566667,.,. POM121/intron/ 0.0023 0.4713 0.6330 2 recessive HG002 HG002 chr7:73040205:G:A 2,.,. 0.0177878 1 55 -1 -1 -1 AC211476.3 53_non_coding 18,.,. 1,.,. AC211476.3/non_coding/ recessive HG002 HG002 chr7:73068351:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC211476.5 53_non_coding 32,.,. 1,.,. AC211476.5/non_coding/ dominant HG002 HG002 chr7:73278303:C:T 1,.,. -1 -1 -1 0.000700771 0 2 GTF2IRD2P1 53_non_coding 28,.,. 0.571429,.,. GTF2IRD2P1/non_coding/ dominant HG002 HG002 chr7:73382510:A:T 1,.,. 6.57125e-06 0 1 -1 -1 -1 31,.,. 0.580645,.,. dominant HG002 HG002 chr7:73442052:T:TA 1,.,. 6.57004e-06 0 1 -1 -1 -1 BAZ1B 36_3_prime_utr 30,.,. 0.466667,.,. BAZ1B/3_prime_utr/ENST00000404251 1.0000 0.1393 0.2010 0 0.000 dominant HG002 HG002 chr7:73454857:T:A 1,.,. 6.57479e-06 0 1 -1 -1 -1 BAZ1B 50_intron 36,.,. 0.472222,.,. BAZ1B/intron/ 1.0000 0.1393 0.2010 0 0.000 dominant HG002 HG002 chr7:73926881:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.666667,.,. dominant HG002 HG002 chr7:74108472:C:T 1,.,. 6.58059e-06 0 1 -1 -1 -1 LIMK1 50_intron 23,.,. 0.521739,.,. LIMK1/intron/;LIMK1/non_coding/ 1.0000 0.2193 0.3380 0 0.000 recessive HG002 HG002 chr7:74135693:C:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. dominant HG002 HG002 chr7:74351092:G:A 1,.,. 3.90961e-05 0 1 -1 -1 -1 CLIP2 50_intron 24,.,. 0.625,.,. CLIP2/intron/ 0.9929 0.3607 0.4760 1 0.000 dominant HG002 HG002 chr7:74549039:CTGG:C 1,.,. -1 -1 -1 -1 -1 -1 GTF2IRD1 50_intron 29,.,. 0.586207,.,. GTF2IRD1/intron/;GTF2IRD1/non_coding/ 1.0000 0.2009 0.3090 0 0.000 dominant HG002 HG002 chr7:74549043:C:A 1,.,. -1 -1 -1 -1 -1 -1 GTF2IRD1 50_intron 29,.,. 0.586207,.,. GTF2IRD1/intron/;GTF2IRD1/non_coding/ 1.0000 0.2009 0.3090 0 0.000 recessive HG002 HG002 chr7:74636998:A:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr7:74636999:T:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr7:74853262:C:A 2,.,. -1 -1 -1 -1 -1 -1 STAG3L2 53_non_coding 6,.,. 1,.,. STAG3L2/non_coding/ recessive HG002 HG002 chr7:74872141:A:T 2,.,. 0.000549426 0 74 0.00175193 0 5 STAG3L2 53_non_coding 34,.,. 1,.,. STAG3L2/non_coding/ recessive HG002 HG002 chr7:74872142:T:A 2,.,. 0.00154371 0 19 0.000700771 0 2 STAG3L2 53_non_coding 34,.,. 1,.,. STAG3L2/non_coding/ recessive HG002 HG002 chr7:75113196:A:ATTACAGGTGTGAGC 2,.,. -1 -1 -1 -1 -1 -1 GTF2IRD2B 50_intron 53,.,. 1,.,. GTF2IRD2B/intron/;GTF2IRD2B/non_coding/ 0.2152 0.4406 0.8700 4 recessive HG002 HG002 chr7:75113197:A:C 2,.,. -1 -1 -1 -1 -1 -1 GTF2IRD2B 50_intron 53,.,. 1,.,. GTF2IRD2B/intron/;GTF2IRD2B/non_coding/ 0.2152 0.4406 0.8700 4 dominant HG002 HG002 chr7:75574218:G:A 1,.,. -1 -1 -1 -1 -1 -1 HIP1 50_intron 29,.,. 0.551724,.,. HIP1/intron/ 0.0015 0.4510 0.5740 1 dominant HG002 HG002 chr7:75664777:C:A 1,.,. 6.57886e-06 0 1 -1 -1 -1 HIP1 50_intron 24,.,. 0.541667,.,. HIP1/intron/;HIP1/non_coding/ 0.0015 0.4510 0.5740 1 dominant HG002 HG002 chr7:75668104:TTGCTAA:T 1,.,. -1 -1 -1 -1 -1 -1 HIP1 50_intron 27,.,. 0.555556,.,. HIP1/intron/;HIP1/non_coding/ 0.0015 0.4510 0.5740 1 dominant HG002 HG002 chr7:75668113:C:A 1,.,. -1 -1 -1 -1 -1 -1 HIP1 50_intron 27,.,. 0.592593,.,. HIP1/intron/;HIP1/non_coding/ 0.0015 0.4510 0.5740 1 dominant HG002 HG002 chr7:75676777:AAAG:A 1,.,. -1 -1 -1 -1 -1 -1 HIP1 50_intron 30,.,. 0.533333,.,. HIP1/intron/;HIP1/non_coding/ 0.0015 0.4510 0.5740 1 dominant HG002 HG002 chr7:75680615:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 HIP1 50_intron 36,.,. 0.555556,.,. HIP1/intron/;HIP1/non_coding/ 0.0015 0.4510 0.5740 1 dominant HG002 HG002 chr7:75680618:T:C 1,.,. -1 -1 -1 -1 -1 -1 HIP1 50_intron 35,.,. 0.6,.,. HIP1/intron/;HIP1/non_coding/ 0.0015 0.4510 0.5740 1 dominant HG002 HG002 chr7:75683445:G:GGA 1,.,. -1 -1 -1 -1 -1 -1 HIP1 50_intron 36,.,. 0.611111,.,. HIP1/intron/;HIP1/non_coding/ 0.0015 0.4510 0.5740 1 dominant HG002 HG002 chr7:75683446:A:G 1,.,. -1 -1 -1 -1 -1 -1 HIP1 50_intron 35,.,. 0.628571,.,. HIP1/intron/;HIP1/non_coding/ 0.0015 0.4510 0.5740 1 dominant HG002 HG002 chr7:75694169:C:T 1,.,. 1.31503e-05 0 2 -1 -1 -1 HIP1 50_intron 29,.,. 0.448276,.,. HIP1/intron/;HIP1/non_coding/ 0.0015 0.4510 0.5740 1 dominant HG002 HG002 chr7:75755209:G:A 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.363636,.,. dominant HG002 HG002 chr7:75988984:G:T 1,.,. -1 -1 -1 -1 -1 -1 TMEM120A 50_intron 19,.,. 0.526316,.,. TMEM120A/intron/;TMEM120A/non_coding/ 0.0000 0.9756 1.2510 7 dominant HG002 HG002 chr7:75993956:C:G 1,.,. -1 -1 -1 -1 -1 -1 TMEM120A 50_intron 17,.,. 0.588235,.,. TMEM120A/intron/;TMEM120A/non_coding/ 0.0000 0.9756 1.2510 7 dominant HG002 HG002 chr7:76046742:C:T 1,.,. 6.64372e-06 0 1 -1 -1 -1 STYXL1 50_intron 26,.,. 0.384615,.,. STYXL1/intron/;STYXL1/non_coding/ 0.0000 0.8921 1.2160 6 dominant HG002 HG002 chr7:76064088:C:CT 1,.,. -1 -1 -1 -1 -1 -1 MDH2 50_intron 24,.,. 0.5,.,. MDH2/intron/;MDH2/non_coding/ 0.0000 0.7045 0.9840 4 Developmental and epileptic encephalopathy, 51 0.000 dominant HG002 HG002 chr7:76310134:A:AAAG 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr7:76504081:G:A 1,.,. -1 -1 -1 -1 -1 -1 DTX2 50_intron 25,.,. 0.6,.,. DTX2/intron/;DTX2/non_coding/ 0.0000 0.6199 0.8550 3 dominant HG002 HG002 chr7:76696917:C:G 1,.,. 6.578e-06 0 1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr7:76852631:G:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr7:76891148:A:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr7:76900501:ACAT:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr7:76900505:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr7:76990887:G:A 1,.,. -1 -1 -1 -1 -1 -1 DTX2P1 53_non_coding 18,.,. 0.666667,.,. DTX2P1/non_coding/ dominant HG002 HG002 chr7:77302640:T:G 1,.,. -1 -1 -1 -1 -1 -1 CCDC146 53_non_coding 44,.,. 0.340909,.,. CCDC146/non_coding/ 0.0000 0.7485 0.9260 4 Spermatogenic failure 94 dominant HG002 HG002 chr7:77359805:GGAAA:G 1,.,. -1 -1 -1 -1 -1 -1 GSAP 50_intron 41,.,. 0.390244,.,. GSAP/intron/;GSAP/non_coding/ 0.0000 0.8333 1.2000 6 recessive HG002 HG002 chr7:77533568:A:G 2,.,. -1 -1 -1 0.0210231 4 60 37,.,. 1,.,. recessive HG002 HG002 chr7:77533593:G:C 2,.,. -1 -1 -1 0.0101612 3 29 37,.,. 1,.,. recessive HG002 HG002 chr7:77533595:A:G 2,.,. -1 -1 -1 0.00840925 3 24 36,.,. 1,.,. recessive HG002 HG002 chr7:77533600:C:CT 2,.,. -1 -1 -1 0.00385424 3 11 36,.,. 1,.,. recessive HG002 HG002 chr7:77533609:A:G 2,.,. -1 -1 -1 0.00735809 2 21 35,.,. 1,.,. recessive HG002 HG002 chr7:77533611:A:G 2,.,. -1 -1 -1 0.00455501 3 13 37,.,. 1,.,. recessive HG002 HG002 chr7:77533613:G:GGCTGA 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr7:77533615:G:C 2,.,. -1 -1 -1 0.00560617 3 16 37,.,. 1,.,. recessive HG002 HG002 chr7:77533620:T:C 2,.,. -1 -1 -1 0.00770848 3 22 36,.,. 1,.,. recessive HG002 HG002 chr7:77533633:G:T 2,.,. 1.59096e-05 0 2 0.00840925 3 24 37,.,. 1,.,. recessive HG002 HG002 chr7:77533710:C:T 2,.,. -1 -1 -1 0.0224247 1 64 35,.,. 1,.,. recessive HG002 HG002 chr7:77533714:C:CAGTAGGGGCGGCCGGGCAGAGGCG 2,.,. -1 -1 -1 0.0220743 1 63 36,.,. 1,.,. recessive HG002 HG002 chr7:77533716:A:C 2,.,. 0.000151328 0 11 0.00420463 1 12 36,.,. 1,.,. recessive HG002 HG002 chr7:77533720:C:CA 2,.,. -1 -1 -1 0.0280308 1 80 36,.,. 1,.,. recessive HG002 HG002 chr7:77533726:C:T 2,.,. -1 -1 -1 0.0255781 1 73 36,.,. 1,.,. recessive HG002 HG002 chr7:77533731:T:G 2,.,. 0.00252806 1 182 0.0255781 1 73 36,.,. 1,.,. recessive HG002 HG002 chr7:77534015:T:G 2,.,. -1 -1 -1 0.00665732 0 19 35,.,. 1,.,. recessive HG002 HG002 chr7:77573105:C:A 2,.,. -1 -1 -1 0.00525578 0 15 PTPN12 50_intron 41,.,. 1,.,. PTPN12/intron/;PTPN12/non_coding/ 0.9653 0.3377 0.5130 1 Colorectal cancer 0.000 dominant HG002 HG002 chr7:78177432:A:C 1,.,. 3.95085e-05 0 4 -1 -1 -1 MAGI2 50_intron 45,.,. 0.422222,.,. MAGI2/intron/ 1.0000 0.2720 0.3690 0 Nephrotic syndrome 15 0.000 dominant HG002 HG002 chr7:78461936:A:G 1,.,. -1 -1 -1 -1 -1 -1 MAGI2 50_intron 49,.,. 0.346939,.,. MAGI2/intron/;MAGI2/non_coding/ 1.0000 0.2720 0.3690 0 Nephrotic syndrome 15 0.000 dominant HG002 HG002 chr7:78578128:T:C 1,.,. 2.63064e-05 0 4 -1 -1 -1 MAGI2 50_intron 37,.,. 0.594595,.,. MAGI2/intron/ 1.0000 0.2720 0.3690 0 Nephrotic syndrome 15 0.000 dominant HG002 HG002 chr7:78828781:A:T 1,.,. -1 -1 -1 -1 -1 -1 MAGI2 50_intron 54,.,. 0.518519,.,. MAGI2/intron/ 1.0000 0.2720 0.3690 0 Nephrotic syndrome 15 0.000 dominant HG002 HG002 chr7:79443275:TGTGTGTGTGC:T 1,.,. 9.3423e-06 0 1 -1 -1 -1 MAGI2 50_intron 47,.,. 0.489362,.,. MAGI2/intron/;MAGI2/non_coding/ 1.0000 0.2720 0.3690 0 Nephrotic syndrome 15 0.000 dominant HG002 HG002 chr7:79443291:T:C 1,.,. 2.87658e-05 0 4 -1 -1 -1 MAGI2 50_intron 47,.,. 0.489362,.,. MAGI2/intron/;MAGI2/non_coding/ 1.0000 0.2720 0.3690 0 Nephrotic syndrome 15 0.000 recessive HG002 HG002 chr7:80075932:C:T 2,.,. 0.00313719 3 473 0.00105116 0 3 GNAI1 50_intron 37,.,. 1,.,. GNAI1/intron/ 0.8629 0.1992 0.6270 2 Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 0.000 dominant HG002 HG002 chr7:81267571:CTG:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr7:81267575:T:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr7:81732305:A:T 1,.,. -1 -1 -1 -1 -1 -1 HGF 50_intron 51,.,. 0.490196,.,. HGF/intron/ 0.9963 0.3352 0.4710 1 Autosomal recessive nonsyndromic hearing loss 39 0.000 dominant HG002 HG002 chr7:81751496:TCCATAG:T 1,.,. -1 -1 -1 -1 -1 -1 HGF 36_3_prime_utr 50,.,. 0.42,.,. HGF/3_prime_utr/ENST00000423064 0.9963 0.3352 0.4710 1 Autosomal recessive nonsyndromic hearing loss 39 0.000 dominant HG002 HG002 chr7:81751503:A:G 1,.,. -1 -1 -1 -1 -1 -1 HGF 36_3_prime_utr 50,.,. 0.42,.,. HGF/3_prime_utr/ENST00000423064 0.9963 0.3352 0.4710 1 Autosomal recessive nonsyndromic hearing loss 39 0.000 dominant HG002 HG002 chr7:81808879:A:ATGT 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.301887,.,. recessive HG002 HG002 chr7:82080150:CCTATAT:C 2,.,. -1 -1 -1 -1 -1 -1 CACNA2D1 50_intron 54,.,. 1,.,. CACNA2D1/intron/;CACNA2D1/non_coding/ 0.9995 0.2917 0.4370 1 Developmental and epileptic encephalopathy 110 0.000 recessive HG002 HG002 chr7:82080159:G:A 2,.,. 0.000791348 0 6 -1 -1 -1 CACNA2D1 50_intron 54,.,. 1,.,. CACNA2D1/intron/;CACNA2D1/non_coding/ 0.9995 0.2917 0.4370 1 Developmental and epileptic encephalopathy 110 0.000 dominant HG002 HG002 chr7:82344565:A:G 1,.,. -1 -1 -1 -1 -1 -1 CACNA2D1 50_intron 45,.,. 0.488889,.,. CACNA2D1/intron/ 0.9995 0.2917 0.4370 1 Developmental and epileptic encephalopathy 110 0.000 dominant HG002 HG002 chr7:83195843:C:A 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.462963,.,. dominant HG002 HG002 chr7:83215378:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr7:83387847:TATG:T 1,.,. -1 -1 -1 -1 -1 -1 SEMA3E 50_intron 41,.,. 0.414634,.,. SEMA3E/intron/;SEMA3E/non_coding/ 0.0000 0.5209 0.6680 2 Hypogonadotropic hypogonadism 7 with or without anosmia 0.000 dominant HG002 HG002 chr7:83387851:T:G 1,.,. -1 -1 -1 -1 -1 -1 SEMA3E 50_intron 40,.,. 0.425,.,. SEMA3E/intron/;SEMA3E/non_coding/ 0.0000 0.5209 0.6680 2 Hypogonadotropic hypogonadism 7 with or without anosmia 0.000 dominant HG002 HG002 chr7:84636335:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr7:84944779:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.675676,.,. dominant HG002 HG002 chr7:85124517:A:C 1,.,. -1 -1 -1 -1 -1 -1 SEMA3D 50_intron 46,.,. 0.326087,.,. SEMA3D/intron/ 0.0000 0.8066 1.0740 5 0.000 dominant HG002 HG002 chr7:85236740:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr7:85535445:T:TCA 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr7:85789163:G:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.404255,.,. recessive HG002 HG002 chr7:85881098:GAT:G 2,.,. 0.000181664 0 3 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr7:85881108:T:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr7:85881112:T:A 2,.,. 8.89205e-05 0 1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr7:86288191:GATAGATATATATAT:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr7:86344746:A:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr7:86447298:A:G 1,.,. 6.57117e-06 0 1 -1 -1 -1 50,.,. 0.5,.,. dominant HG002 HG002 chr7:86627607:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr7:86645984:C:T 1,.,. -1 -1 -1 -1 -1 -1 GRM3 50_intron 30,.,. 0.333333,.,. GRM3/intron/ 0.9829 0.3482 0.4930 1 dominant HG002 HG002 chr7:87098006:A:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr7:87243187:A:T 1,.,. -1 -1 -1 0.00105116 0 3 39,.,. 0.410256,.,. dominant HG002 HG002 chr7:87243384:G:A 1,.,. -1 -1 -1 0.000700771 0 2 36,.,. 0.555556,.,. recessive HG002 HG002 chr7:87344943:C:CCCAAGCTTG 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr7:87344944:G:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr7:87344945:G:A 2,.,. 6.58519e-06 0 1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr7:87419802:A:C 1,.,. -1 -1 -1 0.000700771 0 2 ABCB4 50_intron 38,.,. 0.421053,.,. ABCB4/intron/ 0.0000 0.5100 0.6230 2 Low phospholipid associated cholelithiasis;Progressive familial intrahepatic cholestasis type 3;Cholestasis, intrahepatic, of pregnancy, 3 0.000 dominant HG002 HG002 chr7:88399258:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr7:88399260:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr7:88399261:G:GACT 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr7:89871108:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.619048,.,. dominant HG002 HG002 chr7:89936804:A:ATCCTT 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr7:90208375:A:AAGGGAGGG 1,.,. -1 -1 -1 0.000700771 0 2 STEAP2 50_intron 33,.,. 0.484848,.,. STEAP2/intron/ 0.0000 0.6199 0.8410 3 dominant HG002 HG002 chr7:90682685:C:CATAAA 1,.,. -1 -1 -1 -1 -1 -1 CDK14 50_intron 41,.,. 0.560976,.,. CDK14/intron/;CDK14/non_coding/ 0.0007 0.5957 0.8940 4 dominant HG002 HG002 chr7:90682687:C:G 1,.,. -1 -1 -1 -1 -1 -1 CDK14 50_intron 40,.,. 0.55,.,. CDK14/intron/;CDK14/non_coding/ 0.0007 0.5957 0.8940 4 dominant HG002 HG002 chr7:90682688:C:T 1,.,. -1 -1 -1 -1 -1 -1 CDK14 50_intron 41,.,. 0.560976,.,. CDK14/intron/;CDK14/non_coding/ 0.0007 0.5957 0.8940 4 dominant HG002 HG002 chr7:90682689:T:G 1,.,. -1 -1 -1 -1 -1 -1 CDK14 50_intron 41,.,. 0.560976,.,. CDK14/intron/;CDK14/non_coding/ 0.0007 0.5957 0.8940 4 dominant HG002 HG002 chr7:90696340:T:C 1,.,. -1 -1 -1 -1 -1 -1 CDK14 50_intron 50,.,. 0.38,.,. CDK14/intron/;CDK14/non_coding/ 0.0007 0.5957 0.8940 4 dominant HG002 HG002 chr7:90980565:A:G 1,.,. 1.31439e-05 0 2 -1 -1 -1 CDK14 50_intron 45,.,. 0.4,.,. CDK14/intron/ 0.0007 0.5957 0.8940 4 recessive HG002 HG002 chr7:91076242:CAAAAA:C 2,.,. -1 -1 -1 0.0171689 1 49 CDK14 50_intron 17,.,. 1,.,. CDK14/intron/ 0.0007 0.5957 0.8940 4 dominant HG002 HG002 chr7:91186281:CCCTCT:C 1,.,. -1 -1 -1 -1 -1 -1 CDK14 50_intron 40,.,. 0.275,.,. CDK14/intron/ 0.0007 0.5957 0.8940 4 dominant HG002 HG002 chr7:91552640:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. recessive HG002 HG002 chr7:91712361:A:G 2,.,. -1 -1 -1 0.00735809 2 21 MTERF1 53_non_coding 26,.,. 1,.,. MTERF1/non_coding/ 0.0000 0.8840 1.2050 6 dominant HG002 HG002 chr7:92070389:T:TTTTG 1,.,. -1 -1 -1 -1 -1 -1 AKAP9 50_intron 48,.,. 0.416667,.,. AKAP9/intron/ 0.0000 0.5962 0.6620 2 Long QT syndrome 11 0.000 dominant HG002 HG002 chr7:93026576:C:CT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.263158,.,. dominant HG002 HG002 chr7:93446064:G:A 1,.,. 6.57825e-06 0 1 -1 -1 -1 CALCR 50_intron 48,.,. 0.520833,.,. CALCR/intron/ 0.0000 0.7335 1.0390 5 0.000 dominant HG002 HG002 chr7:93540792:T:G 1,.,. -1 -1 -1 -1 -1 -1 CALCR 50_intron 51,.,. 0.588235,.,. CALCR/intron/ 0.0000 0.7335 1.0390 5 0.000 dominant HG002 HG002 chr7:93765251:G:A 1,.,. -1 -1 -1 -1 -1 -1 GNGT1 50_intron 37,.,. 0.621622,.,. GNGT1/intron/ dominant HG002 HG002 chr7:93795600:T:TTTTATATA 1,.,. 1.71869e-05 0 1 -1 -1 -1 GNGT1 50_intron 29,.,. 0.275862,.,. GNGT1/intron/ dominant HG002 HG002 chr7:93795606:A:ATATATTGG 1,.,. -1 -1 -1 -1 -1 -1 GNGT1 50_intron 33,.,. 0.606061,.,. GNGT1/intron/ dominant HG002 HG002 chr7:93795615:T:TAACACCA 1,.,. -1 -1 -1 -1 -1 -1 GNGT1 50_intron 33,.,. 0.606061,.,. GNGT1/intron/ recessive HG002 HG002 chr7:93912504:CTGG:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr7:93930205:CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTCTTT:C 2,.,. -1 -1 -1 0.00140154 0 4 51,.,. 1,.,. recessive HG002 HG002 chr7:93930249:CT:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. dominant HG002 HG002 chr7:94429107:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 COL1A2 50_intron 35,.,. 0.285714,.,. COL1A2/intron/;COL1A2/non_coding/ 1.0000 0.2626 0.3390 0 Ehlers-Danlos syndrome, cardiac valvular type;Osteogenesis imperfecta type III;Osteogenesis imperfecta with normal sclerae, dominant form;Osteogenesis imperfecta, perinatal lethal;Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2;Ehlers-Danlos syndrome, arthrochalasia type, 2 0.000 dominant HG002 HG002 chr7:94651932:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 SGCE 50_intron 36,.,. 0.444444,.,. SGCE/intron/;SGCE/non_coding/ 0.3204 0.4081 0.6280 2 Myoclonic dystonia 11 0.000 dominant HG002 HG002 chr7:94651935:T:A 1,.,. -1 -1 -1 -1 -1 -1 SGCE 50_intron 36,.,. 0.444444,.,. SGCE/intron/;SGCE/non_coding/ 0.3204 0.4081 0.6280 2 Myoclonic dystonia 11 0.000 dominant HG002 HG002 chr7:94717434:C:T 1,.,. 6.5735e-06 0 1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr7:95275679:A:T 1,.,. 1.97138e-05 0 3 -1 -1 -1 PPP1R9A 50_intron 49,.,. 0.673469,.,. PPP1R9A/intron/ 0.4455 0.4039 0.5050 1 dominant HG002 HG002 chr7:96475773:G:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. recessive HG002 HG002 chr7:96574397:C:A 2,.,. -1 -1 -1 -1 -1 -1 SEM1 50_intron 39,.,. 1,.,. SEM1/intron/ 0.7702 0.0000 0.7540 3 0.000 dominant HG002 HG002 chr7:96746639:C:T 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.481481,.,. dominant HG002 HG002 chr7:96897535:A:ATAGATAGATAGG 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr7:97035913:G:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr7:97103208:T:TACATACAC 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.333333,.,. dominant HG002 HG002 chr7:97336995:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr7:97579631:ACT:A 1,.,. 7.84979e-06 0 1 0.00140154 0 4 35,.,. 0.6,.,. dominant HG002 HG002 chr7:97592726:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. recessive HG002 HG002 chr7:98266961:AATAAT:A 2,.,. -1 -1 -1 -1 -1 -1 BRI3 53_non_coding 22,.,. 1,.,. BRI3/non_coding/ 0.0229 0.6742 1.3260 7 dominant HG002 HG002 chr7:98471107:C:G 1,.,. 6.58527e-06 0 1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr7:99059417:T:A 1,.,. -1 -1 -1 -1 -1 -1 SMURF1 50_intron 38,.,. 0.710526,.,. SMURF1/intron/;SMURF1/non_coding/ 0.0005 0.4686 0.6040 2 dominant HG002 HG002 chr7:99062190:GTGA:G 1,.,. -1 -1 -1 -1 -1 -1 SMURF1 50_intron 41,.,. 0.292683,.,. SMURF1/intron/;SMURF1/non_coding/ 0.0005 0.4686 0.6040 2 dominant HG002 HG002 chr7:99062194:T:A 1,.,. -1 -1 -1 -1 -1 -1 SMURF1 50_intron 41,.,. 0.292683,.,. SMURF1/intron/;SMURF1/non_coding/ 0.0005 0.4686 0.6040 2 dominant HG002 HG002 chr7:100185601:CA:C 1,.,. -1 -1 -1 0.00105116 1 3 STAG3 50_intron 32,.,. 0.46875,.,. STAG3/intron/;STAG3/non_coding/ 0.0000 0.6466 0.7650 3 Spermatogenic failure 61;Premature ovarian failure 8 0.000 dominant HG002 HG002 chr7:100470612:G:A 1,.,. -1 -1 -1 -1 -1 -1 TSC22D4 50_intron 29,.,. 0.413793,.,. TSC22D4/non_coding/;TSC22D4/intron/ 0.9445 0.2582 0.5430 1 dominant HG002 HG002 chr7:100667018:A:AATAT 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.285714,.,. dominant HG002 HG002 chr7:100675502:C:T 1,.,. -1 -1 -1 -1 -1 -1 GNB2 50_intron 23,.,. 0.565217,.,. GNB2/intron/ 0.9998 0.1980 0.3720 0 Sick sinus syndrome 4;Neurodevelopmental disorder with hypotonia and dysmorphic facies 0.000 dominant HG002 HG002 chr7:100950426:GGCCACCCAGCCTAC:G 1,.,. -1 -1 -1 -1 -1 -1 MUC3A 50_intron 48,.,. 0.458333,.,. MUC3A/intron/ 0.0000 1.0986 1.3010 7 recessive HG002 HG002 chr7:100968134:CCCCCTCCCTTCT:C 2,.,. -1 -1 -1 -1 -1 -1 MUC3A 36_3_prime_utr 43,.,. 1,.,. MUC3A/3_prime_utr/ENST00000379458 0.0000 1.0986 1.3010 7 recessive HG002 HG002 chr7:100968148:G:C 2,.,. -1 -1 -1 -1 -1 -1 MUC3A 36_3_prime_utr 44,.,. 1,.,. MUC3A/3_prime_utr/ENST00000379458 0.0000 1.0986 1.3010 7 recessive HG002 HG002 chr7:101145139:A:G 2,.,. 9.26427e-05 0 13 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chr7:101475904:T:TTCTCTCTC 1,.,. -1 -1 -1 -1 -1 -1 COL26A1 50_intron 21,.,. 0.380952,.,. COL26A1/intron/ 0.0000 0.8668 1.1450 6 dominant HG002 HG002 chr7:101804467:C:G 1,.,. -1 -1 -1 0.00105116 0 3 34,.,. 0.441176,.,. dominant HG002 HG002 chr7:102168926:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 CUX1 50_intron 28,.,. 0.321429,.,. CUX1/intron/;CUX1/non_coding/ 1.0000 0.2035 0.2770 0 Global developmental delay with or without impaired intellectual development 0.000 recessive HG002 HG002 chr7:102369428:C:T 2,.,. -1 -1 -1 -1 -1 -1 PRKRIP1;AC091390.4 50_intron 41,.,. 1,.,. PRKRIP1/non_coding/;PRKRIP1/intron/;AC091390.4/non_coding/ 0.0000 0.8960 1.3150 7 dominant HG002 HG002 chr7:103590573:T:A 1,.,. 0.000120569 0 3 -1 -1 -1 RELN 50_intron 41,.,. 0.463415,.,. RELN/intron/ 1.0000 0.2324 0.2760 0 Norman-Roberts syndrome;Familial temporal lobe epilepsy 7;Epilepsy, familial temporal lobe, 1 0.000 dominant HG002 HG002 chr7:103907772:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 RELN 50_intron 40,.,. 0.525,.,. RELN/intron/ 1.0000 0.2324 0.2760 0 Norman-Roberts syndrome;Familial temporal lobe epilepsy 7;Epilepsy, familial temporal lobe, 1 0.000 dominant HG002 HG002 chr7:103907775:T:C 1,.,. 6.97545e-05 0 2 -1 -1 -1 RELN 50_intron 39,.,. 0.538462,.,. RELN/intron/ 1.0000 0.2324 0.2760 0 Norman-Roberts syndrome;Familial temporal lobe epilepsy 7;Epilepsy, familial temporal lobe, 1 0.000 dominant HG002 HG002 chr7:103966221:C:G 1,.,. 6.59578e-06 0 1 -1 -1 -1 RELN 50_intron 49,.,. 0.428571,.,. RELN/intron/ 1.0000 0.2324 0.2760 0 Norman-Roberts syndrome;Familial temporal lobe epilepsy 7;Epilepsy, familial temporal lobe, 1 0.000 dominant HG002 HG002 chr7:103966222:T:TGGAAAATTACCAGA 1,.,. -1 -1 -1 -1 -1 -1 RELN 50_intron 48,.,. 0.4375,.,. RELN/intron/ 1.0000 0.2324 0.2760 0 Norman-Roberts syndrome;Familial temporal lobe epilepsy 7;Epilepsy, familial temporal lobe, 1 0.000 dominant HG002 HG002 chr7:103966223:T:A 1,.,. -1 -1 -1 -1 -1 -1 RELN 50_intron 49,.,. 0.428571,.,. RELN/intron/ 1.0000 0.2324 0.2760 0 Norman-Roberts syndrome;Familial temporal lobe epilepsy 7;Epilepsy, familial temporal lobe, 1 0.000 dominant HG002 HG002 chr7:104301104:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr7:104417749:A:ATAGTTAT 1,.,. -1 -1 -1 -1 -1 -1 LHFPL3 50_intron 54,.,. 0.444444,.,. LHFPL3/intron/ 0.9404 0.2602 0.5470 1 dominant HG002 HG002 chr7:104417752:A:C 1,.,. 8.08747e-06 0 1 -1 -1 -1 LHFPL3 50_intron 54,.,. 0.444444,.,. LHFPL3/intron/ 0.9404 0.2602 0.5470 1 dominant HG002 HG002 chr7:105552666:C:CTTTTT 1,.,. -1 -1 -1 0.00105116 0 3 RINT1 50_intron 17,.,. 0.235294,.,. RINT1/intron/;RINT1/non_coding/ 0.0000 0.7483 0.9310 4 Infantile liver failure syndrome 3 0.000 dominant HG002 HG002 chr7:105683069:A:AT 1,.,. -1 -1 -1 -1 -1 -1 ATXN7L1 50_intron 29,.,. 0.448276,.,. ATXN7L1/intron/ 1.0000 0.2206 0.3450 0 dominant HG002 HG002 chr7:105787065:A:ACCACCAGGC 1,.,. -1 -1 -1 -1 -1 -1 ATXN7L1 50_intron 38,.,. 0.552632,.,. ATXN7L1/intron/ 1.0000 0.2206 0.3450 0 dominant HG002 HG002 chr7:105787066:G:T 1,.,. -1 -1 -1 -1 -1 -1 ATXN7L1 50_intron 38,.,. 0.552632,.,. ATXN7L1/intron/ 1.0000 0.2206 0.3450 0 dominant HG002 HG002 chr7:107003742:T:TATATATAAAATATATATGATATATATCATATATATAAAATATATATGATATATATC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.371429,.,. recessive HG002 HG002 chr7:107003754:T:A 2,.,. 0.000106838 0 2 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr7:107403148:G:C 1,.,. -1 -1 -1 -1 -1 -1 COG5 50_intron 36,.,. 0.444444,.,. COG5/intron/;COG5/non_coding/ 0.0000 0.8263 1.0260 5 COG5-congenital disorder of glycosylation 0.000 dominant HG002 HG002 chr7:107749936:A:ATATT 1,.,. -1 -1 -1 -1 -1 -1 CBLL1 50_intron 43,.,. 0.348837,.,. CBLL1/intron/;CBLL1/non_coding/ 1.0000 0.0969 0.2510 0 dominant HG002 HG002 chr7:107749940:T:G 1,.,. 6.63456e-06 0 1 -1 -1 -1 CBLL1 50_intron 43,.,. 0.348837,.,. CBLL1/intron/;CBLL1/non_coding/ 1.0000 0.0969 0.2510 0 dominant HG002 HG002 chr7:107750861:A:T 1,.,. -1 -1 -1 -1 -1 -1 CBLL1 50_intron 40,.,. 0.375,.,. CBLL1/intron/;CBLL1/non_coding/ 1.0000 0.0969 0.2510 0 dominant HG002 HG002 chr7:107750862:T:G 1,.,. -1 -1 -1 -1 -1 -1 CBLL1 50_intron 41,.,. 0.390244,.,. CBLL1/intron/;CBLL1/non_coding/ 1.0000 0.0969 0.2510 0 dominant HG002 HG002 chr7:107750874:G:T 1,.,. -1 -1 -1 -1 -1 -1 CBLL1 50_intron 41,.,. 0.390244,.,. CBLL1/intron/;CBLL1/non_coding/ 1.0000 0.0969 0.2510 0 dominant HG002 HG002 chr7:108005966:T:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. recessive HG002 HG002 chr7:108177733:A:G 2,.,. -1 -1 -1 -1 -1 -1 NRCAM 50_intron 34,.,. 1,.,. NRCAM/intron/;NRCAM/non_coding/ 0.0000 0.5184 0.6520 2 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities 0.000 recessive HG002 HG002 chr7:108177734:T:A 2,.,. -1 -1 -1 -1 -1 -1 NRCAM 50_intron 34,.,. 1,.,. NRCAM/intron/;NRCAM/non_coding/ 0.0000 0.5184 0.6520 2 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities 0.000 dominant HG002 HG002 chr7:108217044:T:TAAAGACC 1,.,. -1 -1 -1 -1 -1 -1 NRCAM 50_intron 37,.,. 0.459459,.,. NRCAM/intron/ 0.0000 0.5184 0.6520 2 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities 0.000 dominant HG002 HG002 chr7:108459379:C:T 1,.,. 6.57073e-06 0 1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr7:108535759:TGTTTTCCTAACAGA:T 1,.,. -1 -1 -1 -1 -1 -1 PNPLA8 53_non_coding 46,.,. 0.456522,.,. PNPLA8/non_coding/ 0.0009 0.5381 0.7750 3 Mitochondrial myopathy-lactic acidosis-deafness syndrome 0.000 dominant HG002 HG002 chr7:108535774:T:A 1,.,. -1 -1 -1 -1 -1 -1 PNPLA8 53_non_coding 46,.,. 0.456522,.,. PNPLA8/non_coding/ 0.0009 0.5381 0.7750 3 Mitochondrial myopathy-lactic acidosis-deafness syndrome 0.000 dominant HG002 HG002 chr7:108911500:A:T 1,.,. 1.97163e-05 0 3 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr7:108911836:G:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr7:109471589:T:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.531915,.,. dominant HG002 HG002 chr7:109471590:A:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.531915,.,. dominant HG002 HG002 chr7:109471591:T:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.531915,.,. recessive HG002 HG002 chr7:109603213:T:TTTA 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr7:109603214:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr7:109813842:GGA:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr7:110004294:ATATGTGTGTGTGTATATATATGTG:A 1,.,. -1 -1 -1 0.000700771 0 2 51,.,. 0.392157,.,. dominant HG002 HG002 chr7:110004347:TGTGC:T 1,.,. 2.40767e-05 0 2 -1 -1 -1 50,.,. 0.38,.,. dominant HG002 HG002 chr7:110466860:G:C 1,.,. 1.97156e-05 0 3 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr7:110784512:A:G 1,.,. 2.6322e-05 0 4 -1 -1 -1 IMMP2L 50_intron 33,.,. 0.545455,.,. IMMP2L/intron/;IMMP2L/non_coding/ 0.0119 0.9320 1.7580 8 recessive HG002 HG002 chr7:110964003:C:T 2,.,. -1 -1 -1 -1 -1 -1 IMMP2L 50_intron 46,.,. 1,.,. IMMP2L/intron/;IMMP2L/non_coding/ 0.0119 0.9320 1.7580 8 dominant HG002 HG002 chr7:111096172:A:G 1,.,. 2.63276e-05 0 4 -1 -1 -1 IMMP2L 50_intron 46,.,. 0.326087,.,. IMMP2L/intron/;IMMP2L/non_coding/ 0.0119 0.9320 1.7580 8 dominant HG002 HG002 chr7:111246002:C:T 1,.,. -1 -1 -1 -1 -1 -1 IMMP2L 50_intron 40,.,. 0.475,.,. IMMP2L/intron/;IMMP2L/non_coding/ 0.0119 0.9320 1.7580 8 dominant HG002 HG002 chr7:111256697:A:T 1,.,. 1.97291e-05 0 3 -1 -1 -1 IMMP2L 50_intron 41,.,. 0.536585,.,. IMMP2L/intron/;IMMP2L/non_coding/ 0.0119 0.9320 1.7580 8 dominant HG002 HG002 chr7:111531967:A:G 1,.,. 1.3147e-05 0 2 -1 -1 -1 IMMP2L 50_intron 56,.,. 0.446429,.,. IMMP2L/intron/;IMMP2L/non_coding/ 0.0119 0.9320 1.7580 8 dominant HG002 HG002 chr7:111775782:G:A 1,.,. -1 -1 -1 -1 -1 -1 DOCK4 50_intron 39,.,. 0.358974,.,. DOCK4/intron/;DOCK4/non_coding/ 0.9999 0.3685 0.4450 1 dominant HG002 HG002 chr7:111822784:C:A 1,.,. -1 -1 -1 -1 -1 -1 DOCK4 50_intron 30,.,. 0.5,.,. DOCK4/intron/ 0.9999 0.3685 0.4450 1 dominant HG002 HG002 chr7:111926102:G:C 1,.,. -1 -1 -1 -1 -1 -1 DOCK4 50_intron 35,.,. 0.371429,.,. DOCK4/intron/;DOCK4/non_coding/ 0.9999 0.3685 0.4450 1 dominant HG002 HG002 chr7:111933313:T:G 1,.,. -1 -1 -1 -1 -1 -1 DOCK4 50_intron 38,.,. 0.552632,.,. DOCK4/intron/;DOCK4/non_coding/ 0.9999 0.3685 0.4450 1 dominant HG002 HG002 chr7:112083484:G:A 1,.,. -1 -1 -1 -1 -1 -1 DOCK4 50_intron 40,.,. 0.575,.,. DOCK4/intron/;DOCK4/non_coding/ 0.9999 0.3685 0.4450 1 dominant HG002 HG002 chr7:112115633:T:TCATC 1,.,. 6.2135e-05 0 2 -1 -1 -1 DOCK4 50_intron 44,.,. 0.5,.,. DOCK4/intron/;DOCK4/non_coding/ 0.9999 0.3685 0.4450 1 dominant HG002 HG002 chr7:112307535:C:G 1,.,. -1 -1 -1 -1 -1 -1 ZNF277 50_intron 38,.,. 0.631579,.,. ZNF277/intron/ 0.0000 0.8853 1.1490 6 dominant HG002 HG002 chr7:113150234:CTCTCTT:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.541667,.,. recessive HG002 HG002 chr7:113866245:C:G 2,.,. 6.60362e-06 0 1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr7:113877262:G:GTTAAA 2,.,. -1 -1 -1 -1 -1 -1 PPP1R3A 36_3_prime_utr 39,.,. 1,.,. PPP1R3A/3_prime_utr/ENST00000284601 0.0000 0.6117 0.8600 3 Type 2 diabetes mellitus 0.000 recessive HG002 HG002 chr7:113877263:A:T 2,.,. -1 -1 -1 -1 -1 -1 PPP1R3A 36_3_prime_utr 39,.,. 1,.,. PPP1R3A/3_prime_utr/ENST00000284601 0.0000 0.6117 0.8600 3 Type 2 diabetes mellitus 0.000 dominant HG002 HG002 chr7:113996453:T:A 1,.,. -1 -1 -1 -1 -1 -1 PPP1R3A 50_intron 48,.,. 0.541667,.,. PPP1R3A/intron/ 0.0000 0.6117 0.8600 3 Type 2 diabetes mellitus 0.000 recessive HG002 HG002 chr7:113996455:T:A 2,.,. 0.0128664 1 273 0.00175193 1 5 PPP1R3A 50_intron 50,.,. 1,.,. PPP1R3A/intron/ 0.0000 0.6117 0.8600 3 Type 2 diabetes mellitus 0.000 dominant HG002 HG002 chr7:114378261:G:A 1,.,. 1.97329e-05 0 3 -1 -1 -1 FOXP2 50_intron 51,.,. 0.392157,.,. FOXP2/intron/;FOXP2/non_coding/ 1.0000 0.0950 0.1570 0 Childhood apraxia of speech 0.000 dominant HG002 HG002 chr7:114454696:A:C 1,.,. -1 -1 -1 -1 -1 -1 FOXP2 50_intron 35,.,. 0.571429,.,. FOXP2/intron/;FOXP2/non_coding/ 1.0000 0.0950 0.1570 0 Childhood apraxia of speech 0.000 dominant HG002 HG002 chr7:114514738:A:C 1,.,. -1 -1 -1 -1 -1 -1 FOXP2 50_intron 43,.,. 0.55814,.,. FOXP2/intron/;FOXP2/non_coding/ 1.0000 0.0950 0.1570 0 Childhood apraxia of speech 0.000 dominant HG002 HG002 chr7:114521117:T:C 1,.,. -1 -1 -1 -1 -1 -1 FOXP2 50_intron 48,.,. 0.520833,.,. FOXP2/intron/;FOXP2/non_coding/ 1.0000 0.0950 0.1570 0 Childhood apraxia of speech 0.000 dominant HG002 HG002 chr7:114621321:G:C 1,.,. 1.97402e-05 0 3 -1 -1 -1 FOXP2 50_intron 44,.,. 0.477273,.,. FOXP2/intron/;FOXP2/non_coding/ 1.0000 0.0950 0.1570 0 Childhood apraxia of speech 0.000 dominant HG002 HG002 chr7:114973101:G:A 1,.,. 2.03032e-05 0 3 -1 -1 -1 MDFIC 50_intron 46,.,. 0.521739,.,. MDFIC/intron/ 0.0000 0.9773 1.5010 8 Lymphatic malformation 12 0.000 dominant HG002 HG002 chr7:115269695:G:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr7:115521186:A:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr7:116403909:A:C 1,.,. 1.97075e-05 0 3 -1 -1 -1 CAV2 53_non_coding 30,.,. 0.533333,.,. CAV2/non_coding/ 0.0887 0.4993 0.9380 4 dominant HG002 HG002 chr7:116442580:A:T 1,.,. -1 -1 -1 -1 -1 -1 CAV2 53_non_coding 38,.,. 0.342105,.,. CAV2/non_coding/ 0.0887 0.4993 0.9380 4 dominant HG002 HG002 chr7:116515922:T:TACACAC 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.428571,.,. dominant HG002 HG002 chr7:116637935:C:G 1,.,. 1.97171e-05 0 3 -1 -1 -1 40,.,. 0.525,.,. recessive HG002 HG002 chr7:116950270:C:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr7:116950271:T:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr7:116969599:A:G 1,.,. 6.57177e-06 0 1 -1 -1 -1 ST7 50_intron 37,.,. 0.459459,.,. ST7/intron/ 0.9216 0.3642 0.5200 1 dominant HG002 HG002 chr7:117292093:G:A 1,.,. -1 -1 -1 -1 -1 -1 WNT2 50_intron 42,.,. 0.404762,.,. WNT2/intron/ 0.9724 0.3156 0.5110 1 dominant HG002 HG002 chr7:117423861:CA:C 1,.,. -1 -1 -1 -1 -1 -1 CFTR;ASZ1 50_intron 42,.,. 0.52381,.,. CFTR/intron/;ASZ1/non_coding/;ASZ1/intron/ 0.0000;;0.0000 0.9876;;0.9755 1.1520;;1.3040 6;;7 Bronchiectasis with or without elevated sweat chloride 1;Hereditary pancreatitis;Ivacaftor response;Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation 0.000 dominant HG002 HG002 chr7:117704930:C:G 1,.,. -1 -1 -1 -1 -1 -1 CFTR 50_intron 58,.,. 0.5,.,. CFTR/intron/;CFTR/non_coding/ 0.0000 0.9876 1.1520 6 Bronchiectasis with or without elevated sweat chloride 1;Hereditary pancreatitis;Ivacaftor response;Cystic fibrosis;Congenital bilateral aplasia of vas deferens from CFTR mutation 0.000 recessive HG002 HG002 chr7:118015043:G:GCCAGTCTGGAGCA 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr7:118015044:G:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. dominant HG002 HG002 chr7:118207002:A:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.408163,.,. dominant HG002 HG002 chr7:118682487:C:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr7:119234088:C:T 1,.,. 1.97309e-05 0 3 -1 -1 -1 55,.,. 0.527273,.,. dominant HG002 HG002 chr7:119556899:A:AAAT 1,.,. 1.97112e-05 0 3 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr7:119890283:C:T 1,.,. 2.63664e-05 0 4 -1 -1 -1 49,.,. 0.55102,.,. dominant HG002 HG002 chr7:120139089:G:A 1,.,. 6.58033e-06 0 1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr7:120364953:G:T 1,.,. 6.57938e-06 0 1 -1 -1 -1 KCND2 50_intron 40,.,. 0.575,.,. KCND2/intron/ 0.9995 0.2738 0.4280 1 dominant HG002 HG002 chr7:121150763:T:A 1,.,. -1 -1 -1 -1 -1 -1 CPED1 50_intron 52,.,. 0.5,.,. CPED1/intron/;CPED1/non_coding/ 0.0000 0.9396 1.1420 6 dominant HG002 HG002 chr7:121247991:C:G 1,.,. 1.31387e-05 0 2 -1 -1 -1 CPED1 50_intron 37,.,. 0.405405,.,. CPED1/intron/;CPED1/non_coding/ 0.0000 0.9396 1.1420 6 dominant HG002 HG002 chr7:121279473:G:A 1,.,. -1 -1 -1 -1 -1 -1 CPED1 50_intron 46,.,. 0.565217,.,. CPED1/intron/ 0.0000 0.9396 1.1420 6 dominant HG002 HG002 chr7:121292600:T:A 1,.,. 1.31477e-05 0 2 -1 -1 -1 CPED1 50_intron 37,.,. 0.567568,.,. CPED1/intron/ 0.0000 0.9396 1.1420 6 dominant HG002 HG002 chr7:121407172:C:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.530612,.,. recessive HG002 HG002 chr7:121443750:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr7:121443751:A:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr7:121443763:G:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr7:121443774:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr7:121443775:A:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr7:121443779:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr7:121443780:A:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr7:121443803:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr7:121443804:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr7:121443808:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr7:121443821:G:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr7:121443832:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr7:121443833:A:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr7:121443837:C:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr7:121443895:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr7:121545153:C:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr7:121577218:G:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.609756,.,. dominant HG002 HG002 chr7:121776669:A:T 1,.,. 1.31472e-05 0 2 -1 -1 -1 60,.,. 0.6,.,. dominant HG002 HG002 chr7:122125790:TTAC:T 1,.,. -1 -1 -1 -1 -1 -1 AASS 50_intron 31,.,. 0.548387,.,. AASS/intron/;AASS/non_coding/ 0.0000 0.7851 0.9480 4 0.000 dominant HG002 HG002 chr7:122125796:T:A 1,.,. -1 -1 -1 -1 -1 -1 AASS 50_intron 31,.,. 0.548387,.,. AASS/intron/;AASS/non_coding/ 0.0000 0.7851 0.9480 4 0.000 recessive HG002 HG002 chr7:122696501:GACCCCATGGTCA:G 2,.,. -1 -1 -1 -1 -1 -1 CADPS2 50_intron 40,.,. 1,.,. CADPS2/intron/ 0.0000 0.5583 0.6990 2 recessive HG002 HG002 chr7:122696514:T:G 2,.,. -1 -1 -1 -1 -1 -1 CADPS2 50_intron 39,.,. 1,.,. CADPS2/intron/ 0.0000 0.5583 0.6990 2 dominant HG002 HG002 chr7:122896263:A:ATTT 1,.,. 1.31636e-05 0 2 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr7:122896266:A:C 1,.,. 1.31692e-05 0 2 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr7:122896268:C:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr7:122896269:A:T 1,.,. 2.85927e-05 0 2 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr7:122896270:T:A 1,.,. 2.86115e-05 0 2 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr7:123044094:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr7:123044098:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr7:123374500:G:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.354167,.,. dominant HG002 HG002 chr7:123459088:G:A 1,.,. 1.97545e-05 0 3 -1 -1 -1 IQUB 50_intron 53,.,. 0.471698,.,. IQUB/intron/ 0.0000 0.9667 1.2100 6 dominant HG002 HG002 chr7:123651938:C:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr7:123735732:G:T 1,.,. 1.97397e-05 0 3 -1 -1 -1 WASL 50_intron 54,.,. 0.555556,.,. WASL/intron/ 0.8305 0.3619 0.5570 1 dominant HG002 HG002 chr7:124037475:A:G 1,.,. 2.21559e-05 0 3 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr7:124135454:TAATA:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr7:124135467:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr7:124141280:C:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr7:124178184:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. recessive HG002 HG002 chr7:124625631:T:A 2,.,. 0.000892758 0 64 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr7:124627956:A:G 1,.,. 1.97215e-05 0 3 -1 -1 -1 53,.,. 0.509434,.,. dominant HG002 HG002 chr7:124769903:CA:C 1,.,. 2.63054e-05 0 4 -1 -1 -1 46,.,. 0.413043,.,. recessive HG002 HG002 chr7:125083839:CCTGGCACGTAG:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr7:125083852:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. dominant HG002 HG002 chr7:125092820:A:G 1,.,. 2.63633e-05 0 4 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr7:125099648:G:A 1,.,. 2.62981e-05 0 4 -1 -1 -1 34,.,. 0.529412,.,. recessive HG002 HG002 chr7:125545521:C:CATCT 2,.,. 0.000625147 0 16 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr7:125757469:T:TATGTGCCTAAC 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr7:125757471:G:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr7:125757473:A:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr7:125757474:A:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.55814,.,. dominant HG002 HG002 chr7:125757476:G:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr7:125757477:G:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. recessive HG002 HG002 chr7:126205780:T:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr7:126205781:C:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. dominant HG002 HG002 chr7:126413326:T:A 1,.,. 1.31441e-05 0 2 -1 -1 -1 51,.,. 0.372549,.,. dominant HG002 HG002 chr7:126600460:T:G 1,.,. -1 -1 -1 -1 -1 -1 GRM8 50_intron 42,.,. 0.5,.,. GRM8/intron/;GRM8/non_coding/ 0.0002 0.5092 0.6870 2 dominant HG002 HG002 chr7:126903747:GTATATGTGTATATATA:G 1,.,. -1 -1 -1 -1 -1 -1 GRM8 50_intron 33,.,. 0.484848,.,. GRM8/intron/;GRM8/non_coding/ 0.0002 0.5092 0.6870 2 dominant HG002 HG002 chr7:127001432:G:T 1,.,. 2.64204e-05 0 4 -1 -1 -1 GRM8 50_intron 45,.,. 0.422222,.,. GRM8/intron/;GRM8/non_coding/ 0.0002 0.5092 0.6870 2 dominant HG002 HG002 chr7:127015266:G:A 1,.,. -1 -1 -1 -1 -1 -1 GRM8 50_intron 35,.,. 0.371429,.,. GRM8/intron/;GRM8/non_coding/ 0.0002 0.5092 0.6870 2 dominant HG002 HG002 chr7:127319238:ACTTTT:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr7:127319244:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr7:127319246:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr7:127319247:T:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr7:127388603:CATTTGT:C 1,.,. -1 -1 -1 -1 -1 -1 ZNF800 50_intron 39,.,. 0.487179,.,. ZNF800/intron/ 1.0000 0.2165 0.3580 0 dominant HG002 HG002 chr7:127388611:T:G 1,.,. -1 -1 -1 -1 -1 -1 ZNF800 50_intron 39,.,. 0.487179,.,. ZNF800/intron/ 1.0000 0.2165 0.3580 0 dominant HG002 HG002 chr7:127388614:ATGTGC:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF800 50_intron 39,.,. 0.487179,.,. ZNF800/intron/ 1.0000 0.2165 0.3580 0 dominant HG002 HG002 chr7:127388620:T:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF800 50_intron 39,.,. 0.487179,.,. ZNF800/intron/ 1.0000 0.2165 0.3580 0 dominant HG002 HG002 chr7:127855511:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 SND1 50_intron 37,.,. 0.405405,.,. SND1/intron/;SND1/non_coding/ 1.0000 0.2844 0.3860 0 dominant HG002 HG002 chr7:127855512:G:T 1,.,. -1 -1 -1 -1 -1 -1 SND1 50_intron 38,.,. 0.473684,.,. SND1/intron/;SND1/non_coding/ 1.0000 0.2844 0.3860 0 dominant HG002 HG002 chr7:128029461:G:A 1,.,. -1 -1 -1 -1 -1 -1 LRRC4 14_missense 24,.,. 0.541667,.,. LRRC4/missense/ENST00000249363 0.9964 0.2770 0.4590 1 dominant HG002 HG002 chr7:128107888:C:T 1,.,. -1 -1 -1 0.000700771 0 2 34,.,. 0.411765,.,. dominant HG002 HG002 chr7:128129650:GTGTGTGTGTGCA:G 1,.,. 2.13347e-05 0 1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr7:128131293:ACACAGAGAAGAT:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.394737,.,. recessive HG002 HG002 chr7:128187940:CCCAA:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr7:128187948:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr7:128376063:A:C 2,.,. 0.0185185 0 5 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr7:128376064:C:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr7:128376065:A:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr7:129141669:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.357143,.,. recessive HG002 HG002 chr7:129220158:A:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chr7:129239024:CAG:C 1,.,. -1 -1 -1 -1 -1 -1 AHCYL2 50_intron 35,.,. 0.4,.,. AHCYL2/intron/ 0.9115 0.3715 0.5160 1 dominant HG002 HG002 chr7:129809891:C:T 1,.,. 1.31725e-05 0 2 -1 -1 -1 19,.,. 0.526316,.,. dominant HG002 HG002 chr7:129937227:G:A 1,.,. -1 -1 -1 -1 -1 -1 UBE2H 50_intron 42,.,. 0.357143,.,. UBE2H/intron/ 0.9999 0.0775 0.2440 0 dominant HG002 HG002 chr7:129959624:CACACACACAG:C 1,.,. 1.25244e-05 0 1 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr7:129959642:C:G 1,.,. 1.73934e-05 0 2 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr7:130501994:AAAAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 MEST 50_intron 51,.,. 0.470588,.,. MEST/intron/ 0.4273 0.3995 0.5920 2 dominant HG002 HG002 chr7:130502005:A:G 1,.,. -1 -1 -1 -1 -1 -1 MEST 50_intron 51,.,. 0.490196,.,. MEST/intron/ 0.4273 0.3995 0.5920 2 recessive HG002 HG002 chr7:130967981:A:G 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr7:130992930:C:T 2,.,. -1 -1 -1 0.000700771 0 2 36,.,. 1,.,. dominant HG002 HG002 chr7:131153661:T:TTG 1,.,. 4.24755e-05 0 2 -1 -1 -1 MKLN1 50_intron 36,.,. 0.305556,.,. MKLN1/intron/ 0.9987 0.2789 0.4430 1 dominant HG002 HG002 chr7:131413620:A:G 1,.,. -1 -1 -1 -1 -1 -1 MKLN1 50_intron 51,.,. 0.509804,.,. MKLN1/intron/;MKLN1/non_coding/ 0.9987 0.2789 0.4430 1 recessive HG002 HG002 chr7:131796618:T:C 2,.,. -1 -1 -1 0.0185704 3 53 36,.,. 1,.,. recessive HG002 HG002 chr7:131796621:GCCAAGTCTC:G 2,.,. 8.31463e-05 0 2 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr7:132555956:A:G 1,.,. -1 -1 -1 -1 -1 -1 PLXNA4 50_intron 16,.,. 0.4375,.,. PLXNA4/intron/ 1.0000 0.2245 0.2890 0 dominant HG002 HG002 chr7:132695545:AG:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.434783,.,. recessive HG002 HG002 chr7:132822850:CAAAAA:C 2,.,. 0.0019015 3 285 -1 -1 -1 CHCHD3 50_intron 56,.,. 0.982143,.,. CHCHD3/intron/;CHCHD3/non_coding/ 0.0049 0.5559 0.8690 4 recessive HG002 HG002 chr7:133025268:G:C 2,.,. 0.00179317 3 273 -1 -1 -1 CHCHD3 50_intron 31,.,. 1,.,. CHCHD3/intron/;CHCHD3/non_coding/ 0.0049 0.5559 0.8690 4 recessive HG002 HG002 chr7:133151582:G:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr7:133404900:ACACG:A 1,.,. -1 -1 -1 -1 -1 -1 EXOC4 50_intron 47,.,. 0.361702,.,. EXOC4/non_coding/;EXOC4/intron/ 0.0000 0.5977 0.7450 3 dominant HG002 HG002 chr7:133492315:T:G 1,.,. -1 -1 -1 -1 -1 -1 EXOC4 50_intron 35,.,. 0.657143,.,. EXOC4/non_coding/;EXOC4/intron/ 0.0000 0.5977 0.7450 3 recessive HG002 HG002 chr7:133492974:GGT:G 2,.,. -1 -1 -1 -1 -1 -1 EXOC4 50_intron 35,.,. 1,.,. EXOC4/non_coding/;EXOC4/intron/ 0.0000 0.5977 0.7450 3 recessive HG002 HG002 chr7:133492977:G:T 2,.,. -1 -1 -1 -1 -1 -1 EXOC4 50_intron 35,.,. 1,.,. EXOC4/non_coding/;EXOC4/intron/ 0.0000 0.5977 0.7450 3 dominant HG002 HG002 chr7:133656391:G:A 1,.,. 9.39638e-06 0 1 -1 -1 -1 EXOC4 50_intron 37,.,. 0.459459,.,. EXOC4/intron/;EXOC4/non_coding/ 0.0000 0.5977 0.7450 3 dominant HG002 HG002 chr7:133777279:AAGAGAGAGAG:A 1,.,. 0.00223964 0 4 -1 -1 -1 EXOC4 50_intron 21,.,. 0.761905,.,. EXOC4/intron/;EXOC4/non_coding/ 0.0000 0.5977 0.7450 3 dominant HG002 HG002 chr7:133777291:G:A 1,.,. -1 -1 -1 -1 -1 -1 EXOC4 50_intron 46,.,. 0.456522,.,. EXOC4/intron/;EXOC4/non_coding/ 0.0000 0.5977 0.7450 3 dominant HG002 HG002 chr7:133777295:G:A 1,.,. 0.000619835 0 3 -1 -1 -1 EXOC4 50_intron 46,.,. 0.347826,.,. EXOC4/intron/;EXOC4/non_coding/ 0.0000 0.5977 0.7450 3 dominant HG002 HG002 chr7:133897245:ACATG:A 1,.,. -1 -1 -1 -1 -1 -1 EXOC4 50_intron 46,.,. 0.478261,.,. EXOC4/intron/;EXOC4/non_coding/ 0.0000 0.5977 0.7450 3 dominant HG002 HG002 chr7:133897250:G:A 1,.,. -1 -1 -1 -1 -1 -1 EXOC4 50_intron 45,.,. 0.488889,.,. EXOC4/intron/;EXOC4/non_coding/ 0.0000 0.5977 0.7450 3 dominant HG002 HG002 chr7:134069310:T:C 1,.,. 7.68545e-06 0 1 -1 -1 -1 28,.,. 0.607143,.,. dominant HG002 HG002 chr7:135172471:A:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.647059,.,. dominant HG002 HG002 chr7:135430565:A:T 1,.,. 6.57246e-06 0 1 -1 -1 -1 CNOT4 50_intron 39,.,. 0.435897,.,. CNOT4/intron/;CNOT4/non_coding/ 1.0000 0.1033 0.2360 0 dominant HG002 HG002 chr7:135969251:AAAG:A 1,.,. -1 -1 -1 -1 -1 -1 MTPN 50_intron 25,.,. 0.36,.,. MTPN/intron/ 0.6447 0.2630 0.8280 3 dominant HG002 HG002 chr7:135969255:A:G 1,.,. -1 -1 -1 -1 -1 -1 MTPN 50_intron 24,.,. 0.375,.,. MTPN/intron/ 0.6447 0.2630 0.8280 3 dominant HG002 HG002 chr7:136108128:TATCTC:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr7:136108134:A:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. recessive HG002 HG002 chr7:136206424:A:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr7:136206427:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr7:136518369:T:TTTCCCTTCCC 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.346154,.,. dominant HG002 HG002 chr7:136737394:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr7:136867865:T:TATATATATATATATTCTGGATATATATATATATTCTGGATATATATATCCTGGAC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr7:137159930:GATGGTAAATAGT:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.511111,.,. dominant HG002 HG002 chr7:137159944:T:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr7:137161308:A:AACACAC 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.413043,.,. dominant HG002 HG002 chr7:137278306:CAAA:C 1,.,. -1 -1 -1 0.000700771 0 2 PTN 50_intron 17,.,. 0.588235,.,. PTN/intron/ 0.0060 0.6017 0.9960 5 recessive HG002 HG002 chr7:137313081:C:T 2,.,. 1.31844e-05 0 2 -1 -1 -1 PTN 50_intron 37,.,. 1,.,. PTN/intron/ 0.0060 0.6017 0.9960 5 dominant HG002 HG002 chr7:137455641:G:C 1,.,. -1 -1 -1 -1 -1 -1 DGKI 50_intron 37,.,. 0.594595,.,. DGKI/intron/;DGKI/non_coding/ 1.0000 0.3241 0.4280 1 recessive HG002 HG002 chr7:137973689:C:T 2,.,. -1 -1 -1 -1 -1 -1 CREB3L2 50_intron 27,.,. 1,.,. CREB3L2/intron/ 0.0332 0.4516 0.6450 2 recessive HG002 HG002 chr7:138264174:A:G 2,.,. 1.25241e-05 0 1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr7:138386283:T:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. recessive HG002 HG002 chr7:138671915:G:T 2,.,. -1 -1 -1 -1 -1 -1 SVOPL 50_intron 30,.,. 1,.,. SVOPL/intron/ 0.0000 0.9086 1.1750 6 recessive HG002 HG002 chr7:138671916:T:A 2,.,. -1 -1 -1 -1 -1 -1 SVOPL 50_intron 30,.,. 1,.,. SVOPL/intron/ 0.0000 0.9086 1.1750 6 recessive HG002 HG002 chr7:138671917:G:C 2,.,. -1 -1 -1 -1 -1 -1 SVOPL 50_intron 30,.,. 1,.,. SVOPL/intron/ 0.0000 0.9086 1.1750 6 recessive HG002 HG002 chr7:138671919:C:A 2,.,. -1 -1 -1 -1 -1 -1 SVOPL 50_intron 30,.,. 1,.,. SVOPL/intron/ 0.0000 0.9086 1.1750 6 recessive HG002 HG002 chr7:138671987:C:G 2,.,. -1 -1 -1 -1 -1 -1 SVOPL 50_intron 30,.,. 1,.,. SVOPL/intron/ 0.0000 0.9086 1.1750 6 recessive HG002 HG002 chr7:138671988:T:C 2,.,. -1 -1 -1 -1 -1 -1 SVOPL 50_intron 30,.,. 1,.,. SVOPL/intron/ 0.0000 0.9086 1.1750 6 recessive HG002 HG002 chr7:138671989:G:T 2,.,. -1 -1 -1 -1 -1 -1 SVOPL 50_intron 30,.,. 1,.,. SVOPL/intron/ 0.0000 0.9086 1.1750 6 dominant HG002 HG002 chr7:138676941:T:TCATC 1,.,. -1 -1 -1 -1 -1 -1 SVOPL 50_intron 28,.,. 0.285714,.,. SVOPL/intron/ 0.0000 0.9086 1.1750 6 dominant HG002 HG002 chr7:139052112:C:T 1,.,. -1 -1 -1 -1 -1 -1 ZC3HAV1 50_intron 47,.,. 0.404255,.,. ZC3HAV1/intron/ 0.0029 0.4557 0.5950 2 dominant HG002 HG002 chr7:139052120:C:T 1,.,. -1 -1 -1 -1 -1 -1 ZC3HAV1 50_intron 43,.,. 0.465116,.,. ZC3HAV1/intron/ 0.0029 0.4557 0.5950 2 dominant HG002 HG002 chr7:139087333:C:T 1,.,. -1 -1 -1 -1 -1 -1 ZC3HAV1 50_intron 27,.,. 0.481481,.,. ZC3HAV1/intron/ 0.0029 0.4557 0.5950 2 dominant HG002 HG002 chr7:139366490:T:TCTAA 1,.,. -1 -1 -1 -1 -1 -1 LUC7L2 50_intron 40,.,. 0.575,.,. LUC7L2/intron/;LUC7L2/non_coding/ 0.0017 0.4989 0.6970 2 dominant HG002 HG002 chr7:139521050:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.30303,.,. dominant HG002 HG002 chr7:139521082:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr7:139625371:GACTCA:G 1,.,. -1 -1 -1 -1 -1 -1 HIPK2 50_intron 35,.,. 0.428571,.,. HIPK2/intron/ 1.0000 0.2385 0.3330 0 dominant HG002 HG002 chr7:139625378:T:C 1,.,. -1 -1 -1 -1 -1 -1 HIPK2 50_intron 35,.,. 0.428571,.,. HIPK2/intron/ 1.0000 0.2385 0.3330 0 dominant HG002 HG002 chr7:139933827:T:A 1,.,. -1 -1 -1 -1 -1 -1 TBXAS1 50_intron 41,.,. 0.512195,.,. TBXAS1/intron/;TBXAS1/non_coding/ 0.0000 0.7450 0.9480 4 Ghosal hematodiaphyseal dysplasia 0.000 dominant HG002 HG002 chr7:139933828:T:G 1,.,. -1 -1 -1 -1 -1 -1 TBXAS1 50_intron 41,.,. 0.512195,.,. TBXAS1/intron/;TBXAS1/non_coding/ 0.0000 0.7450 0.9480 4 Ghosal hematodiaphyseal dysplasia 0.000 dominant HG002 HG002 chr7:140081008:CTGCCTTTAG:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr7:140081019:C:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr7:140361492:TCCCTCC:T 1,.,. -1 -1 -1 0.00105116 0 3 SLC37A3 50_intron 24,.,. 0.541667,.,. SLC37A3/intron/;SLC37A3/non_coding/ 0.0000 0.8070 1.0190 5 dominant HG002 HG002 chr7:140564302:C:T 1,.,. -1 -1 -1 -1 -1 -1 DENND2A 50_intron 27,.,. 0.37037,.,. DENND2A/intron/ 0.0000 0.5006 0.6320 2 recessive HG002 HG002 chr7:140566684:A:ATTTT 2,.,. -1 -1 -1 0.0189208 3 54 DENND2A 50_intron 14,.,. 1,.,. DENND2A/intron/ 0.0000 0.5006 0.6320 2 dominant HG002 HG002 chr7:140969890:A:T 1,.,. 0.000106255 0 3 -1 -1 -1 28,.,. 0.642857,.,. dominant HG002 HG002 chr7:141677435:G:A 1,.,. -1 -1 -1 -1 -1 -1 DENND11 50_intron 38,.,. 0.526316,.,. DENND11/intron/ 0.0000 0.7770 1.0490 5 dominant HG002 HG002 chr7:141677517:ATATG:A 1,.,. 9.3214e-06 0 1 -1 -1 -1 DENND11 50_intron 41,.,. 0.585366,.,. DENND11/intron/ 0.0000 0.7770 1.0490 5 dominant HG002 HG002 chr7:141903541:GGA:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr7:141903544:T:A 1,.,. 3.08966e-05 0 1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr7:141981406:G:A 1,.,. -1 -1 -1 -1 -1 -1 MGAM 50_intron 36,.,. 0.444444,.,. MGAM/intron/ 0.0000 0.7439 0.8320 3 dominant HG002 HG002 chr7:142378337:T:TTTTTTG 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.324324,.,. recessive HG002 HG002 chr7:142542735:CCTATATATAGTATA:C 2,.,. -1 -1 -1 0.000700771 0 2 33,.,. 1,.,. recessive HG002 HG002 chr7:142542751:A:C 2,.,. -1 -1 -1 0.000700771 0 2 33,.,. 1,.,. recessive HG002 HG002 chr7:142542758:C:T 2,.,. -1 -1 -1 0.00140154 1 4 34,.,. 1,.,. dominant HG002 HG002 chr7:142654515:C:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.361111,.,. dominant HG002 HG002 chr7:142705055:TCC:T 1,.,. 6.61919e-06 0 1 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr7:142705058:T:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr7:142705060:C:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. recessive HG002 HG002 chr7:142893990:C:G 2,.,. 0.000488213 0 7 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chr7:144376337:G:A 1,.,. -1 -1 -1 -1 -1 -1 ARHGEF5 50_intron 30,.,. 0.666667,.,. ARHGEF5/intron/ 0.9996 0.2502 0.4140 1 dominant HG002 HG002 chr7:145070589:GGAA:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr7:145145168:A:ACTAGTCCTTCACTAG 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr7:145145170:C:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr7:145299358:C:CCTTT 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.333333,.,. dominant HG002 HG002 chr7:145519928:AAC:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr7:145519934:C:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr7:145561490:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr7:146015774:G:C 1,.,. -1 -1 -1 0.000700771 0 2 45,.,. 0.466667,.,. dominant HG002 HG002 chr7:146389234:C:A 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP2 50_intron 55,.,. 0.290909,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:147081502:C:T 1,.,. 1.32244e-05 0 2 -1 -1 -1 CNTNAP2 50_intron 39,.,. 0.512821,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:147084173:CATAT:C 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP2 50_intron 45,.,. 0.511111,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:147123131:C:T 1,.,. 1.97389e-05 0 3 -1 -1 -1 CNTNAP2 50_intron 40,.,. 0.5,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:147167982:G:T 1,.,. 2.68691e-05 0 4 -1 -1 -1 CNTNAP2 50_intron 32,.,. 0.53125,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:147224049:C:CCCA 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP2 50_intron 35,.,. 0.657143,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:147224050:A:C 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP2 50_intron 35,.,. 0.657143,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:147234368:T:TGCTCTGTCACTCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP2 50_intron 45,.,. 0.422222,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:147547636:C:G 1,.,. 1.32055e-05 0 2 -1 -1 -1 CNTNAP2 50_intron 47,.,. 0.425532,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:147580862:C:T 1,.,. 1.97189e-05 0 3 -1 -1 -1 CNTNAP2 50_intron 40,.,. 0.55,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:147757711:G:A 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP2 50_intron 46,.,. 0.369565,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:147763270:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP2 50_intron 38,.,. 0.394737,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:147763273:A:G 1,.,. 1.77142e-05 0 1 -1 -1 -1 CNTNAP2 50_intron 38,.,. 0.5,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:147847139:G:A 1,.,. -1 -1 -1 0.000700771 0 2 CNTNAP2 50_intron 37,.,. 0.567568,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:148063545:A:G 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP2 50_intron 38,.,. 0.631579,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:148257934:C:A 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP2 50_intron 41,.,. 0.487805,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:148283038:C:G 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP2 50_intron 42,.,. 0.380952,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:148293083:T:A 1,.,. 1.99561e-05 0 3 -1 -1 -1 CNTNAP2 50_intron 39,.,. 0.384615,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 recessive HG002 HG002 chr7:148349006:A:C 2,.,. 4.60266e-05 0 7 -1 -1 -1 CNTNAP2 50_intron 37,.,. 1,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:148362206:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP2 50_intron 38,.,. 0.552632,.,. CNTNAP2/intron/;CNTNAP2/non_coding/ 0.0000 0.6100 0.7210 2 Autism, susceptibility to, 15;Cortical dysplasia-focal epilepsy syndrome 0.000 dominant HG002 HG002 chr7:148445223:ACTCTTCAGCTC:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr7:148949036:GGCCAA:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr7:148949042:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr7:149394340:ATCCTGCCCAGGTGCTGCCAGG:A 1,.,. 1.32935e-05 0 2 0.000700771 0 2 34,.,. 0.411765,.,. dominant HG002 HG002 chr7:149399375:T:TTTTC 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.375,.,. dominant HG002 HG002 chr7:149491541:G:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF746 36_3_prime_utr 38,.,. 0.657895,.,. ZNF746/3_prime_utr/ENST00000461958 0.8653 0.3572 0.5500 1 recessive HG002 HG002 chr7:149608847:TCTGAG:T 2,.,. -1 -1 -1 -1 -1 -1 ZNF767P 53_non_coding 32,.,. 1,.,. ZNF767P/non_coding/ recessive HG002 HG002 chr7:149608855:T:A 2,.,. -1 -1 -1 -1 -1 -1 ZNF767P 53_non_coding 32,.,. 1,.,. ZNF767P/non_coding/ recessive HG002 HG002 chr7:149653985:A:AACAAAACT 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr7:149937197:GTGCTA:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr7:149937204:A:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr7:149937205:A:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr7:150001668:C:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr7:150015399:C:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr7:150113105:A:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr7:150159040:G:GCACA 1,.,. 6.03865e-05 0 1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr7:150347197:T:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr7:150353248:A:AATAC 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.5,.,. dominant HG002 HG002 chr7:150359715:T:C 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.388889,.,. dominant HG002 HG002 chr7:150425374:T:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr7:150596843:T:TTTCCTTCCTTCCTTCC 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr7:150661036:A:T 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.527273,.,. dominant HG002 HG002 chr7:150749372:C:A 1,.,. -1 -1 -1 -1 -1 -1 GIMAP5 53_non_coding 36,.,. 0.333333,.,. GIMAP5/non_coding/ 0.0019 0.7938 1.3820 7 Portal hypertension, noncirrhotic, 2 0.000 recessive HG002 HG002 chr7:150783999:C:A 2,.,. 0.00164979 0 29 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr7:150897363:C:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr7:151145900:G:GGA 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.5,.,. dominant HG002 HG002 chr7:151312805:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr7:151641832:A:C 1,.,. -1 -1 -1 -1 -1 -1 PRKAG2 50_intron 33,.,. 0.545455,.,. PRKAG2/intron/;PRKAG2/non_coding/ 0.1966 0.4165 0.5820 1 Lethal congenital glycogen storage disease of heart;Hypertrophic cardiomyopathy 6;Wolff-Parkinson-White pattern 0.000 dominant HG002 HG002 chr7:151700750:GCTTCCCCTTA:G 1,.,. -1 -1 -1 -1 -1 -1 PRKAG2 50_intron 24,.,. 0.541667,.,. PRKAG2/intron/;PRKAG2/non_coding/ 0.1966 0.4165 0.5820 1 Lethal congenital glycogen storage disease of heart;Hypertrophic cardiomyopathy 6;Wolff-Parkinson-White pattern 0.000 dominant HG002 HG002 chr7:151700761:T:A 1,.,. -1 -1 -1 -1 -1 -1 PRKAG2 50_intron 24,.,. 0.541667,.,. PRKAG2/intron/;PRKAG2/non_coding/ 0.1966 0.4165 0.5820 1 Lethal congenital glycogen storage disease of heart;Hypertrophic cardiomyopathy 6;Wolff-Parkinson-White pattern 0.000 dominant HG002 HG002 chr7:152435834:G:C 1,.,. 2.01871e-05 0 3 -1 -1 -1 KMT2C 35_5_prime_utr 37,.,. 0.513514,.,. KMT2C/5_prime_utr/ENST00000262189 1.0000 0.1632 0.2020 0 Kleefstra syndrome 2 0.000 dominant HG002 HG002 chr7:152897999:C:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. recessive HG002 HG002 chr7:153112513:TTTAC:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr7:153112584:GTATATATATGTACACATACACATATGTATATATATGTACACATACACATATGTATATATGTACACATACACATATGTATATATGTACACATACACATATGTATATATGTACACATACATATATGTATATATATGTACACACATGTGTATATGTACACACACATGTGTATATGTACACGTACACACATGTGTATATGTACACGTACACACATGTGTATATGTACACGTACACACATGTGTATATGTACACGTACACACATGTGTATATGTACACGTACACACATGTGTATATGTACACGTACACACA:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr7:153189437:C:CTCTTT 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. recessive HG002 HG002 chr7:153356204:T:TATGGCTCCAG 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr7:153356205:T:C 2,.,. 6.75676e-06 0 1 -1 -1 -1 57,.,. 1,.,. dominant HG002 HG002 chr7:153541914:C:CCTGT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr7:153541919:T:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. recessive HG002 HG002 chr7:153635566:TTTCCTTCCTTCC:T 2,.,. 0.013832 1 196 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr7:153885110:T:TTGG 1,.,. 0.000134856 0 3 -1 -1 -1 29,.,. 0.37931,.,. dominant HG002 HG002 chr7:153926812:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 DPP6 50_intron 38,.,. 0.526316,.,. DPP6/intron/ 0.0000 0.6008 0.7510 3 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 0.000 recessive HG002 HG002 chr7:153988890:G:A 2,.,. -1 -1 -1 0.0122635 1 35 DPP6 50_intron 37,.,. 1,.,. DPP6/intron/ 0.0000 0.6008 0.7510 3 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 0.000 dominant HG002 HG002 chr7:154036300:TTGGGG:T 1,.,. -1 -1 -1 -1 -1 -1 DPP6 50_intron 25,.,. 0.48,.,. DPP6/intron/ 0.0000 0.6008 0.7510 3 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 0.000 dominant HG002 HG002 chr7:154036307:C:G 1,.,. -1 -1 -1 -1 -1 -1 DPP6 50_intron 26,.,. 0.538462,.,. DPP6/intron/ 0.0000 0.6008 0.7510 3 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 0.000 dominant HG002 HG002 chr7:154378630:C:T 1,.,. 1.31413e-05 0 2 -1 -1 -1 DPP6 50_intron 31,.,. 0.516129,.,. DPP6/intron/;DPP6/non_coding/ 0.0000 0.6008 0.7510 3 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 0.000 dominant HG002 HG002 chr7:154623579:A:G 1,.,. 4.66839e-05 0 3 -1 -1 -1 DPP6 50_intron 43,.,. 0.534884,.,. DPP6/intron/ 0.0000 0.6008 0.7510 3 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 0.000 dominant HG002 HG002 chr7:154661546:GC:G 1,.,. -1 -1 -1 -1 -1 -1 DPP6 50_intron 33,.,. 0.333333,.,. DPP6/intron/ 0.0000 0.6008 0.7510 3 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 0.000 recessive HG002 HG002 chr7:154663341:G:A 2,.,. -1 -1 -1 -1 -1 -1 DPP6 50_intron 20,.,. 1,.,. DPP6/intron/ 0.0000 0.6008 0.7510 3 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 0.000 recessive HG002 HG002 chr7:154663349:C:G 2,.,. -1 -1 -1 -1 -1 -1 DPP6 50_intron 20,.,. 1,.,. DPP6/intron/ 0.0000 0.6008 0.7510 3 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 0.000 recessive HG002 HG002 chr7:154663350:A:C 2,.,. -1 -1 -1 -1 -1 -1 DPP6 50_intron 20,.,. 1,.,. DPP6/intron/ 0.0000 0.6008 0.7510 3 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 0.000 recessive HG002 HG002 chr7:154663355:G:A 2,.,. -1 -1 -1 -1 -1 -1 DPP6 50_intron 20,.,. 1,.,. DPP6/intron/ 0.0000 0.6008 0.7510 3 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 0.000 recessive HG002 HG002 chr7:154663361:G:A 2,.,. 4.85602e-05 0 2 -1 -1 -1 DPP6 50_intron 20,.,. 1,.,. DPP6/intron/ 0.0000 0.6008 0.7510 3 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 0.000 recessive HG002 HG002 chr7:154663368:A:T 2,.,. -1 -1 -1 -1 -1 -1 DPP6 50_intron 20,.,. 1,.,. DPP6/intron/ 0.0000 0.6008 0.7510 3 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 0.000 recessive HG002 HG002 chr7:154663370:A:G 2,.,. 0.000401805 0 13 -1 -1 -1 DPP6 50_intron 20,.,. 1,.,. DPP6/intron/ 0.0000 0.6008 0.7510 3 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 0.000 dominant HG002 HG002 chr7:154883281:CACACAT:C 1,.,. -1 -1 -1 -1 -1 -1 DPP6 50_intron 21,.,. 0.380952,.,. DPP6/intron/ 0.0000 0.6008 0.7510 3 Ventricular fibrillation, paroxysmal familial, 2;Intellectual disability, autosomal dominant 33 0.000 recessive HG002 HG002 chr7:155118715:C:G 2,.,. 0.00380371 2 91 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr7:155118726:TGC:T 2,.,. 0.000583686 0 16 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr7:155187424:T:TTTCTGCCTCATTG 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr7:155187425:C:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr7:155206259:T:TGTCC 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.347826,.,. dominant HG002 HG002 chr7:155206268:G:T 1,.,. 6.9981e-06 0 1 0.000700771 0 2 25,.,. 0.32,.,. dominant HG002 HG002 chr7:155280107:AC:A 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.458333,.,. recessive HG002 HG002 chr7:155354481:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr7:155354482:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr7:155354491:CTTACAT:C 2,.,. 0.000119871 0 14 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr7:155367796:A:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr7:155367797:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chr7:155447425:A:AATTTC 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.529412,.,. dominant HG002 HG002 chr7:155447427:C:A 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.555556,.,. dominant HG002 HG002 chr7:155521047:A:AAAAAG 1,.,. -1 -1 -1 -1 -1 -1 CNPY1 50_intron 33,.,. 0.545455,.,. CNPY1/intron/ 0.0005 1.2032 1.8590 9 dominant HG002 HG002 chr7:155679171:T:TA 1,.,. -1 -1 -1 -1 -1 -1 RBM33 50_intron 30,.,. 0.233333,.,. RBM33/intron/ 1.0000 0.2344 0.3250 0 dominant HG002 HG002 chr7:155843225:G:GAACTTA 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr7:155843226:C:G 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr7:155843228:G:A 1,.,. 1.97195e-05 0 3 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr7:155883807:C:CCACGT 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr7:155883808:T:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. recessive HG002 HG002 chr7:155933165:ATATGTGTGCATGTG:A 2,.,. -1 -1 -1 0.00140154 0 4 30,.,. 1,.,. recessive HG002 HG002 chr7:155933183:A:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr7:156128584:G:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr7:156242653:TTGAAA:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr7:156242663:C:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr7:156242664:A:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr7:156437083:A:C 1,.,. 6.56987e-06 0 1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr7:156490526:A:G 1,.,. 6.56823e-06 0 1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr7:156570376:T:C 1,.,. 6.5741e-06 0 1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr7:156740761:T:C 1,.,. 1.31439e-05 0 2 -1 -1 -1 LMBR1 50_intron 43,.,. 0.55814,.,. LMBR1/intron/;LMBR1/non_coding/ 0.0000 0.9319 1.3810 7 Syndactyly type 4;Triphalangeal thumb-polysyndactyly syndrome;Acheiropodia;Laurin-Sandrow syndrome 0.000 dominant HG002 HG002 chr7:157199379:CAG:C 1,.,. -1 -1 -1 -1 -1 -1 UBE3C 50_intron 45,.,. 0.511111,.,. UBE3C/intron/ 1.0000 0.3304 0.4270 1 Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities dominant HG002 HG002 chr7:157199384:A:G 1,.,. -1 -1 -1 -1 -1 -1 UBE3C 50_intron 45,.,. 0.511111,.,. UBE3C/intron/ 1.0000 0.3304 0.4270 1 Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities dominant HG002 HG002 chr7:157229930:T:A 1,.,. -1 -1 -1 -1 -1 -1 UBE3C 50_intron 32,.,. 0.40625,.,. UBE3C/intron/;UBE3C/non_coding/ 1.0000 0.3304 0.4270 1 Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities dominant HG002 HG002 chr7:157247818:G:C 1,.,. 1.31382e-05 0 2 -1 -1 -1 UBE3C 50_intron 32,.,. 0.53125,.,. UBE3C/intron/;UBE3C/non_coding/ 1.0000 0.3304 0.4270 1 Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities dominant HG002 HG002 chr7:157336886:G:A 1,.,. 1.97109e-05 0 3 -1 -1 -1 DNAJB6 50_intron 26,.,. 0.461538,.,. DNAJB6/intron/ 0.0008 0.6057 0.9200 4 Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 0.000 dominant HG002 HG002 chr7:157411428:A:AGGGGAGGCTCCCCAGGATCCCTGCACTGAGCGGGCGTT 1,.,. -1 -1 -1 0.00140154 0 4 DNAJB6 36_3_prime_utr 19,.,. 0.368421,.,. DNAJB6/3_prime_utr&NMD_transcript/ENST00000459889 0.0008 0.6057 0.9200 4 Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 0.000 dominant HG002 HG002 chr7:157430369:C:CCCACCTGTCCACCCATCCATCCATCCATCCATCCACCCACCCATCCAT 1,.,. -1 -1 -1 0.000700771 0 2 19,.,. 0.421053,.,. recessive HG002 HG002 chr7:157480424:GTA:G 2,.,. -1 -1 -1 0.00140154 2 4 25,.,. 1,.,. recessive HG002 HG002 chr7:157480427:T:G 2,.,. -1 -1 -1 0.00420463 3 12 26,.,. 1,.,. recessive HG002 HG002 chr7:157483148:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chr7:157657510:CACCACACAA:C 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 28,.,. 0.357143,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:157711261:G:A 1,.,. 0.000482859 1 2 -1 -1 -1 PTPRN2 50_intron 24,.,. 0.458333,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:157932386:CTTCAG:C 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 24,.,. 0.375,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:157932392:T:C 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 25,.,. 0.4,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:157954230:C:T 1,.,. -1 -1 -1 0.000700771 0 2 PTPRN2 50_intron 32,.,. 0.5,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:157954242:G:A 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 32,.,. 0.5,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:157954245:T:C 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 31,.,. 0.516129,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:157982426:A:C 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 29,.,. 0.482759,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:157982428:G:A 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 29,.,. 0.482759,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158129493:C:A 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 22,.,. 0.454545,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158129494:A:ACACACAC 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 22,.,. 0.454545,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158131073:A:T 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 23,.,. 0.478261,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158131074:CTTAT:C 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 23,.,. 0.478261,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158131080:C:T 1,.,. 0.000196021 0 4 -1 -1 -1 PTPRN2 50_intron 23,.,. 0.478261,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158159657:C:CAAATG 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 25,.,. 0.4,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158159659:T:A 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 25,.,. 0.4,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158166457:C:CTCCTCCCCCCGGCCGCTGTGTTCACTGTCCTCACACCCTCAGGATCATCTCCTCCTCCCCCCGGCCACCGCGTTCCCTGTCCTCACACCCTCAGGATCATCTCCT 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 23,.,. 0.347826,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158171161:T:G 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 28,.,. 0.5,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158333525:C:T 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 16,.,. 0.375,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158337602:CACTCTCACCATAAGAGGAGACACCTGCAGACGTCATTCACACCCACACTCTCACCATAATTGGTGACACCTGCAG:C 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 17,.,. 0.294118,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 recessive HG002 HG002 chr7:158361197:C:T 2,.,. -1 -1 -1 0.013665 2 39 PTPRN2 50_intron 19,.,. 1,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158365836:G:GCACACACA 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 8,.,. 0.75,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 recessive HG002 HG002 chr7:158365850:C:A 2,.,. -1 -1 -1 0.00350385 0 10 PTPRN2 50_intron 20,.,. 1,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 recessive HG002 HG002 chr7:158425399:GCCGGGAAAGACGCGGGGTCCGAGACCAGCCTAGCTGAGGCCTGCGCACCA:G 2,.,. 1.0863e-05 0 1 -1 -1 -1 PTPRN2 50_intron 21,.,. 1,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158440925:A:AGTGGTGATGGTGGTGGTGATGATGGTGATGGGGTAGTAGTGGTGTTGGTGGTAGTGGTGGTGGTGATGGCAGTGATGGGGGTGGTGGTAGTGGTGGTGGTGGTGACAGTGGTAGTAGTGATGGTGGTAGTGATGGTGGTGCTGGTGGTAGTGATAGGGGTGGTAGTGATGGTGATGGTGATAGTGGTGATGGCAGTGGTAGTGATGGTGGTGATAGTGATGGTGATAGCAGTGGTGGCAGTGGTGGTGATAGTGATGGTGATGGTGGTG 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 23,.,. 0.347826,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158455194:T:TAACGGCACGGACGCCATCGGCCACGGCCAACCATCGCTCTGCAGAGAAGACAACGGCACGTACGCCATCGGCCACGGCCACCCATCGCTCTGCAGAGAAGACAACGGCACGGACGCCATCGGCCACGGCCACCCATCGCTCTGCAGAGAAGAC 1,.,. -1 -1 -1 -1 -1 -1 PTPRN2 50_intron 29,.,. 0.206897,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158496686:C:T 1,.,. -1 -1 -1 0.00140154 0 4 PTPRN2 50_intron 15,.,. 0.466667,.,. PTPRN2/intron/ 0.0000 0.6628 0.8110 3 dominant HG002 HG002 chr7:158667334:T:C 1,.,. 6.45661e-05 0 1 -1 -1 -1 NCAPG2 50_intron 31,.,. 0.483871,.,. NCAPG2/intron/;NCAPG2/non_coding/ 0.9999 0.3377 0.4410 1 Khan-Khan-Katsanis syndrome 0.000 dominant HG002 HG002 chr7:158729189:T:G 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.555556,.,. dominant HG002 HG002 chr7:158729190:T:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr7:158736164:G:T 1,.,. -1 -1 -1 -1 -1 -1 ESYT2 50_intron 44,.,. 0.545455,.,. ESYT2/intron/;ESYT2/non_coding/ 0.0000 0.5444 0.6840 2 dominant HG002 HG002 chr7:158815454:CTGACA:C 1,.,. -1 -1 -1 -1 -1 -1 ESYT2 50_intron 45,.,. 0.488889,.,. ESYT2/intron/;ESYT2/non_coding/ 0.0000 0.5444 0.6840 2 dominant HG002 HG002 chr7:158815460:T:C 1,.,. -1 -1 -1 -1 -1 -1 ESYT2 50_intron 45,.,. 0.488889,.,. ESYT2/intron/;ESYT2/non_coding/ 0.0000 0.5444 0.6840 2 dominant HG002 HG002 chr7:158863649:T:C 1,.,. 4.2613e-05 0 2 -1 -1 -1 WDR60 50_intron 17,.,. 0.588235,.,. WDR60/intron/ dominant HG002 HG002 chr7:159063777:A:AGGTGGGGTCTGGGGGTCCTGGCGGGATCTGGGGGTCCTGGTGGGGTCTGGGGGTCCTGGTGGGGTCCGGGGGTCCTGGTGGGGTCTGGGGGTCCTGGTGGAGTCTGGGGGTCCT 1,.,. -1 -1 -1 -1 -1 -1 VIPR2 50_intron 27,.,. 0.407407,.,. VIPR2/intron/ 0.0000 0.8130 1.0450 5 dominant HG002 HG002 chr7:159152427:T:TAATTCTCCGTCCAGGGGTCCCATGGTGA 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr7:159164595:C:T 1,.,. -1 -1 -1 0.000700771 0 2 50,.,. 0.54,.,. recessive HG002 HG002 chr7:159168678:A:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr7:159208985:A:G 2,.,. 0.000657246 0 16 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr7:159237802:C:A 2,.,. 4.19147e-05 0 1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr7:159288747:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr7:159316090:T:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr8:147926:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr8:148042:G:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr8:148127:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chr8:425403:AT:A 1,.,. -1 -1 -1 -1 -1 -1 FBXO25 50_intron 51,.,. 0.529412,.,. FBXO25/intron/;FBXO25/non_coding/ 0.0000 0.9725 1.3060 7 recessive HG002 HG002 chr8:616783:G:A 2,.,. 0.000844868 0 94 -1 -1 -1 ERICH1 50_intron 23,.,. 1,.,. ERICH1/intron/;ERICH1/non_coding/ 0.0000 1.4348 1.7900 8 recessive HG002 HG002 chr8:630273:A:ATG 2,.,. -1 -1 -1 -1 -1 -1 ERICH1 50_intron 14,.,. 1,.,. ERICH1/intron/;ERICH1/non_coding/ 0.0000 1.4348 1.7900 8 recessive HG002 HG002 chr8:630275:G:A 2,.,. 0.000499981 0 27 0.00630694 2 18 ERICH1 50_intron 14,.,. 1,.,. ERICH1/intron/;ERICH1/non_coding/ 0.0000 1.4348 1.7900 8 dominant HG002 HG002 chr8:733546:CAGACAGAG:C 1,.,. 8.01179e-06 0 1 -1 -1 -1 ERICH1 53_non_coding 31,.,. 0.548387,.,. ERICH1/non_coding/ 0.0000 1.4348 1.7900 8 dominant HG002 HG002 chr8:992751:C:T 1,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 28,.,. 0.464286,.,. DLGAP2/intron/;DLGAP2/non_coding/ 0.9999 0.3019 0.4250 1 dominant HG002 HG002 chr8:1034427:GCGAGTGGATTCACACGCTCATCCCAACCCCGCGTGTCACCA:G 1,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 25,.,. 0.48,.,. DLGAP2/intron/;DLGAP2/non_coding/ 0.9999 0.3019 0.4250 1 dominant HG002 HG002 chr8:1201358:T:C 1,.,. 2.63037e-05 0 4 -1 -1 -1 DLGAP2 50_intron 32,.,. 0.4375,.,. DLGAP2/intron/;DLGAP2/non_coding/ 0.9999 0.3019 0.4250 1 dominant HG002 HG002 chr8:1236407:C:A 1,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 23,.,. 0.565217,.,. DLGAP2/intron/;DLGAP2/non_coding/ 0.9999 0.3019 0.4250 1 dominant HG002 HG002 chr8:1287703:GTGTGTGTGTGTGTGTGTA:G 1,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 19,.,. 0.473684,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 dominant HG002 HG002 chr8:1287729:G:A 1,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 20,.,. 0.45,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 dominant HG002 HG002 chr8:1398185:G:T 1,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 10,.,. 0.5,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 recessive HG002 HG002 chr8:1398761:G:A 2,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 10,.,. 1,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 recessive HG002 HG002 chr8:1398853:G:A 2,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 10,.,. 1,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 recessive HG002 HG002 chr8:1403720:G:A 2,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 10,.,. 1,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 recessive HG002 HG002 chr8:1403746:G:C 2,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 10,.,. 1,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 recessive HG002 HG002 chr8:1403795:T:C 2,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 10,.,. 1,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 recessive HG002 HG002 chr8:1403832:A:G 2,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 10,.,. 1,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 recessive HG002 HG002 chr8:1403858:G:A 2,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 10,.,. 1,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 recessive HG002 HG002 chr8:1403878:A:G 2,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 10,.,. 1,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 recessive HG002 HG002 chr8:1403881:C:A 2,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 10,.,. 1,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 recessive HG002 HG002 chr8:1403918:C:G 2,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 10,.,. 1,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 recessive HG002 HG002 chr8:1403950:G:A 2,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 10,.,. 1,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 dominant HG002 HG002 chr8:1461514:CG:C 1,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 15,.,. 0.466667,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 dominant HG002 HG002 chr8:1461516:T:A 1,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 15,.,. 0.466667,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 dominant HG002 HG002 chr8:1561241:CTTTCCTTTATAA:C 1,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 20,.,. 0.6,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 dominant HG002 HG002 chr8:1562710:G:C 1,.,. 7.82963e-05 0 2 -1 -1 -1 DLGAP2 50_intron 16,.,. 0.5625,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 dominant HG002 HG002 chr8:1698716:A:G 1,.,. -1 -1 -1 -1 -1 -1 DLGAP2 50_intron 31,.,. 0.516129,.,. DLGAP2/intron/ 0.9999 0.3019 0.4250 1 recessive HG002 HG002 chr8:2081208:T:C 2,.,. -1 -1 -1 0.0105116 2 30 MYOM2 50_intron 23,.,. 1,.,. MYOM2/intron/ 0.0000 1.3188 1.4640 8 recessive HG002 HG002 chr8:2081219:G:T 2,.,. 0.000835561 0 20 0.0126139 2 36 MYOM2 50_intron 21,.,. 1,.,. MYOM2/intron/ 0.0000 1.3188 1.4640 8 dominant HG002 HG002 chr8:2097971:GCCCCTCAGCT:G 1,.,. -1 -1 -1 -1 -1 -1 MYOM2 50_intron 33,.,. 0.515152,.,. MYOM2/intron/ 0.0000 1.3188 1.4640 8 dominant HG002 HG002 chr8:2097984:C:G 1,.,. -1 -1 -1 -1 -1 -1 MYOM2 50_intron 33,.,. 0.515152,.,. MYOM2/intron/ 0.0000 1.3188 1.4640 8 dominant HG002 HG002 chr8:2100004:CTTCCTTCCTTTCT:C 1,.,. 1.73184e-05 0 2 -1 -1 -1 MYOM2 50_intron 33,.,. 0.545455,.,. MYOM2/intron/;MYOM2/non_coding/ 0.0000 1.3188 1.4640 8 dominant HG002 HG002 chr8:2100029:C:T 1,.,. -1 -1 -1 -1 -1 -1 MYOM2 50_intron 33,.,. 0.545455,.,. MYOM2/intron/;MYOM2/non_coding/ 0.0000 1.3188 1.4640 8 dominant HG002 HG002 chr8:2103388:G:A 1,.,. -1 -1 -1 -1 -1 -1 MYOM2 50_intron 38,.,. 0.473684,.,. MYOM2/intron/;MYOM2/non_coding/ 0.0000 1.3188 1.4640 8 dominant HG002 HG002 chr8:2189188:A:C 1,.,. 2.63175e-05 0 4 -1 -1 -1 7,.,. 0.428571,.,. recessive HG002 HG002 chr8:2340069:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr8:2340071:C:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chr8:2508966:T:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr8:2517626:G:GACAT 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr8:2517627:T:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr8:2517630:A:AATGACAGAT 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr8:2517631:T:A 1,.,. 6.59265e-06 0 1 -1 -1 -1 32,.,. 0.46875,.,. recessive HG002 HG002 chr8:2949676:G:GAAGAC 2,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 44,.,. 1,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:3385118:ATAATAT:A 1,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 40,.,. 0.5,.,. CSMD1/intron/;CSMD1/non_coding/ 0.0000 0.5143 0.5860 2 recessive HG002 HG002 chr8:3622792:T:A 2,.,. 0.000112994 0 2 -1 -1 -1 CSMD1 50_intron 36,.,. 1,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 recessive HG002 HG002 chr8:3622793:TCCATCCACA:T 2,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 36,.,. 1,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:3975308:A:AT 1,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 32,.,. 0.5625,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:3986766:T:C 1,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 37,.,. 0.621622,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:4019444:ACATTCCCTTATTAG:A 1,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 54,.,. 0.537037,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:4019461:C:T 1,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 54,.,. 0.537037,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:4019462:C:G 1,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 54,.,. 0.537037,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:4046609:TGAGTC:T 1,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 48,.,. 0.5625,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:4046615:T:A 1,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 48,.,. 0.5625,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:4046629:A:AAGACT 1,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 47,.,. 0.553191,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:4102428:C:T 1,.,. 1.31465e-05 0 2 -1 -1 -1 CSMD1 50_intron 56,.,. 0.625,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:4102698:C:T 1,.,. 1.31442e-05 0 2 0.000700771 0 2 CSMD1 50_intron 57,.,. 0.596491,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 recessive HG002 HG002 chr8:4108043:GAGAGACAGAGAC:G 2,.,. 0.010989 0 2 -1 -1 -1 CSMD1 50_intron 49,.,. 1,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:4135330:A:AGGGGAAGG 1,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 29,.,. 0.448276,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:4135337:A:G 1,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 31,.,. 0.483871,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:4142056:T:TTTAAA 1,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 37,.,. 0.405405,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:4198914:C:T 1,.,. 2.64141e-05 0 4 -1 -1 -1 CSMD1 50_intron 40,.,. 0.45,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 recessive HG002 HG002 chr8:4466444:TATATATACTCAATATA:T 2,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 44,.,. 1,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 recessive HG002 HG002 chr8:4466461:T:C 2,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 44,.,. 1,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 recessive HG002 HG002 chr8:4466463:G:T 2,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 44,.,. 1,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:4771073:T:C 1,.,. 1.31375e-05 0 2 -1 -1 -1 CSMD1 50_intron 55,.,. 0.490909,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 recessive HG002 HG002 chr8:4906586:C:T 2,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 46,.,. 1,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 recessive HG002 HG002 chr8:4908729:A:T 2,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 46,.,. 1,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 recessive HG002 HG002 chr8:4908730:T:TTTATTTTCA 2,.,. -1 -1 -1 -1 -1 -1 CSMD1 50_intron 44,.,. 1,.,. CSMD1/intron/ 0.0000 0.5143 0.5860 2 dominant HG002 HG002 chr8:5119762:CTCACTTTTATGAGG:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. recessive HG002 HG002 chr8:5156577:A:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr8:5270962:CTACAAGCTACTTGT:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr8:5270979:G:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr8:5291753:C:T 1,.,. 6.57272e-06 0 1 -1 -1 -1 40,.,. 0.475,.,. recessive HG002 HG002 chr8:5307704:ACACACACACACACACAT:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr8:5737995:T:A 1,.,. -1 -1 -1 0.000700771 0 2 31,.,. 0.516129,.,. dominant HG002 HG002 chr8:5966925:C:G 1,.,. 1.97192e-05 0 3 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr8:5972997:T:C 1,.,. 1.97504e-05 0 3 -1 -1 -1 35,.,. 0.514286,.,. recessive HG002 HG002 chr8:5998553:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr8:6020283:C:CTCTTT 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr8:6020284:C:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. dominant HG002 HG002 chr8:6113732:C:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr8:6114363:T:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. recessive HG002 HG002 chr8:6246793:A:AGGGATG 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr8:6366639:TTTTC:T 2,.,. 0.00435127 0 33 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr8:6366646:T:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr8:6366647:T:C 2,.,. 0.00417827 0 30 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr8:6404507:G:GTTGGGATT 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr8:6404508:G:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr8:6458485:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 MCPH1 50_intron 34,.,. 0.323529,.,. MCPH1/intron/;MCPH1/non_coding/ 0.0000 1.1203 1.3420 7 Microcephaly 1, primary, autosomal recessive 0.000 dominant HG002 HG002 chr8:6458488:A:G 1,.,. -1 -1 -1 -1 -1 -1 MCPH1 50_intron 35,.,. 0.457143,.,. MCPH1/intron/;MCPH1/non_coding/ 0.0000 1.1203 1.3420 7 Microcephaly 1, primary, autosomal recessive 0.000 dominant HG002 HG002 chr8:6615635:A:G 1,.,. -1 -1 -1 -1 -1 -1 MCPH1 50_intron 36,.,. 0.333333,.,. MCPH1/intron/;MCPH1/non_coding/ 0.0000 1.1203 1.3420 7 Microcephaly 1, primary, autosomal recessive 0.000 dominant HG002 HG002 chr8:6732701:TTAAGAATTAAATTAAAATC:T 1,.,. -1 -1 -1 -1 -1 -1 AGPAT5 50_intron 49,.,. 0.571429,.,. AGPAT5/intron/ 0.0000 1.0609 1.3910 7 dominant HG002 HG002 chr8:6819831:CCTTCCT:C 1,.,. -1 -1 -1 -1 -1 -1 XKR5 50_intron 35,.,. 0.542857,.,. XKR5/intron/ 0.0000 1.3227 1.6880 8 recessive HG002 HG002 chr8:6933671:T:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr8:6993603:G:C 2,.,. -1 -1 -1 0.00105116 0 3 36,.,. 1,.,. recessive HG002 HG002 chr8:7007700:A:C 2,.,. -1 -1 -1 0.0252277 1 72 63,.,. 1,.,. recessive HG002 HG002 chr8:7010562:T:A 2,.,. -1 -1 -1 0.00210231 1 6 59,.,. 1,.,. recessive HG002 HG002 chr8:7010593:T:A 2,.,. -1 -1 -1 0.00525578 0 15 59,.,. 1,.,. recessive HG002 HG002 chr8:7010856:CA:C 2,.,. -1 -1 -1 0.00455501 1 13 57,.,. 1,.,. recessive HG002 HG002 chr8:7011257:T:C 2,.,. -1 -1 -1 0.0161177 1 46 55,.,. 1,.,. recessive HG002 HG002 chr8:7011796:T:C 2,.,. -1 -1 -1 0.0101612 0 29 56,.,. 1,.,. recessive HG002 HG002 chr8:7011943:GA:G 2,.,. -1 -1 -1 0.0108619 0 31 58,.,. 1,.,. recessive HG002 HG002 chr8:7012075:T:C 2,.,. -1 -1 -1 0.0157673 0 45 58,.,. 1,.,. recessive HG002 HG002 chr8:7012197:A:G 2,.,. -1 -1 -1 0.00525578 0 15 60,.,. 1,.,. recessive HG002 HG002 chr8:7012258:C:G 2,.,. -1 -1 -1 0.0024527 0 7 60,.,. 1,.,. recessive HG002 HG002 chr8:7012706:G:C 2,.,. -1 -1 -1 0.00105116 0 3 58,.,. 0.982759,.,. dominant HG002 HG002 chr8:7300097:G:T 1,.,. -1 -1 -1 0.00140154 0 4 32,.,. 0.59375,.,. recessive HG002 HG002 chr8:7691003:C:T 2,.,. 2.52934e-05 0 1 0.00840925 3 24 16,.,. 1,.,. recessive HG002 HG002 chr8:7691288:A:AAGCAAGGAGACC 2,.,. -1 -1 -1 0.00350385 3 10 15,.,. 1,.,. dominant HG002 HG002 chr8:8475098:C:T 1,.,. -1 -1 -1 0.000700771 0 2 34,.,. 0.470588,.,. dominant HG002 HG002 chr8:8476063:G:A 1,.,. -1 -1 -1 0.000700771 0 2 34,.,. 0.470588,.,. dominant HG002 HG002 chr8:8511446:G:A 1,.,. 1.31441e-05 0 2 -1 -1 -1 38,.,. 0.736842,.,. recessive HG002 HG002 chr8:8536133:C:T 2,.,. -1 -1 -1 0.0297828 2 85 49,.,. 1,.,. dominant HG002 HG002 chr8:8647229:AAT:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr8:8647233:C:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr8:8659622:G:A 1,.,. 1.97306e-05 0 3 -1 -1 -1 48,.,. 0.395833,.,. dominant HG002 HG002 chr8:8991656:A:C 1,.,. 1.31522e-05 0 2 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr8:8997660:C:T 1,.,. 1.31428e-05 0 2 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr8:9003063:C:T 1,.,. 1.31359e-05 0 2 -1 -1 -1 ERI1 35_5_prime_utr 40,.,. 0.45,.,. ERI1/5_prime_utr/ENST00000519292;ERI1/5_prime_utr&NMD_transcript/ENST00000521844;ERI1/5_prime_utr/ENST00000250263;ERI1/5_prime_utr&NMD_transcript/ENST00000520684 0.0000 1.0313 1.5260 8 Spondyloepimetaphyseal dysplasia, Guo-Campeau type;Hoxha-Aliu syndrome dominant HG002 HG002 chr8:9004619:G:A 1,.,. 1.33096e-05 0 2 -1 -1 -1 ERI1 50_intron 42,.,. 0.428571,.,. ERI1/intron/ 0.0000 1.0313 1.5260 8 Spondyloepimetaphyseal dysplasia, Guo-Campeau type;Hoxha-Aliu syndrome dominant HG002 HG002 chr8:9025700:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 ERI1 50_intron 48,.,. 0.3125,.,. ERI1/intron/;ERI1/non_coding/ 0.0000 1.0313 1.5260 8 Spondyloepimetaphyseal dysplasia, Guo-Campeau type;Hoxha-Aliu syndrome dominant HG002 HG002 chr8:9091946:T:C 1,.,. -1 -1 -1 -1 -1 -1 ERI1 53_non_coding 51,.,. 0.588235,.,. ERI1/non_coding/ 0.0000 1.0313 1.5260 8 Spondyloepimetaphyseal dysplasia, Guo-Campeau type;Hoxha-Aliu syndrome dominant HG002 HG002 chr8:9118587:T:C 1,.,. 1.38775e-05 0 2 -1 -1 -1 32,.,. 0.25,.,. dominant HG002 HG002 chr8:9624030:A:AACAACAACAACG 1,.,. -1 -1 -1 -1 -1 -1 TNKS 50_intron 52,.,. 0.519231,.,. TNKS/intron/;TNKS/non_coding/ 0.0000 0.5082 0.6390 2 dominant HG002 HG002 chr8:9937506:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.380952,.,. dominant HG002 HG002 chr8:10185506:T:TGTGC 1,.,. -1 -1 -1 -1 -1 -1 MSRA 50_intron 28,.,. 0.5,.,. MSRA/intron/;MSRA/non_coding/ 0.0000 1.8742 1.9760 9 dominant HG002 HG002 chr8:10185508:G:T 1,.,. 6.59874e-06 0 1 -1 -1 -1 MSRA 50_intron 28,.,. 0.5,.,. MSRA/intron/;MSRA/non_coding/ 0.0000 1.8742 1.9760 9 dominant HG002 HG002 chr8:10211367:C:T 1,.,. 1.3147e-05 0 2 -1 -1 -1 MSRA 50_intron 37,.,. 0.540541,.,. MSRA/intron/;MSRA/non_coding/ 0.0000 1.8742 1.9760 9 recessive HG002 HG002 chr8:10504455:T:A 2,.,. -1 -1 -1 -1 -1 -1 PRSS51 50_intron 27,.,. 1,.,. PRSS51/non_coding/;PRSS51/intron/ recessive HG002 HG002 chr8:10504456:C:T 2,.,. 4.55249e-05 0 5 -1 -1 -1 PRSS51 50_intron 27,.,. 1,.,. PRSS51/non_coding/;PRSS51/intron/ dominant HG002 HG002 chr8:10605165:G:C 1,.,. 1.31492e-05 0 2 -1 -1 -1 18,.,. 0.611111,.,. dominant HG002 HG002 chr8:10646457:T:C 1,.,. 2.63082e-05 0 4 -1 -1 -1 RP1L1 50_intron 32,.,. 0.375,.,. RP1L1/intron/;RP1L1/non_coding/ 0.0000 1.6277 1.9440 9 Retinitis pigmentosa 88 0.000 dominant HG002 HG002 chr8:11003158:AAATAAT:A 1,.,. -1 -1 -1 -1 -1 -1 XKR6 50_intron 30,.,. 0.5,.,. XKR6/intron/ 0.0417 0.4472 0.6390 2 dominant HG002 HG002 chr8:11003165:A:G 1,.,. -1 -1 -1 -1 -1 -1 XKR6 50_intron 30,.,. 0.5,.,. XKR6/intron/ 0.0417 0.4472 0.6390 2 dominant HG002 HG002 chr8:11003166:G:T 1,.,. -1 -1 -1 -1 -1 -1 XKR6 50_intron 30,.,. 0.5,.,. XKR6/intron/ 0.0417 0.4472 0.6390 2 dominant HG002 HG002 chr8:11526770:TGTGTTTCATCAGTA:T 1,.,. -1 -1 -1 -1 -1 -1 BLK 50_intron 43,.,. 0.418605,.,. BLK/intron/ 0.0000 1.0504 1.2950 7 Maturity-onset diabetes of the young type 11 0.000 dominant HG002 HG002 chr8:11526787:T:A 1,.,. -1 -1 -1 -1 -1 -1 BLK 50_intron 43,.,. 0.418605,.,. BLK/intron/ 0.0000 1.0504 1.2950 7 Maturity-onset diabetes of the young type 11 0.000 dominant HG002 HG002 chr8:11526788:T:A 1,.,. -1 -1 -1 -1 -1 -1 BLK 50_intron 43,.,. 0.418605,.,. BLK/intron/ 0.0000 1.0504 1.2950 7 Maturity-onset diabetes of the young type 11 0.000 dominant HG002 HG002 chr8:11639230:C:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.416667,.,. dominant HG002 HG002 chr8:11924744:TTTC:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.289474,.,. dominant HG002 HG002 chr8:11924749:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr8:12371917:C:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.55814,.,. dominant HG002 HG002 chr8:12393394:C:T 1,.,. -1 -1 -1 -1 -1 -1 DEFB109A 53_non_coding 36,.,. 0.416667,.,. DEFB109A/non_coding/ recessive HG002 HG002 chr8:12562584:C:T 2,.,. -1 -1 -1 -1 -1 -1 127,.,. 1,.,. dominant HG002 HG002 chr8:12581340:T:A 1,.,. 9.8824e-05 0 2 -1 -1 -1 115,.,. 0.391304,.,. dominant HG002 HG002 chr8:12647280:T:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.612903,.,. dominant HG002 HG002 chr8:12701044:T:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.344828,.,. dominant HG002 HG002 chr8:13101171:A:G 1,.,. 2.62843e-05 0 4 -1 -1 -1 DLC1 50_intron 33,.,. 0.545455,.,. DLC1/intron/;DLC1/non_coding/ 0.9876 0.3778 0.4740 1 Colorectal cancer 0.000 dominant HG002 HG002 chr8:13111136:T:C 1,.,. 1.97114e-05 0 3 -1 -1 -1 DLC1 50_intron 40,.,. 0.525,.,. DLC1/intron/;DLC1/non_coding/ 0.9876 0.3778 0.4740 1 Colorectal cancer 0.000 dominant HG002 HG002 chr8:13188441:A:G 1,.,. 2.81231e-05 0 4 -1 -1 -1 DLC1 50_intron 43,.,. 0.44186,.,. DLC1/intron/;DLC1/non_coding/ 0.9876 0.3778 0.4740 1 Colorectal cancer 0.000 recessive HG002 HG002 chr8:13321567:G:A 2,.,. -1 -1 -1 -1 -1 -1 DLC1 50_intron 51,.,. 1,.,. DLC1/intron/ 0.9876 0.3778 0.4740 1 Colorectal cancer 0.000 dominant HG002 HG002 chr8:13490050:C:A 1,.,. -1 -1 -1 -1 -1 -1 DLC1 50_intron 45,.,. 0.444444,.,. DLC1/intron/ 0.9876 0.3778 0.4740 1 Colorectal cancer 0.000 dominant HG002 HG002 chr8:13490051:A:C 1,.,. -1 -1 -1 -1 -1 -1 DLC1 50_intron 46,.,. 0.434783,.,. DLC1/intron/ 0.9876 0.3778 0.4740 1 Colorectal cancer 0.000 dominant HG002 HG002 chr8:13490052:C:A 1,.,. -1 -1 -1 -1 -1 -1 DLC1 50_intron 45,.,. 0.444444,.,. DLC1/intron/ 0.9876 0.3778 0.4740 1 Colorectal cancer 0.000 recessive HG002 HG002 chr8:13496785:CCTTTTTTTTT:C 2,.,. 0.000115875 0 1 0.00315347 1 9 DLC1 50_intron 28,.,. 1,.,. DLC1/intron/ 0.9876 0.3778 0.4740 1 Colorectal cancer 0.000 dominant HG002 HG002 chr8:13607490:A:AAGACAG 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr8:13607492:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr8:13607493:C:A 1,.,. 1.31558e-05 0 2 -1 -1 -1 44,.,. 0.5,.,. recessive HG002 HG002 chr8:13639533:G:GTCTGC 2,.,. 2.64103e-05 0 4 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr8:13639535:G:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr8:13645661:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.609756,.,. dominant HG002 HG002 chr8:13848792:G:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. recessive HG002 HG002 chr8:13936575:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr8:14069463:A:AAACAAC 1,.,. 2.64208e-05 0 4 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr8:14188838:G:T 1,.,. -1 -1 -1 0.00140154 0 4 SGCZ 50_intron 40,.,. 0.45,.,. SGCZ/intron/ 0.0000 1.0045 1.3320 7 dominant HG002 HG002 chr8:14245326:C:CA 1,.,. 2.63134e-05 0 4 -1 -1 -1 SGCZ 50_intron 39,.,. 0.512821,.,. SGCZ/intron/ 0.0000 1.0045 1.3320 7 dominant HG002 HG002 chr8:14611342:G:T 1,.,. -1 -1 -1 -1 -1 -1 SGCZ 50_intron 44,.,. 0.431818,.,. SGCZ/intron/ 0.0000 1.0045 1.3320 7 dominant HG002 HG002 chr8:14620967:C:A 1,.,. 1.97239e-05 0 3 -1 -1 -1 SGCZ 50_intron 38,.,. 0.473684,.,. SGCZ/intron/ 0.0000 1.0045 1.3320 7 dominant HG002 HG002 chr8:14668930:GTGTGTA:G 1,.,. 5.74944e-05 0 2 -1 -1 -1 SGCZ 50_intron 42,.,. 0.404762,.,. SGCZ/intron/ 0.0000 1.0045 1.3320 7 dominant HG002 HG002 chr8:14668938:G:A 1,.,. -1 -1 -1 -1 -1 -1 SGCZ 50_intron 41,.,. 0.414634,.,. SGCZ/intron/ 0.0000 1.0045 1.3320 7 dominant HG002 HG002 chr8:14948881:C:T 1,.,. -1 -1 -1 -1 -1 -1 SGCZ 50_intron 42,.,. 0.47619,.,. SGCZ/intron/ 0.0000 1.0045 1.3320 7 dominant HG002 HG002 chr8:15104698:CCT:C 1,.,. -1 -1 -1 -1 -1 -1 SGCZ 50_intron 44,.,. 0.386364,.,. SGCZ/intron/ 0.0000 1.0045 1.3320 7 dominant HG002 HG002 chr8:15104701:A:T 1,.,. -1 -1 -1 -1 -1 -1 SGCZ 50_intron 44,.,. 0.386364,.,. SGCZ/intron/ 0.0000 1.0045 1.3320 7 dominant HG002 HG002 chr8:15259044:T:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.305556,.,. dominant HG002 HG002 chr8:15268184:C:G 1,.,. 2.62671e-05 0 4 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr8:15277874:G:C 1,.,. 6.57921e-06 0 1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr8:15303733:C:T 1,.,. 6.57497e-06 0 1 -1 -1 -1 33,.,. 0.575758,.,. dominant HG002 HG002 chr8:15316971:G:C 1,.,. 1.97127e-05 0 3 -1 -1 -1 35,.,. 0.685714,.,. dominant HG002 HG002 chr8:15353879:A:T 1,.,. 1.6685e-05 0 1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr8:15568413:G:C 1,.,. 1.31591e-05 0 2 -1 -1 -1 TUSC3 50_intron 38,.,. 0.421053,.,. TUSC3/non_coding/;TUSC3/intron/ 0.0000 1.0129 1.3100 7 Intellectual disability, autosomal recessive 7 0.000 dominant HG002 HG002 chr8:15617476:C:T 1,.,. 1.31582e-05 0 2 0.000700771 0 2 TUSC3 50_intron 42,.,. 0.547619,.,. TUSC3/non_coding/;TUSC3/intron/ 0.0000 1.0129 1.3100 7 Intellectual disability, autosomal recessive 7 0.000 dominant HG002 HG002 chr8:15618343:A:T 1,.,. 1.31399e-05 0 2 -1 -1 -1 TUSC3 50_intron 44,.,. 0.522727,.,. TUSC3/non_coding/;TUSC3/intron/ 0.0000 1.0129 1.3100 7 Intellectual disability, autosomal recessive 7 0.000 dominant HG002 HG002 chr8:15775635:T:TATATAC 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr8:16055512:T:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. recessive HG002 HG002 chr8:16090498:A:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr8:16090499:T:A 2,.,. 0.000506839 0 77 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr8:16102132:A:C 2,.,. 6.59265e-06 0 1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr8:16589252:AGAGTTTTTATCAT:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr8:16589269:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr8:16589270:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr8:16827645:A:ATACATG 1,.,. 0.000327011 0 3 -1 -1 -1 26,.,. 0.576923,.,. recessive HG002 HG002 chr8:16857948:GACT:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr8:16857954:T:A 2,.,. 0.00103446 0 32 -1 -1 -1 49,.,. 1,.,. dominant HG002 HG002 chr8:17147280:CTCTG:C 1,.,. 5.87061e-05 0 1 -1 -1 -1 47,.,. 0.489362,.,. recessive HG002 HG002 chr8:17423603:A:G 2,.,. 0.0279851 0 30 0.00210231 0 6 26,.,. 1,.,. dominant HG002 HG002 chr8:17579527:A:T 1,.,. -1 -1 -1 -1 -1 -1 PDGFRL 50_intron 28,.,. 0.571429,.,. PDGFRL/intron/ 0.0000 1.2480 1.6390 8 Colorectal cancer 0.000 dominant HG002 HG002 chr8:17579528:CAGTCTTTATTATTAT:C 1,.,. -1 -1 -1 -1 -1 -1 PDGFRL 50_intron 28,.,. 0.571429,.,. PDGFRL/intron/ 0.0000 1.2480 1.6390 8 Colorectal cancer 0.000 dominant HG002 HG002 chr8:17847279:C:T 1,.,. 2.62819e-05 0 4 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr8:17884081:TTCCC:T 1,.,. 2.3443e-05 0 3 -1 -1 -1 FGL1 50_intron 33,.,. 0.515152,.,. FGL1/intron/ 0.0000 1.3820 1.7530 8 dominant HG002 HG002 chr8:17884095:C:T 1,.,. -1 -1 -1 -1 -1 -1 FGL1 50_intron 33,.,. 0.515152,.,. FGL1/intron/ 0.0000 1.3820 1.7530 8 dominant HG002 HG002 chr8:18074391:AACTT:A 1,.,. -1 -1 -1 -1 -1 -1 ASAH1 50_intron 40,.,. 0.525,.,. ASAH1/intron/;ASAH1/non_coding/ 0.0000 1.1391 1.4350 7 Farber lipogranulomatosis;Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 0.000 dominant HG002 HG002 chr8:18074397:G:T 1,.,. -1 -1 -1 -1 -1 -1 ASAH1 50_intron 40,.,. 0.525,.,. ASAH1/intron/;ASAH1/non_coding/ 0.0000 1.1391 1.4350 7 Farber lipogranulomatosis;Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 0.000 dominant HG002 HG002 chr8:18273206:T:TTTA 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.553191,.,. dominant HG002 HG002 chr8:18273208:G:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.553191,.,. dominant HG002 HG002 chr8:18273210:C:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.553191,.,. dominant HG002 HG002 chr8:18273211:A:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.553191,.,. dominant HG002 HG002 chr8:18560207:C:A 1,.,. 6.69057e-06 0 1 -1 -1 -1 PSD3 50_intron 34,.,. 0.647059,.,. PSD3/intron/;PSD3/non_coding/ 0.0108 0.4402 0.5710 1 recessive HG002 HG002 chr8:18569853:A:C 2,.,. -1 -1 -1 -1 -1 -1 PSD3 50_intron 31,.,. 1,.,. PSD3/intron/;PSD3/non_coding/ 0.0108 0.4402 0.5710 1 recessive HG002 HG002 chr8:18569854:A:T 2,.,. -1 -1 -1 -1 -1 -1 PSD3 50_intron 31,.,. 1,.,. PSD3/intron/;PSD3/non_coding/ 0.0108 0.4402 0.5710 1 recessive HG002 HG002 chr8:18569855:T:C 2,.,. -1 -1 -1 -1 -1 -1 PSD3 50_intron 31,.,. 1,.,. PSD3/intron/;PSD3/non_coding/ 0.0108 0.4402 0.5710 1 recessive HG002 HG002 chr8:18598202:T:C 2,.,. -1 -1 -1 -1 -1 -1 PSD3 50_intron 26,.,. 1,.,. PSD3/intron/;PSD3/non_coding/ 0.0108 0.4402 0.5710 1 recessive HG002 HG002 chr8:18598248:T:C 2,.,. -1 -1 -1 -1 -1 -1 PSD3 50_intron 24,.,. 1,.,. PSD3/intron/;PSD3/non_coding/ 0.0108 0.4402 0.5710 1 dominant HG002 HG002 chr8:18942498:A:G 1,.,. -1 -1 -1 -1 -1 -1 PSD3 50_intron 31,.,. 0.483871,.,. PSD3/intron/;PSD3/non_coding/ 0.0108 0.4402 0.5710 1 dominant HG002 HG002 chr8:19109627:CTTCCCTTTT:C 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.481481,.,. recessive HG002 HG002 chr8:19234429:T:C 2,.,. 0.000510665 1 61 0.0269797 4 77 24,.,. 1,.,. dominant HG002 HG002 chr8:19311470:A:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. recessive HG002 HG002 chr8:19655553:T:C 2,.,. 0.0123069 0 137 0.0126139 2 36 CSGALNACT1 50_intron 31,.,. 1,.,. CSGALNACT1/intron/;CSGALNACT1/non_coding/ 0.0000 0.9975 1.2570 7 Skeletal dysplasia, mild, with joint laxity and advanced bone age 0.000 dominant HG002 HG002 chr8:19680575:C:T 1,.,. -1 -1 -1 -1 -1 -1 CSGALNACT1 50_intron 32,.,. 0.65625,.,. CSGALNACT1/intron/;CSGALNACT1/non_coding/ 0.0000 0.9975 1.2570 7 Skeletal dysplasia, mild, with joint laxity and advanced bone age 0.000 dominant HG002 HG002 chr8:20368497:T:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.242424,.,. dominant HG002 HG002 chr8:20433156:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.35,.,. dominant HG002 HG002 chr8:20477117:G:GCACTCACT 1,.,. 4.71832e-05 0 2 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr8:20509141:A:ATATATATATATACG 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr8:21006971:G:T 1,.,. 2.62954e-05 0 4 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr8:21041291:A:T 1,.,. 2.62878e-05 0 4 -1 -1 -1 10,.,. 0.7,.,. dominant HG002 HG002 chr8:21171913:C:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.358974,.,. dominant HG002 HG002 chr8:21171915:C:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr8:21393507:GCAC:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr8:21393511:T:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr8:21768713:G:C 1,.,. 6.57626e-06 0 1 -1 -1 -1 GFRA2 50_intron 23,.,. 0.347826,.,. GFRA2/intron/ 0.1042 0.4445 0.6950 2 dominant HG002 HG002 chr8:21946585:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 XPO7 50_intron 37,.,. 0.405405,.,. XPO7/intron/;XPO7/non_coding/ 1.0000 0.1244 0.1870 0 dominant HG002 HG002 chr8:22056807:C:T 1,.,. -1 -1 -1 -1 -1 -1 DMTN 50_intron 23,.,. 0.434783,.,. DMTN/intron/;DMTN/non_coding/ 0.0008 0.5042 0.6950 2 dominant HG002 HG002 chr8:22187324:A:AATTT 1,.,. -1 -1 -1 -1 -1 -1 BMP1 50_intron 19,.,. 0.578947,.,. BMP1/intron/;BMP1/non_coding/ 0.0000 0.5250 0.6480 2 Osteogenesis imperfecta type 13 0.000 dominant HG002 HG002 chr8:22410492:T:A 1,.,. -1 -1 -1 -1 -1 -1 SLC39A14 50_intron 35,.,. 0.514286,.,. SLC39A14/intron/ 0.3735 0.4037 0.5920 2 Hypermanganesemia with dystonia 2 0.000 dominant HG002 HG002 chr8:22410493:C:T 1,.,. -1 -1 -1 -1 -1 -1 SLC39A14 50_intron 35,.,. 0.514286,.,. SLC39A14/intron/ 0.3735 0.4037 0.5920 2 Hypermanganesemia with dystonia 2 0.000 dominant HG002 HG002 chr8:22410494:T:A 1,.,. -1 -1 -1 -1 -1 -1 SLC39A14 50_intron 34,.,. 0.529412,.,. SLC39A14/intron/ 0.3735 0.4037 0.5920 2 Hypermanganesemia with dystonia 2 0.000 dominant HG002 HG002 chr8:22410496:GGCA:G 1,.,. -1 -1 -1 -1 -1 -1 SLC39A14 50_intron 35,.,. 0.514286,.,. SLC39A14/intron/ 0.3735 0.4037 0.5920 2 Hypermanganesemia with dystonia 2 0.000 dominant HG002 HG002 chr8:22722665:C:A 1,.,. 2.62822e-05 0 4 -1 -1 -1 PEBP4 50_intron 27,.,. 0.444444,.,. PEBP4/intron/ 0.0000 0.8794 1.2660 7 dominant HG002 HG002 chr8:22757920:C:T 1,.,. 6.56892e-06 0 1 -1 -1 -1 PEBP4 50_intron 33,.,. 0.515152,.,. PEBP4/intron/ 0.0000 0.8794 1.2660 7 dominant HG002 HG002 chr8:23036078:A:AGAT 1,.,. -1 -1 -1 -1 -1 -1 TNFRSF10B 50_intron 30,.,. 0.7,.,. TNFRSF10B/intron/;TNFRSF10B/non_coding/ 0.0000 0.8083 1.0760 5 Squamous cell carcinoma of the head and neck 0.000 dominant HG002 HG002 chr8:23036079:T:A 1,.,. -1 -1 -1 -1 -1 -1 TNFRSF10B 50_intron 30,.,. 0.7,.,. TNFRSF10B/intron/;TNFRSF10B/non_coding/ 0.0000 0.8083 1.0760 5 Squamous cell carcinoma of the head and neck 0.000 recessive HG002 HG002 chr8:23296744:C:G 2,.,. 0.00128087 0 195 0.000700771 0 2 27,.,. 1,.,. recessive HG002 HG002 chr8:23317962:G:A 2,.,. 5.75606e-05 0 2 -1 -1 -1 LOXL2 50_intron 26,.,. 1,.,. LOXL2/intron/;LOXL2/non_coding/ 0.0000 0.7300 0.8990 4 recessive HG002 HG002 chr8:23317963:TATCTC:T 2,.,. -1 -1 -1 -1 -1 -1 LOXL2 50_intron 26,.,. 1,.,. LOXL2/intron/;LOXL2/non_coding/ 0.0000 0.7300 0.8990 4 dominant HG002 HG002 chr8:23595147:C:G 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.5,.,. dominant HG002 HG002 chr8:23861432:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.32,.,. recessive HG002 HG002 chr8:24493483:T:G 2,.,. -1 -1 -1 -1 -1 -1 ADAM7 50_intron 45,.,. 1,.,. ADAM7/intron/ 0.0000 0.9481 1.1600 6 recessive HG002 HG002 chr8:24493491:G:A 2,.,. -1 -1 -1 -1 -1 -1 ADAM7 50_intron 44,.,. 1,.,. ADAM7/intron/ 0.0000 0.9481 1.1600 6 dominant HG002 HG002 chr8:24818123:CGT:C 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.692308,.,. dominant HG002 HG002 chr8:24834299:C:CTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.324324,.,. dominant HG002 HG002 chr8:24837121:TTTTTTA:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.341463,.,. dominant HG002 HG002 chr8:24857719:A:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.571429,.,. dominant HG002 HG002 chr8:25195134:T:G 1,.,. -1 -1 -1 -1 -1 -1 DOCK5 50_intron 35,.,. 0.4,.,. DOCK5/intron/ 0.0000 0.5855 0.6790 2 recessive HG002 HG002 chr8:25232330:G:A 2,.,. -1 -1 -1 -1 -1 -1 DOCK5 50_intron 38,.,. 1,.,. DOCK5/intron/ 0.0000 0.5855 0.6790 2 recessive HG002 HG002 chr8:25387204:A:C 2,.,. 6.71105e-06 0 1 -1 -1 -1 DOCK5 50_intron 35,.,. 1,.,. DOCK5/intron/ 0.0000 0.5855 0.6790 2 recessive HG002 HG002 chr8:25659814:G:GGT 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr8:25659815:T:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr8:25741444:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr8:25870904:C:G 1,.,. -1 -1 -1 -1 -1 -1 EBF2 50_intron 52,.,. 0.480769,.,. EBF2/intron/ 1.0000 0.2626 0.3940 0 dominant HG002 HG002 chr8:26086297:A:AAAAC 1,.,. -1 -1 -1 0.000700771 0 2 37,.,. 0.405405,.,. dominant HG002 HG002 chr8:26086298:G:A 1,.,. 2.0784e-05 0 3 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr8:26086300:T:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr8:26544056:A:ATTTCACTTCC 1,.,. -1 -1 -1 -1 -1 -1 DPYSL2 50_intron 51,.,. 0.509804,.,. DPYSL2/intron/ 1.0000 0.1753 0.2900 0 dominant HG002 HG002 chr8:26544058:C:T 1,.,. -1 -1 -1 -1 -1 -1 DPYSL2 50_intron 49,.,. 0.530612,.,. DPYSL2/intron/ 1.0000 0.1753 0.2900 0 dominant HG002 HG002 chr8:26615301:ACT:A 1,.,. 1.97517e-05 0 3 -1 -1 -1 DPYSL2 50_intron 29,.,. 0.37931,.,. DPYSL2/intron/ 1.0000 0.1753 0.2900 0 dominant HG002 HG002 chr8:26616791:G:GGAGGGCTCTCCA 1,.,. -1 -1 -1 -1 -1 -1 DPYSL2 50_intron 28,.,. 0.678571,.,. DPYSL2/intron/ 1.0000 0.1753 0.2900 0 dominant HG002 HG002 chr8:26616792:A:T 1,.,. -1 -1 -1 -1 -1 -1 DPYSL2 50_intron 28,.,. 0.678571,.,. DPYSL2/intron/ 1.0000 0.1753 0.2900 0 dominant HG002 HG002 chr8:27080018:T:TTCCCCTCCC 1,.,. 3.04748e-05 0 1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr8:27123283:T:TTTGTTTTGTTTTG 1,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.366667,.,. dominant HG002 HG002 chr8:27616322:GA:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr8:27654805:A:G 1,.,. -1 -1 -1 -1 -1 -1 SCARA3 50_intron 25,.,. 0.64,.,. SCARA3/intron/ 0.0000 0.8614 1.1330 6 dominant HG002 HG002 chr8:27660706:G:A 1,.,. -1 -1 -1 -1 -1 -1 SCARA3 50_intron 34,.,. 0.617647,.,. SCARA3/intron/ 0.0000 0.8614 1.1330 6 recessive HG002 HG002 chr8:27952056:A:C 2,.,. -1 -1 -1 -1 -1 -1 SCARA5 50_intron 18,.,. 1,.,. SCARA5/intron/ 0.0000 1.0670 1.3940 7 dominant HG002 HG002 chr8:28090478:G:GGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 ELP3 50_intron 24,.,. 0.375,.,. ELP3/intron/ 0.0000 0.7355 0.9360 4 dominant HG002 HG002 chr8:28198595:AACATATATTT:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr8:28198607:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr8:28205711:A:AACT 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.408163,.,. dominant HG002 HG002 chr8:28205712:C:T 1,.,. 4.73276e-05 0 3 -1 -1 -1 47,.,. 0.425532,.,. recessive HG002 HG002 chr8:28276395:A:AAAAT 2,.,. 0.00799744 0 50 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr8:28276408:T:A 2,.,. 4.61693e-05 0 7 0.00280308 0 8 39,.,. 1,.,. dominant HG002 HG002 chr8:28287672:T:G 1,.,. 6.61209e-06 0 1 -1 -1 -1 32,.,. 0.3125,.,. dominant HG002 HG002 chr8:28308945:C:T 1,.,. -1 -1 -1 0.00105116 0 3 31,.,. 0.580645,.,. dominant HG002 HG002 chr8:28383408:T:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF395;FBXO16 50_intron 29,.,. 0.517241,.,. ZNF395/intron/;FBXO16/intron/ 0.8387;;0.0000 0.3713;;0.6870 0.5400;;0.9660 1;;4 dominant HG002 HG002 chr8:28556690:G:C 1,.,. -1 -1 -1 -1 -1 -1 FZD3 50_intron 39,.,. 0.641026,.,. FZD3/intron/ 0.9686 0.3232 0.5140 1 dominant HG002 HG002 chr8:28556696:A:ATATATTTTGTAGCATATATTTGACTACATATTGAC 1,.,. -1 -1 -1 -1 -1 -1 FZD3 50_intron 37,.,. 0.621622,.,. FZD3/intron/ 0.9686 0.3232 0.5140 1 dominant HG002 HG002 chr8:28556697:G:T 1,.,. -1 -1 -1 -1 -1 -1 FZD3 50_intron 39,.,. 0.641026,.,. FZD3/intron/ 0.9686 0.3232 0.5140 1 dominant HG002 HG002 chr8:28556698:T:A 1,.,. -1 -1 -1 -1 -1 -1 FZD3 50_intron 39,.,. 0.641026,.,. FZD3/intron/ 0.9686 0.3232 0.5140 1 dominant HG002 HG002 chr8:28570307:CATGG:C 1,.,. -1 -1 -1 -1 -1 -1 FZD3 36_3_prime_utr 34,.,. 0.529412,.,. FZD3/3_prime_utr/ENST00000537916;FZD3/3_prime_utr/ENST00000240093 0.9686 0.3232 0.5140 1 dominant HG002 HG002 chr8:28570312:C:T 1,.,. -1 -1 -1 -1 -1 -1 FZD3 36_3_prime_utr 34,.,. 0.529412,.,. FZD3/3_prime_utr/ENST00000537916;FZD3/3_prime_utr/ENST00000240093 0.9686 0.3232 0.5140 1 dominant HG002 HG002 chr8:28664123:C:G 1,.,. -1 -1 -1 -1 -1 -1 EXTL3 50_intron 37,.,. 0.324324,.,. EXTL3/non_coding/;EXTL3/intron/ 0.9260 0.3707 0.5110 1 Immunoskeletal dysplasia with neurodevelopmental abnormalities 0.000 dominant HG002 HG002 chr8:29120445:T:C 1,.,. -1 -1 -1 -1 -1 -1 KIF13B 50_intron 34,.,. 0.588235,.,. KIF13B/intron/ 0.0000 0.6222 0.7380 2 dominant HG002 HG002 chr8:29288132:GTCACTGCC:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr8:29288141:A:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr8:29623694:A:C 1,.,. 1.49125e-05 0 1 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr8:30233196:G:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.344828,.,. dominant HG002 HG002 chr8:30397763:G:A 1,.,. -1 -1 -1 0.00105116 0 3 RBPMS 50_intron 27,.,. 0.444444,.,. RBPMS/intron/ 0.4971 0.3716 0.7330 2 recessive HG002 HG002 chr8:30720856:CACAGGT:C 2,.,. -1 -1 -1 -1 -1 -1 GSR 50_intron 28,.,. 1,.,. GSR/intron/;GSR/non_coding/ 0.0000 0.8274 1.1820 6 Hemolytic anemia due to glutathione reductase deficiency 0.000 recessive HG002 HG002 chr8:30723818:A:C 2,.,. 0.00601181 0 112 -1 -1 -1 GSR 50_intron 25,.,. 1,.,. GSR/intron/;GSR/non_coding/ 0.0000 0.8274 1.1820 6 Hemolytic anemia due to glutathione reductase deficiency 0.000 dominant HG002 HG002 chr8:30846433:C:G 1,.,. -1 -1 -1 -1 -1 -1 TEX15 14_missense 38,.,. 0.526316,.,. TEX15/missense/ENST00000638951;TEX15/missense/ENST00000643185;TEX15/missense/ENST00000256246 0.0000 0.6899 0.7890 3 Spermatogenic failure 25 0.000 recessive HG002 HG002 chr8:30912334:T:C 2,.,. 6.62937e-06 0 1 -1 -1 -1 TEX15 50_intron 27,.,. 1,.,. TEX15/intron/ 0.0000 0.6899 0.7890 3 Spermatogenic failure 25 0.000 dominant HG002 HG002 chr8:31043940:AT:A 1,.,. 1.31841e-05 0 2 -1 -1 -1 WRN 50_intron 41,.,. 0.560976,.,. WRN/intron/ 0.0000 0.7775 0.9000 4 Werner syndrome 0.000 dominant HG002 HG002 chr8:31189363:T:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr8:31254951:G:A 1,.,. 1.31764e-05 0 2 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr8:31370465:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr8:31673881:T:A 1,.,. -1 -1 -1 -1 -1 -1 NRG1 50_intron 37,.,. 0.351351,.,. NRG1/intron/ 1.0000 0.2614 0.3970 0 Schizophrenia 6 dominant HG002 HG002 chr8:31673882:TGTATGAAGCCAACA:T 1,.,. -1 -1 -1 -1 -1 -1 NRG1 50_intron 37,.,. 0.351351,.,. NRG1/intron/ 1.0000 0.2614 0.3970 0 Schizophrenia 6 dominant HG002 HG002 chr8:32427918:A:C 1,.,. 2.6284e-05 0 4 -1 -1 -1 NRG1 50_intron 54,.,. 0.5,.,. NRG1/intron/;NRG1/non_coding/ 1.0000 0.2614 0.3970 0 Schizophrenia 6 dominant HG002 HG002 chr8:32786176:A:G 1,.,. -1 -1 -1 -1 -1 -1 NRG1 50_intron 31,.,. 0.419355,.,. NRG1/intron/ 1.0000 0.2614 0.3970 0 Schizophrenia 6 dominant HG002 HG002 chr8:32800763:C:T 1,.,. -1 -1 -1 -1 -1 -1 NRG1 50_intron 37,.,. 0.486486,.,. NRG1/intron/ 1.0000 0.2614 0.3970 0 Schizophrenia 6 recessive HG002 HG002 chr8:32804987:G:T 2,.,. -1 -1 -1 0.0112123 1 32 NRG1 50_intron 40,.,. 1,.,. NRG1/intron/ 1.0000 0.2614 0.3970 0 Schizophrenia 6 dominant HG002 HG002 chr8:33175596:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. recessive HG002 HG002 chr8:34126756:AGTATTCCAT:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr8:34126766:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr8:34245287:A:AT 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.595745,.,. dominant HG002 HG002 chr8:34245288:C:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.604167,.,. dominant HG002 HG002 chr8:34245290:A:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.604167,.,. dominant HG002 HG002 chr8:34245291:G:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.604167,.,. dominant HG002 HG002 chr8:34245292:C:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.604167,.,. recessive HG002 HG002 chr8:34529080:C:CGGGTG 2,.,. 1.32859e-05 0 1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr8:34529083:T:G 2,.,. 0.000117411 0 9 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr8:34757959:G:A 1,.,. 1.97202e-05 0 3 -1 -1 -1 38,.,. 0.5,.,. recessive HG002 HG002 chr8:34773158:C:A 2,.,. 0.000426694 1 65 0.000700771 0 2 39,.,. 1,.,. dominant HG002 HG002 chr8:34788887:T:C 1,.,. 2.03569e-05 0 3 -1 -1 -1 26,.,. 0.538462,.,. recessive HG002 HG002 chr8:34831630:TATATAA:T 2,.,. 0.000215381 0 32 0.000700771 0 2 37,.,. 1,.,. recessive HG002 HG002 chr8:34945280:G:A 2,.,. 0.00035467 1 54 0.000700771 0 2 48,.,. 1,.,. recessive HG002 HG002 chr8:35053546:C:T 2,.,. 0.00494283 4 753 0.00140154 0 4 57,.,. 1,.,. dominant HG002 HG002 chr8:35095293:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.547619,.,. recessive HG002 HG002 chr8:35152351:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr8:35152353:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr8:35316102:T:C 2,.,. 0.000223464 0 34 0.000700771 0 2 UNC5D 50_intron 37,.,. 1,.,. UNC5D/intron/ 0.9948 0.3607 0.4730 1 recessive HG002 HG002 chr8:35451177:G:A 2,.,. 0.000336301 0 51 0.000700771 0 2 UNC5D 50_intron 46,.,. 1,.,. UNC5D/intron/ 0.9948 0.3607 0.4730 1 dominant HG002 HG002 chr8:35476880:G:T 1,.,. -1 -1 -1 -1 -1 -1 UNC5D 50_intron 47,.,. 0.510638,.,. UNC5D/intron/ 0.9948 0.3607 0.4730 1 recessive HG002 HG002 chr8:35487596:C:T 2,.,. 5.27287e-05 0 8 -1 -1 -1 UNC5D 50_intron 36,.,. 1,.,. UNC5D/intron/ 0.9948 0.3607 0.4730 1 recessive HG002 HG002 chr8:35532671:C:T 2,.,. -1 -1 -1 0.00946041 0 27 UNC5D 50_intron 32,.,. 1,.,. UNC5D/intron/ 0.9948 0.3607 0.4730 1 recessive HG002 HG002 chr8:35813153:T:C 2,.,. 0.000420544 0 64 0.000700771 0 2 38,.,. 1,.,. recessive HG002 HG002 chr8:35938393:C:G 2,.,. 0.000210349 0 32 0.000700771 0 2 36,.,. 1,.,. recessive HG002 HG002 chr8:35955035:C:T 2,.,. 0.000223596 0 34 0.000700771 0 2 34,.,. 1,.,. recessive HG002 HG002 chr8:36137460:T:A 2,.,. 0.000571804 0 87 0.000700771 0 2 41,.,. 1,.,. recessive HG002 HG002 chr8:36380295:T:G 2,.,. 0.000611488 0 93 0.000700771 0 2 40,.,. 1,.,. dominant HG002 HG002 chr8:37010917:GTGTGTGTGTC:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.583333,.,. dominant HG002 HG002 chr8:37010931:G:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.355556,.,. dominant HG002 HG002 chr8:37010935:G:C 1,.,. 2.41138e-05 0 2 -1 -1 -1 44,.,. 0.613636,.,. dominant HG002 HG002 chr8:37019907:C:T 1,.,. 6.57324e-06 0 1 -1 -1 -1 35,.,. 0.628571,.,. recessive HG002 HG002 chr8:37512473:GGC:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr8:37512476:A:C 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chr8:37959907:C:G 1,.,. 1.97337e-05 0 3 -1 -1 -1 AC144573.1 50_intron 22,.,. 0.545455,.,. AC144573.1/intron/ dominant HG002 HG002 chr8:38036075:A:AGCTCACTGCAGCATCCGCCTCCTGAGTTCAAGCAATTCTCCTGCCTCG 1,.,. -1 -1 -1 -1 -1 -1 EIF4EBP1 50_intron 27,.,. 0.296296,.,. EIF4EBP1/intron/ 0.0535 0.6117 1.2820 7 recessive HG002 HG002 chr8:38475350:A:AAT 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr8:38475351:T:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr8:38709148:T:TCATTATACC 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.416667,.,. dominant HG002 HG002 chr8:38709151:T:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.428571,.,. dominant HG002 HG002 chr8:38709152:C:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.428571,.,. recessive HG002 HG002 chr8:39580688:C:CGGTCATGCT 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr8:39580689:A:G 2,.,. 1.31627e-05 0 2 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr8:39944275:C:CACTAAAT 2,.,. -1 -1 -1 -1 -1 -1 IDO2 50_intron 38,.,. 1,.,. IDO2/non_coding/;IDO2/intron/ 0.0000 0.8270 1.2560 7 recessive HG002 HG002 chr8:39944276:T:A 2,.,. 6.58892e-06 0 1 -1 -1 -1 IDO2 50_intron 40,.,. 1,.,. IDO2/non_coding/;IDO2/intron/ 0.0000 0.8270 1.2560 7 recessive HG002 HG002 chr8:39944277:T:C 2,.,. 6.58857e-06 0 1 -1 -1 -1 IDO2 50_intron 39,.,. 1,.,. IDO2/non_coding/;IDO2/intron/ 0.0000 0.8270 1.2560 7 recessive HG002 HG002 chr8:40485968:C:CAGGACCAA 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr8:40524846:C:CAAGA 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr8:40524848:G:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr8:40625301:C:A 1,.,. 1.31546e-05 0 2 -1 -1 -1 ZMAT4 50_intron 35,.,. 0.657143,.,. ZMAT4/intron/ 0.0011 0.6069 0.9350 4 dominant HG002 HG002 chr8:40847217:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 ZMAT4 50_intron 34,.,. 0.294118,.,. ZMAT4/intron/;ZMAT4/non_coding/ 0.0011 0.6069 0.9350 4 dominant HG002 HG002 chr8:40936721:GAGGGAGGA:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr8:41099071:AGAGAGT:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr8:41190925:A:AAGG 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.648649,.,. dominant HG002 HG002 chr8:41190927:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.648649,.,. dominant HG002 HG002 chr8:41895332:GTTCA:G 1,.,. -1 -1 -1 -1 -1 -1 ANK1 50_intron 43,.,. 0.465116,.,. ANK1/intron/ 1.0000 0.2369 0.2990 0 Hereditary spherocytosis type 1 0.000 dominant HG002 HG002 chr8:41895337:G:A 1,.,. -1 -1 -1 -1 -1 -1 ANK1 50_intron 43,.,. 0.465116,.,. ANK1/intron/ 1.0000 0.2369 0.2990 0 Hereditary spherocytosis type 1 0.000 dominant HG002 HG002 chr8:42484566:G:A 1,.,. 1.31384e-05 0 2 -1 -1 -1 SLC20A2 50_intron 30,.,. 0.566667,.,. SLC20A2/intron/;SLC20A2/non_coding/ 0.0186 0.4577 0.6440 2 Idiopathic basal ganglia calcification 1 0.000 recessive HG002 HG002 chr8:42546928:G:C 2,.,. -1 -1 -1 -1 -1 -1 SMIM19 50_intron 32,.,. 1,.,. SMIM19/intron/;SMIM19/non_coding/ 0.2417 0.4313 0.8510 3 dominant HG002 HG002 chr8:43046456:C:CGTTGTT 1,.,. -1 -1 -1 -1 -1 -1 AC110275.1;FNTA 50_intron 29,.,. 0.482759,.,. AC110275.1/intron/;FNTA/non_coding/ 0.0016 0.8196 1.4250 7 dominant HG002 HG002 chr8:43181142:A:G 1,.,. -1 -1 -1 -1 -1 -1 HGSNAT 50_intron 21,.,. 0.571429,.,. HGSNAT/intron/ 0.0000 0.7598 1.0000 5 Retinitis pigmentosa 73;Mucopolysaccharidosis, MPS-III-C 0.000 dominant HG002 HG002 chr8:43181148:A:G 1,.,. -1 -1 -1 -1 -1 -1 HGSNAT 50_intron 23,.,. 0.652174,.,. HGSNAT/intron/ 0.0000 0.7598 1.0000 5 Retinitis pigmentosa 73;Mucopolysaccharidosis, MPS-III-C 0.000 dominant HG002 HG002 chr8:43395853:G:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr8:43403303:T:C 1,.,. 8.37135e-05 0 4 -1 -1 -1 31,.,. 0.354839,.,. dominant HG002 HG002 chr8:43797855:A:G 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.48,.,. dominant HG002 HG002 chr8:43829483:G:T 1,.,. -1 -1 -1 0.00140154 0 4 41,.,. 0.560976,.,. dominant HG002 HG002 chr8:43829484:A:T 1,.,. -1 -1 -1 0.00140154 0 4 41,.,. 0.560976,.,. dominant HG002 HG002 chr8:43878359:T:G 1,.,. 6.60319e-06 0 1 -1 -1 -1 35,.,. 0.457143,.,. recessive HG002 HG002 chr8:44231430:T:G 2,.,. -1 -1 -1 0.00455501 2 13 6,.,. 1,.,. recessive HG002 HG002 chr8:44231434:AT:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr8:44231621:A:T 2,.,. -1 -1 -1 0.00350385 2 10 6,.,. 1,.,. recessive HG002 HG002 chr8:44295258:A:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr8:44295267:T:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr8:44556324:C:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr8:44566742:A:G 2,.,. -1 -1 -1 0.00560617 1 16 11,.,. 1,.,. recessive HG002 HG002 chr8:44723358:C:A 2,.,. -1 -1 -1 0.00210231 2 6 6,.,. 1,.,. recessive HG002 HG002 chr8:44991733:A:T 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr8:44991771:C:T 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr8:44991787:A:T 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr8:44991797:C:A 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr8:44991821:A:G 2,.,. -1 -1 -1 -1 -1 -1 114,.,. 1,.,. recessive HG002 HG002 chr8:44991900:C:A 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 1,.,. recessive HG002 HG002 chr8:45019428:G:A 2,.,. -1 -1 -1 0.00315347 1 9 7,.,. 1,.,. recessive HG002 HG002 chr8:45019975:A:T 2,.,. -1 -1 -1 0.00315347 1 9 6,.,. 1,.,. recessive HG002 HG002 chr8:45123446:C:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr8:45314664:G:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr8:45420410:T:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr8:45420897:A:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr8:45421253:C:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr8:45421506:A:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr8:45421558:A:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr8:45421663:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr8:45421703:G:T 2,.,. -1 -1 -1 0.00140154 0 4 7,.,. 1,.,. recessive HG002 HG002 chr8:45421710:A:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr8:45421930:T:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr8:45422112:A:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr8:45422430:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr8:45422787:G:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr8:45431342:T:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr8:45431354:A:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr8:45478825:CTATG:C 2,.,. -1 -1 -1 -1 -1 -1 519,.,. 0.99422,.,. recessive HG002 HG002 chr8:45492338:A:G 2,.,. -1 -1 -1 0.00385424 1 11 263,.,. 0.980989,.,. recessive HG002 HG002 chr8:45678110:G:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr8:45689253:A:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr8:45689330:T:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr8:45689490:C:G 2,.,. -1 -1 -1 0.00315347 3 9 6,.,. 1,.,. recessive HG002 HG002 chr8:45690893:G:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr8:45760455:T:A 2,.,. -1 -1 -1 0.00280308 4 8 39,.,. 1,.,. recessive HG002 HG002 chr8:45782883:T:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr8:45807057:C:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr8:45842148:C:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr8:45847780:T:A 2,.,. -1 -1 -1 -1 -1 -1 148,.,. 0.986486,.,. recessive HG002 HG002 chr8:45847785:G:C 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 1,.,. recessive HG002 HG002 chr8:45853813:T:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr8:45858477:T:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr8:45858482:G:C 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr8:45869433:A:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. dominant HG002 HG002 chr8:45929814:G:A 1,.,. -1 -1 -1 -1 -1 -1 482,.,. 0.273859,.,. dominant HG002 HG002 chr8:45930612:G:T 1,.,. 1.94341e-05 0 1 -1 -1 -1 497,.,. 0.241449,.,. dominant HG002 HG002 chr8:45930632:T:A 1,.,. -1 -1 -1 -1 -1 -1 499,.,. 0.218437,.,. dominant HG002 HG002 chr8:45931068:A:G 1,.,. -1 -1 -1 0.00140154 0 4 494,.,. 0.350202,.,. dominant HG002 HG002 chr8:45931682:G:A 1,.,. 5.68456e-05 1 4 -1 -1 -1 498,.,. 0.2249,.,. dominant HG002 HG002 chr8:45931938:T:C 1,.,. 4.27058e-05 0 3 -1 -1 -1 501,.,. 0.209581,.,. dominant HG002 HG002 chr8:45932480:G:T 1,.,. -1 -1 -1 -1 -1 -1 490,.,. 0.220408,.,. dominant HG002 HG002 chr8:45932573:A:T 1,.,. -1 -1 -1 -1 -1 -1 494,.,. 0.202429,.,. dominant HG002 HG002 chr8:45932998:T:C 1,.,. -1 -1 -1 -1 -1 -1 487,.,. 0.273101,.,. dominant HG002 HG002 chr8:45933550:G:A 1,.,. -1 -1 -1 -1 -1 -1 475,.,. 0.231579,.,. dominant HG002 HG002 chr8:45933948:C:T 1,.,. -1 -1 -1 -1 -1 -1 471,.,. 0.229299,.,. dominant HG002 HG002 chr8:45934348:G:T 1,.,. -1 -1 -1 -1 -1 -1 474,.,. 0.204641,.,. dominant HG002 HG002 chr8:45934458:T:C 1,.,. 6.83317e-05 2 4 -1 -1 -1 475,.,. 0.2,.,. dominant HG002 HG002 chr8:45934866:T:C 1,.,. -1 -1 -1 -1 -1 -1 470,.,. 0.23617,.,. dominant HG002 HG002 chr8:45936673:A:G 1,.,. -1 -1 -1 -1 -1 -1 454,.,. 0.286344,.,. dominant HG002 HG002 chr8:45937610:C:G 1,.,. -1 -1 -1 -1 -1 -1 466,.,. 0.261803,.,. dominant HG002 HG002 chr8:45937686:C:T 1,.,. -1 -1 -1 -1 -1 -1 464,.,. 0.219828,.,. dominant HG002 HG002 chr8:45938076:C:G 1,.,. -1 -1 -1 -1 -1 -1 460,.,. 0.306522,.,. dominant HG002 HG002 chr8:45938542:A:G 1,.,. -1 -1 -1 -1 -1 -1 455,.,. 0.265934,.,. recessive HG002 HG002 chr8:45944775:A:G 2,.,. 0.000154847 1 4 0.00210231 3 6 177,.,. 1,.,. recessive HG002 HG002 chr8:45944875:G:A 2,.,. 7.47608e-05 0 2 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr8:45944910:C:T 2,.,. 0.00362896 1 155 0.00280308 1 8 60,.,. 1,.,. recessive HG002 HG002 chr8:45944936:C:T 2,.,. 6.02216e-05 0 3 0.00140154 2 4 57,.,. 1,.,. recessive HG002 HG002 chr8:45944946:G:A 2,.,. 1.75691e-05 0 1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr8:45945111:C:G 2,.,. 1.38727e-05 0 1 -1 -1 -1 51,.,. 1,.,. dominant HG002 HG002 chr8:45962608:T:C 1,.,. -1 -1 -1 0.00140154 0 4 43,.,. 0.55814,.,. dominant HG002 HG002 chr8:46129411:G:A 1,.,. 1.99428e-05 0 3 -1 -1 -1 21,.,. 0.380952,.,. dominant HG002 HG002 chr8:46197339:C:G 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.5,.,. recessive HG002 HG002 chr8:46228435:TGAGGTGGC:T 2,.,. 8.23723e-05 0 1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr8:46228453:T:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chr8:47472501:A:G 1,.,. 1.97068e-05 0 3 -1 -1 -1 SPIDR 50_intron 42,.,. 0.52381,.,. SPIDR/intron/;SPIDR/non_coding/ 0.0000 0.8028 0.9780 4 Ovarian dysgenesis 9 0.000 dominant HG002 HG002 chr8:48146774:C:T 1,.,. 1.97096e-05 0 3 -1 -1 -1 27,.,. 0.555556,.,. dominant HG002 HG002 chr8:49216699:G:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr8:49756334:C:T 1,.,. 1.97166e-05 0 3 -1 -1 -1 38,.,. 0.5,.,. recessive HG002 HG002 chr8:49763422:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr8:49763423:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr8:49763425:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr8:49893785:ATG:A 2,.,. 1.97975e-05 0 3 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr8:49893788:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr8:49903362:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.684211,.,. dominant HG002 HG002 chr8:50312186:C:G 1,.,. -1 -1 -1 -1 -1 -1 SNTG1 50_intron 51,.,. 0.509804,.,. SNTG1/intron/;SNTG1/non_coding/ 0.0312 0.4506 0.6380 2 recessive HG002 HG002 chr8:50425246:CAGCAGGA:C 2,.,. -1 -1 -1 -1 -1 -1 SNTG1 50_intron 40,.,. 1,.,. SNTG1/intron/;SNTG1/non_coding/ 0.0312 0.4506 0.6380 2 recessive HG002 HG002 chr8:50425254:G:C 2,.,. -1 -1 -1 -1 -1 -1 SNTG1 50_intron 40,.,. 1,.,. SNTG1/intron/;SNTG1/non_coding/ 0.0312 0.4506 0.6380 2 dominant HG002 HG002 chr8:50606634:A:ATGCATATT 1,.,. -1 -1 -1 -1 -1 -1 SNTG1 50_intron 40,.,. 0.6,.,. SNTG1/intron/ 0.0312 0.4506 0.6380 2 dominant HG002 HG002 chr8:50606635:C:T 1,.,. -1 -1 -1 -1 -1 -1 SNTG1 50_intron 39,.,. 0.589744,.,. SNTG1/intron/ 0.0312 0.4506 0.6380 2 dominant HG002 HG002 chr8:50701747:C:CCTT 1,.,. -1 -1 -1 -1 -1 -1 SNTG1 50_intron 44,.,. 0.477273,.,. SNTG1/intron/ 0.0312 0.4506 0.6380 2 dominant HG002 HG002 chr8:50987127:T:C 1,.,. 2.62867e-05 0 4 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr8:51324355:C:CAGTTTTGCAT 1,.,. -1 -1 -1 -1 -1 -1 PXDNL 50_intron 34,.,. 0.470588,.,. PXDNL/intron/;PXDNL/non_coding/ 0.0000 0.9567 1.1330 6 dominant HG002 HG002 chr8:51324358:T:A 1,.,. -1 -1 -1 -1 -1 -1 PXDNL 50_intron 34,.,. 0.470588,.,. PXDNL/intron/;PXDNL/non_coding/ 0.0000 0.9567 1.1330 6 dominant HG002 HG002 chr8:52493629:GTTGACC:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr8:52493636:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr8:52599244:C:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.553191,.,. dominant HG002 HG002 chr8:52740250:CCCG:C 1,.,. -1 -1 -1 -1 -1 -1 RB1CC1 50_intron 46,.,. 0.413043,.,. RB1CC1/intron/ 1.0000 0.2204 0.2930 0 Familial cancer of breast 0.000 dominant HG002 HG002 chr8:52740254:A:G 1,.,. -1 -1 -1 -1 -1 -1 RB1CC1 50_intron 46,.,. 0.413043,.,. RB1CC1/intron/ 1.0000 0.2204 0.2930 0 Familial cancer of breast 0.000 dominant HG002 HG002 chr8:52789069:A:T 1,.,. 1.90469e-05 0 2 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr8:52789073:A:G 1,.,. 1.9027e-05 0 2 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr8:53117800:G:GGTGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.326087,.,. recessive HG002 HG002 chr8:53203137:G:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr8:53203138:G:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr8:53203141:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr8:53203142:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr8:53253013:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chr8:53293120:G:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.553191,.,. dominant HG002 HG002 chr8:53293125:A:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.541667,.,. dominant HG002 HG002 chr8:53409648:T:C 1,.,. 4.3033e-05 0 1 -1 -1 -1 39,.,. 0.358974,.,. dominant HG002 HG002 chr8:54157300:C:T 1,.,. 6.66027e-06 0 1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr8:54646206:A:G 1,.,. -1 -1 -1 -1 -1 -1 RP1 50_intron 56,.,. 0.392857,.,. RP1/intron/ 0.0000 0.9763 1.4470 8 Retinitis pigmentosa 1 0.000 dominant HG002 HG002 chr8:54873199:TCCTTTAAAAATG:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.59375,.,. dominant HG002 HG002 chr8:54873213:T:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.59375,.,. dominant HG002 HG002 chr8:55103728:GA:G 1,.,. 1.32718e-05 0 2 -1 -1 -1 XKR4 50_intron 29,.,. 0.448276,.,. XKR4/intron/ 1.0000 0.2295 0.3720 0 dominant HG002 HG002 chr8:55207650:G:A 1,.,. -1 -1 -1 -1 -1 -1 XKR4 50_intron 34,.,. 0.411765,.,. XKR4/intron/ 1.0000 0.2295 0.3720 0 dominant HG002 HG002 chr8:55359882:G:A 1,.,. -1 -1 -1 -1 -1 -1 XKR4 50_intron 43,.,. 0.581395,.,. XKR4/intron/ 1.0000 0.2295 0.3720 0 dominant HG002 HG002 chr8:55578527:A:AAAACCTTAAAG 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr8:55578532:A:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr8:55733092:T:TTTTG 1,.,. -1 -1 -1 -1 -1 -1 TMEM68 50_intron 36,.,. 0.361111,.,. TMEM68/intron/ 0.0001 0.6486 0.9420 4 recessive HG002 HG002 chr8:55909987:GTGTGTCTTT:G 2,.,. -1 -1 -1 -1 -1 -1 LYN 50_intron 31,.,. 1,.,. LYN/intron/ 1.0000 0.1617 0.2820 0 Autoinflammatory disease, systemic, with vasculitis dominant HG002 HG002 chr8:56387759:G:T 1,.,. -1 -1 -1 -1 -1 -1 SDR16C6P 53_non_coding 49,.,. 0.530612,.,. SDR16C6P/non_coding/ dominant HG002 HG002 chr8:56650337:G:A 1,.,. 2.6303e-05 0 4 -1 -1 -1 43,.,. 0.581395,.,. dominant HG002 HG002 chr8:56885396:GACCAAA:G 1,.,. 1.31584e-05 0 2 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr8:56885403:T:G 1,.,. 0.000312305 0 1 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr8:56885405:C:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr8:56987235:A:G 1,.,. 2.62816e-05 0 4 -1 -1 -1 BPNT2 50_intron 44,.,. 0.409091,.,. BPNT2/intron/ 0.7884 0.3296 0.6190 2 Chondrodysplasia with joint dislocations, gPAPP type 0.000 dominant HG002 HG002 chr8:56995896:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr8:57487963:G:A 1,.,. 2.62985e-05 0 4 -1 -1 -1 52,.,. 0.576923,.,. dominant HG002 HG002 chr8:57523752:T:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr8:57617072:T:G 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.58,.,. dominant HG002 HG002 chr8:58260515:TTA:T 1,.,. 2.22777e-05 0 3 -1 -1 -1 AC092819.1 53_non_coding 44,.,. 0.409091,.,. AC092819.1/non_coding/ dominant HG002 HG002 chr8:58330676:A:AATTTT 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr8:58330680:A:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.575758,.,. dominant HG002 HG002 chr8:58437071:A:G 1,.,. 1.31435e-05 0 2 -1 -1 -1 UBXN2B 50_intron 43,.,. 0.325581,.,. UBXN2B/intron/ 0.0006 0.6398 0.9850 5 dominant HG002 HG002 chr8:58621230:C:T 1,.,. -1 -1 -1 -1 -1 -1 NSMAF 50_intron 51,.,. 0.490196,.,. NSMAF/intron/;NSMAF/non_coding/ 0.0000 0.6331 0.7860 3 dominant HG002 HG002 chr8:59169413:A:G 1,.,. -1 -1 -1 0.00140154 0 4 54,.,. 0.62963,.,. dominant HG002 HG002 chr8:59673813:AAATGCCGTTTCT:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr8:59673827:G:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr8:59824465:T:C 1,.,. 1.97623e-05 0 3 -1 -1 -1 46,.,. 0.543478,.,. dominant HG002 HG002 chr8:60003303:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. recessive HG002 HG002 chr8:60548333:G:T 2,.,. -1 -1 -1 -1 -1 -1 RAB2A 50_intron 27,.,. 1,.,. RAB2A/intron/;RAB2A/non_coding/ 0.2291 0.4478 1.0240 5 recessive HG002 HG002 chr8:60548342:G:C 2,.,. -1 -1 -1 -1 -1 -1 RAB2A 50_intron 27,.,. 1,.,. RAB2A/intron/;RAB2A/non_coding/ 0.2291 0.4478 1.0240 5 dominant HG002 HG002 chr8:60552005:T:TTTTGTTTGTTTG 1,.,. -1 -1 -1 -1 -1 -1 RAB2A 50_intron 36,.,. 0.305556,.,. RAB2A/intron/;RAB2A/non_coding/ 0.2291 0.4478 1.0240 5 dominant HG002 HG002 chr8:60552012:T:G 1,.,. -1 -1 -1 -1 -1 -1 RAB2A 50_intron 37,.,. 0.324324,.,. RAB2A/intron/;RAB2A/non_coding/ 0.2291 0.4478 1.0240 5 dominant HG002 HG002 chr8:60570181:C:T 1,.,. 1.97208e-05 0 3 -1 -1 -1 RAB2A 50_intron 41,.,. 0.487805,.,. RAB2A/intron/;RAB2A/non_coding/ 0.2291 0.4478 1.0240 5 dominant HG002 HG002 chr8:61074373:TATAAGTATATGTGTA:T 1,.,. -1 -1 -1 -1 -1 -1 CLVS1 50_intron 41,.,. 0.365854,.,. CLVS1/intron/ 0.9912 0.2622 0.4730 1 dominant HG002 HG002 chr8:61626078:A:G 1,.,. -1 -1 -1 -1 -1 -1 ASPH 36_3_prime_utr 45,.,. 0.466667,.,. ASPH/3_prime_utr/ENST00000356457;ASPH/3_prime_utr/ENST00000445642;ASPH/3_prime_utr/ENST00000519234;ASPH/3_prime_utr/ENST00000518068;ASPH/3_prime_utr/ENST00000517903;ASPH/3_prime_utr/ENST00000517847;ASPH/3_prime_utr/ENST00000522835 0.0000 0.8334 1.0110 5 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 0.000 recessive HG002 HG002 chr8:61843847:GGA:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr8:61843850:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr8:62009925:TTCAAAAAAAAAAAAA:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr8:62009941:A:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr8:62105380:A:ATCT 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.5,.,. dominant HG002 HG002 chr8:62105381:C:T 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.5,.,. dominant HG002 HG002 chr8:62186204:A:T 1,.,. 6.64658e-05 0 3 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr8:62186205:C:A 1,.,. 6.72812e-06 0 1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr8:62186206:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.581395,.,. dominant HG002 HG002 chr8:62211540:CAT:C 1,.,. 2.56568e-05 0 3 0.000700771 0 2 37,.,. 0.567568,.,. dominant HG002 HG002 chr8:62212473:A:ACATAG 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr8:62212474:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr8:62212475:G:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr8:62212570:T:TATATGATATATATCTATATATCATATATATGG 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. recessive HG002 HG002 chr8:62368563:G:T 2,.,. 0.00292398 0 1 -1 -1 -1 NKAIN3 50_intron 40,.,. 1,.,. NKAIN3/intron/;NKAIN3/non_coding/ 0.0069 0.7766 1.4480 8 dominant HG002 HG002 chr8:62735282:T:C 1,.,. -1 -1 -1 -1 -1 -1 NKAIN3 50_intron 44,.,. 0.568182,.,. NKAIN3/intron/;NKAIN3/non_coding/ 0.0069 0.7766 1.4480 8 dominant HG002 HG002 chr8:63058720:AAAATCT:A 1,.,. -1 -1 -1 -1 -1 -1 TTPA 53_non_coding 48,.,. 0.416667,.,. TTPA/non_coding/ 0.0000 0.8780 1.2760 7 Familial isolated deficiency of vitamin E 0.000 dominant HG002 HG002 chr8:63058730:T:C 1,.,. -1 -1 -1 -1 -1 -1 TTPA 53_non_coding 48,.,. 0.4375,.,. TTPA/non_coding/ 0.0000 0.8780 1.2760 7 Familial isolated deficiency of vitamin E 0.000 dominant HG002 HG002 chr8:63426028:C:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr8:64232650:G:C 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.431034,.,. dominant HG002 HG002 chr8:64948356:A:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr8:65821396:A:AAACT 1,.,. -1 -1 -1 -1 -1 -1 PDE7A 50_intron 45,.,. 0.444444,.,. PDE7A/intron/;PDE7A/non_coding/ 0.0019 0.7298 1.2380 7 dominant HG002 HG002 chr8:66059908:C:T 1,.,. 1.97065e-05 0 3 -1 -1 -1 DNAJC5B 50_intron 38,.,. 0.552632,.,. DNAJC5B/intron/;DNAJC5B/non_coding/ 0.0000 0.9571 1.3560 7 dominant HG002 HG002 chr8:66066990:A:ATGTTT 1,.,. -1 -1 -1 -1 -1 -1 DNAJC5B 50_intron 46,.,. 0.478261,.,. DNAJC5B/intron/;DNAJC5B/non_coding/ 0.0000 0.9571 1.3560 7 dominant HG002 HG002 chr8:66066991:C:A 1,.,. -1 -1 -1 -1 -1 -1 DNAJC5B 50_intron 45,.,. 0.488889,.,. DNAJC5B/intron/;DNAJC5B/non_coding/ 0.0000 0.9571 1.3560 7 dominant HG002 HG002 chr8:66066994:AAAGGCTG:A 1,.,. -1 -1 -1 -1 -1 -1 DNAJC5B 50_intron 45,.,. 0.488889,.,. DNAJC5B/intron/;DNAJC5B/non_coding/ 0.0000 0.9571 1.3560 7 dominant HG002 HG002 chr8:66067002:T:G 1,.,. -1 -1 -1 -1 -1 -1 DNAJC5B 50_intron 45,.,. 0.488889,.,. DNAJC5B/intron/;DNAJC5B/non_coding/ 0.0000 0.9571 1.3560 7 dominant HG002 HG002 chr8:66095401:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 DNAJC5B 50_intron 36,.,. 0.611111,.,. DNAJC5B/intron/;DNAJC5B/non_coding/ 0.0000 0.9571 1.3560 7 dominant HG002 HG002 chr8:66135606:C:T 1,.,. -1 -1 -1 -1 -1 -1 TRIM55 50_intron 38,.,. 0.526316,.,. TRIM55/intron/ 0.0000 0.8046 1.0210 5 dominant HG002 HG002 chr8:66135607:CTTTTATCCCGCACTCT:C 1,.,. -1 -1 -1 -1 -1 -1 TRIM55 50_intron 38,.,. 0.526316,.,. TRIM55/intron/ 0.0000 0.8046 1.0210 5 dominant HG002 HG002 chr8:66135624:T:G 1,.,. -1 -1 -1 -1 -1 -1 TRIM55 50_intron 38,.,. 0.526316,.,. TRIM55/intron/ 0.0000 0.8046 1.0210 5 dominant HG002 HG002 chr8:66457770:G:C 1,.,. -1 -1 -1 -1 -1 -1 AC009879.3;ADHFE1 50_intron 42,.,. 0.666667,.,. AC009879.3/intron/;ADHFE1/intron/;ADHFE1/non_coding/ 0.0000 0.7227 0.9660 4 dominant HG002 HG002 chr8:66457771:T:TGTTAC 1,.,. -1 -1 -1 -1 -1 -1 AC009879.3;ADHFE1 50_intron 42,.,. 0.642857,.,. AC009879.3/intron/;ADHFE1/intron/;ADHFE1/non_coding/ 0.0000 0.7227 0.9660 4 dominant HG002 HG002 chr8:66457772:A:G 1,.,. 6.58683e-06 0 1 -1 -1 -1 AC009879.3;ADHFE1 50_intron 43,.,. 0.674419,.,. AC009879.3/intron/;ADHFE1/intron/;ADHFE1/non_coding/ 0.0000 0.7227 0.9660 4 dominant HG002 HG002 chr8:66466553:A:ATACTG 1,.,. 1.31917e-05 0 2 -1 -1 -1 AC009879.3;ADHFE1 50_intron 46,.,. 0.543478,.,. AC009879.3/intron/;ADHFE1/intron/;ADHFE1/non_coding/ 0.0000 0.7227 0.9660 4 dominant HG002 HG002 chr8:66466555:C:CT 1,.,. 6.59291e-06 0 1 -1 -1 -1 AC009879.3;ADHFE1 50_intron 45,.,. 0.555556,.,. AC009879.3/intron/;ADHFE1/intron/;ADHFE1/non_coding/ 0.0000 0.7227 0.9660 4 dominant HG002 HG002 chr8:66466556:A:G 1,.,. 6.58961e-06 0 1 -1 -1 -1 AC009879.3;ADHFE1 50_intron 45,.,. 0.555556,.,. AC009879.3/intron/;ADHFE1/intron/;ADHFE1/non_coding/ 0.0000 0.7227 0.9660 4 dominant HG002 HG002 chr8:67222225:G:GTGTA 1,.,. -1 -1 -1 -1 -1 -1 ARFGEF1 50_intron 40,.,. 0.45,.,. ARFGEF1/intron/ 1.0000 0.1777 0.2360 0 Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0.000 dominant HG002 HG002 chr8:67849600:AGATAGATAGATGGATG:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr8:67965507:A:ATATG 1,.,. 6.31054e-05 0 4 -1 -1 -1 PREX2 50_intron 34,.,. 0.529412,.,. PREX2/intron/;PREX2/non_coding/ 0.0000 0.5203 0.6510 2 dominant HG002 HG002 chr8:67965515:G:A 1,.,. -1 -1 -1 -1 -1 -1 PREX2 50_intron 34,.,. 0.558824,.,. PREX2/intron/;PREX2/non_coding/ 0.0000 0.5203 0.6510 2 dominant HG002 HG002 chr8:67974418:C:A 1,.,. -1 -1 -1 -1 -1 -1 PREX2 50_intron 37,.,. 0.621622,.,. PREX2/intron/;PREX2/non_coding/ 0.0000 0.5203 0.6510 2 dominant HG002 HG002 chr8:67974419:A:T 1,.,. -1 -1 -1 -1 -1 -1 PREX2 50_intron 37,.,. 0.621622,.,. PREX2/intron/;PREX2/non_coding/ 0.0000 0.5203 0.6510 2 dominant HG002 HG002 chr8:67974420:T:A 1,.,. -1 -1 -1 -1 -1 -1 PREX2 50_intron 37,.,. 0.621622,.,. PREX2/intron/;PREX2/non_coding/ 0.0000 0.5203 0.6510 2 dominant HG002 HG002 chr8:67976588:T:G 1,.,. -1 -1 -1 -1 -1 -1 PREX2 50_intron 34,.,. 0.588235,.,. PREX2/intron/;PREX2/non_coding/ 0.0000 0.5203 0.6510 2 dominant HG002 HG002 chr8:68089230:GTTA:G 1,.,. -1 -1 -1 -1 -1 -1 PREX2 50_intron 46,.,. 0.543478,.,. PREX2/intron/;PREX2/non_coding/ 0.0000 0.5203 0.6510 2 dominant HG002 HG002 chr8:68089234:T:G 1,.,. -1 -1 -1 -1 -1 -1 PREX2 50_intron 47,.,. 0.531915,.,. PREX2/intron/;PREX2/non_coding/ 0.0000 0.5203 0.6510 2 dominant HG002 HG002 chr8:68089235:T:A 1,.,. -1 -1 -1 -1 -1 -1 PREX2 50_intron 47,.,. 0.531915,.,. PREX2/intron/;PREX2/non_coding/ 0.0000 0.5203 0.6510 2 recessive HG002 HG002 chr8:68603521:ATATCTATCTATCTATCTATC:A 2,.,. 0.000405538 0 57 0.0024527 0 7 C8orf34 50_intron 43,.,. 1,.,. C8orf34/intron/;C8orf34/non_coding/ 0.0000 0.8390 1.1040 6 dominant HG002 HG002 chr8:68794491:ATATATATATATATAT:A 1,.,. -1 -1 -1 -1 -1 -1 C8orf34 50_intron 36,.,. 0.388889,.,. C8orf34/intron/ 0.0000 0.8390 1.1040 6 dominant HG002 HG002 chr8:69090455:G:T 1,.,. -1 -1 -1 0.000700771 0 2 43,.,. 0.418605,.,. dominant HG002 HG002 chr8:69090772:CTGCTAAAAAGCG:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr8:69090785:G:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. recessive HG002 HG002 chr8:69222520:G:GTTTAAC 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr8:69222521:A:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr8:69640186:G:A 2,.,. -1 -1 -1 0.000700771 0 2 SULF1 50_intron 35,.,. 1,.,. SULF1/intron/;SULF1/non_coding/ 0.9961 0.3564 0.4710 1 dominant HG002 HG002 chr8:69826193:G:A 1,.,. -1 -1 -1 -1 -1 -1 SLCO5A1 50_intron 44,.,. 0.5,.,. SLCO5A1/intron/;SLCO5A1/non_coding/ 0.0000 0.6497 0.8310 3 dominant HG002 HG002 chr8:69963706:C:CACACACACACACAT 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr8:69992563:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. recessive HG002 HG002 chr8:70443228:GGT:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr8:70443231:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr8:70678158:A:T 1,.,. -1 -1 -1 -1 -1 -1 XKR9 50_intron 42,.,. 0.52381,.,. XKR9/intron/;XKR9/non_coding/ 0.0000 0.9765 1.3120 7 dominant HG002 HG002 chr8:70729720:A:G 1,.,. 1.97094e-05 0 3 -1 -1 -1 XKR9 50_intron 39,.,. 0.384615,.,. XKR9/intron/;XKR9/non_coding/ 0.0000 0.9765 1.3120 7 dominant HG002 HG002 chr8:70755899:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 XKR9 53_non_coding 45,.,. 0.4,.,. XKR9/non_coding/ 0.0000 0.9765 1.3120 7 dominant HG002 HG002 chr8:70755903:A:T 1,.,. -1 -1 -1 -1 -1 -1 XKR9 53_non_coding 45,.,. 0.4,.,. XKR9/non_coding/ 0.0000 0.9765 1.3120 7 dominant HG002 HG002 chr8:70755904:G:A 1,.,. 1.37099e-05 0 1 -1 -1 -1 XKR9 53_non_coding 45,.,. 0.4,.,. XKR9/non_coding/ 0.0000 0.9765 1.3120 7 dominant HG002 HG002 chr8:70888071:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. dominant HG002 HG002 chr8:71137597:T:G 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.442308,.,. dominant HG002 HG002 chr8:71907952:T:C 1,.,. 3.32458e-05 0 4 0.000700771 0 2 36,.,. 0.416667,.,. recessive HG002 HG002 chr8:72055191:AACAGAATAT:A 2,.,. -1 -1 -1 -1 -1 -1 TRPA1 50_intron 44,.,. 1,.,. TRPA1/intron/;TRPA1/non_coding/ 0.0000 0.8830 1.0630 5 Familial episodic pain syndrome with predominantly upper body involvement 0.000 recessive HG002 HG002 chr8:72055201:T:C 2,.,. -1 -1 -1 -1 -1 -1 TRPA1 50_intron 43,.,. 1,.,. TRPA1/intron/;TRPA1/non_coding/ 0.0000 0.8830 1.0630 5 Familial episodic pain syndrome with predominantly upper body involvement 0.000 dominant HG002 HG002 chr8:72197465:C:T 1,.,. 1.3147e-05 0 2 -1 -1 -1 51,.,. 0.411765,.,. dominant HG002 HG002 chr8:72249866:AATAATAATAAT:A 1,.,. 0.000724638 0 3 -1 -1 -1 AC022905.1 53_non_coding 17,.,. 0.764706,.,. AC022905.1/non_coding/ dominant HG002 HG002 chr8:72267780:G:A 1,.,. 2.62975e-05 0 4 -1 -1 -1 43,.,. 0.395349,.,. dominant HG002 HG002 chr8:72366900:ACGCTGTATG:A 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.403509,.,. dominant HG002 HG002 chr8:72366911:C:A 1,.,. 1.02895e-05 0 1 -1 -1 -1 57,.,. 0.403509,.,. dominant HG002 HG002 chr8:72939768:G:GTGTGTGTATGTGTT 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.575,.,. dominant HG002 HG002 chr8:73134609:T:G 1,.,. 2.62881e-05 0 4 -1 -1 -1 40,.,. 0.575,.,. recessive HG002 HG002 chr8:73149575:T:G 2,.,. -1 -1 -1 0.00175193 0 5 28,.,. 1,.,. dominant HG002 HG002 chr8:73174413:C:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.666667,.,. recessive HG002 HG002 chr8:73193378:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr8:73193379:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr8:73306664:G:A 1,.,. 2.62822e-05 0 4 -1 -1 -1 RDH10 50_intron 35,.,. 0.342857,.,. RDH10/intron/ 0.0045 0.5959 0.9650 4 dominant HG002 HG002 chr8:73687364:ATATAATT:A 1,.,. -1 -1 -1 -1 -1 -1 STAU2 50_intron 40,.,. 0.425,.,. STAU2/intron/;STAU2/non_coding/ 0.9936 0.3229 0.4790 1 dominant HG002 HG002 chr8:73933279:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr8:74405952:A:C 1,.,. 2.66425e-05 0 4 -1 -1 -1 GDAP1 50_intron 46,.,. 0.456522,.,. GDAP1/intron/ 0.0002 0.6419 0.9630 4 Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 0.000 dominant HG002 HG002 chr8:74487347:AT:A 1,.,. 2.62874e-05 0 4 -1 -1 -1 GDAP1 50_intron 58,.,. 0.448276,.,. GDAP1/intron/ 0.0002 0.6419 0.9630 4 Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 0.000 dominant HG002 HG002 chr8:74790469:G:A 1,.,. -1 -1 -1 0.00105116 0 3 43,.,. 0.55814,.,. dominant HG002 HG002 chr8:75096826:G:GCATGCCCA 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr8:75096827:A:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.4375,.,. dominant HG002 HG002 chr8:75096829:C:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr8:75144981:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr8:75144982:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr8:75144983:T:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr8:75171808:T:A 1,.,. 1.9707e-05 0 3 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr8:75673382:C:CTCTT 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr8:75673386:C:T 1,.,. 6.58207e-06 0 1 -1 -1 -1 47,.,. 0.553191,.,. dominant HG002 HG002 chr8:75812071:A:G 1,.,. 1.97202e-05 0 3 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr8:75862120:TTTATTAGCA:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.461538,.,. dominant HG002 HG002 chr8:75862130:G:C 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.461538,.,. dominant HG002 HG002 chr8:75862131:C:G 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.461538,.,. dominant HG002 HG002 chr8:75986425:TGCATAG:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.423077,.,. dominant HG002 HG002 chr8:76252993:TCCAGCCTAGGC:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr8:76253005:A:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr8:77025553:A:G 1,.,. 1.97213e-05 0 3 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr8:77026615:C:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr8:77860038:G:A 1,.,. 2.63238e-05 0 4 -1 -1 -1 54,.,. 0.648148,.,. dominant HG002 HG002 chr8:77980380:A:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. recessive HG002 HG002 chr8:78162934:C:CACACACAT 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr8:78162944:T:C 2,.,. 2.06472e-05 0 3 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr8:78185315:C:A 1,.,. 1.97236e-05 0 3 -1 -1 -1 41,.,. 0.658537,.,. dominant HG002 HG002 chr8:78185316:C:G 1,.,. 1.97213e-05 0 3 -1 -1 -1 41,.,. 0.658537,.,. recessive HG002 HG002 chr8:78357560:G:A 2,.,. 1.18754e-05 0 1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr8:78676134:AAAAAC:A 1,.,. -1 -1 -1 -1 -1 -1 ZC2HC1A 50_intron 46,.,. 0.391304,.,. ZC2HC1A/intron/;ZC2HC1A/non_coding/ 0.0000 0.7384 1.0950 5 dominant HG002 HG002 chr8:78676144:T:A 1,.,. -1 -1 -1 -1 -1 -1 ZC2HC1A 50_intron 38,.,. 0.447368,.,. ZC2HC1A/intron/;ZC2HC1A/non_coding/ 0.0000 0.7384 1.0950 5 recessive HG002 HG002 chr8:78687739:T:C 2,.,. 0.000982318 4 26 -1 -1 -1 ZC2HC1A 50_intron 30,.,. 1,.,. ZC2HC1A/intron/;ZC2HC1A/non_coding/ 0.0000 0.7384 1.0950 5 recessive HG002 HG002 chr8:78687766:G:T 2,.,. -1 -1 -1 -1 -1 -1 ZC2HC1A 50_intron 29,.,. 1,.,. ZC2HC1A/intron/;ZC2HC1A/non_coding/ 0.0000 0.7384 1.0950 5 dominant HG002 HG002 chr8:78771252:A:C 1,.,. -1 -1 -1 -1 -1 -1 IL7 50_intron 41,.,. 0.634146,.,. IL7/intron/ 0.4880 0.0000 1.5170 8 Epidermodysplasia verruciformis, susceptibility to, 5 0.000 dominant HG002 HG002 chr8:78810894:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr8:78977092:C:T 1,.,. 1.97379e-05 0 3 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr8:78979061:G:A 1,.,. 1.97832e-05 0 3 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr8:79381235:A:G 1,.,. 1.97114e-05 0 3 -1 -1 -1 48,.,. 0.541667,.,. dominant HG002 HG002 chr8:79670369:TCGCG:T 1,.,. 2.20872e-05 0 2 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr8:79751470:C:A 1,.,. 2.62878e-05 0 4 -1 -1 -1 51,.,. 0.529412,.,. recessive HG002 HG002 chr8:79928807:A:G 2,.,. -1 -1 -1 -1 -1 -1 MRPS28;AC036214.3 50_intron 40,.,. 1,.,. MRPS28/intron/;AC036214.3/intron/ 0.0000 1.0647 1.6430 8 Combined oxidative phosphorylation deficiency 47 0.000 dominant HG002 HG002 chr8:79997122:C:T 1,.,. 2.63196e-05 0 4 -1 -1 -1 MRPS28;AC036214.3 50_intron 45,.,. 0.355556,.,. MRPS28/intron/;AC036214.3/intron/;MRPS28/non_coding/ 0.0000 1.0647 1.6430 8 Combined oxidative phosphorylation deficiency 47 0.000 recessive HG002 HG002 chr8:80112755:A:C 2,.,. 1.9761e-05 0 3 -1 -1 -1 TPD52 50_intron 37,.,. 1,.,. TPD52/intron/;TPD52/non_coding/ 0.0089 0.5304 0.8290 3 dominant HG002 HG002 chr8:80189020:C:A 1,.,. 2.62995e-05 0 4 -1 -1 -1 TPD52 53_non_coding 33,.,. 0.454545,.,. TPD52/non_coding/ 0.0089 0.5304 0.8290 3 dominant HG002 HG002 chr8:80302125:C:T 1,.,. 2.62764e-05 0 4 -1 -1 -1 27,.,. 0.592593,.,. recessive HG002 HG002 chr8:80959113:T:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr8:80959114:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr8:80959115:AACAGAG:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr8:81352529:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr8:81713599:T:C 1,.,. 1.97285e-05 0 3 -1 -1 -1 ZFAND1 50_intron 40,.,. 0.6,.,. ZFAND1/non_coding/;ZFAND1/intron/ 0.0000 1.0423 1.4070 7 dominant HG002 HG002 chr8:81873524:TGCCAC:T 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.568965,.,. dominant HG002 HG002 chr8:81873530:C:A 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.568965,.,. dominant HG002 HG002 chr8:82060536:G:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.52,.,. dominant HG002 HG002 chr8:82155455:C:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.604651,.,. dominant HG002 HG002 chr8:82351499:T:TTCTGAAAAG 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr8:82351510:G:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr8:82852206:T:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr8:83140169:G:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. recessive HG002 HG002 chr8:83338979:AACCATAAATTGTC:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr8:83338993:A:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr8:83338994:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr8:83580700:C:T 1,.,. 6.56927e-06 0 1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr8:83755658:T:C 1,.,. 6.74946e-06 0 1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr8:83766349:G:GACAGAGACACAC 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.272727,.,. dominant HG002 HG002 chr8:83790889:TTTATATATATA:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.404255,.,. dominant HG002 HG002 chr8:83790901:T:A 1,.,. 1.37832e-05 0 1 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr8:84840525:C:A 1,.,. 2.6286e-05 0 4 -1 -1 -1 RALYL 50_intron 38,.,. 0.552632,.,. RALYL/intron/ 0.0116 0.6100 1.0650 5 dominant HG002 HG002 chr8:84967740:G:A 1,.,. 2.63165e-05 0 4 -1 -1 -1 44,.,. 0.590909,.,. dominant HG002 HG002 chr8:85278123:G:T 1,.,. -1 -1 -1 -1 -1 -1 CA13 50_intron 31,.,. 0.451613,.,. CA13/intron/ 0.0060 0.5472 0.8550 3 dominant HG002 HG002 chr8:85567777:TATAC:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr8:85943250:TTC:T 1,.,. 2.62905e-05 0 4 -1 -1 -1 50,.,. 0.44,.,. dominant HG002 HG002 chr8:86183928:G:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr8:86183929:C:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr8:86183930:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr8:86720833:TATGTATACAC:T 1,.,. -1 -1 -1 -1 -1 -1 CNGB3 50_intron 40,.,. 0.45,.,. CNGB3/intron/;CNGB3/non_coding/ 0.0000 0.8515 1.0440 5 Achromatopsia 3 0.000 dominant HG002 HG002 chr8:86753631:C:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr8:86805719:T:C 1,.,. -1 -1 -1 0.000700771 0 2 50,.,. 0.5,.,. dominant HG002 HG002 chr8:87110722:G:T 1,.,. -1 -1 -1 -1 -1 -1 CNBD1 50_intron 47,.,. 0.404255,.,. CNBD1/intron/;CNBD1/non_coding/ 0.0000 1.1756 1.7800 8 dominant HG002 HG002 chr8:87137120:T:A 1,.,. -1 -1 -1 0.000700771 0 2 CNBD1 50_intron 39,.,. 0.435897,.,. CNBD1/intron/;CNBD1/non_coding/ 0.0000 1.1756 1.7800 8 dominant HG002 HG002 chr8:87258436:C:T 1,.,. -1 -1 -1 -1 -1 -1 CNBD1 50_intron 38,.,. 0.578947,.,. CNBD1/intron/;CNBD1/non_coding/ 0.0000 1.1756 1.7800 8 recessive HG002 HG002 chr8:87296620:C:CACGT 2,.,. -1 -1 -1 -1 -1 -1 CNBD1 50_intron 54,.,. 0.981481,.,. CNBD1/intron/ 0.0000 1.1756 1.7800 8 dominant HG002 HG002 chr8:87340052:G:A 1,.,. 2.62954e-05 0 4 -1 -1 -1 CNBD1 50_intron 31,.,. 0.387097,.,. CNBD1/intron/ 0.0000 1.1756 1.7800 8 dominant HG002 HG002 chr8:87380718:C:T 1,.,. 1.31669e-05 0 2 -1 -1 -1 CNBD1 50_intron 42,.,. 0.428571,.,. CNBD1/intron/ 0.0000 1.1756 1.7800 8 dominant HG002 HG002 chr8:87428489:T:A 1,.,. -1 -1 -1 -1 -1 -1 CNBD1 50_intron 42,.,. 0.333333,.,. CNBD1/intron/ 0.0000 1.1756 1.7800 8 dominant HG002 HG002 chr8:87533122:CA:C 1,.,. 2.63772e-05 0 4 -1 -1 -1 CNBD1 50_intron 35,.,. 0.542857,.,. CNBD1/intron/ 0.0000 1.1756 1.7800 8 dominant HG002 HG002 chr8:87852671:T:C 1,.,. 1.97498e-05 0 3 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr8:87856273:G:A 1,.,. 1.97215e-05 0 3 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr8:87856283:T:C 1,.,. 1.97068e-05 0 3 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr8:87985578:A:C 1,.,. 1.9714e-05 0 3 -1 -1 -1 45,.,. 0.355556,.,. dominant HG002 HG002 chr8:88031760:C:G 1,.,. 1.97174e-05 0 3 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr8:88209675:CTCTCTATG:C 1,.,. -1 -1 -1 -1 -1 -1 MMP16 50_intron 35,.,. 0.542857,.,. MMP16/intron/;MMP16/non_coding/ 1.0000 0.1760 0.2990 0 dominant HG002 HG002 chr8:88230553:A:G 1,.,. 3.6243e-05 0 4 -1 -1 -1 MMP16 50_intron 53,.,. 0.490566,.,. MMP16/intron/;MMP16/non_coding/ 1.0000 0.1760 0.2990 0 recessive HG002 HG002 chr8:89008819:A:ATATGTG 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr8:89048295:T:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.382979,.,. dominant HG002 HG002 chr8:89080235:T:C 1,.,. 2.62646e-05 0 4 0.000700771 0 2 46,.,. 0.434783,.,. dominant HG002 HG002 chr8:89099211:A:G 1,.,. 1.97109e-05 0 3 -1 -1 -1 51,.,. 0.607843,.,. dominant HG002 HG002 chr8:89326018:A:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.543478,.,. dominant HG002 HG002 chr8:89363438:A:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.408163,.,. dominant HG002 HG002 chr8:89364166:G:C 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.431373,.,. dominant HG002 HG002 chr8:89376446:A:G 1,.,. 6.57047e-06 0 1 -1 -1 -1 51,.,. 0.431373,.,. dominant HG002 HG002 chr8:89617544:G:T 1,.,. 6.58579e-06 0 1 -1 -1 -1 51,.,. 0.45098,.,. dominant HG002 HG002 chr8:89617545:A:C 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.45098,.,. recessive HG002 HG002 chr8:89641606:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr8:90408827:A:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr8:90408829:T:TTCTAGAGTA 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr8:90408831:A:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr8:90694524:G:A 1,.,. 1.3147e-05 0 2 -1 -1 -1 TMEM64 50_intron 45,.,. 0.622222,.,. TMEM64/intron/;TMEM64/non_coding/ 0.0000 0.9221 1.3530 7 dominant HG002 HG002 chr8:90756533:A:G 1,.,. -1 -1 -1 -1 -1 -1 TMEM64 50_intron 38,.,. 0.526316,.,. TMEM64/intron/;TMEM64/non_coding/ 0.0000 0.9221 1.3530 7 dominant HG002 HG002 chr8:90832304:C:A 1,.,. -1 -1 -1 -1 -1 -1 NECAB1 50_intron 45,.,. 0.577778,.,. NECAB1/intron/;NECAB1/non_coding/ 0.0000 0.7632 1.1590 6 dominant HG002 HG002 chr8:90902417:A:G 1,.,. 6.57177e-06 0 1 -1 -1 -1 NECAB1 50_intron 43,.,. 0.488372,.,. NECAB1/intron/;NECAB1/non_coding/ 0.0000 0.7632 1.1590 6 dominant HG002 HG002 chr8:91012175:G:A 1,.,. 6.58831e-06 0 1 -1 -1 -1 PIP4P2 50_intron 65,.,. 0.461538,.,. PIP4P2/intron/ 0.0021 0.5518 0.8280 3 dominant HG002 HG002 chr8:91040415:C:CCACCACCAT 1,.,. -1 -1 -1 -1 -1 -1 PIP4P2 50_intron 50,.,. 0.38,.,. PIP4P2/intron/ 0.0021 0.5518 0.8280 3 recessive HG002 HG002 chr8:91218353:C:CACTAAGAAGTG 2,.,. -1 -1 -1 -1 -1 -1 LRRC69 50_intron 38,.,. 1,.,. LRRC69/intron/ 0.0000 1.0606 1.5010 8 recessive HG002 HG002 chr8:91218355:A:G 2,.,. -1 -1 -1 -1 -1 -1 LRRC69 50_intron 38,.,. 1,.,. LRRC69/intron/ 0.0000 1.0606 1.5010 8 recessive HG002 HG002 chr8:91218359:A:AGAAAT 2,.,. -1 -1 -1 -1 -1 -1 LRRC69 50_intron 38,.,. 1,.,. LRRC69/intron/ 0.0000 1.0606 1.5010 8 recessive HG002 HG002 chr8:91218360:T:A 2,.,. -1 -1 -1 -1 -1 -1 LRRC69 50_intron 38,.,. 1,.,. LRRC69/intron/ 0.0000 1.0606 1.5010 8 dominant HG002 HG002 chr8:91698532:T:C 1,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.423729,.,. dominant HG002 HG002 chr8:91798975:G:C 1,.,. -1 -1 -1 0.00105116 0 3 47,.,. 0.680851,.,. dominant HG002 HG002 chr8:91887594:C:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. dominant HG002 HG002 chr8:92280034:A:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr8:92317381:A:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr8:92586796:G:GTGTGTGTGTGTGTT 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.32,.,. dominant HG002 HG002 chr8:92751776:T:C 1,.,. 1.98415e-05 0 3 -1 -1 -1 32,.,. 0.65625,.,. dominant HG002 HG002 chr8:93024555:A:AATG 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.519231,.,. dominant HG002 HG002 chr8:93024557:G:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.519231,.,. dominant HG002 HG002 chr8:93154947:G:A 1,.,. 1.31489e-05 0 2 -1 -1 -1 55,.,. 0.509091,.,. dominant HG002 HG002 chr8:93366598:G:T 1,.,. 1.31477e-05 0 2 -1 -1 -1 39,.,. 0.282051,.,. dominant HG002 HG002 chr8:93446627:C:G 1,.,. 1.31484e-05 0 2 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr8:94086957:A:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr8:94186781:T:A 1,.,. 2.62733e-05 0 4 -1 -1 -1 CDH17 50_intron 42,.,. 0.428571,.,. CDH17/intron/ 0.0000 0.7583 0.9600 4 dominant HG002 HG002 chr8:94226272:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. recessive HG002 HG002 chr8:94266029:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr8:94413837:TTTC:T 1,.,. -1 -1 -1 -1 -1 -1 RAD54B;FSBP 50_intron 42,.,. 0.380952,.,. RAD54B/intron/;FSBP/intron/ 0.0000;;0.0000 0.8009;;0.7086 0.9830;;1.0510 4;;5 Colorectal cancer;Lymphoma, non-Hodgkin, familial 0.000 dominant HG002 HG002 chr8:94457819:G:A 1,.,. 1.97104e-05 0 3 -1 -1 -1 RAD54B 50_intron 45,.,. 0.644444,.,. RAD54B/intron/ 0.0000 0.8009 0.9830 4 Colorectal cancer;Lymphoma, non-Hodgkin, familial 0.000 dominant HG002 HG002 chr8:94580302:G:GTCTTGTCT 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.577778,.,. dominant HG002 HG002 chr8:94959537:T:TTTTG 1,.,. -1 -1 -1 -1 -1 -1 NDUFAF6 50_intron 39,.,. 0.358974,.,. NDUFAF6/intron/ 0.0000 1.1907 1.5660 8 Mitochondrial complex 1 deficiency, nuclear type 17;Fanconi renotubular syndrome 5 0.000 dominant HG002 HG002 chr8:94959539:G:T 1,.,. -1 -1 -1 -1 -1 -1 NDUFAF6 50_intron 38,.,. 0.526316,.,. NDUFAF6/intron/ 0.0000 1.1907 1.5660 8 Mitochondrial complex 1 deficiency, nuclear type 17;Fanconi renotubular syndrome 5 0.000 dominant HG002 HG002 chr8:95078660:A:AATATAT 1,.,. -1 -1 -1 -1 -1 -1 NDUFAF6 53_non_coding 36,.,. 0.222222,.,. NDUFAF6/non_coding/ 0.0000 1.1907 1.5660 8 Mitochondrial complex 1 deficiency, nuclear type 17;Fanconi renotubular syndrome 5 0.000 dominant HG002 HG002 chr8:95080090:ATTTTTTGTAGTGTATTTTTTGTAGTGAT:A 1,.,. 1.32718e-05 0 1 -1 -1 -1 NDUFAF6 53_non_coding 35,.,. 0.514286,.,. NDUFAF6/non_coding/ 0.0000 1.1907 1.5660 8 Mitochondrial complex 1 deficiency, nuclear type 17;Fanconi renotubular syndrome 5 0.000 dominant HG002 HG002 chr8:95366068:A:G 1,.,. 1.31415e-05 0 2 -1 -1 -1 47,.,. 0.361702,.,. dominant HG002 HG002 chr8:95458365:A:G 1,.,. 1.3157e-05 0 2 -1 -1 -1 53,.,. 0.471698,.,. dominant HG002 HG002 chr8:95640661:C:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.510204,.,. dominant HG002 HG002 chr8:95671892:AATATATATAT:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr8:95688938:G:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.6,.,. recessive HG002 HG002 chr8:95738555:T:TAAATAAATA 2,.,. 0.00292456 3 440 0.00140154 0 4 24,.,. 1,.,. dominant HG002 HG002 chr8:95776468:T:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.333333,.,. dominant HG002 HG002 chr8:95776469:A:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.333333,.,. dominant HG002 HG002 chr8:95776470:T:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.333333,.,. recessive HG002 HG002 chr8:95786822:A:G 2,.,. -1 -1 -1 0.00385424 0 11 45,.,. 1,.,. dominant HG002 HG002 chr8:95926268:AAATTGTTGTCTGATTAAATTGTTGTCTG:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr8:95926297:A:G 1,.,. 2.7115e-05 0 1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr8:95926299:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr8:95926300:A:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.365854,.,. dominant HG002 HG002 chr8:96047388:A:C 1,.,. 6.57168e-06 0 1 -1 -1 -1 44,.,. 0.636364,.,. dominant HG002 HG002 chr8:96146703:CACACAGAGAGAG:C 1,.,. -1 -1 -1 -1 -1 -1 GDF6 50_intron 29,.,. 0.586207,.,. GDF6/intron/ 0.9996 0.1494 0.3420 0 Leber congenital amaurosis 17;Isolated microphthalmia 4;Klippel-Feil syndrome 1, autosomal dominant;Multiple synostoses syndrome 4;Microphthalmia, isolated, with coloboma 6 0.000 recessive HG002 HG002 chr8:96614092:G:GAA 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr8:96614093:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr8:96614094:T:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chr8:96781292:A:G 1,.,. -1 -1 -1 -1 -1 -1 CPQ 50_intron 40,.,. 0.525,.,. CPQ/intron/;CPQ/non_coding/ 0.0000 0.7983 1.0770 5 dominant HG002 HG002 chr8:97104564:C:T 1,.,. 1.97138e-05 0 3 -1 -1 -1 CPQ 50_intron 39,.,. 0.384615,.,. CPQ/intron/ 0.0000 0.7983 1.0770 5 dominant HG002 HG002 chr8:97516615:AAAAATAAT:A 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.509434,.,. dominant HG002 HG002 chr8:97675942:T:C 1,.,. -1 -1 -1 -1 -1 -1 MTDH 50_intron 30,.,. 0.4,.,. MTDH/intron/ 0.9201 0.3475 0.5350 1 dominant HG002 HG002 chr8:97685018:A:C 1,.,. 1.97091e-05 0 3 -1 -1 -1 MTDH 50_intron 30,.,. 0.533333,.,. MTDH/intron/ 0.9201 0.3475 0.5350 1 dominant HG002 HG002 chr8:97798024:C:CATTAGCTGA 1,.,. -1 -1 -1 -1 -1 -1 LAPTM4B 50_intron 37,.,. 0.594595,.,. LAPTM4B/intron/ 0.0000 1.0847 1.6490 8 dominant HG002 HG002 chr8:97798027:A:T 1,.,. -1 -1 -1 -1 -1 -1 LAPTM4B 50_intron 37,.,. 0.594595,.,. LAPTM4B/intron/ 0.0000 1.0847 1.6490 8 dominant HG002 HG002 chr8:97823352:TTTTG:T 1,.,. -1 -1 -1 -1 -1 -1 LAPTM4B 50_intron 36,.,. 0.472222,.,. LAPTM4B/intron/ 0.0000 1.0847 1.6490 8 dominant HG002 HG002 chr8:97823358:T:G 1,.,. -1 -1 -1 -1 -1 -1 LAPTM4B 50_intron 37,.,. 0.513514,.,. LAPTM4B/intron/ 0.0000 1.0847 1.6490 8 dominant HG002 HG002 chr8:97832690:T:C 1,.,. 9.35541e-05 0 4 -1 -1 -1 LAPTM4B 50_intron 29,.,. 0.413793,.,. LAPTM4B/intron/ 0.0000 1.0847 1.6490 8 dominant HG002 HG002 chr8:98034154:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 MATN2;RPL30 50_intron 35,.,. 0.371429,.,. MATN2/intron/;RPL30/non_coding/;MATN2/non_coding/ 0.0000;;0.9976 0.6543;;0.0000 0.8100;;0.2220 3;;0 dominant HG002 HG002 chr8:98034155:C:T 1,.,. -1 -1 -1 -1 -1 -1 MATN2;RPL30 50_intron 34,.,. 0.529412,.,. MATN2/intron/;RPL30/non_coding/;MATN2/non_coding/ 0.0000;;0.9976 0.6543;;0.0000 0.8100;;0.2220 3;;0 dominant HG002 HG002 chr8:98217346:T:TGTGA 1,.,. -1 -1 -1 -1 -1 -1 NIPAL2 50_intron 46,.,. 0.434783,.,. NIPAL2/intron/;NIPAL2/non_coding/ 0.0001 0.7002 1.0500 5 dominant HG002 HG002 chr8:98217347:A:G 1,.,. 6.58094e-06 0 1 -1 -1 -1 NIPAL2 50_intron 45,.,. 0.422222,.,. NIPAL2/intron/;NIPAL2/non_coding/ 0.0001 0.7002 1.0500 5 dominant HG002 HG002 chr8:98355910:T:C 1,.,. 2.62698e-05 0 4 -1 -1 -1 43,.,. 0.627907,.,. dominant HG002 HG002 chr8:99049393:AGACT:A 1,.,. -1 -1 -1 -1 -1 -1 VPS13B 50_intron 37,.,. 0.405405,.,. VPS13B/intron/ 0.0000 0.6410 0.7080 2 Cohen syndrome 0.000 dominant HG002 HG002 chr8:99049398:C:A 1,.,. -1 -1 -1 -1 -1 -1 VPS13B 50_intron 37,.,. 0.405405,.,. VPS13B/intron/ 0.0000 0.6410 0.7080 2 Cohen syndrome 0.000 dominant HG002 HG002 chr8:99145587:G:GGAA 1,.,. -1 -1 -1 -1 -1 -1 VPS13B 50_intron 44,.,. 0.522727,.,. VPS13B/intron/ 0.0000 0.6410 0.7080 2 Cohen syndrome 0.000 dominant HG002 HG002 chr8:99145590:G:A 1,.,. -1 -1 -1 -1 -1 -1 VPS13B 50_intron 45,.,. 0.533333,.,. VPS13B/intron/ 0.0000 0.6410 0.7080 2 Cohen syndrome 0.000 dominant HG002 HG002 chr8:99145592:C:CAAACTATA 1,.,. -1 -1 -1 -1 -1 -1 VPS13B 50_intron 44,.,. 0.522727,.,. VPS13B/intron/ 0.0000 0.6410 0.7080 2 Cohen syndrome 0.000 dominant HG002 HG002 chr8:99670246:GTAGAAAATGAGGAA:G 1,.,. -1 -1 -1 -1 -1 -1 VPS13B 50_intron 53,.,. 0.471698,.,. VPS13B/intron/ 0.0000 0.6410 0.7080 2 Cohen syndrome 0.000 dominant HG002 HG002 chr8:99670265:T:A 1,.,. -1 -1 -1 -1 -1 -1 VPS13B 50_intron 52,.,. 0.5,.,. VPS13B/intron/ 0.0000 0.6410 0.7080 2 Cohen syndrome 0.000 dominant HG002 HG002 chr8:100245483:C:T 1,.,. -1 -1 -1 0.000700771 0 2 SPAG1 53_non_coding 36,.,. 0.444444,.,. SPAG1/non_coding/ 0.0000 0.8273 1.0840 5 Primary ciliary dyskinesia 28 0.000 dominant HG002 HG002 chr8:102042713:A:AGAGCCAGAG 1,.,. -1 -1 -1 -1 -1 -1 NCALD 50_intron 45,.,. 0.511111,.,. NCALD/intron/;NCALD/non_coding/ 0.0915 0.4844 0.8740 4 dominant HG002 HG002 chr8:102042716:C:G 1,.,. 6.66853e-06 0 1 -1 -1 -1 NCALD 50_intron 47,.,. 0.510638,.,. NCALD/intron/;NCALD/non_coding/ 0.0915 0.4844 0.8740 4 dominant HG002 HG002 chr8:102471154:T:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr8:102606203:A:AAAGGAAGG 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. recessive HG002 HG002 chr8:103110723:TGGTA:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. dominant HG002 HG002 chr8:103384027:GTGTATA:G 1,.,. 0.000121546 0 3 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr8:103414677:AAC:A 1,.,. -1 -1 -1 -1 -1 -1 SLC25A32 50_intron 47,.,. 0.468085,.,. SLC25A32/intron/ 0.0000 0.7828 1.1090 6 Exercise intolerance, riboflavin-responsive 0.000 dominant HG002 HG002 chr8:103414680:G:C 1,.,. -1 -1 -1 0.00105116 1 3 SLC25A32 50_intron 45,.,. 0.444444,.,. SLC25A32/intron/ 0.0000 0.7828 1.1090 6 Exercise intolerance, riboflavin-responsive 0.000 dominant HG002 HG002 chr8:103756446:T:G 1,.,. -1 -1 -1 -1 -1 -1 RIMS2 50_intron 40,.,. 0.3,.,. RIMS2/intron/ 1.0000 0.2808 0.3950 0 Cone-rod synaptic disorder syndrome, congenital nonprogressive 0.000 dominant HG002 HG002 chr8:103876871:T:C 1,.,. -1 -1 -1 0.00140154 0 4 RIMS2 50_intron 58,.,. 0.413793,.,. RIMS2/intron/ 1.0000 0.2808 0.3950 0 Cone-rod synaptic disorder syndrome, congenital nonprogressive 0.000 dominant HG002 HG002 chr8:104487039:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. dominant HG002 HG002 chr8:104548015:G:A 1,.,. 1.13317e-05 0 1 -1 -1 -1 LRP12 50_intron 39,.,. 0.358974,.,. LRP12/intron/;LRP12/non_coding/ 1.0000 0.1861 0.2910 0 Oculopharyngodistal myopathy 1;Amyotrophic lateral sclerosis 28 0.000 dominant HG002 HG002 chr8:105896385:C:T 1,.,. -1 -1 -1 -1 -1 -1 ZFPM2-AS1 53_non_coding 44,.,. 0.454545,.,. ZFPM2-AS1/non_coding/ dominant HG002 HG002 chr8:105905516:T:C 1,.,. 6.57091e-06 0 1 -1 -1 -1 ZFPM2-AS1 53_non_coding 45,.,. 0.444444,.,. ZFPM2-AS1/non_coding/ dominant HG002 HG002 chr8:106483737:C:A 1,.,. 1.31681e-05 0 2 -1 -1 -1 OXR1 50_intron 49,.,. 0.489796,.,. OXR1/intron/ 0.9906 0.2912 0.4820 1 Congenital cerebellar hypoplasia 0.000 dominant HG002 HG002 chr8:106622455:ACACACAC:A 1,.,. 3.08318e-05 0 4 -1 -1 -1 OXR1 50_intron 49,.,. 0.346939,.,. OXR1/intron/ 0.9906 0.2912 0.4820 1 Congenital cerebellar hypoplasia 0.000 recessive HG002 HG002 chr8:106677185:A:AAATGAGGAGTGTTTTT 2,.,. -1 -1 -1 -1 -1 -1 OXR1 50_intron 37,.,. 1,.,. OXR1/intron/ 0.9906 0.2912 0.4820 1 Congenital cerebellar hypoplasia 0.000 recessive HG002 HG002 chr8:106677187:T:G 2,.,. -1 -1 -1 -1 -1 -1 OXR1 50_intron 39,.,. 1,.,. OXR1/intron/ 0.9906 0.2912 0.4820 1 Congenital cerebellar hypoplasia 0.000 dominant HG002 HG002 chr8:106808431:G:GGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr8:106860513:T:A 1,.,. -1 -1 -1 0.00140154 0 4 31,.,. 0.322581,.,. dominant HG002 HG002 chr8:106860514:T:A 1,.,. -1 -1 -1 0.00140154 0 4 31,.,. 0.322581,.,. dominant HG002 HG002 chr8:106860515:T:A 1,.,. -1 -1 -1 0.00140154 0 4 30,.,. 0.333333,.,. recessive HG002 HG002 chr8:106875560:A:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr8:106875561:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr8:106875562:T:G 2,.,. 0.000208548 0 15 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr8:106875566:G:A 2,.,. -1 -1 -1 0.00140154 0 4 47,.,. 1,.,. dominant HG002 HG002 chr8:107086834:T:A 1,.,. -1 -1 -1 0.00140154 0 4 40,.,. 0.575,.,. dominant HG002 HG002 chr8:107223731:G:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr8:107999367:A:C 1,.,. -1 -1 -1 -1 -1 -1 RSPO2 50_intron 41,.,. 0.585366,.,. RSPO2/intron/;RSPO2/non_coding/ 0.2904 0.4123 0.6680 2 Humerofemoral hypoplasia with radiotibial ray deficiency;Tetraamelia syndrome 2 0.000 dominant HG002 HG002 chr8:108031420:T:C 1,.,. 1.31303e-05 0 2 -1 -1 -1 RSPO2 50_intron 48,.,. 0.5,.,. RSPO2/intron/;RSPO2/non_coding/ 0.2904 0.4123 0.6680 2 Humerofemoral hypoplasia with radiotibial ray deficiency;Tetraamelia syndrome 2 0.000 dominant HG002 HG002 chr8:108097831:A:AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.208333,.,. dominant HG002 HG002 chr8:109163106:A:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr8:109167910:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr8:109167911:G:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr8:109167913:T:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr8:109195829:AC:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr8:109385879:A:G 1,.,. 1.97138e-05 0 3 -1 -1 -1 PKHD1L1 50_intron 48,.,. 0.416667,.,. PKHD1L1/intron/ 0.0000 0.9578 1.0540 5 Autosomal recessive nonsyndromic hearing loss 124 dominant HG002 HG002 chr8:109492561:A:G 1,.,. 1.97517e-05 0 3 -1 -1 -1 PKHD1L1 50_intron 46,.,. 0.652174,.,. PKHD1L1/intron/ 0.0000 0.9578 1.0540 5 Autosomal recessive nonsyndromic hearing loss 124 dominant HG002 HG002 chr8:109942130:G:A 1,.,. 2.62847e-05 0 4 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr8:109973049:C:T 1,.,. -1 -1 -1 -1 -1 -1 KCNV1 50_intron 41,.,. 0.585366,.,. KCNV1/intron/ 1.0000 0.0562 0.1770 0 dominant HG002 HG002 chr8:110019238:A:ATATATGTGTATATATATACACATG 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr8:110487836:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr8:110855667:A:AATT 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.387755,.,. dominant HG002 HG002 chr8:110996054:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr8:111108074:A:ACATG 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.619048,.,. dominant HG002 HG002 chr8:111108075:T:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.604651,.,. dominant HG002 HG002 chr8:111383598:C:T 1,.,. 1.31555e-05 0 2 -1 -1 -1 56,.,. 0.446429,.,. dominant HG002 HG002 chr8:111489146:A:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.583333,.,. dominant HG002 HG002 chr8:112179560:AATATATATATGTATAT:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr8:112294465:T:G 1,.,. -1 -1 -1 -1 -1 -1 CSMD3 50_intron 53,.,. 0.45283,.,. CSMD3/intron/ 0.9725 0.3933 0.4640 1 dominant HG002 HG002 chr8:112411008:A:G 1,.,. 1.03218e-05 0 1 -1 -1 -1 CSMD3 50_intron 46,.,. 0.5,.,. CSMD3/intron/ 0.9725 0.3933 0.4640 1 dominant HG002 HG002 chr8:112411009:T:A 1,.,. -1 -1 -1 -1 -1 -1 CSMD3 50_intron 46,.,. 0.5,.,. CSMD3/intron/ 0.9725 0.3933 0.4640 1 dominant HG002 HG002 chr8:112470686:ACAAAATGATAC:A 1,.,. -1 -1 -1 -1 -1 -1 CSMD3 50_intron 56,.,. 0.553571,.,. CSMD3/intron/ 0.9725 0.3933 0.4640 1 dominant HG002 HG002 chr8:112470701:A:G 1,.,. -1 -1 -1 -1 -1 -1 CSMD3 50_intron 55,.,. 0.563636,.,. CSMD3/intron/ 0.9725 0.3933 0.4640 1 dominant HG002 HG002 chr8:113270285:GCGATCATTAAAAAGT:G 1,.,. 2.52258e-05 0 2 -1 -1 -1 CSMD3 50_intron 33,.,. 0.575758,.,. CSMD3/intron/;CSMD3/non_coding/ 0.9725 0.3933 0.4640 1 dominant HG002 HG002 chr8:113508133:T:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr8:113656976:G:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr8:113708972:TATTGATC:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr8:113708980:T:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr8:113828664:AAATTAATT:A 1,.,. 6.77433e-06 0 1 -1 -1 -1 49,.,. 0.591837,.,. dominant HG002 HG002 chr8:114281181:G:T 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.333333,.,. dominant HG002 HG002 chr8:114281328:G:A 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.36,.,. dominant HG002 HG002 chr8:114392772:C:CT 1,.,. 2.64141e-05 0 4 0.000700771 0 2 45,.,. 0.377778,.,. dominant HG002 HG002 chr8:114783587:CCATT:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr8:114783592:A:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr8:114983589:GACTGACT:G 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.62,.,. dominant HG002 HG002 chr8:114983597:A:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.62,.,. dominant HG002 HG002 chr8:114986135:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.613636,.,. dominant HG002 HG002 chr8:114986137:A:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.613636,.,. recessive HG002 HG002 chr8:115518071:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 TRPS1 50_intron 38,.,. 1,.,. TRPS1/intron/ 1.0000 0.0576 0.1140 0 Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome, type III 0.000 recessive HG002 HG002 chr8:115518073:C:A 2,.,. -1 -1 -1 -1 -1 -1 TRPS1 50_intron 38,.,. 1,.,. TRPS1/intron/ 1.0000 0.0576 0.1140 0 Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome, type III 0.000 recessive HG002 HG002 chr8:115736204:T:G 2,.,. -1 -1 -1 -1 -1 -1 TRPS1 50_intron 43,.,. 1,.,. TRPS1/intron/ 1.0000 0.0576 0.1140 0 Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome, type III 0.000 recessive HG002 HG002 chr8:115736205:G:T 2,.,. -1 -1 -1 -1 -1 -1 TRPS1 50_intron 43,.,. 1,.,. TRPS1/intron/ 1.0000 0.0576 0.1140 0 Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome, type III 0.000 recessive HG002 HG002 chr8:115736206:T:G 2,.,. 3.94337e-05 0 6 -1 -1 -1 TRPS1 50_intron 43,.,. 1,.,. TRPS1/intron/ 1.0000 0.0576 0.1140 0 Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome, type III 0.000 recessive HG002 HG002 chr8:115768390:T:C 2,.,. -1 -1 -1 -1 -1 -1 TRPS1 50_intron 15,.,. 1,.,. TRPS1/intron/ 1.0000 0.0576 0.1140 0 Trichorhinophalangeal dysplasia type I;Trichorhinophalangeal syndrome, type III 0.000 dominant HG002 HG002 chr8:116484350:A:T 1,.,. 3.44376e-05 0 2 -1 -1 -1 48,.,. 0.395833,.,. dominant HG002 HG002 chr8:116743795:TATAAACACACAC:T 1,.,. -1 -1 -1 -1 -1 -1 EIF3H 50_intron 36,.,. 0.388889,.,. EIF3H/intron/;EIF3H/non_coding/ 0.0001 0.5722 0.7990 3 recessive HG002 HG002 chr8:116864520:C:CCAAATTGGTGAT 2,.,. 7.69329e-05 0 6 -1 -1 -1 RAD21 50_intron 39,.,. 1,.,. RAD21/intron/;RAD21/non_coding/ 1.0000 0.2102 0.3410 0 De Lange syndrome;Cornelia de Lange syndrome 4;Mungan syndrome 0.000 recessive HG002 HG002 chr8:116864527:T:C 2,.,. 6.58371e-06 0 1 -1 -1 -1 RAD21 50_intron 42,.,. 1,.,. RAD21/intron/;RAD21/non_coding/ 1.0000 0.2102 0.3410 0 De Lange syndrome;Cornelia de Lange syndrome 4;Mungan syndrome 0.000 dominant HG002 HG002 chr8:117429066:T:A 1,.,. 1.31387e-05 0 2 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr8:117506734:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr8:118032120:T:C 1,.,. -1 -1 -1 -1 -1 -1 EXT1 50_intron 38,.,. 0.5,.,. EXT1/intron/ 1.0000 0.2331 0.3390 0 Exostoses, multiple, type 1 0.000 dominant HG002 HG002 chr8:118032122:A:G 1,.,. -1 -1 -1 -1 -1 -1 EXT1 50_intron 38,.,. 0.5,.,. EXT1/intron/ 1.0000 0.2331 0.3390 0 Exostoses, multiple, type 1 0.000 dominant HG002 HG002 chr8:118032123:C:A 1,.,. -1 -1 -1 -1 -1 -1 EXT1 50_intron 38,.,. 0.5,.,. EXT1/intron/ 1.0000 0.2331 0.3390 0 Exostoses, multiple, type 1 0.000 dominant HG002 HG002 chr8:118032124:T:G 1,.,. -1 -1 -1 -1 -1 -1 EXT1 50_intron 38,.,. 0.5,.,. EXT1/intron/ 1.0000 0.2331 0.3390 0 Exostoses, multiple, type 1 0.000 dominant HG002 HG002 chr8:118032125:C:T 1,.,. -1 -1 -1 -1 -1 -1 EXT1 50_intron 38,.,. 0.5,.,. EXT1/intron/ 1.0000 0.2331 0.3390 0 Exostoses, multiple, type 1 0.000 dominant HG002 HG002 chr8:118119247:ATGTTC:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr8:118119254:A:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr8:118405042:A:G 1,.,. 1.31408e-05 0 2 -1 -1 -1 SAMD12 50_intron 49,.,. 0.489796,.,. SAMD12/intron/;SAMD12/non_coding/ 0.0106 0.6174 1.0770 5 Epilepsy, familial adult myoclonic, 1 0.000 recessive HG002 HG002 chr8:118413144:ACGG:A 2,.,. -1 -1 -1 -1 -1 -1 SAMD12 50_intron 55,.,. 1,.,. SAMD12/intron/;SAMD12/non_coding/ 0.0106 0.6174 1.0770 5 Epilepsy, familial adult myoclonic, 1 0.000 recessive HG002 HG002 chr8:118413148:A:G 2,.,. -1 -1 -1 -1 -1 -1 SAMD12 50_intron 55,.,. 0.981818,.,. SAMD12/intron/;SAMD12/non_coding/ 0.0106 0.6174 1.0770 5 Epilepsy, familial adult myoclonic, 1 0.000 dominant HG002 HG002 chr8:118469524:T:A 1,.,. -1 -1 -1 -1 -1 -1 SAMD12 50_intron 27,.,. 0.444444,.,. SAMD12/intron/;SAMD12/non_coding/ 0.0106 0.6174 1.0770 5 Epilepsy, familial adult myoclonic, 1 0.000 dominant HG002 HG002 chr8:118522163:CACACACACACACACAT:C 1,.,. -1 -1 -1 -1 -1 -1 SAMD12 50_intron 45,.,. 0.266667,.,. SAMD12/intron/;SAMD12/non_coding/ 0.0106 0.6174 1.0770 5 Epilepsy, familial adult myoclonic, 1 0.000 dominant HG002 HG002 chr8:119047406:T:C 1,.,. 1.31409e-05 0 2 -1 -1 -1 COLEC10 53_non_coding 37,.,. 0.459459,.,. COLEC10/non_coding/ 0.0054 0.6376 1.0820 5 3MC syndrome 3 0.000 dominant HG002 HG002 chr8:119077259:T:C 1,.,. -1 -1 -1 -1 -1 -1 COLEC10 50_intron 50,.,. 0.38,.,. COLEC10/non_coding/;COLEC10/intron/ 0.0054 0.6376 1.0820 5 3MC syndrome 3 0.000 dominant HG002 HG002 chr8:119176282:A:AGT 1,.,. -1 -1 -1 -1 -1 -1 MAL2 50_intron 37,.,. 0.297297,.,. MAL2/intron/ 0.0000 1.0729 1.6000 8 dominant HG002 HG002 chr8:119250723:C:G 1,.,. 2.63182e-05 0 4 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr8:119462317:G:A 1,.,. 1.97135e-05 0 3 -1 -1 -1 46,.,. 0.434783,.,. dominant HG002 HG002 chr8:119475708:A:G 1,.,. 1.97636e-05 0 3 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr8:119549960:C:T 1,.,. 1.31432e-05 0 2 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr8:119592495:A:AAG 1,.,. 1.32568e-05 0 2 -1 -1 -1 ENPP2 50_intron 33,.,. 0.393939,.,. ENPP2/intron/ 0.0418 0.4472 0.6390 2 dominant HG002 HG002 chr8:119592615:T:TGA 1,.,. -1 -1 -1 -1 -1 -1 ENPP2 50_intron 38,.,. 0.5,.,. ENPP2/intron/ 0.0418 0.4472 0.6390 2 dominant HG002 HG002 chr8:119592616:A:T 1,.,. -1 -1 -1 -1 -1 -1 ENPP2 50_intron 38,.,. 0.5,.,. ENPP2/intron/ 0.0418 0.4472 0.6390 2 dominant HG002 HG002 chr8:119818730:GTCCACACACACA:G 1,.,. -1 -1 -1 -1 -1 -1 TAF2 50_intron 46,.,. 0.543478,.,. TAF2/intron/ 0.0074 0.4361 0.5510 1 Microcephaly-thin corpus callosum-intellectual disability syndrome 0.000 dominant HG002 HG002 chr8:119818744:A:C 1,.,. -1 -1 -1 -1 -1 -1 TAF2 50_intron 44,.,. 0.568182,.,. TAF2/intron/ 0.0074 0.4361 0.5510 1 Microcephaly-thin corpus callosum-intellectual disability syndrome 0.000 dominant HG002 HG002 chr8:120334583:A:AACACAC 1,.,. -1 -1 -1 -1 -1 -1 COL14A1 50_intron 29,.,. 0.448276,.,. COL14A1/intron/ 0.0000 0.5749 0.6730 2 0.000 dominant HG002 HG002 chr8:120506625:GTGC:G 1,.,. -1 -1 -1 -1 -1 -1 MTBP 50_intron 61,.,. 0.442623,.,. MTBP/intron/ 0.0000 0.8064 1.0280 5 dominant HG002 HG002 chr8:120512825:T:A 1,.,. 1.97584e-05 0 3 -1 -1 -1 MTBP 50_intron 65,.,. 0.523077,.,. MTBP/intron/ 0.0000 0.8064 1.0280 5 dominant HG002 HG002 chr8:120662235:A:G 1,.,. 2.62729e-05 0 4 0.000700771 0 2 SNTB1 50_intron 38,.,. 0.578947,.,. SNTB1/intron/;SNTB1/non_coding/ 0.0000 0.7415 0.9870 5 dominant HG002 HG002 chr8:120674691:T:C 1,.,. 1.97096e-05 0 3 -1 -1 -1 SNTB1 50_intron 33,.,. 0.454545,.,. SNTB1/intron/;SNTB1/non_coding/ 0.0000 0.7415 0.9870 5 dominant HG002 HG002 chr8:121229541:A:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.724138,.,. dominant HG002 HG002 chr8:121332394:C:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.66,.,. recessive HG002 HG002 chr8:121688476:G:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr8:121688477:C:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr8:121844627:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr8:122300092:G:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.37931,.,. dominant HG002 HG002 chr8:122990090:CAT:C 1,.,. 3.39691e-05 0 4 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr8:122990097:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr8:123102343:A:AGTGGCATTTGCC 1,.,. -1 -1 -1 -1 -1 -1 TBC1D31 36_3_prime_utr 46,.,. 0.5,.,. TBC1D31/3_prime_utr/ENST00000521914 0.0000 0.7168 0.8800 4 dominant HG002 HG002 chr8:123350343:A:G 1,.,. -1 -1 -1 -1 -1 -1 ATAD2 50_intron 41,.,. 0.536585,.,. ATAD2/intron/;ATAD2/non_coding/ 0.9997 0.3479 0.4490 1 recessive HG002 HG002 chr8:123642113:T:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr8:123861985:G:C 1,.,. -1 -1 -1 0.000700771 0 2 FER1L6 50_intron 31,.,. 0.548387,.,. FER1L6/intron/ 0.0000 0.7365 0.8490 3 dominant HG002 HG002 chr8:124181998:C:T 1,.,. 6.57004e-06 0 1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr8:124302617:A:ATATTTATATATAAATATATATTCTTTTATTTATATATAAATATATATTCTTT 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr8:124482937:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 RNF139 50_intron 45,.,. 0.466667,.,. RNF139/intron/ 0.9857 0.3326 0.4930 1 Nonpapillary renal cell carcinoma 0.000 dominant HG002 HG002 chr8:124622068:G:A 1,.,. -1 -1 -1 -1 -1 -1 MTSS1 50_intron 34,.,. 0.617647,.,. MTSS1/intron/;MTSS1/non_coding/ 1.0000 0.2212 0.3320 0 dominant HG002 HG002 chr8:124797025:GA:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr8:125320260:GGAAGGAA:G 1,.,. -1 -1 -1 -1 -1 -1 NSMCE2 50_intron 34,.,. 0.470588,.,. NSMCE2/intron/ 0.5220 0.2368 1.1130 6 Seckel syndrome 10 0.000 dominant HG002 HG002 chr8:125537709:T:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.675676,.,. dominant HG002 HG002 chr8:125580477:G:GAAGAC 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.357143,.,. dominant HG002 HG002 chr8:125580478:G:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.344828,.,. dominant HG002 HG002 chr8:125625422:GAAGGT:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr8:125625429:T:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr8:125625430:T:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr8:125785997:A:AGAGTTACAATGAGTGTTACTCTGAAGGAGGATGGACTTTAATG 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr8:125849188:T:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.395349,.,. dominant HG002 HG002 chr8:125849190:G:T 1,.,. 4.06769e-05 0 3 -1 -1 -1 43,.,. 0.395349,.,. dominant HG002 HG002 chr8:125849191:T:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. recessive HG002 HG002 chr8:126182327:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr8:126395381:G:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr8:126414373:T:C 2,.,. -1 -1 -1 0.00175193 1 5 18,.,. 1,.,. dominant HG002 HG002 chr8:126844915:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr8:126844916:G:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr8:126844917:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr8:126844918:GTGCTTGTCTGT:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr8:126995194:G:A 1,.,. 6.57255e-06 0 1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr8:127304442:T:G 1,.,. 6.57177e-06 0 1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr8:127316856:G:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.363636,.,. recessive HG002 HG002 chr8:127521875:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr8:127619471:A:ATCTCACCACCACCCCTGGGAACACAGGTCTACCTTCCCCACCAGGAACCATGGGCCAGT 1,.,. -1 -1 -1 0.00140154 0 4 31,.,. 0.354839,.,. recessive HG002 HG002 chr8:127624699:ATATATATATATATG:A 2,.,. 3.08566e-05 0 1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr8:127624718:T:A 2,.,. 0.000308509 0 10 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr8:127633043:C:CTTTTTTTTT 2,.,. -1 -1 -1 0.024527 0 70 18,.,. 1,.,. dominant HG002 HG002 chr8:127749806:T:C 1,.,. 6.56935e-06 0 1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr8:127889026:T:TTCTC 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.21875,.,. dominant HG002 HG002 chr8:128388753:G:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr8:128606666:A:AATAT 1,.,. 1.32654e-05 0 1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr8:128608858:C:CTA 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr8:128608859:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. recessive HG002 HG002 chr8:128826127:C:CCT 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr8:128826128:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr8:128826351:C:CCT 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr8:128826352:T:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr8:128826425:C:CCT 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr8:128826426:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr8:128838043:G:A 1,.,. 6.57289e-06 0 1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr8:128838046:C:G 1,.,. 6.57419e-06 0 1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr8:128843905:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr8:128853547:A:AGTTC 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.5,.,. dominant HG002 HG002 chr8:128853548:C:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.5,.,. dominant HG002 HG002 chr8:129097733:CA:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.377778,.,. recessive HG002 HG002 chr8:129354665:C:CAGT 2,.,. 2.03973e-05 0 1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr8:129354679:A:G 2,.,. 2.63814e-05 0 4 0.000700771 0 2 38,.,. 1,.,. dominant HG002 HG002 chr8:129418395:G:GTGTT 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. recessive HG002 HG002 chr8:129418540:TGA:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr8:129418543:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr8:129573015:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. dominant HG002 HG002 chr8:129671678:GAAAGTTC:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr8:129671686:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. recessive HG002 HG002 chr8:129767528:CAGAGCT:C 2,.,. -1 -1 -1 -1 -1 -1 GSDMC 50_intron 38,.,. 1,.,. GSDMC/intron/ 0.0000 0.8806 1.1500 6 dominant HG002 HG002 chr8:129943090:G:C 1,.,. -1 -1 -1 -1 -1 -1 CYRIB 50_intron 34,.,. 0.558824,.,. CYRIB/non_coding/;CYRIB/intron/ 0.9968 0.1760 0.4030 1 dominant HG002 HG002 chr8:129943091:C:CCCGCCCACCCG 1,.,. -1 -1 -1 -1 -1 -1 CYRIB 50_intron 31,.,. 0.451613,.,. CYRIB/non_coding/;CYRIB/intron/ 0.9968 0.1760 0.4030 1 dominant HG002 HG002 chr8:129987570:T:C 1,.,. 1.89739e-05 0 1 -1 -1 -1 CYRIB 50_intron 31,.,. 0.387097,.,. CYRIB/non_coding/;CYRIB/intron/ 0.9968 0.1760 0.4030 1 dominant HG002 HG002 chr8:130326898:T:G 1,.,. 2.6285e-05 0 4 -1 -1 -1 ASAP1 50_intron 43,.,. 0.55814,.,. ASAP1/intron/;ASAP1/non_coding/ 0.9999 0.3334 0.4390 1 dominant HG002 HG002 chr8:130401041:C:T 1,.,. 1.97733e-05 0 3 -1 -1 -1 ASAP1 50_intron 40,.,. 0.55,.,. ASAP1/intron/;ASAP1/non_coding/ 0.9999 0.3334 0.4390 1 dominant HG002 HG002 chr8:130524343:TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:T 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.736842,.,. dominant HG002 HG002 chr8:130862603:C:T 1,.,. 6.57964e-06 0 1 -1 -1 -1 ADCY8 50_intron 48,.,. 0.458333,.,. ADCY8/intron/ 0.0005 0.4609 0.5860 2 dominant HG002 HG002 chr8:131057134:C:G 1,.,. 2.62881e-05 0 4 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr8:131165478:C:A 1,.,. 2.62892e-05 0 4 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr8:131204700:A:AAAC 1,.,. 0.000136624 0 3 -1 -1 -1 37,.,. 0.324324,.,. dominant HG002 HG002 chr8:131216046:T:TATAC 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr8:131216052:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr8:131216076:T:TATAC 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr8:131216082:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr8:131385292:A:AAAG 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr8:131500275:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr8:131500276:T:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr8:131957977:C:T 1,.,. -1 -1 -1 -1 -1 -1 EFR3A 50_intron 58,.,. 0.465517,.,. EFR3A/intron/ 0.0000 0.7673 0.9670 4 dominant HG002 HG002 chr8:131988179:TCTGTGAAC:T 1,.,. 1.31737e-05 0 2 -1 -1 -1 EFR3A 50_intron 44,.,. 0.613636,.,. EFR3A/intron/;EFR3A/non_coding/ 0.0000 0.7673 0.9670 4 dominant HG002 HG002 chr8:131988189:A:C 1,.,. 2.96191e-05 0 2 -1 -1 -1 EFR3A 50_intron 44,.,. 0.613636,.,. EFR3A/intron/;EFR3A/non_coding/ 0.0000 0.7673 0.9670 4 dominant HG002 HG002 chr8:131988192:TA:T 1,.,. -1 -1 -1 -1 -1 -1 EFR3A 50_intron 45,.,. 0.555556,.,. EFR3A/intron/;EFR3A/non_coding/ 0.0000 0.7673 0.9670 4 dominant HG002 HG002 chr8:132094129:C:T 1,.,. -1 -1 -1 -1 -1 -1 HHLA1 50_intron 38,.,. 0.552632,.,. HHLA1/intron/ 0.0000 0.9555 1.2480 7 recessive HG002 HG002 chr8:132401968:T:TCAGC 2,.,. 6.15422e-05 0 2 -1 -1 -1 KCNQ3 50_intron 20,.,. 1,.,. KCNQ3/intron/;KCNQ3/non_coding/ 0.9988 0.3321 0.4580 1 Seizures, benign familial neonatal, 2 0.000 recessive HG002 HG002 chr8:132401970:G:T 2,.,. -1 -1 -1 -1 -1 -1 KCNQ3 50_intron 20,.,. 1,.,. KCNQ3/intron/;KCNQ3/non_coding/ 0.9988 0.3321 0.4580 1 Seizures, benign familial neonatal, 2 0.000 recessive HG002 HG002 chr8:132620554:C:A 2,.,. 0.000499369 0 76 0.00105116 0 3 LRRC6 50_intron 44,.,. 1,.,. LRRC6/intron/;LRRC6/non_coding/ dominant HG002 HG002 chr8:132809501:A:G 1,.,. 2.62895e-05 0 4 -1 -1 -1 PHF20L1 50_intron 42,.,. 0.428571,.,. PHF20L1/intron/;PHF20L1/non_coding/ 0.2292 0.4186 0.6450 2 recessive HG002 HG002 chr8:132946072:A:C 2,.,. 0.00390625 0 176 0.0024527 0 7 TG 50_intron 36,.,. 1,.,. TG/intron/ 0.0000 0.8050 0.8920 4 Iodotyrosyl coupling defect;Autoimmune thyroid disease, susceptibility to, 3 0.000 dominant HG002 HG002 chr8:133040837:C:T 1,.,. 1.31454e-05 0 2 -1 -1 -1 TG 50_intron 38,.,. 0.473684,.,. TG/intron/ 0.0000 0.8050 0.8920 4 Iodotyrosyl coupling defect;Autoimmune thyroid disease, susceptibility to, 3 0.000 dominant HG002 HG002 chr8:133042978:CCCA:C 1,.,. -1 -1 -1 -1 -1 -1 TG 50_intron 38,.,. 0.5,.,. TG/intron/ 0.0000 0.8050 0.8920 4 Iodotyrosyl coupling defect;Autoimmune thyroid disease, susceptibility to, 3 0.000 dominant HG002 HG002 chr8:133042982:C:A 1,.,. -1 -1 -1 -1 -1 -1 TG 50_intron 38,.,. 0.5,.,. TG/intron/ 0.0000 0.8050 0.8920 4 Iodotyrosyl coupling defect;Autoimmune thyroid disease, susceptibility to, 3 0.000 dominant HG002 HG002 chr8:133082442:C:A 1,.,. -1 -1 -1 -1 -1 -1 TG;SLA 50_intron 33,.,. 0.393939,.,. TG/intron/;SLA/non_coding/ 0.0000;;0.0003 0.8050;;0.6706 0.8920;;1.0330 4;;5 Iodotyrosyl coupling defect;Autoimmune thyroid disease, susceptibility to, 3 0.000 dominant HG002 HG002 chr8:133261069:T:C 1,.,. 6.57091e-06 0 1 -1 -1 -1 NDRG1 50_intron 35,.,. 0.6,.,. NDRG1/intron/;NDRG1/non_coding/ 0.0000 0.5391 0.7240 2 Charcot-Marie-Tooth disease type 4D 0.000 dominant HG002 HG002 chr8:133490371:C:G 1,.,. -1 -1 -1 -1 -1 -1 ST3GAL1 50_intron 34,.,. 0.352941,.,. ST3GAL1/intron/;ST3GAL1/non_coding/ 0.0250 0.4792 0.7280 2 dominant HG002 HG002 chr8:133500500:C:A 1,.,. -1 -1 -1 -1 -1 -1 ST3GAL1 50_intron 30,.,. 0.566667,.,. ST3GAL1/intron/;ST3GAL1/non_coding/ 0.0250 0.4792 0.7280 2 dominant HG002 HG002 chr8:133595320:CTGTACTA:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr8:133595328:T:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr8:133938828:A:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr8:134503947:A:AAC 1,.,. 2.07005e-05 0 2 -1 -1 -1 ZFAT 50_intron 28,.,. 0.392857,.,. ZFAT/intron/;ZFAT/non_coding/ 0.0000 0.5489 0.6790 2 Autoimmune thyroid disease, susceptibility to, 3 0.000 dominant HG002 HG002 chr8:134634493:G:GGAGAAATCT 1,.,. -1 -1 -1 -1 -1 -1 ZFAT 50_intron 47,.,. 0.531915,.,. ZFAT/intron/;ZFAT/non_coding/ 0.0000 0.5489 0.6790 2 Autoimmune thyroid disease, susceptibility to, 3 0.000 dominant HG002 HG002 chr8:134634494:C:G 1,.,. 6.5884e-06 0 1 -1 -1 -1 ZFAT 50_intron 50,.,. 0.56,.,. ZFAT/intron/;ZFAT/non_coding/ 0.0000 0.5489 0.6790 2 Autoimmune thyroid disease, susceptibility to, 3 0.000 recessive HG002 HG002 chr8:134691349:G:GCCTGCA 2,.,. -1 -1 -1 -1 -1 -1 ZFAT 50_intron 32,.,. 1,.,. ZFAT/intron/;ZFAT/non_coding/ 0.0000 0.5489 0.6790 2 Autoimmune thyroid disease, susceptibility to, 3 0.000 recessive HG002 HG002 chr8:134691352:C:G 2,.,. -1 -1 -1 -1 -1 -1 ZFAT 50_intron 32,.,. 1,.,. ZFAT/intron/;ZFAT/non_coding/ 0.0000 0.5489 0.6790 2 Autoimmune thyroid disease, susceptibility to, 3 0.000 recessive HG002 HG002 chr8:134691353:A:T 2,.,. -1 -1 -1 -1 -1 -1 ZFAT 50_intron 32,.,. 1,.,. ZFAT/intron/;ZFAT/non_coding/ 0.0000 0.5489 0.6790 2 Autoimmune thyroid disease, susceptibility to, 3 0.000 recessive HG002 HG002 chr8:135074444:ATTC:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr8:135074448:T:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr8:135078172:A:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.642857,.,. dominant HG002 HG002 chr8:135183485:G:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.622222,.,. dominant HG002 HG002 chr8:135819698:T:TTTGTTG 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr8:135898498:T:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.59375,.,. recessive HG002 HG002 chr8:136074419:A:G 2,.,. 0.00157374 0 126 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr8:136094566:A:G 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.423077,.,. recessive HG002 HG002 chr8:136102281:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr8:136102282:A:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr8:136102283:A:ATCATC 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr8:136594294:AGTAGAGATGTTG:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr8:136594307:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr8:136804594:A:C 2,.,. 0.000831804 0 126 0.000700771 0 2 38,.,. 1,.,. dominant HG002 HG002 chr8:137195297:GATGA:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. recessive HG002 HG002 chr8:137320673:C:CTAAACGTGGATTATAACCTGATCTTGCCAAGAGATCTTCTGTGTCTCCCATCCCCCTCTTGTCAGTCTCCCCATGGTAATGCTGCCAGAGGAGTCTTGATCTCATGACACCTCTTTGTAAAAAGCCTAAA 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr8:137343101:A:G 1,.,. 6.57341e-06 0 1 -1 -1 -1 52,.,. 0.403846,.,. dominant HG002 HG002 chr8:137494383:G:A 1,.,. 1.97402e-05 0 3 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr8:137765303:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr8:137771044:C:CTTGGGTTGGGGGCTTCA 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr8:137771045:A:C 1,.,. 1.3151e-05 0 2 0.000700771 0 2 38,.,. 0.473684,.,. dominant HG002 HG002 chr8:137771244:T:G 1,.,. 6.57419e-06 0 1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr8:138150681:T:A 1,.,. -1 -1 -1 -1 -1 -1 FAM135B 50_intron 31,.,. 0.387097,.,. FAM135B/intron/ 0.9998 0.3338 0.4440 1 recessive HG002 HG002 chr8:138713718:C:G 2,.,. -1 -1 -1 -1 -1 -1 COL22A1 50_intron 30,.,. 1,.,. COL22A1/intron/;COL22A1/non_coding/ 0.0000 0.8831 1.0050 5 recessive HG002 HG002 chr8:138828123:A:ACTCGGGTCCC 2,.,. -1 -1 -1 -1 -1 -1 COL22A1 50_intron 31,.,. 1,.,. COL22A1/intron/ 0.0000 0.8831 1.0050 5 recessive HG002 HG002 chr8:138828124:A:T 2,.,. 6.60842e-06 0 1 -1 -1 -1 COL22A1 50_intron 32,.,. 1,.,. COL22A1/intron/ 0.0000 0.8831 1.0050 5 recessive HG002 HG002 chr8:138828126:T:C 2,.,. 6.60729e-06 0 1 -1 -1 -1 COL22A1 50_intron 32,.,. 1,.,. COL22A1/intron/ 0.0000 0.8831 1.0050 5 dominant HG002 HG002 chr8:139159482:T:TTATA 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. recessive HG002 HG002 chr8:139412292:T:TACAATAGA 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr8:139412294:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr8:139415714:A:AATAT 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr8:139583459:GCTGCCC:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr8:139583468:T:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr8:139660445:A:AATATAT 1,.,. -1 -1 -1 -1 -1 -1 KCNK9 50_intron 25,.,. 0.44,.,. KCNK9/intron/ 0.9809 0.0851 0.4040 1 Birk-Barel syndrome 0.000 dominant HG002 HG002 chr8:139677665:T:TACCTCGAGTCCCAGCCCACCGGGTACCTACAGCTGCAGAGTAAC 1,.,. -1 -1 -1 0.00140154 2 4 KCNK9 50_intron 28,.,. 0.392857,.,. KCNK9/intron/ 0.9809 0.0851 0.4040 1 Birk-Barel syndrome 0.000 dominant HG002 HG002 chr8:140033688:T:G 1,.,. -1 -1 -1 -1 -1 -1 TRAPPC9 50_intron 37,.,. 0.432432,.,. TRAPPC9/intron/;TRAPPC9/non_coding/ 0.0000 0.6508 0.7860 3 Intellectual disability, autosomal recessive 13 0.000 dominant HG002 HG002 chr8:140122019:T:TTCTC 1,.,. -1 -1 -1 -1 -1 -1 TRAPPC9 50_intron 26,.,. 0.423077,.,. TRAPPC9/intron/;TRAPPC9/non_coding/ 0.0000 0.6508 0.7860 3 Intellectual disability, autosomal recessive 13 0.000 dominant HG002 HG002 chr8:141467353:CCCTGGCCCTT:C 1,.,. 2.85671e-05 0 3 -1 -1 -1 MROH5 50_intron 25,.,. 0.56,.,. MROH5/intron/ 0.0004 0.9247 1.5530 8 dominant HG002 HG002 chr8:141511831:C:G 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.45,.,. dominant HG002 HG002 chr8:141713954:A:AGTG 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.52381,.,. dominant HG002 HG002 chr8:141713984:T:G 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.428571,.,. dominant HG002 HG002 chr8:141713993:GGTGATGATGACA:G 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.428571,.,. dominant HG002 HG002 chr8:141813550:C:T 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.352941,.,. dominant HG002 HG002 chr8:141983135:T:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.586207,.,. dominant HG002 HG002 chr8:142082464:C:CACACATCCCAGACACACACCCCAGACACACATCCCAGACACACACCCCAGATACACACCCCAGACACACACACATCCCAGACACACACATATCCCAGACACACACCCCAGGCACACACACATCCCAGACACACACCCCAGACACAG 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.310345,.,. dominant HG002 HG002 chr8:142210132:C:T 1,.,. 1.96912e-05 0 3 -1 -1 -1 26,.,. 0.692308,.,. dominant HG002 HG002 chr8:142210963:AAGGTGGC:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.666667,.,. dominant HG002 HG002 chr8:142210974:AGCTCGGGGGCGGAC:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.666667,.,. dominant HG002 HG002 chr8:142214103:C:T 1,.,. 1.96954e-05 0 3 -1 -1 -1 TSNARE1 50_intron 28,.,. 0.678571,.,. TSNARE1/intron/ 0.0000 0.8136 1.0320 5 dominant HG002 HG002 chr8:142223301:C:CTCATTCACTCACTCAT 1,.,. 5.82208e-05 0 1 -1 -1 -1 TSNARE1 50_intron 24,.,. 0.625,.,. TSNARE1/intron/ 0.0000 0.8136 1.0320 5 dominant HG002 HG002 chr8:142223946:G:GCACCAGCCCTGTCTT 1,.,. -1 -1 -1 -1 -1 -1 TSNARE1 50_intron 26,.,. 0.653846,.,. TSNARE1/intron/ 0.0000 0.8136 1.0320 5 dominant HG002 HG002 chr8:142223948:A:T 1,.,. -1 -1 -1 -1 -1 -1 TSNARE1 50_intron 26,.,. 0.653846,.,. TSNARE1/intron/ 0.0000 0.8136 1.0320 5 dominant HG002 HG002 chr8:142223949:G:A 1,.,. -1 -1 -1 -1 -1 -1 TSNARE1 50_intron 26,.,. 0.653846,.,. TSNARE1/intron/ 0.0000 0.8136 1.0320 5 dominant HG002 HG002 chr8:142223951:G:C 1,.,. -1 -1 -1 -1 -1 -1 TSNARE1 50_intron 26,.,. 0.653846,.,. TSNARE1/intron/ 0.0000 0.8136 1.0320 5 dominant HG002 HG002 chr8:142223954:T:G 1,.,. -1 -1 -1 -1 -1 -1 TSNARE1 50_intron 26,.,. 0.653846,.,. TSNARE1/intron/ 0.0000 0.8136 1.0320 5 dominant HG002 HG002 chr8:142223955:T:G 1,.,. 2.63369e-05 0 4 -1 -1 -1 TSNARE1 50_intron 26,.,. 0.653846,.,. TSNARE1/intron/ 0.0000 0.8136 1.0320 5 dominant HG002 HG002 chr8:142422736:A:AAAC 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.238095,.,. dominant HG002 HG002 chr8:142434917:A:ACT 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.285714,.,. dominant HG002 HG002 chr8:142735655:G:A 1,.,. 6.56875e-06 0 1 -1 -1 -1 THEM6 36_3_prime_utr 22,.,. 0.5,.,. THEM6/3_prime_utr/ENST00000336138;THEM6/3_prime_utr&NMD_transcript/ENST00000520217 0.0000 1.6550 1.9480 9 dominant HG002 HG002 chr8:142841518:T:C 1,.,. 1.31404e-05 0 2 -1 -1 -1 GML 50_intron 32,.,. 0.625,.,. GML/intron/ 0.3464 0.0000 1.8310 9 dominant HG002 HG002 chr8:142844077:A:AAATTATTCAT 1,.,. -1 -1 -1 -1 -1 -1 GML 50_intron 31,.,. 0.516129,.,. GML/intron/ 0.3464 0.0000 1.8310 9 dominant HG002 HG002 chr8:142844079:C:T 1,.,. 1.97496e-05 0 3 -1 -1 -1 GML 50_intron 31,.,. 0.516129,.,. GML/intron/ 0.3464 0.0000 1.8310 9 dominant HG002 HG002 chr8:142913784:T:TCCC 1,.,. 1.31487e-05 0 2 -1 -1 -1 GML 50_intron 23,.,. 0.608696,.,. GML/intron/ 0.3464 0.0000 1.8310 9 dominant HG002 HG002 chr8:142936896:C:G 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.5,.,. dominant HG002 HG002 chr8:142936964:G:C 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.461538,.,. dominant HG002 HG002 chr8:142937535:G:A 1,.,. 1.37944e-05 0 2 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr8:143211651:A:G 1,.,. -1 -1 -1 -1 -1 -1 9,.,. 0.555556,.,. dominant HG002 HG002 chr8:143211652:G:T 1,.,. -1 -1 -1 -1 -1 -1 9,.,. 0.555556,.,. dominant HG002 HG002 chr8:143211653:T:G 1,.,. 0.0013624 0 1 -1 -1 -1 8,.,. 0.5,.,. recessive HG002 HG002 chr8:143253174:C:T 2,.,. 4.43971e-05 0 2 0.000700771 0 2 ZFP41 36_3_prime_utr 20,.,. 1,.,. ZFP41/3_prime_utr/ENST00000520584 0.0007 0.8367 1.4150 7 dominant HG002 HG002 chr8:143311916:C:G 1,.,. 1.31315e-05 0 2 -1 -1 -1 TOP1MT 50_intron 17,.,. 0.647059,.,. TOP1MT/intron/ 0.0000 1.0490 1.2660 7 dominant HG002 HG002 chr8:143312552:G:A 1,.,. -1 -1 -1 -1 -1 -1 TOP1MT 50_intron 18,.,. 0.277778,.,. TOP1MT/intron/ 0.0000 1.0490 1.2660 7 recessive HG002 HG002 chr8:143342639:CTCTAT:C 2,.,. 0.000236705 1 6 0.00385424 2 11 TOP1MT 50_intron 36,.,. 1,.,. TOP1MT/intron/ 0.0000 1.0490 1.2660 7 dominant HG002 HG002 chr8:143458701:G:A 1,.,. -1 -1 -1 0.00140154 0 4 ZC3H3 50_intron 26,.,. 0.615385,.,. ZC3H3/intron/ 0.0001 0.4983 0.6580 2 recessive HG002 HG002 chr8:143460249:AAAATAAATAAAT:A 2,.,. 0.00518638 1 748 0.00210231 1 6 ZC3H3 50_intron 24,.,. 1,.,. ZC3H3/intron/ 0.0001 0.4983 0.6580 2 dominant HG002 HG002 chr8:143578343:C:A 1,.,. 2.63272e-05 0 4 -1 -1 -1 NAPRT 35_5_prime_utr 16,.,. 0.5,.,. NAPRT/5_prime_utr/ENST00000435154;NAPRT/5_prime_utr/ENST00000426292 0.0000 1.2125 1.4860 8 dominant HG002 HG002 chr8:143617631:G:T 1,.,. 1.31451e-05 0 2 -1 -1 -1 TSTA3 50_intron 17,.,. 0.294118,.,. TSTA3/intron/ dominant HG002 HG002 chr8:143859930:C:T 1,.,. -1 -1 -1 0.00140154 0 4 EPPK1 14_missense 24,.,. 0.583333,.,. EPPK1/missense/ENST00000615648;EPPK1/missense/ENST00000568225 0.1233 2.1075 1.9290 9 dominant HG002 HG002 chr8:143983337:C:T 1,.,. -1 -1 -1 0.000700771 0 2 PARP10 14_missense 22,.,. 0.454545,.,. PARP10/missense/ENST00000524918;PARP10/missense/ENST00000313028;PARP10/missense/ENST00000525773;PARP10/missense&NMD_transcript/ENST00000527262 0.0000 0.7283 0.9100 4 recessive HG002 HG002 chr8:144023389:T:C 2,.,. -1 -1 -1 -1 -1 -1 SPATC1 50_intron 14,.,. 1,.,. SPATC1/intron/ 0.0000 0.9745 1.2820 7 recessive HG002 HG002 chr8:144023399:C:A 2,.,. -1 -1 -1 -1 -1 -1 SPATC1 50_intron 15,.,. 1,.,. SPATC1/intron/ 0.0000 0.9745 1.2820 7 recessive HG002 HG002 chr8:144542886:T:C 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP39 50_intron 21,.,. 1,.,. ARHGAP39/intron/;ARHGAP39/non_coding/ 0.0000 0.5114 0.6580 2 recessive HG002 HG002 chr8:144542887:C:T 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP39 50_intron 21,.,. 1,.,. ARHGAP39/intron/;ARHGAP39/non_coding/ 0.0000 0.5114 0.6580 2 recessive HG002 HG002 chr8:144542888:A:G 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP39 50_intron 21,.,. 1,.,. ARHGAP39/intron/;ARHGAP39/non_coding/ 0.0000 0.5114 0.6580 2 recessive HG002 HG002 chr8:144542889:T:A 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP39 50_intron 21,.,. 1,.,. ARHGAP39/intron/;ARHGAP39/non_coding/ 0.0000 0.5114 0.6580 2 dominant HG002 HG002 chr8:144602963:G:A 1,.,. -1 -1 -1 -1 -1 -1 ARHGAP39 50_intron 38,.,. 0.526316,.,. ARHGAP39/intron/ 0.0000 0.5114 0.6580 2 dominant HG002 HG002 chr8:144722157:C:T 1,.,. 1.97031e-05 0 3 -1 -1 -1 ZNF251 30_synonymous 28,.,. 0.428571,.,. ZNF251/synonymous/ENST00000292562 0.0101 0.9863 1.7980 8 dominant HG002 HG002 chr8:144858065:T:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr8:144858066:G:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr8:144858068:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr8:144858069:C:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr8:144876776:TAACTGATTAGTG:T 1,.,. -1 -1 -1 -1 -1 -1 ZNF250 50_intron 28,.,. 0.25,.,. ZNF250/intron/ 0.9326 0.3446 0.5310 1 recessive HG002 HG002 chr8:144918854:A:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chr9:88464:C:CCT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr9:88466:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr9:147353:C:G 1,.,. -1 -1 -1 0.000700771 0 2 CBWD1 50_intron 43,.,. 0.488372,.,. CBWD1/intron/;CBWD1/non_coding/ 0.6062 0.3648 0.6580 2 dominant HG002 HG002 chr9:281892:G:T 1,.,. 6.57428e-06 0 1 -1 -1 -1 DOCK8 50_intron 44,.,. 0.613636,.,. DOCK8/intron/;DOCK8/non_coding/ 0.0000 0.5365 0.6220 2 Combined immunodeficiency due to DOCK8 deficiency 0.000 recessive HG002 HG002 chr9:845777:C:T 2,.,. -1 -1 -1 -1 -1 -1 DMRT1 50_intron 35,.,. 1,.,. DMRT1/non_coding/;DMRT1/intron/ 0.9973 0.2298 0.4320 1 0.000 recessive HG002 HG002 chr9:851045:A:AAAAG 2,.,. 0.000423131 0 6 -1 -1 -1 DMRT1 50_intron 22,.,. 1,.,. DMRT1/non_coding/;DMRT1/intron/ 0.9973 0.2298 0.4320 1 0.000 dominant HG002 HG002 chr9:1420952:TGTTGC:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr9:1420959:A:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr9:2249521:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr9:2249522:CCACCCGCTG:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr9:2484453:T:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.346939,.,. dominant HG002 HG002 chr9:2597399:G:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.55814,.,. dominant HG002 HG002 chr9:2601796:G:A 1,.,. 1.31518e-05 0 2 -1 -1 -1 45,.,. 0.511111,.,. dominant HG002 HG002 chr9:3013778:A:G 1,.,. -1 -1 -1 -1 -1 -1 CARM1P1 53_non_coding 37,.,. 0.432432,.,. CARM1P1/non_coding/ dominant HG002 HG002 chr9:3165272:T:TTATATA 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.714286,.,. dominant HG002 HG002 chr9:3301204:A:T 1,.,. -1 -1 -1 -1 -1 -1 RFX3 50_intron 53,.,. 0.603774,.,. RFX3/intron/ 1.0000 0.1214 0.2120 0 dominant HG002 HG002 chr9:3583749:C:T 1,.,. 1.31442e-05 0 2 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr9:3751561:CTTATGCTGGTAAATA:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr9:3751579:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr9:3751580:A:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr9:4236200:A:AAAG 1,.,. -1 -1 -1 -1 -1 -1 GLIS3 50_intron 31,.,. 0.483871,.,. GLIS3/intron/;GLIS3/non_coding/ 0.0000 0.6787 0.8530 3 Neonatal diabetes mellitus with congenital hypothyroidism 0.000 dominant HG002 HG002 chr9:4259249:A:T 1,.,. -1 -1 -1 -1 -1 -1 GLIS3 50_intron 52,.,. 0.403846,.,. GLIS3/intron/;GLIS3/non_coding/ 0.0000 0.6787 0.8530 3 Neonatal diabetes mellitus with congenital hypothyroidism 0.000 dominant HG002 HG002 chr9:4338387:C:CACAT 1,.,. -1 -1 -1 -1 -1 -1 GLIS3 53_non_coding 26,.,. 0.5,.,. GLIS3/non_coding/ 0.0000 0.6787 0.8530 3 Neonatal diabetes mellitus with congenital hypothyroidism 0.000 recessive HG002 HG002 chr9:4713900:C:CTACACATATACACCTCCACATATACACACCTCCACATACACACCTCCACATATACACGCCTCCACATATACACACCTACACATATACACCTACACATATACACGCCTACACATATACACGCCTACACATACACGCCTACACATATACGCCTACACGTATACACCTACACGTATACACCTCCACATATACACACCTCCACATATACACACCTCCACATATACACCTACACATATACACACCTACACATATACACACCTACACATATACACCTACACATATACACACCTCCACATATACACCTACACATACACACCTACACATATACACCTACACATATACACACCTACACATATACACACCTCCACATACACACACCTCCACATATACACACCTACACATACGCCTACACATATATGCCTACACATATACGCCTACACATATACGCCTACACATATACGCCTACACATATACACCTCCACATATACACACCTCCACATATACACACCTCCACATATACACACCTCCACATATATGCCTACACATATACGCCTACACATATACGCCTACACATATACACACCTCCACATATACACACCTCCACAACTCCACATATACACACCTCCACATATACACACCTACACATATACGCCTACACATATACGCCTACACATA 2,.,. -1 -1 -1 -1 -1 -1 AK3 50_intron 20,.,. 1,.,. AK3/intron/ 0.0000 1.1501 1.6020 8 recessive HG002 HG002 chr9:4758900:C:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr9:5647968:GTGGTGA:G 1,.,. -1 -1 -1 0.00105116 0 3 RIC1 50_intron 42,.,. 0.452381,.,. RIC1/intron/ 0.0000 0.4670 0.5770 1 Catifa syndrome 0.000 dominant HG002 HG002 chr9:5666803:T:G 1,.,. -1 -1 -1 -1 -1 -1 RIC1 50_intron 41,.,. 0.463415,.,. RIC1/intron/ 0.0000 0.4670 0.5770 1 Catifa syndrome 0.000 dominant HG002 HG002 chr9:5666804:TGATTACCAAA:T 1,.,. -1 -1 -1 -1 -1 -1 RIC1 50_intron 41,.,. 0.463415,.,. RIC1/intron/ 0.0000 0.4670 0.5770 1 Catifa syndrome 0.000 dominant HG002 HG002 chr9:5666815:A:T 1,.,. -1 -1 -1 -1 -1 -1 RIC1 50_intron 40,.,. 0.475,.,. RIC1/intron/ 0.0000 0.4670 0.5770 1 Catifa syndrome 0.000 recessive HG002 HG002 chr9:5859269:T:TCATTTCTG 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr9:5859270:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr9:5916567:A:T 1,.,. 2.26275e-05 0 2 -1 -1 -1 KIAA2026 50_intron 44,.,. 0.545455,.,. KIAA2026/intron/ 0.0001 0.4560 0.5620 1 dominant HG002 HG002 chr9:5916572:T:TATAAAACATATATA 1,.,. -1 -1 -1 -1 -1 -1 KIAA2026 50_intron 42,.,. 0.547619,.,. KIAA2026/intron/ 0.0001 0.4560 0.5620 1 dominant HG002 HG002 chr9:5966452:T:G 1,.,. 4.05976e-05 0 4 -1 -1 -1 KIAA2026 50_intron 47,.,. 0.553191,.,. KIAA2026/intron/ 0.0001 0.4560 0.5620 1 dominant HG002 HG002 chr9:6218693:A:C 1,.,. -1 -1 -1 -1 -1 -1 IL33 50_intron 46,.,. 0.543478,.,. IL33/intron/ 0.0000 1.1386 1.6840 8 dominant HG002 HG002 chr9:6807978:C:CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCTTCG 1,.,. -1 -1 -1 0.000700771 0 2 KDM4C 50_intron 33,.,. 0.30303,.,. KDM4C/intron/;KDM4C/non_coding/ 0.0000 0.6536 0.8130 3 dominant HG002 HG002 chr9:6808144:T:G 1,.,. 7.52021e-05 1 4 0.00105116 0 3 KDM4C 50_intron 35,.,. 0.457143,.,. KDM4C/intron/;KDM4C/non_coding/ 0.0000 0.6536 0.8130 3 dominant HG002 HG002 chr9:6809201:G:T 1,.,. 2.63099e-05 0 4 -1 -1 -1 KDM4C 50_intron 39,.,. 0.538462,.,. KDM4C/intron/;KDM4C/non_coding/ 0.0000 0.6536 0.8130 3 dominant HG002 HG002 chr9:6870820:G:C 1,.,. -1 -1 -1 -1 -1 -1 KDM4C 50_intron 30,.,. 0.433333,.,. KDM4C/intron/;KDM4C/non_coding/ 0.0000 0.6536 0.8130 3 dominant HG002 HG002 chr9:6870821:CCTTAG:C 1,.,. -1 -1 -1 -1 -1 -1 KDM4C 50_intron 30,.,. 0.433333,.,. KDM4C/intron/;KDM4C/non_coding/ 0.0000 0.6536 0.8130 3 dominant HG002 HG002 chr9:6920557:A:G 1,.,. -1 -1 -1 -1 -1 -1 KDM4C 50_intron 50,.,. 0.56,.,. KDM4C/intron/;KDM4C/non_coding/ 0.0000 0.6536 0.8130 3 dominant HG002 HG002 chr9:6930660:TAATAGTACAATTAATATA:T 1,.,. -1 -1 -1 -1 -1 -1 KDM4C 50_intron 41,.,. 0.609756,.,. KDM4C/intron/;KDM4C/non_coding/ 0.0000 0.6536 0.8130 3 dominant HG002 HG002 chr9:7356864:ATATGTGTG:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr9:8102218:C:CCAATTTTATTTCTTTCAAAGAATTTTTTTAATTTCTGCCTTATTTACTCAAAAGTCATTCAAGAGAAAGTTGTTTAATAA 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr9:8102221:A:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.425532,.,. dominant HG002 HG002 chr9:8826212:A:ATT 1,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 46,.,. 0.478261,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 dominant HG002 HG002 chr9:8826213:G:A 1,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 47,.,. 0.468085,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 recessive HG002 HG002 chr9:8924125:CGAT:C 2,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 50,.,. 1,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 recessive HG002 HG002 chr9:8924129:T:A 2,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 47,.,. 1,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 dominant HG002 HG002 chr9:8981084:T:G 1,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 58,.,. 0.482759,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 dominant HG002 HG002 chr9:9062572:C:T 1,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 49,.,. 0.489796,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 dominant HG002 HG002 chr9:9275069:T:A 1,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 21,.,. 0.761905,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 dominant HG002 HG002 chr9:9381705:TTTGTTTTTG:T 1,.,. 1.33119e-05 0 2 -1 -1 -1 PTPRD 50_intron 52,.,. 0.423077,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 dominant HG002 HG002 chr9:9393203:G:GCGATAGA 1,.,. 1.97381e-05 0 3 -1 -1 -1 PTPRD 50_intron 43,.,. 0.44186,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 dominant HG002 HG002 chr9:9641084:A:AAAT 1,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 31,.,. 0.580645,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 dominant HG002 HG002 chr9:9641087:G:A 1,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 31,.,. 0.612903,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 dominant HG002 HG002 chr9:9888440:G:C 1,.,. 6.57272e-06 0 1 -1 -1 -1 PTPRD 50_intron 43,.,. 0.44186,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 dominant HG002 HG002 chr9:9923121:G:GGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 45,.,. 0.466667,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 dominant HG002 HG002 chr9:9992999:AACAGT:A 1,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 49,.,. 0.469388,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 dominant HG002 HG002 chr9:9993005:T:C 1,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 47,.,. 0.489362,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 dominant HG002 HG002 chr9:9998127:A:AATAT 1,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 39,.,. 0.435897,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 recessive HG002 HG002 chr9:10010360:TGC:T 2,.,. 3.96055e-05 0 6 -1 -1 -1 PTPRD 50_intron 48,.,. 1,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 recessive HG002 HG002 chr9:10010364:T:C 2,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 48,.,. 1,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 dominant HG002 HG002 chr9:10271535:TTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 43,.,. 0.302326,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 recessive HG002 HG002 chr9:10604168:T:A 2,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 43,.,. 1,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 recessive HG002 HG002 chr9:10604169:TCTGACCTATTCTGACC:T 2,.,. -1 -1 -1 -1 -1 -1 PTPRD 50_intron 43,.,. 1,.,. PTPRD/intron/ 1.0000 0.1513 0.2040 0 dominant HG002 HG002 chr9:10835998:C:CCCCTGCGCTTGCA 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.490196,.,. dominant HG002 HG002 chr9:10836000:C:G 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.490566,.,. dominant HG002 HG002 chr9:11535324:T:A 1,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.42623,.,. dominant HG002 HG002 chr9:11568227:GGAAT:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr9:11605390:C:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr9:11813584:GAGAT:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr9:11813589:A:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr9:11832953:C:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. recessive HG002 HG002 chr9:11835045:A:AGAACGTACTCTT 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr9:11835046:T:A 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. dominant HG002 HG002 chr9:12463133:C:CTCCT 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr9:12588049:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. recessive HG002 HG002 chr9:12693765:A:T 2,.,. -1 -1 -1 -1 -1 -1 TYRP1 50_intron 36,.,. 1,.,. TYRP1/intron/;TYRP1/non_coding/ 0.0000 1.1168 1.3980 7 Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR 0.000 recessive HG002 HG002 chr9:12693766:TTTGTGTGA:T 2,.,. -1 -1 -1 -1 -1 -1 TYRP1 50_intron 36,.,. 1,.,. TYRP1/intron/;TYRP1/non_coding/ 0.0000 1.1168 1.3980 7 Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR 0.000 dominant HG002 HG002 chr9:12703879:ATATATGTGTG:A 1,.,. 1.72485e-05 0 1 -1 -1 -1 TYRP1 50_intron 57,.,. 0.368421,.,. TYRP1/intron/;TYRP1/non_coding/ 0.0000 1.1168 1.3980 7 Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR 0.000 dominant HG002 HG002 chr9:12768864:G:A 1,.,. 6.57566e-06 0 1 -1 -1 -1 32,.,. 0.6875,.,. dominant HG002 HG002 chr9:12780384:T:TTGTATTTTCAGGTG 1,.,. -1 -1 -1 -1 -1 -1 LURAP1L 50_intron 40,.,. 0.575,.,. LURAP1L/intron/ 0.0002 0.8641 1.3980 7 dominant HG002 HG002 chr9:12786584:A:G 1,.,. 2.9044e-05 0 4 -1 -1 -1 LURAP1L 50_intron 34,.,. 0.558824,.,. LURAP1L/intron/ 0.0002 0.8641 1.3980 7 recessive HG002 HG002 chr9:12891230:TGCATTCC:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr9:12891238:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr9:12962878:TA:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.384615,.,. dominant HG002 HG002 chr9:13510331:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.55814,.,. dominant HG002 HG002 chr9:13604899:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr9:13661000:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.642857,.,. recessive HG002 HG002 chr9:14391332:C:G 2,.,. -1 -1 -1 -1 -1 -1 NFIB 50_intron 53,.,. 1,.,. NFIB/intron/;NFIB/non_coding/ 1.0000 0.1769 0.3000 0 Macrocephaly, acquired, with impaired intellectual development 0.000 recessive HG002 HG002 chr9:14391336:CCCCCCACCCCCCG:C 2,.,. -1 -1 -1 -1 -1 -1 NFIB 50_intron 51,.,. 1,.,. NFIB/intron/;NFIB/non_coding/ 1.0000 0.1769 0.3000 0 Macrocephaly, acquired, with impaired intellectual development 0.000 recessive HG002 HG002 chr9:14391352:C:A 2,.,. -1 -1 -1 -1 -1 -1 NFIB 50_intron 53,.,. 1,.,. NFIB/intron/;NFIB/non_coding/ 1.0000 0.1769 0.3000 0 Macrocephaly, acquired, with impaired intellectual development 0.000 dominant HG002 HG002 chr9:14541440:T:G 1,.,. 4.91183e-05 0 2 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr9:14803778:T:C 1,.,. -1 -1 -1 -1 -1 -1 FREM1 50_intron 30,.,. 0.3,.,. FREM1/intron/ 0.0000 1.0111 1.1570 6 Trigonocephaly 2;BNAR syndrome;Oculotrichoanal syndrome 0.000 dominant HG002 HG002 chr9:15165474:T:G 1,.,. -1 -1 -1 -1 -1 -1 TTC39B 36_3_prime_utr 44,.,. 0.568182,.,. TTC39B/3_prime_utr/ENST00000512701 0.0000 0.9129 1.1530 6 dominant HG002 HG002 chr9:15179413:G:A 1,.,. 1.31415e-05 0 2 -1 -1 -1 TTC39B 50_intron 42,.,. 0.547619,.,. TTC39B/intron/;TTC39B/non_coding/ 0.0000 0.9129 1.1530 6 dominant HG002 HG002 chr9:15273659:CAGGTGGGCAG:C 1,.,. -1 -1 -1 -1 -1 -1 TTC39B 50_intron 34,.,. 0.470588,.,. TTC39B/intron/;TTC39B/non_coding/ 0.0000 0.9129 1.1530 6 dominant HG002 HG002 chr9:15273670:G:C 1,.,. -1 -1 -1 -1 -1 -1 TTC39B 50_intron 32,.,. 0.5,.,. TTC39B/intron/;TTC39B/non_coding/ 0.0000 0.9129 1.1530 6 dominant HG002 HG002 chr9:15296678:A:G 1,.,. 1.31399e-05 0 2 -1 -1 -1 TTC39B 50_intron 46,.,. 0.565217,.,. TTC39B/intron/;TTC39B/non_coding/ 0.0000 0.9129 1.1530 6 dominant HG002 HG002 chr9:15350363:G:A 1,.,. 1.97127e-05 0 3 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr9:15463503:T:G 1,.,. -1 -1 -1 -1 -1 -1 SNAPC3 36_3_prime_utr 39,.,. 0.384615,.,. SNAPC3/3_prime_utr/ENST00000380821 0.0000 1.4124 1.8810 9 dominant HG002 HG002 chr9:15718134:G:C 1,.,. 1.97106e-05 0 3 -1 -1 -1 CCDC171 50_intron 39,.,. 0.538462,.,. CCDC171/intron/ 0.0000 1.0602 1.2500 7 dominant HG002 HG002 chr9:15825996:A:T 1,.,. 1.9727e-05 0 3 -1 -1 -1 CCDC171 50_intron 47,.,. 0.595745,.,. CCDC171/intron/ 0.0000 1.0602 1.2500 7 dominant HG002 HG002 chr9:15954186:T:G 1,.,. 1.9779e-05 0 3 -1 -1 -1 CCDC171 50_intron 39,.,. 0.410256,.,. CCDC171/intron/;CCDC171/non_coding/ 0.0000 1.0602 1.2500 7 dominant HG002 HG002 chr9:16115017:C:T 1,.,. 2.62995e-05 0 4 -1 -1 -1 43,.,. 0.581395,.,. dominant HG002 HG002 chr9:16469202:GCT:G 1,.,. -1 -1 -1 -1 -1 -1 BNC2 50_intron 55,.,. 0.490909,.,. BNC2/intron/ 1.0000 0.2509 0.3650 0 Lower urinary tract obstruction, congenital 0.000 dominant HG002 HG002 chr9:16469205:C:T 1,.,. -1 -1 -1 -1 -1 -1 BNC2 50_intron 54,.,. 0.481481,.,. BNC2/intron/ 1.0000 0.2509 0.3650 0 Lower urinary tract obstruction, congenital 0.000 dominant HG002 HG002 chr9:16894648:A:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr9:17081896:T:C 1,.,. 6.57497e-06 0 1 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr9:17171374:C:T 1,.,. 6.58553e-06 0 1 -1 -1 -1 CNTLN 50_intron 42,.,. 0.595238,.,. CNTLN/intron/ 0.0000 1.2359 1.4310 7 dominant HG002 HG002 chr9:17554120:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr9:17624526:T:C 1,.,. -1 -1 -1 -1 -1 -1 SH3GL2 50_intron 51,.,. 0.568627,.,. SH3GL2/intron/;SH3GL2/non_coding/ 0.0001 0.6388 0.9370 4 dominant HG002 HG002 chr9:17624527:A:T 1,.,. -1 -1 -1 -1 -1 -1 SH3GL2 50_intron 49,.,. 0.591837,.,. SH3GL2/intron/;SH3GL2/non_coding/ 0.0001 0.6388 0.9370 4 dominant HG002 HG002 chr9:17624528:T:A 1,.,. -1 -1 -1 -1 -1 -1 SH3GL2 50_intron 50,.,. 0.58,.,. SH3GL2/intron/;SH3GL2/non_coding/ 0.0001 0.6388 0.9370 4 dominant HG002 HG002 chr9:17690042:C:A 1,.,. -1 -1 -1 -1 -1 -1 SH3GL2 50_intron 46,.,. 0.478261,.,. SH3GL2/intron/ 0.0001 0.6388 0.9370 4 dominant HG002 HG002 chr9:17697542:G:C 1,.,. -1 -1 -1 -1 -1 -1 SH3GL2 50_intron 39,.,. 0.487179,.,. SH3GL2/intron/ 0.0001 0.6388 0.9370 4 dominant HG002 HG002 chr9:17872296:TTCAAGCCATTC:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr9:17872309:C:A 1,.,. 1.16442e-05 0 1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr9:17872311:T:A 1,.,. 1.16404e-05 0 1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr9:17973772:C:T 1,.,. -1 -1 -1 -1 -1 -1 ADAMTSL1 50_intron 50,.,. 0.56,.,. ADAMTSL1/intron/ 0.0000 0.6400 0.7440 3 0.000 dominant HG002 HG002 chr9:17973773:A:C 1,.,. -1 -1 -1 -1 -1 -1 ADAMTSL1 50_intron 50,.,. 0.56,.,. ADAMTSL1/intron/ 0.0000 0.6400 0.7440 3 0.000 dominant HG002 HG002 chr9:17973774:T:A 1,.,. -1 -1 -1 -1 -1 -1 ADAMTSL1 50_intron 50,.,. 0.56,.,. ADAMTSL1/intron/ 0.0000 0.6400 0.7440 3 0.000 dominant HG002 HG002 chr9:18024031:C:T 1,.,. -1 -1 -1 -1 -1 -1 ADAMTSL1 50_intron 44,.,. 0.477273,.,. ADAMTSL1/intron/ 0.0000 0.6400 0.7440 3 0.000 recessive HG002 HG002 chr9:18273341:A:C 2,.,. -1 -1 -1 -1 -1 -1 ADAMTSL1 50_intron 40,.,. 1,.,. ADAMTSL1/intron/ 0.0000 0.6400 0.7440 3 0.000 dominant HG002 HG002 chr9:18286741:G:A 1,.,. -1 -1 -1 -1 -1 -1 ADAMTSL1 50_intron 39,.,. 0.461538,.,. ADAMTSL1/intron/ 0.0000 0.6400 0.7440 3 0.000 dominant HG002 HG002 chr9:18287629:A:G 1,.,. -1 -1 -1 -1 -1 -1 ADAMTSL1 50_intron 40,.,. 0.6,.,. ADAMTSL1/intron/ 0.0000 0.6400 0.7440 3 0.000 dominant HG002 HG002 chr9:18455853:A:C 1,.,. 2.64414e-05 0 4 -1 -1 -1 ADAMTSL1 50_intron 47,.,. 0.531915,.,. ADAMTSL1/intron/ 0.0000 0.6400 0.7440 3 0.000 dominant HG002 HG002 chr9:18674198:G:GCACA 1,.,. -1 -1 -1 -1 -1 -1 ADAMTSL1 50_intron 43,.,. 0.395349,.,. ADAMTSL1/intron/;ADAMTSL1/non_coding/ 0.0000 0.6400 0.7440 3 0.000 dominant HG002 HG002 chr9:18712915:A:G 1,.,. -1 -1 -1 -1 -1 -1 ADAMTSL1 50_intron 40,.,. 0.45,.,. ADAMTSL1/intron/;ADAMTSL1/non_coding/ 0.0000 0.6400 0.7440 3 0.000 dominant HG002 HG002 chr9:18758427:T:C 1,.,. 2.62802e-05 0 4 -1 -1 -1 ADAMTSL1 50_intron 46,.,. 0.456522,.,. ADAMTSL1/intron/;ADAMTSL1/non_coding/ 0.0000 0.6400 0.7440 3 0.000 dominant HG002 HG002 chr9:19023796:G:GAAAGC 1,.,. -1 -1 -1 -1 -1 -1 SAXO1 50_intron 25,.,. 0.36,.,. SAXO1/intron/;SAXO1/non_coding/ 0.0000 1.0497 1.5230 8 dominant HG002 HG002 chr9:19023797:G:A 1,.,. -1 -1 -1 -1 -1 -1 SAXO1 50_intron 22,.,. 0.409091,.,. SAXO1/intron/;SAXO1/non_coding/ 0.0000 1.0497 1.5230 8 dominant HG002 HG002 chr9:19147759:G:A 1,.,. 2.63276e-05 0 4 -1 -1 -1 PLIN2 50_intron 34,.,. 0.617647,.,. PLIN2/intron/;PLIN2/non_coding/ 0.0000 1.0270 1.3930 7 dominant HG002 HG002 chr9:19238607:C:CCCCCTCTCCTCCCCT 1,.,. -1 -1 -1 -1 -1 -1 DENND4C 50_intron 25,.,. 0.28,.,. DENND4C/intron/;DENND4C/non_coding/ 0.0000 0.4944 0.5900 2 dominant HG002 HG002 chr9:19389084:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr9:19389085:A:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr9:19511704:T:A 1,.,. 2.62774e-05 0 4 -1 -1 -1 SLC24A2 36_3_prime_utr 46,.,. 0.478261,.,. SLC24A2/3_prime_utr/ENST00000341998 0.0004 0.5236 0.7270 2 dominant HG002 HG002 chr9:19512640:T:G 1,.,. 2.62802e-05 0 4 -1 -1 -1 SLC24A2 36_3_prime_utr 45,.,. 0.488889,.,. SLC24A2/3_prime_utr/ENST00000341998 0.0004 0.5236 0.7270 2 dominant HG002 HG002 chr9:19590904:T:C 1,.,. -1 -1 -1 -1 -1 -1 SLC24A2 50_intron 35,.,. 0.571429,.,. SLC24A2/intron/ 0.0004 0.5236 0.7270 2 dominant HG002 HG002 chr9:19863700:T:TATAGCA 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr9:19863702:C:A 1,.,. 6.61691e-06 0 1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr9:19961019:G:GGTGT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr9:20054888:G:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.590909,.,. recessive HG002 HG002 chr9:20145629:G:GCA 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr9:20145632:A:C 2,.,. 5.31272e-05 0 8 0.000700771 0 2 31,.,. 1,.,. dominant HG002 HG002 chr9:20543666:G:C 1,.,. 1.97626e-05 0 3 -1 -1 -1 MLLT3 50_intron 38,.,. 0.394737,.,. MLLT3/intron/;MLLT3/non_coding/ 1.0000 0.0646 0.1670 0 dominant HG002 HG002 chr9:20938566:C:CGA 1,.,. 2.0512e-05 0 2 -1 -1 -1 FOCAD 50_intron 47,.,. 0.553191,.,. FOCAD/intron/ 0.0000 0.8288 0.9580 4 Liver disease, severe congenital 0.000 dominant HG002 HG002 chr9:21542772:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr9:21962016:AATGTTGT:A 1,.,. -1 -1 -1 -1 -1 -1 AL359922.1 50_intron 38,.,. 0.447368,.,. AL359922.1/intron/ dominant HG002 HG002 chr9:21962026:G:A 1,.,. -1 -1 -1 -1 -1 -1 AL359922.1 50_intron 38,.,. 0.473684,.,. AL359922.1/intron/ dominant HG002 HG002 chr9:22348921:A:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.434783,.,. dominant HG002 HG002 chr9:22432775:TGC:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr9:22432778:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. recessive HG002 HG002 chr9:22676161:T:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr9:22746773:C:A 2,.,. 3.49406e-05 0 3 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr9:22746774:A:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr9:22746775:T:A 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr9:22952664:G:A 1,.,. 1.97475e-05 0 3 -1 -1 -1 39,.,. 0.384615,.,. dominant HG002 HG002 chr9:23078718:C:T 1,.,. 1.32052e-05 0 2 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr9:23116173:C:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.425532,.,. dominant HG002 HG002 chr9:23147223:C:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.534884,.,. recessive HG002 HG002 chr9:23184594:A:C 2,.,. 0.000186508 0 26 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr9:23184595:T:TGAATA 2,.,. 0.000244431 0 37 -1 -1 -1 57,.,. 0.982456,.,. dominant HG002 HG002 chr9:23467038:T:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr9:24334656:T:TCCC 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr9:24334657:T:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr9:24334658:G:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr9:24652639:CT:C 1,.,. 2.62905e-05 0 4 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr9:25065862:C:CGA 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr9:25065865:A:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr9:25069654:A:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr9:25072351:T:TCAG 1,.,. 6.57531e-06 0 1 -1 -1 -1 29,.,. 0.586207,.,. dominant HG002 HG002 chr9:25072352:A:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.586207,.,. recessive HG002 HG002 chr9:25190229:C:A 2,.,. -1 -1 -1 0.00525578 3 15 41,.,. 1,.,. dominant HG002 HG002 chr9:25457298:AC:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr9:26484119:A:G 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.566038,.,. dominant HG002 HG002 chr9:26484121:C:A 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.566038,.,. dominant HG002 HG002 chr9:26484124:G:T 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.528302,.,. dominant HG002 HG002 chr9:26484126:A:AGTAGAGATG 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.54,.,. recessive HG002 HG002 chr9:26740607:AATAC:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr9:26740612:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr9:26975148:G:A 1,.,. -1 -1 -1 -1 -1 -1 IFT74 50_intron 46,.,. 0.391304,.,. IFT74/intron/ 0.0000 1.0651 1.5080 8 Spermatogenic failure 58;Bardet-Biedl syndrome 22;Joubert syndrome 40 0.000 dominant HG002 HG002 chr9:27152600:C:CCG 1,.,. -1 -1 -1 -1 -1 -1 TEK 50_intron 37,.,. 0.378378,.,. TEK/intron/ 1.0000 0.2790 0.3680 0 Glaucoma 3, primary congenital, E;Multiple cutaneous and mucosal venous malformations;Glaucoma 3, primary infantile, B 0.000 recessive HG002 HG002 chr9:27529276:AAATC:A 2,.,. -1 -1 -1 -1 -1 -1 MOB3B 50_intron 28,.,. 1,.,. MOB3B/intron/ 0.6271 0.3562 0.6690 2 recessive HG002 HG002 chr9:27529281:A:C 2,.,. -1 -1 -1 -1 -1 -1 MOB3B 50_intron 27,.,. 1,.,. MOB3B/intron/ 0.6271 0.3562 0.6690 2 dominant HG002 HG002 chr9:27739812:C:A 1,.,. 2.00171e-05 0 3 -1 -1 -1 38,.,. 0.552632,.,. recessive HG002 HG002 chr9:28348387:G:A 2,.,. 0.000282872 0 43 0.000700771 0 2 LINGO2 50_intron 43,.,. 1,.,. LINGO2/intron/ 0.0706 0.4568 0.7140 2 recessive HG002 HG002 chr9:28383254:TTGTG:T 2,.,. 0.00552179 0 407 0.000700771 0 2 LINGO2 50_intron 50,.,. 0.98,.,. LINGO2/intron/ 0.0706 0.4568 0.7140 2 recessive HG002 HG002 chr9:28408831:A:G 2,.,. 0.000584972 0 89 0.000700771 0 2 LINGO2 50_intron 43,.,. 1,.,. LINGO2/intron/ 0.0706 0.4568 0.7140 2 recessive HG002 HG002 chr9:28438926:C:T 2,.,. 3.06621e-05 0 4 -1 -1 -1 LINGO2 50_intron 41,.,. 1,.,. LINGO2/intron/ 0.0706 0.4568 0.7140 2 dominant HG002 HG002 chr9:28442495:G:A 1,.,. -1 -1 -1 -1 -1 -1 LINGO2 50_intron 44,.,. 0.545455,.,. LINGO2/intron/ 0.0706 0.4568 0.7140 2 recessive HG002 HG002 chr9:28490754:T:G 2,.,. 0.000302016 0 46 0.000700771 0 2 LINGO2 50_intron 47,.,. 1,.,. LINGO2/intron/ 0.0706 0.4568 0.7140 2 dominant HG002 HG002 chr9:28517769:A:G 1,.,. 2.62885e-05 0 4 -1 -1 -1 LINGO2 50_intron 46,.,. 0.326087,.,. LINGO2/intron/ 0.0706 0.4568 0.7140 2 recessive HG002 HG002 chr9:28637776:A:C 2,.,. 0.000230012 0 35 0.000700771 0 2 LINGO2 50_intron 42,.,. 1,.,. LINGO2/intron/ 0.0706 0.4568 0.7140 2 dominant HG002 HG002 chr9:28995778:C:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.56,.,. recessive HG002 HG002 chr9:29956022:T:TATA 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr9:29956023:T:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr9:30206444:GCTTCCCA:G 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.777778,.,. dominant HG002 HG002 chr9:30206453:G:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.777778,.,. dominant HG002 HG002 chr9:30303048:TGA:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr9:30303051:C:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr9:30381733:C:CTCTAAATGCT 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.52,.,. dominant HG002 HG002 chr9:30381745:G:A 1,.,. 6.59257e-06 0 1 -1 -1 -1 52,.,. 0.538462,.,. dominant HG002 HG002 chr9:30385779:A:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.442308,.,. dominant HG002 HG002 chr9:30501172:C:T 1,.,. -1 -1 -1 0.000700771 0 2 41,.,. 0.439024,.,. recessive HG002 HG002 chr9:30523803:T:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr9:30523804:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr9:30654392:A:G 1,.,. 1.9784e-05 0 3 -1 -1 -1 43,.,. 0.627907,.,. dominant HG002 HG002 chr9:30998186:A:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr9:31449213:GTTCTGAAAAACTAA:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.591837,.,. dominant HG002 HG002 chr9:31449228:C:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.591837,.,. dominant HG002 HG002 chr9:32086798:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr9:32088151:A:AAG 1,.,. 0.000978474 0 1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr9:32340204:G:A 1,.,. 6.57514e-06 0 1 -1 -1 -1 39,.,. 0.487179,.,. recessive HG002 HG002 chr9:32463890:A:C 2,.,. -1 -1 -1 -1 -1 -1 DDX58 50_intron 42,.,. 1,.,. DDX58/intron/ 0.0000 0.8100 0.9850 5 dominant HG002 HG002 chr9:32470660:G:C 1,.,. -1 -1 -1 -1 -1 -1 DDX58 50_intron 41,.,. 0.463415,.,. DDX58/intron/ 0.0000 0.8100 0.9850 5 dominant HG002 HG002 chr9:32599577:GAAT:G 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.44,.,. dominant HG002 HG002 chr9:32599581:A:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.431373,.,. dominant HG002 HG002 chr9:32895117:A:AATACATAC 1,.,. -1 -1 -1 -1 -1 -1 APTX 50_intron 49,.,. 0.428571,.,. APTX/intron/ 0.0000 0.7096 0.9730 4 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 0.000 dominant HG002 HG002 chr9:33286931:TTTCACC:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr9:33286938:A:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr9:33286939:C:A 1,.,. 0.000171999 0 1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr9:33336634:C:G 1,.,. 1.31454e-05 0 2 -1 -1 -1 NFX1 50_intron 34,.,. 0.558824,.,. NFX1/non_coding/;NFX1/intron/ 0.0003 0.4575 0.5740 1 dominant HG002 HG002 chr9:33428687:A:G 1,.,. 1.97371e-05 0 3 -1 -1 -1 24,.,. 0.583333,.,. dominant HG002 HG002 chr9:33602700:T:G 1,.,. 6.57289e-06 0 1 -1 -1 -1 25,.,. 0.6,.,. dominant HG002 HG002 chr9:33653237:C:T 1,.,. 6.57194e-06 0 1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr9:33704582:A:AACGGGCTTTGCACT 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.333333,.,. dominant HG002 HG002 chr9:33704587:T:G 1,.,. 1.31881e-05 0 2 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr9:33803869:A:G 1,.,. -1 -1 -1 0.00140154 0 4 35,.,. 0.428571,.,. dominant HG002 HG002 chr9:33948581:C:T 1,.,. 1.97208e-05 0 3 -1 -1 -1 UBAP2 14_missense 35,.,. 0.428571,.,. UBAP2/missense/ENST00000379238;UBAP2/missense/ENST00000360802;UBAP2/missense/ENST00000412543;UBAP2/missense/ENST00000421278;UBAP2/3_prime_utr&NMD_transcript/ENST00000629575 0.0000 0.5075 0.6250 2 dominant HG002 HG002 chr9:34109038:T:C 1,.,. 1.98878e-05 0 3 -1 -1 -1 DCAF12 50_intron 28,.,. 0.464286,.,. DCAF12/intron/;DCAF12/non_coding/ 0.0005 0.5094 0.6980 2 dominant HG002 HG002 chr9:34129853:A:AAAAAGAAAAG 1,.,. 2.12734e-05 0 2 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr9:34219827:T:C 1,.,. -1 -1 -1 -1 -1 -1 UBAP1 50_intron 20,.,. 0.7,.,. UBAP1/intron/ 1.0000 0.1353 0.2850 0 Spastic paraplegia 80, autosomal dominant 0.000 dominant HG002 HG002 chr9:34274281:G:T 1,.,. -1 -1 -1 -1 -1 -1 KIF24 50_intron 38,.,. 0.473684,.,. KIF24/intron/ 0.0000 0.5806 0.7320 2 dominant HG002 HG002 chr9:34274286:A:T 1,.,. -1 -1 -1 -1 -1 -1 KIF24 50_intron 39,.,. 0.487179,.,. KIF24/intron/ 0.0000 0.5806 0.7320 2 dominant HG002 HG002 chr9:34831839:C:T 1,.,. 6.57358e-06 0 1 -1 -1 -1 34,.,. 0.5,.,. recessive HG002 HG002 chr9:34867438:T:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr9:35081103:G:A 2,.,. 0.000163713 0 16 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr9:35218733:G:A 1,.,. 1.32247e-05 0 2 -1 -1 -1 UNC13B 50_intron 34,.,. 0.529412,.,. UNC13B/intron/ 0.0000 0.6359 0.7340 2 dominant HG002 HG002 chr9:35337185:A:C 1,.,. 6.57212e-06 0 1 -1 -1 -1 UNC13B 50_intron 43,.,. 0.372093,.,. UNC13B/intron/ 0.0000 0.6359 0.7340 2 dominant HG002 HG002 chr9:35405071:G:A 1,.,. 6.57168e-06 0 1 -1 -1 -1 UNC13B 36_3_prime_utr 31,.,. 0.612903,.,. UNC13B/3_prime_utr/ENST00000635942;UNC13B/3_prime_utr/ENST00000378495;UNC13B/3_prime_utr/ENST00000619578;UNC13B/3_prime_utr/ENST00000617908;UNC13B/3_prime_utr/ENST00000636694 0.0000 0.6359 0.7340 2 dominant HG002 HG002 chr9:36135444:A:C 1,.,. 6.56901e-06 0 1 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr9:36163308:C:G 1,.,. 1.31363e-05 0 2 -1 -1 -1 GLIPR2 36_3_prime_utr 32,.,. 0.4375,.,. GLIPR2/3_prime_utr/ENST00000396613;GLIPR2/3_prime_utr/ENST00000619700;GLIPR2/3_prime_utr/ENST00000377960 0.0005 1.1967 1.8560 9 dominant HG002 HG002 chr9:36311499:C:CCTTTCTTTCTTTCTTTCTTTCTTT 1,.,. -1 -1 -1 0.000700771 0 2 33,.,. 0.484848,.,. dominant HG002 HG002 chr9:36802406:G:A 1,.,. 1.31396e-05 0 2 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr9:36825028:C:CTG 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr9:37544722:C:T 1,.,. 6.58146e-06 0 1 -1 -1 -1 FBXO10;AL513165.2 50_intron 30,.,. 0.433333,.,. FBXO10/intron/;AL513165.2/non_coding/ 0.0001 0.4954 0.6470 2 dominant HG002 HG002 chr9:37683680:C:T 1,.,. -1 -1 -1 -1 -1 -1 AL138752.2;FRMPD1 50_intron 40,.,. 0.4,.,. AL138752.2/intron/;FRMPD1/intron/ 0.0000 0.5985 0.7520 3 dominant HG002 HG002 chr9:38121914:A:T 1,.,. 9.92418e-06 0 1 -1 -1 -1 40,.,. 0.4,.,. recessive HG002 HG002 chr9:38255717:G:GTAAGT 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr9:38300651:T:TCATTAGTGTTA 2,.,. 0.000244021 0 1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr9:38419888:C:CCTT 1,.,. -1 -1 -1 -1 -1 -1 IGFBPL1 50_intron 27,.,. 0.518519,.,. IGFBPL1/intron/ 0.0000 1.0672 1.6660 8 dominant HG002 HG002 chr9:38786576:A:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.621622,.,. dominant HG002 HG002 chr9:38809759:A:T 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.454545,.,. dominant HG002 HG002 chr9:38813821:G:A 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.52381,.,. dominant HG002 HG002 chr9:38866596:C:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.575,.,. dominant HG002 HG002 chr9:39018137:A:C 1,.,. -1 -1 -1 -1 -1 -1 VN2R3P 53_non_coding 60,.,. 0.3,.,. VN2R3P/non_coding/ dominant HG002 HG002 chr9:39106994:A:T 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP3 50_intron 33,.,. 0.393939,.,. CNTNAP3/intron/;CNTNAP3/non_coding/ 0.0000 0.5477 0.7320 2 recessive HG002 HG002 chr9:39344096:G:C 2,.,. -1 -1 -1 0.0234758 4 67 20,.,. 1,.,. dominant HG002 HG002 chr9:39506309:G:C 1,.,. -1 -1 -1 -1 -1 -1 ZNF658B 53_non_coding 45,.,. 0.6,.,. ZNF658B/non_coding/ dominant HG002 HG002 chr9:40202348:A:G 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.611111,.,. recessive HG002 HG002 chr9:40661330:A:G 2,.,. 0.00274456 3 56 0.00140154 0 4 9,.,. 1,.,. recessive HG002 HG002 chr9:40662439:C:T 2,.,. -1 -1 -1 0.0126139 4 36 7,.,. 1,.,. recessive HG002 HG002 chr9:40662469:C:G 2,.,. -1 -1 -1 0.0108619 4 31 7,.,. 1,.,. dominant HG002 HG002 chr9:40756867:A:AAAGTAT 1,.,. -1 -1 -1 -1 -1 -1 AL353626.3 53_non_coding 85,.,. 0.458824,.,. AL353626.3/non_coding/ dominant HG002 HG002 chr9:40756869:T:A 1,.,. -1 -1 -1 -1 -1 -1 AL353626.3 53_non_coding 87,.,. 0.448276,.,. AL353626.3/non_coding/ dominant HG002 HG002 chr9:40996672:G:T 1,.,. -1 -1 -1 -1 -1 -1 FRG1HP 53_non_coding 122,.,. 0.311475,.,. FRG1HP/non_coding/ dominant HG002 HG002 chr9:40996760:T:C 1,.,. -1 -1 -1 0.00140154 0 4 FRG1HP 53_non_coding 121,.,. 0.31405,.,. FRG1HP/non_coding/ dominant HG002 HG002 chr9:40997042:T:C 1,.,. -1 -1 -1 -1 -1 -1 FRG1HP 53_non_coding 125,.,. 0.344,.,. FRG1HP/non_coding/ dominant HG002 HG002 chr9:40997720:G:A 1,.,. -1 -1 -1 -1 -1 -1 FRG1HP 53_non_coding 125,.,. 0.336,.,. FRG1HP/non_coding/ dominant HG002 HG002 chr9:40999431:T:C 1,.,. -1 -1 -1 -1 -1 -1 FRG1HP 53_non_coding 121,.,. 0.338843,.,. FRG1HP/non_coding/ dominant HG002 HG002 chr9:41128490:G:C 1,.,. -1 -1 -1 0.000700771 0 2 FRG1HP 53_non_coding 26,.,. 0.461538,.,. FRG1HP/non_coding/ recessive HG002 HG002 chr9:41538752:CCTAAAAAAGCA:C 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr9:41538765:A:C 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr9:41870303:T:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr9:41870309:T:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr9:41870318:A:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr9:41991759:G:A 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP3B 14_missense 46,.,. 0.586957,.,. CNTNAP3B/missense/ENST00000612828;CNTNAP3B/missense/ENST00000377561;CNTNAP3B/missense&NMD_transcript/ENST00000619138;CNTNAP3B/missense&NMD_transcript/ENST00000479351;CNTNAP3B/missense/ENST00000617422;CNTNAP3B/missense/ENST00000341990 0.0333 0.4666 0.7000 2 dominant HG002 HG002 chr9:42114816:G:C 1,.,. 2.17067e-05 0 3 -1 -1 -1 CNTNAP3B 50_intron 41,.,. 0.560976,.,. CNTNAP3B/intron/;CNTNAP3B/non_coding/ 0.0333 0.4666 0.7000 2 dominant HG002 HG002 chr9:42265074:G:A 1,.,. -1 -1 -1 -1 -1 -1 65,.,. 0.384615,.,. recessive HG002 HG002 chr9:42425626:T:TAC 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr9:42425628:TTAGTGTATTCTTACCATGTTATTAGTTATTAGTGTAGA:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. dominant HG002 HG002 chr9:42900170:A:G 1,.,. 1.97748e-05 0 3 -1 -1 -1 ANKRD20A7P 53_non_coding 62,.,. 0.548387,.,. ANKRD20A7P/non_coding/ dominant HG002 HG002 chr9:43070525:T:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.428571,.,. recessive HG002 HG002 chr9:43240516:C:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr9:43270919:T:TC 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr9:43434436:A:C 2,.,. -1 -1 -1 0.00175193 2 5 9,.,. 1,.,. recessive HG002 HG002 chr9:43446879:C:A 2,.,. -1 -1 -1 0.00280308 4 8 23,.,. 1,.,. recessive HG002 HG002 chr9:43446951:A:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr9:43446958:A:G 2,.,. -1 -1 -1 0.00210231 3 6 23,.,. 1,.,. recessive HG002 HG002 chr9:43447457:G:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr9:43447495:G:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr9:43448332:T:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr9:43461814:C:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr9:43464840:C:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.983333,.,. recessive HG002 HG002 chr9:43464841:C:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr9:43482805:A:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr9:43482849:G:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr9:43482921:A:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr9:43482958:A:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr9:43486900:T:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 0.988235,.,. recessive HG002 HG002 chr9:43486910:T:C 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr9:43512941:T:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr9:43512948:A:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr9:43512964:T:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr9:43512973:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr9:43512981:A:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr9:43512986:A:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr9:43512991:C:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr9:43512999:A:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr9:43532805:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr9:43532815:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr9:43532839:T:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr9:43532884:A:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr9:43549170:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr9:43594070:C:G 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr9:43594078:G:C 2,.,. -1 -1 -1 -1 -1 -1 206,.,. 1,.,. recessive HG002 HG002 chr9:43597590:G:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr9:43606443:T:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr9:43615510:T:C 2,.,. -1 -1 -1 0.0024527 2 7 52,.,. 0.980769,.,. recessive HG002 HG002 chr9:43615539:T:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr9:43743712:A:G 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 0.987952,.,. recessive HG002 HG002 chr9:43823134:A:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr9:43856804:T:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr9:43904170:A:G 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.986301,.,. recessive HG002 HG002 chr9:44011250:G:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr9:44089204:T:A 2,.,. -1 -1 -1 0.00630694 3 18 8,.,. 1,.,. recessive HG002 HG002 chr9:44409648:A:T 2,.,. -1 -1 -1 0.0126139 0 36 6,.,. 1,.,. recessive HG002 HG002 chr9:44409728:C:G 2,.,. -1 -1 -1 0.000700771 0 2 6,.,. 1,.,. recessive HG002 HG002 chr9:44416260:G:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr9:44462214:A:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. dominant HG002 HG002 chr9:60551925:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. recessive HG002 HG002 chr9:60589200:A:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 0.988235,.,. recessive HG002 HG002 chr9:60589272:G:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 0.988095,.,. recessive HG002 HG002 chr9:60644040:T:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr9:60644279:A:C 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr9:61222620:G:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr9:61223163:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr9:61223386:C:A 2,.,. 2.91873e-05 0 4 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr9:61224200:A:G 2,.,. -1 -1 -1 0.00105116 0 3 6,.,. 1,.,. dominant HG002 HG002 chr9:61665549:G:C 1,.,. 6.57065e-06 0 1 -1 -1 -1 21,.,. 0.571429,.,. dominant HG002 HG002 chr9:61975336:G:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.428571,.,. dominant HG002 HG002 chr9:63332627:A:AAAG 1,.,. -1 -1 -1 -1 -1 -1 BMS1P10;AQP7P1;AL845321.1 53_non_coding 41,.,. 0.439024,.,. BMS1P10/non_coding/;AQP7P1/non_coding/;AL845321.1/non_coding/ dominant HG002 HG002 chr9:63762843:A:C 1,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.257576,.,. dominant HG002 HG002 chr9:63814124:C:T 1,.,. -1 -1 -1 -1 -1 -1 277,.,. 0.422383,.,. dominant HG002 HG002 chr9:63814295:C:A 1,.,. -1 -1 -1 -1 -1 -1 268,.,. 0.399254,.,. dominant HG002 HG002 chr9:63815626:T:C 1,.,. -1 -1 -1 0.000700771 0 2 296,.,. 0.425676,.,. dominant HG002 HG002 chr9:63816283:A:G 1,.,. -1 -1 -1 -1 -1 -1 304,.,. 0.572368,.,. dominant HG002 HG002 chr9:63817731:A:C 1,.,. -1 -1 -1 -1 -1 -1 297,.,. 0.430976,.,. dominant HG002 HG002 chr9:63998766:G:A 1,.,. -1 -1 -1 -1 -1 -1 AL163540.1 53_non_coding 37,.,. 0.459459,.,. AL163540.1/non_coding/ recessive HG002 HG002 chr9:64772976:G:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr9:64774110:T:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr9:64774115:C:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr9:64778914:G:A 2,.,. -1 -1 -1 0.00280308 4 8 10,.,. 1,.,. dominant HG002 HG002 chr9:64832579:TTTAC:T 1,.,. -1 -1 -1 -1 -1 -1 AL359955.1 53_non_coding 37,.,. 0.513514,.,. AL359955.1/non_coding/ dominant HG002 HG002 chr9:64839035:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. recessive HG002 HG002 chr9:64991926:C:T 2,.,. 0.013936 3 1743 0.000700771 0 2 13,.,. 1,.,. recessive HG002 HG002 chr9:65819144:C:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr9:65915247:CCG:C 2,.,. 6.05694e-05 0 2 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr9:65915250:C:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr9:66955323:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr9:67052163:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.351351,.,. dominant HG002 HG002 chr9:67834744:G:A 1,.,. 0.000202265 0 2 -1 -1 -1 ANKRD20A1 53_non_coding 67,.,. 0.447761,.,. ANKRD20A1/non_coding/ 0.9363 0.1078 0.5120 1 recessive HG002 HG002 chr9:68401885:ATATATGTGTGTGTG:A 2,.,. 0.00344589 2 359 0.00595655 1 17 PGM5 50_intron 35,.,. 1,.,. PGM5/non_coding/;PGM5/intron/ 0.0154 0.4778 0.7010 2 dominant HG002 HG002 chr9:68527734:G:GCTTGT 1,.,. -1 -1 -1 -1 -1 -1 PGM5 50_intron 26,.,. 0.5,.,. PGM5/intron/;PGM5/non_coding/ 0.0154 0.4778 0.7010 2 dominant HG002 HG002 chr9:68527735:T:C 1,.,. -1 -1 -1 -1 -1 -1 PGM5 50_intron 26,.,. 0.5,.,. PGM5/intron/;PGM5/non_coding/ 0.0154 0.4778 0.7010 2 dominant HG002 HG002 chr9:68539762:G:C 1,.,. -1 -1 -1 -1 -1 -1 TMEM252 50_intron 37,.,. 0.486486,.,. TMEM252/intron/ 0.0205 0.6905 1.3570 7 dominant HG002 HG002 chr9:68935679:C:T 1,.,. -1 -1 -1 -1 -1 -1 PIP5K1B 50_intron 49,.,. 0.510204,.,. PIP5K1B/intron/ 0.0004 0.5979 0.8870 4 dominant HG002 HG002 chr9:69004335:T:TTGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 PIP5K1B 50_intron 32,.,. 0.5,.,. PIP5K1B/intron/ 0.0004 0.5979 0.8870 4 recessive HG002 HG002 chr9:69006703:T:TGA 2,.,. -1 -1 -1 -1 -1 -1 PIP5K1B 50_intron 34,.,. 1,.,. PIP5K1B/intron/ 0.0004 0.5979 0.8870 4 recessive HG002 HG002 chr9:69006705:A:G 2,.,. -1 -1 -1 -1 -1 -1 PIP5K1B 50_intron 34,.,. 1,.,. PIP5K1B/intron/ 0.0004 0.5979 0.8870 4 recessive HG002 HG002 chr9:69006706:C:T 2,.,. -1 -1 -1 -1 -1 -1 PIP5K1B 50_intron 34,.,. 1,.,. PIP5K1B/intron/ 0.0004 0.5979 0.8870 4 recessive HG002 HG002 chr9:69006707:T:A 2,.,. -1 -1 -1 -1 -1 -1 PIP5K1B 50_intron 34,.,. 1,.,. PIP5K1B/intron/ 0.0004 0.5979 0.8870 4 dominant HG002 HG002 chr9:69133968:T:TTCTCTTTCTCTTTC 1,.,. -1 -1 -1 -1 -1 -1 AL358113.1;TJP2 50_intron 33,.,. 0.545455,.,. AL358113.1/intron/;TJP2/non_coding/ 0.0000 0.6874 0.8250 3 Hypercholanemia, familial 1;Cholestasis, progressive familial intrahepatic, 4 0.000 dominant HG002 HG002 chr9:69133970:T:C 1,.,. -1 -1 -1 -1 -1 -1 AL358113.1;TJP2 50_intron 32,.,. 0.59375,.,. AL358113.1/intron/;TJP2/non_coding/ 0.0000 0.6874 0.8250 3 Hypercholanemia, familial 1;Cholestasis, progressive familial intrahepatic, 4 0.000 dominant HG002 HG002 chr9:69184415:G:C 1,.,. -1 -1 -1 -1 -1 -1 AL358113.1;TJP2 50_intron 33,.,. 0.424242,.,. AL358113.1/intron/;TJP2/non_coding/ 0.0000 0.6874 0.8250 3 Hypercholanemia, familial 1;Cholestasis, progressive familial intrahepatic, 4 0.000 dominant HG002 HG002 chr9:69414248:A:ATACC 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr9:69414253:C:T 1,.,. 6.58077e-06 0 1 -1 -1 -1 31,.,. 0.548387,.,. recessive HG002 HG002 chr9:69818372:C:A 2,.,. -1 -1 -1 0.00840925 0 24 33,.,. 1,.,. recessive HG002 HG002 chr9:69861852:CAG:C 2,.,. -1 -1 -1 -1 -1 -1 C9orf135 50_intron 41,.,. 1,.,. C9orf135/intron/;C9orf135/non_coding/ 0.0008 0.7619 1.2610 7 recessive HG002 HG002 chr9:69861855:A:G 2,.,. -1 -1 -1 -1 -1 -1 C9orf135 50_intron 41,.,. 1,.,. C9orf135/intron/;C9orf135/non_coding/ 0.0008 0.7619 1.2610 7 recessive HG002 HG002 chr9:70003865:T:TGACTCTTCTGA 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr9:70003866:C:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr9:70220519:T:C 1,.,. 1.31427e-05 0 2 -1 -1 -1 MAMDC2 50_intron 36,.,. 0.361111,.,. MAMDC2/intron/ 0.0000 0.6801 0.8570 3 dominant HG002 HG002 chr9:70451633:T:TCAAA 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.451613,.,. recessive HG002 HG002 chr9:70503810:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr9:70503811:C:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr9:70503812:T:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr9:70503813:C:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr9:70503814:ATTTG:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. dominant HG002 HG002 chr9:70656987:T:C 1,.,. 6.59448e-06 0 1 -1 -1 -1 TRPM3 50_intron 41,.,. 0.487805,.,. TRPM3/intron/ 0.8970 0.3938 0.4800 1 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures;Cataract 50 with or without glaucoma dominant HG002 HG002 chr9:70686706:C:T 1,.,. -1 -1 -1 0.000700771 0 2 TRPM3 50_intron 32,.,. 0.4375,.,. TRPM3/intron/ 0.8970 0.3938 0.4800 1 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures;Cataract 50 with or without glaucoma dominant HG002 HG002 chr9:70987751:T:C 1,.,. 2.62715e-05 0 4 -1 -1 -1 TRPM3 50_intron 43,.,. 0.395349,.,. TRPM3/intron/;TRPM3/non_coding/ 0.8970 0.3938 0.4800 1 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures;Cataract 50 with or without glaucoma dominant HG002 HG002 chr9:70988821:A:G 1,.,. 1.31282e-05 0 2 -1 -1 -1 TRPM3 50_intron 48,.,. 0.395833,.,. TRPM3/intron/;TRPM3/non_coding/ 0.8970 0.3938 0.4800 1 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures;Cataract 50 with or without glaucoma dominant HG002 HG002 chr9:71007127:A:G 1,.,. -1 -1 -1 -1 -1 -1 TRPM3 50_intron 41,.,. 0.487805,.,. TRPM3/intron/;TRPM3/non_coding/ 0.8970 0.3938 0.4800 1 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures;Cataract 50 with or without glaucoma dominant HG002 HG002 chr9:71151845:A:G 1,.,. 1.31359e-05 0 2 -1 -1 -1 TRPM3 50_intron 29,.,. 0.37931,.,. TRPM3/intron/;TRPM3/non_coding/ 0.8970 0.3938 0.4800 1 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures;Cataract 50 with or without glaucoma dominant HG002 HG002 chr9:71174115:A:C 1,.,. 2.62571e-05 0 4 -1 -1 -1 TRPM3 50_intron 50,.,. 0.56,.,. TRPM3/intron/;TRPM3/non_coding/ 0.8970 0.3938 0.4800 1 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures;Cataract 50 with or without glaucoma dominant HG002 HG002 chr9:71188777:A:G 1,.,. 2.63006e-05 0 4 -1 -1 -1 TRPM3 50_intron 47,.,. 0.531915,.,. TRPM3/intron/;TRPM3/non_coding/ 0.8970 0.3938 0.4800 1 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures;Cataract 50 with or without glaucoma dominant HG002 HG002 chr9:71212159:C:T 1,.,. 2.62836e-05 0 4 -1 -1 -1 TRPM3 50_intron 41,.,. 0.390244,.,. TRPM3/intron/;TRPM3/non_coding/ 0.8970 0.3938 0.4800 1 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures;Cataract 50 with or without glaucoma dominant HG002 HG002 chr9:71348538:G:GTTTA 1,.,. -1 -1 -1 -1 -1 -1 TRPM3 50_intron 47,.,. 0.446809,.,. TRPM3/intron/;TRPM3/non_coding/ 0.8970 0.3938 0.4800 1 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures;Cataract 50 with or without glaucoma dominant HG002 HG002 chr9:72023011:C:A 1,.,. 1.00275e-05 0 1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr9:73051726:A:C 1,.,. -1 -1 -1 -1 -1 -1 ALDH1A1;CYP1D1P 50_intron 50,.,. 0.36,.,. ALDH1A1/intron/;CYP1D1P/non_coding/ 0.8746 0.3612 0.5420 1 dominant HG002 HG002 chr9:73226773:A:AAAAT 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.295455,.,. dominant HG002 HG002 chr9:73545019:TTTG:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr9:74045700:AAAT:A 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.411765,.,. dominant HG002 HG002 chr9:74213100:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.25,.,. dominant HG002 HG002 chr9:74346380:C:CACACACATATATATGTGTTCCATCATATATACACACACATATATGTGTTCCATCATATATATACACACACATATGTGTTCCATCATATATATACACACACATATGTGTTCCATCATATATAT 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr9:74501580:T:C 1,.,. 2.62781e-05 0 4 -1 -1 -1 RORB 50_intron 28,.,. 0.392857,.,. RORB/intron/ 1.0000 0.1304 0.2570 0 Epilepsy, idiopathic generalized, susceptibility to, 15 0.000 dominant HG002 HG002 chr9:74747013:G:GGAAACATA 1,.,. -1 -1 -1 -1 -1 -1 TRPM6 50_intron 37,.,. 0.567568,.,. TRPM6/intron/ 0.0198 0.4179 0.4940 1 Intestinal hypomagnesemia 1 0.000 dominant HG002 HG002 chr9:74747036:C:T 1,.,. -1 -1 -1 -1 -1 -1 TRPM6 50_intron 36,.,. 0.611111,.,. TRPM6/intron/ 0.0198 0.4179 0.4940 1 Intestinal hypomagnesemia 1 0.000 dominant HG002 HG002 chr9:74747037:C:T 1,.,. -1 -1 -1 -1 -1 -1 TRPM6 50_intron 36,.,. 0.611111,.,. TRPM6/intron/ 0.0198 0.4179 0.4940 1 Intestinal hypomagnesemia 1 0.000 dominant HG002 HG002 chr9:74761668:C:G 1,.,. 2.62943e-05 0 4 -1 -1 -1 TRPM6 50_intron 50,.,. 0.6,.,. TRPM6/intron/ 0.0198 0.4179 0.4940 1 Intestinal hypomagnesemia 1 0.000 dominant HG002 HG002 chr9:74826727:TTTTTCTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 TRPM6 50_intron 30,.,. 0.233333,.,. TRPM6/intron/;TRPM6/non_coding/ 0.0198 0.4179 0.4940 1 Intestinal hypomagnesemia 1 0.000 dominant HG002 HG002 chr9:74826739:T:C 1,.,. -1 -1 -1 -1 -1 -1 TRPM6 50_intron 32,.,. 0.21875,.,. TRPM6/intron/;TRPM6/non_coding/ 0.0198 0.4179 0.4940 1 Intestinal hypomagnesemia 1 0.000 dominant HG002 HG002 chr9:74967388:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.431818,.,. dominant HG002 HG002 chr9:75158482:A:AAAAAG 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.391304,.,. dominant HG002 HG002 chr9:75732166:G:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.36,.,. dominant HG002 HG002 chr9:75984310:TAG:T 1,.,. 6.57056e-06 0 1 -1 -1 -1 PCSK5 50_intron 34,.,. 0.5,.,. PCSK5/intron/ 0.0000 0.6061 0.7240 2 dominant HG002 HG002 chr9:76392967:T:C 1,.,. 6.5703e-06 0 1 -1 -1 -1 RFK 50_intron 41,.,. 0.512195,.,. RFK/intron/;RFK/non_coding/ 0.9089 0.1175 0.5570 1 dominant HG002 HG002 chr9:76576545:A:G 1,.,. 1.97127e-05 0 3 -1 -1 -1 GCNT1 53_non_coding 33,.,. 0.727273,.,. GCNT1/non_coding/ 0.0021 0.5516 0.8270 3 dominant HG002 HG002 chr9:76774938:C:A 1,.,. 6.57324e-06 0 1 -1 -1 -1 PRUNE2 50_intron 26,.,. 0.538462,.,. PRUNE2/intron/ 0.0000 0.5953 0.6890 2 dominant HG002 HG002 chr9:76868253:A:C 1,.,. 6.56953e-06 0 1 -1 -1 -1 PRUNE2 50_intron 30,.,. 0.4,.,. PRUNE2/intron/;PRUNE2/non_coding/ 0.0000 0.5953 0.6890 2 dominant HG002 HG002 chr9:77118373:A:C 1,.,. 6.57203e-06 0 1 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr9:77347267:G:C 1,.,. 1.31881e-05 0 2 -1 -1 -1 VPS13A 50_intron 52,.,. 0.403846,.,. VPS13A/intron/ 0.0000 0.6164 0.6960 2 Chorea-acanthocytosis 0.000 dominant HG002 HG002 chr9:77394817:TCC:T 1,.,. 1.31418e-05 0 2 -1 -1 -1 VPS13A 50_intron 39,.,. 0.487179,.,. VPS13A/intron/;VPS13A/non_coding/ 0.0000 0.6164 0.6960 2 Chorea-acanthocytosis 0.000 dominant HG002 HG002 chr9:77665456:G:GGGGGT 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr9:78214988:T:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr9:78476224:CCTTT:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr9:78476231:T:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr9:78531855:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.365854,.,. dominant HG002 HG002 chr9:78789053:A:G 1,.,. -1 -1 -1 0.00105116 0 3 34,.,. 0.441176,.,. dominant HG002 HG002 chr9:79059017:G:T 1,.,. 6.57713e-06 0 1 -1 -1 -1 57,.,. 0.491228,.,. dominant HG002 HG002 chr9:79144949:T:G 1,.,. 6.56909e-06 0 1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr9:79254685:A:G 1,.,. 6.57609e-06 0 1 -1 -1 -1 39,.,. 0.615385,.,. dominant HG002 HG002 chr9:79261806:C:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.413043,.,. dominant HG002 HG002 chr9:79516896:G:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.5,.,. dominant HG002 HG002 chr9:79576410:ACT:A 1,.,. 2.63047e-05 0 4 -1 -1 -1 TLE4 50_intron 41,.,. 0.536585,.,. TLE4/intron/;TLE4/non_coding/ 1.0000 0.0921 0.1660 0 dominant HG002 HG002 chr9:79652102:A:C 1,.,. -1 -1 -1 -1 -1 -1 TLE4 50_intron 35,.,. 0.342857,.,. TLE4/intron/;TLE4/non_coding/ 1.0000 0.0921 0.1660 0 dominant HG002 HG002 chr9:79753610:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr9:79943862:A:T 1,.,. 1.31415e-05 0 2 -1 -1 -1 35,.,. 0.342857,.,. recessive HG002 HG002 chr9:80036156:T:TGC 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr9:80036157:C:G 2,.,. 0.000112043 0 17 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr9:80123284:T:TATAG 1,.,. 6.97837e-05 0 1 -1 -1 -1 39,.,. 0.358974,.,. dominant HG002 HG002 chr9:80220776:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. recessive HG002 HG002 chr9:80335541:ACCTAT:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr9:80335547:C:T 2,.,. 2.48979e-05 0 1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr9:80511971:G:A 1,.,. 6.58709e-06 0 1 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr9:80563688:C:T 1,.,. 6.60397e-06 0 1 -1 -1 -1 MTCO1P51 53_non_coding 54,.,. 0.611111,.,. MTCO1P51/non_coding/ dominant HG002 HG002 chr9:80564086:G:T 1,.,. 6.58735e-06 0 1 -1 -1 -1 MTCO1P51 53_non_coding 54,.,. 0.611111,.,. MTCO1P51/non_coding/ dominant HG002 HG002 chr9:80583542:A:G 1,.,. 2.63293e-05 0 4 -1 -1 -1 53,.,. 0.584906,.,. dominant HG002 HG002 chr9:80600147:C:T 1,.,. 4.70389e-05 0 2 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr9:80600149:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr9:80619836:CACA:C 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.384615,.,. dominant HG002 HG002 chr9:80657946:T:C 1,.,. 1.37502e-05 0 2 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr9:80666769:GGT:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. recessive HG002 HG002 chr9:80705617:C:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. dominant HG002 HG002 chr9:80770502:T:A 1,.,. 3.53995e-05 1 4 -1 -1 -1 46,.,. 0.608696,.,. dominant HG002 HG002 chr9:80774504:A:AAAAAT 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr9:80775619:C:T 1,.,. 1.97332e-05 0 3 -1 -1 -1 44,.,. 0.522727,.,. recessive HG002 HG002 chr9:80971077:T:G 2,.,. 0.00142959 0 4 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr9:81036270:G:A 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.529412,.,. dominant HG002 HG002 chr9:81036272:A:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.568627,.,. dominant HG002 HG002 chr9:81069796:G:GTCCTCTT 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.344828,.,. dominant HG002 HG002 chr9:81069798:T:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.333333,.,. recessive HG002 HG002 chr9:81109561:ATAG:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr9:81109970:AGT:A 1,.,. 3.85267e-05 0 3 -1 -1 -1 44,.,. 0.636364,.,. dominant HG002 HG002 chr9:81277384:G:A 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.35,.,. dominant HG002 HG002 chr9:81333723:C:T 1,.,. 1.31569e-05 0 2 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr9:81511622:T:C 1,.,. 1.31662e-05 0 2 0.000700771 0 2 32,.,. 0.46875,.,. dominant HG002 HG002 chr9:81537767:T:G 1,.,. 6.57039e-06 0 1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr9:81610503:T:C 1,.,. 2.63324e-05 0 4 -1 -1 -1 TLE1 50_intron 34,.,. 0.588235,.,. TLE1/intron/ 1.0000 0.2359 0.3430 0 dominant HG002 HG002 chr9:81647260:G:A 1,.,. 6.5722e-06 0 1 -1 -1 -1 TLE1 50_intron 39,.,. 0.512821,.,. TLE1/intron/ 1.0000 0.2359 0.3430 0 dominant HG002 HG002 chr9:81661200:G:A 1,.,. 2.32731e-05 0 1 -1 -1 -1 TLE1 50_intron 38,.,. 0.447368,.,. TLE1/intron/ 1.0000 0.2359 0.3430 0 dominant HG002 HG002 chr9:81661202:A:G 1,.,. -1 -1 -1 -1 -1 -1 TLE1 50_intron 38,.,. 0.421053,.,. TLE1/intron/ 1.0000 0.2359 0.3430 0 dominant HG002 HG002 chr9:81661204:T:A 1,.,. -1 -1 -1 -1 -1 -1 TLE1 50_intron 38,.,. 0.394737,.,. TLE1/intron/ 1.0000 0.2359 0.3430 0 dominant HG002 HG002 chr9:81674612:C:G 1,.,. 6.57298e-06 0 1 -1 -1 -1 TLE1 50_intron 50,.,. 0.5,.,. TLE1/intron/ 1.0000 0.2359 0.3430 0 dominant HG002 HG002 chr9:81680941:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 TLE1 50_intron 39,.,. 0.358974,.,. TLE1/intron/ 1.0000 0.2359 0.3430 0 recessive HG002 HG002 chr9:81775851:T:C 2,.,. 0.000314465 0 1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr9:81775852:C:CTCCT 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr9:81775854:C:T 2,.,. 1.32839e-05 0 2 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr9:81877298:C:G 1,.,. 1.9721e-05 0 3 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr9:82202117:A:G 1,.,. 1.97075e-05 0 3 -1 -1 -1 AL162726.3 53_non_coding 33,.,. 0.393939,.,. AL162726.3/non_coding/ dominant HG002 HG002 chr9:82331514:T:G 1,.,. 5.72935e-05 0 1 -1 -1 -1 AL162726.3 53_non_coding 38,.,. 0.421053,.,. AL162726.3/non_coding/ dominant HG002 HG002 chr9:82331515:G:GAAAATATGATGCCA 1,.,. -1 -1 -1 -1 -1 -1 AL162726.3 53_non_coding 39,.,. 0.435897,.,. AL162726.3/non_coding/ dominant HG002 HG002 chr9:82331517:G:T 1,.,. -1 -1 -1 -1 -1 -1 AL162726.3 53_non_coding 38,.,. 0.421053,.,. AL162726.3/non_coding/ dominant HG002 HG002 chr9:82331518:T:A 1,.,. -1 -1 -1 -1 -1 -1 AL162726.3 53_non_coding 39,.,. 0.435897,.,. AL162726.3/non_coding/ dominant HG002 HG002 chr9:82331990:G:A 1,.,. 2.63013e-05 0 4 -1 -1 -1 AL162726.3 53_non_coding 39,.,. 0.564103,.,. AL162726.3/non_coding/ dominant HG002 HG002 chr9:82384659:A:T 1,.,. 1.97246e-05 0 3 -1 -1 -1 AL162726.3 53_non_coding 52,.,. 0.5,.,. AL162726.3/non_coding/ dominant HG002 HG002 chr9:82486012:TGAC:T 1,.,. -1 -1 -1 -1 -1 -1 AL162726.3 53_non_coding 37,.,. 0.513514,.,. AL162726.3/non_coding/ dominant HG002 HG002 chr9:82486016:A:C 1,.,. -1 -1 -1 -1 -1 -1 AL162726.3 53_non_coding 37,.,. 0.513514,.,. AL162726.3/non_coding/ dominant HG002 HG002 chr9:82577358:AGAAAAGCCCAG:A 1,.,. -1 -1 -1 -1 -1 -1 AL162726.3 53_non_coding 39,.,. 0.487179,.,. AL162726.3/non_coding/ dominant HG002 HG002 chr9:82577372:C:G 1,.,. -1 -1 -1 -1 -1 -1 AL162726.3 53_non_coding 40,.,. 0.475,.,. AL162726.3/non_coding/ dominant HG002 HG002 chr9:82765708:G:C 1,.,. 6.59248e-06 0 1 -1 -1 -1 AL162726.3 53_non_coding 37,.,. 0.486486,.,. AL162726.3/non_coding/ dominant HG002 HG002 chr9:82786135:T:C 1,.,. 1.97088e-05 0 3 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr9:82932091:C:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr9:83051369:C:T 1,.,. -1 -1 -1 -1 -1 -1 RASEF 50_intron 37,.,. 0.432432,.,. RASEF/intron/ 0.0000 0.9202 1.2020 6 dominant HG002 HG002 chr9:83054364:C:T 1,.,. 0.00023872 0 4 -1 -1 -1 RASEF 50_intron 37,.,. 0.567568,.,. RASEF/intron/ 0.0000 0.9202 1.2020 6 dominant HG002 HG002 chr9:83215004:C:T 1,.,. 6.59787e-06 0 1 -1 -1 -1 43,.,. 0.55814,.,. dominant HG002 HG002 chr9:83233620:TATGG:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr9:83304496:T:A 1,.,. 6.56892e-06 0 1 -1 -1 -1 FRMD3 50_intron 26,.,. 0.384615,.,. FRMD3/intron/ 0.7745 0.3704 0.5630 1 dominant HG002 HG002 chr9:83327953:A:T 1,.,. 6.57203e-06 0 1 -1 -1 -1 FRMD3 50_intron 34,.,. 0.441176,.,. FRMD3/intron/ 0.7745 0.3704 0.5630 1 dominant HG002 HG002 chr9:83329446:C:T 1,.,. 6.57358e-06 0 1 -1 -1 -1 FRMD3 50_intron 33,.,. 0.363636,.,. FRMD3/intron/ 0.7745 0.3704 0.5630 1 dominant HG002 HG002 chr9:83336993:G:C 1,.,. -1 -1 -1 -1 -1 -1 FRMD3 50_intron 36,.,. 0.527778,.,. FRMD3/intron/ 0.7745 0.3704 0.5630 1 dominant HG002 HG002 chr9:83344859:A:G 1,.,. 4.27423e-05 0 4 -1 -1 -1 FRMD3 50_intron 46,.,. 0.565217,.,. FRMD3/intron/ 0.7745 0.3704 0.5630 1 dominant HG002 HG002 chr9:83434260:T:C 1,.,. 2.62767e-05 0 4 -1 -1 -1 FRMD3 50_intron 35,.,. 0.542857,.,. FRMD3/intron/ 0.7745 0.3704 0.5630 1 recessive HG002 HG002 chr9:83465050:C:A 2,.,. 6.91898e-05 0 4 -1 -1 -1 FRMD3 50_intron 30,.,. 1,.,. FRMD3/intron/ 0.7745 0.3704 0.5630 1 recessive HG002 HG002 chr9:83465053:C:A 2,.,. 3.40611e-05 0 2 -1 -1 -1 FRMD3 50_intron 32,.,. 1,.,. FRMD3/intron/ 0.7745 0.3704 0.5630 1 dominant HG002 HG002 chr9:83494165:C:G 1,.,. -1 -1 -1 -1 -1 -1 FRMD3 50_intron 24,.,. 0.458333,.,. FRMD3/intron/ 0.7745 0.3704 0.5630 1 dominant HG002 HG002 chr9:83553507:T:C 1,.,. 6.5684e-06 0 1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr9:83673555:AAAAAAAAAAAAAC:A 1,.,. 1.29809e-05 0 1 -1 -1 -1 UBQLN1 50_intron 35,.,. 0.428571,.,. UBQLN1/intron/;UBQLN1/non_coding/ 1.0000 0.2205 0.3570 0 dominant HG002 HG002 chr9:83695457:C:T 1,.,. 2.62543e-05 0 4 -1 -1 -1 UBQLN1 50_intron 54,.,. 0.5,.,. UBQLN1/intron/ 1.0000 0.2205 0.3570 0 dominant HG002 HG002 chr9:83712312:C:T 1,.,. 6.57471e-06 0 1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr9:83723591:A:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr9:83848068:A:G 1,.,. -1 -1 -1 -1 -1 -1 KIF27 50_intron 37,.,. 0.459459,.,. KIF27/intron/ 0.0000 0.6402 0.7800 3 dominant HG002 HG002 chr9:83848069:T:A 1,.,. -1 -1 -1 -1 -1 -1 KIF27 50_intron 36,.,. 0.472222,.,. KIF27/intron/ 0.0000 0.6402 0.7800 3 dominant HG002 HG002 chr9:83896162:G:C 1,.,. 6.58458e-06 0 1 -1 -1 -1 KIF27 50_intron 50,.,. 0.48,.,. KIF27/intron/ 0.0000 0.6402 0.7800 3 dominant HG002 HG002 chr9:84068648:A:ATGTGTGTGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr9:84249787:T:C 1,.,. 6.56806e-06 0 1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr9:84547217:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.395349,.,. dominant HG002 HG002 chr9:84874388:C:T 1,.,. 1.31334e-05 0 2 -1 -1 -1 NTRK2 36_3_prime_utr 43,.,. 0.581395,.,. NTRK2/3_prime_utr/ENST00000376208;NTRK2/3_prime_utr/ENST00000304053 1.0000 0.0585 0.1230 0 Developmental and epileptic encephalopathy, 58;Obesity, hyperphagia, and developmental delay 0.000 dominant HG002 HG002 chr9:84973661:A:G 1,.,. 1.31413e-05 0 2 -1 -1 -1 NTRK2 50_intron 41,.,. 0.536585,.,. NTRK2/intron/ 1.0000 0.0585 0.1230 0 Developmental and epileptic encephalopathy, 58;Obesity, hyperphagia, and developmental delay 0.000 dominant HG002 HG002 chr9:84994868:C:T 1,.,. 2.6293e-05 0 4 -1 -1 -1 NTRK2 50_intron 41,.,. 0.658537,.,. NTRK2/intron/ 1.0000 0.0585 0.1230 0 Developmental and epileptic encephalopathy, 58;Obesity, hyperphagia, and developmental delay 0.000 dominant HG002 HG002 chr9:85242136:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr9:85242137:A:ATAATT 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr9:85268099:T:A 1,.,. 1.31441e-05 0 2 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr9:85290011:G:GGGT 1,.,. 0.000752257 0 3 -1 -1 -1 16,.,. 0.75,.,. dominant HG002 HG002 chr9:85314573:A:C 1,.,. 3.00607e-05 0 1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr9:85812700:C:T 1,.,. 2.93656e-05 0 4 -1 -1 -1 AL353743.1 53_non_coding 38,.,. 0.526316,.,. AL353743.1/non_coding/ dominant HG002 HG002 chr9:85842056:T:C 1,.,. 1.31397e-05 0 2 -1 -1 -1 AL353743.1 53_non_coding 37,.,. 0.513514,.,. AL353743.1/non_coding/ dominant HG002 HG002 chr9:86068656:C:A 1,.,. 1.31366e-05 0 2 -1 -1 -1 GOLM1 50_intron 28,.,. 0.357143,.,. GOLM1/intron/;GOLM1/non_coding/ 0.0000 0.6336 0.8850 4 dominant HG002 HG002 chr9:86068662:G:A 1,.,. 1.31377e-05 0 2 -1 -1 -1 GOLM1 50_intron 28,.,. 0.357143,.,. GOLM1/intron/;GOLM1/non_coding/ 0.0000 0.6336 0.8850 4 dominant HG002 HG002 chr9:86161934:C:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr9:86161935:C:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr9:86240701:CTTTTTCT:C 1,.,. -1 -1 -1 -1 -1 -1 C9orf153 50_intron 35,.,. 0.314286,.,. C9orf153/intron/ 0.0001 1.6889 1.9500 9 dominant HG002 HG002 chr9:86240712:T:C 1,.,. -1 -1 -1 -1 -1 -1 C9orf153 50_intron 38,.,. 0.289474,.,. C9orf153/intron/ 0.0001 1.6889 1.9500 9 dominant HG002 HG002 chr9:86368570:T:C 1,.,. 1.42308e-05 0 2 -1 -1 -1 41,.,. 0.365854,.,. dominant HG002 HG002 chr9:86368581:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.365854,.,. dominant HG002 HG002 chr9:86368585:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.341463,.,. dominant HG002 HG002 chr9:86400332:TTTTTG:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.304348,.,. dominant HG002 HG002 chr9:86443020:C:CTCTT 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.361702,.,. dominant HG002 HG002 chr9:86476568:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr9:86553560:A:ATG 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr9:86609269:T:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.451613,.,. recessive HG002 HG002 chr9:86623132:C:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr9:86717396:C:T 1,.,. 2.62874e-05 0 4 0.000700771 0 2 33,.,. 0.424242,.,. dominant HG002 HG002 chr9:86948099:C:T 1,.,. 2.14715e-05 0 3 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr9:87003878:T:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. recessive HG002 HG002 chr9:87176151:C:T 2,.,. 0.000347383 0 48 0.00350385 2 10 36,.,. 1,.,. dominant HG002 HG002 chr9:87387012:A:G 1,.,. 1.97057e-05 0 3 -1 -1 -1 47,.,. 0.425532,.,. dominant HG002 HG002 chr9:87652429:C:T 1,.,. -1 -1 -1 -1 -1 -1 DAPK1 50_intron 37,.,. 0.459459,.,. DAPK1/intron/;DAPK1/non_coding/ 1.0000 0.2778 0.3830 0 dominant HG002 HG002 chr9:87653089:T:C 1,.,. -1 -1 -1 -1 -1 -1 DAPK1 50_intron 34,.,. 0.588235,.,. DAPK1/intron/;DAPK1/non_coding/ 1.0000 0.2778 0.3830 0 dominant HG002 HG002 chr9:87653092:C:A 1,.,. -1 -1 -1 -1 -1 -1 DAPK1 50_intron 35,.,. 0.571429,.,. DAPK1/intron/;DAPK1/non_coding/ 1.0000 0.2778 0.3830 0 recessive HG002 HG002 chr9:87781829:A:G 2,.,. 0.00552805 3 842 0.00280308 0 8 CTSL3P 53_non_coding 44,.,. 1,.,. CTSL3P/non_coding/ dominant HG002 HG002 chr9:88146981:G:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr9:89371182:G:GGGGGTGTGGTGTGTATCT 1,.,. -1 -1 -1 -1 -1 -1 SEMA4D 50_intron 27,.,. 0.555556,.,. SEMA4D/intron/;SEMA4D/non_coding/ 0.9988 0.3127 0.4540 1 0.000 dominant HG002 HG002 chr9:89700795:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr9:89741241:T:TTGTG 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.259259,.,. recessive HG002 HG002 chr9:89850084:CTCACAGT:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr9:89850092:C:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr9:90427914:AAACTTCCAC:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr9:90427925:A:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. recessive HG002 HG002 chr9:90735184:A:AAAC 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr9:90735187:A:C 2,.,. 0.00193599 0 252 0.00210231 0 6 28,.,. 1,.,. dominant HG002 HG002 chr9:90955131:T:TTTTC 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.304348,.,. recessive HG002 HG002 chr9:90955134:C:T 2,.,. -1 -1 -1 0.000700771 0 2 39,.,. 1,.,. dominant HG002 HG002 chr9:91133962:C:T 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.583333,.,. dominant HG002 HG002 chr9:91133963:T:C 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.56,.,. dominant HG002 HG002 chr9:91133964:C:T 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.652174,.,. dominant HG002 HG002 chr9:91404762:TTTTTTTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.380952,.,. dominant HG002 HG002 chr9:91613959:G:A 1,.,. -1 -1 -1 -1 -1 -1 ROR2 50_intron 42,.,. 0.52381,.,. ROR2/intron/ 0.3497 0.4060 0.5430 1 Brachydactyly type B1;Autosomal recessive Robinow syndrome 0.000 dominant HG002 HG002 chr9:91613969:T:G 1,.,. -1 -1 -1 -1 -1 -1 ROR2 50_intron 41,.,. 0.536585,.,. ROR2/intron/ 0.3497 0.4060 0.5430 1 Brachydactyly type B1;Autosomal recessive Robinow syndrome 0.000 dominant HG002 HG002 chr9:92567387:T:TATAG 1,.,. -1 -1 -1 -1 -1 -1 CENPP 50_intron 42,.,. 0.571429,.,. CENPP/intron/ 0.0002 0.8003 1.2720 7 dominant HG002 HG002 chr9:92932338:C:T 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.478261,.,. dominant HG002 HG002 chr9:92974100:T:TTCG 1,.,. -1 -1 -1 -1 -1 -1 FGD3 50_intron 21,.,. 0.619048,.,. FGD3/intron/ 0.0000 0.6285 0.8060 3 dominant HG002 HG002 chr9:92974102:T:A 1,.,. -1 -1 -1 -1 -1 -1 FGD3 50_intron 21,.,. 0.619048,.,. FGD3/intron/ 0.0000 0.6285 0.8060 3 dominant HG002 HG002 chr9:93113523:A:C 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.52381,.,. recessive HG002 HG002 chr9:93275069:A:T 2,.,. -1 -1 -1 -1 -1 -1 WNK2 50_intron 43,.,. 1,.,. WNK2/intron/ 0.1219 0.4134 0.5080 1 dominant HG002 HG002 chr9:93351378:A:G 1,.,. -1 -1 -1 0.00140154 0 4 50,.,. 0.48,.,. dominant HG002 HG002 chr9:94497656:T:TAC 1,.,. -1 -1 -1 -1 -1 -1 AL358232.1 53_non_coding 39,.,. 0.25641,.,. AL358232.1/non_coding/ dominant HG002 HG002 chr9:94549160:T:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr9:94549161:A:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr9:94549162:T:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr9:94613531:GAGGC:G 1,.,. 3.70535e-05 0 2 -1 -1 -1 FBP1 50_intron 20,.,. 0.6,.,. FBP1/intron/ 0.0000 0.8223 1.1560 6 Fructose-biphosphatase deficiency 0.000 dominant HG002 HG002 chr9:94613536:G:C 1,.,. -1 -1 -1 -1 -1 -1 FBP1 50_intron 20,.,. 0.6,.,. FBP1/intron/ 0.0000 0.8223 1.1560 6 Fructose-biphosphatase deficiency 0.000 dominant HG002 HG002 chr9:94871374:C:T 1,.,. -1 -1 -1 -1 -1 -1 AOPEP 50_intron 36,.,. 0.5,.,. AOPEP/intron/ 0.0000 0.7817 0.9790 4 Dystonia 31 0.000 recessive HG002 HG002 chr9:95587230:G:GGGAGACA 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr9:95587233:C:G 2,.,. 0.0030303 0 1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr9:95587234:A:T 2,.,. 6.57281e-06 0 1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chr9:95621226:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr9:95781619:G:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.5,.,. dominant HG002 HG002 chr9:95903873:G:T 1,.,. -1 -1 -1 -1 -1 -1 ERCC6L2 50_intron 43,.,. 0.627907,.,. ERCC6L2/intron/;ERCC6L2/non_coding/ 0.0000 0.6423 0.7920 3 Pancytopenia-developmental delay syndrome 0.000 dominant HG002 HG002 chr9:96187988:G:A 1,.,. 1.31603e-05 0 2 -1 -1 -1 38,.,. 0.368421,.,. dominant HG002 HG002 chr9:96447287:C:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr9:96483208:TGTGG:T 1,.,. -1 -1 -1 -1 -1 -1 HABP4 50_intron 34,.,. 0.352941,.,. HABP4/intron/;HABP4/non_coding/ 0.0001 1.0160 1.6480 8 dominant HG002 HG002 chr9:96483215:T:G 1,.,. -1 -1 -1 -1 -1 -1 HABP4 50_intron 33,.,. 0.363636,.,. HABP4/intron/;HABP4/non_coding/ 0.0001 1.0160 1.6480 8 dominant HG002 HG002 chr9:96953586:G:A 1,.,. -1 -1 -1 -1 -1 -1 MFSD14C 53_non_coding 36,.,. 0.361111,.,. MFSD14C/non_coding/ dominant HG002 HG002 chr9:97734005:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr9:97734008:C:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.548387,.,. recessive HG002 HG002 chr9:98164343:C:T 2,.,. 0.00651772 3 993 0.00665732 1 19 CORO2A 50_intron 28,.,. 1,.,. CORO2A/intron/ 0.0000 0.7034 0.9020 4 recessive HG002 HG002 chr9:98171841:G:A 2,.,. 0.00381178 1 580 0.00385424 0 11 CORO2A 50_intron 26,.,. 1,.,. CORO2A/intron/ 0.0000 0.7034 0.9020 4 recessive HG002 HG002 chr9:98200345:G:A 2,.,. 0.000560716 0 85 0.000700771 0 2 TBC1D2 20_splice_region 25,.,. 1,.,. TBC1D2/synonymous/ENST00000465784;TBC1D2/synonymous/ENST00000375063;TBC1D2/synonymous/ENST00000375064;TBC1D2/synonymous/ENST00000342112;TBC1D2/splice_region/ENST00000375066 0.0000 0.6398 0.7960 3 recessive HG002 HG002 chr9:98208742:G:A 2,.,. 0.00328947 1 501 0.0024527 0 7 TBC1D2 30_synonymous 20,.,. 1,.,. TBC1D2/synonymous/ENST00000465784;TBC1D2/synonymous/ENST00000375063;TBC1D2/synonymous/ENST00000375064;TBC1D2/synonymous/ENST00000342112;TBC1D2/synonymous/ENST00000375066 0.0000 0.6398 0.7960 3 recessive HG002 HG002 chr9:98513188:A:G 2,.,. 0.000368314 0 56 0.000700771 0 2 GABBR2 50_intron 32,.,. 1,.,. GABBR2/intron/;GABBR2/non_coding/ 1.0000 0.2596 0.3940 0 Neurodevelopmental disorder with poor language and loss of hand skills;Developmental and epileptic encephalopathy, 59;Tobacco addiction, susceptibility to 0.000 dominant HG002 HG002 chr9:98945528:CCAAAGGA:C 1,.,. -1 -1 -1 -1 -1 -1 COL15A1 50_intron 42,.,. 0.595238,.,. COL15A1/non_coding/;COL15A1/intron/ 0.0000 0.6355 0.7630 3 dominant HG002 HG002 chr9:98945538:C:A 1,.,. -1 -1 -1 -1 -1 -1 COL15A1 50_intron 43,.,. 0.604651,.,. COL15A1/non_coding/;COL15A1/intron/ 0.0000 0.6355 0.7630 3 dominant HG002 HG002 chr9:100299661:C:CACACACACACACACACAGCCTTGCAAACCACCCACCAAGAATCTCAGCAGAGCCTTTTATTGACACACAACACACACACACAGCCTTGCAAACCACCCACCAAGAATCTCAGCAGAGCCTTTTATTG 1,.,. -1 -1 -1 -1 -1 -1 INVS 50_intron 39,.,. 0.435897,.,. INVS/intron/ 0.0000 0.7816 0.9410 4 Infantile nephronophthisis 0.000 dominant HG002 HG002 chr9:100791066:A:G 1,.,. 1.31401e-05 0 2 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr9:101131798:C:A 1,.,. -1 -1 -1 -1 -1 -1 PLPPR1 50_intron 42,.,. 0.571429,.,. PLPPR1/intron/ 0.9443 0.3084 0.5380 1 dominant HG002 HG002 chr9:101686909:C:T 1,.,. 6.57099e-06 0 1 -1 -1 -1 GRIN3A 14_missense 38,.,. 0.552632,.,. GRIN3A/missense/ENST00000361820 0.0000 0.5023 0.6480 2 dominant HG002 HG002 chr9:101901486:T:C 1,.,. 1.31458e-05 0 2 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr9:101962560:C:T 1,.,. 2.63936e-05 0 4 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr9:102043626:G:C 1,.,. 1.97478e-05 0 3 -1 -1 -1 43,.,. 0.581395,.,. dominant HG002 HG002 chr9:102344875:T:TAC 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr9:102344876:C:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr9:102382483:T:TCTGAG 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr9:102546281:G:A 1,.,. 1.97368e-05 0 3 -1 -1 -1 51,.,. 0.470588,.,. dominant HG002 HG002 chr9:102677062:CTTTAT:C 1,.,. 2.63657e-05 0 4 -1 -1 -1 55,.,. 0.363636,.,. dominant HG002 HG002 chr9:102881827:G:GTGGGA 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr9:102881828:G:A 1,.,. 1.9802e-05 0 3 -1 -1 -1 39,.,. 0.384615,.,. dominant HG002 HG002 chr9:102898716:A:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr9:102958720:T:A 1,.,. 1.31655e-05 0 2 -1 -1 -1 46,.,. 0.543478,.,. dominant HG002 HG002 chr9:103056475:C:T 1,.,. 1.97587e-05 0 3 -1 -1 -1 45,.,. 0.577778,.,. dominant HG002 HG002 chr9:103158927:G:A 1,.,. 1.97707e-05 0 3 -1 -1 -1 33,.,. 0.575758,.,. dominant HG002 HG002 chr9:103173150:A:C 1,.,. 6.57358e-06 0 1 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr9:103285973:G:C 1,.,. 2.63016e-05 0 4 -1 -1 -1 44,.,. 0.5,.,. recessive HG002 HG002 chr9:104091403:T:TTTTCAG 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr9:104091404:A:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr9:104317523:G:T 2,.,. -1 -1 -1 0.00210231 0 6 25,.,. 1,.,. dominant HG002 HG002 chr9:104402717:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr9:104557444:A:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.355556,.,. dominant HG002 HG002 chr9:104604009:T:TTACGC 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.576923,.,. dominant HG002 HG002 chr9:104604012:G:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.576923,.,. dominant HG002 HG002 chr9:104713015:A:AAGT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr9:104713016:G:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr9:104933534:A:AAAC 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.392857,.,. dominant HG002 HG002 chr9:105087887:T:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.375,.,. dominant HG002 HG002 chr9:105198379:AC:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr9:106332000:C:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr9:106332001:C:CTACCTTA 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr9:106346194:CA:C 1,.,. -1 -1 -1 0.00140154 0 4 56,.,. 0.535714,.,. dominant HG002 HG002 chr9:106455030:TAGGAATTC:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr9:106719925:G:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr9:106723302:A:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr9:107525604:G:A 1,.,. 2.6395e-05 0 4 -1 -1 -1 25,.,. 0.44,.,. dominant HG002 HG002 chr9:107546013:TTCTC:T 1,.,. 2.64393e-05 0 4 -1 -1 -1 27,.,. 0.62963,.,. dominant HG002 HG002 chr9:107680102:A:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.276596,.,. dominant HG002 HG002 chr9:108067318:G:T 1,.,. 1.42657e-05 0 1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr9:108067319:T:G 1,.,. 6.7605e-06 0 1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr9:108211074:G:GGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr9:109021495:TTTTGTTTG:T 1,.,. 2.38572e-05 0 3 -1 -1 -1 TMEM245 50_intron 35,.,. 0.314286,.,. TMEM245/intron/;TMEM245/non_coding/ 0.0000 0.7293 0.9130 4 dominant HG002 HG002 chr9:109262450:G:GGTGTGT 1,.,. 0.00029656 0 3 -1 -1 -1 EPB41L4B 50_intron 16,.,. 0.75,.,. EPB41L4B/intron/ 1.0000 0.1882 0.2860 0 dominant HG002 HG002 chr9:109312286:A:G 1,.,. 2.6274e-05 0 4 -1 -1 -1 EPB41L4B 50_intron 37,.,. 0.513514,.,. EPB41L4B/intron/ 1.0000 0.1882 0.2860 0 dominant HG002 HG002 chr9:109365116:G:C 1,.,. 2.62902e-05 0 4 0.000700771 0 2 32,.,. 0.3125,.,. dominant HG002 HG002 chr9:109451049:T:A 1,.,. -1 -1 -1 -1 -1 -1 PTPN3 35_5_prime_utr 39,.,. 0.435897,.,. PTPN3/5_prime_utr/ENST00000412145;PTPN3/5_prime_utr/ENST00000446349 0.0000 0.7351 0.8730 4 0.000 dominant HG002 HG002 chr9:109506470:C:CCCTT 1,.,. -1 -1 -1 -1 -1 -1 PALM2AKAP2 50_intron 27,.,. 0.592593,.,. PALM2AKAP2/intron/ 0.0000 0.5192 0.6830 2 dominant HG002 HG002 chr9:109569206:C:T 1,.,. 1.31486e-05 0 2 -1 -1 -1 PALM2AKAP2 50_intron 36,.,. 0.527778,.,. PALM2AKAP2/intron/ 0.0000 0.5192 0.6830 2 dominant HG002 HG002 chr9:109716582:CCT:C 1,.,. -1 -1 -1 -1 -1 -1 PALM2AKAP2 50_intron 51,.,. 0.45098,.,. PALM2AKAP2/intron/ 0.0000 0.5192 0.6830 2 dominant HG002 HG002 chr9:109716585:G:T 1,.,. -1 -1 -1 -1 -1 -1 PALM2AKAP2 50_intron 51,.,. 0.45098,.,. PALM2AKAP2/intron/ 0.0000 0.5192 0.6830 2 dominant HG002 HG002 chr9:109963428:AT:A 1,.,. 1.97099e-05 0 3 -1 -1 -1 PALM2AKAP2 50_intron 46,.,. 0.608696,.,. PALM2AKAP2/intron/ 0.0000 0.5192 0.6830 2 dominant HG002 HG002 chr9:110217426:A:AAAT 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.530612,.,. dominant HG002 HG002 chr9:110217432:A:T 1,.,. 6.60842e-06 0 1 -1 -1 -1 51,.,. 0.509804,.,. dominant HG002 HG002 chr9:110378670:GCCCATGCCTAAGT:G 1,.,. -1 -1 -1 -1 -1 -1 SVEP1 50_intron 33,.,. 0.515152,.,. SVEP1/intron/;SVEP1/non_coding/ 0.0000 0.4390 0.5030 1 dominant HG002 HG002 chr9:110378687:G:T 1,.,. -1 -1 -1 -1 -1 -1 SVEP1 50_intron 33,.,. 0.515152,.,. SVEP1/intron/;SVEP1/non_coding/ 0.0000 0.4390 0.5030 1 dominant HG002 HG002 chr9:110378688:AAT:A 1,.,. -1 -1 -1 -1 -1 -1 SVEP1 50_intron 33,.,. 0.515152,.,. SVEP1/intron/;SVEP1/non_coding/ 0.0000 0.4390 0.5030 1 dominant HG002 HG002 chr9:110420294:G:A 1,.,. -1 -1 -1 -1 -1 -1 SVEP1 50_intron 38,.,. 0.526316,.,. SVEP1/intron/ 0.0000 0.4390 0.5030 1 recessive HG002 HG002 chr9:110689190:TCA:T 2,.,. -1 -1 -1 -1 -1 -1 MUSK 50_intron 36,.,. 1,.,. MUSK/intron/ 0.0000 0.6145 0.7780 3 Congenital myasthenic syndrome 9;Fetal akinesia deformation sequence 1 0.000 dominant HG002 HG002 chr9:110791428:G:T 1,.,. -1 -1 -1 -1 -1 -1 MUSK 50_intron 35,.,. 0.6,.,. MUSK/intron/ 0.0000 0.6145 0.7780 3 Congenital myasthenic syndrome 9;Fetal akinesia deformation sequence 1 0.000 dominant HG002 HG002 chr9:110951064:A:G 1,.,. 2.62802e-05 0 4 -1 -1 -1 LPAR1 50_intron 52,.,. 0.442308,.,. LPAR1/intron/ 0.9979 0.1700 0.3890 0 dominant HG002 HG002 chr9:111067498:T:C 1,.,. 2.62512e-05 0 4 -1 -1 -1 40,.,. 0.35,.,. dominant HG002 HG002 chr9:111104369:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr9:111505305:CTGCAATCAGG:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr9:111505317:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr9:111681216:A:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.604651,.,. dominant HG002 HG002 chr9:111846209:AAC:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.333333,.,. dominant HG002 HG002 chr9:111944059:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. recessive HG002 HG002 chr9:112502370:TGCC:T 2,.,. -1 -1 -1 -1 -1 -1 KIAA1958 50_intron 43,.,. 1,.,. KIAA1958/intron/ 0.9981 0.2830 0.4500 1 dominant HG002 HG002 chr9:112528134:C:A 1,.,. -1 -1 -1 -1 -1 -1 KIAA1958 50_intron 42,.,. 0.52381,.,. KIAA1958/intron/ 0.9981 0.2830 0.4500 1 dominant HG002 HG002 chr9:112617277:A:T 1,.,. -1 -1 -1 -1 -1 -1 KIAA1958 50_intron 43,.,. 0.465116,.,. KIAA1958/intron/ 0.9981 0.2830 0.4500 1 dominant HG002 HG002 chr9:112658913:G:A 1,.,. 1.32463e-05 0 2 -1 -1 -1 KIAA1958 50_intron 24,.,. 0.541667,.,. KIAA1958/intron/ 0.9981 0.2830 0.4500 1 dominant HG002 HG002 chr9:112803511:C:T 1,.,. -1 -1 -1 0.00140154 0 4 SNX30 50_intron 48,.,. 0.5,.,. SNX30/intron/ 0.0159 0.4769 0.7000 2 dominant HG002 HG002 chr9:114511116:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr9:114555277:T:TGC 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr9:114555285:C:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr9:114606697:A:ACCCAGGTC 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr9:114606699:G:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr9:114606700:T:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr9:114630275:T:TATCCATCC 1,.,. -1 -1 -1 -1 -1 -1 TMEM268 50_intron 39,.,. 0.410256,.,. TMEM268/intron/ 0.0062 0.5453 0.8520 3 dominant HG002 HG002 chr9:116446264:G:GAGAGAGAGAGAT 1,.,. -1 -1 -1 -1 -1 -1 ASTN2 50_intron 46,.,. 0.326087,.,. ASTN2/intron/ 0.9915 0.3735 0.4730 1 dominant HG002 HG002 chr9:116634617:T:A 1,.,. -1 -1 -1 -1 -1 -1 ASTN2 50_intron 32,.,. 0.40625,.,. ASTN2/intron/ 0.9915 0.3735 0.4730 1 dominant HG002 HG002 chr9:116822197:A:C 1,.,. -1 -1 -1 -1 -1 -1 ASTN2 50_intron 38,.,. 0.578947,.,. ASTN2/intron/ 0.9915 0.3735 0.4730 1 dominant HG002 HG002 chr9:117045975:T:TGTAC 1,.,. 9.80181e-06 0 1 -1 -1 -1 ASTN2 50_intron 45,.,. 0.488889,.,. ASTN2/intron/ 0.9915 0.3735 0.4730 1 dominant HG002 HG002 chr9:117125828:G:T 1,.,. -1 -1 -1 -1 -1 -1 ASTN2 50_intron 38,.,. 0.394737,.,. ASTN2/intron/ 0.9915 0.3735 0.4730 1 dominant HG002 HG002 chr9:117262393:C:CTTTA 1,.,. -1 -1 -1 -1 -1 -1 ASTN2 50_intron 40,.,. 0.475,.,. ASTN2/intron/ 0.9915 0.3735 0.4730 1 recessive HG002 HG002 chr9:117534580:A:ATATGTG 2,.,. 2.69614e-05 0 2 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr9:118334972:ACACATT:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr9:118334979:G:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr9:118429427:TTG:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.28,.,. dominant HG002 HG002 chr9:118760999:G:GGTGT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr9:119690415:C:T 1,.,. 1.97145e-05 0 3 -1 -1 -1 46,.,. 0.543478,.,. dominant HG002 HG002 chr9:119794016:AGTGTTT:A 1,.,. 6.57203e-06 0 1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr9:119794024:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr9:119794025:C:G 1,.,. 9.59619e-06 0 1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr9:119794026:A:C 1,.,. 6.57307e-06 0 1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr9:119840519:T:C 1,.,. 6.57142e-06 0 1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr9:120397572:A:G 1,.,. -1 -1 -1 -1 -1 -1 CDK5RAP2 50_intron 43,.,. 0.511628,.,. CDK5RAP2/intron/;CDK5RAP2/non_coding/ 0.0000 0.5931 0.6920 2 Microcephaly 3, primary, autosomal recessive 0.000 dominant HG002 HG002 chr9:120520803:C:CTCAT 1,.,. -1 -1 -1 -1 -1 -1 CDK5RAP2 50_intron 35,.,. 0.457143,.,. CDK5RAP2/intron/;CDK5RAP2/non_coding/ 0.0000 0.5931 0.6920 2 Microcephaly 3, primary, autosomal recessive 0.000 dominant HG002 HG002 chr9:120896452:T:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.290323,.,. dominant HG002 HG002 chr9:121518662:ACAT:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.555556,.,. dominant HG002 HG002 chr9:121518666:T:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.555556,.,. dominant HG002 HG002 chr9:121569964:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 DAB2IP 50_intron 24,.,. 0.541667,.,. DAB2IP/intron/ 1.0000 0.2966 0.4070 1 dominant HG002 HG002 chr9:121627135:ACACACT:A 1,.,. -1 -1 -1 -1 -1 -1 DAB2IP 50_intron 31,.,. 0.451613,.,. DAB2IP/intron/ 1.0000 0.2966 0.4070 1 dominant HG002 HG002 chr9:121627143:A:T 1,.,. -1 -1 -1 -1 -1 -1 DAB2IP 50_intron 33,.,. 0.424242,.,. DAB2IP/intron/ 1.0000 0.2966 0.4070 1 recessive HG002 HG002 chr9:121806940:G:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr9:121806942:G:GGTATGTGGATGTGT 2,.,. 2.16932e-05 0 3 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr9:121901647:C:A 1,.,. -1 -1 -1 -1 -1 -1 TTLL11 50_intron 43,.,. 0.55814,.,. TTLL11/intron/ 0.0000 0.7770 1.0440 5 dominant HG002 HG002 chr9:122549398:C:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr9:123103999:G:GTATGTA 1,.,. 2.50263e-05 0 3 -1 -1 -1 RABGAP1 36_3_prime_utr 37,.,. 0.459459,.,. RABGAP1/3_prime_utr/ENST00000373647 1.0000 0.1640 0.2410 0 recessive HG002 HG002 chr9:124399051:AACAC:A 2,.,. 0.000356125 0 1 -1 -1 -1 PSMB7 50_intron 48,.,. 1,.,. PSMB7/intron/;PSMB7/non_coding/ 0.9939 0.1866 0.4270 1 recessive HG002 HG002 chr9:124399056:T:C 2,.,. -1 -1 -1 -1 -1 -1 PSMB7 50_intron 48,.,. 1,.,. PSMB7/intron/;PSMB7/non_coding/ 0.9939 0.1866 0.4270 1 recessive HG002 HG002 chr9:124458048:G:A 2,.,. 0.00773253 3 1177 0.00385424 0 11 ADGRD2 50_intron 29,.,. 1,.,. ADGRD2/intron/ recessive HG002 HG002 chr9:124839008:CATCCGCCAAG:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr9:124839019:C:G 2,.,. 0.00271739 0 3 0.00140154 1 4 22,.,. 1,.,. recessive HG002 HG002 chr9:125016181:AAAAT:A 2,.,. -1 -1 -1 -1 -1 -1 SCAI 50_intron 36,.,. 1,.,. SCAI/intron/ 0.4547 0.3864 0.6970 2 recessive HG002 HG002 chr9:125223313:CCTGCCTGCCACCCTCTG:C 2,.,. -1 -1 -1 -1 -1 -1 RABEPK 50_intron 45,.,. 1,.,. RABEPK/intron/ 0.0000 0.7721 1.0710 5 recessive HG002 HG002 chr9:125223334:C:T 2,.,. -1 -1 -1 -1 -1 -1 RABEPK 50_intron 45,.,. 1,.,. RABEPK/intron/ 0.0000 0.7721 1.0710 5 dominant HG002 HG002 chr9:125273496:C:CT 1,.,. -1 -1 -1 0.00140154 0 4 GAPVD1 50_intron 29,.,. 0.482759,.,. GAPVD1/intron/;GAPVD1/non_coding/ 1.0000 0.2236 0.3400 0 0.000 dominant HG002 HG002 chr9:126026501:A:ACGC 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.615385,.,. dominant HG002 HG002 chr9:126026502:G:C 1,.,. 1.32193e-05 0 2 -1 -1 -1 27,.,. 0.62963,.,. dominant HG002 HG002 chr9:126050027:G:GGT 1,.,. 9.71251e-05 0 4 -1 -1 -1 16,.,. 0.375,.,. dominant HG002 HG002 chr9:126215078:TTTCTTTTGTCTTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr9:126215096:T:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr9:126609482:C:T 1,.,. 1.31375e-05 0 2 -1 -1 -1 24,.,. 0.5,.,. dominant HG002 HG002 chr9:126621663:T:C 1,.,. 4.94854e-05 0 1 -1 -1 -1 LMX1B 50_intron 22,.,. 0.363636,.,. LMX1B/intron/ 0.9996 0.2413 0.4090 1 Nail-patella syndrome;Nail-patella-like renal disease 0.000 dominant HG002 HG002 chr9:126819139:A:T 1,.,. 2.62633e-05 0 4 -1 -1 -1 ZBTB43 50_intron 36,.,. 0.5,.,. ZBTB43/intron/ 0.7276 0.1685 0.7990 3 dominant HG002 HG002 chr9:126840471:C:T 1,.,. 2.63033e-05 0 4 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr9:126952654:AGAGTGTGTGTGT:A 1,.,. -1 -1 -1 0.00105116 0 3 RALGPS1 50_intron 39,.,. 0.435897,.,. RALGPS1/intron/;RALGPS1/non_coding/ 1.0000 0.2390 0.3580 0 dominant HG002 HG002 chr9:127164443:C:T 1,.,. -1 -1 -1 -1 -1 -1 RALGPS1 50_intron 27,.,. 0.62963,.,. RALGPS1/intron/ 1.0000 0.2390 0.3580 0 recessive HG002 HG002 chr9:127961290:C:A 2,.,. -1 -1 -1 -1 -1 -1 FAM102A 50_intron 23,.,. 1,.,. FAM102A/intron/;FAM102A/non_coding/ 0.0022 0.5227 0.7600 3 recessive HG002 HG002 chr9:127961291:ATGGGGCATG:A 2,.,. -1 -1 -1 -1 -1 -1 FAM102A 50_intron 23,.,. 1,.,. FAM102A/intron/;FAM102A/non_coding/ 0.0022 0.5227 0.7600 3 recessive HG002 HG002 chr9:127961301:A:G 2,.,. -1 -1 -1 -1 -1 -1 FAM102A 50_intron 23,.,. 1,.,. FAM102A/intron/;FAM102A/non_coding/ 0.0022 0.5227 0.7600 3 dominant HG002 HG002 chr9:128311774:CTCAGAAAGA:C 1,.,. -1 -1 -1 -1 -1 -1 SWI5;TRUB2 50_intron 23,.,. 0.695652,.,. SWI5/intron/;TRUB2/intron/;TRUB2/non_coding/ 0.0043;;0.0000 0.6567;;0.9247 1.1140;;1.2360 6;;6 dominant HG002 HG002 chr9:128311785:A:T 1,.,. -1 -1 -1 -1 -1 -1 SWI5;TRUB2 50_intron 23,.,. 0.695652,.,. SWI5/intron/;TRUB2/intron/;TRUB2/non_coding/ 0.0043;;0.0000 0.6567;;0.9247 1.1140;;1.2360 6;;6 dominant HG002 HG002 chr9:128648080:T:G 1,.,. -1 -1 -1 -1 -1 -1 WDR34 50_intron 28,.,. 0.571429,.,. WDR34/intron/;WDR34/non_coding/ recessive HG002 HG002 chr9:128849623:GAT:G 2,.,. -1 -1 -1 -1 -1 -1 AL441992.2;KYAT1 50_intron 29,.,. 1,.,. AL441992.2/intron/;KYAT1/non_coding/ 0.0000 0.8433 1.0750 5 recessive HG002 HG002 chr9:128849626:G:T 2,.,. -1 -1 -1 -1 -1 -1 AL441992.2;KYAT1 50_intron 29,.,. 1,.,. AL441992.2/intron/;KYAT1/non_coding/ 0.0000 0.8433 1.0750 5 dominant HG002 HG002 chr9:129089040:C:G 1,.,. 6.56306e-06 0 1 -1 -1 -1 DOLPP1 36_3_prime_utr 29,.,. 0.482759,.,. DOLPP1/3_prime_utr&NMD_transcript/ENST00000327812;DOLPP1/3_prime_utr&NMD_transcript/ENST00000412363;DOLPP1/3_prime_utr/ENST00000372546;DOLPP1/3_prime_utr/ENST00000406974 0.0841 0.4480 0.6900 2 dominant HG002 HG002 chr9:129164829:T:G 1,.,. 0.000307456 0 4 -1 -1 -1 AL158151.3 50_intron 22,.,. 0.545455,.,. AL158151.3/intron/ dominant HG002 HG002 chr9:129389409:G:T 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.7,.,. dominant HG002 HG002 chr9:129392820:T:C 1,.,. -1 -1 -1 -1 -1 -1 16,.,. 0.5625,.,. recessive HG002 HG002 chr9:129623342:A:AAGAAAG 2,.,. -1 -1 -1 -1 -1 -1 NTMT1 50_intron 18,.,. 1,.,. NTMT1/intron/ 0.1868 0.4409 0.7960 3 dominant HG002 HG002 chr9:129728161:G:A 1,.,. 2.6275e-05 0 4 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr9:129762375:G:T 1,.,. -1 -1 -1 0.00140154 0 4 21,.,. 0.619048,.,. recessive HG002 HG002 chr9:129862928:A:T 2,.,. 0.000510628 1 75 0.00210231 1 6 USP20 50_intron 27,.,. 1,.,. USP20/intron/ 0.0000 0.6511 0.7840 3 dominant HG002 HG002 chr9:130111949:G:A 1,.,. 6.56883e-06 0 1 -1 -1 -1 GPR107 50_intron 36,.,. 0.472222,.,. GPR107/intron/;GPR107/non_coding/ 0.4816 0.3681 0.7740 3 dominant HG002 HG002 chr9:130123526:TTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 GPR107 50_intron 35,.,. 0.314286,.,. GPR107/intron/;GPR107/non_coding/ 0.4816 0.3681 0.7740 3 dominant HG002 HG002 chr9:130123533:T:C 1,.,. -1 -1 -1 -1 -1 -1 GPR107 50_intron 34,.,. 0.323529,.,. GPR107/intron/;GPR107/non_coding/ 0.4816 0.3681 0.7740 3 dominant HG002 HG002 chr9:130167926:A:G 1,.,. 1.97192e-05 0 3 -1 -1 -1 12,.,. 0.666667,.,. dominant HG002 HG002 chr9:130269263:T:A 1,.,. 4.17746e-05 0 4 -1 -1 -1 HMCN2 50_intron 31,.,. 0.516129,.,. HMCN2/intron/ 0.0000 0.8428 0.9390 4 dominant HG002 HG002 chr9:130339744:C:T 1,.,. 2.6274e-05 0 4 -1 -1 -1 HMCN2 50_intron 17,.,. 0.352941,.,. HMCN2/intron/ 0.0000 0.8428 0.9390 4 dominant HG002 HG002 chr9:130373585:ATGGATGGG:A 1,.,. -1 -1 -1 -1 -1 -1 HMCN2 50_intron 18,.,. 0.444444,.,. HMCN2/intron/ 0.0000 0.8428 0.9390 4 dominant HG002 HG002 chr9:130643135:G:C 1,.,. 1.31389e-05 0 2 -1 -1 -1 27,.,. 0.407407,.,. dominant HG002 HG002 chr9:130721821:T:TTG 1,.,. 2.16198e-05 0 2 -1 -1 -1 ABL1 50_intron 39,.,. 0.358974,.,. ABL1/intron/ 1.0000 0.1149 0.1900 0 Chronic myelogenous leukemia, BCR-ABL1 positive;Congenital heart defects and skeletal malformations syndrome 0.000 dominant HG002 HG002 chr9:131021466:AATAATAC:A 1,.,. 6.57082e-06 0 1 -1 -1 -1 LAMC3 50_intron 27,.,. 0.518519,.,. LAMC3/intron/;LAMC3/non_coding/ 0.0000 0.7831 0.9090 4 Occipital pachygyria and polymicrogyria 0.000 dominant HG002 HG002 chr9:131046499:A:G 1,.,. 8.19108e-06 0 1 -1 -1 -1 LAMC3 50_intron 28,.,. 0.607143,.,. LAMC3/intron/;LAMC3/non_coding/ 0.0000 0.7831 0.9090 4 Occipital pachygyria and polymicrogyria 0.000 dominant HG002 HG002 chr9:131109196:GTGAA:G 1,.,. -1 -1 -1 -1 -1 -1 AIF1L 50_intron 31,.,. 0.483871,.,. AIF1L/intron/;AIF1L/non_coding/ 0.0012 0.6800 1.1020 6 dominant HG002 HG002 chr9:131260372:G:C 1,.,. 1.31408e-05 0 2 -1 -1 -1 FAM78A 36_3_prime_utr 24,.,. 0.458333,.,. FAM78A/3_prime_utr/ENST00000372269;FAM78A/3_prime_utr/ENST00000372271 0.0366 0.5020 0.8310 3 recessive HG002 HG002 chr9:131299366:A:AGAAGGGGATGTAGG 2,.,. 0.000105369 0 16 -1 -1 -1 PLPP7 50_intron 29,.,. 1,.,. PLPP7/intron/ 0.0003 0.8084 1.3090 7 recessive HG002 HG002 chr9:131299367:C:T 2,.,. 0.000131705 0 20 -1 -1 -1 PLPP7 50_intron 30,.,. 1,.,. PLPP7/intron/ 0.0003 0.8084 1.3090 7 recessive HG002 HG002 chr9:131299368:T:C 2,.,. -1 -1 -1 -1 -1 -1 PLPP7 50_intron 30,.,. 1,.,. PLPP7/intron/ 0.0003 0.8084 1.3090 7 recessive HG002 HG002 chr9:131627002:T:TGAGGTCA 2,.,. -1 -1 -1 -1 -1 -1 RAPGEF1 50_intron 30,.,. 1,.,. RAPGEF1/intron/;RAPGEF1/non_coding/ 1.0000 0.2389 0.3210 0 recessive HG002 HG002 chr9:131627003:A:G 2,.,. -1 -1 -1 -1 -1 -1 RAPGEF1 50_intron 30,.,. 1,.,. RAPGEF1/intron/;RAPGEF1/non_coding/ 1.0000 0.2389 0.3210 0 dominant HG002 HG002 chr9:131634846:TG:T 1,.,. 6.67726e-06 0 1 -1 -1 -1 RAPGEF1 50_intron 33,.,. 0.575758,.,. RAPGEF1/intron/;RAPGEF1/non_coding/ 1.0000 0.2389 0.3210 0 dominant HG002 HG002 chr9:131827942:C:T 1,.,. 1.97101e-05 0 3 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr9:131835635:T:A 1,.,. 6.57428e-06 0 1 -1 -1 -1 27,.,. 0.62963,.,. dominant HG002 HG002 chr9:131886411:C:T 1,.,. 6.57557e-06 0 1 -1 -1 -1 MED27 50_intron 35,.,. 0.514286,.,. MED27/intron/ 0.0000 0.7575 1.0820 5 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 0.000 dominant HG002 HG002 chr9:131916598:T:C 1,.,. 6.57039e-06 0 1 -1 -1 -1 MED27 50_intron 47,.,. 0.510638,.,. MED27/intron/ 0.0000 0.7575 1.0820 5 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 0.000 dominant HG002 HG002 chr9:132029123:A:G 1,.,. 2.62847e-05 0 4 -1 -1 -1 MED27 50_intron 41,.,. 0.609756,.,. MED27/intron/;MED27/non_coding/ 0.0000 0.7575 1.0820 5 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 0.000 recessive HG002 HG002 chr9:132070703:G:A 2,.,. -1 -1 -1 -1 -1 -1 MED27 50_intron 35,.,. 1,.,. MED27/intron/;MED27/non_coding/ 0.0000 0.7575 1.0820 5 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 0.000 dominant HG002 HG002 chr9:132390681:C:T 1,.,. 1.31409e-05 0 2 -1 -1 -1 TTF1 14_missense 25,.,. 0.52,.,. TTF1/missense/ENST00000334270;TTF1/missense/ENST00000612514 0.0000 0.8214 1.0180 5 dominant HG002 HG002 chr9:132418647:A:G 1,.,. -1 -1 -1 -1 -1 -1 CFAP77 50_intron 33,.,. 0.636364,.,. CFAP77/intron/ 0.0000 0.7651 1.0920 5 dominant HG002 HG002 chr9:132695725:AAC:A 1,.,. -1 -1 -1 0.00140154 0 4 37,.,. 0.432432,.,. dominant HG002 HG002 chr9:133284319:T:A 1,.,. 6.58025e-06 0 1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr9:133284323:T:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr9:133383307:T:C 1,.,. 0.00212766 0 1 -1 -1 -1 STKLD1 50_intron 21,.,. 0.52381,.,. STKLD1/intron/;STKLD1/non_coding/ 0.0000 0.9732 1.1790 6 dominant HG002 HG002 chr9:133383308:G:A 1,.,. 0.00151057 0 1 -1 -1 -1 STKLD1 50_intron 20,.,. 0.55,.,. STKLD1/intron/;STKLD1/non_coding/ 0.0000 0.9732 1.1790 6 dominant HG002 HG002 chr9:133383414:A:G 1,.,. -1 -1 -1 -1 -1 -1 STKLD1 50_intron 20,.,. 0.6,.,. STKLD1/intron/;STKLD1/non_coding/ 0.0000 0.9732 1.1790 6 dominant HG002 HG002 chr9:133734964:C:T 1,.,. -1 -1 -1 -1 -1 -1 SARDH 50_intron 23,.,. 0.521739,.,. SARDH/intron/ 0.0000 0.9147 1.0880 5 Sarcosine dehydrogenase deficiency 0.000 dominant HG002 HG002 chr9:133782097:CGGCGGGGGCG:C 1,.,. -1 -1 -1 -1 -1 -1 VAV2 50_intron 26,.,. 0.5,.,. VAV2/intron/ 0.0000 0.5068 0.6230 2 dominant HG002 HG002 chr9:134043506:A:C 1,.,. -1 -1 -1 -1 -1 -1 BRD3 50_intron 25,.,. 0.24,.,. BRD3/intron/ 1.0000 0.2607 0.3960 0 dominant HG002 HG002 chr9:134080491:T:A 1,.,. 2.62909e-05 0 4 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr9:134310596:G:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.571429,.,. dominant HG002 HG002 chr9:134784951:G:T 1,.,. -1 -1 -1 -1 -1 -1 COL5A1 50_intron 19,.,. 0.684211,.,. COL5A1/intron/ 1.0000 0.0579 0.0890 0 Fibromuscular dysplasia, multifocal;Ehlers-Danlos syndrome, classic type, 1 0.000 dominant HG002 HG002 chr9:134847046:T:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr9:134873909:GTTTTTGT:G 1,.,. 5.45375e-05 0 1 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr9:134992439:A:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr9:135201740:C:G 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr9:135201741:T:C 1,.,. 2.16268e-05 0 2 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr9:135265012:C:T 1,.,. 2.32767e-05 0 3 0.00140154 0 4 18,.,. 0.611111,.,. recessive HG002 HG002 chr9:135298461:G:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr9:135419800:T:G 1,.,. 2.86562e-05 0 4 -1 -1 -1 25,.,. 0.56,.,. dominant HG002 HG002 chr9:135425014:T:A 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.625,.,. dominant HG002 HG002 chr9:135425015:T:TTTTTGG 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.538462,.,. dominant HG002 HG002 chr9:135727301:C:T 1,.,. 3.99736e-05 0 4 -1 -1 -1 KCNT1 50_intron 9,.,. 0.444444,.,. KCNT1/intron/ 0.0000 0.5644 0.6820 2 Developmental and epileptic encephalopathy, 14;Autosomal dominant nocturnal frontal lobe epilepsy 5 0.000 dominant HG002 HG002 chr9:136174193:AGTGTCTGGAGTATCTGGG:A 1,.,. 1.60792e-05 0 2 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr9:136175022:A:ATCTGGGGTG 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.423077,.,. recessive HG002 HG002 chr9:136533079:C:A 2,.,. -1 -1 -1 -1 -1 -1 NOTCH1 50_intron 15,.,. 1,.,. NOTCH1/intron/ 1.0000 0.1640 0.2170 0 Aortic valve disease 1;Adams-Oliver syndrome 5 0.000 dominant HG002 HG002 chr9:136726535:GCGTAC:G 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.444444,.,. dominant HG002 HG002 chr9:136726542:T:A 1,.,. 0.00153139 0 2 -1 -1 -1 27,.,. 0.444444,.,. dominant HG002 HG002 chr9:137114422:G:T 1,.,. -1 -1 -1 -1 -1 -1 DPP7 50_intron 22,.,. 0.545455,.,. DPP7/intron/;DPP7/non_coding/ 0.0000 1.4084 1.7070 8 dominant HG002 HG002 chr9:137156551:C:T 1,.,. -1 -1 -1 -1 -1 -1 GRIN1 50_intron 27,.,. 0.703704,.,. GRIN1/intron/;GRIN1/non_coding/ 0.0184 0.4375 0.5740 1 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive;Developmental and epileptic encephalopathy 101;Intellectual disability, autosomal dominant 8 0.000 recessive HG002 HG002 chr9:137267195:G:A 2,.,. -1 -1 -1 -1 -1 -1 NELFB 50_intron 23,.,. 1,.,. NELFB/intron/ 0.0000 0.6089 0.8070 3 dominant HG002 HG002 chr9:137440835:C:CCCCCCCAGACCAGGACAG 1,.,. -1 -1 -1 0.00140154 0 4 ENTPD8 50_intron 17,.,. 0.529412,.,. ENTPD8/non_coding/;ENTPD8/intron/ 0.0000 0.7462 0.9890 5 dominant HG002 HG002 chr9:137467049:C:T 1,.,. 1.98557e-05 0 3 -1 -1 -1 PNPLA7 50_intron 15,.,. 0.666667,.,. PNPLA7/intron/;PNPLA7/non_coding/ 0.0000 1.0090 1.1540 6 dominant HG002 HG002 chr9:137795401:G:GCACACACACACACACACA 1,.,. -1 -1 -1 -1 -1 -1 EHMT1 50_intron 26,.,. 0.346154,.,. EHMT1/intron/;EHMT1/non_coding/ 1.0000 0.1035 0.1590 0 Kleefstra syndrome 1 0.000 dominant HG002 HG002 chr9:137844123:C:CCT 1,.,. -1 -1 -1 -1 -1 -1 EHMT1 50_intron 24,.,. 0.375,.,. EHMT1/intron/ 1.0000 0.1035 0.1590 0 Kleefstra syndrome 1 0.000 dominant HG002 HG002 chr9:137844124:T:C 1,.,. -1 -1 -1 -1 -1 -1 EHMT1 50_intron 25,.,. 0.4,.,. EHMT1/intron/ 1.0000 0.1035 0.1590 0 Kleefstra syndrome 1 0.000 dominant HG002 HG002 chr9:137861559:TTTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 EHMT1 50_intron 24,.,. 0.333333,.,. EHMT1/intron/ 1.0000 0.1035 0.1590 0 Kleefstra syndrome 1 0.000 dominant HG002 HG002 chr9:137861567:T:C 1,.,. 2.48503e-05 0 2 -1 -1 -1 EHMT1 50_intron 24,.,. 0.333333,.,. EHMT1/intron/ 1.0000 0.1035 0.1590 0 Kleefstra syndrome 1 0.000 dominant HG002 HG002 chr9:138177663:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 AL591424.3 53_non_coding 45,.,. 0.444444,.,. AL591424.3/non_coding/ recessive HG002 HG002 chr10:123663:C:A 2,.,. -1 -1 -1 0.00525578 0 15 45,.,. 1,.,. dominant HG002 HG002 chr10:546277:T:A 1,.,. -1 -1 -1 -1 -1 -1 DIP2C 50_intron 16,.,. 0.75,.,. DIP2C/intron/ 1.0000 0.1760 0.2350 0 dominant HG002 HG002 chr10:606463:G:C 1,.,. 7.49535e-06 0 1 -1 -1 -1 DIP2C 50_intron 10,.,. 0.2,.,. DIP2C/intron/ 1.0000 0.1760 0.2350 0 recessive HG002 HG002 chr10:657455:T:C 2,.,. -1 -1 -1 0.00315347 0 9 DIP2C 50_intron 31,.,. 1,.,. DIP2C/intron/ 1.0000 0.1760 0.2350 0 dominant HG002 HG002 chr10:779605:A:G 1,.,. -1 -1 -1 -1 -1 -1 15,.,. 0.733333,.,. dominant HG002 HG002 chr10:808756:C:T 1,.,. 6.66418e-06 0 1 -1 -1 -1 LARP4B 50_intron 33,.,. 0.30303,.,. LARP4B/intron/ 1.0000 0.1748 0.2890 0 dominant HG002 HG002 chr10:828778:T:G 1,.,. -1 -1 -1 -1 -1 -1 LARP4B 50_intron 49,.,. 0.469388,.,. LARP4B/intron/ 1.0000 0.1748 0.2890 0 dominant HG002 HG002 chr10:1209555:A:G 1,.,. -1 -1 -1 -1 -1 -1 ADARB2 50_intron 26,.,. 0.5,.,. ADARB2/intron/ 0.0045 0.4843 0.6810 2 recessive HG002 HG002 chr10:1235738:T:C 2,.,. -1 -1 -1 -1 -1 -1 ADARB2 50_intron 10,.,. 1,.,. ADARB2/intron/;ADARB2/non_coding/ 0.0045 0.4843 0.6810 2 recessive HG002 HG002 chr10:1235740:A:C 2,.,. -1 -1 -1 -1 -1 -1 ADARB2 50_intron 10,.,. 1,.,. ADARB2/intron/;ADARB2/non_coding/ 0.0045 0.4843 0.6810 2 recessive HG002 HG002 chr10:1397062:CGTCTCTCCCCTCCCGAGCGCAGGCTTCCTGGGTCACCATCA:C 2,.,. -1 -1 -1 0.0024527 0 7 ADARB2 50_intron 25,.,. 1,.,. ADARB2/intron/ 0.0045 0.4843 0.6810 2 recessive HG002 HG002 chr10:1397104:G:T 2,.,. -1 -1 -1 0.00630694 0 18 ADARB2 50_intron 26,.,. 1,.,. ADARB2/intron/ 0.0045 0.4843 0.6810 2 recessive HG002 HG002 chr10:1415496:C:T 2,.,. 9.8809e-05 0 15 -1 -1 -1 ADARB2 50_intron 34,.,. 1,.,. ADARB2/intron/ 0.0045 0.4843 0.6810 2 recessive HG002 HG002 chr10:1460896:T:A 2,.,. -1 -1 -1 0.0115627 4 33 ADARB2 50_intron 23,.,. 1,.,. ADARB2/intron/ 0.0045 0.4843 0.6810 2 dominant HG002 HG002 chr10:1603019:T:C 1,.,. 1.18439e-05 0 1 -1 -1 -1 ADARB2 50_intron 42,.,. 0.47619,.,. ADARB2/intron/ 0.0045 0.4843 0.6810 2 dominant HG002 HG002 chr10:1603020:ACACACAT:A 1,.,. -1 -1 -1 -1 -1 -1 ADARB2 50_intron 41,.,. 0.487805,.,. ADARB2/intron/ 0.0045 0.4843 0.6810 2 dominant HG002 HG002 chr10:1637377:CA:C 1,.,. 1.31442e-05 0 2 -1 -1 -1 ADARB2 50_intron 31,.,. 0.516129,.,. ADARB2/intron/ 0.0045 0.4843 0.6810 2 dominant HG002 HG002 chr10:1965952:GCTGTA:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr10:1965959:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr10:2015250:T:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chr10:2105494:T:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr10:2132440:CCGGGGTGGGGG:C 1,.,. 2.61238e-05 0 3 0.00105116 0 3 44,.,. 0.340909,.,. dominant HG002 HG002 chr10:2337015:A:T 1,.,. 3.08566e-05 0 4 0.00140154 0 4 37,.,. 0.378378,.,. recessive HG002 HG002 chr10:2569741:TTGTGTA:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr10:2569748:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr10:3061923:GGAGGATTAGTAAAA:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr10:3061948:C:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. recessive HG002 HG002 chr10:3120379:G:T 2,.,. -1 -1 -1 -1 -1 -1 PFKP 50_intron 29,.,. 1,.,. PFKP/intron/ 0.0000 1.0567 1.2860 7 dominant HG002 HG002 chr10:3162180:C:A 1,.,. -1 -1 -1 -1 -1 -1 PITRM1 50_intron 41,.,. 0.390244,.,. PITRM1/intron/ 0.0000 0.8205 0.9970 5 Spinocerebellar ataxia, autosomal recessive 30 0.000 dominant HG002 HG002 chr10:3252339:C:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. recessive HG002 HG002 chr10:3283444:C:T 2,.,. 0.000463077 0 30 0.000700771 0 2 30,.,. 1,.,. dominant HG002 HG002 chr10:4161556:ATTCAT:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr10:4161563:G:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr10:4458016:C:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. recessive HG002 HG002 chr10:4492199:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr10:4668330:T:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr10:4971505:T:TTATATA 1,.,. -1 -1 -1 -1 -1 -1 AKR1C1 50_intron 38,.,. 0.394737,.,. AKR1C1/non_coding/;AKR1C1/intron/ 0.0000 0.9251 1.2550 7 dominant HG002 HG002 chr10:4979800:T:C 1,.,. -1 -1 -1 -1 -1 -1 AKR1C1 36_3_prime_utr 43,.,. 0.372093,.,. AKR1C1/3_prime_utr/ENST00000380872 0.0000 0.9251 1.2550 7 dominant HG002 HG002 chr10:4986672:T:C 1,.,. 6.60014e-06 0 1 -1 -1 -1 43,.,. 0.465116,.,. recessive HG002 HG002 chr10:5108447:C:CAT 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr10:5127601:C:CAGGCATGTG 2,.,. -1 -1 -1 -1 -1 -1 AKR1C5P 53_non_coding 46,.,. 1,.,. AKR1C5P/non_coding/ recessive HG002 HG002 chr10:5127605:GCT:G 2,.,. -1 -1 -1 -1 -1 -1 AKR1C5P 53_non_coding 46,.,. 1,.,. AKR1C5P/non_coding/ dominant HG002 HG002 chr10:5602625:A:AGAGTGCCATGAGACCAGG 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr10:5602627:C:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr10:5602631:A:T 1,.,. 1.31876e-05 0 2 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr10:5652038:A:C 1,.,. -1 -1 -1 -1 -1 -1 ASB13 50_intron 30,.,. 0.533333,.,. ASB13/intron/;ASB13/non_coding/ 0.0000 1.2662 1.6860 8 dominant HG002 HG002 chr10:5879727:T:TGGTTTAAATAACA 1,.,. -1 -1 -1 -1 -1 -1 ANKRD16 50_intron 36,.,. 0.5,.,. ANKRD16/intron/ 0.0000 0.9942 1.3560 7 dominant HG002 HG002 chr10:5934377:T:G 1,.,. -1 -1 -1 -1 -1 -1 FBH1 50_intron 30,.,. 0.366667,.,. FBH1/intron/;FBH1/non_coding/ 0.9997 0.3435 0.4490 1 dominant HG002 HG002 chr10:6279947:TCA:T 1,.,. 6.58553e-06 0 1 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr10:6279950:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr10:6307340:C:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr10:6331074:A:AGAGGGAGGGG 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.242424,.,. dominant HG002 HG002 chr10:6447204:CGA:C 1,.,. -1 -1 -1 -1 -1 -1 PRKCQ 50_intron 42,.,. 0.52381,.,. PRKCQ/intron/ 0.0106 0.4404 0.5710 1 dominant HG002 HG002 chr10:6447208:A:G 1,.,. -1 -1 -1 -1 -1 -1 PRKCQ 50_intron 41,.,. 0.512195,.,. PRKCQ/intron/ 0.0106 0.4404 0.5710 1 dominant HG002 HG002 chr10:6605951:C:T 1,.,. -1 -1 -1 0.000700771 0 2 PRKCQ-AS1 53_non_coding 43,.,. 0.395349,.,. PRKCQ-AS1/non_coding/ dominant HG002 HG002 chr10:6920966:A:AAAC 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr10:6920967:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.34375,.,. recessive HG002 HG002 chr10:6920968:C:A 2,.,. 6.59874e-06 0 1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr10:7036339:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. recessive HG002 HG002 chr10:7207526:G:A 2,.,. -1 -1 -1 -1 -1 -1 SFMBT2 50_intron 26,.,. 1,.,. SFMBT2/intron/ 0.9999 0.3219 0.4370 1 dominant HG002 HG002 chr10:7476663:AAAAAAT:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr10:7486442:T:TTTA 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr10:7486443:A:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. recessive HG002 HG002 chr10:7505688:GGA:G 2,.,. 0.00101215 0 7 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:7505691:G:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr10:7595346:A:ACT 2,.,. -1 -1 -1 -1 -1 -1 ITIH5 50_intron 35,.,. 1,.,. ITIH5/intron/;ITIH5/non_coding/ 0.0000 0.7469 0.9660 4 recessive HG002 HG002 chr10:7595348:T:C 2,.,. -1 -1 -1 -1 -1 -1 ITIH5 50_intron 35,.,. 1,.,. ITIH5/intron/;ITIH5/non_coding/ 0.0000 0.7469 0.9660 4 dominant HG002 HG002 chr10:7811445:A:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr10:8202391:GGT:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chr10:8224257:T:TATTACAA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr10:8224259:G:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr10:8224260:C:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr10:8297007:C:CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCTCTCTCTCTGTCTCTCTCCCCCACCGCTCTTTCTTTCTGGGGTACAGTGGTGTGCCTCTGGAATAAAGGCCTTAGACCTACAATCAGACAAATTATGTCAGAGAATTTCTTTTCTTTCCTTTTCTTTTATTTTCCCCTCCCTCCCTTCTTTCCTTCT 1,.,. -1 -1 -1 0.00140154 0 4 35,.,. 0.371429,.,. dominant HG002 HG002 chr10:8303801:C:A 1,.,. 8.14916e-06 0 1 -1 -1 -1 38,.,. 0.315789,.,. dominant HG002 HG002 chr10:8303804:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.315789,.,. dominant HG002 HG002 chr10:8303807:G:C 1,.,. 4.26803e-05 0 2 -1 -1 -1 38,.,. 0.315789,.,. dominant HG002 HG002 chr10:8360980:A:ACACT 1,.,. 3.07711e-05 0 2 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr10:8362966:A:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.297297,.,. dominant HG002 HG002 chr10:8738662:GGGCTCAGT:G 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.54,.,. dominant HG002 HG002 chr10:8738673:C:A 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.529412,.,. dominant HG002 HG002 chr10:9046159:T:G 1,.,. 8.41935e-06 0 1 -1 -1 -1 53,.,. 0.45283,.,. dominant HG002 HG002 chr10:9146785:G:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr10:9320919:CTTTCTCTCTCTCTT:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.583333,.,. recessive HG002 HG002 chr10:9356518:T:TGAGCTGAGATTGCAC 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr10:9356520:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr10:9359799:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr10:9407925:T:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.30303,.,. dominant HG002 HG002 chr10:9415466:C:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.702703,.,. dominant HG002 HG002 chr10:9659476:A:G 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.538462,.,. dominant HG002 HG002 chr10:9726016:T:C 1,.,. 1.9714e-05 0 3 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr10:10109441:G:GCA 1,.,. 3.17568e-05 0 3 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr10:10191313:G:GTAGA 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr10:10194986:TGTTTTAC:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr10:10194995:T:A 1,.,. 2.32834e-05 0 2 -1 -1 -1 40,.,. 0.55,.,. recessive HG002 HG002 chr10:10266548:G:A 2,.,. 0.000426148 1 10 0.00105116 0 3 29,.,. 1,.,. dominant HG002 HG002 chr10:10768170:A:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr10:10828793:G:A 1,.,. 6.57091e-06 0 1 -1 -1 -1 CELF2 50_intron 38,.,. 0.421053,.,. CELF2/intron/ 1.0000 0.1628 0.2940 0 Developmental and epileptic encephalopathy 97 0.000 dominant HG002 HG002 chr10:11436454:C:CTCG 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr10:11436458:G:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.575758,.,. dominant HG002 HG002 chr10:11663373:T:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.37931,.,. dominant HG002 HG002 chr10:11682674:T:C 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.526316,.,. recessive HG002 HG002 chr10:11754299:T:C 2,.,. -1 -1 -1 -1 -1 -1 ECHDC3 50_intron 34,.,. 1,.,. ECHDC3/non_coding/;ECHDC3/intron/ 0.0000 1.0575 1.6140 8 dominant HG002 HG002 chr10:11892738:TGTTATTTATTTA:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.357143,.,. dominant HG002 HG002 chr10:11892751:T:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.357143,.,. dominant HG002 HG002 chr10:12034328:T:A 1,.,. -1 -1 -1 -1 -1 -1 UPF2 50_intron 37,.,. 0.513514,.,. UPF2/intron/ 1.0000 0.0997 0.1590 0 dominant HG002 HG002 chr10:12117845:GATCTCCCCTCTCCT:G 1,.,. 0.000216169 0 1 -1 -1 -1 DHTKD1 50_intron 39,.,. 0.384615,.,. DHTKD1/intron/ 0.0000 0.7014 0.8640 3 2-aminoadipic 2-oxoadipic aciduria;Charcot-Marie-Tooth disease axonal type 2Q 0.000 dominant HG002 HG002 chr10:12564151:C:CTCTG 1,.,. 4.24448e-05 0 2 -1 -1 -1 CAMK1D 50_intron 27,.,. 0.407407,.,. CAMK1D/intron/;CAMK1D/non_coding/ 0.9998 0.1945 0.3650 0 recessive HG002 HG002 chr10:12734383:T:G 2,.,. 0.00309917 0 6 -1 -1 -1 CAMK1D 50_intron 33,.,. 1,.,. CAMK1D/intron/ 0.9998 0.1945 0.3650 0 recessive HG002 HG002 chr10:12734387:T:G 2,.,. 0.00621469 2 11 -1 -1 -1 CAMK1D 50_intron 33,.,. 1,.,. CAMK1D/intron/ 0.9998 0.1945 0.3650 0 dominant HG002 HG002 chr10:12971322:G:A 1,.,. -1 -1 -1 -1 -1 -1 CCDC3 50_intron 46,.,. 0.5,.,. CCDC3/intron/ 0.0000 1.3387 1.7900 8 recessive HG002 HG002 chr10:13077638:A:C 2,.,. -1 -1 -1 -1 -1 -1 CCDC3 50_intron 33,.,. 1,.,. CCDC3/intron/ 0.0000 1.3387 1.7900 8 recessive HG002 HG002 chr10:13077639:C:T 2,.,. 0.011391 0 123 -1 -1 -1 CCDC3 50_intron 33,.,. 1,.,. CCDC3/intron/ 0.0000 1.3387 1.7900 8 recessive HG002 HG002 chr10:13077640:A:G 2,.,. 0.000814516 0 123 -1 -1 -1 CCDC3 50_intron 33,.,. 1,.,. CCDC3/intron/ 0.0000 1.3387 1.7900 8 recessive HG002 HG002 chr10:13077641:G:A 2,.,. -1 -1 -1 -1 -1 -1 CCDC3 50_intron 33,.,. 1,.,. CCDC3/intron/ 0.0000 1.3387 1.7900 8 dominant HG002 HG002 chr10:13219473:TAAAC:T 1,.,. 4.55498e-05 0 3 -1 -1 -1 34,.,. 0.294118,.,. dominant HG002 HG002 chr10:13284526:C:A 1,.,. -1 -1 -1 -1 -1 -1 PHYH 50_intron 31,.,. 0.258065,.,. PHYH/intron/ 0.0000 0.7963 1.1470 6 Phytanic acid storage disease 0.000 dominant HG002 HG002 chr10:13433744:A:T 1,.,. 0.000394529 0 3 -1 -1 -1 38,.,. 0.263158,.,. dominant HG002 HG002 chr10:13487381:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 BEND7 50_intron 41,.,. 0.390244,.,. BEND7/intron/ 0.0000 0.6069 0.8420 3 dominant HG002 HG002 chr10:14113612:CT:C 1,.,. 1.31384e-05 0 2 -1 -1 -1 FRMD4A 50_intron 39,.,. 0.538462,.,. FRMD4A/intron/ 0.9981 0.3000 0.4560 1 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 0.000 dominant HG002 HG002 chr10:14137825:T:C 1,.,. -1 -1 -1 -1 -1 -1 FRMD4A 50_intron 27,.,. 0.407407,.,. FRMD4A/intron/ 0.9981 0.3000 0.4560 1 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 0.000 dominant HG002 HG002 chr10:15022433:C:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.6,.,. dominant HG002 HG002 chr10:15256015:G:A 1,.,. 2.62733e-05 0 4 -1 -1 -1 FAM171A1 50_intron 29,.,. 0.448276,.,. FAM171A1/intron/ 0.9995 0.3146 0.4460 1 dominant HG002 HG002 chr10:15613190:TAAATAAATAAATAAAC:T 1,.,. 0.000106621 0 2 -1 -1 -1 ITGA8 50_intron 34,.,. 0.588235,.,. ITGA8/intron/;ITGA8/non_coding/ 0.0000 0.6445 0.8010 3 Renal hypodysplasia/aplasia 1 0.000 dominant HG002 HG002 chr10:15625462:G:T 1,.,. -1 -1 -1 -1 -1 -1 ITGA8 50_intron 38,.,. 0.578947,.,. ITGA8/intron/;ITGA8/non_coding/ 0.0000 0.6445 0.8010 3 Renal hypodysplasia/aplasia 1 0.000 dominant HG002 HG002 chr10:15625464:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 ITGA8 50_intron 38,.,. 0.578947,.,. ITGA8/intron/;ITGA8/non_coding/ 0.0000 0.6445 0.8010 3 Renal hypodysplasia/aplasia 1 0.000 dominant HG002 HG002 chr10:15625467:C:G 1,.,. -1 -1 -1 -1 -1 -1 ITGA8 50_intron 38,.,. 0.578947,.,. ITGA8/intron/;ITGA8/non_coding/ 0.0000 0.6445 0.8010 3 Renal hypodysplasia/aplasia 1 0.000 dominant HG002 HG002 chr10:15981707:C:CTGAGAAT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr10:15981708:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr10:16097263:A:T 1,.,. 3.52734e-05 0 1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr10:16097264:T:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr10:16425569:CTGATA:C 1,.,. 1.31447e-05 0 2 -1 -1 -1 26,.,. 0.384615,.,. dominant HG002 HG002 chr10:16649854:T:G 1,.,. -1 -1 -1 -1 -1 -1 RSU1 50_intron 31,.,. 0.580645,.,. RSU1/intron/;RSU1/non_coding/ 0.0006 0.6631 1.0370 5 dominant HG002 HG002 chr10:16649855:A:C 1,.,. -1 -1 -1 -1 -1 -1 RSU1 50_intron 31,.,. 0.580645,.,. RSU1/intron/;RSU1/non_coding/ 0.0006 0.6631 1.0370 5 dominant HG002 HG002 chr10:16649856:C:A 1,.,. -1 -1 -1 -1 -1 -1 RSU1 50_intron 31,.,. 0.580645,.,. RSU1/intron/;RSU1/non_coding/ 0.0006 0.6631 1.0370 5 dominant HG002 HG002 chr10:16649857:A:G 1,.,. -1 -1 -1 -1 -1 -1 RSU1 50_intron 31,.,. 0.580645,.,. RSU1/intron/;RSU1/non_coding/ 0.0006 0.6631 1.0370 5 dominant HG002 HG002 chr10:17193311:CAAGATT:C 1,.,. -1 -1 -1 -1 -1 -1 TRDMT1 50_intron 48,.,. 0.520833,.,. TRDMT1/intron/;TRDMT1/non_coding/ 0.0000 1.0594 1.4370 7 dominant HG002 HG002 chr10:17193322:C:A 1,.,. 2.55506e-05 0 2 -1 -1 -1 TRDMT1 50_intron 47,.,. 0.531915,.,. TRDMT1/intron/;TRDMT1/non_coding/ 0.0000 1.0594 1.4370 7 dominant HG002 HG002 chr10:17193324:CTGCACTCCA:C 1,.,. -1 -1 -1 -1 -1 -1 TRDMT1 50_intron 47,.,. 0.531915,.,. TRDMT1/intron/;TRDMT1/non_coding/ 0.0000 1.0594 1.4370 7 dominant HG002 HG002 chr10:17295642:GGAT:G 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.583333,.,. dominant HG002 HG002 chr10:17348352:G:A 1,.,. -1 -1 -1 -1 -1 -1 ST8SIA6 50_intron 34,.,. 0.470588,.,. ST8SIA6/intron/ 0.0000 1.2428 1.6930 8 dominant HG002 HG002 chr10:17386174:G:C 1,.,. -1 -1 -1 -1 -1 -1 ST8SIA6 50_intron 39,.,. 0.512821,.,. ST8SIA6/intron/ 0.0000 1.2428 1.6930 8 dominant HG002 HG002 chr10:17386176:C:G 1,.,. -1 -1 -1 -1 -1 -1 ST8SIA6 50_intron 39,.,. 0.512821,.,. ST8SIA6/intron/ 0.0000 1.2428 1.6930 8 dominant HG002 HG002 chr10:17774033:G:T 1,.,. 9.91886e-06 0 1 -1 -1 -1 TMEM236 50_intron 46,.,. 0.478261,.,. TMEM236/intron/ 0.0010 0.6994 1.1330 6 dominant HG002 HG002 chr10:18092793:A:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.621622,.,. dominant HG002 HG002 chr10:18475692:A:T 1,.,. -1 -1 -1 -1 -1 -1 CACNB2 50_intron 43,.,. 0.302326,.,. CACNB2/intron/;CACNB2/non_coding/ 0.0000 0.5707 0.7700 3 Brugada syndrome 4 0.000 dominant HG002 HG002 chr10:18606390:T:C 1,.,. -1 -1 -1 -1 -1 -1 NSUN6 50_intron 38,.,. 0.342105,.,. NSUN6/intron/ 0.0000 1.0218 1.5460 8 Intellectual developmental disorder, autosomal recessive 82 dominant HG002 HG002 chr10:18620103:TTTG:T 1,.,. -1 -1 -1 -1 -1 -1 NSUN6 50_intron 36,.,. 0.361111,.,. NSUN6/intron/ 0.0000 1.0218 1.5460 8 Intellectual developmental disorder, autosomal recessive 82 dominant HG002 HG002 chr10:18796878:C:T 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.431034,.,. recessive HG002 HG002 chr10:18943274:TTTACA:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:18943280:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr10:19148788:A:T 2,.,. -1 -1 -1 0.0283812 4 81 MALRD1 50_intron 27,.,. 1,.,. MALRD1/intron/ 0.0000 1.0075 1.1350 6 recessive HG002 HG002 chr10:19359774:T:A 2,.,. 0.00661123 0 159 -1 -1 -1 MALRD1 50_intron 32,.,. 1,.,. MALRD1/intron/ 0.0000 1.0075 1.1350 6 recessive HG002 HG002 chr10:19532746:T:TATGAGA 2,.,. -1 -1 -1 -1 -1 -1 MALRD1 50_intron 57,.,. 1,.,. MALRD1/intron/ 0.0000 1.0075 1.1350 6 dominant HG002 HG002 chr10:19539860:G:T 1,.,. 0.000111359 0 4 -1 -1 -1 MALRD1 50_intron 51,.,. 0.431373,.,. MALRD1/intron/ 0.0000 1.0075 1.1350 6 dominant HG002 HG002 chr10:19716833:T:G 1,.,. -1 -1 -1 -1 -1 -1 MALRD1 50_intron 33,.,. 0.454545,.,. MALRD1/intron/;MALRD1/non_coding/ 0.0000 1.0075 1.1350 6 dominant HG002 HG002 chr10:19747679:C:CAAA 1,.,. -1 -1 -1 -1 -1 -1 MALRD1 53_non_coding 35,.,. 0.542857,.,. MALRD1/non_coding/ 0.0000 1.0075 1.1350 6 dominant HG002 HG002 chr10:19747680:C:T 1,.,. -1 -1 -1 -1 -1 -1 MALRD1 53_non_coding 35,.,. 0.542857,.,. MALRD1/non_coding/ 0.0000 1.0075 1.1350 6 dominant HG002 HG002 chr10:19747681:T:A 1,.,. -1 -1 -1 -1 -1 -1 MALRD1 53_non_coding 35,.,. 0.542857,.,. MALRD1/non_coding/ 0.0000 1.0075 1.1350 6 dominant HG002 HG002 chr10:20467354:A:G 1,.,. 6.57678e-06 0 1 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr10:20527418:G:A 1,.,. -1 -1 -1 0.00105116 0 3 46,.,. 0.543478,.,. dominant HG002 HG002 chr10:20748182:G:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr10:21689050:C:T 1,.,. 1.31489e-05 0 2 -1 -1 -1 MLLT10 50_intron 44,.,. 0.545455,.,. MLLT10/intron/;MLLT10/non_coding/ 1.0000 0.1980 0.2910 0 0.000 dominant HG002 HG002 chr10:22536965:CCAA:C 1,.,. -1 -1 -1 -1 -1 -1 PIP4K2A 36_3_prime_utr 36,.,. 0.611111,.,. PIP4K2A/3_prime_utr/ENST00000376573;PIP4K2A/3_prime_utr/ENST00000323883 0.7424 0.3451 0.6230 2 dominant HG002 HG002 chr10:22536969:C:A 1,.,. -1 -1 -1 -1 -1 -1 PIP4K2A 36_3_prime_utr 39,.,. 0.641026,.,. PIP4K2A/3_prime_utr/ENST00000376573;PIP4K2A/3_prime_utr/ENST00000323883 0.7424 0.3451 0.6230 2 dominant HG002 HG002 chr10:22648063:T:C 1,.,. 1.97086e-05 0 3 -1 -1 -1 PIP4K2A 50_intron 30,.,. 0.2,.,. PIP4K2A/intron/;PIP4K2A/non_coding/ 0.7424 0.3451 0.6230 2 dominant HG002 HG002 chr10:22797185:A:G 1,.,. 7.41433e-06 0 1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr10:22914488:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr10:23341784:C:T 1,.,. 6.57289e-06 0 1 -1 -1 -1 C10orf67 50_intron 33,.,. 0.515152,.,. C10orf67/intron/ 0.0000 1.4243 1.8870 9 dominant HG002 HG002 chr10:23491461:C:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr10:24359084:T:C 1,.,. -1 -1 -1 -1 -1 -1 KIAA1217 50_intron 32,.,. 0.53125,.,. KIAA1217/intron/ 0.0000 0.5159 0.6200 2 dominant HG002 HG002 chr10:24569192:CTTGCAG:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.577778,.,. recessive HG002 HG002 chr10:24687127:G:GATCGC 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP21 50_intron 29,.,. 1,.,. ARHGAP21/intron/;ARHGAP21/non_coding/ 1.0000 0.1883 0.2610 0 recessive HG002 HG002 chr10:24687128:G:T 2,.,. 5.93934e-05 0 9 -1 -1 -1 ARHGAP21 50_intron 29,.,. 1,.,. ARHGAP21/intron/;ARHGAP21/non_coding/ 1.0000 0.1883 0.2610 0 dominant HG002 HG002 chr10:25426978:TTAGA:T 1,.,. -1 -1 -1 -1 -1 -1 GPR158 50_intron 44,.,. 0.409091,.,. GPR158/intron/ 0.0048 0.4828 0.6790 2 dominant HG002 HG002 chr10:25426985:G:T 1,.,. -1 -1 -1 -1 -1 -1 GPR158 50_intron 44,.,. 0.431818,.,. GPR158/intron/ 0.0048 0.4828 0.6790 2 dominant HG002 HG002 chr10:25722748:G:GAAC 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr10:25722754:C:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr10:25995098:AGAGTG:A 1,.,. -1 -1 -1 -1 -1 -1 MYO3A 50_intron 39,.,. 0.589744,.,. MYO3A/intron/;MYO3A/non_coding/ 0.0000 0.8972 1.0250 5 Hearing loss, autosomal dominant 90;Autosomal recessive nonsyndromic hearing loss 30 0.000 dominant HG002 HG002 chr10:25995104:T:A 1,.,. -1 -1 -1 -1 -1 -1 MYO3A 50_intron 39,.,. 0.564103,.,. MYO3A/intron/;MYO3A/non_coding/ 0.0000 0.8972 1.0250 5 Hearing loss, autosomal dominant 90;Autosomal recessive nonsyndromic hearing loss 30 0.000 dominant HG002 HG002 chr10:26060562:C:A 1,.,. -1 -1 -1 -1 -1 -1 MYO3A 50_intron 41,.,. 0.365854,.,. MYO3A/intron/;MYO3A/non_coding/ 0.0000 0.8972 1.0250 5 Hearing loss, autosomal dominant 90;Autosomal recessive nonsyndromic hearing loss 30 0.000 dominant HG002 HG002 chr10:26060564:A:C 1,.,. -1 -1 -1 -1 -1 -1 MYO3A 50_intron 41,.,. 0.365854,.,. MYO3A/intron/;MYO3A/non_coding/ 0.0000 0.8972 1.0250 5 Hearing loss, autosomal dominant 90;Autosomal recessive nonsyndromic hearing loss 30 0.000 dominant HG002 HG002 chr10:26589231:A:AC 1,.,. -1 -1 -1 0.00105116 0 3 AL160287.1 53_non_coding 44,.,. 0.477273,.,. AL160287.1/non_coding/ dominant HG002 HG002 chr10:26589232:T:C 1,.,. -1 -1 -1 0.00105116 0 3 AL160287.1 53_non_coding 44,.,. 0.477273,.,. AL160287.1/non_coding/ dominant HG002 HG002 chr10:26589233:G:C 1,.,. -1 -1 -1 0.00105116 0 3 AL160287.1 53_non_coding 45,.,. 0.488889,.,. AL160287.1/non_coding/ dominant HG002 HG002 chr10:26673252:G:A 1,.,. -1 -1 -1 -1 -1 -1 SELENOOLP 53_non_coding 33,.,. 0.575758,.,. SELENOOLP/non_coding/ dominant HG002 HG002 chr10:26934001:CTCTCTTT:C 1,.,. -1 -1 -1 0.00105116 0 3 FAM238C 53_non_coding 24,.,. 0.458333,.,. FAM238C/non_coding/ dominant HG002 HG002 chr10:27275688:A:C 1,.,. -1 -1 -1 -1 -1 -1 ARMC4P1 53_non_coding 49,.,. 0.346939,.,. ARMC4P1/non_coding/ recessive HG002 HG002 chr10:27314231:A:T 2,.,. -1 -1 -1 -1 -1 -1 AL355493.3 53_non_coding 29,.,. 1,.,. AL355493.3/non_coding/ recessive HG002 HG002 chr10:27314233:A:AAAATTC 2,.,. -1 -1 -1 -1 -1 -1 AL355493.3 53_non_coding 29,.,. 1,.,. AL355493.3/non_coding/ dominant HG002 HG002 chr10:27347294:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr10:27347298:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. recessive HG002 HG002 chr10:27882173:A:G 2,.,. -1 -1 -1 0.0248774 2 71 ARMC4 50_intron 28,.,. 1,.,. ARMC4/intron/ dominant HG002 HG002 chr10:28181540:TATTATC:T 1,.,. -1 -1 -1 -1 -1 -1 MPP7 50_intron 27,.,. 0.37037,.,. MPP7/intron/;MPP7/non_coding/ 0.0000 0.7443 0.9690 4 dominant HG002 HG002 chr10:28181548:T:A 1,.,. -1 -1 -1 -1 -1 -1 MPP7 50_intron 27,.,. 0.37037,.,. MPP7/intron/;MPP7/non_coding/ 0.0000 0.7443 0.9690 4 dominant HG002 HG002 chr10:28181550:C:T 1,.,. -1 -1 -1 -1 -1 -1 MPP7 50_intron 27,.,. 0.37037,.,. MPP7/intron/;MPP7/non_coding/ 0.0000 0.7443 0.9690 4 dominant HG002 HG002 chr10:28181551:C:G 1,.,. -1 -1 -1 -1 -1 -1 MPP7 50_intron 27,.,. 0.37037,.,. MPP7/intron/;MPP7/non_coding/ 0.0000 0.7443 0.9690 4 dominant HG002 HG002 chr10:28339071:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 ZNF101P1 53_non_coding 34,.,. 0.5,.,. ZNF101P1/non_coding/ dominant HG002 HG002 chr10:28711502:GCA:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr10:28711506:T:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr10:28902030:G:T 1,.,. -1 -1 -1 0.00140154 0 4 34,.,. 0.382353,.,. recessive HG002 HG002 chr10:29003240:TTA:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr10:29003243:T:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr10:29938540:C:CTACTTT 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr10:29938543:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr10:30349355:G:GGGA 1,.,. -1 -1 -1 -1 -1 -1 MTPAP 53_non_coding 29,.,. 0.413793,.,. MTPAP/non_coding/ 0.0282 0.4524 0.6410 2 Spastic ataxia 4 0.000 dominant HG002 HG002 chr10:30557204:C:T 1,.,. 1.32261e-05 0 2 -1 -1 -1 28,.,. 0.607143,.,. recessive HG002 HG002 chr10:30716049:A:G 2,.,. 3.69113e-05 0 1 -1 -1 -1 SVIL2P 53_non_coding 29,.,. 1,.,. SVIL2P/non_coding/ dominant HG002 HG002 chr10:30954922:G:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF438 50_intron 50,.,. 0.38,.,. ZNF438/intron/ 0.0000 0.6222 0.8820 4 dominant HG002 HG002 chr10:31098931:AGTCATGAAGTCTT:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr10:31098945:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr10:32092441:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr10:32092444:T:C 1,.,. -1 -1 -1 0.000700771 0 2 23,.,. 0.73913,.,. dominant HG002 HG002 chr10:32145462:C:CTTTA 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. recessive HG002 HG002 chr10:32299565:T:C 2,.,. 0.000627054 0 87 0.00175193 0 5 EPC1 50_intron 30,.,. 1,.,. EPC1/intron/;EPC1/non_coding/ 1.0000 0.1412 0.2290 0 recessive HG002 HG002 chr10:32476376:G:C 2,.,. -1 -1 -1 -1 -1 -1 CCDC7 50_intron 44,.,. 1,.,. CCDC7/intron/ 0.0000 0.9182 1.1070 6 dominant HG002 HG002 chr10:32858055:T:TTGAATCAGGAAG 1,.,. -1 -1 -1 -1 -1 -1 CCDC7 50_intron 51,.,. 0.627451,.,. CCDC7/intron/;CCDC7/non_coding/ 0.0000 0.9182 1.1070 6 dominant HG002 HG002 chr10:32858058:G:A 1,.,. -1 -1 -1 -1 -1 -1 CCDC7 50_intron 52,.,. 0.634615,.,. CCDC7/intron/;CCDC7/non_coding/ 0.0000 0.9182 1.1070 6 dominant HG002 HG002 chr10:32858059:C:T 1,.,. -1 -1 -1 -1 -1 -1 CCDC7 50_intron 52,.,. 0.634615,.,. CCDC7/intron/;CCDC7/non_coding/ 0.0000 0.9182 1.1070 6 dominant HG002 HG002 chr10:32858060:T:C 1,.,. -1 -1 -1 -1 -1 -1 CCDC7 50_intron 52,.,. 0.634615,.,. CCDC7/intron/;CCDC7/non_coding/ 0.0000 0.9182 1.1070 6 dominant HG002 HG002 chr10:33112801:ATATTCATTCATTT:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr10:33363170:T:C 1,.,. 1.97039e-05 0 3 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr10:33467261:C:T 1,.,. 6.57704e-06 0 1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr10:33923241:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr10:34007035:C:T 1,.,. 2.6286e-05 0 4 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr10:34179164:G:GCGCA 1,.,. -1 -1 -1 -1 -1 -1 PARD3 50_intron 37,.,. 0.432432,.,. PARD3/intron/ 0.0000 0.4892 0.6100 2 dominant HG002 HG002 chr10:34554020:A:G 1,.,. -1 -1 -1 -1 -1 -1 PARD3 50_intron 42,.,. 0.47619,.,. PARD3/intron/ 0.0000 0.4892 0.6100 2 dominant HG002 HG002 chr10:34813289:AGAGTGCATATTACT:A 1,.,. -1 -1 -1 -1 -1 -1 PARD3 50_intron 22,.,. 0.409091,.,. PARD3/intron/ 0.0000 0.4892 0.6100 2 dominant HG002 HG002 chr10:34813304:T:A 1,.,. -1 -1 -1 -1 -1 -1 PARD3 50_intron 21,.,. 0.428571,.,. PARD3/intron/ 0.0000 0.4892 0.6100 2 dominant HG002 HG002 chr10:34960389:C:T 1,.,. -1 -1 -1 0.00105116 0 3 32,.,. 0.34375,.,. dominant HG002 HG002 chr10:34962497:T:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.354839,.,. recessive HG002 HG002 chr10:35030821:A:AGGATC 2,.,. -1 -1 -1 -1 -1 -1 CUL2 50_intron 31,.,. 1,.,. CUL2/intron/ 1.0000 0.1622 0.3050 0 recessive HG002 HG002 chr10:35030823:T:C 2,.,. -1 -1 -1 -1 -1 -1 CUL2 50_intron 29,.,. 1,.,. CUL2/intron/ 1.0000 0.1622 0.3050 0 recessive HG002 HG002 chr10:35092891:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr10:35092892:T:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr10:35092893:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr10:35410843:A:G 1,.,. 1.31447e-05 0 2 -1 -1 -1 CCNY 50_intron 35,.,. 0.685714,.,. CCNY/intron/;CCNY/non_coding/ 0.0287 0.4868 0.7610 3 dominant HG002 HG002 chr10:35683304:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr10:35742156:C:A 1,.,. 1.97319e-05 0 3 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr10:36125112:ACAAT:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr10:36125118:A:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr10:36244247:TCTAC:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr10:36244252:C:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. recessive HG002 HG002 chr10:36403006:T:G 2,.,. 0.000354633 1 54 0.000700771 0 2 32,.,. 1,.,. recessive HG002 HG002 chr10:36432999:C:T 2,.,. 0.000552501 1 84 0.00105116 0 3 MTND5P17 53_non_coding 30,.,. 1,.,. MTND5P17/non_coding/ dominant HG002 HG002 chr10:36439762:T:G 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.5,.,. recessive HG002 HG002 chr10:36447346:CTTT:C 2,.,. -1 -1 -1 0.0234758 3 67 18,.,. 1,.,. dominant HG002 HG002 chr10:36543022:C:CCA 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. recessive HG002 HG002 chr10:36559075:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr10:36752354:G:T 2,.,. 0.00018026 1 26 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr10:37054833:G:A 2,.,. 0.00162526 2 244 0.00210231 0 6 35,.,. 1,.,. dominant HG002 HG002 chr10:37063138:GCCACTTTTA:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr10:37063149:G:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr10:37111332:A:ACT 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.304348,.,. dominant HG002 HG002 chr10:37232683:T:A 1,.,. -1 -1 -1 -1 -1 -1 ANKRD30A 50_intron 44,.,. 0.477273,.,. ANKRD30A/intron/ 0.0000 1.1147 1.2950 7 dominant HG002 HG002 chr10:38431636:C:T 1,.,. -1 -1 -1 -1 -1 -1 AL133216.2 53_non_coding 49,.,. 0.55102,.,. AL133216.2/non_coding/ recessive HG002 HG002 chr10:38573463:A:G 2,.,. -1 -1 -1 0.00105116 1 3 17,.,. 1,.,. recessive HG002 HG002 chr10:38594493:T:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chr10:38763124:T:TGAAG 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. recessive HG002 HG002 chr10:38785250:CTCCATTCCAT:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:38785269:G:T 2,.,. 0.000455539 0 10 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:38791533:C:A 2,.,. -1 -1 -1 0.000700771 0 2 30,.,. 1,.,. recessive HG002 HG002 chr10:38832018:G:A 2,.,. 4.65444e-05 0 7 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr10:38861972:T:TGGAATGGAAA 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr10:38861982:A:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chr10:38869349:G:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.47619,.,. dominant HG002 HG002 chr10:38994164:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. recessive HG002 HG002 chr10:39268220:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr10:39268221:A:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr10:39392799:T:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr10:39392800:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr10:39392801:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr10:39532828:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr10:39532831:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr10:40054857:G:A 2,.,. -1 -1 -1 0.00385424 3 11 10,.,. 1,.,. recessive HG002 HG002 chr10:40055255:C:G 2,.,. -1 -1 -1 0.00210231 2 6 7,.,. 1,.,. recessive HG002 HG002 chr10:40055304:T:A 2,.,. -1 -1 -1 0.00420463 3 12 7,.,. 1,.,. recessive HG002 HG002 chr10:40055723:C:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr10:40056147:C:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr10:40056215:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr10:40057482:C:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:40110874:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr10:40110959:A:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr10:40110981:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr10:40127165:C:T 2,.,. -1 -1 -1 0.00140154 2 4 7,.,. 1,.,. recessive HG002 HG002 chr10:40130567:C:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr10:40137417:C:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr10:40143115:G:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr10:40143127:C:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr10:40143202:G:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr10:40145239:T:G 2,.,. -1 -1 -1 0.00280308 4 8 6,.,. 1,.,. recessive HG002 HG002 chr10:40145827:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr10:40146927:G:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr10:40151679:G:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr10:40184212:G:C 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr10:40184224:C:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr10:40188286:G:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr10:40188298:C:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr10:40192046:C:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr10:40192065:A:G 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr10:40195835:C:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:40208293:G:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr10:40208615:G:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr10:40295672:C:G 2,.,. -1 -1 -1 0.00385424 3 11 47,.,. 1,.,. recessive HG002 HG002 chr10:40296140:C:G 2,.,. -1 -1 -1 0.00140154 2 4 49,.,. 1,.,. recessive HG002 HG002 chr10:40297498:C:G 2,.,. -1 -1 -1 0.00700771 4 20 43,.,. 1,.,. recessive HG002 HG002 chr10:40297899:C:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:40298176:G:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr10:40327488:C:T 2,.,. -1 -1 -1 0.00210231 3 6 10,.,. 1,.,. recessive HG002 HG002 chr10:40328546:C:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr10:40335666:C:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr10:40379439:T:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.981132,.,. recessive HG002 HG002 chr10:40383617:A:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr10:40384860:C:A 2,.,. -1 -1 -1 -1 -1 -1 172,.,. 1,.,. recessive HG002 HG002 chr10:40388011:T:G 2,.,. -1 -1 -1 -1 -1 -1 340,.,. 1,.,. recessive HG002 HG002 chr10:40419595:C:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr10:40453144:C:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr10:40453721:T:C 2,.,. -1 -1 -1 0.00210231 2 6 12,.,. 1,.,. recessive HG002 HG002 chr10:40455080:T:C 2,.,. -1 -1 -1 0.00140154 2 4 18,.,. 1,.,. recessive HG002 HG002 chr10:40492197:C:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr10:40494665:C:T 2,.,. -1 -1 -1 0.00280308 4 8 15,.,. 1,.,. recessive HG002 HG002 chr10:40515909:G:A 2,.,. -1 -1 -1 0.00315347 4 9 36,.,. 1,.,. recessive HG002 HG002 chr10:40523006:T:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr10:40523261:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr10:40526008:AT:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr10:40539883:C:G 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr10:40550051:G:A 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 1,.,. recessive HG002 HG002 chr10:40558553:C:G 2,.,. -1 -1 -1 0.00210231 0 6 25,.,. 1,.,. recessive HG002 HG002 chr10:40559168:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr10:40560257:A:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr10:40565604:T:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr10:40565619:C:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr10:40566150:G:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr10:40605739:T:G 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 0.985646,.,. recessive HG002 HG002 chr10:40616317:A:G 2,.,. -1 -1 -1 -1 -1 -1 121,.,. 0.991736,.,. recessive HG002 HG002 chr10:40616319:G:A 2,.,. -1 -1 -1 -1 -1 -1 121,.,. 0.991736,.,. recessive HG002 HG002 chr10:40616320:T:G 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr10:40622360:C:G 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr10:40626774:C:G 2,.,. -1 -1 -1 0.00210231 1 6 23,.,. 1,.,. recessive HG002 HG002 chr10:40626785:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:40628472:C:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr10:40638658:C:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr10:40638669:T:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr10:40639687:T:G 2,.,. -1 -1 -1 0.00210231 3 6 52,.,. 1,.,. recessive HG002 HG002 chr10:40639699:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr10:40657336:C:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr10:40675335:C:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr10:40675346:T:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:40677370:C:G 2,.,. -1 -1 -1 0.00280308 4 8 28,.,. 1,.,. recessive HG002 HG002 chr10:40684509:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr10:40778502:C:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr10:40791385:G:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr10:40791476:C:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr10:40791487:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr10:40791751:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr10:40810835:C:G 2,.,. -1 -1 -1 0.00210231 3 6 12,.,. 1,.,. recessive HG002 HG002 chr10:40815470:T:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr10:40815585:C:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr10:40829517:T:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:40836647:T:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr10:40836654:A:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr10:40836669:C:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:40840542:T:A 2,.,. -1 -1 -1 0.00210231 3 6 25,.,. 1,.,. recessive HG002 HG002 chr10:40842817:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:40842819:G:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:40843742:C:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:40843769:C:G 2,.,. -1 -1 -1 0.00210231 3 6 33,.,. 1,.,. recessive HG002 HG002 chr10:40843780:T:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:40852190:C:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr10:40881015:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr10:40881101:C:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr10:40881124:C:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr10:40930487:C:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr10:40930765:G:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr10:40944071:T:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr10:40953574:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr10:40954395:T:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr10:40969469:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:40980401:C:G 2,.,. -1 -1 -1 0.00140154 2 4 17,.,. 1,.,. recessive HG002 HG002 chr10:40983368:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:40983369:A:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:40983373:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:40983459:C:G 2,.,. -1 -1 -1 0.00140154 2 4 19,.,. 1,.,. recessive HG002 HG002 chr10:40983470:T:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:40983476:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:40983482:C:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:40983734:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr10:40985379:C:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr10:40993651:C:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr10:41000799:T:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr10:41001851:C:T 2,.,. -1 -1 -1 0.00280308 4 8 12,.,. 1,.,. recessive HG002 HG002 chr10:41008929:C:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr10:41011654:T:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr10:41021433:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr10:41026940:T:G 2,.,. -1 -1 -1 0.00210231 3 6 11,.,. 1,.,. recessive HG002 HG002 chr10:41037457:C:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr10:41037468:T:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr10:41041545:T:G 2,.,. -1 -1 -1 0.00140154 2 4 9,.,. 1,.,. recessive HG002 HG002 chr10:41045544:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr10:41061013:G:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr10:41061022:G:T 2,.,. -1 -1 -1 0.00140154 1 4 6,.,. 1,.,. recessive HG002 HG002 chr10:41064958:C:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr10:41064969:T:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr10:41070389:C:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr10:41073042:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr10:41074062:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr10:41076855:T:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr10:41087374:C:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr10:41141840:T:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr10:41141975:G:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr10:41142008:T:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr10:41142730:C:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr10:41145785:C:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41146048:G:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41146060:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41147080:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41148089:G:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr10:41148122:T:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr10:41157336:C:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:41157347:T:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:41159585:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41159598:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41159606:G:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41161751:C:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr10:41169566:C:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr10:41171881:C:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr10:41181451:C:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr10:41182468:C:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr10:41189919:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr10:41189922:A:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr10:41189940:G:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr10:41189941:C:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr10:41189952:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr10:41207601:C:G 2,.,. -1 -1 -1 0.00280308 4 8 15,.,. 1,.,. recessive HG002 HG002 chr10:41207612:T:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr10:41207619:A:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr10:41207650:T:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr10:41252786:A:T 2,.,. -1 -1 -1 0.00210231 3 6 6,.,. 1,.,. recessive HG002 HG002 chr10:41252797:T:A 2,.,. -1 -1 -1 0.00280308 4 8 6,.,. 1,.,. recessive HG002 HG002 chr10:41253040:T:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr10:41254606:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr10:41259927:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr10:41269086:C:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr10:41269097:T:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr10:41295596:T:G 2,.,. -1 -1 -1 0.00140154 2 4 21,.,. 1,.,. recessive HG002 HG002 chr10:41296940:C:G 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr10:41296951:T:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr10:41296963:C:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr10:41299998:C:G 2,.,. -1 -1 -1 0.00210231 3 6 34,.,. 1,.,. recessive HG002 HG002 chr10:41300001:G:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:41300012:C:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:41300015:T:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:41300021:C:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:41310118:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:41310151:C:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:41310211:C:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:41314531:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr10:41316987:T:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:41317996:C:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41318010:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41318013:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41318019:C:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41318042:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41318923:G:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr10:41318924:A:C 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr10:41319060:C:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr10:41334118:G:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:41335596:C:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:41336617:C:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr10:41337116:T:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr10:41337269:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr10:41337270:A:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr10:41337273:A:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr10:41337274:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr10:41337359:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr10:41337364:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:41337366:A:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr10:41337372:C:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr10:41337374:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr10:41337377:T:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr10:41337406:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr10:41337623:G:C 2,.,. -1 -1 -1 0.00140154 2 4 36,.,. 1,.,. recessive HG002 HG002 chr10:41337635:C:T 2,.,. -1 -1 -1 0.00140154 2 4 36,.,. 1,.,. recessive HG002 HG002 chr10:41337656:T:C 2,.,. -1 -1 -1 0.00140154 2 4 35,.,. 1,.,. recessive HG002 HG002 chr10:41339660:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr10:41340693:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:41341436:C:G 2,.,. -1 -1 -1 0.0024527 2 7 40,.,. 1,.,. recessive HG002 HG002 chr10:41341447:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr10:41341454:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr10:41341699:G:C 2,.,. -1 -1 -1 0.00210231 3 6 41,.,. 1,.,. recessive HG002 HG002 chr10:41341711:C:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr10:41341817:AT:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr10:41342288:G:C 2,.,. -1 -1 -1 0.00210231 3 6 40,.,. 1,.,. recessive HG002 HG002 chr10:41342731:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr10:41343482:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr10:41343736:T:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:41343739:G:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr10:41343751:C:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:41343772:T:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr10:41343826:G:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr10:41344035:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr10:41344061:C:T 2,.,. -1 -1 -1 0.00280308 4 8 38,.,. 1,.,. recessive HG002 HG002 chr10:41344494:C:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr10:41344512:A:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr10:41345045:C:T 2,.,. -1 -1 -1 0.00280308 4 8 35,.,. 1,.,. recessive HG002 HG002 chr10:41345295:C:T 2,.,. -1 -1 -1 0.00280308 4 8 32,.,. 1,.,. recessive HG002 HG002 chr10:41345312:T:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr10:41346348:G:T 2,.,. -1 -1 -1 0.00140154 2 4 33,.,. 1,.,. recessive HG002 HG002 chr10:41346359:T:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:41346402:T:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr10:41346498:A:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:41346610:A:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:41346612:A:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:41346646:G:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:41346751:A:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:41346813:C:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:41347020:T:A 2,.,. -1 -1 -1 0.0262789 3 75 34,.,. 1,.,. recessive HG002 HG002 chr10:41347263:T:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:41347811:T:C 2,.,. -1 -1 -1 0.00140154 2 4 31,.,. 1,.,. recessive HG002 HG002 chr10:41347814:G:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr10:41347826:C:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr10:41347847:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr10:41347895:A:T 2,.,. -1 -1 -1 0.00280308 4 8 30,.,. 1,.,. recessive HG002 HG002 chr10:41347898:C:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr10:41347901:G:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr10:41347937:T:C 2,.,. -1 -1 -1 0.00210231 3 6 30,.,. 1,.,. recessive HG002 HG002 chr10:41348385:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr10:41348387:G:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr10:41348867:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr10:41348918:C:G 2,.,. -1 -1 -1 0.00140154 2 4 30,.,. 1,.,. recessive HG002 HG002 chr10:41348921:G:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr10:41348952:AT:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr10:41350077:T:A 2,.,. -1 -1 -1 0.00385424 4 11 27,.,. 1,.,. recessive HG002 HG002 chr10:41351888:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr10:41352157:C:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr10:41352180:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr10:41354343:C:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr10:41354354:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr10:41377100:C:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr10:41377111:T:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr10:41378117:C:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41378128:T:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41379138:G:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41379141:A:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41379142:A:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41379146:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41379147:C:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41379149:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41379152:T:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41379158:C:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41381173:C:G 2,.,. -1 -1 -1 0.00210231 3 6 22,.,. 1,.,. recessive HG002 HG002 chr10:41384509:C:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr10:41387186:G:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr10:41390244:G:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr10:41390248:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr10:41391370:C:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:41392662:C:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr10:41400363:G:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr10:41401563:C:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr10:41401574:T:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr10:41411481:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr10:41411482:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr10:41411483:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr10:41411690:C:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:41413701:A:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr10:41413702:C:T 2,.,. -1 -1 -1 0.00140154 0 4 31,.,. 1,.,. recessive HG002 HG002 chr10:41413751:C:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr10:41413769:A:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr10:41413787:G:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr10:41413788:C:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr10:41413795:A:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr10:41413799:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr10:41413800:C:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr10:41415157:T:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr10:41420150:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr10:41420151:A:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr10:41420154:A:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr10:41420155:C:T 2,.,. -1 -1 -1 0.00105116 0 3 16,.,. 1,.,. recessive HG002 HG002 chr10:41420241:C:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr10:41420518:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41421261:C:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41421272:T:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr10:41422151:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41431039:T:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:41431042:G:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41431054:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41431075:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41431129:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:41432074:C:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr10:41433080:T:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr10:41433083:G:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr10:41433095:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41433098:G:A 2,.,. -1 -1 -1 0.00175193 2 5 21,.,. 1,.,. recessive HG002 HG002 chr10:41433627:G:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr10:41434856:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41435665:G:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr10:41435855:T:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr10:41435877:C:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr10:41435888:T:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr10:41436709:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41436713:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:41436724:T:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr10:41438819:T:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr10:41438827:G:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr10:41442331:C:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:41442342:T:G 2,.,. -1 -1 -1 0.00140154 2 4 19,.,. 1,.,. recessive HG002 HG002 chr10:41444266:A:G 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr10:41445389:C:G 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr10:41445400:T:G 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr10:41447702:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:41448209:C:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr10:41448234:G:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr10:41448734:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr10:41448750:T:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr10:41448795:C:G 2,.,. -1 -1 -1 0.00140154 2 4 15,.,. 1,.,. recessive HG002 HG002 chr10:41449254:G:T 2,.,. -1 -1 -1 0.00210231 3 6 15,.,. 1,.,. recessive HG002 HG002 chr10:41449282:C:T 2,.,. -1 -1 -1 0.00315347 4 9 15,.,. 1,.,. recessive HG002 HG002 chr10:41449363:A:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr10:41450488:G:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr10:41450752:G:C 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr10:41450764:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr10:41450775:C:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr10:41451296:G:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr10:41451339:A:T 2,.,. -1 -1 -1 0.00315347 4 9 10,.,. 1,.,. recessive HG002 HG002 chr10:41451753:G:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr10:41451857:C:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr10:41451860:G:A 2,.,. -1 -1 -1 0.00140154 2 4 9,.,. 1,.,. recessive HG002 HG002 chr10:41451891:AT:A 2,.,. -1 -1 -1 0.00140154 2 4 9,.,. 1,.,. recessive HG002 HG002 chr10:41451896:T:C 2,.,. -1 -1 -1 0.00280308 4 8 9,.,. 1,.,. recessive HG002 HG002 chr10:41454160:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr10:41467017:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr10:41475864:C:G 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr10:41475892:C:T 2,.,. -1 -1 -1 0.00140154 2 4 41,.,. 1,.,. recessive HG002 HG002 chr10:41478262:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr10:41478263:A:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:41478266:A:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:41478267:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:41478331:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:41478337:C:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:41478346:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr10:41478353:C:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:41478359:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:41478360:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:41478367:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:41478370:T:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:41478376:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr10:41479371:C:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr10:41479382:T:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr10:41484712:A:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr10:41484715:A:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr10:41484716:C:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr10:41484780:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr10:41484786:C:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr10:41484801:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr10:41484802:C:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr10:41484805:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr10:41484809:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr10:41484813:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr10:41484816:C:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr10:41484819:T:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr10:41484825:C:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr10:41485821:C:G 2,.,. -1 -1 -1 0.00350385 4 10 25,.,. 1,.,. recessive HG002 HG002 chr10:41485832:T:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr10:41486840:C:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr10:41487860:C:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:41487871:T:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr10:41490916:C:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr10:41519192:C:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr10:41564385:C:G 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. dominant HG002 HG002 chr10:41890721:C:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr10:41903494:T:A 1,.,. -1 -1 -1 -1 -1 -1 95,.,. 0.389474,.,. dominant HG002 HG002 chr10:41907692:T:C 1,.,. -1 -1 -1 -1 -1 -1 124,.,. 0.701613,.,. dominant HG002 HG002 chr10:42307308:C:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.481481,.,. dominant HG002 HG002 chr10:42395653:C:CCAAAAACAAACAAA 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr10:42798820:A:G 1,.,. -1 -1 -1 -1 -1 -1 BMS1 50_intron 36,.,. 0.472222,.,. BMS1/intron/ 0.5018 0.4023 0.5070 1 0.000 dominant HG002 HG002 chr10:42837712:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr10:43448791:T:C 1,.,. -1 -1 -1 -1 -1 -1 ZNF487 50_intron 28,.,. 0.571429,.,. ZNF487/intron/;ZNF487/non_coding/ dominant HG002 HG002 chr10:44220041:A:AACACACACACAC 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.25,.,. dominant HG002 HG002 chr10:44542789:ATCGTCAT:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr10:44542798:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr10:44584049:TTGTG:T 1,.,. 6.6177e-06 0 1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr10:44584055:G:T 1,.,. 1.6436e-05 0 1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr10:45681523:G:T 1,.,. 2.11187e-05 0 3 -1 -1 -1 AGAP10P 53_non_coding 35,.,. 0.457143,.,. AGAP10P/non_coding/ dominant HG002 HG002 chr10:45846178:A:T 1,.,. -1 -1 -1 -1 -1 -1 AGAP4 50_intron 32,.,. 0.5625,.,. AGAP4/intron/;AGAP4/non_coding/ 0.1909 0.4360 0.7610 3 dominant HG002 HG002 chr10:45846179:A:C 1,.,. -1 -1 -1 -1 -1 -1 AGAP4 50_intron 32,.,. 0.5625,.,. AGAP4/intron/;AGAP4/non_coding/ 0.1909 0.4360 0.7610 3 dominant HG002 HG002 chr10:45846180:G:T 1,.,. -1 -1 -1 -1 -1 -1 AGAP4 50_intron 32,.,. 0.5625,.,. AGAP4/intron/;AGAP4/non_coding/ 0.1909 0.4360 0.7610 3 dominant HG002 HG002 chr10:45846181:A:T 1,.,. -1 -1 -1 -1 -1 -1 AGAP4 50_intron 32,.,. 0.5625,.,. AGAP4/intron/;AGAP4/non_coding/ 0.1909 0.4360 0.7610 3 dominant HG002 HG002 chr10:46039479:A:G 1,.,. -1 -1 -1 -1 -1 -1 MSMB 50_intron 39,.,. 0.487179,.,. MSMB/intron/ 0.0040 0.8717 1.5970 8 Prostate cancer, hereditary, 13 dominant HG002 HG002 chr10:46123290:C:G 1,.,. -1 -1 -1 -1 -1 -1 AGAP7P 53_non_coding 37,.,. 0.324324,.,. AGAP7P/non_coding/ dominant HG002 HG002 chr10:46126407:T:C 1,.,. -1 -1 -1 0.000700771 0 2 AGAP7P 53_non_coding 39,.,. 0.589744,.,. AGAP7P/non_coding/ dominant HG002 HG002 chr10:46223033:A:ATG 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr10:46223035:G:A 1,.,. 1.35164e-05 0 2 -1 -1 -1 31,.,. 0.645161,.,. recessive HG002 HG002 chr10:46361909:C:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr10:46361942:C:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. dominant HG002 HG002 chr10:47465744:A:C 1,.,. -1 -1 -1 0.000700771 0 2 ANXA8 50_intron 29,.,. 0.551724,.,. ANXA8/intron/ 0.5938 0.3453 0.7260 2 dominant HG002 HG002 chr10:47465747:C:G 1,.,. -1 -1 -1 0.000700771 0 2 ANXA8 50_intron 29,.,. 0.551724,.,. ANXA8/intron/ 0.5938 0.3453 0.7260 2 dominant HG002 HG002 chr10:47562581:T:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr10:48845821:TATACA:T 1,.,. -1 -1 -1 -1 -1 -1 WDFY4 50_intron 35,.,. 0.514286,.,. WDFY4/intron/ 0.0000 0.4619 0.5280 1 dominant HG002 HG002 chr10:48845827:G:T 1,.,. -1 -1 -1 -1 -1 -1 WDFY4 50_intron 35,.,. 0.514286,.,. WDFY4/intron/ 0.0000 0.4619 0.5280 1 dominant HG002 HG002 chr10:48980293:C:CTT 1,.,. -1 -1 -1 0.000700771 0 2 WDFY4 50_intron 34,.,. 0.470588,.,. WDFY4/intron/;WDFY4/non_coding/ 0.0000 0.4619 0.5280 1 dominant HG002 HG002 chr10:48980297:C:A 1,.,. -1 -1 -1 -1 -1 -1 WDFY4 50_intron 35,.,. 0.485714,.,. WDFY4/intron/;WDFY4/non_coding/ 0.0000 0.4619 0.5280 1 recessive HG002 HG002 chr10:49290334:T:TCATCTG 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:49290335:G:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr10:49719974:C:A 1,.,. 1.97218e-05 0 3 -1 -1 -1 24,.,. 0.416667,.,. dominant HG002 HG002 chr10:49759488:G:A 1,.,. -1 -1 -1 -1 -1 -1 OGDHL 50_intron 20,.,. 0.6,.,. OGDHL/intron/ 0.0000 0.7027 0.8470 3 0.000 recessive HG002 HG002 chr10:50036370:C:G 2,.,. -1 -1 -1 -1 -1 -1 FAM21EP 53_non_coding 32,.,. 1,.,. FAM21EP/non_coding/ recessive HG002 HG002 chr10:50036371:A:C 2,.,. 6.58198e-06 0 1 -1 -1 -1 FAM21EP 53_non_coding 32,.,. 1,.,. FAM21EP/non_coding/ dominant HG002 HG002 chr10:50046003:C:CCTT 1,.,. 4.21354e-05 0 2 -1 -1 -1 FAM21EP 53_non_coding 38,.,. 0.526316,.,. FAM21EP/non_coding/ dominant HG002 HG002 chr10:50046004:T:G 1,.,. -1 -1 -1 -1 -1 -1 FAM21EP 53_non_coding 39,.,. 0.538462,.,. FAM21EP/non_coding/ recessive HG002 HG002 chr10:50180666:A:ATTATG 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr10:50180667:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. dominant HG002 HG002 chr10:50203577:A:AATCCTATGGTGAAG 1,.,. -1 -1 -1 -1 -1 -1 ASAH2 50_intron 28,.,. 0.428571,.,. ASAH2/intron/ 0.0000 0.6570 0.8380 3 dominant HG002 HG002 chr10:50203580:A:G 1,.,. -1 -1 -1 -1 -1 -1 ASAH2 50_intron 28,.,. 0.464286,.,. ASAH2/intron/ 0.0000 0.6570 0.8380 3 dominant HG002 HG002 chr10:50271399:GTA:G 1,.,. -1 -1 -1 -1 -1 -1 ASAH2 50_intron 46,.,. 0.586957,.,. ASAH2/intron/ 0.0000 0.6570 0.8380 3 dominant HG002 HG002 chr10:50271402:C:A 1,.,. -1 -1 -1 -1 -1 -1 ASAH2 50_intron 47,.,. 0.574468,.,. ASAH2/intron/ 0.0000 0.6570 0.8380 3 dominant HG002 HG002 chr10:50341689:T:G 1,.,. -1 -1 -1 -1 -1 -1 SGMS1 50_intron 34,.,. 0.411765,.,. SGMS1/intron/ 0.9987 0.2711 0.4390 1 dominant HG002 HG002 chr10:50707598:T:TACACAC 1,.,. -1 -1 -1 -1 -1 -1 CTSLP4 53_non_coding 29,.,. 0.344828,.,. CTSLP4/non_coding/ dominant HG002 HG002 chr10:50749683:C:T 1,.,. -1 -1 -1 0.00105116 0 3 ASAH2B 50_intron 46,.,. 0.608696,.,. ASAH2B/intron/;ASAH2B/non_coding/ dominant HG002 HG002 chr10:50908815:C:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.425532,.,. dominant HG002 HG002 chr10:50964459:A:T 1,.,. 2.63103e-05 0 4 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr10:51172639:T:G 1,.,. 1.33358e-05 0 1 -1 -1 -1 PRKG1 50_intron 40,.,. 0.475,.,. PRKG1/intron/ 0.6630 0.3917 0.5340 1 Aortic aneurysm, familial thoracic 8 0.000 dominant HG002 HG002 chr10:51481185:T:TTCCC 1,.,. -1 -1 -1 -1 -1 -1 PRKG1 50_intron 50,.,. 0.46,.,. PRKG1/intron/;PRKG1/non_coding/ 0.6630 0.3917 0.5340 1 Aortic aneurysm, familial thoracic 8 0.000 dominant HG002 HG002 chr10:51672774:A:G 1,.,. 2.62771e-05 0 4 -1 -1 -1 PRKG1 50_intron 46,.,. 0.456522,.,. PRKG1/intron/ 0.6630 0.3917 0.5340 1 Aortic aneurysm, familial thoracic 8 0.000 dominant HG002 HG002 chr10:51743724:ATAATATAAAC:A 1,.,. -1 -1 -1 -1 -1 -1 PRKG1 50_intron 33,.,. 0.424242,.,. PRKG1/intron/ 0.6630 0.3917 0.5340 1 Aortic aneurysm, familial thoracic 8 0.000 dominant HG002 HG002 chr10:51879117:T:C 1,.,. -1 -1 -1 -1 -1 -1 PRKG1 50_intron 51,.,. 0.627451,.,. PRKG1/intron/ 0.6630 0.3917 0.5340 1 Aortic aneurysm, familial thoracic 8 0.000 dominant HG002 HG002 chr10:51879119:TGCTTGTAAATATCA:T 1,.,. -1 -1 -1 -1 -1 -1 PRKG1 50_intron 50,.,. 0.64,.,. PRKG1/intron/ 0.6630 0.3917 0.5340 1 Aortic aneurysm, familial thoracic 8 0.000 dominant HG002 HG002 chr10:52184403:C:T 1,.,. -1 -1 -1 -1 -1 -1 PRKG1 50_intron 35,.,. 0.514286,.,. PRKG1/intron/;PRKG1/non_coding/ 0.6630 0.3917 0.5340 1 Aortic aneurysm, familial thoracic 8 0.000 dominant HG002 HG002 chr10:52617592:A:ATAAATAC 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.368421,.,. dominant HG002 HG002 chr10:52617593:A:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.368421,.,. dominant HG002 HG002 chr10:52617595:T:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.368421,.,. dominant HG002 HG002 chr10:52688957:A:G 1,.,. 1.97363e-05 0 3 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr10:52712376:C:A 1,.,. 2.63884e-05 0 4 -1 -1 -1 53,.,. 0.45283,.,. dominant HG002 HG002 chr10:52834183:A:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.580645,.,. recessive HG002 HG002 chr10:52913179:C:A 2,.,. 0.00375768 0 230 0.00175193 0 5 58,.,. 1,.,. dominant HG002 HG002 chr10:53150859:C:CCT 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.608696,.,. recessive HG002 HG002 chr10:53195322:T:TAAATACCAGAA 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr10:53195324:T:A 2,.,. 2.86127e-05 0 4 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr10:53746043:A:C 1,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.492063,.,. dominant HG002 HG002 chr10:54122582:A:C 1,.,. -1 -1 -1 -1 -1 -1 PCDH15 50_intron 48,.,. 0.583333,.,. PCDH15/intron/ 0.0000 0.6952 0.8190 3 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 0.000 dominant HG002 HG002 chr10:54122590:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 PCDH15 50_intron 49,.,. 0.469388,.,. PCDH15/intron/ 0.0000 0.6952 0.8190 3 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 0.000 dominant HG002 HG002 chr10:54344914:A:AAAAC 1,.,. -1 -1 -1 -1 -1 -1 PCDH15 50_intron 36,.,. 0.555556,.,. PCDH15/intron/ 0.0000 0.6952 0.8190 3 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 0.000 dominant HG002 HG002 chr10:54344920:A:C 1,.,. -1 -1 -1 -1 -1 -1 PCDH15 50_intron 43,.,. 0.534884,.,. PCDH15/intron/ 0.0000 0.6952 0.8190 3 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 0.000 recessive HG002 HG002 chr10:54622081:T:TTGCC 2,.,. -1 -1 -1 -1 -1 -1 PCDH15 50_intron 42,.,. 1,.,. PCDH15/intron/ 0.0000 0.6952 0.8190 3 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 0.000 recessive HG002 HG002 chr10:54622082:A:T 2,.,. -1 -1 -1 -1 -1 -1 PCDH15 50_intron 42,.,. 1,.,. PCDH15/intron/ 0.0000 0.6952 0.8190 3 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 0.000 recessive HG002 HG002 chr10:54622083:T:A 2,.,. -1 -1 -1 -1 -1 -1 PCDH15 50_intron 42,.,. 1,.,. PCDH15/intron/ 0.0000 0.6952 0.8190 3 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 0.000 recessive HG002 HG002 chr10:54666184:TATAAAA:T 2,.,. -1 -1 -1 -1 -1 -1 PCDH15 50_intron 46,.,. 1,.,. PCDH15/intron/ 0.0000 0.6952 0.8190 3 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 0.000 dominant HG002 HG002 chr10:54713216:CACACACACAT:C 1,.,. -1 -1 -1 -1 -1 -1 PCDH15 50_intron 47,.,. 0.382979,.,. PCDH15/intron/ 0.0000 0.6952 0.8190 3 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 0.000 dominant HG002 HG002 chr10:54726999:C:T 1,.,. -1 -1 -1 -1 -1 -1 PCDH15 50_intron 44,.,. 0.5,.,. PCDH15/intron/ 0.0000 0.6952 0.8190 3 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 0.000 dominant HG002 HG002 chr10:54979812:C:CTATGTGTAACATACAA 1,.,. -1 -1 -1 -1 -1 -1 PCDH15 50_intron 42,.,. 0.47619,.,. PCDH15/intron/ 0.0000 0.6952 0.8190 3 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 0.000 dominant HG002 HG002 chr10:55150072:GGGGGA:G 1,.,. -1 -1 -1 -1 -1 -1 PCDH15 50_intron 52,.,. 0.423077,.,. PCDH15/intron/ 0.0000 0.6952 0.8190 3 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 0.000 recessive HG002 HG002 chr10:55420300:GCTCATATGGTAA:G 2,.,. -1 -1 -1 -1 -1 -1 PCDH15 50_intron 37,.,. 1,.,. PCDH15/intron/ 0.0000 0.6952 0.8190 3 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 0.000 recessive HG002 HG002 chr10:55420313:A:T 2,.,. -1 -1 -1 -1 -1 -1 PCDH15 50_intron 37,.,. 1,.,. PCDH15/intron/ 0.0000 0.6952 0.8190 3 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 0.000 recessive HG002 HG002 chr10:55420315:C:A 2,.,. -1 -1 -1 -1 -1 -1 PCDH15 50_intron 37,.,. 1,.,. PCDH15/intron/ 0.0000 0.6952 0.8190 3 Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23 0.000 recessive HG002 HG002 chr10:55630714:T:TTA 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr10:55630715:A:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr10:55940077:T:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.404762,.,. dominant HG002 HG002 chr10:55966038:G:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr10:55970029:T:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.609756,.,. dominant HG002 HG002 chr10:55995778:G:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.382979,.,. dominant HG002 HG002 chr10:55995882:GTGTA:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.361702,.,. dominant HG002 HG002 chr10:55995890:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.369565,.,. dominant HG002 HG002 chr10:56126033:A:G 1,.,. 6.57376e-06 0 1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr10:56372565:AACAGTTTGACAC:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr10:56372578:A:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.510204,.,. recessive HG002 HG002 chr10:56482298:C:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr10:56482299:A:ACAACTAGG 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr10:56971496:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr10:57060019:CA:C 1,.,. 6.58033e-06 0 1 -1 -1 -1 38,.,. 0.394737,.,. dominant HG002 HG002 chr10:57213157:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr10:57410623:C:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.425532,.,. dominant HG002 HG002 chr10:58001580:C:CATATAT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr10:58001581:T:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr10:58211830:C:CCG 1,.,. -1 -1 -1 -1 -1 -1 IPMK 50_intron 50,.,. 0.5,.,. IPMK/intron/ 0.8165 0.3326 0.6000 2 dominant HG002 HG002 chr10:58251483:ATG:A 1,.,. -1 -1 -1 -1 -1 -1 IPMK 50_intron 54,.,. 0.462963,.,. IPMK/intron/ 0.8165 0.3326 0.6000 2 dominant HG002 HG002 chr10:58251487:C:T 1,.,. -1 -1 -1 -1 -1 -1 IPMK 50_intron 54,.,. 0.481481,.,. IPMK/intron/ 0.8165 0.3326 0.6000 2 recessive HG002 HG002 chr10:58392449:C:CCT 2,.,. -1 -1 -1 -1 -1 -1 TFAM 50_intron 43,.,. 1,.,. TFAM/non_coding/;TFAM/intron/ 0.0868 0.4583 0.7420 3 Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 0.000 recessive HG002 HG002 chr10:58392452:T:A 2,.,. 1.31777e-05 0 2 -1 -1 -1 TFAM 50_intron 43,.,. 1,.,. TFAM/non_coding/;TFAM/intron/ 0.0868 0.4583 0.7420 3 Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 0.000 dominant HG002 HG002 chr10:58601151:T:A 1,.,. -1 -1 -1 -1 -1 -1 BICC1 50_intron 43,.,. 0.44186,.,. BICC1/intron/ 0.2999 0.4082 0.5410 1 Renal dysplasia, cystic, susceptibility to 0.000 recessive HG002 HG002 chr10:58667450:GGA:G 2,.,. -1 -1 -1 -1 -1 -1 BICC1 50_intron 36,.,. 1,.,. BICC1/intron/ 0.2999 0.4082 0.5410 1 Renal dysplasia, cystic, susceptibility to 0.000 recessive HG002 HG002 chr10:58667465:CCT:C 2,.,. -1 -1 -1 -1 -1 -1 BICC1 50_intron 36,.,. 1,.,. BICC1/intron/ 0.2999 0.4082 0.5410 1 Renal dysplasia, cystic, susceptibility to 0.000 recessive HG002 HG002 chr10:58667491:C:A 2,.,. -1 -1 -1 -1 -1 -1 BICC1 50_intron 36,.,. 1,.,. BICC1/intron/ 0.2999 0.4082 0.5410 1 Renal dysplasia, cystic, susceptibility to 0.000 recessive HG002 HG002 chr10:58667500:C:T 2,.,. -1 -1 -1 -1 -1 -1 BICC1 50_intron 36,.,. 1,.,. BICC1/intron/ 0.2999 0.4082 0.5410 1 Renal dysplasia, cystic, susceptibility to 0.000 dominant HG002 HG002 chr10:59254705:C:T 1,.,. 2.63241e-05 0 4 -1 -1 -1 FAM13C 50_intron 50,.,. 0.52,.,. FAM13C/intron/ 0.0001 0.5100 0.6730 2 dominant HG002 HG002 chr10:59320338:G:A 1,.,. -1 -1 -1 -1 -1 -1 FAM13C 50_intron 43,.,. 0.534884,.,. FAM13C/intron/;FAM13C/non_coding/ 0.0001 0.5100 0.6730 2 dominant HG002 HG002 chr10:59522163:C:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr10:59549580:T:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr10:59563450:A:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr10:59563451:A:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr10:59563452:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr10:59563453:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. recessive HG002 HG002 chr10:59590952:C:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr10:59590953:GGACAGTC:G 2,.,. 3.74195e-05 0 1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr10:59723039:T:A 2,.,. 6.57047e-06 0 1 -1 -1 -1 SLC16A9 50_intron 36,.,. 1,.,. SLC16A9/intron/ 0.0160 0.4769 0.7000 2 recessive HG002 HG002 chr10:59772177:GATCCTT:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:59772185:G:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr10:59844760:A:AAGAG 1,.,. -1 -1 -1 -1 -1 -1 CCDC6 50_intron 33,.,. 0.333333,.,. CCDC6/intron/ 0.8910 0.3313 0.5620 1 dominant HG002 HG002 chr10:60358125:C:A 1,.,. -1 -1 -1 -1 -1 -1 ANK3 50_intron 33,.,. 0.575758,.,. ANK3/intron/ 1.0000 0.1244 0.1600 0 Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0.000 dominant HG002 HG002 chr10:60790983:T:G 1,.,. 2.62822e-05 0 4 -1 -1 -1 CDK1 50_intron 54,.,. 0.481481,.,. CDK1/intron/;CDK1/non_coding/ 0.9040 0.1191 0.5650 1 dominant HG002 HG002 chr10:61680315:A:AATAT 1,.,. -1 -1 -1 -1 -1 -1 CABCOCO1 50_intron 31,.,. 0.483871,.,. CABCOCO1/intron/ 0.0033 0.6778 1.1500 6 recessive HG002 HG002 chr10:62292351:TA:T 2,.,. -1 -1 -1 0.00210231 0 6 41,.,. 1,.,. recessive HG002 HG002 chr10:62580393:G:T 2,.,. -1 -1 -1 -1 -1 -1 AC024598.1 50_intron 53,.,. 0.981132,.,. AC024598.1/intron/ recessive HG002 HG002 chr10:62580395:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC024598.1 50_intron 52,.,. 0.980769,.,. AC024598.1/intron/ recessive HG002 HG002 chr10:62580396:C:A 2,.,. -1 -1 -1 -1 -1 -1 AC024598.1 50_intron 53,.,. 0.981132,.,. AC024598.1/intron/ dominant HG002 HG002 chr10:63028354:A:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr10:63115324:A:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr10:63440349:A:AATAT 1,.,. -1 -1 -1 -1 -1 -1 JMJD1C 50_intron 37,.,. 0.432432,.,. JMJD1C/intron/;JMJD1C/non_coding/ 1.0000 0.1097 0.1570 0 0.000 dominant HG002 HG002 chr10:63461102:G:C 1,.,. -1 -1 -1 -1 -1 -1 JMJD1C 50_intron 35,.,. 0.4,.,. JMJD1C/intron/;JMJD1C/non_coding/ 1.0000 0.1097 0.1570 0 0.000 dominant HG002 HG002 chr10:63490423:T:A 1,.,. 5.24604e-05 0 4 -1 -1 -1 JMJD1C 53_non_coding 39,.,. 0.384615,.,. JMJD1C/non_coding/ 1.0000 0.1097 0.1570 0 0.000 dominant HG002 HG002 chr10:64077574:A:G 1,.,. -1 -1 -1 0.00105116 0 3 38,.,. 0.605263,.,. dominant HG002 HG002 chr10:64149171:T:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. recessive HG002 HG002 chr10:64249569:ATTAT:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr10:64249574:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr10:64456696:G:GTC 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr10:64456700:T:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr10:64743444:A:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr10:65003913:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr10:65101267:A:G 1,.,. 2.62833e-05 0 4 -1 -1 -1 33,.,. 0.424242,.,. recessive HG002 HG002 chr10:65272865:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:65273043:A:T 2,.,. 0.000359712 0 1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr10:65607995:TCCTTCCTTCTTC:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr10:65746955:T:TATA 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr10:65843339:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr10:66016370:AACAGGGAAGAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 CTNNA3 50_intron 40,.,. 0.4,.,. CTNNA3/intron/;CTNNA3/non_coding/ 0.0000 0.6993 0.8750 4 Arrhythmogenic right ventricular dysplasia 13 0.000 dominant HG002 HG002 chr10:66016386:G:C 1,.,. -1 -1 -1 -1 -1 -1 CTNNA3 50_intron 41,.,. 0.414634,.,. CTNNA3/intron/;CTNNA3/non_coding/ 0.0000 0.6993 0.8750 4 Arrhythmogenic right ventricular dysplasia 13 0.000 dominant HG002 HG002 chr10:66045056:G:A 1,.,. -1 -1 -1 -1 -1 -1 CTNNA3 50_intron 51,.,. 0.352941,.,. CTNNA3/intron/;CTNNA3/non_coding/ 0.0000 0.6993 0.8750 4 Arrhythmogenic right ventricular dysplasia 13 0.000 recessive HG002 HG002 chr10:66250659:A:ATTATCAGTGGCAC 2,.,. -1 -1 -1 -1 -1 -1 CTNNA3 50_intron 40,.,. 1,.,. CTNNA3/intron/ 0.0000 0.6993 0.8750 4 Arrhythmogenic right ventricular dysplasia 13 0.000 dominant HG002 HG002 chr10:66642255:T:TACACAC 1,.,. -1 -1 -1 -1 -1 -1 CTNNA3 50_intron 19,.,. 0.736842,.,. CTNNA3/intron/ 0.0000 0.6993 0.8750 4 Arrhythmogenic right ventricular dysplasia 13 0.000 recessive HG002 HG002 chr10:66651653:C:G 2,.,. -1 -1 -1 -1 -1 -1 CTNNA3 50_intron 28,.,. 1,.,. CTNNA3/intron/ 0.0000 0.6993 0.8750 4 Arrhythmogenic right ventricular dysplasia 13 0.000 dominant HG002 HG002 chr10:66651657:G:T 1,.,. 2.84533e-05 0 3 -1 -1 -1 CTNNA3 50_intron 29,.,. 0.310345,.,. CTNNA3/intron/ 0.0000 0.6993 0.8750 4 Arrhythmogenic right ventricular dysplasia 13 0.000 dominant HG002 HG002 chr10:66780404:AAT:A 1,.,. -1 -1 -1 -1 -1 -1 CTNNA3 50_intron 41,.,. 0.487805,.,. CTNNA3/intron/ 0.0000 0.6993 0.8750 4 Arrhythmogenic right ventricular dysplasia 13 0.000 dominant HG002 HG002 chr10:66780407:A:T 1,.,. 5.16636e-05 0 1 -1 -1 -1 CTNNA3 50_intron 40,.,. 0.5,.,. CTNNA3/intron/ 0.0000 0.6993 0.8750 4 Arrhythmogenic right ventricular dysplasia 13 0.000 dominant HG002 HG002 chr10:66828630:G:A 1,.,. 1.31432e-05 0 2 -1 -1 -1 CTNNA3 50_intron 38,.,. 0.394737,.,. CTNNA3/intron/ 0.0000 0.6993 0.8750 4 Arrhythmogenic right ventricular dysplasia 13 0.000 dominant HG002 HG002 chr10:66865211:T:TGTGC 1,.,. 1.12752e-05 0 1 -1 -1 -1 CTNNA3 50_intron 35,.,. 0.371429,.,. CTNNA3/intron/ 0.0000 0.6993 0.8750 4 Arrhythmogenic right ventricular dysplasia 13 0.000 recessive HG002 HG002 chr10:67155529:ATGTGTG:A 2,.,. 0.000202053 0 5 -1 -1 -1 CTNNA3 50_intron 36,.,. 1,.,. CTNNA3/intron/ 0.0000 0.6993 0.8750 4 Arrhythmogenic right ventricular dysplasia 13 0.000 recessive HG002 HG002 chr10:67155552:G:T 2,.,. 0.000485223 0 11 -1 -1 -1 CTNNA3 50_intron 39,.,. 1,.,. CTNNA3/intron/ 0.0000 0.6993 0.8750 4 Arrhythmogenic right ventricular dysplasia 13 0.000 dominant HG002 HG002 chr10:67317889:G:A 1,.,. 7.43649e-06 0 1 -1 -1 -1 CTNNA3 50_intron 36,.,. 0.416667,.,. CTNNA3/intron/ 0.0000 0.6993 0.8750 4 Arrhythmogenic right ventricular dysplasia 13 0.000 dominant HG002 HG002 chr10:68218556:G:GATT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.243243,.,. dominant HG002 HG002 chr10:68300642:G:GAT 1,.,. -1 -1 -1 -1 -1 -1 PBLD 50_intron 30,.,. 0.466667,.,. PBLD/intron/;PBLD/non_coding/ 0.0000 0.6802 0.9980 5 dominant HG002 HG002 chr10:68300643:T:C 1,.,. -1 -1 -1 -1 -1 -1 PBLD 50_intron 31,.,. 0.451613,.,. PBLD/intron/;PBLD/non_coding/ 0.0000 0.6802 0.9980 5 recessive HG002 HG002 chr10:68502125:GCAGAGGT:G 2,.,. -1 -1 -1 -1 -1 -1 SLC25A16 50_intron 21,.,. 1,.,. SLC25A16/intron/;SLC25A16/non_coding/ 0.0006 0.7876 1.3030 7 recessive HG002 HG002 chr10:68502134:G:T 2,.,. -1 -1 -1 -1 -1 -1 SLC25A16 50_intron 21,.,. 1,.,. SLC25A16/intron/;SLC25A16/non_coding/ 0.0006 0.7876 1.3030 7 dominant HG002 HG002 chr10:69465216:TTCCCCTGGGGG:T 1,.,. -1 -1 -1 -1 -1 -1 TSPAN15 50_intron 30,.,. 0.533333,.,. TSPAN15/intron/;TSPAN15/non_coding/ 0.0005 0.6038 0.9060 4 dominant HG002 HG002 chr10:69830593:GATGGAA:G 1,.,. -1 -1 -1 -1 -1 -1 COL13A1 50_intron 27,.,. 0.481481,.,. COL13A1/intron/;COL13A1/non_coding/ 0.0000 0.7335 0.8860 4 Congenital myasthenic syndrome 19 0.000 dominant HG002 HG002 chr10:69830602:G:A 1,.,. -1 -1 -1 -1 -1 -1 COL13A1 50_intron 27,.,. 0.481481,.,. COL13A1/intron/;COL13A1/non_coding/ 0.0000 0.7335 0.8860 4 Congenital myasthenic syndrome 19 0.000 dominant HG002 HG002 chr10:69831587:T:C 1,.,. 2.62829e-05 0 4 -1 -1 -1 COL13A1 50_intron 26,.,. 0.538462,.,. COL13A1/intron/;COL13A1/non_coding/ 0.0000 0.7335 0.8860 4 Congenital myasthenic syndrome 19 0.000 dominant HG002 HG002 chr10:70388381:A:AACATATATATAT 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.30303,.,. dominant HG002 HG002 chr10:70556285:T:TCTCTCCCC 1,.,. -1 -1 -1 -1 -1 -1 PALD1 50_intron 17,.,. 0.470588,.,. PALD1/intron/ 0.0000 0.5972 0.7510 3 dominant HG002 HG002 chr10:70664690:G:A 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.5,.,. dominant HG002 HG002 chr10:70686886:CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACA:C 1,.,. 1.18711e-05 0 1 0.000700771 0 2 ADAMTS14 50_intron 24,.,. 0.291667,.,. ADAMTS14/intron/ 0.0000 0.8167 0.9660 4 dominant HG002 HG002 chr10:70832542:A:G 1,.,. -1 -1 -1 -1 -1 -1 SGPL1 50_intron 37,.,. 0.486486,.,. SGPL1/intron/ 0.0025 0.5009 0.7100 2 Nephrotic syndrome 14 0.000 dominant HG002 HG002 chr10:71157773:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr10:71157774:A:T 1,.,. 6.60066e-06 0 1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr10:71671647:C:T 1,.,. -1 -1 -1 -1 -1 -1 CDH23 50_intron 31,.,. 0.612903,.,. CDH23/intron/ 0.0000 0.6048 0.6850 2 Usher syndrome type 1D;Autosomal recessive nonsyndromic hearing loss 12;Pituitary adenoma 5, multiple types 0.000 dominant HG002 HG002 chr10:71787547:C:CTTCTGA 1,.,. -1 -1 -1 -1 -1 -1 CDH23 50_intron 29,.,. 0.586207,.,. CDH23/intron/ 0.0000 0.6048 0.6850 2 Usher syndrome type 1D;Autosomal recessive nonsyndromic hearing loss 12;Pituitary adenoma 5, multiple types 0.000 dominant HG002 HG002 chr10:71787548:C:G 1,.,. -1 -1 -1 -1 -1 -1 CDH23 50_intron 27,.,. 0.592593,.,. CDH23/intron/ 0.0000 0.6048 0.6850 2 Usher syndrome type 1D;Autosomal recessive nonsyndromic hearing loss 12;Pituitary adenoma 5, multiple types 0.000 recessive HG002 HG002 chr10:71884299:C:CAT 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr10:71884300:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr10:71924951:G:A 1,.,. 3.06556e-05 0 4 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr10:72043019:T:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.34375,.,. dominant HG002 HG002 chr10:72245705:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.588235,.,. dominant HG002 HG002 chr10:72392821:G:A 1,.,. 2.62733e-05 0 4 -1 -1 -1 MICU1 50_intron 24,.,. 0.666667,.,. MICU1/intron/ 0.0000 0.7554 1.0190 5 Proximal myopathy with extrapyramidal signs 0.000 dominant HG002 HG002 chr10:72809325:A:G 1,.,. -1 -1 -1 -1 -1 -1 MCU 50_intron 56,.,. 0.5,.,. MCU/intron/ 0.9965 0.2341 0.4400 1 recessive HG002 HG002 chr10:73064481:A:AAAAATAAAATAAAG 2,.,. 0.000391387 0 59 -1 -1 -1 P4HA1 50_intron 44,.,. 1,.,. P4HA1/intron/ 0.9849 0.1362 0.4290 1 recessive HG002 HG002 chr10:73083074:T:C 2,.,. -1 -1 -1 -1 -1 -1 P4HA1 50_intron 45,.,. 1,.,. P4HA1/intron/ 0.9849 0.1362 0.4290 1 recessive HG002 HG002 chr10:73107919:C:CTGAGTTCTGAGCTATTTTTATTAT 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr10:73107920:A:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr10:73107922:A:T 2,.,. 0.000122238 0 16 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr10:73107923:T:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr10:73136954:AATT:A 2,.,. 2.92751e-05 0 3 -1 -1 -1 ECD 50_intron 39,.,. 1,.,. ECD/intron/ 0.0000 0.6965 0.8880 4 dominant HG002 HG002 chr10:73253009:A:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. recessive HG002 HG002 chr10:73282634:A:C 2,.,. -1 -1 -1 -1 -1 -1 CFAP70 50_intron 40,.,. 1,.,. CFAP70/intron/;CFAP70/non_coding/ 0.0000 0.6153 0.7500 3 Spermatogenic failure 41 0.000 recessive HG002 HG002 chr10:73282635:G:A 2,.,. -1 -1 -1 -1 -1 -1 CFAP70 50_intron 40,.,. 1,.,. CFAP70/intron/;CFAP70/non_coding/ 0.0000 0.6153 0.7500 3 Spermatogenic failure 41 0.000 recessive HG002 HG002 chr10:73282637:A:G 2,.,. -1 -1 -1 -1 -1 -1 CFAP70 50_intron 40,.,. 1,.,. CFAP70/intron/;CFAP70/non_coding/ 0.0000 0.6153 0.7500 3 Spermatogenic failure 41 0.000 dominant HG002 HG002 chr10:73487568:A:AC 1,.,. -1 -1 -1 -1 -1 -1 PPP3CB 50_intron 48,.,. 0.354167,.,. PPP3CB/intron/ 1.0000 0.1410 0.2540 0 dominant HG002 HG002 chr10:73607334:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 USP54 50_intron 34,.,. 0.264706,.,. USP54/intron/;USP54/non_coding/ 0.0000 0.4897 0.5850 2 dominant HG002 HG002 chr10:73715784:T:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.571429,.,. recessive HG002 HG002 chr10:73889551:T:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr10:74595713:G:A 2,.,. 0.00621118 0 2 -1 -1 -1 ADK 50_intron 53,.,. 1,.,. ADK/intron/ 0.0002 0.6083 0.8930 4 Adenosine kinase deficiency 0.000 dominant HG002 HG002 chr10:74877945:AT:A 1,.,. -1 -1 -1 -1 -1 -1 KAT6B 50_intron 28,.,. 0.535714,.,. KAT6B/intron/;KAT6B/non_coding/ 1.0000 0.0575 0.0980 0 Blepharophimosis - intellectual disability syndrome, SBBYS type;Genitopatellar syndrome 0.000 dominant HG002 HG002 chr10:74912371:G:GGATAGATA 1,.,. -1 -1 -1 -1 -1 -1 KAT6B 50_intron 43,.,. 0.488372,.,. KAT6B/intron/;KAT6B/non_coding/ 1.0000 0.0575 0.0980 0 Blepharophimosis - intellectual disability syndrome, SBBYS type;Genitopatellar syndrome 0.000 recessive HG002 HG002 chr10:74998118:AAT:A 2,.,. -1 -1 -1 -1 -1 -1 KAT6B 50_intron 33,.,. 1,.,. KAT6B/intron/;KAT6B/non_coding/ 1.0000 0.0575 0.0980 0 Blepharophimosis - intellectual disability syndrome, SBBYS type;Genitopatellar syndrome 0.000 recessive HG002 HG002 chr10:74998122:C:A 2,.,. -1 -1 -1 -1 -1 -1 KAT6B 50_intron 33,.,. 1,.,. KAT6B/intron/;KAT6B/non_coding/ 1.0000 0.0575 0.0980 0 Blepharophimosis - intellectual disability syndrome, SBBYS type;Genitopatellar syndrome 0.000 dominant HG002 HG002 chr10:75199807:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr10:75859620:C:A 1,.,. -1 -1 -1 -1 -1 -1 LRMDA 50_intron 37,.,. 0.513514,.,. LRMDA/intron/;LRMDA/non_coding/ 0.0002 0.6388 0.9580 4 Oculocutaneous albinism type 7 0.000 recessive HG002 HG002 chr10:76240814:ATGTATATATATACACATACATATATATG:A 2,.,. -1 -1 -1 0.0129643 0 37 LRMDA 50_intron 24,.,. 1,.,. LRMDA/intron/;LRMDA/non_coding/ 0.0002 0.6388 0.9580 4 Oculocutaneous albinism type 7 0.000 dominant HG002 HG002 chr10:77429126:C:T 1,.,. -1 -1 -1 -1 -1 -1 KCNMA1 50_intron 37,.,. 0.378378,.,. KCNMA1/intron/;KCNMA1/non_coding/ 1.0000 0.2384 0.3310 0 Liang-Wang syndrome;Epilepsy, idiopathic generalized, susceptibility to, 16;Cerebellar atrophy, developmental delay, and seizures;Generalized epilepsy-paroxysmal dyskinesia syndrome 0.000 recessive HG002 HG002 chr10:77670689:A:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr10:77934851:T:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.3,.,. recessive HG002 HG002 chr10:78606418:GTTGGT:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr10:78606425:C:G 2,.,. 0.0272109 0 8 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr10:78613259:A:AGGAAGGAAGGAGGGAG 1,.,. -1 -1 -1 0.000700771 0 2 28,.,. 0.285714,.,. recessive HG002 HG002 chr10:78637942:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr10:78657782:A:G 1,.,. 2.63009e-05 0 4 0.00105116 0 3 29,.,. 0.655172,.,. dominant HG002 HG002 chr10:79002273:A:G 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.5,.,. dominant HG002 HG002 chr10:79067990:G:GGA 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.529412,.,. recessive HG002 HG002 chr10:79589581:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:79614513:A:AGCCCACTGCCT 2,.,. -1 -1 -1 -1 -1 -1 SFTPA1 36_3_prime_utr 34,.,. 1,.,. SFTPA1/3_prime_utr/ENST00000419470;SFTPA1/3_prime_utr/ENST00000398636;SFTPA1/3_prime_utr/ENST00000428376 0.0007 0.6560 1.0260 5 Interstitial lung disease 1 0.000 recessive HG002 HG002 chr10:79614514:A:G 2,.,. -1 -1 -1 -1 -1 -1 SFTPA1 36_3_prime_utr 35,.,. 1,.,. SFTPA1/3_prime_utr/ENST00000419470;SFTPA1/3_prime_utr/ENST00000398636;SFTPA1/3_prime_utr/ENST00000428376 0.0007 0.6560 1.0260 5 Interstitial lung disease 1 0.000 dominant HG002 HG002 chr10:79637728:G:GAC 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.358974,.,. dominant HG002 HG002 chr10:79637729:C:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.358974,.,. dominant HG002 HG002 chr10:79680907:T:TGATA 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr10:80031213:GGGA:G 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.636364,.,. dominant HG002 HG002 chr10:80116976:GTAACACAT:G 1,.,. 1.33726e-05 0 1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr10:80124172:A:G 1,.,. 2.62798e-05 0 4 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr10:80842523:A:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr10:81344562:T:TAATAACTAAATTTC 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.631579,.,. dominant HG002 HG002 chr10:81426429:A:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.632653,.,. dominant HG002 HG002 chr10:82054842:T:A 1,.,. -1 -1 -1 -1 -1 -1 NRG3 50_intron 48,.,. 0.583333,.,. NRG3/intron/ 0.0028 0.4710 0.6360 2 dominant HG002 HG002 chr10:82152715:ATG:A 1,.,. -1 -1 -1 -1 -1 -1 NRG3 50_intron 42,.,. 0.452381,.,. NRG3/intron/ 0.0028 0.4710 0.6360 2 dominant HG002 HG002 chr10:82152718:C:G 1,.,. -1 -1 -1 -1 -1 -1 NRG3 50_intron 42,.,. 0.452381,.,. NRG3/intron/ 0.0028 0.4710 0.6360 2 dominant HG002 HG002 chr10:82317365:A:G 1,.,. -1 -1 -1 -1 -1 -1 NRG3 50_intron 44,.,. 0.545455,.,. NRG3/intron/ 0.0028 0.4710 0.6360 2 dominant HG002 HG002 chr10:82610304:T:A 1,.,. -1 -1 -1 -1 -1 -1 NRG3 50_intron 42,.,. 0.547619,.,. NRG3/intron/ 0.0028 0.4710 0.6360 2 dominant HG002 HG002 chr10:82610305:C:T 1,.,. -1 -1 -1 -1 -1 -1 NRG3 50_intron 41,.,. 0.560976,.,. NRG3/intron/ 0.0028 0.4710 0.6360 2 dominant HG002 HG002 chr10:82610306:T:TATATATGCATATATA 1,.,. -1 -1 -1 -1 -1 -1 NRG3 50_intron 41,.,. 0.560976,.,. NRG3/intron/ 0.0028 0.4710 0.6360 2 dominant HG002 HG002 chr10:82968661:C:CTGGGAGGGAGGG 1,.,. -1 -1 -1 -1 -1 -1 NRG3 50_intron 37,.,. 0.378378,.,. NRG3/intron/ 0.0028 0.4710 0.6360 2 dominant HG002 HG002 chr10:82968665:G:C 1,.,. 2.72647e-05 0 4 -1 -1 -1 NRG3 50_intron 36,.,. 0.388889,.,. NRG3/intron/ 0.0028 0.4710 0.6360 2 recessive HG002 HG002 chr10:83178326:C:G 2,.,. 6.57186e-06 0 1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr10:83361620:T:G 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.347826,.,. dominant HG002 HG002 chr10:83361621:G:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.32,.,. dominant HG002 HG002 chr10:83361622:T:G 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.333333,.,. dominant HG002 HG002 chr10:83454314:C:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.557692,.,. dominant HG002 HG002 chr10:83464579:G:GAAAC 1,.,. 2.80505e-05 0 1 -1 -1 -1 48,.,. 0.541667,.,. dominant HG002 HG002 chr10:83556904:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr10:83617440:GTAGCAGGACCTA:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.344828,.,. dominant HG002 HG002 chr10:83617453:T:G 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.357143,.,. dominant HG002 HG002 chr10:83874465:C:T 1,.,. 5.54221e-05 0 3 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr10:83933927:G:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr10:83933928:TGAGCTTGCAGTGA:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. recessive HG002 HG002 chr10:84657407:GTATAACCCATTGTACACGTTTCCTGTATA:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr10:84657437:A:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr10:84657440:C:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr10:84726009:A:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.615385,.,. dominant HG002 HG002 chr10:84792454:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr10:84922898:GTATA:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr10:85697302:T:A 1,.,. -1 -1 -1 -1 -1 -1 GRID1 50_intron 41,.,. 0.341463,.,. GRID1/intron/ 1.0000 0.2863 0.4000 0 dominant HG002 HG002 chr10:85697303:T:TTAA 1,.,. -1 -1 -1 -1 -1 -1 GRID1 50_intron 41,.,. 0.341463,.,. GRID1/intron/ 1.0000 0.2863 0.4000 0 dominant HG002 HG002 chr10:85731822:AGGAAG:A 1,.,. -1 -1 -1 -1 -1 -1 GRID1 50_intron 33,.,. 0.515152,.,. GRID1/intron/ 1.0000 0.2863 0.4000 0 dominant HG002 HG002 chr10:85731837:G:A 1,.,. -1 -1 -1 0.000700771 0 2 GRID1 50_intron 32,.,. 0.53125,.,. GRID1/intron/ 1.0000 0.2863 0.4000 0 dominant HG002 HG002 chr10:85737690:A:T 1,.,. -1 -1 -1 -1 -1 -1 GRID1 50_intron 33,.,. 0.606061,.,. GRID1/intron/ 1.0000 0.2863 0.4000 0 dominant HG002 HG002 chr10:85745203:C:G 1,.,. -1 -1 -1 -1 -1 -1 GRID1 50_intron 28,.,. 0.357143,.,. GRID1/intron/ 1.0000 0.2863 0.4000 0 dominant HG002 HG002 chr10:86221187:G:A 1,.,. 2.62802e-05 0 4 -1 -1 -1 GRID1 50_intron 28,.,. 0.607143,.,. GRID1/intron/ 1.0000 0.2863 0.4000 0 dominant HG002 HG002 chr10:86247999:T:C 1,.,. -1 -1 -1 -1 -1 -1 GRID1 50_intron 25,.,. 0.4,.,. GRID1/intron/ 1.0000 0.2863 0.4000 0 dominant HG002 HG002 chr10:86248000:C:T 1,.,. -1 -1 -1 -1 -1 -1 GRID1 50_intron 25,.,. 0.4,.,. GRID1/intron/ 1.0000 0.2863 0.4000 0 dominant HG002 HG002 chr10:86532648:T:G 1,.,. 1.97192e-05 0 3 -1 -1 -1 25,.,. 0.4,.,. dominant HG002 HG002 chr10:86837243:G:GTGTGTGTGTC 1,.,. -1 -1 -1 -1 -1 -1 BMPR1A 50_intron 36,.,. 0.444444,.,. BMPR1A/intron/ 1.0000 0.1041 0.1950 0 Juvenile polyposis syndrome;Polyposis syndrome, hereditary mixed, 2 0.000 dominant HG002 HG002 chr10:87007954:ACT:A 1,.,. 1.55448e-05 0 2 -1 -1 -1 AL136982.4 53_non_coding 41,.,. 0.439024,.,. AL136982.4/non_coding/ recessive HG002 HG002 chr10:87280713:G:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr10:87457263:C:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. dominant HG002 HG002 chr10:87484501:G:T 1,.,. 2.69891e-05 0 4 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr10:87939535:A:T 1,.,. -1 -1 -1 -1 -1 -1 PTEN 50_intron 38,.,. 0.473684,.,. PTEN/intron/ 0.0487 0.4567 0.6850 2 Familial prostate cancer;Familial meningioma;Glioma susceptibility 2;PTEN hamartoma tumor syndrome;Cowden syndrome 1;Macrocephaly-autism syndrome 0.000 dominant HG002 HG002 chr10:87939536:CTGGTCTTGAACTCT:C 1,.,. -1 -1 -1 -1 -1 -1 PTEN 50_intron 38,.,. 0.473684,.,. PTEN/intron/ 0.0487 0.4567 0.6850 2 Familial prostate cancer;Familial meningioma;Glioma susceptibility 2;PTEN hamartoma tumor syndrome;Cowden syndrome 1;Macrocephaly-autism syndrome 0.000 dominant HG002 HG002 chr10:87958144:C:T 1,.,. 1.31416e-05 0 2 -1 -1 -1 PTEN 50_intron 45,.,. 0.533333,.,. PTEN/intron/ 0.0487 0.4567 0.6850 2 Familial prostate cancer;Familial meningioma;Glioma susceptibility 2;PTEN hamartoma tumor syndrome;Cowden syndrome 1;Macrocephaly-autism syndrome 0.000 dominant HG002 HG002 chr10:87990107:AT:A 1,.,. 1.3153e-05 0 2 -1 -1 -1 49,.,. 0.510204,.,. dominant HG002 HG002 chr10:88187197:A:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr10:88598990:A:T 1,.,. -1 -1 -1 0.000700771 0 2 LIPJ 50_intron 39,.,. 0.564103,.,. LIPJ/intron/ 0.3021 0.4138 1.0680 5 dominant HG002 HG002 chr10:88785619:G:A 1,.,. -1 -1 -1 -1 -1 -1 RCBTB2P1 53_non_coding 52,.,. 0.461538,.,. RCBTB2P1/non_coding/ dominant HG002 HG002 chr10:88965660:TATA:T 1,.,. -1 -1 -1 -1 -1 -1 STAMBPL1 50_intron 45,.,. 0.4,.,. STAMBPL1/intron/ 0.0000 0.8818 1.1690 6 dominant HG002 HG002 chr10:88965665:T:A 1,.,. -1 -1 -1 -1 -1 -1 STAMBPL1 50_intron 45,.,. 0.4,.,. STAMBPL1/intron/ 0.0000 0.8818 1.1690 6 dominant HG002 HG002 chr10:88977915:C:T 1,.,. -1 -1 -1 0.00140154 0 4 ACTA2 50_intron 51,.,. 0.45098,.,. ACTA2/intron/ 0.9943 0.2910 0.4720 1 Moyamoya disease 5;Multisystemic smooth muscle dysfunction syndrome;Aortic aneurysm, familial thoracic 6 0.000 dominant HG002 HG002 chr10:89248457:T:A 1,.,. -1 -1 -1 -1 -1 -1 LIPA 50_intron 48,.,. 0.416667,.,. LIPA/intron/ 0.0000 0.9563 1.3770 7 Wolman disease 0.000 dominant HG002 HG002 chr10:90546734:A:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr10:90673616:C:CTG 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr10:91637617:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.684211,.,. dominant HG002 HG002 chr10:91942295:A:AAGTTTGT 1,.,. -1 -1 -1 -1 -1 -1 BTAF1 50_intron 28,.,. 0.464286,.,. BTAF1/intron/ 1.0000 0.1583 0.2130 0 dominant HG002 HG002 chr10:92828731:T:A 1,.,. -1 -1 -1 -1 -1 -1 EXOC6 50_intron 22,.,. 0.545455,.,. EXOC6/intron/ 0.0003 0.5559 0.7880 3 dominant HG002 HG002 chr10:92911927:CTCTCTGTGTGCG:C 1,.,. -1 -1 -1 -1 -1 -1 EXOC6 50_intron 42,.,. 0.428571,.,. EXOC6/intron/;EXOC6/non_coding/ 0.0003 0.5559 0.7880 3 dominant HG002 HG002 chr10:93042930:T:A 1,.,. -1 -1 -1 -1 -1 -1 EXOC6 50_intron 38,.,. 0.473684,.,. EXOC6/intron/ 0.0003 0.5559 0.7880 3 dominant HG002 HG002 chr10:93277231:A:AATAT 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.323529,.,. dominant HG002 HG002 chr10:93427209:A:C 1,.,. -1 -1 -1 -1 -1 -1 MYOF 50_intron 30,.,. 0.333333,.,. MYOF/intron/;MYOF/non_coding/ 0.0000 0.8445 0.9450 4 Angioedema, hereditary, 7 0.000 dominant HG002 HG002 chr10:93427213:A:C 1,.,. -1 -1 -1 -1 -1 -1 MYOF 50_intron 30,.,. 0.333333,.,. MYOF/intron/;MYOF/non_coding/ 0.0000 0.8445 0.9450 4 Angioedema, hereditary, 7 0.000 dominant HG002 HG002 chr10:93636366:C:CTCTG 1,.,. -1 -1 -1 -1 -1 -1 PDE6C 50_intron 42,.,. 0.5,.,. PDE6C/intron/ 0.0000 0.7745 0.9760 4 Cone dystrophy 4 0.000 dominant HG002 HG002 chr10:93971425:A:G 1,.,. -1 -1 -1 0.00140154 0 4 38,.,. 0.605263,.,. dominant HG002 HG002 chr10:94179518:T:C 1,.,. 0.000155007 0 3 -1 -1 -1 PLCE1 50_intron 45,.,. 0.377778,.,. PLCE1/intron/ 0.0000 0.4816 0.5640 1 Nephrotic syndrome, type 3 0.000 dominant HG002 HG002 chr10:94310417:A:G 1,.,. -1 -1 -1 -1 -1 -1 PLCE1 50_intron 41,.,. 0.463415,.,. PLCE1/intron/ 0.0000 0.4816 0.5640 1 Nephrotic syndrome, type 3 0.000 dominant HG002 HG002 chr10:94572279:A:C 1,.,. -1 -1 -1 -1 -1 -1 HELLS 50_intron 29,.,. 0.37931,.,. HELLS/intron/;HELLS/non_coding/ 0.6293 0.3815 0.5870 2 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 0.000 dominant HG002 HG002 chr10:94598022:A:T 1,.,. -1 -1 -1 0.000700771 0 2 HELLS 50_intron 30,.,. 0.633333,.,. HELLS/intron/;HELLS/non_coding/ 0.6293 0.3815 0.5870 2 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 0.000 dominant HG002 HG002 chr10:94682747:TTGCAGATTGCCA:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.531915,.,. dominant HG002 HG002 chr10:94682760:C:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.531915,.,. recessive HG002 HG002 chr10:95512646:G:C 2,.,. 0.000105223 0 16 0.000700771 0 2 SORBS1 50_intron 46,.,. 1,.,. SORBS1/intron/;SORBS1/non_coding/ 0.0000 0.5563 0.6900 2 recessive HG002 HG002 chr10:95666936:ATTATCT:A 2,.,. 0.000210266 1 32 0.000700771 0 2 TCTN3 50_intron 43,.,. 1,.,. TCTN3/intron/ 0.0000 0.7443 0.9380 4 Orofacial-digital syndrome IV;Joubert syndrome 18 0.000 recessive HG002 HG002 chr10:95722218:A:T 2,.,. 0.000122934 0 18 0.000700771 0 2 ENTPD1 50_intron 38,.,. 1,.,. ENTPD1/intron/ 0.0000 0.5514 0.7370 2 Hereditary spastic paraplegia 64 0.000 recessive HG002 HG002 chr10:95778481:A:T 2,.,. -1 -1 -1 -1 -1 -1 ENTPD1 50_intron 42,.,. 1,.,. ENTPD1/intron/;ENTPD1/non_coding/ 0.0000 0.5514 0.7370 2 Hereditary spastic paraplegia 64 0.000 recessive HG002 HG002 chr10:95820683:G:A 2,.,. 0.000210214 0 32 0.000700771 0 2 ENTPD1 50_intron 56,.,. 1,.,. ENTPD1/intron/;ENTPD1/non_coding/ 0.0000 0.5514 0.7370 2 Hereditary spastic paraplegia 64 0.000 dominant HG002 HG002 chr10:95877134:T:C 1,.,. -1 -1 -1 -1 -1 -1 ENTPD1 36_3_prime_utr 48,.,. 0.604167,.,. ENTPD1/3_prime_utr/ENST00000371205 0.0000 0.5514 0.7370 2 Hereditary spastic paraplegia 64 0.000 recessive HG002 HG002 chr10:95921051:C:G 2,.,. -1 -1 -1 -1 -1 -1 AL365273.2;CC2D2B 50_intron 37,.,. 1,.,. AL365273.2/intron/;CC2D2B/intron/ 0.0000 0.5955 0.8320 3 recessive HG002 HG002 chr10:95921052:C:A 2,.,. -1 -1 -1 -1 -1 -1 AL365273.2;CC2D2B 50_intron 38,.,. 1,.,. AL365273.2/intron/;CC2D2B/intron/ 0.0000 0.5955 0.8320 3 recessive HG002 HG002 chr10:95921053:A:C 2,.,. -1 -1 -1 -1 -1 -1 AL365273.2;CC2D2B 50_intron 38,.,. 1,.,. AL365273.2/intron/;CC2D2B/intron/ 0.0000 0.5955 0.8320 3 recessive HG002 HG002 chr10:95921054:C:A 2,.,. -1 -1 -1 -1 -1 -1 AL365273.2;CC2D2B 50_intron 38,.,. 1,.,. AL365273.2/intron/;CC2D2B/intron/ 0.0000 0.5955 0.8320 3 recessive HG002 HG002 chr10:95949413:A:C 2,.,. -1 -1 -1 0.000700771 0 2 CC2D2B 50_intron 39,.,. 1,.,. CC2D2B/intron/ 0.0000 0.5955 0.8320 3 recessive HG002 HG002 chr10:96052287:G:T 2,.,. 0.000111676 0 17 0.000700771 0 2 CCNJ 50_intron 45,.,. 1,.,. CCNJ/intron/ 0.9839 0.3067 0.4970 1 recessive HG002 HG002 chr10:96059587:CTG:C 2,.,. -1 -1 -1 -1 -1 -1 CCNJ 36_3_prime_utr 39,.,. 1,.,. CCNJ/3_prime_utr/ENST00000265992;CCNJ/3_prime_utr/ENST00000465148;CCNJ/3_prime_utr/ENST00000403870 0.9839 0.3067 0.4970 1 recessive HG002 HG002 chr10:96059594:A:G 2,.,. -1 -1 -1 -1 -1 -1 CCNJ 36_3_prime_utr 40,.,. 1,.,. CCNJ/3_prime_utr/ENST00000265992;CCNJ/3_prime_utr/ENST00000465148 0.9839 0.3067 0.4970 1 recessive HG002 HG002 chr10:96128101:A:T 2,.,. 0.000111726 0 17 0.000700771 0 2 34,.,. 1,.,. recessive HG002 HG002 chr10:96128657:TG:T 2,.,. 0.000928866 0 141 0.00175193 0 5 32,.,. 1,.,. recessive HG002 HG002 chr10:96178746:A:T 2,.,. 0.000111814 0 17 0.000700771 0 2 ZNF518A 53_non_coding 60,.,. 1,.,. ZNF518A/non_coding/ 0.0080 0.4381 0.5590 1 recessive HG002 HG002 chr10:96213560:G:A 2,.,. 0.000111805 0 17 0.000700771 0 2 BLNK 50_intron 29,.,. 1,.,. BLNK/intron/ 0.9044 0.3724 0.5170 1 Agammaglobulinemia 4, autosomal recessive 0.000 dominant HG002 HG002 chr10:96237529:C:T 1,.,. -1 -1 -1 -1 -1 -1 BLNK 50_intron 22,.,. 0.409091,.,. BLNK/intron/ 0.9044 0.3724 0.5170 1 Agammaglobulinemia 4, autosomal recessive 0.000 dominant HG002 HG002 chr10:96242504:C:G 1,.,. -1 -1 -1 -1 -1 -1 BLNK 50_intron 32,.,. 0.46875,.,. BLNK/intron/ 0.9044 0.3724 0.5170 1 Agammaglobulinemia 4, autosomal recessive 0.000 recessive HG002 HG002 chr10:96331978:A:T 2,.,. 0.000302286 0 46 0.000700771 0 2 DNTT 50_intron 34,.,. 1,.,. DNTT/intron/ 0.0000 0.7282 0.9420 4 recessive HG002 HG002 chr10:96383417:C:T 2,.,. 0.000663505 0 101 0.00105116 0 3 TLL2 50_intron 29,.,. 1,.,. TLL2/intron/ 0.0000 0.8413 0.9900 5 recessive HG002 HG002 chr10:96392931:G:T 2,.,. 0.00059745 0 91 0.00105116 0 3 TLL2 50_intron 30,.,. 1,.,. TLL2/intron/ 0.0000 0.8413 0.9900 5 recessive HG002 HG002 chr10:96473134:C:T 2,.,. 0.000111786 0 17 0.000700771 0 2 TLL2 50_intron 34,.,. 1,.,. TLL2/intron/;TLL2/non_coding/ 0.0000 0.8413 0.9900 5 recessive HG002 HG002 chr10:96515515:C:T 2,.,. 0.000262784 0 40 0.000700771 0 2 37,.,. 1,.,. dominant HG002 HG002 chr10:96523142:C:A 1,.,. -1 -1 -1 -1 -1 -1 TM9SF3 50_intron 39,.,. 0.538462,.,. TM9SF3/intron/;TM9SF3/non_coding/ 1.0000 0.1502 0.2620 0 recessive HG002 HG002 chr10:96628793:A:C 2,.,. 0.000257937 0 39 0.000700771 0 2 PIK3AP1 50_intron 37,.,. 1,.,. PIK3AP1/intron/;PIK3AP1/non_coding/ 1.0000 0.2343 0.3400 0 recessive HG002 HG002 chr10:96628795:T:A 2,.,. 0.000258823 0 39 0.000700771 0 2 PIK3AP1 50_intron 37,.,. 1,.,. PIK3AP1/intron/;PIK3AP1/non_coding/ 1.0000 0.2343 0.3400 0 recessive HG002 HG002 chr10:96635964:T:C 2,.,. 0.00015204 0 23 0.000700771 0 2 PIK3AP1 50_intron 30,.,. 1,.,. PIK3AP1/intron/;PIK3AP1/non_coding/ 1.0000 0.2343 0.3400 0 recessive HG002 HG002 chr10:96682498:G:A 2,.,. 0.00496832 4 756 0.00455501 0 13 PIK3AP1 50_intron 33,.,. 1,.,. PIK3AP1/intron/;PIK3AP1/non_coding/ 1.0000 0.2343 0.3400 0 recessive HG002 HG002 chr10:96748838:G:T 2,.,. 0.00202355 0 308 0.00140154 0 4 34,.,. 1,.,. dominant HG002 HG002 chr10:96787257:G:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.464286,.,. recessive HG002 HG002 chr10:96871569:C:T 2,.,. 0.00198131 0 296 0.00350385 0 10 LCOR 50_intron 33,.,. 1,.,. LCOR/intron/;LCOR/non_coding/ 1.0000 0.2162 0.3380 0 recessive HG002 HG002 chr10:96873637:C:G 2,.,. 0.0019119 0 285 0.00350385 0 10 LCOR 50_intron 33,.,. 1,.,. LCOR/intron/;LCOR/non_coding/ 1.0000 0.2162 0.3380 0 recessive HG002 HG002 chr10:96891332:A:G 2,.,. 0.0019629 0 298 0.00350385 0 10 LCOR 50_intron 45,.,. 1,.,. LCOR/intron/;LCOR/non_coding/ 1.0000 0.2162 0.3380 0 recessive HG002 HG002 chr10:96913515:A:G 2,.,. 0.00187753 0 286 0.00350385 0 10 LCOR 50_intron 45,.,. 1,.,. LCOR/intron/;LCOR/non_coding/ 1.0000 0.2162 0.3380 0 recessive HG002 HG002 chr10:96922402:A:G 2,.,. 7.88519e-05 0 12 0.000700771 0 2 LCOR 50_intron 30,.,. 1,.,. LCOR/intron/;LCOR/non_coding/ 1.0000 0.2162 0.3380 0 recessive HG002 HG002 chr10:96941008:G:A 2,.,. 0.00180746 0 236 0.00350385 0 10 LCOR 50_intron 47,.,. 1,.,. LCOR/intron/;LCOR/non_coding/ 1.0000 0.2162 0.3380 0 recessive HG002 HG002 chr10:96944529:A:G 2,.,. 8.55736e-05 0 13 0.000700771 0 2 LCOR 50_intron 40,.,. 1,.,. LCOR/intron/;LCOR/non_coding/ 1.0000 0.2162 0.3380 0 recessive HG002 HG002 chr10:97035121:C:T 2,.,. -1 -1 -1 -1 -1 -1 SLIT1 50_intron 34,.,. 1,.,. SLIT1/intron/ 1.0000 0.3464 0.4310 1 recessive HG002 HG002 chr10:97108345:AAGG:A 2,.,. 7.22676e-05 0 11 0.000700771 0 2 SLIT1 50_intron 29,.,. 1,.,. SLIT1/intron/ 1.0000 0.3464 0.4310 1 recessive HG002 HG002 chr10:97114053:G:C 2,.,. 7.23085e-05 0 11 0.000700771 0 2 SLIT1 50_intron 22,.,. 1,.,. SLIT1/intron/ 1.0000 0.3464 0.4310 1 recessive HG002 HG002 chr10:97116610:G:A 2,.,. 7.22686e-05 0 11 0.000700771 0 2 SLIT1 50_intron 20,.,. 1,.,. SLIT1/intron/ 1.0000 0.3464 0.4310 1 recessive HG002 HG002 chr10:97148476:G:GACGGGGTCTT 2,.,. -1 -1 -1 -1 -1 -1 SLIT1 50_intron 42,.,. 1,.,. SLIT1/intron/ 1.0000 0.3464 0.4310 1 recessive HG002 HG002 chr10:97148477:C:G 2,.,. -1 -1 -1 -1 -1 -1 SLIT1 50_intron 42,.,. 1,.,. SLIT1/intron/ 1.0000 0.3464 0.4310 1 recessive HG002 HG002 chr10:97317062:T:C 2,.,. 6.77617e-05 0 10 0.000700771 0 2 32,.,. 1,.,. recessive HG002 HG002 chr10:97326312:G:A 2,.,. 9.19709e-05 0 14 0.000700771 0 2 27,.,. 1,.,. recessive HG002 HG002 chr10:97353052:C:CACAT 2,.,. 0.000377229 0 57 0.000700771 0 2 25,.,. 1,.,. recessive HG002 HG002 chr10:97375874:C:A 2,.,. 9.20253e-05 0 14 0.000700771 0 2 RRP12 50_intron 26,.,. 1,.,. RRP12/intron/;RRP12/non_coding/ 0.0001 0.4561 0.5610 1 recessive HG002 HG002 chr10:97432347:G:A 2,.,. 6.56927e-05 0 10 0.000700771 0 2 PGAM1 20_splice_region 34,.,. 1,.,. PGAM1/splice_region/ENST00000334828 0.0000 0.9244 1.3430 7 recessive HG002 HG002 chr10:97775068:G:A 2,.,. 9.20302e-05 0 14 0.000700771 0 2 30,.,. 1,.,. recessive HG002 HG002 chr10:97786751:C:T 2,.,. 0.000105148 0 16 0.000700771 0 2 42,.,. 1,.,. recessive HG002 HG002 chr10:97905527:T:C 2,.,. 0.00349903 3 533 0.00420463 0 12 CRTAC1 50_intron 33,.,. 1,.,. CRTAC1/intron/ 0.0000 0.5896 0.7730 3 recessive HG002 HG002 chr10:97971610:C:T 2,.,. 7.22971e-05 0 11 0.000700771 0 2 CRTAC1 50_intron 35,.,. 1,.,. CRTAC1/intron/ 0.0000 0.5896 0.7730 3 recessive HG002 HG002 chr10:98038102:C:T 2,.,. 0.000256094 0 39 0.000700771 0 2 27,.,. 1,.,. dominant HG002 HG002 chr10:98044406:C:T 1,.,. 3.04581e-05 0 1 -1 -1 -1 23,.,. 0.652174,.,. dominant HG002 HG002 chr10:98066733:G:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5625,.,. recessive HG002 HG002 chr10:98104998:G:A 2,.,. 0.00651629 4 988 0.00560617 0 16 37,.,. 1,.,. recessive HG002 HG002 chr10:98180212:C:G 2,.,. 0.000236397 0 36 0.000700771 0 2 R3HCC1L 50_intron 52,.,. 1,.,. R3HCC1L/intron/ 0.0000 0.8058 1.0200 5 recessive HG002 HG002 chr10:98224091:C:G 2,.,. 0.00609387 4 927 0.0049054 0 14 R3HCC1L 50_intron 43,.,. 1,.,. R3HCC1L/intron/ 0.0000 0.8058 1.0200 5 recessive HG002 HG002 chr10:98285116:C:T 2,.,. 7.22847e-05 0 11 0.000700771 0 2 32,.,. 1,.,. recessive HG002 HG002 chr10:98295794:C:T 2,.,. 0.000203524 0 31 0.000700771 0 2 21,.,. 1,.,. recessive HG002 HG002 chr10:98313499:C:T 2,.,. 6.57039e-05 0 10 0.000700771 0 2 24,.,. 1,.,. dominant HG002 HG002 chr10:98370787:C:T 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.566038,.,. recessive HG002 HG002 chr10:98402545:A:G 2,.,. 3.28424e-05 0 5 0.000700771 0 2 PYROXD2 50_intron 33,.,. 1,.,. PYROXD2/non_coding/;PYROXD2/intron/ 0.0000 0.9270 1.1450 6 recessive HG002 HG002 chr10:98410013:G:A 2,.,. 3.94566e-05 0 6 0.000700771 0 2 PYROXD2 50_intron 34,.,. 1,.,. PYROXD2/non_coding/;PYROXD2/intron/ 0.0000 0.9270 1.1450 6 recessive HG002 HG002 chr10:98466028:C:G 2,.,. 5.2559e-05 0 8 0.000700771 0 2 HPSE2 50_intron 33,.,. 1,.,. HPSE2/intron/ 0.0000 0.6231 0.8370 3 Urofacial syndrome type 1 0.000 dominant HG002 HG002 chr10:98597998:A:T 1,.,. 1.36623e-05 0 2 -1 -1 -1 HPSE2 50_intron 36,.,. 0.388889,.,. HPSE2/intron/ 0.0000 0.6231 0.8370 3 Urofacial syndrome type 1 0.000 dominant HG002 HG002 chr10:98639249:G:T 1,.,. 1.31449e-05 0 2 -1 -1 -1 HPSE2 50_intron 41,.,. 0.609756,.,. HPSE2/intron/ 0.0000 0.6231 0.8370 3 Urofacial syndrome type 1 0.000 dominant HG002 HG002 chr10:98669988:G:A 1,.,. 1.31406e-05 0 2 -1 -1 -1 HPSE2 50_intron 38,.,. 0.473684,.,. HPSE2/intron/ 0.0000 0.6231 0.8370 3 Urofacial syndrome type 1 0.000 dominant HG002 HG002 chr10:98783691:G:C 1,.,. -1 -1 -1 -1 -1 -1 HPSE2 50_intron 37,.,. 0.513514,.,. HPSE2/intron/ 0.0000 0.6231 0.8370 3 Urofacial syndrome type 1 0.000 dominant HG002 HG002 chr10:98803538:A:G 1,.,. 1.31536e-05 0 2 -1 -1 -1 HPSE2 50_intron 42,.,. 0.595238,.,. HPSE2/intron/ 0.0000 0.6231 0.8370 3 Urofacial syndrome type 1 0.000 dominant HG002 HG002 chr10:98954604:T:G 1,.,. 1.97169e-05 0 3 -1 -1 -1 HPSE2 50_intron 56,.,. 0.428571,.,. HPSE2/intron/ 0.0000 0.6231 0.8370 3 Urofacial syndrome type 1 0.000 dominant HG002 HG002 chr10:99122299:A:G 1,.,. 1.3152e-05 0 2 -1 -1 -1 HPSE2 50_intron 35,.,. 0.514286,.,. HPSE2/intron/ 0.0000 0.6231 0.8370 3 Urofacial syndrome type 1 0.000 recessive HG002 HG002 chr10:99217574:T:TTTG 2,.,. -1 -1 -1 -1 -1 -1 HPSE2 50_intron 43,.,. 1,.,. HPSE2/intron/ 0.0000 0.6231 0.8370 3 Urofacial syndrome type 1 0.000 recessive HG002 HG002 chr10:99217577:T:G 2,.,. 0.00124191 0 188 0.00210231 0 6 HPSE2 50_intron 44,.,. 1,.,. HPSE2/intron/ 0.0000 0.6231 0.8370 3 Urofacial syndrome type 1 0.000 dominant HG002 HG002 chr10:99420444:G:T 1,.,. 1.31389e-05 0 2 -1 -1 -1 GOT1 50_intron 31,.,. 0.419355,.,. GOT1/intron/;GOT1/non_coding/ 0.0211 0.4702 0.6900 2 ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 dominant HG002 HG002 chr10:99907362:G:C 1,.,. 1.32121e-05 0 2 -1 -1 -1 DNMBP 50_intron 29,.,. 0.448276,.,. DNMBP/intron/ 0.0000 0.5535 0.6640 2 Cataract 48 0.000 dominant HG002 HG002 chr10:100030138:G:T 1,.,. 1.98015e-05 0 3 -1 -1 -1 36,.,. 0.416667,.,. recessive HG002 HG002 chr10:100127343:T:C 2,.,. 0.000700967 0 100 0.000700771 0 2 CYP2C23P 53_non_coding 28,.,. 1,.,. CYP2C23P/non_coding/ dominant HG002 HG002 chr10:100377510:C:T 1,.,. 2.63061e-05 0 4 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr10:100968860:C:G 1,.,. 6.57298e-06 0 1 -1 -1 -1 13,.,. 0.769231,.,. dominant HG002 HG002 chr10:101017872:AAAG:A 1,.,. -1 -1 -1 -1 -1 -1 PDZD7 50_intron 24,.,. 0.416667,.,. PDZD7/intron/ 0.0000 0.8679 1.0570 5 Hearing loss, autosomal recessive 57;Usher syndrome type 2A;Usher syndrome type 2C 0.000 dominant HG002 HG002 chr10:101151516:A:G 1,.,. 6.58146e-06 0 1 -1 -1 -1 31,.,. 0.580645,.,. dominant HG002 HG002 chr10:101164414:G:GTC 1,.,. 6.57047e-06 0 1 -1 -1 -1 18,.,. 0.333333,.,. dominant HG002 HG002 chr10:101182351:C:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr10:101221724:T:A 1,.,. 6.57099e-06 0 1 -1 -1 -1 29,.,. 0.62069,.,. dominant HG002 HG002 chr10:101276378:ATAGC:A 1,.,. 6.57134e-06 0 1 -1 -1 -1 31,.,. 0.322581,.,. dominant HG002 HG002 chr10:101317093:T:TTCCTTCCTTCCTTCCTTCCTTCCTTCCC 1,.,. -1 -1 -1 0.000700771 0 2 26,.,. 0.423077,.,. dominant HG002 HG002 chr10:101445758:C:T 1,.,. 1.31486e-05 0 2 -1 -1 -1 BTRC 50_intron 40,.,. 0.525,.,. BTRC/intron/;BTRC/non_coding/ 0.0019 0.4768 0.6430 2 0.000 dominant HG002 HG002 chr10:101693943:A:G 1,.,. 1.97143e-05 0 3 -1 -1 -1 FBXW4 50_intron 45,.,. 0.6,.,. FBXW4/intron/;FBXW4/non_coding/ 0.0000 0.7684 1.0070 5 0.000 dominant HG002 HG002 chr10:101812300:G:A 1,.,. -1 -1 -1 -1 -1 -1 OGA 50_intron 37,.,. 0.405405,.,. OGA/intron/ 1.0000 0.2107 0.3200 0 dominant HG002 HG002 chr10:102056047:G:C 1,.,. -1 -1 -1 -1 -1 -1 ARMH3 50_intron 42,.,. 0.5,.,. ARMH3/intron/ 0.0000 0.6095 0.7650 3 dominant HG002 HG002 chr10:102093283:C:CT 1,.,. 7.04871e-06 0 1 -1 -1 -1 34,.,. 0.294118,.,. dominant HG002 HG002 chr10:102322294:T:C 1,.,. 6.56901e-06 0 1 -1 -1 -1 GBF1 50_intron 35,.,. 0.485714,.,. GBF1/intron/ 0.0000 0.5302 0.6420 2 Charcot-Marie-Tooth Disease, axonal, type 2GG 0.000 dominant HG002 HG002 chr10:102419612:C:T 1,.,. 6.57246e-06 0 1 -1 -1 -1 PSD 50_intron 22,.,. 0.454545,.,. PSD/intron/;PSD/non_coding/ 0.9210 0.3782 0.5040 1 recessive HG002 HG002 chr10:102449648:T:TTTG 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chr10:102565732:G:A 1,.,. 6.57462e-06 0 1 -1 -1 -1 SUFU 50_intron 32,.,. 0.46875,.,. SUFU/intron/ 1.0000 0.1139 0.2140 0 Basal cell nevus syndrome 2;Familial meningioma;Joubert syndrome 32 0.000 dominant HG002 HG002 chr10:102854170:G:A 1,.,. 6.57471e-06 0 1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr10:103232942:G:C 1,.,. 6.57186e-06 0 1 -1 -1 -1 NT5C2 50_intron 24,.,. 0.625,.,. NT5C2/intron/ 0.0000 0.8077 1.1280 6 Hereditary spastic paraplegia 45 0.000 dominant HG002 HG002 chr10:103315983:T:G 1,.,. -1 -1 -1 -1 -1 -1 PCGF6 50_intron 33,.,. 0.363636,.,. PCGF6/intron/;PCGF6/non_coding/ 0.0001 0.6749 1.0120 5 dominant HG002 HG002 chr10:103677279:C:T 1,.,. 6.5678e-06 0 1 -1 -1 -1 SH3PXD2A 50_intron 28,.,. 0.535714,.,. SH3PXD2A/intron/;SH3PXD2A/non_coding/ 1.0000 0.2692 0.3760 0 dominant HG002 HG002 chr10:103741530:T:C 1,.,. 6.57168e-06 0 1 -1 -1 -1 SH3PXD2A 50_intron 22,.,. 0.5,.,. SH3PXD2A/intron/ 1.0000 0.2692 0.3760 0 dominant HG002 HG002 chr10:103875639:C:T 1,.,. 1.97556e-05 0 3 -1 -1 -1 52,.,. 0.423077,.,. dominant HG002 HG002 chr10:103886366:G:C 1,.,. 6.58519e-06 0 1 -1 -1 -1 STN1 50_intron 46,.,. 0.565217,.,. STN1/intron/;STN1/non_coding/ 0.0000 0.6712 0.9750 4 Cerebroretinal microangiopathy with calcifications and cysts 2 0.000 dominant HG002 HG002 chr10:104164546:C:T 1,.,. 1.31589e-05 0 2 -1 -1 -1 CFAP43 50_intron 36,.,. 0.611111,.,. CFAP43/intron/ 0.0000 0.6710 0.7800 3 Spermatogenic failure 19 0.000 dominant HG002 HG002 chr10:104296151:G:C 1,.,. 6.57471e-06 0 1 -1 -1 -1 GSTO2 50_intron 38,.,. 0.394737,.,. GSTO2/intron/;GSTO2/non_coding/ 0.0000 0.8257 1.2380 7 dominant HG002 HG002 chr10:104307223:G:A 1,.,. 1.31385e-05 0 2 -1 -1 -1 33,.,. 0.636364,.,. dominant HG002 HG002 chr10:104585651:G:C 1,.,. 6.57289e-06 0 1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr10:104719846:A:T 1,.,. 2.62878e-05 0 4 -1 -1 -1 SORCS3 50_intron 40,.,. 0.45,.,. SORCS3/intron/ 0.5441 0.4003 0.5150 1 dominant HG002 HG002 chr10:104787103:G:A 1,.,. 2.62829e-05 0 4 -1 -1 -1 SORCS3 50_intron 31,.,. 0.451613,.,. SORCS3/intron/ 0.5441 0.4003 0.5150 1 dominant HG002 HG002 chr10:104836123:A:G 1,.,. 2.62926e-05 0 4 -1 -1 -1 SORCS3 50_intron 39,.,. 0.461538,.,. SORCS3/intron/ 0.5441 0.4003 0.5150 1 dominant HG002 HG002 chr10:104860900:T:C 1,.,. 6.57272e-06 0 1 -1 -1 -1 SORCS3 50_intron 44,.,. 0.431818,.,. SORCS3/intron/ 0.5441 0.4003 0.5150 1 dominant HG002 HG002 chr10:104940241:T:A 1,.,. -1 -1 -1 -1 -1 -1 SORCS3 50_intron 36,.,. 0.333333,.,. SORCS3/intron/ 0.5441 0.4003 0.5150 1 dominant HG002 HG002 chr10:105125676:T:TACACACACACAC 1,.,. -1 -1 -1 -1 -1 -1 SORCS3 50_intron 38,.,. 0.421053,.,. SORCS3/intron/ 0.5441 0.4003 0.5150 1 dominant HG002 HG002 chr10:105148216:G:A 1,.,. 6.57877e-06 0 1 -1 -1 -1 SORCS3 50_intron 38,.,. 0.5,.,. SORCS3/intron/ 0.5441 0.4003 0.5150 1 dominant HG002 HG002 chr10:105425004:A:G 1,.,. 6.57022e-06 0 1 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr10:105621111:T:C 1,.,. 6.58025e-06 0 1 -1 -1 -1 46,.,. 0.413043,.,. recessive HG002 HG002 chr10:105639365:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr10:105639366:T:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr10:105639367:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr10:105640549:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr10:105926718:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.372093,.,. dominant HG002 HG002 chr10:105967149:CACACATACACACACAT:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr10:106223847:A:T 1,.,. -1 -1 -1 0.00140154 0 4 40,.,. 0.6,.,. dominant HG002 HG002 chr10:106223852:C:T 1,.,. -1 -1 -1 0.00140154 0 4 40,.,. 0.6,.,. dominant HG002 HG002 chr10:106223854:G:GA 1,.,. -1 -1 -1 0.00140154 0 4 40,.,. 0.6,.,. dominant HG002 HG002 chr10:106264732:C:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr10:106272785:T:A 1,.,. 7.64503e-06 0 1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr10:106456371:TATATATATATATATATATATATATATATATACACAC:T 1,.,. -1 -1 -1 0.00105116 1 3 42,.,. 0.52381,.,. dominant HG002 HG002 chr10:106721442:AAGTTCAC:A 1,.,. -1 -1 -1 -1 -1 -1 SORCS1 50_intron 28,.,. 0.464286,.,. SORCS1/intron/ 0.4824 0.4029 0.5060 1 dominant HG002 HG002 chr10:106721451:G:C 1,.,. 8.90155e-05 0 1 -1 -1 -1 SORCS1 50_intron 28,.,. 0.464286,.,. SORCS1/intron/ 0.4824 0.4029 0.5060 1 dominant HG002 HG002 chr10:106758360:CT:C 1,.,. -1 -1 -1 -1 -1 -1 SORCS1 50_intron 30,.,. 0.333333,.,. SORCS1/intron/ 0.4824 0.4029 0.5060 1 dominant HG002 HG002 chr10:107084098:T:G 1,.,. -1 -1 -1 -1 -1 -1 SORCS1 50_intron 47,.,. 0.319149,.,. SORCS1/intron/ 0.4824 0.4029 0.5060 1 dominant HG002 HG002 chr10:107445643:ACACAAC:A 1,.,. 1.97407e-05 0 3 -1 -1 -1 49,.,. 0.408163,.,. dominant HG002 HG002 chr10:107445651:A:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.416667,.,. dominant HG002 HG002 chr10:107506082:T:TTAA 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.375,.,. dominant HG002 HG002 chr10:107522632:C:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr10:107550191:G:C 1,.,. 6.58068e-06 0 1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr10:107572496:G:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. recessive HG002 HG002 chr10:107898445:A:T 2,.,. -1 -1 -1 0.00280308 1 8 27,.,. 1,.,. recessive HG002 HG002 chr10:107898446:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr10:107898447:A:T 2,.,. -1 -1 -1 0.00140154 0 4 27,.,. 1,.,. recessive HG002 HG002 chr10:107898448:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr10:107898449:A:T 2,.,. -1 -1 -1 0.0024527 0 7 27,.,. 1,.,. recessive HG002 HG002 chr10:107898450:A:T 2,.,. -1 -1 -1 0.00175193 0 5 27,.,. 1,.,. recessive HG002 HG002 chr10:107898451:A:T 2,.,. -1 -1 -1 0.0112123 1 32 25,.,. 1,.,. dominant HG002 HG002 chr10:108176963:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. recessive HG002 HG002 chr10:108357339:T:G 2,.,. 6.60014e-06 0 1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr10:108613266:C:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.609756,.,. dominant HG002 HG002 chr10:108884866:G:GTGTGTGTC 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr10:109215100:A:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr10:109376052:G:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr10:109452860:T:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr10:110988228:T:G 1,.,. -1 -1 -1 -1 -1 -1 SHOC2 50_intron 40,.,. 0.575,.,. SHOC2/non_coding/;SHOC2/intron/ 1.0000 0.0638 0.2010 0 Noonan syndrome-like disorder with loose anagen hair 1 0.000 dominant HG002 HG002 chr10:111319109:A:ATGTG 1,.,. 6.39768e-05 0 3 -1 -1 -1 51,.,. 0.490196,.,. dominant HG002 HG002 chr10:111374471:G:A 1,.,. 6.57531e-06 0 1 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr10:111485351:C:T 1,.,. 1.97184e-05 0 3 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr10:112445383:TC:T 1,.,. -1 -1 -1 -1 -1 -1 ZDHHC6 05_frameshift 33,.,. 0.515152,.,. ZDHHC6/frameshift/ENST00000626395;ZDHHC6/frameshift/ENST00000369405;ZDHHC6/frameshift/ENST00000369404 0.0001 0.5497 0.7540 3 dominant HG002 HG002 chr10:112867794:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr10:113190294:G:A 1,.,. 2.04493e-05 0 3 -1 -1 -1 37,.,. 0.702703,.,. dominant HG002 HG002 chr10:113512436:T:A 1,.,. 2.70351e-05 0 2 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr10:114069750:TTG:T 1,.,. 1.24344e-05 0 1 -1 -1 -1 39,.,. 0.307692,.,. dominant HG002 HG002 chr10:114069753:T:G 1,.,. 2.72896e-05 0 2 -1 -1 -1 38,.,. 0.315789,.,. dominant HG002 HG002 chr10:114072226:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr10:114072227:C:CTGTCA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. recessive HG002 HG002 chr10:114306120:T:G 2,.,. -1 -1 -1 0.00210231 0 6 AFAP1L2 50_intron 21,.,. 1,.,. AFAP1L2/intron/ 0.0003 0.4708 0.6050 2 recessive HG002 HG002 chr10:114306123:A:G 2,.,. -1 -1 -1 -1 -1 -1 AFAP1L2 50_intron 18,.,. 1,.,. AFAP1L2/intron/ 0.0003 0.4708 0.6050 2 dominant HG002 HG002 chr10:114354056:C:T 1,.,. 6.56832e-06 0 1 -1 -1 -1 AFAP1L2 50_intron 43,.,. 0.511628,.,. AFAP1L2/intron/;AFAP1L2/non_coding/ 0.0003 0.4708 0.6050 2 dominant HG002 HG002 chr10:114781660:GCGTGTA:G 1,.,. 3.58783e-05 0 1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr10:114837465:A:G 1,.,. 6.56435e-06 0 1 -1 -1 -1 FAM160B1 50_intron 45,.,. 0.511111,.,. FAM160B1/intron/ dominant HG002 HG002 chr10:114912561:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr10:115505285:GGCAT:G 1,.,. -1 -1 -1 -1 -1 -1 ATRNL1 50_intron 43,.,. 0.488372,.,. ATRNL1/intron/;ATRNL1/non_coding/ 0.2826 0.4089 0.5380 1 dominant HG002 HG002 chr10:115505290:C:T 1,.,. -1 -1 -1 -1 -1 -1 ATRNL1 50_intron 43,.,. 0.488372,.,. ATRNL1/intron/;ATRNL1/non_coding/ 0.2826 0.4089 0.5380 1 dominant HG002 HG002 chr10:116009233:G:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.367347,.,. dominant HG002 HG002 chr10:116205592:AAAAGATATATATAT:A 1,.,. -1 -1 -1 -1 -1 -1 GFRA1 50_intron 37,.,. 0.405405,.,. GFRA1/intron/ 0.9977 0.2623 0.4450 1 Renal hypodysplasia/aplasia 4 0.000 dominant HG002 HG002 chr10:116256964:CGAGAGAGCAGA:C 1,.,. -1 -1 -1 -1 -1 -1 GFRA1 50_intron 32,.,. 0.625,.,. GFRA1/intron/ 0.9977 0.2623 0.4450 1 Renal hypodysplasia/aplasia 4 0.000 dominant HG002 HG002 chr10:116256977:G:C 1,.,. -1 -1 -1 -1 -1 -1 GFRA1 50_intron 32,.,. 0.625,.,. GFRA1/intron/ 0.9977 0.2623 0.4450 1 Renal hypodysplasia/aplasia 4 0.000 dominant HG002 HG002 chr10:116256979:C:T 1,.,. -1 -1 -1 -1 -1 -1 GFRA1 50_intron 32,.,. 0.625,.,. GFRA1/intron/ 0.9977 0.2623 0.4450 1 Renal hypodysplasia/aplasia 4 0.000 dominant HG002 HG002 chr10:116256980:CACCCTGAGCCCAGGA:C 1,.,. -1 -1 -1 -1 -1 -1 GFRA1 50_intron 32,.,. 0.625,.,. GFRA1/intron/ 0.9977 0.2623 0.4450 1 Renal hypodysplasia/aplasia 4 0.000 dominant HG002 HG002 chr10:116289953:T:TTCTC 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.4,.,. recessive HG002 HG002 chr10:116502867:A:ATAT 2,.,. -1 -1 -1 0.00420463 0 12 35,.,. 1,.,. recessive HG002 HG002 chr10:116502869:T:A 2,.,. 0.000165549 0 24 0.00350385 0 10 38,.,. 1,.,. dominant HG002 HG002 chr10:116633791:TATA:T 1,.,. -1 -1 -1 -1 -1 -1 PNLIPRP2 50_intron 31,.,. 0.516129,.,. PNLIPRP2/intron/;PNLIPRP2/non_coding/ 0.0000 0.9136 1.2600 7 recessive HG002 HG002 chr10:117037902:G:A 2,.,. 0.005 0 1 -1 -1 -1 SHTN1 50_intron 27,.,. 1,.,. SHTN1/intron/ 0.3251 0.4076 0.6190 2 recessive HG002 HG002 chr10:117037903:A:G 2,.,. -1 -1 -1 -1 -1 -1 SHTN1 50_intron 27,.,. 1,.,. SHTN1/intron/ 0.3251 0.4076 0.6190 2 recessive HG002 HG002 chr10:117037905:G:C 2,.,. -1 -1 -1 0.00175193 0 5 SHTN1 50_intron 27,.,. 1,.,. SHTN1/intron/ 0.3251 0.4076 0.6190 2 dominant HG002 HG002 chr10:117261195:A:AAAAACAAAAC 1,.,. 7.49363e-05 0 3 -1 -1 -1 SLC18A2 50_intron 37,.,. 0.297297,.,. SLC18A2/non_coding/;SLC18A2/intron/ 0.0032 0.4871 0.6800 2 Brain dopamine-serotonin vesicular transport disease 0.000 recessive HG002 HG002 chr10:117276644:A:C 2,.,. -1 -1 -1 0.00175193 0 5 SLC18A2 50_intron 39,.,. 1,.,. SLC18A2/non_coding/;SLC18A2/intron/ 0.0032 0.4871 0.6800 2 Brain dopamine-serotonin vesicular transport disease 0.000 dominant HG002 HG002 chr10:117291227:T:TTTTTATTTTA 1,.,. -1 -1 -1 -1 -1 -1 PDZD8 50_intron 44,.,. 0.409091,.,. PDZD8/intron/;PDZD8/non_coding/ 1.0000 0.1576 0.2510 0 Intellectual developmental disorder with autism and dysmorphic facies 0.000 dominant HG002 HG002 chr10:117291230:A:T 1,.,. 6.69981e-06 0 1 -1 -1 -1 PDZD8 50_intron 44,.,. 0.409091,.,. PDZD8/intron/;PDZD8/non_coding/ 1.0000 0.1576 0.2510 0 Intellectual developmental disorder with autism and dysmorphic facies 0.000 recessive HG002 HG002 chr10:117397622:GGGTT:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr10:117397627:A:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr10:117397629:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr10:117397637:G:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:117397648:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr10:117397649:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:117397652:TACTA:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr10:117397664:A:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr10:117397668:C:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr10:117397669:A:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr10:117397671:GGTGA:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr10:117411036:CCAT:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr10:117411040:G:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr10:117411041:C:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr10:117570921:A:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.586207,.,. dominant HG002 HG002 chr10:117866278:GAGAGAGAGAGAGAGAC:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.413043,.,. dominant HG002 HG002 chr10:117899684:A:G 1,.,. 1.98339e-05 0 3 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr10:118144872:A:T 1,.,. 1.31422e-05 0 2 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr10:118273858:A:G 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.428571,.,. dominant HG002 HG002 chr10:118562298:T:C 1,.,. 1.31947e-05 0 2 -1 -1 -1 42,.,. 0.47619,.,. recessive HG002 HG002 chr10:118632189:A:G 2,.,. 1.97772e-05 0 3 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr10:118632191:C:T 2,.,. 5.27412e-05 0 8 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr10:118675224:G:A 1,.,. 2.62653e-05 0 4 -1 -1 -1 CACUL1 53_non_coding 34,.,. 0.588235,.,. CACUL1/non_coding/ 0.7904 0.3056 0.6430 2 dominant HG002 HG002 chr10:119625316:A:ATATAT 1,.,. 0.000146071 0 3 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr10:119985046:G:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.510204,.,. dominant HG002 HG002 chr10:120827777:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr10:120898842:CTCAGG:C 1,.,. -1 -1 -1 -1 -1 -1 WDR11 50_intron 40,.,. 0.6,.,. WDR11/intron/;WDR11/non_coding/ 0.0000 0.5040 0.6170 2 Intellectual developmental disorder, autosomal recessive 78;Hypogonadotropic hypogonadism 14 with or without anosmia;Hypogonadotropic hypogonadism 7 with or without anosmia 0.000 dominant HG002 HG002 chr10:121192084:G:A 1,.,. 1.31546e-05 0 2 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr10:121398720:C:T 1,.,. 2.63605e-05 0 4 -1 -1 -1 33,.,. 0.666667,.,. dominant HG002 HG002 chr10:121667277:G:T 1,.,. 2.95666e-05 0 4 -1 -1 -1 25,.,. 0.48,.,. dominant HG002 HG002 chr10:121725263:C:T 1,.,. 1.31461e-05 0 2 -1 -1 -1 37,.,. 0.648649,.,. recessive HG002 HG002 chr10:121790952:G:GTGTA 2,.,. 0.0010142 0 6 -1 -1 -1 ATE1 50_intron 52,.,. 1,.,. ATE1/intron/ 0.0005 0.5036 0.6870 2 recessive HG002 HG002 chr10:121790962:A:G 2,.,. 0.000887617 1 134 0.000700771 0 2 ATE1 50_intron 52,.,. 1,.,. ATE1/intron/ 0.0005 0.5036 0.6870 2 dominant HG002 HG002 chr10:121899396:T:C 1,.,. 1.31384e-05 0 2 -1 -1 -1 ATE1 50_intron 36,.,. 0.5,.,. ATE1/intron/;ATE1/non_coding/ 0.0005 0.5036 0.6870 2 dominant HG002 HG002 chr10:121947077:T:C 1,.,. 3.7696e-05 0 4 -1 -1 -1 ATE1-AS1 53_non_coding 33,.,. 0.484848,.,. ATE1-AS1/non_coding/ dominant HG002 HG002 chr10:122028936:G:GCCTTCCCTTCCCTTCCATTC 1,.,. 0.000801282 0 1 0.00140154 0 4 TACC2 50_intron 18,.,. 0.444444,.,. TACC2/intron/;TACC2/non_coding/ 0.0000 0.5738 0.6620 2 dominant HG002 HG002 chr10:122101486:A:G 1,.,. 1.31964e-05 0 2 -1 -1 -1 TACC2 50_intron 21,.,. 0.52381,.,. TACC2/intron/ 0.0000 0.5738 0.6620 2 dominant HG002 HG002 chr10:122156682:T:G 1,.,. 1.97086e-05 0 3 -1 -1 -1 TACC2 50_intron 23,.,. 0.478261,.,. TACC2/intron/;TACC2/non_coding/ 0.0000 0.5738 0.6620 2 dominant HG002 HG002 chr10:122215762:T:G 1,.,. -1 -1 -1 -1 -1 -1 TACC2 50_intron 31,.,. 0.483871,.,. TACC2/intron/;TACC2/non_coding/ 0.0000 0.5738 0.6620 2 dominant HG002 HG002 chr10:122280568:A:T 1,.,. -1 -1 -1 -1 -1 -1 BTBD16 50_intron 38,.,. 0.368421,.,. BTBD16/intron/ 0.0000 1.0016 1.2460 7 dominant HG002 HG002 chr10:122383325:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 PLEKHA1 50_intron 24,.,. 0.375,.,. PLEKHA1/intron/;PLEKHA1/non_coding/ 0.0000 0.6931 0.9560 4 recessive HG002 HG002 chr10:123115657:C:A 2,.,. 0.00522466 0 10 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr10:123364331:G:A 1,.,. 2.62919e-05 0 4 -1 -1 -1 27,.,. 0.407407,.,. dominant HG002 HG002 chr10:123738267:G:GGTTTTT 1,.,. -1 -1 -1 0.00140154 0 4 CPXM2 50_intron 26,.,. 0.423077,.,. CPXM2/non_coding/;CPXM2/intron/ 0.0000 0.7796 0.9740 4 dominant HG002 HG002 chr10:124047213:C:G 1,.,. 1.97151e-05 0 3 0.000700771 0 2 CHST15 50_intron 33,.,. 0.515152,.,. CHST15/intron/ 0.0000 0.5479 0.7430 3 dominant HG002 HG002 chr10:124110411:A:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr10:124530549:C:A 1,.,. 0.000127113 0 2 -1 -1 -1 LHPP 50_intron 28,.,. 0.464286,.,. LHPP/intron/ 0.0000 0.8982 1.2630 7 recessive HG002 HG002 chr10:124610857:CGGGTGA:C 2,.,. 0.00308071 0 10 -1 -1 -1 LHPP 50_intron 20,.,. 1,.,. LHPP/intron/;LHPP/non_coding/ 0.0000 0.8982 1.2630 7 recessive HG002 HG002 chr10:124610881:C:T 2,.,. -1 -1 -1 0.00560617 1 16 LHPP 50_intron 20,.,. 1,.,. LHPP/intron/;LHPP/non_coding/ 0.0000 0.8982 1.2630 7 recessive HG002 HG002 chr10:124787157:AAG:A 2,.,. -1 -1 -1 -1 -1 -1 AC068896.1;EEF1AKMT2 50_intron 17,.,. 1,.,. AC068896.1/intron/;EEF1AKMT2/intron/ 0.0000 1.0391 1.5890 8 recessive HG002 HG002 chr10:124787161:C:G 2,.,. -1 -1 -1 -1 -1 -1 AC068896.1;EEF1AKMT2 50_intron 17,.,. 1,.,. AC068896.1/intron/;EEF1AKMT2/intron/ 0.0000 1.0391 1.5890 8 dominant HG002 HG002 chr10:124905805:T:C 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.48,.,. dominant HG002 HG002 chr10:125053098:A:G 1,.,. -1 -1 -1 -1 -1 -1 CTBP2 50_intron 27,.,. 0.407407,.,. CTBP2/intron/;CTBP2/non_coding/ 0.8178 0.3831 0.5220 1 dominant HG002 HG002 chr10:125371520:C:CTAGGTACTG 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.489796,.,. dominant HG002 HG002 chr10:125371523:A:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.489796,.,. dominant HG002 HG002 chr10:125371524:C:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.489796,.,. dominant HG002 HG002 chr10:125722402:A:G 1,.,. -1 -1 -1 -1 -1 -1 EDRF1 50_intron 43,.,. 0.372093,.,. EDRF1/intron/;EDRF1/non_coding/ 0.0173 0.4265 0.5300 1 dominant HG002 HG002 chr10:126006176:C:T 1,.,. -1 -1 -1 -1 -1 -1 FANK1 50_intron 47,.,. 0.425532,.,. FANK1/intron/;FANK1/non_coding/ 0.0000 0.9910 1.2670 7 recessive HG002 HG002 chr10:126158539:G:GGA 2,.,. 5.23122e-05 0 1 -1 -1 -1 ADAM12 50_intron 36,.,. 1,.,. ADAM12/intron/ 0.0000 0.6664 0.8180 3 recessive HG002 HG002 chr10:126158541:G:A 2,.,. -1 -1 -1 -1 -1 -1 ADAM12 50_intron 36,.,. 1,.,. ADAM12/intron/ 0.0000 0.6664 0.8180 3 dominant HG002 HG002 chr10:126512372:CTGTGTGTGTGTGTCTGTG:C 1,.,. 1.54045e-05 0 1 -1 -1 -1 C10orf90 50_intron 37,.,. 0.486486,.,. C10orf90/intron/;C10orf90/non_coding/ 0.0000 0.8133 1.0320 5 dominant HG002 HG002 chr10:126555520:AAAC:A 1,.,. -1 -1 -1 -1 -1 -1 C10orf90 50_intron 41,.,. 0.487805,.,. C10orf90/intron/;C10orf90/non_coding/ 0.0000 0.8133 1.0320 5 recessive HG002 HG002 chr10:126576708:T:C 2,.,. 0.00014518 2 5 -1 -1 -1 C10orf90 50_intron 40,.,. 1,.,. C10orf90/intron/;C10orf90/non_coding/ 0.0000 0.8133 1.0320 5 dominant HG002 HG002 chr10:126665166:A:G 1,.,. -1 -1 -1 -1 -1 -1 C10orf90 50_intron 40,.,. 0.525,.,. C10orf90/intron/;C10orf90/non_coding/ 0.0000 0.8133 1.0320 5 dominant HG002 HG002 chr10:126705092:A:T 1,.,. -1 -1 -1 -1 -1 -1 C10orf90 53_non_coding 44,.,. 0.454545,.,. C10orf90/non_coding/ 0.0000 0.8133 1.0320 5 dominant HG002 HG002 chr10:126705095:T:A 1,.,. -1 -1 -1 -1 -1 -1 C10orf90 53_non_coding 43,.,. 0.465116,.,. C10orf90/non_coding/ 0.0000 0.8133 1.0320 5 dominant HG002 HG002 chr10:126705096:A:T 1,.,. -1 -1 -1 -1 -1 -1 C10orf90 53_non_coding 43,.,. 0.465116,.,. C10orf90/non_coding/ 0.0000 0.8133 1.0320 5 dominant HG002 HG002 chr10:126759582:A:C 1,.,. -1 -1 -1 -1 -1 -1 C10orf90 53_non_coding 23,.,. 0.521739,.,. C10orf90/non_coding/ 0.0000 0.8133 1.0320 5 dominant HG002 HG002 chr10:126759586:A:T 1,.,. -1 -1 -1 -1 -1 -1 C10orf90 53_non_coding 23,.,. 0.521739,.,. C10orf90/non_coding/ 0.0000 0.8133 1.0320 5 dominant HG002 HG002 chr10:127016733:C:CACCACACA 1,.,. -1 -1 -1 -1 -1 -1 DOCK1 50_intron 24,.,. 0.583333,.,. DOCK1/intron/ 0.0000 0.5491 0.6370 2 dominant HG002 HG002 chr10:127476890:T:G 1,.,. 6.60118e-06 0 1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr10:127521185:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.404255,.,. dominant HG002 HG002 chr10:127637001:T:A 1,.,. 6.57341e-06 0 1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr10:127705684:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr10:127705685:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. recessive HG002 HG002 chr10:127736051:AGCTT:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr10:127736056:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chr10:127739945:ACACCCACACACACCCACACTCATACT:A 1,.,. -1 -1 -1 -1 -1 -1 FOXI2 36_3_prime_utr 30,.,. 0.466667,.,. FOXI2/3_prime_utr/ENST00000388920 0.0000 1.6093 1.9430 9 dominant HG002 HG002 chr10:127836154:T:TGTC 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.32,.,. dominant HG002 HG002 chr10:127836158:T:G 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.36,.,. dominant HG002 HG002 chr10:127848910:CCATCCTGGCTAA:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.586207,.,. dominant HG002 HG002 chr10:128198657:CACATATAT:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr10:128583279:T:TATC 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr10:129564668:C:CCCTCCTCTCCTTCCTCCCCCTCCTCTCCTTCCTCCT 1,.,. -1 -1 -1 0.00105116 0 3 MGMT 50_intron 24,.,. 0.375,.,. MGMT/intron/ 0.0000 0.9182 1.4130 7 0.000 dominant HG002 HG002 chr10:129618768:T:TCAA 1,.,. -1 -1 -1 -1 -1 -1 MGMT 50_intron 26,.,. 0.5,.,. MGMT/intron/ 0.0000 0.9182 1.4130 7 0.000 dominant HG002 HG002 chr10:129618770:T:A 1,.,. 3.87747e-05 0 2 -1 -1 -1 MGMT 50_intron 26,.,. 0.5,.,. MGMT/intron/ 0.0000 0.9182 1.4130 7 0.000 dominant HG002 HG002 chr10:129618771:T:TAATGCTATATTCAATATAAATATATTGCTATATTCAATTGAAACTGGGA 1,.,. -1 -1 -1 -1 -1 -1 MGMT 50_intron 25,.,. 0.52,.,. MGMT/intron/ 0.0000 0.9182 1.4130 7 0.000 dominant HG002 HG002 chr10:129686572:C:CGTCATGTTGGCCAGG 1,.,. -1 -1 -1 -1 -1 -1 MGMT 50_intron 33,.,. 0.393939,.,. MGMT/intron/ 0.0000 0.9182 1.4130 7 0.000 dominant HG002 HG002 chr10:129686573:T:G 1,.,. -1 -1 -1 -1 -1 -1 MGMT 50_intron 32,.,. 0.40625,.,. MGMT/intron/ 0.0000 0.9182 1.4130 7 0.000 dominant HG002 HG002 chr10:130197725:T:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr10:130360696:T:G 1,.,. 3.52734e-05 0 1 -1 -1 -1 27,.,. 0.555556,.,. dominant HG002 HG002 chr10:130757046:AAGAG:A 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr10:130807893:A:C 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.291667,.,. dominant HG002 HG002 chr10:131070588:ATTGCATAG:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr10:131070598:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.361111,.,. dominant HG002 HG002 chr10:131070600:A:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr10:131070601:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr10:131151423:G:A 1,.,. 2.62916e-05 0 4 -1 -1 -1 TCERG1L 50_intron 21,.,. 0.52381,.,. TCERG1L/intron/;TCERG1L/non_coding/ 0.0000 0.8760 1.1480 6 dominant HG002 HG002 chr10:131192945:C:G 1,.,. -1 -1 -1 -1 -1 -1 TCERG1L 50_intron 29,.,. 0.482759,.,. TCERG1L/intron/;TCERG1L/non_coding/ 0.0000 0.8760 1.1480 6 dominant HG002 HG002 chr10:131451566:G:A 1,.,. 1.31444e-05 0 2 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr10:131584273:T:A 1,.,. 8.50376e-05 0 4 -1 -1 -1 41,.,. 0.365854,.,. dominant HG002 HG002 chr10:131647116:C:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.444444,.,. dominant HG002 HG002 chr10:131688217:TACACAAAC:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.384615,.,. dominant HG002 HG002 chr10:131688233:T:C 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.384615,.,. dominant HG002 HG002 chr10:131697336:G:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr10:131982765:C:G 1,.,. 2.8591e-05 0 3 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr10:132596853:GTGTGCA:G 1,.,. -1 -1 -1 -1 -1 -1 INPP5A 50_intron 42,.,. 0.47619,.,. INPP5A/intron/ 0.9999 0.1973 0.3560 0 dominant HG002 HG002 chr10:132596860:T:A 1,.,. -1 -1 -1 -1 -1 -1 INPP5A 50_intron 42,.,. 0.47619,.,. INPP5A/intron/ 0.9999 0.1973 0.3560 0 dominant HG002 HG002 chr10:132769805:C:CCA 1,.,. -1 -1 -1 -1 -1 -1 INPP5A 50_intron 12,.,. 0.583333,.,. INPP5A/intron/ 0.9999 0.1973 0.3560 0 recessive HG002 HG002 chr10:132854917:AATT:A 2,.,. -1 -1 -1 -1 -1 -1 CFAP46 50_intron 25,.,. 1,.,. CFAP46/intron/ 0.0000 0.7980 0.8880 4 recessive HG002 HG002 chr10:132854923:T:A 2,.,. -1 -1 -1 -1 -1 -1 CFAP46 50_intron 25,.,. 1,.,. CFAP46/intron/ 0.0000 0.7980 0.8880 4 dominant HG002 HG002 chr10:132962830:A:G 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.529412,.,. dominant HG002 HG002 chr10:133009372:CGCCA:C 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.736842,.,. dominant HG002 HG002 chr10:133069867:T:G 1,.,. 7.31957e-05 0 1 -1 -1 -1 10,.,. 0.5,.,. dominant HG002 HG002 chr10:133139114:G:T 1,.,. -1 -1 -1 0.000700771 0 2 23,.,. 0.434783,.,. recessive HG002 HG002 chr10:133175585:A:G 2,.,. 0.00362913 4 531 0.00385424 0 11 KNDC1 50_intron 21,.,. 1,.,. KNDC1/intron/;KNDC1/non_coding/ 0.0000 0.6927 0.8150 3 recessive HG002 HG002 chr10:133208534:G:T 2,.,. -1 -1 -1 -1 -1 -1 KNDC1 50_intron 19,.,. 1,.,. KNDC1/intron/ 0.0000 0.6927 0.8150 3 recessive HG002 HG002 chr10:133208535:C:T 2,.,. -1 -1 -1 -1 -1 -1 KNDC1 50_intron 20,.,. 1,.,. KNDC1/intron/ 0.0000 0.6927 0.8150 3 recessive HG002 HG002 chr10:133265257:GCCACGCCCGGCTCCTGCTGCAGCCTCTGCCCCATCTACCA:G 2,.,. 0.00714286 2 17 0.013665 4 39 ADAM8 50_intron 22,.,. 1,.,. ADAM8/intron/ 0.0000 1.2051 1.4230 7 dominant HG002 HG002 chr10:133431576:G:A 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.5,.,. dominant HG002 HG002 chr10:133541778:A:G 1,.,. -1 -1 -1 -1 -1 -1 CYP2E1 53_non_coding 23,.,. 0.478261,.,. CYP2E1/non_coding/ 0.0000 0.6769 0.9140 4 dominant HG002 HG002 chr11:168070:C:T 1,.,. 3.05862e-05 0 4 -1 -1 -1 BET1L 50_intron 24,.,. 0.666667,.,. BET1L/intron/ 0.0000 1.0637 1.6620 8 recessive HG002 HG002 chr11:175661:C:CTAACCCT 2,.,. -1 -1 -1 -1 -1 -1 BET1L 50_intron 28,.,. 1,.,. BET1L/intron/ 0.0000 1.0637 1.6620 8 recessive HG002 HG002 chr11:322445:C:G 2,.,. -1 -1 -1 0.00350385 3 10 IFITM3 50_intron 20,.,. 1,.,. IFITM3/intron/ 0.0164 0.8416 1.6670 8 Influenza, severe, susceptibility to recessive HG002 HG002 chr11:412403:T:G 2,.,. -1 -1 -1 -1 -1 -1 SIGIRR 50_intron 12,.,. 1,.,. SIGIRR/non_coding/;SIGIRR/intron/ 0.0000 1.0410 1.3510 7 recessive HG002 HG002 chr11:412404:C:A 2,.,. -1 -1 -1 -1 -1 -1 SIGIRR 50_intron 12,.,. 1,.,. SIGIRR/non_coding/;SIGIRR/intron/ 0.0000 1.0410 1.3510 7 recessive HG002 HG002 chr11:412486:G:C 2,.,. -1 -1 -1 -1 -1 -1 SIGIRR 50_intron 13,.,. 1,.,. SIGIRR/non_coding/;SIGIRR/intron/ 0.0000 1.0410 1.3510 7 dominant HG002 HG002 chr11:589579:G:GGA 1,.,. -1 -1 -1 -1 -1 -1 PHRF1 50_intron 21,.,. 0.571429,.,. PHRF1/intron/ 0.0004 0.4568 0.5730 1 dominant HG002 HG002 chr11:592209:C:T 1,.,. 6.59152e-06 0 1 -1 -1 -1 PHRF1 50_intron 23,.,. 0.391304,.,. PHRF1/intron/ 0.0004 0.4568 0.5730 1 dominant HG002 HG002 chr11:961381:TGGA:T 1,.,. -1 -1 -1 0.000700771 0 2 AP2A2 50_intron 41,.,. 0.512195,.,. AP2A2/non_coding/;AP2A2/intron/ 0.9999 0.3185 0.4370 1 dominant HG002 HG002 chr11:961527:C:T 1,.,. 2.13444e-05 0 3 -1 -1 -1 AP2A2 50_intron 41,.,. 0.512195,.,. AP2A2/non_coding/;AP2A2/intron/ 0.9999 0.3185 0.4370 1 dominant HG002 HG002 chr11:1091856:CACAG:C 1,.,. 1.97457e-05 0 3 -1 -1 -1 MUC2 50_intron 20,.,. 0.45,.,. MUC2/non_coding/;MUC2/intron/ 0.0000 0.7066 0.8310 3 dominant HG002 HG002 chr11:1091861:A:G 1,.,. -1 -1 -1 -1 -1 -1 MUC2 50_intron 20,.,. 0.45,.,. MUC2/non_coding/;MUC2/intron/ 0.0000 0.7066 0.8310 3 recessive HG002 HG002 chr11:1098351:AAC:A 2,.,. -1 -1 -1 -1 -1 -1 MUC2 53_non_coding 19,.,. 1,.,. MUC2/non_coding/ 0.0000 0.7066 0.8310 3 dominant HG002 HG002 chr11:1143088:AAT:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.607143,.,. dominant HG002 HG002 chr11:1143092:A:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.642857,.,. dominant HG002 HG002 chr11:1171321:CCTCA:C 1,.,. -1 -1 -1 -1 -1 -1 MUC5AC 50_intron 11,.,. 0.454545,.,. MUC5AC/intron/ 0.0000 0.9515 1.1680 6 recessive HG002 HG002 chr11:1348841:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:1358008:C:CTCCCAGGCGG 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr11:1358009:A:G 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chr11:1419147:G:GT 1,.,. -1 -1 -1 -1 -1 -1 BRSK2 50_intron 29,.,. 0.37931,.,. BRSK2/intron/ 1.0000 0.2404 0.3610 0 dominant HG002 HG002 chr11:1419148:C:G 1,.,. -1 -1 -1 -1 -1 -1 BRSK2 50_intron 24,.,. 0.541667,.,. BRSK2/intron/ 1.0000 0.2404 0.3610 0 dominant HG002 HG002 chr11:1445052:C:A 1,.,. 1.97068e-05 0 3 -1 -1 -1 BRSK2 50_intron 15,.,. 0.533333,.,. BRSK2/intron/;BRSK2/non_coding/ 1.0000 0.2404 0.3610 0 dominant HG002 HG002 chr11:1510280:G:GACCCGGGAGGTCAGAGCCAGGGCTGCGGGGGGACCCGGGAGGTGAGAGCCAGGGCTGCGGGGGGACCCGGGAGGTGAGAGCCAGGGCTGCGGGGGGACCCGGGAGGTGAGAGCCAGGGCTGCGGGGGGACCCGGGAGGTGAGAGCCAGGGCTGCGGGGGA 1,.,. -1 -1 -1 0.00105116 0 3 16,.,. 0.5625,.,. dominant HG002 HG002 chr11:1664665:G:A 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.285714,.,. dominant HG002 HG002 chr11:1691003:G:C 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.571429,.,. dominant HG002 HG002 chr11:1928585:T:G 1,.,. 1.97605e-05 0 3 -1 -1 -1 TNNT3 50_intron 25,.,. 0.52,.,. TNNT3/intron/;TNNT3/non_coding/ 0.0000 0.6559 0.8660 4 Arthrogryposis, distal, type 2B2 0.000 dominant HG002 HG002 chr11:2074932:G:A 1,.,. 2.62608e-05 0 4 -1 -1 -1 33,.,. 0.575758,.,. dominant HG002 HG002 chr11:2147270:G:A 1,.,. 2.63186e-05 0 4 -1 -1 -1 AC132217.2;INS-IGF2 50_intron 20,.,. 0.4,.,. AC132217.2/intron/;INS-IGF2/intron/;AC132217.2/non_coding/ 0.0000 0.9501 1.4410 7 dominant HG002 HG002 chr11:2207640:GGTCTGGGA:G 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.380952,.,. recessive HG002 HG002 chr11:2304567:CTA:C 2,.,. -1 -1 -1 -1 -1 -1 TSPAN32 50_intron 20,.,. 1,.,. TSPAN32/intron/;TSPAN32/non_coding/ 0.0000 1.2649 1.6490 8 recessive HG002 HG002 chr11:2304570:T:A 2,.,. -1 -1 -1 -1 -1 -1 TSPAN32 50_intron 21,.,. 1,.,. TSPAN32/intron/;TSPAN32/non_coding/ 0.0000 1.2649 1.6490 8 dominant HG002 HG002 chr11:2421815:GC:G 1,.,. 1.31391e-05 0 2 -1 -1 -1 TRPM5 50_intron 27,.,. 0.518519,.,. TRPM5/intron/ 0.0000 1.1569 1.3450 7 dominant HG002 HG002 chr11:2767168:A:ATGTGTG 1,.,. 6.6585e-06 0 1 -1 -1 -1 KCNQ1 50_intron 26,.,. 0.461538,.,. KCNQ1/intron/ 0.0000 0.7230 0.9150 4 Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Short QT syndrome type 2;Beckwith-Wiedemann syndrome 0.000 dominant HG002 HG002 chr11:2767188:T:A 1,.,. 2.15279e-05 0 3 -1 -1 -1 KCNQ1 50_intron 26,.,. 0.461538,.,. KCNQ1/intron/ 0.0000 0.7230 0.9150 4 Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Short QT syndrome type 2;Beckwith-Wiedemann syndrome 0.000 recessive HG002 HG002 chr11:2803154:G:GCAC 2,.,. -1 -1 -1 0.0024527 0 7 KCNQ1 50_intron 25,.,. 1,.,. KCNQ1/intron/ 0.0000 0.7230 0.9150 4 Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Short QT syndrome type 2;Beckwith-Wiedemann syndrome 0.000 recessive HG002 HG002 chr11:2803161:C:T 2,.,. 6.6357e-06 0 1 -1 -1 -1 KCNQ1 50_intron 26,.,. 1,.,. KCNQ1/intron/ 0.0000 0.7230 0.9150 4 Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Short QT syndrome type 2;Beckwith-Wiedemann syndrome 0.000 dominant HG002 HG002 chr11:2818078:A:G 1,.,. 2.62816e-05 0 4 -1 -1 -1 KCNQ1 50_intron 27,.,. 0.518519,.,. KCNQ1/intron/ 0.0000 0.7230 0.9150 4 Jervell and Lange-Nielsen syndrome 1;Atrial fibrillation, familial, 3;Short QT syndrome type 2;Beckwith-Wiedemann syndrome 0.000 dominant HG002 HG002 chr11:3080413:A:C 1,.,. 2.62743e-05 0 4 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr11:3168663:CTTTTTTTT:C 1,.,. -1 -1 -1 -1 -1 -1 14,.,. 0.571429,.,. dominant HG002 HG002 chr11:3421202:T:A 1,.,. 1.31408e-05 0 2 -1 -1 -1 FAM86GP 53_non_coding 26,.,. 0.423077,.,. FAM86GP/non_coding/ dominant HG002 HG002 chr11:3489559:G:C 1,.,. 1.97353e-05 0 3 -1 -1 -1 AC127526.3 53_non_coding 35,.,. 0.428571,.,. AC127526.3/non_coding/ dominant HG002 HG002 chr11:3655821:C:T 1,.,. 2.6313e-05 0 4 -1 -1 -1 ART1 50_intron 30,.,. 0.5,.,. ART1/intron/;ART1/non_coding/ 0.0000 1.0888 1.4760 8 dominant HG002 HG002 chr11:3674004:G:A 1,.,. 1.31742e-05 0 2 -1 -1 -1 NUP98 50_intron 30,.,. 0.566667,.,. NUP98/intron/ 1.0000 0.1031 0.1550 0 recessive HG002 HG002 chr11:3855607:G:C 2,.,. -1 -1 -1 -1 -1 -1 STIM1 50_intron 29,.,. 1,.,. STIM1/intron/ 0.9950 0.3404 0.4750 1 Myopathy, tubular aggregate, 1;Combined immunodeficiency due to STIM1 deficiency;Stormorken syndrome 0.000 recessive HG002 HG002 chr11:3855608:C:CGCG 2,.,. -1 -1 -1 -1 -1 -1 STIM1 50_intron 29,.,. 1,.,. STIM1/intron/ 0.9950 0.3404 0.4750 1 Myopathy, tubular aggregate, 1;Combined immunodeficiency due to STIM1 deficiency;Stormorken syndrome 0.000 dominant HG002 HG002 chr11:3982167:C:CAT 1,.,. -1 -1 -1 -1 -1 -1 STIM1 50_intron 41,.,. 0.487805,.,. STIM1/intron/ 0.9950 0.3404 0.4750 1 Myopathy, tubular aggregate, 1;Combined immunodeficiency due to STIM1 deficiency;Stormorken syndrome 0.000 dominant HG002 HG002 chr11:3982170:G:T 1,.,. -1 -1 -1 -1 -1 -1 STIM1 50_intron 41,.,. 0.487805,.,. STIM1/intron/ 0.9950 0.3404 0.4750 1 Myopathy, tubular aggregate, 1;Combined immunodeficiency due to STIM1 deficiency;Stormorken syndrome 0.000 dominant HG002 HG002 chr11:3982171:T:A 1,.,. -1 -1 -1 -1 -1 -1 STIM1 50_intron 40,.,. 0.475,.,. STIM1/intron/ 0.9950 0.3404 0.4750 1 Myopathy, tubular aggregate, 1;Combined immunodeficiency due to STIM1 deficiency;Stormorken syndrome 0.000 dominant HG002 HG002 chr11:4249419:G:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr11:4349952:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr11:5010488:G:GA 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.326531,.,. dominant HG002 HG002 chr11:5175801:C:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.538462,.,. recessive HG002 HG002 chr11:5248353:G:A 2,.,. -1 -1 -1 -1 -1 -1 HBG1;AC104389.6 36_3_prime_utr 44,.,. 1,.,. HBG1/3_prime_utr/ENST00000330597;AC104389.6/3_prime_utr/ENST00000642908;AC104389.6/3_prime_utr/ENST00000647543 0.1651 0.5870 1.6440 8 Hereditary persistence of fetal hemoglobin 0.000 recessive HG002 HG002 chr11:5248354:T:G 2,.,. -1 -1 -1 -1 -1 -1 HBG1;AC104389.6 36_3_prime_utr 44,.,. 1,.,. HBG1/3_prime_utr/ENST00000330597;AC104389.6/3_prime_utr/ENST00000642908;AC104389.6/3_prime_utr/ENST00000647543 0.1651 0.5870 1.6440 8 Hereditary persistence of fetal hemoglobin 0.000 dominant HG002 HG002 chr11:5373176:GAC:G 1,.,. -1 -1 -1 -1 -1 -1 HBG2;AC104389.5;OR51B5 50_intron 41,.,. 0.414634,.,. HBG2/intron/;AC104389.5/intron/;OR51B5/non_coding/;OR51B5/intron/ 0.9614;;0.3093 0.0000;;0.0000 0.3800;;1.8760 0;;9 Hereditary persistence of fetal hemoglobin;Cyanosis, transient neonatal 0.000 dominant HG002 HG002 chr11:5373180:T:A 1,.,. -1 -1 -1 -1 -1 -1 HBG2;AC104389.5;OR51B5 50_intron 39,.,. 0.435897,.,. HBG2/intron/;AC104389.5/intron/;OR51B5/non_coding/;OR51B5/intron/ 0.9614;;0.3093 0.0000;;0.0000 0.3800;;1.8760 0;;9 Hereditary persistence of fetal hemoglobin;Cyanosis, transient neonatal 0.000 dominant HG002 HG002 chr11:5547552:TTAAAC:T 1,.,. -1 -1 -1 -1 -1 -1 AC104389.5;OR52H1 50_intron 49,.,. 0.55102,.,. AC104389.5/intron/;OR52H1/intron/ 0.0543 1.6580 1.9310 9 dominant HG002 HG002 chr11:5547560:C:T 1,.,. -1 -1 -1 -1 -1 -1 AC104389.5;OR52H1 50_intron 49,.,. 0.55102,.,. AC104389.5/intron/;OR52H1/intron/ 0.0543 1.6580 1.9310 9 dominant HG002 HG002 chr11:5549455:C:CCAACAATTCTGAAAGCCAAGTCAGTTTTTGTCAATGTTTGTCAAACGTTTGCTAAATACTGTTGAATGTGTTAATTAATAAAGATGGCCAGGAGTCCACT 1,.,. -1 -1 -1 0.00105116 0 3 AC104389.5 50_intron 41,.,. 0.487805,.,. AC104389.5/intron/ dominant HG002 HG002 chr11:5583576:CTTTTTCA:C 1,.,. -1 -1 -1 -1 -1 -1 AC104389.5 50_intron 42,.,. 0.380952,.,. AC104389.5/intron/;AC104389.5/non_coding/ dominant HG002 HG002 chr11:5583584:T:A 1,.,. -1 -1 -1 -1 -1 -1 AC104389.5 50_intron 39,.,. 0.410256,.,. AC104389.5/intron/;AC104389.5/non_coding/ dominant HG002 HG002 chr11:6100734:A:AATAATAG 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr11:6100737:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr11:6269143:GTGAAGTATTT:G 1,.,. 0.000176819 0 4 -1 -1 -1 CCKBR 50_intron 31,.,. 0.290323,.,. CCKBR/intron/ 0.0000 0.8825 1.1800 6 dominant HG002 HG002 chr11:6269155:T:A 1,.,. -1 -1 -1 -1 -1 -1 CCKBR 50_intron 33,.,. 0.272727,.,. CCKBR/intron/ 0.0000 0.8825 1.1800 6 dominant HG002 HG002 chr11:6436131:A:T 1,.,. -1 -1 -1 -1 -1 -1 HPX 50_intron 37,.,. 0.486486,.,. HPX/intron/;HPX/non_coding/ 0.0000 0.7128 0.9160 4 recessive HG002 HG002 chr11:6673268:A:T 2,.,. 0.0082059 0 1099 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr11:6865022:T:C 1,.,. -1 -1 -1 -1 -1 -1 OR10A2 50_intron 30,.,. 0.5,.,. OR10A2/intron/ 0.0000 1.0514 1.6060 8 recessive HG002 HG002 chr11:7063878:A:G 2,.,. 0.00383079 1 583 0.00455501 0 13 NLRP14 50_intron 43,.,. 1,.,. NLRP14/intron/ 0.0000 0.9907 1.1790 6 recessive HG002 HG002 chr11:7113526:T:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:7115226:G:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr11:7243071:T:A 2,.,. 0.00202523 2 306 0.013665 0 39 SYT9 50_intron 37,.,. 1,.,. SYT9/intron/ 0.0219 0.4597 0.6560 2 recessive HG002 HG002 chr11:7251132:A:C 2,.,. 0.00204751 0 262 0.00175193 0 5 SYT9 50_intron 39,.,. 1,.,. SYT9/intron/ 0.0219 0.4597 0.6560 2 recessive HG002 HG002 chr11:7380290:G:T 2,.,. 0.00442443 3 673 0.00280308 0 8 SYT9 50_intron 41,.,. 1,.,. SYT9/intron/ 0.0219 0.4597 0.6560 2 recessive HG002 HG002 chr11:7403580:G:C 2,.,. 0.00612571 3 921 0.00630694 0 18 SYT9 50_intron 53,.,. 1,.,. SYT9/intron/ 0.0219 0.4597 0.6560 2 dominant HG002 HG002 chr11:7682215:C:G 1,.,. 2.62764e-05 0 4 -1 -1 -1 34,.,. 0.5,.,. recessive HG002 HG002 chr11:7687308:A:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr11:7743023:G:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr11:7803295:A:AATAT 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.346154,.,. dominant HG002 HG002 chr11:7962108:T:C 1,.,. -1 -1 -1 -1 -1 -1 NLRP10 50_intron 42,.,. 0.5,.,. NLRP10/intron/ 0.0579 0.6001 1.2580 7 recessive HG002 HG002 chr11:8174968:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr11:8530944:G:GATGAT 1,.,. 1.31938e-05 0 2 -1 -1 -1 STK33 50_intron 50,.,. 0.46,.,. STK33/intron/;STK33/non_coding/ 0.0000 0.7335 1.0110 5 Spermatogenic failure 93 dominant HG002 HG002 chr11:8530945:T:C 1,.,. -1 -1 -1 -1 -1 -1 STK33 50_intron 50,.,. 0.46,.,. STK33/intron/;STK33/non_coding/ 0.0000 0.7335 1.0110 5 Spermatogenic failure 93 dominant HG002 HG002 chr11:8622336:CACA:C 1,.,. -1 -1 -1 -1 -1 -1 TRIM66 50_intron 51,.,. 0.431373,.,. TRIM66/intron/;TRIM66/non_coding/ 0.0000 0.6202 0.7380 2 dominant HG002 HG002 chr11:8622346:AC:A 1,.,. -1 -1 -1 -1 -1 -1 TRIM66 50_intron 50,.,. 0.44,.,. TRIM66/intron/;TRIM66/non_coding/ 0.0000 0.6202 0.7380 2 dominant HG002 HG002 chr11:8628630:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 TRIM66 50_intron 45,.,. 0.4,.,. TRIM66/intron/;TRIM66/non_coding/ 0.0000 0.6202 0.7380 2 dominant HG002 HG002 chr11:8812973:G:A 1,.,. 1.97184e-05 0 3 -1 -1 -1 DENND2B 50_intron 45,.,. 0.511111,.,. DENND2B/intron/;DENND2B/non_coding/ 1.0000 0.2775 0.3730 0 dominant HG002 HG002 chr11:8880352:T:G 1,.,. -1 -1 -1 -1 -1 -1 DENND2B 50_intron 48,.,. 0.416667,.,. DENND2B/intron/;DENND2B/non_coding/ 1.0000 0.2775 0.3730 0 dominant HG002 HG002 chr11:9294438:T:A 1,.,. -1 -1 -1 -1 -1 -1 TMEM41B 50_intron 33,.,. 0.545455,.,. TMEM41B/intron/ 0.2687 0.4228 0.8340 3 dominant HG002 HG002 chr11:9317082:T:C 1,.,. 1.11722e-05 0 1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr11:9317084:T:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr11:9360349:A:T 1,.,. 1.97853e-05 0 3 -1 -1 -1 37,.,. 0.432432,.,. recessive HG002 HG002 chr11:9597990:CCT:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr11:9597993:G:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr11:9647080:CCCTCCCTT:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.294118,.,. dominant HG002 HG002 chr11:9649041:ATGT:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.617647,.,. dominant HG002 HG002 chr11:9649046:A:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.617647,.,. dominant HG002 HG002 chr11:9706043:C:CTGGTGATCTGTATACACTGGTGATCTGTGTATACT 1,.,. -1 -1 -1 -1 -1 -1 SWAP70 50_intron 38,.,. 0.421053,.,. SWAP70/intron/;SWAP70/non_coding/ 0.1140 0.4235 0.5810 1 dominant HG002 HG002 chr11:9706165:T:TTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATGCACTGGTGATCTGTATACACTGGTGATCTGTGTACACTTGGTGATCTGTATGCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATGCAC 1,.,. -1 -1 -1 -1 -1 -1 SWAP70 50_intron 35,.,. 0.4,.,. SWAP70/intron/;SWAP70/non_coding/ 0.1140 0.4235 0.5810 1 dominant HG002 HG002 chr11:9725890:T:G 1,.,. -1 -1 -1 -1 -1 -1 SWAP70 50_intron 38,.,. 0.447368,.,. SWAP70/intron/;SWAP70/non_coding/ 0.1140 0.4235 0.5810 1 dominant HG002 HG002 chr11:9783103:AAGACTGG:A 1,.,. -1 -1 -1 -1 -1 -1 SBF2 50_intron 27,.,. 0.518519,.,. SBF2/intron/;SBF2/non_coding/ 0.0000 0.4936 0.5910 2 Charcot-Marie-Tooth disease type 4B2 0.000 dominant HG002 HG002 chr11:9783111:T:G 1,.,. -1 -1 -1 -1 -1 -1 SBF2 50_intron 27,.,. 0.518519,.,. SBF2/intron/;SBF2/non_coding/ 0.0000 0.4936 0.5910 2 Charcot-Marie-Tooth disease type 4B2 0.000 recessive HG002 HG002 chr11:9908687:T:C 2,.,. -1 -1 -1 -1 -1 -1 SBF2 50_intron 30,.,. 1,.,. SBF2/intron/;SBF2/non_coding/ 0.0000 0.4936 0.5910 2 Charcot-Marie-Tooth disease type 4B2 0.000 dominant HG002 HG002 chr11:10072733:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 SBF2 50_intron 46,.,. 0.347826,.,. SBF2/intron/;SBF2/non_coding/ 0.0000 0.4936 0.5910 2 Charcot-Marie-Tooth disease type 4B2 0.000 dominant HG002 HG002 chr11:10412899:T:G 1,.,. -1 -1 -1 -1 -1 -1 AMPD3 50_intron 33,.,. 0.454545,.,. AMPD3/intron/ 0.0000 0.6551 0.8170 3 Erythrocyte AMP deaminase deficiency 0.000 recessive HG002 HG002 chr11:10505375:C:CAGG 2,.,. -1 -1 -1 -1 -1 -1 AMPD3 50_intron 46,.,. 1,.,. AMPD3/intron/ 0.0000 0.6551 0.8170 3 Erythrocyte AMP deaminase deficiency 0.000 recessive HG002 HG002 chr11:10505380:G:A 2,.,. 6.57289e-06 0 1 -1 -1 -1 AMPD3 50_intron 46,.,. 1,.,. AMPD3/intron/ 0.0000 0.6551 0.8170 3 Erythrocyte AMP deaminase deficiency 0.000 dominant HG002 HG002 chr11:10524312:G:A 1,.,. 2.62864e-05 0 4 -1 -1 -1 RNF141 50_intron 41,.,. 0.634146,.,. RNF141/intron/ 0.0017 0.6913 1.1440 6 dominant HG002 HG002 chr11:10930478:CGT:C 1,.,. 6.60912e-06 0 1 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr11:10930481:A:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. recessive HG002 HG002 chr11:11000546:G:A 2,.,. 0.00326241 0 23 0.000700771 0 2 39,.,. 1,.,. dominant HG002 HG002 chr11:11388906:C:T 1,.,. 1.31375e-05 0 2 -1 -1 -1 GALNT18 50_intron 35,.,. 0.514286,.,. GALNT18/intron/ 0.0000 0.6628 0.8570 3 dominant HG002 HG002 chr11:11913278:C:A 1,.,. -1 -1 -1 0.00140154 0 4 USP47 50_intron 31,.,. 0.516129,.,. USP47/intron/ 1.0000 0.2334 0.3180 0 dominant HG002 HG002 chr11:12168968:A:G 1,.,. -1 -1 -1 -1 -1 -1 MICAL2 50_intron 39,.,. 0.461538,.,. MICAL2/intron/;MICAL2/non_coding/ 0.0000 0.5877 0.7150 2 dominant HG002 HG002 chr11:12295458:C:T 1,.,. -1 -1 -1 0.00105116 0 3 MICAL2 50_intron 41,.,. 0.439024,.,. MICAL2/intron/;MICAL2/non_coding/ 0.0000 0.5877 0.7150 2 dominant HG002 HG002 chr11:12415689:G:T 1,.,. 6.57289e-06 0 1 -1 -1 -1 PARVA 50_intron 34,.,. 0.529412,.,. PARVA/non_coding/;PARVA/intron/ 0.1888 0.4272 0.6790 2 dominant HG002 HG002 chr11:12923475:G:A 1,.,. -1 -1 -1 -1 -1 -1 TEAD1 50_intron 39,.,. 0.564103,.,. TEAD1/intron/ 1.0000 0.1579 0.2760 0 Helicoid peripapillary chorioretinal degeneration 0.000 recessive HG002 HG002 chr11:12929205:C:G 2,.,. -1 -1 -1 0.00280308 0 8 TEAD1 50_intron 42,.,. 1,.,. TEAD1/intron/ 1.0000 0.1579 0.2760 0 Helicoid peripapillary chorioretinal degeneration 0.000 dominant HG002 HG002 chr11:13082693:G:GCCTT 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.580645,.,. dominant HG002 HG002 chr11:13082695:T:C 1,.,. 6.59344e-06 0 1 -1 -1 -1 31,.,. 0.580645,.,. recessive HG002 HG002 chr11:13323489:ATGAGGTCCCC:A 2,.,. -1 -1 -1 -1 -1 -1 ARNTL 50_intron 30,.,. 1,.,. ARNTL/intron/;ARNTL/non_coding/ 1.0000 0.1473 0.2500 0 recessive HG002 HG002 chr11:13323500:A:C 2,.,. -1 -1 -1 -1 -1 -1 ARNTL 50_intron 30,.,. 1,.,. ARNTL/intron/;ARNTL/non_coding/ 1.0000 0.1473 0.2500 0 recessive HG002 HG002 chr11:13544738:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr11:14090845:G:C 1,.,. -1 -1 -1 -1 -1 -1 SPON1 50_intron 25,.,. 0.56,.,. SPON1/intron/ 0.0000 0.5439 0.6870 2 dominant HG002 HG002 chr11:14402806:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr11:14720460:C:T 1,.,. -1 -1 -1 -1 -1 -1 PDE3B 50_intron 37,.,. 0.486486,.,. PDE3B/intron/;PDE3B/non_coding/ 0.0000 0.7175 0.9550 4 recessive HG002 HG002 chr11:15092260:A:AAT 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr11:15092265:T:A 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. dominant HG002 HG002 chr11:15557469:G:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.461538,.,. dominant HG002 HG002 chr11:15678640:G:A 1,.,. 0.00035954 0 3 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr11:15903050:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr11:16201612:T:C 1,.,. -1 -1 -1 -1 -1 -1 SOX6 50_intron 45,.,. 0.622222,.,. SOX6/intron/;SOX6/non_coding/ 1.0000 0.0947 0.1650 0 Tolchin-Le Caignec syndrome 0.000 dominant HG002 HG002 chr11:16437740:T:TATGTGGA 1,.,. -1 -1 -1 -1 -1 -1 SOX6 50_intron 45,.,. 0.466667,.,. SOX6/intron/;SOX6/non_coding/ 1.0000 0.0947 0.1650 0 Tolchin-Le Caignec syndrome 0.000 dominant HG002 HG002 chr11:16437742:C:A 1,.,. -1 -1 -1 -1 -1 -1 SOX6 50_intron 45,.,. 0.466667,.,. SOX6/intron/;SOX6/non_coding/ 1.0000 0.0947 0.1650 0 Tolchin-Le Caignec syndrome 0.000 dominant HG002 HG002 chr11:16437743:A:T 1,.,. -1 -1 -1 -1 -1 -1 SOX6 50_intron 45,.,. 0.466667,.,. SOX6/intron/;SOX6/non_coding/ 1.0000 0.0947 0.1650 0 Tolchin-Le Caignec syndrome 0.000 dominant HG002 HG002 chr11:16437745:A:T 1,.,. -1 -1 -1 -1 -1 -1 SOX6 50_intron 45,.,. 0.466667,.,. SOX6/intron/;SOX6/non_coding/ 1.0000 0.0947 0.1650 0 Tolchin-Le Caignec syndrome 0.000 dominant HG002 HG002 chr11:16437748:A:T 1,.,. -1 -1 -1 -1 -1 -1 SOX6 50_intron 45,.,. 0.466667,.,. SOX6/intron/;SOX6/non_coding/ 1.0000 0.0947 0.1650 0 Tolchin-Le Caignec syndrome 0.000 dominant HG002 HG002 chr11:16485941:A:AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG 1,.,. -1 -1 -1 0.00105116 0 3 SOX6 50_intron 20,.,. 0.35,.,. SOX6/intron/;SOX6/non_coding/ 1.0000 0.0947 0.1650 0 Tolchin-Le Caignec syndrome 0.000 dominant HG002 HG002 chr11:16959226:T:TCCCCATG 1,.,. -1 -1 -1 -1 -1 -1 PLEKHA7 50_intron 25,.,. 0.44,.,. PLEKHA7/intron/;PLEKHA7/non_coding/ 0.0000 0.6139 0.7260 2 dominant HG002 HG002 chr11:16959228:T:C 1,.,. 1.31652e-05 0 2 -1 -1 -1 PLEKHA7 50_intron 24,.,. 0.5,.,. PLEKHA7/intron/;PLEKHA7/non_coding/ 0.0000 0.6139 0.7260 2 dominant HG002 HG002 chr11:17024248:A:AACAC 1,.,. -1 -1 -1 -1 -1 -1 OR7E14P 53_non_coding 26,.,. 0.5,.,. OR7E14P/non_coding/ dominant HG002 HG002 chr11:17144151:T:C 1,.,. -1 -1 -1 -1 -1 -1 PIK3C2A 50_intron 33,.,. 0.484848,.,. PIK3C2A/non_coding/;PIK3C2A/intron/ 0.0031 0.4697 0.6340 2 Oculocerebrodental syndrome 0.000 recessive HG002 HG002 chr11:17346470:T:TCTA 2,.,. -1 -1 -1 -1 -1 -1 NUCB2 50_intron 29,.,. 1,.,. NUCB2/intron/;NUCB2/non_coding/ 0.0588 0.5979 1.2540 7 recessive HG002 HG002 chr11:17346471:T:A 2,.,. -1 -1 -1 -1 -1 -1 NUCB2 50_intron 29,.,. 1,.,. NUCB2/intron/;NUCB2/non_coding/ 0.0588 0.5979 1.2540 7 dominant HG002 HG002 chr11:17468915:T:A 1,.,. -1 -1 -1 -1 -1 -1 ABCC8 50_intron 33,.,. 0.454545,.,. ABCC8/intron/;ABCC8/non_coding/ 0.0000 0.7193 0.8290 3 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 12;Type 2 diabetes mellitus;Diabetes mellitus, transient neonatal, 2;Hyperinsulinemic hypoglycemia, familial, 1;Diabetes mellitus, permanent neonatal 3;Leucine-induced hypoglycemia 0.000 dominant HG002 HG002 chr11:17555206:G:GGAGAT 1,.,. -1 -1 -1 -1 -1 -1 OTOG 50_intron 33,.,. 0.575758,.,. OTOG/intron/;OTOG/non_coding/ 0.0000 0.9895 1.0910 5 Autosomal recessive nonsyndromic hearing loss 18B 0.000 dominant HG002 HG002 chr11:17771249:G:GGTCACT 1,.,. -1 -1 -1 -1 -1 -1 KCNC1 50_intron 33,.,. 0.515152,.,. KCNC1/intron/;KCNC1/non_coding/ 0.9999 0.2009 0.3630 0 Progressive myoclonic epilepsy type 7 0.000 dominant HG002 HG002 chr11:17771250:C:T 1,.,. -1 -1 -1 -1 -1 -1 KCNC1 50_intron 32,.,. 0.53125,.,. KCNC1/intron/;KCNC1/non_coding/ 0.9999 0.2009 0.3630 0 Progressive myoclonic epilepsy type 7 0.000 dominant HG002 HG002 chr11:17783914:T:TGGGA 1,.,. -1 -1 -1 -1 -1 -1 KCNC1 50_intron 33,.,. 0.393939,.,. KCNC1/intron/ 0.9999 0.2009 0.3630 0 Progressive myoclonic epilepsy type 7 0.000 dominant HG002 HG002 chr11:17896865:AGGGAAGGGAAG:A 1,.,. 0.000221729 0 1 -1 -1 -1 SERGEF 50_intron 21,.,. 0.52381,.,. SERGEF/intron/;SERGEF/non_coding/ 0.0000 0.8119 1.1010 6 recessive HG002 HG002 chr11:18215150:TGGTGC:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr11:18215156:A:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr11:18422268:AATC:A 1,.,. -1 -1 -1 -1 -1 -1 LDHC 50_intron 33,.,. 0.575758,.,. LDHC/intron/ 0.0028 1.1700 1.8670 9 dominant HG002 HG002 chr11:18422272:A:T 1,.,. -1 -1 -1 -1 -1 -1 LDHC 50_intron 32,.,. 0.59375,.,. LDHC/intron/ 0.0028 1.1700 1.8670 9 dominant HG002 HG002 chr11:18507335:C:T 1,.,. -1 -1 -1 -1 -1 -1 TSG101 50_intron 48,.,. 0.520833,.,. TSG101/intron/;TSG101/non_coding/ 0.1187 0.4341 0.6510 2 dominant HG002 HG002 chr11:18676040:T:TTC 1,.,. 9.97347e-06 0 1 -1 -1 -1 45,.,. 0.311111,.,. dominant HG002 HG002 chr11:18886659:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.348837,.,. dominant HG002 HG002 chr11:19261227:GGGCGACAGAGCGA:G 1,.,. 2.07555e-05 0 1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr11:19261242:A:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. recessive HG002 HG002 chr11:19404552:AGCTTTAACC:A 2,.,. -1 -1 -1 -1 -1 -1 NAV2 50_intron 34,.,. 1,.,. NAV2/intron/ 1.0000 0.2265 0.2880 0 recessive HG002 HG002 chr11:19404562:C:A 2,.,. -1 -1 -1 -1 -1 -1 NAV2 50_intron 34,.,. 1,.,. NAV2/intron/ 1.0000 0.2265 0.2880 0 dominant HG002 HG002 chr11:19422598:CCT:C 1,.,. -1 -1 -1 -1 -1 -1 NAV2 50_intron 43,.,. 0.488372,.,. NAV2/intron/ 1.0000 0.2265 0.2880 0 dominant HG002 HG002 chr11:19422603:C:T 1,.,. -1 -1 -1 -1 -1 -1 NAV2 50_intron 42,.,. 0.5,.,. NAV2/intron/ 1.0000 0.2265 0.2880 0 dominant HG002 HG002 chr11:19765740:G:GAGCAACAT 1,.,. -1 -1 -1 -1 -1 -1 NAV2 50_intron 36,.,. 0.527778,.,. NAV2/intron/ 1.0000 0.2265 0.2880 0 dominant HG002 HG002 chr11:19765742:T:G 1,.,. -1 -1 -1 -1 -1 -1 NAV2 50_intron 37,.,. 0.513514,.,. NAV2/intron/ 1.0000 0.2265 0.2880 0 dominant HG002 HG002 chr11:19799188:G:A 1,.,. 1.97153e-05 0 3 -1 -1 -1 NAV2 50_intron 38,.,. 0.447368,.,. NAV2/intron/;NAV2/non_coding/ 1.0000 0.2265 0.2880 0 dominant HG002 HG002 chr11:19851894:TATAAG:T 1,.,. -1 -1 -1 -1 -1 -1 NAV2 50_intron 31,.,. 0.548387,.,. NAV2/intron/;NAV2/non_coding/ 1.0000 0.2265 0.2880 0 dominant HG002 HG002 chr11:19930021:T:C 1,.,. 2.62822e-05 0 4 -1 -1 -1 NAV2 50_intron 34,.,. 0.617647,.,. NAV2/intron/ 1.0000 0.2265 0.2880 0 dominant HG002 HG002 chr11:20338765:G:T 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.490909,.,. recessive HG002 HG002 chr11:20823954:T:C 2,.,. 0.000178472 0 27 -1 -1 -1 NELL1 50_intron 25,.,. 1,.,. NELL1/intron/;NELL1/non_coding/ 0.0000 0.6665 0.8260 3 dominant HG002 HG002 chr11:20992520:T:A 1,.,. -1 -1 -1 -1 -1 -1 NELL1 50_intron 34,.,. 0.411765,.,. NELL1/intron/;NELL1/non_coding/ 0.0000 0.6665 0.8260 3 dominant HG002 HG002 chr11:21309272:ATATATATG:A 1,.,. 4.41228e-05 0 1 -1 -1 -1 NELL1 50_intron 42,.,. 0.357143,.,. NELL1/intron/;NELL1/non_coding/ 0.0000 0.6665 0.8260 3 dominant HG002 HG002 chr11:21309290:A:G 1,.,. 8.08172e-06 0 1 -1 -1 -1 NELL1 50_intron 38,.,. 0.421053,.,. NELL1/intron/;NELL1/non_coding/ 0.0000 0.6665 0.8260 3 dominant HG002 HG002 chr11:21315883:TGGTGTGA:T 1,.,. -1 -1 -1 -1 -1 -1 NELL1 50_intron 36,.,. 0.527778,.,. NELL1/intron/;NELL1/non_coding/ 0.0000 0.6665 0.8260 3 recessive HG002 HG002 chr11:21458020:G:GTGAT 2,.,. 0.00021966 0 4 -1 -1 -1 NELL1 50_intron 55,.,. 1,.,. NELL1/intron/;NELL1/non_coding/ 0.0000 0.6665 0.8260 3 dominant HG002 HG002 chr11:21571516:G:A 1,.,. -1 -1 -1 -1 -1 -1 NELL1 50_intron 36,.,. 0.388889,.,. NELL1/intron/;NELL1/non_coding/ 0.0000 0.6665 0.8260 3 dominant HG002 HG002 chr11:21591258:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr11:21776974:C:T 1,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.616667,.,. recessive HG002 HG002 chr11:21963630:C:CTG 2,.,. -1 -1 -1 -1 -1 -1 ANO5 53_non_coding 40,.,. 1,.,. ANO5/non_coding/ 0.0000 0.8665 1.0340 5 Miyoshi muscular dystrophy 3;Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia 0.000 recessive HG002 HG002 chr11:21963631:A:C 2,.,. 6.59361e-06 0 1 -1 -1 -1 ANO5 53_non_coding 40,.,. 1,.,. ANO5/non_coding/ 0.0000 0.8665 1.0340 5 Miyoshi muscular dystrophy 3;Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia 0.000 recessive HG002 HG002 chr11:21963632:C:T 2,.,. -1 -1 -1 -1 -1 -1 ANO5 53_non_coding 40,.,. 1,.,. ANO5/non_coding/ 0.0000 0.8665 1.0340 5 Miyoshi muscular dystrophy 3;Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia 0.000 dominant HG002 HG002 chr11:22001199:ACAGTGGGTGCAGGACC:A 1,.,. 6.57739e-06 0 1 -1 -1 -1 ANO5 53_non_coding 39,.,. 0.358974,.,. ANO5/non_coding/ 0.0000 0.8665 1.0340 5 Miyoshi muscular dystrophy 3;Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia 0.000 dominant HG002 HG002 chr11:22316463:C:G 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr11:22417301:TATAC:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr11:22433303:A:ACC 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.428571,.,. dominant HG002 HG002 chr11:22463046:C:CACACAA 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr11:22671326:T:C 1,.,. 2.62705e-05 0 4 -1 -1 -1 GAS2 50_intron 57,.,. 0.508772,.,. GAS2/intron/;GAS2/non_coding/ 0.0138 0.4973 0.7550 3 Hearing loss, autosomal recessive 125 dominant HG002 HG002 chr11:22675689:G:T 1,.,. -1 -1 -1 -1 -1 -1 GAS2 50_intron 53,.,. 0.45283,.,. GAS2/intron/;GAS2/non_coding/ 0.0138 0.4973 0.7550 3 Hearing loss, autosomal recessive 125 dominant HG002 HG002 chr11:22691986:G:A 1,.,. 1.97301e-05 0 3 -1 -1 -1 GAS2 50_intron 42,.,. 0.47619,.,. GAS2/intron/;GAS2/non_coding/ 0.0138 0.4973 0.7550 3 Hearing loss, autosomal recessive 125 dominant HG002 HG002 chr11:22699909:C:T 1,.,. 1.9706e-05 0 3 -1 -1 -1 GAS2 50_intron 47,.,. 0.510638,.,. GAS2/intron/;GAS2/non_coding/ 0.0138 0.4973 0.7550 3 Hearing loss, autosomal recessive 125 dominant HG002 HG002 chr11:22701355:A:G 1,.,. 1.97065e-05 0 3 -1 -1 -1 GAS2 50_intron 51,.,. 0.490196,.,. GAS2/intron/;GAS2/non_coding/ 0.0138 0.4973 0.7550 3 Hearing loss, autosomal recessive 125 dominant HG002 HG002 chr11:22703034:A:G 1,.,. 1.96946e-05 0 3 -1 -1 -1 GAS2 50_intron 46,.,. 0.456522,.,. GAS2/intron/ 0.0138 0.4973 0.7550 3 Hearing loss, autosomal recessive 125 dominant HG002 HG002 chr11:22713980:G:A 1,.,. 2.63369e-05 0 4 -1 -1 -1 GAS2 50_intron 40,.,. 0.525,.,. GAS2/intron/ 0.0138 0.4973 0.7550 3 Hearing loss, autosomal recessive 125 dominant HG002 HG002 chr11:22724396:A:G 1,.,. 1.97182e-05 0 3 -1 -1 -1 GAS2 50_intron 44,.,. 0.454545,.,. GAS2/intron/ 0.0138 0.4973 0.7550 3 Hearing loss, autosomal recessive 125 dominant HG002 HG002 chr11:22726046:G:A 1,.,. 1.97135e-05 0 3 -1 -1 -1 GAS2 50_intron 40,.,. 0.5,.,. GAS2/intron/ 0.0138 0.4973 0.7550 3 Hearing loss, autosomal recessive 125 dominant HG002 HG002 chr11:22761551:G:A 1,.,. 1.97086e-05 0 3 -1 -1 -1 GAS2 50_intron 48,.,. 0.416667,.,. GAS2/intron/ 0.0138 0.4973 0.7550 3 Hearing loss, autosomal recessive 125 dominant HG002 HG002 chr11:22884903:C:T 1,.,. 2.62802e-05 0 4 -1 -1 -1 51,.,. 0.588235,.,. dominant HG002 HG002 chr11:22896929:TAATGGAAATGGAAATAC:T 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.574074,.,. dominant HG002 HG002 chr11:22896947:T:C 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.592593,.,. dominant HG002 HG002 chr11:22960158:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr11:23010922:A:T 1,.,. 2.6264e-05 0 4 -1 -1 -1 28,.,. 0.607143,.,. dominant HG002 HG002 chr11:23014631:G:A 1,.,. 2.6294e-05 0 4 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr11:23257924:A:G 1,.,. 1.31541e-05 0 2 -1 -1 -1 50,.,. 0.66,.,. dominant HG002 HG002 chr11:23376886:G:C 1,.,. 4.78072e-05 0 3 -1 -1 -1 AC100767.2 53_non_coding 45,.,. 0.444444,.,. AC100767.2/non_coding/ dominant HG002 HG002 chr11:23413432:C:G 1,.,. 1.31482e-05 0 2 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr11:23673756:C:A 1,.,. 6.57808e-06 0 1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr11:24079258:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr11:24130285:A:T 1,.,. 2.63369e-05 0 4 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr11:24280465:T:C 1,.,. 1.31418e-05 0 2 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr11:24675787:T:TATA 1,.,. -1 -1 -1 -1 -1 -1 LUZP2 50_intron 35,.,. 0.371429,.,. LUZP2/non_coding/;LUZP2/intron/ 0.0042 0.7035 1.2270 6 dominant HG002 HG002 chr11:24675789:A:T 1,.,. 2.92398e-05 0 4 -1 -1 -1 LUZP2 50_intron 35,.,. 0.371429,.,. LUZP2/non_coding/;LUZP2/intron/ 0.0042 0.7035 1.2270 6 recessive HG002 HG002 chr11:24826926:T:A 2,.,. -1 -1 -1 -1 -1 -1 LUZP2 50_intron 56,.,. 0.982143,.,. LUZP2/non_coding/;LUZP2/intron/ 0.0042 0.7035 1.2270 6 dominant HG002 HG002 chr11:24855031:G:C 1,.,. 2.62729e-05 0 4 -1 -1 -1 LUZP2 50_intron 45,.,. 0.533333,.,. LUZP2/non_coding/;LUZP2/intron/ 0.0042 0.7035 1.2270 6 dominant HG002 HG002 chr11:24885449:T:A 1,.,. -1 -1 -1 -1 -1 -1 LUZP2 50_intron 42,.,. 0.5,.,. LUZP2/non_coding/;LUZP2/intron/ 0.0042 0.7035 1.2270 6 dominant HG002 HG002 chr11:25018053:T:G 1,.,. 3.89909e-05 0 2 -1 -1 -1 LUZP2 50_intron 48,.,. 0.416667,.,. LUZP2/intron/ 0.0042 0.7035 1.2270 6 dominant HG002 HG002 chr11:25047602:C:CATTCAG 1,.,. -1 -1 -1 -1 -1 -1 LUZP2 50_intron 47,.,. 0.468085,.,. LUZP2/intron/ 0.0042 0.7035 1.2270 6 dominant HG002 HG002 chr11:25047604:T:A 1,.,. -1 -1 -1 -1 -1 -1 LUZP2 50_intron 47,.,. 0.468085,.,. LUZP2/intron/ 0.0042 0.7035 1.2270 6 dominant HG002 HG002 chr11:25047605:G:A 1,.,. 6.59709e-06 0 1 -1 -1 -1 LUZP2 50_intron 47,.,. 0.468085,.,. LUZP2/intron/ 0.0042 0.7035 1.2270 6 dominant HG002 HG002 chr11:25083577:T:TTGTTTGTTTG 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr11:25193429:A:C 1,.,. 1.31666e-05 0 2 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr11:25193745:G:T 1,.,. 1.321e-05 0 2 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr11:25417618:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.25641,.,. recessive HG002 HG002 chr11:25425230:A:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr11:25425231:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr11:25425232:T:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr11:25511786:A:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.574468,.,. dominant HG002 HG002 chr11:25521370:T:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.511111,.,. recessive HG002 HG002 chr11:25657661:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr11:25690553:G:C 1,.,. 6.62532e-06 0 1 -1 -1 -1 48,.,. 0.4375,.,. dominant HG002 HG002 chr11:25723083:G:A 1,.,. 1.51382e-05 0 1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr11:25902040:T:C 1,.,. 2.43222e-05 0 3 -1 -1 -1 32,.,. 0.53125,.,. recessive HG002 HG002 chr11:25939238:GACAGAATTTGCACTAA:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.981132,.,. recessive HG002 HG002 chr11:25939256:T:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. dominant HG002 HG002 chr11:25941157:T:G 1,.,. 6.56987e-06 0 1 -1 -1 -1 51,.,. 0.588235,.,. dominant HG002 HG002 chr11:25968158:T:A 1,.,. 6.58918e-06 0 1 -1 -1 -1 61,.,. 0.442623,.,. dominant HG002 HG002 chr11:26127885:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.590909,.,. dominant HG002 HG002 chr11:26391965:G:T 1,.,. 1.77255e-05 0 2 0.000700771 0 2 ANO3 50_intron 46,.,. 0.478261,.,. ANO3/intron/ 0.0000 0.7470 0.9110 4 Dystonia 24 0.000 recessive HG002 HG002 chr11:26460438:T:C 2,.,. 0.0150495 1 76 0.00105116 0 3 ANO3 50_intron 33,.,. 1,.,. ANO3/intron/ 0.0000 0.7470 0.9110 4 Dystonia 24 0.000 recessive HG002 HG002 chr11:26510157:T:A 2,.,. -1 -1 -1 0.000700771 0 2 ANO3 50_intron 46,.,. 1,.,. ANO3/intron/ 0.0000 0.7470 0.9110 4 Dystonia 24 0.000 recessive HG002 HG002 chr11:26642486:G:GAAGT 2,.,. -1 -1 -1 -1 -1 -1 ANO3 50_intron 40,.,. 1,.,. ANO3/intron/ 0.0000 0.7470 0.9110 4 Dystonia 24 0.000 recessive HG002 HG002 chr11:26642487:G:A 2,.,. -1 -1 -1 -1 -1 -1 ANO3 50_intron 40,.,. 1,.,. ANO3/intron/ 0.0000 0.7470 0.9110 4 Dystonia 24 0.000 dominant HG002 HG002 chr11:26724503:A:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr11:26762484:T:TG 1,.,. 1.97506e-05 0 3 0.000700771 0 2 38,.,. 0.526316,.,. dominant HG002 HG002 chr11:26783851:A:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr11:27038522:T:TACAC 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.355556,.,. dominant HG002 HG002 chr11:27241141:C:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.377778,.,. dominant HG002 HG002 chr11:27241142:A:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.377778,.,. dominant HG002 HG002 chr11:27259715:G:C 1,.,. 6.57099e-06 0 1 -1 -1 -1 42,.,. 0.428571,.,. recessive HG002 HG002 chr11:27307724:C:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr11:27307725:T:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr11:27454879:A:C 1,.,. 1.31384e-05 0 2 -1 -1 -1 LGR4 50_intron 44,.,. 0.522727,.,. LGR4/intron/ 0.0119 0.4894 0.7260 2 Bone mineral density quantitative trait locus 17;Delayed puberty, self-limited 0.000 recessive HG002 HG002 chr11:27601294:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr11:27621075:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.590909,.,. dominant HG002 HG002 chr11:27622264:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. recessive HG002 HG002 chr11:27685823:G:GGAAGTAATTTTAGAATAAT 2,.,. -1 -1 -1 -1 -1 -1 BDNF 50_intron 25,.,. 1,.,. BDNF/intron/;BDNF/non_coding/ 0.9997 0.0491 0.2330 0 0.000 recessive HG002 HG002 chr11:27685825:G:T 2,.,. -1 -1 -1 -1 -1 -1 BDNF 50_intron 26,.,. 1,.,. BDNF/intron/;BDNF/non_coding/ 0.9997 0.0491 0.2330 0 0.000 recessive HG002 HG002 chr11:27685826:G:T 2,.,. -1 -1 -1 -1 -1 -1 BDNF 50_intron 26,.,. 1,.,. BDNF/intron/;BDNF/non_coding/ 0.9997 0.0491 0.2330 0 0.000 recessive HG002 HG002 chr11:27685827:T:A 2,.,. -1 -1 -1 -1 -1 -1 BDNF 50_intron 26,.,. 1,.,. BDNF/intron/;BDNF/non_coding/ 0.9997 0.0491 0.2330 0 0.000 recessive HG002 HG002 chr11:27685828:C:G 2,.,. -1 -1 -1 -1 -1 -1 BDNF 50_intron 26,.,. 1,.,. BDNF/intron/;BDNF/non_coding/ 0.9997 0.0491 0.2330 0 0.000 dominant HG002 HG002 chr11:28472629:T:A 1,.,. -1 -1 -1 0.000700771 0 2 METTL15 50_intron 44,.,. 0.590909,.,. METTL15/intron/ 0.0000 0.9081 1.2140 6 dominant HG002 HG002 chr11:28473557:A:G 1,.,. -1 -1 -1 0.000700771 0 2 METTL15 50_intron 46,.,. 0.608696,.,. METTL15/intron/ 0.0000 0.9081 1.2140 6 dominant HG002 HG002 chr11:28783017:G:T 1,.,. 1.31477e-05 0 2 -1 -1 -1 38,.,. 0.342105,.,. dominant HG002 HG002 chr11:28867495:A:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.346939,.,. dominant HG002 HG002 chr11:28867496:TTAAA:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.346939,.,. dominant HG002 HG002 chr11:28991339:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr11:29239067:A:G 1,.,. 1.35115e-05 0 2 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr11:29288827:C:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr11:29328215:A:G 1,.,. 6.57108e-06 0 1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr11:29396059:T:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.530612,.,. dominant HG002 HG002 chr11:29472861:TGGAG:T 1,.,. 4.50005e-05 0 1 -1 -1 -1 48,.,. 0.395833,.,. dominant HG002 HG002 chr11:29681654:T:C 1,.,. 1.31589e-05 0 2 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr11:29768019:C:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.55814,.,. dominant HG002 HG002 chr11:29995194:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.372093,.,. dominant HG002 HG002 chr11:30126366:T:C 1,.,. 6.57454e-06 0 1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr11:30301061:G:GTGGTACC 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.444444,.,. dominant HG002 HG002 chr11:30301063:T:A 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.444444,.,. dominant HG002 HG002 chr11:30301064:T:A 1,.,. 6.61e-06 0 1 -1 -1 -1 54,.,. 0.444444,.,. dominant HG002 HG002 chr11:30304457:A:C 1,.,. 1.97135e-05 0 3 -1 -1 -1 55,.,. 0.509091,.,. dominant HG002 HG002 chr11:30432620:T:TA 1,.,. 1.31468e-05 0 2 -1 -1 -1 MPPED2 50_intron 32,.,. 0.3125,.,. MPPED2/intron/;MPPED2/non_coding/ 0.9989 0.1335 0.3450 0 dominant HG002 HG002 chr11:30529049:T:G 1,.,. 1.97156e-05 0 3 -1 -1 -1 MPPED2 50_intron 34,.,. 0.411765,.,. MPPED2/intron/;MPPED2/non_coding/ 0.9989 0.1335 0.3450 0 dominant HG002 HG002 chr11:30638743:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr11:31038072:T:TGTGGG 1,.,. 5.76834e-05 0 1 -1 -1 -1 DCDC1 50_intron 49,.,. 0.326531,.,. DCDC1/intron/;DCDC1/non_coding/ 0.0000 0.9435 1.0930 5 dominant HG002 HG002 chr11:31148620:C:A 1,.,. 1.32118e-05 0 2 -1 -1 -1 DCDC1 50_intron 32,.,. 0.5,.,. DCDC1/intron/;DCDC1/non_coding/ 0.0000 0.9435 1.0930 5 dominant HG002 HG002 chr11:31345598:A:G 1,.,. 1.31468e-05 0 2 -1 -1 -1 DCDC1 50_intron 33,.,. 0.484848,.,. DCDC1/intron/ 0.0000 0.9435 1.0930 5 dominant HG002 HG002 chr11:31407700:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 DNAJC24 50_intron 36,.,. 0.333333,.,. DNAJC24/non_coding/;DNAJC24/intron/ 0.0010 0.8755 1.5140 8 dominant HG002 HG002 chr11:31532832:T:C 1,.,. 2.04296e-05 0 3 -1 -1 -1 ELP4 50_intron 48,.,. 0.5,.,. ELP4/intron/;ELP4/non_coding/ 0.0000 1.0150 1.3770 7 Aniridia 2 0.000 dominant HG002 HG002 chr11:31623378:T:TATATATAA 1,.,. -1 -1 -1 -1 -1 -1 ELP4 50_intron 34,.,. 0.264706,.,. ELP4/intron/;ELP4/non_coding/ 0.0000 1.0150 1.3770 7 Aniridia 2 0.000 dominant HG002 HG002 chr11:31747098:A:C 1,.,. 1.31534e-05 0 2 -1 -1 -1 ELP4 50_intron 46,.,. 0.347826,.,. ELP4/intron/;ELP4/non_coding/ 0.0000 1.0150 1.3770 7 Aniridia 2 0.000 dominant HG002 HG002 chr11:31796537:C:A 1,.,. 2.15335e-05 0 3 -1 -1 -1 PAX6 50_intron 34,.,. 0.441176,.,. PAX6/intron/;PAX6/non_coding/ 1.0000 0.1203 0.2260 0 Coloboma, ocular, autosomal dominant;Irido-corneo-trabecular dysgenesis;Aniridia 1;Isolated optic nerve hypoplasia;Foveal hypoplasia 1;Coloboma of optic nerve;11p partial monosomy syndrome;Autosomal dominant keratitis 0.000 recessive HG002 HG002 chr11:31860608:C:G 2,.,. -1 -1 -1 -1 -1 -1 AL035078.4 50_intron 49,.,. 1,.,. AL035078.4/intron/ recessive HG002 HG002 chr11:31860609:T:A 2,.,. -1 -1 -1 -1 -1 -1 AL035078.4 50_intron 49,.,. 1,.,. AL035078.4/intron/ recessive HG002 HG002 chr11:31860610:G:A 2,.,. -1 -1 -1 -1 -1 -1 AL035078.4 50_intron 48,.,. 1,.,. AL035078.4/intron/ recessive HG002 HG002 chr11:31860612:TGTAGCCTGCTG:T 2,.,. -1 -1 -1 -1 -1 -1 AL035078.4 50_intron 49,.,. 1,.,. AL035078.4/intron/ dominant HG002 HG002 chr11:32018601:G:T 1,.,. -1 -1 -1 -1 -1 -1 AL035078.4 50_intron 38,.,. 0.421053,.,. AL035078.4/intron/ dominant HG002 HG002 chr11:32160935:G:A 1,.,. -1 -1 -1 -1 -1 -1 THEM7P 53_non_coding 46,.,. 0.456522,.,. THEM7P/non_coding/ dominant HG002 HG002 chr11:32227108:T:C 1,.,. -1 -1 -1 -1 -1 -1 THEM7P 53_non_coding 25,.,. 0.56,.,. THEM7P/non_coding/ dominant HG002 HG002 chr11:32268930:G:GGGGAAGGGGAAT 1,.,. 2.28317e-05 0 3 -1 -1 -1 THEM7P 53_non_coding 38,.,. 0.473684,.,. THEM7P/non_coding/ dominant HG002 HG002 chr11:32390971:TTGTTTG:T 1,.,. -1 -1 -1 -1 -1 -1 WT1 50_intron 34,.,. 0.441176,.,. WT1/intron/;WT1/non_coding/ 1.0000 0.1405 0.2530 0 Drash syndrome;Nephrotic syndrome, type 4;Aniridia 1;Frasier syndrome;Meacham syndrome;Wilms tumor 1;11p partial monosomy syndrome;Mesothelioma, malignant 0.000 dominant HG002 HG002 chr11:32440739:C:A 1,.,. -1 -1 -1 0.00140154 0 4 33,.,. 0.575758,.,. dominant HG002 HG002 chr11:32498595:T:C 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.444444,.,. dominant HG002 HG002 chr11:32498596:A:T 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.444444,.,. dominant HG002 HG002 chr11:32498597:G:A 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.444444,.,. dominant HG002 HG002 chr11:32655098:G:C 1,.,. -1 -1 -1 -1 -1 -1 CCDC73 50_intron 39,.,. 0.461538,.,. CCDC73/intron/;CCDC73/non_coding/ 0.0000 0.8757 1.1030 6 dominant HG002 HG002 chr11:32703713:C:T 1,.,. 2.12431e-05 0 3 -1 -1 -1 CCDC73 50_intron 41,.,. 0.658537,.,. CCDC73/intron/;CCDC73/non_coding/ 0.0000 0.8757 1.1030 6 dominant HG002 HG002 chr11:32734427:T:C 1,.,. -1 -1 -1 -1 -1 -1 CCDC73 50_intron 47,.,. 0.340426,.,. CCDC73/intron/;CCDC73/non_coding/ 0.0000 0.8757 1.1030 6 dominant HG002 HG002 chr11:33115587:GTGACAAATAAT:G 1,.,. -1 -1 -1 -1 -1 -1 CSTF3 50_intron 41,.,. 0.536585,.,. CSTF3/intron/ 1.0000 0.2445 0.3760 0 dominant HG002 HG002 chr11:33115599:T:G 1,.,. -1 -1 -1 -1 -1 -1 CSTF3 50_intron 40,.,. 0.55,.,. CSTF3/intron/ 1.0000 0.2445 0.3760 0 dominant HG002 HG002 chr11:33115600:A:C 1,.,. -1 -1 -1 -1 -1 -1 CSTF3 50_intron 40,.,. 0.55,.,. CSTF3/intron/ 1.0000 0.2445 0.3760 0 dominant HG002 HG002 chr11:33139169:T:C 1,.,. 2.63331e-05 0 4 -1 -1 -1 CSTF3 50_intron 32,.,. 0.46875,.,. CSTF3/intron/;CSTF3/non_coding/ 1.0000 0.2445 0.3760 0 dominant HG002 HG002 chr11:33173650:T:G 1,.,. 1.9707e-05 0 3 -1 -1 -1 43,.,. 0.697674,.,. dominant HG002 HG002 chr11:33317243:A:T 1,.,. -1 -1 -1 -1 -1 -1 HIPK3 50_intron 37,.,. 0.594595,.,. HIPK3/intron/ 0.9976 0.3544 0.4660 1 dominant HG002 HG002 chr11:33325992:G:A 1,.,. 2.62961e-05 0 4 -1 -1 -1 HIPK3 50_intron 42,.,. 0.547619,.,. HIPK3/intron/ 0.9976 0.3544 0.4660 1 dominant HG002 HG002 chr11:33664907:G:C 1,.,. 1.97057e-05 0 3 -1 -1 -1 KIAA1549L 50_intron 38,.,. 0.552632,.,. KIAA1549L/intron/ 0.0000 0.5913 0.7110 2 dominant HG002 HG002 chr11:33906296:G:GGGC 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.676471,.,. dominant HG002 HG002 chr11:33906297:C:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.705882,.,. recessive HG002 HG002 chr11:33986392:GGC:G 2,.,. 0.0139665 0 5 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr11:33986397:G:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr11:34218247:T:A 1,.,. 6.56978e-06 0 1 -1 -1 -1 ABTB2 50_intron 33,.,. 0.454545,.,. ABTB2/intron/;ABTB2/non_coding/ 0.0000 0.5865 0.7330 2 dominant HG002 HG002 chr11:34218332:T:C 1,.,. 1.9714e-05 0 3 -1 -1 -1 ABTB2 50_intron 33,.,. 0.545455,.,. ABTB2/intron/;ABTB2/non_coding/ 0.0000 0.5865 0.7330 2 dominant HG002 HG002 chr11:34234753:C:T 1,.,. 2.6274e-05 0 4 -1 -1 -1 ABTB2 50_intron 31,.,. 0.516129,.,. ABTB2/intron/;ABTB2/non_coding/ 0.0000 0.5865 0.7330 2 dominant HG002 HG002 chr11:34329513:T:C 1,.,. 1.97052e-05 0 3 -1 -1 -1 ABTB2 50_intron 51,.,. 0.45098,.,. ABTB2/intron/ 0.0000 0.5865 0.7330 2 dominant HG002 HG002 chr11:34338630:G:C 1,.,. 1.31667e-05 0 2 -1 -1 -1 ABTB2 50_intron 35,.,. 0.4,.,. ABTB2/intron/ 0.0000 0.5865 0.7330 2 dominant HG002 HG002 chr11:34357975:G:A 1,.,. 1.3151e-05 0 2 -1 -1 -1 ABTB2 35_5_prime_utr 42,.,. 0.5,.,. ABTB2/5_prime_utr/ENST00000435224 0.0000 0.5865 0.7330 2 dominant HG002 HG002 chr11:34557407:C:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. recessive HG002 HG002 chr11:34680997:C:T 2,.,. 0.000177331 0 27 -1 -1 -1 54,.,. 1,.,. dominant HG002 HG002 chr11:34733685:A:AAAGACTCTGTCTC 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.333333,.,. dominant HG002 HG002 chr11:34756089:A:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr11:34756090:TCTCTA:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.511111,.,. dominant HG002 HG002 chr11:35075747:GTA:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr11:35075753:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr11:35082176:A:AAAAAT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr11:35184857:TTTAGGGGGCTAACATC:T 1,.,. -1 -1 -1 -1 -1 -1 CD44 50_intron 52,.,. 0.423077,.,. CD44/intron/;CD44/non_coding/ 0.0016 0.4819 0.6540 2 Blood group, Indian system dominant HG002 HG002 chr11:35184878:G:A 1,.,. -1 -1 -1 -1 -1 -1 CD44 50_intron 50,.,. 0.44,.,. CD44/intron/;CD44/non_coding/ 0.0016 0.4819 0.6540 2 Blood group, Indian system dominant HG002 HG002 chr11:35248725:C:CAGGTGATTACTAGTGCTACATGGATCACCAGGGGATTACTAGTGGTGCATGGATCACCAGGTGATTACTAGTGCTACATGGATCACCAGGGGATTACTAGTGGTGCATGGATCACCAGGTGATTACTAGTGCTACATGGATCACCAGGGGATTACAAGCGGTGTATGGATCACT 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.442308,.,. dominant HG002 HG002 chr11:35755017:C:A 1,.,. 2.62892e-05 0 4 -1 -1 -1 TRIM44 50_intron 45,.,. 0.466667,.,. TRIM44/intron/;TRIM44/non_coding/ 0.8523 0.3527 0.5610 1 Aniridia 3 0.000 dominant HG002 HG002 chr11:35819225:A:G 1,.,. 2.62816e-05 0 4 -1 -1 -1 40,.,. 0.475,.,. recessive HG002 HG002 chr11:35853769:T:TCAAA 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chr11:36041877:TTG:T 1,.,. -1 -1 -1 -1 -1 -1 LDLRAD3 50_intron 34,.,. 0.588235,.,. LDLRAD3/intron/;LDLRAD3/non_coding/ 0.0000 0.7233 1.0330 5 dominant HG002 HG002 chr11:36143901:GCTCCCTCTCCCT:G 1,.,. -1 -1 -1 -1 -1 -1 LDLRAD3 50_intron 33,.,. 0.393939,.,. LDLRAD3/intron/;LDLRAD3/non_coding/ 0.0000 0.7233 1.0330 5 dominant HG002 HG002 chr11:36143915:T:C 1,.,. -1 -1 -1 -1 -1 -1 LDLRAD3 50_intron 31,.,. 0.419355,.,. LDLRAD3/intron/;LDLRAD3/non_coding/ 0.0000 0.7233 1.0330 5 dominant HG002 HG002 chr11:36204926:G:T 1,.,. 2.62902e-05 0 4 -1 -1 -1 LDLRAD3 50_intron 38,.,. 0.421053,.,. LDLRAD3/intron/;LDLRAD3/non_coding/ 0.0000 0.7233 1.0330 5 recessive HG002 HG002 chr11:36335404:CAG:C 2,.,. -1 -1 -1 -1 -1 -1 PRR5L 50_intron 42,.,. 1,.,. PRR5L/intron/;PRR5L/non_coding/ 0.0068 0.5119 0.7680 3 recessive HG002 HG002 chr11:36335407:T:G 2,.,. -1 -1 -1 -1 -1 -1 PRR5L 50_intron 42,.,. 1,.,. PRR5L/intron/;PRR5L/non_coding/ 0.0068 0.5119 0.7680 3 dominant HG002 HG002 chr11:36351769:A:T 1,.,. -1 -1 -1 -1 -1 -1 PRR5L 50_intron 50,.,. 0.42,.,. PRR5L/intron/;PRR5L/non_coding/ 0.0068 0.5119 0.7680 3 dominant HG002 HG002 chr11:36351777:T:A 1,.,. -1 -1 -1 -1 -1 -1 PRR5L 50_intron 49,.,. 0.510204,.,. PRR5L/intron/;PRR5L/non_coding/ 0.0068 0.5119 0.7680 3 recessive HG002 HG002 chr11:36431474:T:A 2,.,. 0.000693906 0 102 0.00105116 0 3 PRR5L 50_intron 32,.,. 1,.,. PRR5L/intron/;PRR5L/non_coding/ 0.0068 0.5119 0.7680 3 dominant HG002 HG002 chr11:36694775:T:TCAAA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr11:37132537:A:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.395349,.,. dominant HG002 HG002 chr11:37161170:TATCAGATAAAA:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr11:37161182:T:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr11:37275738:G:GTGT 1,.,. 2.5035e-05 0 1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr11:37275740:T:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr11:37365456:T:C 1,.,. 1.3147e-05 0 2 -1 -1 -1 51,.,. 0.490196,.,. dominant HG002 HG002 chr11:38090528:AAACAACAACAAC:A 1,.,. 1.69895e-05 0 2 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr11:38090543:C:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr11:38114701:C:CAGCTCAT 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.392157,.,. dominant HG002 HG002 chr11:38114702:C:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.4,.,. dominant HG002 HG002 chr11:38169669:TTAGGGTGTTTA:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr11:38169681:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr11:38385629:G:A 1,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.559322,.,. dominant HG002 HG002 chr11:38478126:AGTT:A 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.508772,.,. dominant HG002 HG002 chr11:38504478:CACACACACACACACACACACACACACACAA:C 1,.,. 7.49614e-06 0 1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr11:39210955:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. recessive HG002 HG002 chr11:39509060:C:A 2,.,. -1 -1 -1 0.00875964 2 25 50,.,. 1,.,. dominant HG002 HG002 chr11:39574925:ATATATG:A 1,.,. 0.000232883 0 3 -1 -1 -1 32,.,. 0.375,.,. dominant HG002 HG002 chr11:39583344:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.404762,.,. dominant HG002 HG002 chr11:39930540:T:C 1,.,. 2.62968e-05 0 4 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr11:41523661:CATTG:C 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.442308,.,. dominant HG002 HG002 chr11:41523674:A:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.45098,.,. dominant HG002 HG002 chr11:41532826:GTGTGTGT:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr11:41968533:T:G 1,.,. 7.46826e-05 0 1 -1 -1 -1 62,.,. 0.467742,.,. dominant HG002 HG002 chr11:42151461:A:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.354167,.,. dominant HG002 HG002 chr11:42211315:T:A 1,.,. 1.84611e-05 0 2 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr11:42829517:A:AAAG 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. dominant HG002 HG002 chr11:43341223:G:A 1,.,. -1 -1 -1 -1 -1 -1 API5 50_intron 49,.,. 0.510204,.,. API5/intron/ 1.0000 0.1002 0.2110 0 dominant HG002 HG002 chr11:43810383:A:T 1,.,. -1 -1 -1 -1 -1 -1 HSD17B12 50_intron 43,.,. 0.44186,.,. HSD17B12/intron/;HSD17B12/non_coding/ 0.0027 0.7520 1.3110 7 recessive HG002 HG002 chr11:44291418:C:T 2,.,. -1 -1 -1 -1 -1 -1 ALX4 50_intron 21,.,. 1,.,. ALX4/intron/ 0.0000 0.6318 0.9020 4 Parietal foramina 2;Frontonasal dysplasia with alopecia and genital anomaly;Craniosynostosis 5, susceptibility to 0.000 dominant HG002 HG002 chr11:44586925:C:T 1,.,. 1.97106e-05 0 3 -1 -1 -1 CD82 50_intron 22,.,. 0.545455,.,. CD82/intron/;CD82/non_coding/ 0.0000 0.8955 1.2210 6 recessive HG002 HG002 chr11:44634924:C:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr11:44634933:T:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr11:44634935:C:T 2,.,. 0.00847458 0 1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr11:44634936:T:C 2,.,. 6.57774e-06 0 1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr11:44655899:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr11:44655900:C:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chr11:44807408:GTCCCAGCTAC:G 1,.,. -1 -1 -1 -1 -1 -1 TSPAN18 50_intron 30,.,. 0.5,.,. TSPAN18/intron/ 0.0200 0.4997 0.7810 3 dominant HG002 HG002 chr11:44807419:T:C 1,.,. -1 -1 -1 -1 -1 -1 TSPAN18 50_intron 31,.,. 0.483871,.,. TSPAN18/intron/ 0.0200 0.4997 0.7810 3 dominant HG002 HG002 chr11:44865893:G:A 1,.,. -1 -1 -1 -1 -1 -1 TSPAN18 50_intron 28,.,. 0.535714,.,. TSPAN18/intron/ 0.0200 0.4997 0.7810 3 recessive HG002 HG002 chr11:44960266:G:GCTC 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr11:44960267:T:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr11:45101576:G:A 1,.,. -1 -1 -1 -1 -1 -1 PRDM11 50_intron 23,.,. 0.521739,.,. PRDM11/intron/ 1.0000 0.1998 0.2900 0 dominant HG002 HG002 chr11:45147166:C:T 1,.,. 6.59074e-06 0 1 -1 -1 -1 PRDM11 50_intron 26,.,. 0.346154,.,. PRDM11/intron/ 1.0000 0.1998 0.2900 0 dominant HG002 HG002 chr11:45207448:CTGGAGA:C 1,.,. -1 -1 -1 -1 -1 -1 PRDM11 50_intron 38,.,. 0.552632,.,. PRDM11/intron/;PRDM11/non_coding/ 1.0000 0.1998 0.2900 0 dominant HG002 HG002 chr11:45207455:C:A 1,.,. -1 -1 -1 -1 -1 -1 PRDM11 50_intron 38,.,. 0.552632,.,. PRDM11/intron/;PRDM11/non_coding/ 1.0000 0.1998 0.2900 0 dominant HG002 HG002 chr11:45676110:CCT:C 1,.,. -1 -1 -1 0.000700771 0 2 23,.,. 0.434783,.,. dominant HG002 HG002 chr11:45781167:G:A 1,.,. 6.57903e-06 0 1 -1 -1 -1 49,.,. 0.571429,.,. dominant HG002 HG002 chr11:45918107:A:C 1,.,. 6.56953e-06 0 1 -1 -1 -1 PEX16 50_intron 29,.,. 0.37931,.,. PEX16/intron/ 0.0000 0.7272 0.9570 4 Peroxisome biogenesis disorder 8A (Zellweger);Peroxisome biogenesis disorder 8B 0.000 recessive HG002 HG002 chr11:45940659:A:T 2,.,. 3.2903e-05 0 5 -1 -1 -1 PHF21A 50_intron 42,.,. 1,.,. PHF21A/intron/;PHF21A/non_coding/ 1.0000 0.0576 0.1490 0 Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0.000 recessive HG002 HG002 chr11:45962687:T:A 2,.,. 0.000310366 0 1 -1 -1 -1 PHF21A 50_intron 48,.,. 1,.,. PHF21A/intron/;PHF21A/non_coding/ 1.0000 0.0576 0.1490 0 Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0.000 recessive HG002 HG002 chr11:45962688:C:T 2,.,. 8.28253e-06 0 1 -1 -1 -1 PHF21A 50_intron 48,.,. 1,.,. PHF21A/intron/;PHF21A/non_coding/ 1.0000 0.0576 0.1490 0 Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0.000 recessive HG002 HG002 chr11:45962689:T:C 2,.,. -1 -1 -1 -1 -1 -1 PHF21A 50_intron 48,.,. 1,.,. PHF21A/intron/;PHF21A/non_coding/ 1.0000 0.0576 0.1490 0 Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0.000 recessive HG002 HG002 chr11:46273207:C:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr11:46273209:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr11:46885544:C:T 1,.,. 2.63026e-05 0 4 -1 -1 -1 LRP4 50_intron 23,.,. 0.478261,.,. LRP4/intron/;LRP4/non_coding/ 0.0106 0.4211 0.5010 1 Congenital myasthenic syndrome 17;Cenani-Lenz syndactyly syndrome;Sclerosteosis 2 0.000 dominant HG002 HG002 chr11:47089298:T:C 1,.,. 6.56935e-06 0 1 -1 -1 -1 C11orf49 50_intron 38,.,. 0.473684,.,. C11orf49/non_coding/;C11orf49/intron/ 0.0000 0.7458 0.9970 5 dominant HG002 HG002 chr11:47412670:C:T 1,.,. -1 -1 -1 -1 -1 -1 SLC39A13 50_intron 25,.,. 0.52,.,. SLC39A13/intron/;SLC39A13/non_coding/ 0.0659 0.4463 0.6620 2 Ehlers-Danlos syndrome, spondylocheirodysplastic type 0.000 dominant HG002 HG002 chr11:47580858:G:C 1,.,. 6.5735e-06 0 1 -1 -1 -1 NDUFS3 14_missense 22,.,. 0.5,.,. NDUFS3/missense/ENST00000534716;NDUFS3/missense/ENST00000528192;NDUFS3/missense/ENST00000263774;NDUFS3/missense/ENST00000530295;NDUFS3/3_prime_utr/ENST00000534208 0.0004 0.5833 0.8560 3 Mitochondrial complex 1 deficiency, nuclear type 8 0.000 dominant HG002 HG002 chr11:47703941:C:A 1,.,. -1 -1 -1 0.00105116 0 3 AGBL2 50_intron 30,.,. 0.4,.,. AGBL2/intron/;AGBL2/non_coding/ 0.0000 0.7694 0.9440 4 dominant HG002 HG002 chr11:47737508:C:T 1,.,. -1 -1 -1 -1 -1 -1 FNBP4 50_intron 42,.,. 0.428571,.,. FNBP4/intron/;FNBP4/non_coding/ 1.0000 0.2501 0.3520 0 dominant HG002 HG002 chr11:47797149:A:AAATTCACTG 1,.,. -1 -1 -1 -1 -1 -1 NUP160 50_intron 24,.,. 0.583333,.,. NUP160/intron/ 0.0003 0.4669 0.5950 2 Nephrotic syndrome, type 19 0.000 dominant HG002 HG002 chr11:47797152:G:A 1,.,. -1 -1 -1 -1 -1 -1 NUP160 50_intron 25,.,. 0.6,.,. NUP160/intron/ 0.0003 0.4669 0.5950 2 Nephrotic syndrome, type 19 0.000 dominant HG002 HG002 chr11:47846541:C:T 1,.,. 1.97197e-05 0 3 -1 -1 -1 NUP160 50_intron 42,.,. 0.595238,.,. NUP160/intron/;NUP160/non_coding/ 0.0003 0.4669 0.5950 2 Nephrotic syndrome, type 19 0.000 dominant HG002 HG002 chr11:47866642:A:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr11:48481274:C:A 1,.,. 1.97407e-05 0 3 -1 -1 -1 37,.,. 0.540541,.,. recessive HG002 HG002 chr11:48590417:G:A 2,.,. -1 -1 -1 -1 -1 -1 OR4A41P 53_non_coding 36,.,. 1,.,. OR4A41P/non_coding/ recessive HG002 HG002 chr11:48590418:T:A 2,.,. -1 -1 -1 -1 -1 -1 OR4A41P 53_non_coding 36,.,. 1,.,. OR4A41P/non_coding/ recessive HG002 HG002 chr11:48714418:A:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr11:48714508:A:C 2,.,. -1 -1 -1 0.00315347 0 9 7,.,. 1,.,. recessive HG002 HG002 chr11:48714509:A:G 2,.,. -1 -1 -1 0.00350385 0 10 7,.,. 1,.,. recessive HG002 HG002 chr11:48714533:G:A 2,.,. -1 -1 -1 0.00175193 2 5 7,.,. 1,.,. recessive HG002 HG002 chr11:48714555:T:A 2,.,. -1 -1 -1 0.00210231 2 6 7,.,. 1,.,. recessive HG002 HG002 chr11:48714643:C:T 2,.,. -1 -1 -1 0.00210231 3 6 8,.,. 1,.,. recessive HG002 HG002 chr11:48714678:G:C 2,.,. -1 -1 -1 0.0049054 2 14 8,.,. 1,.,. recessive HG002 HG002 chr11:48714683:T:C 2,.,. -1 -1 -1 0.00280308 2 8 8,.,. 1,.,. recessive HG002 HG002 chr11:48714688:C:A 2,.,. -1 -1 -1 0.00140154 2 4 8,.,. 1,.,. recessive HG002 HG002 chr11:48714701:A:C 2,.,. -1 -1 -1 0.00210231 3 6 8,.,. 1,.,. recessive HG002 HG002 chr11:48714710:A:T 2,.,. -1 -1 -1 0.0024527 0 7 8,.,. 1,.,. recessive HG002 HG002 chr11:48714716:T:A 2,.,. -1 -1 -1 0.00210231 3 6 8,.,. 1,.,. recessive HG002 HG002 chr11:48714720:G:A 2,.,. 1.89584e-05 1 2 0.00210231 3 6 8,.,. 1,.,. recessive HG002 HG002 chr11:48714737:T:C 2,.,. -1 -1 -1 0.00280308 4 8 8,.,. 1,.,. recessive HG002 HG002 chr11:48714742:T:C 2,.,. -1 -1 -1 0.0024527 3 7 8,.,. 1,.,. recessive HG002 HG002 chr11:48714752:G:A 2,.,. -1 -1 -1 0.00280308 4 8 8,.,. 1,.,. recessive HG002 HG002 chr11:48714764:A:C 2,.,. -1 -1 -1 0.00280308 3 8 8,.,. 1,.,. recessive HG002 HG002 chr11:48714768:C:T 2,.,. -1 -1 -1 0.0024527 3 7 8,.,. 1,.,. recessive HG002 HG002 chr11:48714777:T:A 2,.,. -1 -1 -1 0.00210231 3 6 8,.,. 1,.,. recessive HG002 HG002 chr11:48714781:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:48714812:T:A 2,.,. -1 -1 -1 0.00105116 1 3 8,.,. 1,.,. recessive HG002 HG002 chr11:48714846:T:A 2,.,. -1 -1 -1 0.0024527 1 7 8,.,. 1,.,. recessive HG002 HG002 chr11:48714848:A:G 2,.,. -1 -1 -1 0.00280308 0 8 8,.,. 1,.,. recessive HG002 HG002 chr11:48714854:A:T 2,.,. -1 -1 -1 0.00280308 1 8 8,.,. 1,.,. recessive HG002 HG002 chr11:48714869:A:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:48714870:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:48714878:A:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:48714880:A:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:48714900:G:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:48714940:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:48714961:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:48714975:A:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:48714999:C:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:48715053:G:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:48715074:G:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:48715101:G:GT 2,.,. -1 -1 -1 0.00140154 2 4 8,.,. 1,.,. recessive HG002 HG002 chr11:48715183:G:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:48715225:T:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:48715316:G:C 2,.,. -1 -1 -1 0.00105116 1 3 10,.,. 1,.,. recessive HG002 HG002 chr11:48715323:G:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr11:48715329:A:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr11:48766249:T:C 2,.,. -1 -1 -1 0.00455501 1 13 36,.,. 1,.,. recessive HG002 HG002 chr11:48766251:G:GTTGGA 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr11:48854729:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr11:48854730:A:ACCATGCTGTTT 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr11:48877549:C:G 1,.,. 6.78923e-06 0 1 -1 -1 -1 44,.,. 0.590909,.,. recessive HG002 HG002 chr11:49490247:A:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr11:49573292:A:ACGAT 2,.,. 2.88168e-05 0 1 -1 -1 -1 AC136759.1 53_non_coding 39,.,. 1,.,. AC136759.1/non_coding/ dominant HG002 HG002 chr11:49862942:C:T 1,.,. 1.31498e-05 0 2 -1 -1 -1 33,.,. 0.636364,.,. dominant HG002 HG002 chr11:49867383:C:T 1,.,. 1.972e-05 0 3 -1 -1 -1 33,.,. 0.515152,.,. recessive HG002 HG002 chr11:49886980:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr11:49886982:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr11:50161921:C:G 1,.,. 6.57307e-06 0 1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr11:50185243:C:G 1,.,. -1 -1 -1 -1 -1 -1 AC109635.4 53_non_coding 35,.,. 0.314286,.,. AC109635.4/non_coding/ dominant HG002 HG002 chr11:50191973:A:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.357143,.,. dominant HG002 HG002 chr11:50436454:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr11:50577635:G:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr11:50706403:C:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr11:50710292:A:C 1,.,. 1.3147e-05 0 2 -1 -1 -1 37,.,. 0.594595,.,. dominant HG002 HG002 chr11:50778857:A:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.541667,.,. recessive HG002 HG002 chr11:52821850:A:T 2,.,. -1 -1 -1 0.00315347 2 9 20,.,. 1,.,. recessive HG002 HG002 chr11:52821856:C:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr11:52821872:C:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr11:52822083:T:A 2,.,. -1 -1 -1 0.00946041 2 27 21,.,. 1,.,. recessive HG002 HG002 chr11:52822289:G:T 2,.,. -1 -1 -1 0.0049054 2 14 21,.,. 1,.,. recessive HG002 HG002 chr11:52928892:T:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr11:52928893:G:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr11:52928894:A:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr11:53191046:TTGG:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr11:53711184:G:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr11:53713456:C:T 2,.,. -1 -1 -1 0.0126139 0 36 13,.,. 1,.,. recessive HG002 HG002 chr11:53714897:C:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr11:53715251:G:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr11:53715354:T:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr11:53716077:A:C 2,.,. -1 -1 -1 0.00385424 0 11 17,.,. 1,.,. recessive HG002 HG002 chr11:53716107:A:G 2,.,. -1 -1 -1 0.00105116 0 3 17,.,. 1,.,. recessive HG002 HG002 chr11:53717675:T:C 2,.,. -1 -1 -1 0.000700771 0 2 17,.,. 1,.,. recessive HG002 HG002 chr11:53722803:C:T 2,.,. -1 -1 -1 0.00840925 3 24 8,.,. 1,.,. recessive HG002 HG002 chr11:53796441:C:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr11:54114279:CCTT:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr11:54114285:T:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr11:54343936:C:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr11:54391469:C:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr11:54411472:A:C 2,.,. -1 -1 -1 0.00280308 4 8 26,.,. 1,.,. recessive HG002 HG002 chr11:54411500:T:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr11:54614860:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. recessive HG002 HG002 chr11:54767024:C:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr11:54768732:G:A 2,.,. 9.28126e-06 0 1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr11:54769543:A:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr11:54770380:T:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr11:54774611:A:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr11:54814811:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr11:55003995:T:C 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.411765,.,. dominant HG002 HG002 chr11:55008577:C:T 1,.,. 6.75092e-06 0 1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr11:55027682:G:T 1,.,. 6.64125e-06 0 1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr11:55182468:G:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.586207,.,. dominant HG002 HG002 chr11:55453246:A:G 1,.,. 6.65097e-06 0 1 -1 -1 -1 33,.,. 0.606061,.,. dominant HG002 HG002 chr11:55508937:A:G 1,.,. 2.62874e-05 0 4 -1 -1 -1 OR4C1P 53_non_coding 47,.,. 0.510638,.,. OR4C1P/non_coding/ dominant HG002 HG002 chr11:55560728:A:T 1,.,. 1.97454e-05 0 3 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr11:56433026:C:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.342105,.,. dominant HG002 HG002 chr11:56992872:A:T 1,.,. 2.62753e-05 0 4 -1 -1 -1 48,.,. 0.604167,.,. dominant HG002 HG002 chr11:57154433:T:C 1,.,. 2.63096e-05 0 4 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr11:58048675:A:AATAT 1,.,. -1 -1 -1 -1 -1 -1 OR9Q1 50_intron 40,.,. 0.3,.,. OR9Q1/intron/ 0.1688 0.5157 1.3180 7 dominant HG002 HG002 chr11:58169836:A:C 1,.,. -1 -1 -1 -1 -1 -1 OR9Q1 50_intron 35,.,. 0.485714,.,. OR9Q1/intron/ 0.1688 0.5157 1.3180 7 dominant HG002 HG002 chr11:58582434:C:T 1,.,. 1.31399e-05 0 2 -1 -1 -1 ZFP91;ZFP91-CNTF 50_intron 33,.,. 0.484848,.,. ZFP91/intron/;ZFP91-CNTF/intron/ 1.0000 0.1199 0.2370 0 dominant HG002 HG002 chr11:58697521:A:G 1,.,. -1 -1 -1 -1 -1 -1 GLYAT 50_intron 47,.,. 0.468085,.,. GLYAT/intron/ 0.0007 1.3848 1.9150 9 dominant HG002 HG002 chr11:58800845:A:C 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.45283,.,. dominant HG002 HG002 chr11:58818806:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr11:58861378:G:A 1,.,. -1 -1 -1 -1 -1 -1 GLYATL2 53_non_coding 42,.,. 0.238095,.,. GLYATL2/non_coding/ 0.0000 1.1338 1.6500 8 recessive HG002 HG002 chr11:58863129:T:TTTCA 2,.,. -1 -1 -1 -1 -1 -1 GLYATL2 53_non_coding 42,.,. 1,.,. GLYATL2/non_coding/ 0.0000 1.1338 1.6500 8 recessive HG002 HG002 chr11:58863130:A:T 2,.,. 6.58605e-06 0 1 -1 -1 -1 GLYATL2 53_non_coding 42,.,. 1,.,. GLYATL2/non_coding/ 0.0000 1.1338 1.6500 8 dominant HG002 HG002 chr11:58961091:AG:A 1,.,. 2.62784e-05 0 4 -1 -1 -1 GLYATL1 53_non_coding 37,.,. 0.405405,.,. GLYATL1/non_coding/ 0.0002 0.6936 1.0680 5 recessive HG002 HG002 chr11:59585389:C:CCT 2,.,. -1 -1 -1 -1 -1 -1 OSBP 50_intron 32,.,. 1,.,. OSBP/intron/ 1.0000 0.2801 0.3940 0 recessive HG002 HG002 chr11:59585390:T:C 2,.,. -1 -1 -1 -1 -1 -1 OSBP 50_intron 31,.,. 1,.,. OSBP/intron/ 1.0000 0.2801 0.3940 0 dominant HG002 HG002 chr11:60049357:C:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.615385,.,. dominant HG002 HG002 chr11:60049358:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.6,.,. dominant HG002 HG002 chr11:60049360:C:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.589744,.,. dominant HG002 HG002 chr11:60157496:C:A 1,.,. 1.97332e-05 0 3 -1 -1 -1 46,.,. 0.608696,.,. dominant HG002 HG002 chr11:60530427:T:A 1,.,. 1.97158e-05 0 3 -1 -1 -1 MS4A13 50_intron 54,.,. 0.425926,.,. MS4A13/intron/ 0.0237 0.7555 1.5460 8 dominant HG002 HG002 chr11:60693207:AAGAAGGAAAGAAAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.382979,.,. dominant HG002 HG002 chr11:61063159:C:T 1,.,. 2.63109e-05 0 4 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr11:61101100:C:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr11:61127333:CGGCT:C 1,.,. -1 -1 -1 -1 -1 -1 CD5 36_3_prime_utr 38,.,. 0.368421,.,. CD5/3_prime_utr/ENST00000347785 0.0000 0.6296 0.8350 3 dominant HG002 HG002 chr11:61127339:C:T 1,.,. -1 -1 -1 -1 -1 -1 CD5 36_3_prime_utr 38,.,. 0.368421,.,. CD5/3_prime_utr/ENST00000347785 0.0000 0.6296 0.8350 3 dominant HG002 HG002 chr11:61145596:C:T 1,.,. 1.97083e-05 0 3 -1 -1 -1 VPS37C 50_intron 30,.,. 0.466667,.,. VPS37C/intron/;VPS37C/non_coding/ 0.0255 0.5518 0.9630 4 dominant HG002 HG002 chr11:61445181:T:C 1,.,. 1.97094e-05 0 3 -1 -1 -1 AP003108.2;SDHAF2 50_intron 47,.,. 0.553191,.,. AP003108.2/non_coding/;SDHAF2/intron/;AP003108.2/intron/ 0.0000 1.1212 1.6080 8 Paragangliomas 2 0.000 dominant HG002 HG002 chr11:61456872:C:T 1,.,. 1.97132e-05 0 3 -1 -1 -1 AP003108.2 50_intron 43,.,. 0.581395,.,. AP003108.2/non_coding/;AP003108.2/intron/ recessive HG002 HG002 chr11:61507192:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chr11:61592844:G:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.5,.,. dominant HG002 HG002 chr11:61592845:A:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.5,.,. dominant HG002 HG002 chr11:61605764:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr11:61653923:C:G 1,.,. 6.57212e-06 0 1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr11:61998236:T:TTTTG 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr11:62066494:G:A 1,.,. 1.97296e-05 0 3 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr11:62446181:GC:G 1,.,. 1.97265e-05 0 3 -1 -1 -1 AHNAK 50_intron 30,.,. 0.5,.,. AHNAK/intron/;AHNAK/non_coding/ 0.0002 0.5598 0.7930 3 dominant HG002 HG002 chr11:62696276:T:TTGTGTGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 HNRNPUL2-BSCL2;BSCL2 50_intron 22,.,. 0.454545,.,. HNRNPUL2-BSCL2/intron/;BSCL2/intron/;BSCL2/non_coding/ 0.0000 0.6716 0.8690 4 Severe neurodegenerative syndrome with lipodystrophy;Hereditary spastic paraplegia 17;Neuronopathy, distal hereditary motor, type 5C;Congenital generalized lipodystrophy type 2 0.000 dominant HG002 HG002 chr11:62993257:G:T 1,.,. 1.97163e-05 0 3 -1 -1 -1 SLC22A8 14_missense 31,.,. 0.483871,.,. SLC22A8/missense/ENST00000336232;SLC22A8/missense/ENST00000545207;SLC22A8/missense/ENST00000535878;SLC22A8/missense/ENST00000430500;SLC22A8/3_prime_utr/ENST00000311438 0.0000 0.7470 1.0030 5 dominant HG002 HG002 chr11:63143589:G:T 1,.,. 1.97117e-05 0 3 -1 -1 -1 SLC22A24 14_missense 38,.,. 0.315789,.,. SLC22A24/missense/ENST00000417740;SLC22A24/missense/ENST00000612278;SLC22A24/missense/ENST00000326192 0.0000 1.1395 1.4830 8 recessive HG002 HG002 chr11:63150399:GTC:G 2,.,. -1 -1 -1 -1 -1 -1 SLC22A10 53_non_coding 40,.,. 1,.,. SLC22A10/non_coding/ 0.0000 1.0479 1.3360 7 recessive HG002 HG002 chr11:63150402:T:C 2,.,. -1 -1 -1 -1 -1 -1 SLC22A10 53_non_coding 40,.,. 1,.,. SLC22A10/non_coding/ 0.0000 1.0479 1.3360 7 dominant HG002 HG002 chr11:63379803:C:T 1,.,. 1.97145e-05 0 3 -1 -1 -1 SLC22A9 50_intron 33,.,. 0.393939,.,. SLC22A9/intron/ 0.0000 1.1645 1.4610 8 dominant HG002 HG002 chr11:63872561:CAGAGGCCATAA:C 1,.,. -1 -1 -1 -1 -1 -1 MARK2 50_intron 28,.,. 0.464286,.,. MARK2/intron/ 1.0000 0.1861 0.2870 0 dominant HG002 HG002 chr11:63872573:A:T 1,.,. -1 -1 -1 -1 -1 -1 MARK2 50_intron 28,.,. 0.464286,.,. MARK2/intron/ 1.0000 0.1861 0.2870 0 dominant HG002 HG002 chr11:63957224:C:T 1,.,. -1 -1 -1 -1 -1 -1 NAA40 36_3_prime_utr 27,.,. 0.333333,.,. NAA40/3_prime_utr/ENST00000377793 0.0000 0.6881 0.9550 4 dominant HG002 HG002 chr11:64172143:G:T 1,.,. -1 -1 -1 0.00140154 0 4 26,.,. 0.615385,.,. dominant HG002 HG002 chr11:64578228:G:A 1,.,. 1.97055e-05 0 3 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr11:65820217:G:C 1,.,. 1.31621e-05 0 2 -1 -1 -1 32,.,. 0.3125,.,. recessive HG002 HG002 chr11:66889901:G:C 2,.,. -1 -1 -1 -1 -1 -1 PC 50_intron 33,.,. 1,.,. PC/intron/;PC/non_coding/ 0.0651 0.4215 0.5390 1 Pyruvate carboxylase deficiency 0.000 recessive HG002 HG002 chr11:66889902:A:ATTTATGATT 2,.,. -1 -1 -1 -1 -1 -1 PC 50_intron 34,.,. 1,.,. PC/intron/;PC/non_coding/ 0.0651 0.4215 0.5390 1 Pyruvate carboxylase deficiency 0.000 recessive HG002 HG002 chr11:67494793:T:TGAGTGGGCGA 2,.,. -1 -1 -1 0.0119131 3 34 PITPNM1 50_intron 14,.,. 1,.,. PITPNM1/intron/;PITPNM1/non_coding/ 0.0000 0.6077 0.7370 2 dominant HG002 HG002 chr11:67712513:C:T 1,.,. -1 -1 -1 -1 -1 -1 UNC93B5 53_non_coding 27,.,. 0.444444,.,. UNC93B5/non_coding/ dominant HG002 HG002 chr11:67745569:G:GACGCACACAC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr11:67980330:G:A 1,.,. 1.31434e-05 0 2 -1 -1 -1 39,.,. 0.461538,.,. recessive HG002 HG002 chr11:68444551:A:AGGT 2,.,. -1 -1 -1 -1 -1 -1 LRP5 50_intron 24,.,. 1,.,. LRP5/intron/ 0.9406 0.3885 0.4820 1 Autosomal dominant osteopetrosis 1;Exudative vitreoretinopathy 4;Osteoporosis with pseudoglioma;Worth disease;Bone mineral density quantitative trait locus 1;Exudative vitreoretinopathy 1;Polycystic liver disease 4 with or without kidney cysts 0.000 recessive HG002 HG002 chr11:68444553:T:G 2,.,. -1 -1 -1 -1 -1 -1 LRP5 50_intron 24,.,. 1,.,. LRP5/intron/ 0.9406 0.3885 0.4820 1 Autosomal dominant osteopetrosis 1;Exudative vitreoretinopathy 4;Osteoporosis with pseudoglioma;Worth disease;Bone mineral density quantitative trait locus 1;Exudative vitreoretinopathy 1;Polycystic liver disease 4 with or without kidney cysts 0.000 dominant HG002 HG002 chr11:68489544:C:CTGTG 1,.,. -1 -1 -1 -1 -1 -1 PPP6R3 50_intron 34,.,. 0.470588,.,. PPP6R3/intron/;PPP6R3/non_coding/ 0.9919 0.3488 0.4810 1 dominant HG002 HG002 chr11:68857859:C:A 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.434783,.,. dominant HG002 HG002 chr11:69075123:G:GC 1,.,. 1.97166e-05 0 3 -1 -1 -1 TPCN2 50_intron 18,.,. 0.5,.,. TPCN2/intron/;TPCN2/non_coding/ 0.0000 0.8209 0.9770 4 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10 dominant HG002 HG002 chr11:69995104:T:G 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.321429,.,. recessive HG002 HG002 chr11:70636755:T:C 2,.,. 1.88637e-05 0 1 -1 -1 -1 SHANK2 50_intron 27,.,. 1,.,. SHANK2/intron/;SHANK2/non_coding/ 1.0000 0.3156 0.4170 1 Autism, susceptibility to, 17;Autism spectrum disorder recessive HG002 HG002 chr11:70637065:ATGTGTGTGCACG:A 2,.,. 5.79822e-05 0 3 -1 -1 -1 SHANK2 50_intron 25,.,. 1,.,. SHANK2/intron/;SHANK2/non_coding/ 1.0000 0.3156 0.4170 1 Autism, susceptibility to, 17;Autism spectrum disorder recessive HG002 HG002 chr11:70637085:G:A 2,.,. -1 -1 -1 -1 -1 -1 SHANK2 50_intron 25,.,. 1,.,. SHANK2/intron/;SHANK2/non_coding/ 1.0000 0.3156 0.4170 1 Autism, susceptibility to, 17;Autism spectrum disorder dominant HG002 HG002 chr11:70658208:A:C 1,.,. -1 -1 -1 -1 -1 -1 SHANK2 50_intron 23,.,. 0.304348,.,. SHANK2/intron/;SHANK2/non_coding/ 1.0000 0.3156 0.4170 1 Autism, susceptibility to, 17;Autism spectrum disorder dominant HG002 HG002 chr11:70658209:ACACAC:A 1,.,. -1 -1 -1 -1 -1 -1 SHANK2 50_intron 22,.,. 0.363636,.,. SHANK2/intron/;SHANK2/non_coding/ 1.0000 0.3156 0.4170 1 Autism, susceptibility to, 17;Autism spectrum disorder recessive HG002 HG002 chr11:71085900:T:A 2,.,. -1 -1 -1 -1 -1 -1 SHANK2 50_intron 22,.,. 1,.,. SHANK2/intron/;SHANK2/non_coding/ 1.0000 0.3156 0.4170 1 Autism, susceptibility to, 17;Autism spectrum disorder recessive HG002 HG002 chr11:71085903:T:A 2,.,. -1 -1 -1 -1 -1 -1 SHANK2 50_intron 22,.,. 1,.,. SHANK2/intron/;SHANK2/non_coding/ 1.0000 0.3156 0.4170 1 Autism, susceptibility to, 17;Autism spectrum disorder dominant HG002 HG002 chr11:71321003:G:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.358974,.,. dominant HG002 HG002 chr11:71399341:A:ACT 1,.,. -1 -1 -1 -1 -1 -1 ACTE1P 53_non_coding 29,.,. 0.62069,.,. ACTE1P/non_coding/ dominant HG002 HG002 chr11:71399342:A:G 1,.,. -1 -1 -1 -1 -1 -1 ACTE1P 53_non_coding 29,.,. 0.62069,.,. ACTE1P/non_coding/ dominant HG002 HG002 chr11:71399343:G:T 1,.,. -1 -1 -1 -1 -1 -1 ACTE1P 53_non_coding 29,.,. 0.62069,.,. ACTE1P/non_coding/ recessive HG002 HG002 chr11:71650575:C:CCCCA 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr11:71650577:A:C 2,.,. 0.00165707 0 194 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr11:71934938:ATTC:A 2,.,. 2.75672e-05 1 4 -1 -1 -1 RNF121 50_intron 28,.,. 1,.,. RNF121/intron/;RNF121/non_coding/ 0.2891 0.4117 0.6440 2 dominant HG002 HG002 chr11:72189451:C:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr11:72502146:A:ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr11:73136165:G:GA 1,.,. -1 -1 -1 0.000700771 0 2 FCHSD2 50_intron 30,.,. 0.433333,.,. FCHSD2/intron/ 0.9967 0.3066 0.4660 1 dominant HG002 HG002 chr11:74140114:C:G 1,.,. 1.33835e-05 0 2 0.000700771 0 2 C2CD3 50_intron 42,.,. 0.547619,.,. C2CD3/intron/;C2CD3/non_coding/ 0.0000 0.5402 0.6370 2 Orofaciodigital syndrome type 14 0.000 dominant HG002 HG002 chr11:74441065:C:CAGTGAAG 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr11:74441067:T:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr11:74728524:G:GCTT 1,.,. -1 -1 -1 -1 -1 -1 CHRDL2 50_intron 33,.,. 0.484848,.,. CHRDL2/intron/;CHRDL2/non_coding/ 0.0000 0.7583 0.9940 5 dominant HG002 HG002 chr11:74865933:A:AGTTT 1,.,. -1 -1 -1 -1 -1 -1 XRRA1 50_intron 42,.,. 0.452381,.,. XRRA1/intron/;XRRA1/non_coding/ 0.0000 0.8449 1.0400 5 dominant HG002 HG002 chr11:74865934:T:A 1,.,. -1 -1 -1 -1 -1 -1 XRRA1 50_intron 43,.,. 0.44186,.,. XRRA1/intron/;XRRA1/non_coding/ 0.0000 0.8449 1.0400 5 recessive HG002 HG002 chr11:75273696:CCCCATG:C 2,.,. -1 -1 -1 -1 -1 -1 ARRB1 50_intron 26,.,. 1,.,. ARRB1/intron/;ARRB1/non_coding/ 0.1483 0.4241 0.6110 2 recessive HG002 HG002 chr11:75273703:T:A 2,.,. -1 -1 -1 -1 -1 -1 ARRB1 50_intron 26,.,. 1,.,. ARRB1/intron/;ARRB1/non_coding/ 0.1483 0.4241 0.6110 2 dominant HG002 HG002 chr11:76216517:C:CTGAA 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.48,.,. dominant HG002 HG002 chr11:76216518:A:G 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr11:76253572:AGGCCG:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr11:76253580:A:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. recessive HG002 HG002 chr11:76918979:TGAACTTG:T 2,.,. -1 -1 -1 -1 -1 -1 ACER3 50_intron 40,.,. 1,.,. ACER3/intron/;ACER3/non_coding/ 0.3046 0.4127 0.8150 3 Alkaline ceramidase 3 deficiency 0.000 recessive HG002 HG002 chr11:76918987:C:A 2,.,. -1 -1 -1 -1 -1 -1 ACER3 50_intron 40,.,. 1,.,. ACER3/intron/;ACER3/non_coding/ 0.3046 0.4127 0.8150 3 Alkaline ceramidase 3 deficiency 0.000 recessive HG002 HG002 chr11:76918988:A:T 2,.,. -1 -1 -1 -1 -1 -1 ACER3 50_intron 40,.,. 1,.,. ACER3/intron/;ACER3/non_coding/ 0.3046 0.4127 0.8150 3 Alkaline ceramidase 3 deficiency 0.000 dominant HG002 HG002 chr11:77239701:T:C 1,.,. -1 -1 -1 -1 -1 -1 GDPD4 50_intron 38,.,. 0.473684,.,. GDPD4/intron/ 0.0000 0.7512 1.0490 5 recessive HG002 HG002 chr11:77838220:G:T 2,.,. -1 -1 -1 -1 -1 -1 AAMDC 50_intron 35,.,. 1,.,. AAMDC/intron/;AAMDC/non_coding/ 0.0000 1.0119 1.5710 8 dominant HG002 HG002 chr11:77920256:T:TATAC 1,.,. -1 -1 -1 0.000700771 0 2 INTS4 50_intron 44,.,. 0.613636,.,. INTS4/intron/;INTS4/non_coding/ 0.0000 0.5651 0.7310 2 dominant HG002 HG002 chr11:78173087:AC:A 1,.,. -1 -1 -1 -1 -1 -1 KCTD21 36_3_prime_utr 34,.,. 0.294118,.,. KCTD21/3_prime_utr/ENST00000340067 0.0077 0.6440 1.1240 6 dominant HG002 HG002 chr11:78407207:T:C 1,.,. -1 -1 -1 -1 -1 -1 GAB2 50_intron 35,.,. 0.4,.,. GAB2/intron/;GAB2/non_coding/ 0.6768 0.3844 0.5580 1 dominant HG002 HG002 chr11:78628260:T:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.594595,.,. dominant HG002 HG002 chr11:78679092:C:T 1,.,. -1 -1 -1 0.000700771 0 2 TENM4 50_intron 30,.,. 0.433333,.,. TENM4/intron/ 1.0000 0.3458 0.4160 1 Tremor, hereditary essential, 5 0.000 dominant HG002 HG002 chr11:79139128:A:ATAAAATATG 1,.,. -1 -1 -1 -1 -1 -1 TENM4 50_intron 42,.,. 0.404762,.,. TENM4/intron/;TENM4/non_coding/ 1.0000 0.3458 0.4160 1 Tremor, hereditary essential, 5 0.000 dominant HG002 HG002 chr11:79162529:AATTTTG:A 1,.,. -1 -1 -1 -1 -1 -1 TENM4 50_intron 34,.,. 0.558824,.,. TENM4/intron/;TENM4/non_coding/ 1.0000 0.3458 0.4160 1 Tremor, hereditary essential, 5 0.000 dominant HG002 HG002 chr11:79162540:T:A 1,.,. -1 -1 -1 -1 -1 -1 TENM4 50_intron 34,.,. 0.558824,.,. TENM4/intron/;TENM4/non_coding/ 1.0000 0.3458 0.4160 1 Tremor, hereditary essential, 5 0.000 dominant HG002 HG002 chr11:79511693:C:CACACACAT 1,.,. 8.99378e-06 0 1 0.000700771 0 2 40,.,. 0.425,.,. dominant HG002 HG002 chr11:79516882:A:G 1,.,. 3.08699e-05 0 3 -1 -1 -1 40,.,. 0.35,.,. dominant HG002 HG002 chr11:80577997:T:TGTCACCC 1,.,. 6.66027e-06 0 1 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr11:80578009:AGTGGGTGACAGGAATTGGTAACAGAGAGAT:A 1,.,. 6.78086e-06 0 1 -1 -1 -1 42,.,. 0.404762,.,. dominant HG002 HG002 chr11:81247709:C:CTCTA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr11:81391261:A:C 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.596154,.,. dominant HG002 HG002 chr11:81432719:TTTA:T 1,.,. 1.58788e-05 0 2 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr11:81432726:T:A 1,.,. 6.55609e-05 0 2 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr11:81441022:AAGTGCTC:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.530612,.,. dominant HG002 HG002 chr11:81441030:T:C 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.52,.,. dominant HG002 HG002 chr11:81757201:G:GAGATAA 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr11:81769724:TGG:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. dominant HG002 HG002 chr11:81769728:A:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. dominant HG002 HG002 chr11:81769729:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. dominant HG002 HG002 chr11:81769732:A:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. dominant HG002 HG002 chr11:81797706:T:TTCTC 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. recessive HG002 HG002 chr11:81813432:CTCCTTT:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr11:81813440:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr11:81813442:T:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr11:81813443:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr11:81813444:G:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr11:81863359:A:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.340426,.,. dominant HG002 HG002 chr11:82156518:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr11:82225079:G:A 1,.,. 2.63953e-05 0 4 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr11:82332058:G:C 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.58,.,. dominant HG002 HG002 chr11:82654955:GAT:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.6,.,. dominant HG002 HG002 chr11:82654958:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.615385,.,. dominant HG002 HG002 chr11:82657012:C:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr11:82657013:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr11:82657017:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr11:82987682:T:C 1,.,. -1 -1 -1 -1 -1 -1 RAB30 14_missense 50,.,. 0.58,.,. RAB30/missense/ENST00000525117;RAB30/missense/ENST00000532548;RAB30/missense/ENST00000524635;RAB30/missense/ENST00000612684;RAB30/missense/ENST00000533486;RAB30/missense/ENST00000527633;RAB30/missense/ENST00000260056;RAB30/missense/ENST00000533014;RAB30/missense/ENST00000531021;RAB30/missense/ENST00000534301;RAB30/missense/ENST00000534141;RAB30/missense/ENST00000526205;RAB30/missense/ENST00000534103 0.6439 0.3595 0.6490 2 dominant HG002 HG002 chr11:83616498:A:T 1,.,. 1.02638e-05 0 1 -1 -1 -1 DLG2 50_intron 48,.,. 0.416667,.,. DLG2/intron/ 0.9998 0.3288 0.4440 1 dominant HG002 HG002 chr11:83616499:T:G 1,.,. -1 -1 -1 -1 -1 -1 DLG2 50_intron 51,.,. 0.392157,.,. DLG2/intron/ 0.9998 0.3288 0.4440 1 recessive HG002 HG002 chr11:83753864:T:A 2,.,. 0.00320936 0 34 -1 -1 -1 DLG2 50_intron 43,.,. 1,.,. DLG2/intron/;DLG2/non_coding/ 0.9998 0.3288 0.4440 1 dominant HG002 HG002 chr11:83791317:T:A 1,.,. -1 -1 -1 -1 -1 -1 DLG2;AP002370.1 50_intron 29,.,. 0.37931,.,. DLG2/intron/;DLG2/non_coding/;AP002370.1/non_coding/ 0.9998 0.3288 0.4440 1 dominant HG002 HG002 chr11:84100219:A:G 1,.,. -1 -1 -1 -1 -1 -1 DLG2 50_intron 29,.,. 0.482759,.,. DLG2/intron/;DLG2/non_coding/ 0.9998 0.3288 0.4440 1 dominant HG002 HG002 chr11:84168852:A:C 1,.,. -1 -1 -1 -1 -1 -1 DLG2 50_intron 46,.,. 0.434783,.,. DLG2/intron/;DLG2/non_coding/ 0.9998 0.3288 0.4440 1 dominant HG002 HG002 chr11:84818108:C:G 1,.,. -1 -1 -1 -1 -1 -1 DLG2 50_intron 34,.,. 0.470588,.,. DLG2/intron/;DLG2/non_coding/ 0.9998 0.3288 0.4440 1 dominant HG002 HG002 chr11:85028265:G:A 1,.,. 1.31435e-05 0 2 -1 -1 -1 DLG2 50_intron 34,.,. 0.441176,.,. DLG2/intron/ 0.9998 0.3288 0.4440 1 dominant HG002 HG002 chr11:85108621:CAA:C 1,.,. -1 -1 -1 -1 -1 -1 DLG2 50_intron 39,.,. 0.512821,.,. DLG2/intron/ 0.9998 0.3288 0.4440 1 dominant HG002 HG002 chr11:85544260:A:T 1,.,. -1 -1 -1 -1 -1 -1 DLG2 50_intron 57,.,. 0.508772,.,. DLG2/intron/ 0.9998 0.3288 0.4440 1 dominant HG002 HG002 chr11:85559395:C:T 1,.,. 6.61428e-06 0 1 -1 -1 -1 DLG2 50_intron 40,.,. 0.3,.,. DLG2/intron/ 0.9998 0.3288 0.4440 1 dominant HG002 HG002 chr11:85715391:A:G 1,.,. 1.31467e-05 0 2 -1 -1 -1 SYTL2 50_intron 38,.,. 0.5,.,. SYTL2/intron/;SYTL2/non_coding/ 0.0000 0.8227 0.9450 4 dominant HG002 HG002 chr11:85907001:A:C 1,.,. -1 -1 -1 -1 -1 -1 CCDC83 50_intron 39,.,. 0.589744,.,. CCDC83/intron/;CCDC83/non_coding/ 0.0000 0.8916 1.2630 7 dominant HG002 HG002 chr11:85995395:T:A 1,.,. -1 -1 -1 -1 -1 -1 PICALM 50_intron 45,.,. 0.488889,.,. PICALM/intron/ 0.7456 0.3277 0.6470 2 0.000 dominant HG002 HG002 chr11:86026846:G:A 1,.,. -1 -1 -1 -1 -1 -1 PICALM 50_intron 43,.,. 0.418605,.,. PICALM/intron/;PICALM/non_coding/ 0.7456 0.3277 0.6470 2 0.000 dominant HG002 HG002 chr11:86144030:ATCTAC:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.625,.,. dominant HG002 HG002 chr11:86252512:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 EED 50_intron 34,.,. 0.411765,.,. EED/intron/;EED/non_coding/ 0.9991 0.2273 0.4100 1 Cohen-Gibson syndrome 0.000 dominant HG002 HG002 chr11:86252514:C:T 1,.,. -1 -1 -1 -1 -1 -1 EED 50_intron 31,.,. 0.419355,.,. EED/intron/;EED/non_coding/ 0.9991 0.2273 0.4100 1 Cohen-Gibson syndrome 0.000 dominant HG002 HG002 chr11:86363101:A:C 1,.,. 6.63174e-06 0 1 -1 -1 -1 51,.,. 0.490196,.,. dominant HG002 HG002 chr11:86584483:T:G 1,.,. 6.57471e-06 0 1 -1 -1 -1 ME3 50_intron 31,.,. 0.387097,.,. ME3/intron/;ME3/non_coding/ 0.0000 0.6575 0.8530 3 dominant HG002 HG002 chr11:86696473:C:T 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.471698,.,. dominant HG002 HG002 chr11:86834560:TTCC:T 1,.,. -1 -1 -1 -1 -1 -1 PRSS23 50_intron 30,.,. 0.433333,.,. PRSS23/intron/;PRSS23/non_coding/ 0.0000 0.6836 0.9550 4 dominant HG002 HG002 chr11:86955361:C:G 1,.,. 2.63324e-05 0 4 -1 -1 -1 FZD4 35_5_prime_utr 42,.,. 0.547619,.,. FZD4/5_prime_utr/ENST00000531380 0.3631 0.4041 0.6140 2 Exudative vitreoretinopathy 1 0.000 dominant HG002 HG002 chr11:87050933:C:T 1,.,. -1 -1 -1 0.000700771 0 2 TMEM135 50_intron 46,.,. 0.456522,.,. TMEM135/intron/;TMEM135/non_coding/ 0.0014 0.5202 0.7430 3 dominant HG002 HG002 chr11:87052882:T:G 1,.,. -1 -1 -1 -1 -1 -1 TMEM135 50_intron 43,.,. 0.604651,.,. TMEM135/intron/;TMEM135/non_coding/ 0.0014 0.5202 0.7430 3 dominant HG002 HG002 chr11:87061237:A:T 1,.,. 2.62854e-05 0 4 -1 -1 -1 TMEM135 50_intron 36,.,. 0.472222,.,. TMEM135/intron/;TMEM135/non_coding/ 0.0014 0.5202 0.7430 3 dominant HG002 HG002 chr11:87111660:A:AAAAAG 1,.,. 1.8112e-05 0 1 -1 -1 -1 TMEM135 50_intron 40,.,. 0.425,.,. TMEM135/intron/;TMEM135/non_coding/ 0.0014 0.5202 0.7430 3 dominant HG002 HG002 chr11:87146318:AGATCAGCCTGAGGGAAT:A 1,.,. -1 -1 -1 -1 -1 -1 TMEM135 50_intron 49,.,. 0.428571,.,. TMEM135/intron/;TMEM135/non_coding/ 0.0014 0.5202 0.7430 3 dominant HG002 HG002 chr11:87146337:T:G 1,.,. -1 -1 -1 -1 -1 -1 TMEM135 50_intron 49,.,. 0.428571,.,. TMEM135/intron/;TMEM135/non_coding/ 0.0014 0.5202 0.7430 3 dominant HG002 HG002 chr11:87159611:A:G 1,.,. -1 -1 -1 -1 -1 -1 TMEM135 50_intron 40,.,. 0.425,.,. TMEM135/intron/ 0.0014 0.5202 0.7430 3 dominant HG002 HG002 chr11:87179591:G:A 1,.,. 2.63251e-05 0 4 -1 -1 -1 TMEM135 50_intron 42,.,. 0.690476,.,. TMEM135/intron/ 0.0014 0.5202 0.7430 3 dominant HG002 HG002 chr11:87333124:CATTT:C 1,.,. 2.73329e-05 0 4 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr11:87336826:G:C 1,.,. 1.99923e-05 0 3 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr11:87344434:G:A 1,.,. -1 -1 -1 0.00140154 0 4 38,.,. 0.552632,.,. dominant HG002 HG002 chr11:87406949:A:G 1,.,. 2.6284e-05 0 4 -1 -1 -1 32,.,. 0.65625,.,. dominant HG002 HG002 chr11:87486299:A:AT 1,.,. 2.62874e-05 0 4 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr11:87527211:T:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr11:87535875:A:G 1,.,. 1.97145e-05 0 3 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr11:87599272:G:T 1,.,. 1.97213e-05 0 3 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr11:87601731:G:C 1,.,. 1.97101e-05 0 3 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr11:87653727:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr11:87691752:A:G 1,.,. 2.62936e-05 0 4 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr11:87749548:C:T 1,.,. 1.97215e-05 0 3 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr11:87792406:C:CCCAG 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr11:87792407:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr11:87806686:A:C 1,.,. 1.97086e-05 0 3 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr11:87832785:TCACTC:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr11:87832792:G:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr11:87943523:T:C 1,.,. 2.62795e-05 0 4 0.000700771 0 2 43,.,. 0.627907,.,. dominant HG002 HG002 chr11:88003765:TTG:T 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.409091,.,. dominant HG002 HG002 chr11:88003768:T:A 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.409091,.,. dominant HG002 HG002 chr11:88439863:C:T 1,.,. 6.6086e-06 0 1 -1 -1 -1 40,.,. 0.575,.,. dominant HG002 HG002 chr11:88916707:C:A 1,.,. -1 -1 -1 -1 -1 -1 GRM5 50_intron 48,.,. 0.583333,.,. GRM5/intron/ 0.9995 0.2794 0.4300 1 dominant HG002 HG002 chr11:89794530:C:T 1,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.380952,.,. dominant HG002 HG002 chr11:89810382:A:G 1,.,. 7.01794e-06 0 1 -1 -1 -1 70,.,. 0.385714,.,. dominant HG002 HG002 chr11:89893201:C:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr11:89897994:A:G 1,.,. -1 -1 -1 -1 -1 -1 AP005435.3 53_non_coding 37,.,. 0.486486,.,. AP005435.3/non_coding/ recessive HG002 HG002 chr11:89903708:A:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr11:90072367:A:T 2,.,. 1.34151e-05 0 2 -1 -1 -1 AP004607.5 53_non_coding 24,.,. 1,.,. AP004607.5/non_coding/ dominant HG002 HG002 chr11:90266896:T:C 1,.,. 1.97073e-05 0 3 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr11:90294801:CTCCCTCCCTCCCTCCCTCCT:C 1,.,. -1 -1 -1 0.000700771 0 2 29,.,. 0.310345,.,. dominant HG002 HG002 chr11:90351235:AAAAAAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr11:90355002:A:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr11:90392620:T:A 1,.,. 1.31428e-05 0 2 -1 -1 -1 37,.,. 0.594595,.,. dominant HG002 HG002 chr11:90404324:A:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.377778,.,. dominant HG002 HG002 chr11:90409295:T:TATTTGTCTAG 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr11:90409296:T:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr11:90447853:C:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.621622,.,. dominant HG002 HG002 chr11:90458472:T:G 1,.,. 1.97163e-05 0 3 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr11:90460283:C:A 1,.,. 1.97566e-05 0 3 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr11:90585641:G:T 1,.,. 1.97163e-05 0 3 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr11:90677231:T:TTAAA 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. recessive HG002 HG002 chr11:91029557:T:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. dominant HG002 HG002 chr11:91031198:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr11:91053013:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr11:91058507:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr11:91106432:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr11:91147179:A:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr11:91213634:G:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr11:91213637:A:AGAT 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr11:91225130:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr11:91603731:C:A 1,.,. 1.97329e-05 0 3 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr11:91842437:A:C 1,.,. 1.97246e-05 0 3 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr11:92058952:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr11:92058954:G:GGTAA 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.394737,.,. dominant HG002 HG002 chr11:92058955:T:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.368421,.,. dominant HG002 HG002 chr11:92218796:A:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.366667,.,. dominant HG002 HG002 chr11:92218862:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr11:92485679:A:T 1,.,. 2.62591e-05 0 4 -1 -1 -1 FAT3 50_intron 36,.,. 0.555556,.,. FAT3/intron/;FAT3/non_coding/ 1.0000 0.2910 0.3470 0 dominant HG002 HG002 chr11:92633786:T:C 1,.,. -1 -1 -1 -1 -1 -1 FAT3 50_intron 35,.,. 0.428571,.,. FAT3/intron/ 1.0000 0.2910 0.3470 0 recessive HG002 HG002 chr11:92814403:G:A 2,.,. -1 -1 -1 -1 -1 -1 FAT3 50_intron 43,.,. 1,.,. FAT3/intron/ 1.0000 0.2910 0.3470 0 dominant HG002 HG002 chr11:92842002:C:A 1,.,. -1 -1 -1 -1 -1 -1 FAT3 50_intron 38,.,. 0.447368,.,. FAT3/intron/ 1.0000 0.2910 0.3470 0 dominant HG002 HG002 chr11:93009340:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr11:93018531:T:C 1,.,. 6.57004e-06 0 1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr11:93298311:G:A 1,.,. 1.31403e-05 0 2 -1 -1 -1 33,.,. 0.575758,.,. dominant HG002 HG002 chr11:93532849:GGGAACCTAAT:G 1,.,. -1 -1 -1 -1 -1 -1 SMCO4 50_intron 44,.,. 0.545455,.,. SMCO4/intron/ 0.0129 1.2430 1.9010 9 dominant HG002 HG002 chr11:93532860:A:T 1,.,. -1 -1 -1 -1 -1 -1 SMCO4 50_intron 42,.,. 0.571429,.,. SMCO4/intron/ 0.0129 1.2430 1.9010 9 dominant HG002 HG002 chr11:93549626:T:TATTTA 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr11:93648264:G:A 1,.,. 1.31416e-05 0 2 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr11:93673950:T:C 1,.,. -1 -1 -1 -1 -1 -1 CEP295 50_intron 35,.,. 0.485714,.,. CEP295/intron/ 0.0000 0.6408 0.7350 2 Seckel syndrome 11 dominant HG002 HG002 chr11:93673953:T:C 1,.,. -1 -1 -1 -1 -1 -1 CEP295 50_intron 34,.,. 0.5,.,. CEP295/intron/ 0.0000 0.6408 0.7350 2 Seckel syndrome 11 recessive HG002 HG002 chr11:93845047:G:C 2,.,. -1 -1 -1 -1 -1 -1 VSTM5 50_intron 31,.,. 1,.,. VSTM5/intron/ 0.0000 0.9942 1.4310 7 dominant HG002 HG002 chr11:93939228:G:T 1,.,. 2.6284e-05 0 4 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr11:94045930:C:T 1,.,. -1 -1 -1 -1 -1 -1 HEPHL1 50_intron 55,.,. 0.490909,.,. HEPHL1/intron/ 0.0000 0.9707 1.1450 6 Pili torti-developmental delay-neurological abnormalities syndrome 0.000 dominant HG002 HG002 chr11:94825702:C:CT 1,.,. 1.31454e-05 0 2 -1 -1 -1 AMOTL1 50_intron 34,.,. 0.441176,.,. AMOTL1/intron/;AMOTL1/non_coding/ 0.0029 0.4507 0.5810 1 CRANIOFACIOCARDIOHEPATIC SYNDROME dominant HG002 HG002 chr11:94882529:T:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr11:94973293:TAGGCG:T 1,.,. -1 -1 -1 -1 -1 -1 CWC15 50_intron 42,.,. 0.690476,.,. CWC15/intron/;CWC15/non_coding/ 0.7572 0.3129 0.6580 2 recessive HG002 HG002 chr11:95122514:ATG:A 2,.,. -1 -1 -1 -1 -1 -1 ENDOD1 50_intron 24,.,. 1,.,. ENDOD1/intron/ 0.0000 1.2468 1.8430 9 recessive HG002 HG002 chr11:95122517:T:G 2,.,. -1 -1 -1 -1 -1 -1 ENDOD1 50_intron 24,.,. 1,.,. ENDOD1/intron/ 0.0000 1.2468 1.8430 9 recessive HG002 HG002 chr11:95149480:A:ATGTATGTG 2,.,. 4.07598e-05 0 1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chr11:95263167:A:C 1,.,. 1.97055e-05 0 3 -1 -1 -1 51,.,. 0.470588,.,. dominant HG002 HG002 chr11:95337498:C:CACACACACACACAA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr11:95751280:C:T 1,.,. 1.97189e-05 0 3 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr11:95776749:AGTT:A 1,.,. 1.98219e-05 0 3 -1 -1 -1 FAM76B 50_intron 35,.,. 0.514286,.,. FAM76B/intron/;FAM76B/non_coding/ 0.9631 0.3348 0.5160 1 dominant HG002 HG002 chr11:95791918:G:C 1,.,. -1 -1 -1 -1 -1 -1 CEP57 50_intron 32,.,. 0.5,.,. CEP57/intron/ 0.0000 0.5561 0.7400 3 Mosaic variegated aneuploidy syndrome 2 0.000 dominant HG002 HG002 chr11:95814069:ATCT:A 1,.,. -1 -1 -1 -1 -1 -1 CEP57 50_intron 29,.,. 0.482759,.,. CEP57/intron/;CEP57/non_coding/ 0.0000 0.5561 0.7400 3 Mosaic variegated aneuploidy syndrome 2 0.000 dominant HG002 HG002 chr11:95814073:C:A 1,.,. -1 -1 -1 -1 -1 -1 CEP57 50_intron 30,.,. 0.466667,.,. CEP57/intron/;CEP57/non_coding/ 0.0000 0.5561 0.7400 3 Mosaic variegated aneuploidy syndrome 2 0.000 dominant HG002 HG002 chr11:95814075:C:T 1,.,. 1.22754e-05 0 1 -1 -1 -1 CEP57 50_intron 30,.,. 0.466667,.,. CEP57/intron/;CEP57/non_coding/ 0.0000 0.5561 0.7400 3 Mosaic variegated aneuploidy syndrome 2 0.000 dominant HG002 HG002 chr11:96002889:GGATGATGGGGATGATGAGAAA:G 1,.,. 3.1125e-05 0 4 -1 -1 -1 MAML2 50_intron 43,.,. 0.55814,.,. MAML2/intron/ 1.0000 0.2160 0.3080 0 recessive HG002 HG002 chr11:96565140:T:TATATATA 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr11:96598812:CAAAG:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.395349,.,. dominant HG002 HG002 chr11:96598818:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.395349,.,. dominant HG002 HG002 chr11:96598819:G:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.395349,.,. dominant HG002 HG002 chr11:96604207:C:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr11:96632720:G:T 1,.,. 1.97148e-05 0 3 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr11:96819222:G:T 1,.,. 1.31593e-05 0 2 -1 -1 -1 41,.,. 0.634146,.,. dominant HG002 HG002 chr11:97080665:A:C 1,.,. 1.97114e-05 0 3 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr11:97085787:C:T 1,.,. 6.57626e-06 0 1 -1 -1 -1 51,.,. 0.529412,.,. dominant HG002 HG002 chr11:97523702:T:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr11:97523703:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr11:97523704:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr11:97523705:T:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. recessive HG002 HG002 chr11:97590275:T:TCAAG 2,.,. 6.57921e-06 0 1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr11:97590276:A:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. dominant HG002 HG002 chr11:97749913:T:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr11:97999583:C:CT 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr11:98040169:CTCT:C 1,.,. 1.97244e-05 0 3 -1 -1 -1 38,.,. 0.394737,.,. dominant HG002 HG002 chr11:98051558:T:A 1,.,. 2.62816e-05 0 4 -1 -1 -1 45,.,. 0.377778,.,. dominant HG002 HG002 chr11:98243213:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.394737,.,. dominant HG002 HG002 chr11:98254422:GCTGGGATTA:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr11:98254433:A:C 1,.,. 2.23494e-05 0 3 -1 -1 -1 45,.,. 0.488889,.,. recessive HG002 HG002 chr11:98314355:TGA:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr11:98314358:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr11:98447409:G:A 1,.,. 1.31567e-05 0 2 -1 -1 -1 36,.,. 0.666667,.,. recessive HG002 HG002 chr11:98448387:A:AAC 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr11:98448388:C:A 2,.,. 6.57073e-06 0 1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr11:98800622:C:A 2,.,. -1 -1 -1 0.0049054 0 14 50,.,. 1,.,. dominant HG002 HG002 chr11:98917076:A:AAAAGG 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr11:98934549:A:G 1,.,. 1.31454e-05 0 2 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr11:99009466:T:C 1,.,. 1.97259e-05 0 3 -1 -1 -1 49,.,. 0.55102,.,. dominant HG002 HG002 chr11:99114424:TCTC:T 1,.,. 6.59718e-06 0 1 -1 -1 -1 CNTN5 50_intron 56,.,. 0.482143,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:99129718:G:T 1,.,. 1.31423e-05 0 2 -1 -1 -1 CNTN5 50_intron 44,.,. 0.590909,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:99293936:C:T 1,.,. 6.60293e-06 0 1 -1 -1 -1 CNTN5 50_intron 46,.,. 0.478261,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:99398278:G:A 1,.,. 1.31797e-05 0 2 -1 -1 -1 CNTN5 50_intron 37,.,. 0.513514,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:99403452:GT:G 1,.,. 6.57981e-06 0 1 -1 -1 -1 CNTN5 50_intron 39,.,. 0.512821,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:99442194:A:T 1,.,. -1 -1 -1 -1 -1 -1 CNTN5 50_intron 48,.,. 0.5,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:99463151:A:T 1,.,. 1.32792e-05 0 2 -1 -1 -1 CNTN5 50_intron 44,.,. 0.477273,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:99560359:C:T 1,.,. 6.60258e-06 0 1 -1 -1 -1 CNTN5 50_intron 49,.,. 0.489796,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:99629676:TTAC:T 1,.,. 4.05976e-05 0 1 -1 -1 -1 CNTN5 50_intron 51,.,. 0.431373,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:99629683:T:C 1,.,. 4.03975e-05 0 1 -1 -1 -1 CNTN5 50_intron 51,.,. 0.45098,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:99645918:A:C 1,.,. -1 -1 -1 -1 -1 -1 CNTN5 50_intron 56,.,. 0.642857,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:99645919:C:A 1,.,. -1 -1 -1 -1 -1 -1 CNTN5 50_intron 56,.,. 0.642857,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:99645920:A:T 1,.,. -1 -1 -1 -1 -1 -1 CNTN5 50_intron 56,.,. 0.642857,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:99841800:TGTG:T 1,.,. -1 -1 -1 -1 -1 -1 CNTN5 50_intron 40,.,. 0.7,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:99841891:TATATA:T 1,.,. -1 -1 -1 -1 -1 -1 CNTN5 50_intron 39,.,. 0.589744,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:100058757:A:G 1,.,. 6.57782e-06 0 1 -1 -1 -1 CNTN5 50_intron 34,.,. 0.352941,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 recessive HG002 HG002 chr11:100290063:C:T 2,.,. 0.00136492 3 205 0.00175193 0 5 CNTN5 50_intron 37,.,. 1,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 recessive HG002 HG002 chr11:100297039:T:C 2,.,. 0.00133133 3 202 0.00175193 0 5 CNTN5 50_intron 38,.,. 1,.,. CNTN5/intron/;CNTN5/non_coding/ 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:100357419:T:C 1,.,. 6.59135e-06 0 1 -1 -1 -1 CNTN5 36_3_prime_utr 42,.,. 0.5,.,. CNTN5/3_prime_utr/ENST00000524871;CNTN5/3_prime_utr/ENST00000279463;CNTN5/3_prime_utr/ENST00000619298 0.0000 0.5919 0.7300 2 dominant HG002 HG002 chr11:100401034:G:A 1,.,. 6.58302e-06 0 1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr11:100479297:G:C 1,.,. -1 -1 -1 0.00140154 0 4 29,.,. 0.655172,.,. dominant HG002 HG002 chr11:100526255:GTTGATA:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr11:100526263:G:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr11:100975364:T:A 1,.,. 6.57376e-06 0 1 -1 -1 -1 ARHGAP42 50_intron 37,.,. 0.405405,.,. ARHGAP42/intron/ 0.0000 0.5151 0.6660 2 recessive HG002 HG002 chr11:101056246:A:T 2,.,. 7.26619e-05 0 11 -1 -1 -1 PGR 50_intron 43,.,. 1,.,. PGR/intron/;PGR/non_coding/ 0.7214 0.3812 0.5540 1 Progesterone resistance 0.000 dominant HG002 HG002 chr11:101190886:C:CT 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr11:101452271:TAC:T 1,.,. -1 -1 -1 -1 -1 -1 TRPC6 36_3_prime_utr 45,.,. 0.577778,.,. TRPC6/3_prime_utr/ENST00000344327 0.0000 0.5566 0.7080 2 Focal segmental glomerulosclerosis 2 0.000 dominant HG002 HG002 chr11:101499603:T:C 1,.,. -1 -1 -1 -1 -1 -1 TRPC6 50_intron 42,.,. 0.47619,.,. TRPC6/intron/;TRPC6/non_coding/ 0.0000 0.5566 0.7080 2 Focal segmental glomerulosclerosis 2 0.000 recessive HG002 HG002 chr11:102347078:C:CCT 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr11:102347079:T:G 2,.,. 6.56694e-06 0 1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr11:102608685:C:CACAA 1,.,. -1 -1 -1 -1 -1 -1 MMP20 50_intron 51,.,. 0.509804,.,. MMP20/intron/ 0.0000 0.9338 1.1970 6 Amelogenesis imperfecta hypomaturation type 2A2 0.000 dominant HG002 HG002 chr11:102608692:C:A 1,.,. 1.97722e-05 0 3 -1 -1 -1 MMP20 50_intron 52,.,. 0.538462,.,. MMP20/intron/ 0.0000 0.9338 1.1970 6 Amelogenesis imperfecta hypomaturation type 2A2 0.000 dominant HG002 HG002 chr11:102708798:T:A 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.563636,.,. dominant HG002 HG002 chr11:102740615:G:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. recessive HG002 HG002 chr11:102815106:C:A 2,.,. -1 -1 -1 -1 -1 -1 WTAPP1 53_non_coding 41,.,. 1,.,. WTAPP1/non_coding/ dominant HG002 HG002 chr11:102919910:A:ATGAAG 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr11:102919911:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. recessive HG002 HG002 chr11:103025381:T:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr11:103025392:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr11:103025394:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr11:103424267:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 DYNC2H1 50_intron 38,.,. 0.473684,.,. DYNC2H1/intron/ 0.0000 0.7834 0.8590 3 Asphyxiating thoracic dystrophy 3 0.000 dominant HG002 HG002 chr11:103424273:T:A 1,.,. -1 -1 -1 -1 -1 -1 DYNC2H1 50_intron 40,.,. 0.475,.,. DYNC2H1/intron/ 0.0000 0.7834 0.8590 3 Asphyxiating thoracic dystrophy 3 0.000 dominant HG002 HG002 chr11:103526119:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.355556,.,. dominant HG002 HG002 chr11:103616190:CTATCT:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr11:103616196:G:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr11:103617477:T:TATATATAGATATAG 1,.,. 2.02424e-05 0 3 -1 -1 -1 44,.,. 0.454545,.,. recessive HG002 HG002 chr11:103855071:ATT:A 2,.,. 0.00749169 2 586 0.0189208 3 54 22,.,. 1,.,. dominant HG002 HG002 chr11:103999909:T:TTGAC 1,.,. -1 -1 -1 -1 -1 -1 PDGFD 50_intron 41,.,. 0.365854,.,. PDGFD/intron/ 0.0000 0.6757 0.9260 4 dominant HG002 HG002 chr11:103999910:C:A 1,.,. -1 -1 -1 -1 -1 -1 PDGFD 50_intron 39,.,. 0.384615,.,. PDGFD/intron/ 0.0000 0.6757 0.9260 4 dominant HG002 HG002 chr11:104116044:C:T 1,.,. -1 -1 -1 -1 -1 -1 PDGFD 50_intron 40,.,. 0.575,.,. PDGFD/intron/ 0.0000 0.6757 0.9260 4 dominant HG002 HG002 chr11:104221128:GCCGAATTAC:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr11:104221138:A:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr11:104492052:G:T 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.481481,.,. recessive HG002 HG002 chr11:104703124:G:A 2,.,. 0.00396825 0 1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr11:104703125:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr11:104753935:A:G 1,.,. 8.62277e-06 0 1 -1 -1 -1 49,.,. 0.510204,.,. dominant HG002 HG002 chr11:104829219:A:T 1,.,. 2.62767e-05 0 4 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr11:104909632:T:A 1,.,. 2.62874e-05 0 4 -1 -1 -1 CASP4LP 53_non_coding 46,.,. 0.543478,.,. CASP4LP/non_coding/ recessive HG002 HG002 chr11:105584428:C:T 2,.,. 0.000775696 0 91 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr11:105948597:T:G 1,.,. -1 -1 -1 -1 -1 -1 GRIA4 50_intron 44,.,. 0.386364,.,. GRIA4/intron/;GRIA4/non_coding/ 0.9993 0.2363 0.4120 1 Neurodevelopmental disorder with or without seizures and gait abnormalities 0.000 dominant HG002 HG002 chr11:105954914:A:T 1,.,. 0.000206889 0 4 -1 -1 -1 GRIA4 50_intron 44,.,. 0.522727,.,. GRIA4/intron/;GRIA4/non_coding/ 0.9993 0.2363 0.4120 1 Neurodevelopmental disorder with or without seizures and gait abnormalities 0.000 dominant HG002 HG002 chr11:106918846:A:T 1,.,. -1 -1 -1 -1 -1 -1 GUCY1A2 50_intron 40,.,. 0.4,.,. GUCY1A2/intron/ 0.0208 0.4747 0.7040 2 recessive HG002 HG002 chr11:106931622:G:A 2,.,. -1 -1 -1 -1 -1 -1 GUCY1A2 50_intron 57,.,. 1,.,. GUCY1A2/intron/ 0.0208 0.4747 0.7040 2 recessive HG002 HG002 chr11:106931623:T:G 2,.,. -1 -1 -1 -1 -1 -1 GUCY1A2 50_intron 56,.,. 1,.,. GUCY1A2/intron/ 0.0208 0.4747 0.7040 2 recessive HG002 HG002 chr11:106931624:G:T 2,.,. -1 -1 -1 -1 -1 -1 GUCY1A2 50_intron 57,.,. 1,.,. GUCY1A2/intron/ 0.0208 0.4747 0.7040 2 recessive HG002 HG002 chr11:107269659:ACTT:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr11:107512309:T:G 1,.,. 1.43995e-05 0 2 -1 -1 -1 ALKBH8 50_intron 45,.,. 0.488889,.,. ALKBH8/intron/ 0.0000 0.5782 0.7970 3 Intellectual developmental disorder, autosomal recessive 71 0.000 dominant HG002 HG002 chr11:107893428:GT:G 1,.,. 1.99119e-05 0 3 -1 -1 -1 SLC35F2 50_intron 26,.,. 0.538462,.,. SLC35F2/intron/ 0.0001 0.6105 0.8870 4 dominant HG002 HG002 chr11:108217883:C:T 1,.,. -1 -1 -1 -1 -1 -1 NPAT 50_intron 37,.,. 0.432432,.,. NPAT/intron/;NPAT/non_coding/ 0.9944 0.3590 0.4740 1 dominant HG002 HG002 chr11:109036931:C:CTTCCTTCCCTCCCTCT 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr11:109125989:C:G 1,.,. -1 -1 -1 0.00140154 0 4 42,.,. 0.47619,.,. recessive HG002 HG002 chr11:109512963:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr11:109519152:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. recessive HG002 HG002 chr11:109865848:T:A 2,.,. -1 -1 -1 -1 -1 -1 RDX 50_intron 40,.,. 1,.,. RDX/intron/ 0.6572 0.3903 0.5420 1 Autosomal recessive nonsyndromic hearing loss 24 0.000 dominant HG002 HG002 chr11:110059057:A:C 1,.,. 2.00032e-05 0 3 -1 -1 -1 RDX 50_intron 44,.,. 0.318182,.,. RDX/intron/ 0.6572 0.3903 0.5420 1 Autosomal recessive nonsyndromic hearing loss 24 0.000 dominant HG002 HG002 chr11:111264618:A:G 1,.,. -1 -1 -1 -1 -1 -1 C11orf53 50_intron 36,.,. 0.388889,.,. C11orf53/intron/;C11orf53/non_coding/ 0.0000 0.9397 1.3650 7 dominant HG002 HG002 chr11:111264619:AGAGAAGAAAGAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 C11orf53 50_intron 36,.,. 0.388889,.,. C11orf53/intron/;C11orf53/non_coding/ 0.0000 0.9397 1.3650 7 dominant HG002 HG002 chr11:111276651:AAG:A 1,.,. 1.24415e-05 0 1 -1 -1 -1 C11orf53 50_intron 31,.,. 0.258065,.,. C11orf53/intron/;C11orf53/non_coding/ 0.0000 0.9397 1.3650 7 dominant HG002 HG002 chr11:111276654:A:G 1,.,. -1 -1 -1 -1 -1 -1 C11orf53 50_intron 28,.,. 0.25,.,. C11orf53/intron/;C11orf53/non_coding/ 0.0000 0.9397 1.3650 7 dominant HG002 HG002 chr11:111664694:C:G 1,.,. -1 -1 -1 -1 -1 -1 SIK2 50_intron 39,.,. 0.538462,.,. SIK2/intron/ 1.0000 0.3040 0.4140 1 recessive HG002 HG002 chr11:111813072:G:GCT 2,.,. -1 -1 -1 -1 -1 -1 ALG9 50_intron 48,.,. 1,.,. ALG9/intron/;ALG9/non_coding/ 0.0000 0.6796 0.8530 3 Gillessen-Kaesbach-Nishimura syndrome;ALG9 congenital disorder of glycosylation 0.000 recessive HG002 HG002 chr11:111813073:T:A 2,.,. -1 -1 -1 -1 -1 -1 ALG9 50_intron 49,.,. 1,.,. ALG9/intron/;ALG9/non_coding/ 0.0000 0.6796 0.8530 3 Gillessen-Kaesbach-Nishimura syndrome;ALG9 congenital disorder of glycosylation 0.000 dominant HG002 HG002 chr11:111877539:T:C 1,.,. -1 -1 -1 -1 -1 -1 AP001781.2;FDXACB1 50_intron 35,.,. 0.742857,.,. AP001781.2/intron/;FDXACB1/intron/ 0.0000 0.7818 1.0140 5 dominant HG002 HG002 chr11:112144682:G:A 1,.,. -1 -1 -1 -1 -1 -1 AP002884.2;IL18 50_intron 35,.,. 0.485714,.,. AP002884.2/non_coding/;AP002884.2/intron/;IL18/intron/;IL18/non_coding/ 0.3178 0.0000 1.8670 9 recessive HG002 HG002 chr11:112387072:T:A 2,.,. 0.00151597 1 207 0.0108619 1 31 35,.,. 1,.,. dominant HG002 HG002 chr11:112893973:C:CT 1,.,. 1.31461e-05 0 2 -1 -1 -1 32,.,. 0.625,.,. dominant HG002 HG002 chr11:112946369:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr11:113004019:AGAG:A 1,.,. -1 -1 -1 -1 -1 -1 NCAM1 50_intron 39,.,. 0.564103,.,. NCAM1/intron/;NCAM1/non_coding/ 1.0000 0.1391 0.2170 0 dominant HG002 HG002 chr11:113004023:G:A 1,.,. -1 -1 -1 -1 -1 -1 NCAM1 50_intron 39,.,. 0.564103,.,. NCAM1/intron/;NCAM1/non_coding/ 1.0000 0.1391 0.2170 0 dominant HG002 HG002 chr11:113237909:T:G 1,.,. -1 -1 -1 -1 -1 -1 NCAM1 50_intron 48,.,. 0.479167,.,. NCAM1/intron/;NCAM1/non_coding/ 1.0000 0.1391 0.2170 0 dominant HG002 HG002 chr11:113644031:CTGTAT:C 1,.,. 6.61743e-06 0 1 -1 -1 -1 25,.,. 0.56,.,. dominant HG002 HG002 chr11:113644038:G:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.538462,.,. dominant HG002 HG002 chr11:113926488:C:T 1,.,. -1 -1 -1 -1 -1 -1 HTR3B 50_intron 33,.,. 0.363636,.,. HTR3B/intron/ 0.0000 0.8737 1.2120 6 dominant HG002 HG002 chr11:114087481:T:G 1,.,. 6.5703e-06 0 1 -1 -1 -1 ZBTB16 50_intron 34,.,. 0.529412,.,. ZBTB16/intron/;ZBTB16/non_coding/ 1.0000 0.1358 0.2450 0 0.000 dominant HG002 HG002 chr11:114256034:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 ZBTB16 36_3_prime_utr 27,.,. 0.481481,.,. ZBTB16/3_prime_utr/ENST00000335953 1.0000 0.1358 0.2450 0 0.000 recessive HG002 HG002 chr11:114359633:T:A 2,.,. 0.00592417 0 5 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr11:114359634:A:ATTCTGCTAC 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr11:114601639:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr11:114961519:C:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. recessive HG002 HG002 chr11:115126656:A:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr11:115366388:C:T 1,.,. -1 -1 -1 -1 -1 -1 CADM1 50_intron 49,.,. 0.428571,.,. CADM1/non_coding/;CADM1/intron/ 0.9996 0.2656 0.4220 1 recessive HG002 HG002 chr11:115380229:G:A 2,.,. -1 -1 -1 -1 -1 -1 CADM1 50_intron 45,.,. 1,.,. CADM1/non_coding/;CADM1/intron/ 0.9996 0.2656 0.4220 1 recessive HG002 HG002 chr11:115397720:A:ATG 2,.,. -1 -1 -1 -1 -1 -1 CADM1 50_intron 45,.,. 1,.,. CADM1/non_coding/;CADM1/intron/ 0.9996 0.2656 0.4220 1 recessive HG002 HG002 chr11:115397721:G:T 2,.,. 6.57281e-06 0 1 -1 -1 -1 CADM1 50_intron 45,.,. 1,.,. CADM1/non_coding/;CADM1/intron/ 0.9996 0.2656 0.4220 1 dominant HG002 HG002 chr11:115439186:A:ATAGTAAAG 1,.,. -1 -1 -1 -1 -1 -1 CADM1 50_intron 45,.,. 0.488889,.,. CADM1/non_coding/;CADM1/intron/ 0.9996 0.2656 0.4220 1 dominant HG002 HG002 chr11:115439188:G:C 1,.,. -1 -1 -1 -1 -1 -1 CADM1 50_intron 45,.,. 0.488889,.,. CADM1/non_coding/;CADM1/intron/ 0.9996 0.2656 0.4220 1 dominant HG002 HG002 chr11:115523096:G:A 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.428571,.,. dominant HG002 HG002 chr11:115638351:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. recessive HG002 HG002 chr11:115670154:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr11:115670156:T:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr11:115670157:G:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr11:115670158:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr11:115703478:G:GTGTGTGTGTC 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr11:115939439:C:T 1,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.474576,.,. dominant HG002 HG002 chr11:117208499:ACCACCATGCT:A 1,.,. -1 -1 -1 -1 -1 -1 PCSK7 50_intron 23,.,. 0.695652,.,. PCSK7/intron/;PCSK7/non_coding/ 0.0000 0.6462 0.8810 4 dominant HG002 HG002 chr11:117208511:A:G 1,.,. -1 -1 -1 -1 -1 -1 PCSK7 50_intron 23,.,. 0.695652,.,. PCSK7/intron/;PCSK7/non_coding/ 0.0000 0.6462 0.8810 4 dominant HG002 HG002 chr11:117243143:A:AATTT 1,.,. -1 -1 -1 -1 -1 -1 RNF214 50_intron 32,.,. 0.375,.,. RNF214/intron/;RNF214/non_coding/ 0.9993 0.2886 0.4380 1 recessive HG002 HG002 chr11:117263318:T:TCTCC 2,.,. -1 -1 -1 -1 -1 -1 RNF214 50_intron 30,.,. 1,.,. RNF214/intron/ 0.9993 0.2886 0.4380 1 recessive HG002 HG002 chr11:117263319:T:A 2,.,. -1 -1 -1 -1 -1 -1 RNF214 50_intron 31,.,. 1,.,. RNF214/intron/ 0.9993 0.2886 0.4380 1 dominant HG002 HG002 chr11:117383287:G:T 1,.,. -1 -1 -1 -1 -1 -1 CEP164 50_intron 40,.,. 0.5,.,. CEP164/intron/;CEP164/non_coding/ 0.0000 0.8821 1.0090 5 Nephronophthisis 15 0.000 dominant HG002 HG002 chr11:117467189:ACACAC:A 1,.,. -1 -1 -1 -1 -1 -1 DSCAML1 50_intron 29,.,. 0.413793,.,. DSCAML1/intron/ 1.0000 0.1930 0.2530 0 dominant HG002 HG002 chr11:117566336:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 DSCAML1 50_intron 31,.,. 0.290323,.,. DSCAML1/intron/ 1.0000 0.1930 0.2530 0 dominant HG002 HG002 chr11:117780371:CA:C 1,.,. 6.57436e-06 0 1 -1 -1 -1 DSCAML1 50_intron 21,.,. 0.380952,.,. DSCAML1/intron/ 1.0000 0.1930 0.2530 0 dominant HG002 HG002 chr11:118038223:C:T 1,.,. -1 -1 -1 -1 -1 -1 SMIM35 50_intron 41,.,. 0.439024,.,. SMIM35/intron/;SMIM35/non_coding/ dominant HG002 HG002 chr11:118263606:G:A 1,.,. -1 -1 -1 -1 -1 -1 MPZL2 50_intron 42,.,. 0.547619,.,. MPZL2/intron/;MPZL2/non_coding/ 0.0000 1.2576 1.7030 8 Hearing loss, autosomal recessive 111 0.000 recessive HG002 HG002 chr11:118736050:CCA:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr11:118736053:C:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr11:118788300:A:C 2,.,. -1 -1 -1 -1 -1 -1 DDX6 50_intron 27,.,. 1,.,. DDX6/intron/;DDX6/non_coding/ 1.0000 0.0270 0.1280 0 Intellectual developmental disorder with impaired language and dysmorphic facies 0.000 recessive HG002 HG002 chr11:118788303:T:A 2,.,. -1 -1 -1 -1 -1 -1 DDX6 50_intron 27,.,. 1,.,. DDX6/intron/;DDX6/non_coding/ 1.0000 0.0270 0.1280 0 Intellectual developmental disorder with impaired language and dysmorphic facies 0.000 recessive HG002 HG002 chr11:118805831:GCAGC:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr11:118805837:G:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr11:118805838:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr11:118871537:T:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871541:TG:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871562:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871638:C:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr11:118871644:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871660:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871661:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr11:118871665:TAGC:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871674:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871675:C:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871719:AGT:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871722:A:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871729:GCT:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr11:118871735:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr11:118871748:GGA:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr11:118871761:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871767:CCG:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871770:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871775:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871776:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871781:CCA:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871784:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871788:C:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr11:118871808:AG:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr11:119003147:T:TTG 2,.,. -1 -1 -1 -1 -1 -1 CCDC84;RPL23AP64 50_intron 37,.,. 1,.,. CCDC84/intron/;CCDC84/non_coding/;RPL23AP64/non_coding/ recessive HG002 HG002 chr11:119003148:G:T 2,.,. -1 -1 -1 -1 -1 -1 CCDC84;RPL23AP64 50_intron 37,.,. 1,.,. CCDC84/intron/;CCDC84/non_coding/;RPL23AP64/non_coding/ recessive HG002 HG002 chr11:119003180:T:TTG 2,.,. -1 -1 -1 -1 -1 -1 CCDC84;RPL23AP64 50_intron 37,.,. 1,.,. CCDC84/intron/;CCDC84/non_coding/;RPL23AP64/non_coding/ recessive HG002 HG002 chr11:119003181:G:T 2,.,. -1 -1 -1 -1 -1 -1 CCDC84;RPL23AP64 50_intron 37,.,. 1,.,. CCDC84/intron/;CCDC84/non_coding/;RPL23AP64/non_coding/ dominant HG002 HG002 chr11:119159380:G:A 1,.,. -1 -1 -1 -1 -1 -1 ABCG4 50_intron 24,.,. 0.666667,.,. ABCG4/intron/;ABCG4/non_coding/ 0.0000 0.5234 0.6940 2 dominant HG002 HG002 chr11:119159381:GGGCAATA:G 1,.,. -1 -1 -1 -1 -1 -1 ABCG4 50_intron 24,.,. 0.666667,.,. ABCG4/intron/;ABCG4/non_coding/ 0.0000 0.5234 0.6940 2 dominant HG002 HG002 chr11:119159389:A:T 1,.,. -1 -1 -1 -1 -1 -1 ABCG4 50_intron 24,.,. 0.666667,.,. ABCG4/intron/;ABCG4/non_coding/ 0.0000 0.5234 0.6940 2 dominant HG002 HG002 chr11:119181969:C:T 1,.,. -1 -1 -1 -1 -1 -1 NLRX1 50_intron 26,.,. 0.576923,.,. NLRX1/intron/ 0.0000 0.8823 1.0850 5 dominant HG002 HG002 chr11:119300340:T:TCAA 1,.,. -1 -1 -1 -1 -1 -1 CBL 36_3_prime_utr 26,.,. 0.769231,.,. CBL/3_prime_utr/ENST00000264033;CBL/3_prime_utr/ENST00000634840 0.0003 0.4780 0.6220 2 CBL-related disorder 0.000 dominant HG002 HG002 chr11:119300341:A:T 1,.,. -1 -1 -1 -1 -1 -1 CBL 36_3_prime_utr 26,.,. 0.769231,.,. CBL/3_prime_utr/ENST00000264033;CBL/3_prime_utr/ENST00000634840 0.0003 0.4780 0.6220 2 CBL-related disorder 0.000 recessive HG002 HG002 chr11:119486285:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr11:119486290:T:C 2,.,. 0.000289184 0 1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr11:119486291:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr11:119486292:A:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr11:119486312:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr11:119486314:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr11:119486315:A:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr11:119486506:TTA:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr11:119486509:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr11:119486549:GGT:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr11:119486552:A:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr11:119539268:C:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr11:119539269:T:TGCCTGCAGTC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. recessive HG002 HG002 chr11:119574793:G:GCTCA 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr11:119780780:T:TTCTTTCTC 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.259259,.,. dominant HG002 HG002 chr11:119780782:T:C 1,.,. 2.02961e-05 0 3 -1 -1 -1 27,.,. 0.259259,.,. dominant HG002 HG002 chr11:119781415:C:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.296296,.,. dominant HG002 HG002 chr11:119880530:T:TGTA 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr11:120045570:C:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. recessive HG002 HG002 chr11:120535292:G:T 2,.,. -1 -1 -1 -1 -1 -1 GRIK4 50_intron 38,.,. 1,.,. GRIK4/intron/ 0.0413 0.4348 0.5870 2 recessive HG002 HG002 chr11:120535294:G:GGTTGCC 2,.,. 4.80426e-05 0 7 -1 -1 -1 GRIK4 50_intron 38,.,. 1,.,. GRIK4/intron/ 0.0413 0.4348 0.5870 2 recessive HG002 HG002 chr11:120930002:T:TAG 2,.,. -1 -1 -1 -1 -1 -1 GRIK4 50_intron 30,.,. 1,.,. GRIK4/intron/;GRIK4/non_coding/ 0.0413 0.4348 0.5870 2 dominant HG002 HG002 chr11:121084353:C:T 1,.,. 1.31659e-05 0 2 -1 -1 -1 TBCEL;TBCEL-TECTA 50_intron 46,.,. 0.391304,.,. TBCEL/intron/;TBCEL-TECTA/non_coding/ 0.9689;;0.3719 0.3279;;0.4042 0.5130;;0.5770 1;;1 recessive HG002 HG002 chr11:121711766:G:C 2,.,. -1 -1 -1 0.00280308 0 8 47,.,. 1,.,. dominant HG002 HG002 chr11:122118619:G:C 1,.,. 6.56944e-06 0 1 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr11:122383030:A:G 1,.,. 1.31468e-05 0 2 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr11:122621024:T:TTTTG 1,.,. 2.25428e-05 0 2 -1 -1 -1 31,.,. 0.354839,.,. dominant HG002 HG002 chr11:122826883:G:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr11:122829526:G:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr11:123321405:G:C 1,.,. 6.57091e-06 0 1 -1 -1 -1 37,.,. 0.648649,.,. dominant HG002 HG002 chr11:123467837:C:CCCTT 1,.,. 1.90157e-05 0 1 -1 -1 -1 GRAMD1B 50_intron 23,.,. 0.304348,.,. GRAMD1B/intron/ 0.0101 0.4884 0.7170 2 dominant HG002 HG002 chr11:123589612:T:TTATATA 1,.,. -1 -1 -1 -1 -1 -1 GRAMD1B 50_intron 22,.,. 0.545455,.,. GRAMD1B/intron/;GRAMD1B/non_coding/ 0.0101 0.4884 0.7170 2 dominant HG002 HG002 chr11:123784672:A:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.509804,.,. dominant HG002 HG002 chr11:124000674:A:AAGGG 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.25,.,. dominant HG002 HG002 chr11:124025919:TTAAA:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5625,.,. dominant HG002 HG002 chr11:124025925:G:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.580645,.,. recessive HG002 HG002 chr11:124256354:G:GGACAAAT 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr11:124256357:T:TCACAGCA 2,.,. 2.42096e-05 0 1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr11:124256358:T:C 2,.,. 6.58944e-06 0 1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr11:124268628:CTAAA:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr11:124268634:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. dominant HG002 HG002 chr11:124994795:T:C 1,.,. 1.31392e-05 0 2 -1 -1 -1 CCDC15 50_intron 33,.,. 0.424242,.,. CCDC15/intron/ 0.0000 1.0351 1.2650 7 recessive HG002 HG002 chr11:125807198:G:A 2,.,. -1 -1 -1 0.0161177 3 46 34,.,. 1,.,. dominant HG002 HG002 chr11:125960257:T:C 1,.,. -1 -1 -1 -1 -1 -1 CDON 36_3_prime_utr 47,.,. 0.510638,.,. CDON/3_prime_utr/ENST00000392693;CDON/3_prime_utr/ENST00000531738 0.0000 0.5963 0.7330 2 Holoprosencephaly 11 0.000 dominant HG002 HG002 chr11:126025526:T:TGA 1,.,. 2.33749e-05 0 2 -1 -1 -1 CDON 50_intron 46,.,. 0.347826,.,. CDON/intron/ 0.0000 0.5963 0.7330 2 Holoprosencephaly 11 0.000 dominant HG002 HG002 chr11:127203819:T:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr11:127324414:T:C 1,.,. 6.57263e-06 0 1 -1 -1 -1 53,.,. 0.509434,.,. dominant HG002 HG002 chr11:127836799:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr11:128108587:GTGAAACAA:G 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.509091,.,. dominant HG002 HG002 chr11:128108596:T:G 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.509091,.,. dominant HG002 HG002 chr11:128202820:G:GAGTGT 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.744186,.,. dominant HG002 HG002 chr11:128202821:T:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.744186,.,. recessive HG002 HG002 chr11:128249352:CACCT:C 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr11:128249357:G:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. dominant HG002 HG002 chr11:128651620:G:GATGTATTTA 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr11:128651621:G:T 1,.,. 1.31978e-05 0 2 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr11:128740076:C:A 1,.,. -1 -1 -1 -1 -1 -1 FLI1 50_intron 26,.,. 0.538462,.,. FLI1/intron/ 1.0000 0.2162 0.3670 0 Bleeding disorder, platelet-type, 21 0.000 dominant HG002 HG002 chr11:128813515:A:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr11:129191310:C:CAAAAGGT 1,.,. -1 -1 -1 -1 -1 -1 ARHGAP32 50_intron 34,.,. 0.617647,.,. ARHGAP32/intron/ 1.0000 0.2691 0.3490 0 dominant HG002 HG002 chr11:129191313:C:T 1,.,. 6.58441e-06 0 1 -1 -1 -1 ARHGAP32 50_intron 33,.,. 0.636364,.,. ARHGAP32/intron/ 1.0000 0.2691 0.3490 0 dominant HG002 HG002 chr11:129191314:G:A 1,.,. 3.24858e-05 0 3 -1 -1 -1 ARHGAP32 50_intron 33,.,. 0.636364,.,. ARHGAP32/intron/ 1.0000 0.2691 0.3490 0 dominant HG002 HG002 chr11:129191315:C:CAAAAGGTA 1,.,. -1 -1 -1 -1 -1 -1 ARHGAP32 50_intron 33,.,. 0.636364,.,. ARHGAP32/intron/ 1.0000 0.2691 0.3490 0 dominant HG002 HG002 chr11:129191317:A:T 1,.,. -1 -1 -1 -1 -1 -1 ARHGAP32 50_intron 32,.,. 0.65625,.,. ARHGAP32/intron/ 1.0000 0.2691 0.3490 0 dominant HG002 HG002 chr11:129812472:AAATACATACATACATACATATAT:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr11:129812499:T:C 1,.,. 0.000141563 0 1 -1 -1 -1 20,.,. 0.7,.,. dominant HG002 HG002 chr11:129812501:T:A 1,.,. -1 -1 -1 0.00105116 0 3 33,.,. 0.424242,.,. dominant HG002 HG002 chr11:129905946:C:T 1,.,. 1.31382e-05 0 2 -1 -1 -1 PRDM10 50_intron 34,.,. 0.470588,.,. PRDM10/intron/ 0.0000 0.4733 0.5880 2 Birt-Hogg-Dube syndrome 2 dominant HG002 HG002 chr11:130341715:C:G 1,.,. 6.57566e-06 0 1 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr11:130456021:G:A 1,.,. 6.57298e-06 0 1 -1 -1 -1 ADAMTS15 50_intron 29,.,. 0.517241,.,. ADAMTS15/intron/ 0.0342 0.4395 0.5990 2 Arthrogryposis, distal, type 12 recessive HG002 HG002 chr11:130970672:C:A 2,.,. 0.00281409 0 158 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr11:131052800:T:TCTACAG 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr11:131052803:A:G 1,.,. 1.97986e-05 0 3 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr11:131137267:C:CACACACATACACACAT 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr11:131228816:T:TTCTTTTC 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr11:131228823:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr11:131228825:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr11:131228827:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.6,.,. recessive HG002 HG002 chr11:131257009:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr11:131522354:AAG:A 1,.,. 0.00242326 0 3 -1 -1 -1 NTM 50_intron 34,.,. 0.382353,.,. NTM/intron/;NTM/non_coding/ 0.9871 0.3092 0.4920 1 dominant HG002 HG002 chr11:131681728:C:CGTGT 1,.,. -1 -1 -1 -1 -1 -1 NTM 50_intron 30,.,. 0.5,.,. NTM/intron/ 0.9871 0.3092 0.4920 1 dominant HG002 HG002 chr11:132022555:C:A 1,.,. 2.18049e-05 0 3 -1 -1 -1 NTM 50_intron 44,.,. 0.386364,.,. NTM/intron/;NTM/non_coding/ 0.9871 0.3092 0.4920 1 dominant HG002 HG002 chr11:132022556:C:CAAGGTCCCTAGA 1,.,. -1 -1 -1 -1 -1 -1 NTM 50_intron 42,.,. 0.357143,.,. NTM/intron/;NTM/non_coding/ 0.9871 0.3092 0.4920 1 dominant HG002 HG002 chr11:132069597:C:T 1,.,. -1 -1 -1 -1 -1 -1 NTM 50_intron 34,.,. 0.5,.,. NTM/intron/;NTM/non_coding/ 0.9871 0.3092 0.4920 1 dominant HG002 HG002 chr11:132217350:C:CTT 1,.,. 9.61816e-06 0 1 -1 -1 -1 NTM 50_intron 56,.,. 0.589286,.,. NTM/intron/;NTM/non_coding/ 0.9871 0.3092 0.4920 1 dominant HG002 HG002 chr11:132646703:T:C 1,.,. 2.62843e-05 0 4 -1 -1 -1 OPCML 50_intron 27,.,. 0.481481,.,. OPCML/intron/;OPCML/non_coding/ 0.9462 0.3276 0.5310 1 Ovarian cancer 0.000 dominant HG002 HG002 chr11:133287281:T:C 1,.,. 6.77296e-06 0 1 -1 -1 -1 OPCML 50_intron 32,.,. 0.34375,.,. OPCML/intron/;OPCML/non_coding/ 0.9462 0.3276 0.5310 1 Ovarian cancer 0.000 dominant HG002 HG002 chr11:133293903:C:A 1,.,. 1.68896e-05 0 1 -1 -1 -1 OPCML 50_intron 39,.,. 0.487179,.,. OPCML/intron/;OPCML/non_coding/ 0.9462 0.3276 0.5310 1 Ovarian cancer 0.000 dominant HG002 HG002 chr11:133458307:C:T 1,.,. -1 -1 -1 -1 -1 -1 OPCML 50_intron 51,.,. 0.568627,.,. OPCML/intron/;OPCML/non_coding/ 0.9462 0.3276 0.5310 1 Ovarian cancer 0.000 dominant HG002 HG002 chr11:133879086:T:TTTA 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.555556,.,. dominant HG002 HG002 chr11:134479907:G:A 1,.,. 1.31441e-05 0 2 -1 -1 -1 AP004608.1 53_non_coding 24,.,. 0.5,.,. AP004608.1/non_coding/ dominant HG002 HG002 chr11:134676434:G:A 1,.,. -1 -1 -1 0.000700771 0 2 30,.,. 0.666667,.,. dominant HG002 HG002 chr11:135040444:A:T 1,.,. -1 -1 -1 0.000700771 0 2 26,.,. 0.538462,.,. dominant HG002 HG002 chr12:128514:G:T 1,.,. -1 -1 -1 -1 -1 -1 IQSEC3 50_intron 29,.,. 0.37931,.,. IQSEC3/intron/ 0.0000 0.5757 0.7320 2 dominant HG002 HG002 chr12:128515:A:C 1,.,. -1 -1 -1 -1 -1 -1 IQSEC3 50_intron 29,.,. 0.37931,.,. IQSEC3/intron/ 0.0000 0.5757 0.7320 2 dominant HG002 HG002 chr12:128517:GGGTGTTGGACAATC:G 1,.,. -1 -1 -1 -1 -1 -1 IQSEC3 50_intron 29,.,. 0.37931,.,. IQSEC3/intron/ 0.0000 0.5757 0.7320 2 dominant HG002 HG002 chr12:292668:A:C 1,.,. 6.56745e-06 0 1 -1 -1 -1 KDM5A 50_intron 40,.,. 0.625,.,. KDM5A/intron/;KDM5A/non_coding/ 1.0000 0.2048 0.2700 0 El Hayek-Chahrour neurodevelopmental disorder dominant HG002 HG002 chr12:295285:G:A 1,.,. -1 -1 -1 -1 -1 -1 KDM5A 50_intron 34,.,. 0.294118,.,. KDM5A/intron/ 1.0000 0.2048 0.2700 0 El Hayek-Chahrour neurodevelopmental disorder dominant HG002 HG002 chr12:295287:A:G 1,.,. -1 -1 -1 -1 -1 -1 KDM5A 50_intron 33,.,. 0.272727,.,. KDM5A/intron/ 1.0000 0.2048 0.2700 0 El Hayek-Chahrour neurodevelopmental disorder dominant HG002 HG002 chr12:295295:G:GAAGA 1,.,. -1 -1 -1 -1 -1 -1 KDM5A 50_intron 29,.,. 0.310345,.,. KDM5A/intron/ 1.0000 0.2048 0.2700 0 El Hayek-Chahrour neurodevelopmental disorder recessive HG002 HG002 chr12:796882:TATGAAGATGC:T 2,.,. -1 -1 -1 -1 -1 -1 WNK1 50_intron 40,.,. 1,.,. WNK1/intron/ 1.0000 0.1726 0.2270 0 Neuropathy, hereditary sensory and autonomic, type 2A;Pseudohypoaldosteronism type 2C;Pseudohypoaldosteronism, type 2 0.000 recessive HG002 HG002 chr12:796894:A:C 2,.,. -1 -1 -1 -1 -1 -1 WNK1 50_intron 40,.,. 1,.,. WNK1/intron/ 1.0000 0.1726 0.2270 0 Neuropathy, hereditary sensory and autonomic, type 2A;Pseudohypoaldosteronism type 2C;Pseudohypoaldosteronism, type 2 0.000 recessive HG002 HG002 chr12:817832:A:ACCCATCAG 2,.,. -1 -1 -1 -1 -1 -1 WNK1 50_intron 47,.,. 1,.,. WNK1/intron/ 1.0000 0.1726 0.2270 0 Neuropathy, hereditary sensory and autonomic, type 2A;Pseudohypoaldosteronism type 2C;Pseudohypoaldosteronism, type 2 0.000 recessive HG002 HG002 chr12:817833:A:C 2,.,. -1 -1 -1 -1 -1 -1 WNK1 50_intron 47,.,. 1,.,. WNK1/intron/ 1.0000 0.1726 0.2270 0 Neuropathy, hereditary sensory and autonomic, type 2A;Pseudohypoaldosteronism type 2C;Pseudohypoaldosteronism, type 2 0.000 dominant HG002 HG002 chr12:922123:A:G 1,.,. 4.78985e-05 0 4 -1 -1 -1 RAD52 50_intron 41,.,. 0.634146,.,. RAD52/intron/;RAD52/non_coding/ 0.0000 0.9342 1.1850 6 dominant HG002 HG002 chr12:990950:T:TGTGA 1,.,. -1 -1 -1 -1 -1 -1 ERC1 50_intron 26,.,. 0.538462,.,. ERC1/intron/ 0.7899 0.3924 0.5030 1 dominant HG002 HG002 chr12:1048880:G:A 1,.,. -1 -1 -1 -1 -1 -1 ERC1 50_intron 33,.,. 0.515152,.,. ERC1/intron/ 0.7899 0.3924 0.5030 1 dominant HG002 HG002 chr12:1076540:G:A 1,.,. 1.31683e-05 0 2 -1 -1 -1 ERC1 50_intron 47,.,. 0.595745,.,. ERC1/intron/ 0.7899 0.3924 0.5030 1 dominant HG002 HG002 chr12:1196838:C:CTCTCTCTCTGTCTG 1,.,. -1 -1 -1 -1 -1 -1 ERC1 50_intron 29,.,. 0.482759,.,. ERC1/intron/;ERC1/non_coding/ 0.7899 0.3924 0.5030 1 dominant HG002 HG002 chr12:1228350:T:TTAAGTTTATTCCTGTGAAAGTCTTGATGCTATTGTAAATAAGATTTTTAAAATTTCTTTTTAGATAGTTCATTGTTAG 1,.,. -1 -1 -1 -1 -1 -1 ERC1 50_intron 35,.,. 0.342857,.,. ERC1/intron/;ERC1/non_coding/ 0.7899 0.3924 0.5030 1 dominant HG002 HG002 chr12:1228357:C:G 1,.,. -1 -1 -1 -1 -1 -1 ERC1 50_intron 37,.,. 0.378378,.,. ERC1/intron/;ERC1/non_coding/ 0.7899 0.3924 0.5030 1 dominant HG002 HG002 chr12:1228359:AAAATAT:A 1,.,. -1 -1 -1 -1 -1 -1 ERC1 50_intron 37,.,. 0.378378,.,. ERC1/intron/;ERC1/non_coding/ 0.7899 0.3924 0.5030 1 dominant HG002 HG002 chr12:1305017:G:T 1,.,. -1 -1 -1 -1 -1 -1 ERC1 50_intron 59,.,. 0.355932,.,. ERC1/intron/;ERC1/non_coding/ 0.7899 0.3924 0.5030 1 dominant HG002 HG002 chr12:1408428:A:T 1,.,. -1 -1 -1 -1 -1 -1 ERC1 50_intron 35,.,. 0.485714,.,. ERC1/intron/;ERC1/non_coding/ 0.7899 0.3924 0.5030 1 dominant HG002 HG002 chr12:1454535:G:C 1,.,. -1 -1 -1 -1 -1 -1 ERC1 50_intron 50,.,. 0.54,.,. ERC1/intron/;ERC1/non_coding/ 0.7899 0.3924 0.5030 1 recessive HG002 HG002 chr12:1485738:CTA:C 2,.,. -1 -1 -1 -1 -1 -1 ERC1 50_intron 41,.,. 1,.,. ERC1/intron/;ERC1/non_coding/ 0.7899 0.3924 0.5030 1 recessive HG002 HG002 chr12:1485742:A:T 2,.,. -1 -1 -1 -1 -1 -1 ERC1 50_intron 41,.,. 1,.,. ERC1/intron/;ERC1/non_coding/ 0.7899 0.3924 0.5030 1 recessive HG002 HG002 chr12:1487809:C:CAAGAGA 2,.,. 2.74642e-05 0 4 -1 -1 -1 ERC1 50_intron 40,.,. 1,.,. ERC1/intron/;ERC1/non_coding/ 0.7899 0.3924 0.5030 1 dominant HG002 HG002 chr12:1543324:C:T 1,.,. -1 -1 -1 -1 -1 -1 WNT5B 50_intron 34,.,. 0.5,.,. WNT5B/intron/ 0.0085 0.4986 0.7390 3 dominant HG002 HG002 chr12:1543325:A:C 1,.,. -1 -1 -1 -1 -1 -1 WNT5B 50_intron 34,.,. 0.5,.,. WNT5B/intron/ 0.0085 0.4986 0.7390 3 dominant HG002 HG002 chr12:1789191:G:GTC 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.647059,.,. recessive HG002 HG002 chr12:1920362:ATTTATTG:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr12:1920371:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr12:1929961:AGAGTGGGATGAAGAGGGGGAGGAAGAGGGG:A 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr12:1929996:A:G 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.458333,.,. recessive HG002 HG002 chr12:2842493:C:G 2,.,. -1 -1 -1 -1 -1 -1 ITFG2 50_intron 24,.,. 1,.,. ITFG2/intron/;ITFG2/non_coding/ 0.0000 0.6170 0.8290 3 recessive HG002 HG002 chr12:2842494:A:C 2,.,. -1 -1 -1 -1 -1 -1 ITFG2 50_intron 25,.,. 1,.,. ITFG2/intron/;ITFG2/non_coding/ 0.0000 0.6170 0.8290 3 recessive HG002 HG002 chr12:2842495:T:A 2,.,. -1 -1 -1 -1 -1 -1 ITFG2 50_intron 25,.,. 1,.,. ITFG2/intron/;ITFG2/non_coding/ 0.0000 0.6170 0.8290 3 dominant HG002 HG002 chr12:2895909:C:CGTATCTAA 1,.,. -1 -1 -1 -1 -1 -1 TULP3 50_intron 31,.,. 0.612903,.,. TULP3/intron/ 0.0000 0.7920 1.0590 5 Hepatorenocardiac degenerative fibrosis 0.000 dominant HG002 HG002 chr12:2895911:T:C 1,.,. 2.64246e-05 0 4 -1 -1 -1 TULP3 50_intron 31,.,. 0.612903,.,. TULP3/intron/ 0.0000 0.7920 1.0590 5 Hepatorenocardiac degenerative fibrosis 0.000 dominant HG002 HG002 chr12:2916406:A:AGCCCCAG 1,.,. -1 -1 -1 -1 -1 -1 TULP3 50_intron 32,.,. 0.6875,.,. TULP3/intron/ 0.0000 0.7920 1.0590 5 Hepatorenocardiac degenerative fibrosis 0.000 dominant HG002 HG002 chr12:2916411:G:T 1,.,. 6.58987e-06 0 1 -1 -1 -1 TULP3 50_intron 32,.,. 0.71875,.,. TULP3/intron/ 0.0000 0.7920 1.0590 5 Hepatorenocardiac degenerative fibrosis 0.000 dominant HG002 HG002 chr12:2993897:C:T 1,.,. 1.97099e-05 0 3 0.000700771 0 2 TEAD4 50_intron 36,.,. 0.444444,.,. TEAD4/intron/ 0.0000 0.6730 0.8890 4 recessive HG002 HG002 chr12:3032732:GGTGAAATCAGA:G 2,.,. -1 -1 -1 -1 -1 -1 TEAD4 50_intron 32,.,. 1,.,. TEAD4/intron/ 0.0000 0.6730 0.8890 4 recessive HG002 HG002 chr12:3032745:A:G 2,.,. -1 -1 -1 -1 -1 -1 TEAD4 50_intron 33,.,. 1,.,. TEAD4/intron/ 0.0000 0.6730 0.8890 4 dominant HG002 HG002 chr12:3402134:C:CAT 1,.,. -1 -1 -1 -1 -1 -1 PRMT8 50_intron 42,.,. 0.428571,.,. PRMT8/intron/ 1.0000 0.1562 0.2930 0 dominant HG002 HG002 chr12:3402135:T:A 1,.,. -1 -1 -1 -1 -1 -1 PRMT8 50_intron 42,.,. 0.428571,.,. PRMT8/intron/ 1.0000 0.1562 0.2930 0 dominant HG002 HG002 chr12:3617265:A:ATTG 1,.,. -1 -1 -1 -1 -1 -1 CRACR2A 50_intron 41,.,. 0.609756,.,. CRACR2A/intron/ 0.0000 0.8006 0.9690 4 dominant HG002 HG002 chr12:3617267:G:A 1,.,. -1 -1 -1 -1 -1 -1 CRACR2A 50_intron 39,.,. 0.615385,.,. CRACR2A/intron/ 0.0000 0.8006 0.9690 4 dominant HG002 HG002 chr12:3952541:CCGTGTTA:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr12:3952549:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr12:3952551:T:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr12:4626802:A:C 1,.,. -1 -1 -1 -1 -1 -1 AKAP3 30_synonymous 46,.,. 0.391304,.,. AKAP3/synonymous/ENST00000545990;AKAP3/synonymous/ENST00000228850 0.0213 0.4493 0.6200 2 Spermatogenic failure 82 dominant HG002 HG002 chr12:4626803:G:A 1,.,. -1 -1 -1 -1 -1 -1 AKAP3 14_missense 46,.,. 0.391304,.,. AKAP3/missense/ENST00000545990;AKAP3/missense/ENST00000228850 0.0213 0.4493 0.6200 2 Spermatogenic failure 82 dominant HG002 HG002 chr12:4626804:A:G 1,.,. -1 -1 -1 -1 -1 -1 AKAP3 14_missense 46,.,. 0.391304,.,. AKAP3/missense/ENST00000545990;AKAP3/missense/ENST00000228850 0.0213 0.4493 0.6200 2 Spermatogenic failure 82 dominant HG002 HG002 chr12:5211968:AGAG:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr12:5211973:A:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr12:5211982:G:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr12:5575836:G:A 1,.,. 6.57618e-06 0 1 -1 -1 -1 ANO2 20_splice_region 35,.,. 0.714286,.,. ANO2/splice_region/ENST00000546188;ANO2/synonymous/ENST00000546188;ANO2/splice_region/ENST00000327087;ANO2/synonymous/ENST00000327087;ANO2/splice_region/ENST00000650848;ANO2/synonymous/ENST00000650848;ANO2/splice_region/ENST00000356134;ANO2/synonymous/ENST00000356134 0.0000 0.8682 1.0220 5 dominant HG002 HG002 chr12:5575837:C:A 1,.,. -1 -1 -1 -1 -1 -1 ANO2 14_missense 35,.,. 0.714286,.,. ANO2/missense/ENST00000546188;ANO2/missense/ENST00000327087;ANO2/missense/ENST00000650848;ANO2/missense/ENST00000356134 0.0000 0.8682 1.0220 5 recessive HG002 HG002 chr12:5812384:A:G 2,.,. 0.000188598 0 14 -1 -1 -1 ANO2 50_intron 27,.,. 1,.,. ANO2/intron/ 0.0000 0.8682 1.0220 5 dominant HG002 HG002 chr12:5963674:GTTTGT:G 1,.,. -1 -1 -1 -1 -1 -1 VWF 50_intron 38,.,. 0.447368,.,. VWF/intron/;VWF/non_coding/ 0.0000 0.5638 0.6390 2 Hereditary von Willebrand disease;von Willebrand disease type 1;von Willebrand disease type 3;von Willebrand disease type 2 0.000 dominant HG002 HG002 chr12:6181481:C:CATGT 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr12:6181484:G:C 1,.,. 6.75694e-06 0 1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr12:6381181:C:T 1,.,. 2.63013e-05 0 4 -1 -1 -1 LTBR 50_intron 23,.,. 0.608696,.,. LTBR/non_coding/;LTBR/intron/ 0.9795 0.3301 0.5010 1 dominant HG002 HG002 chr12:6504224:G:T 1,.,. -1 -1 -1 0.000700771 0 2 NCAPD2 50_intron 32,.,. 0.59375,.,. NCAPD2/non_coding/;NCAPD2/intron/ 0.0000 0.5822 0.6870 2 Microcephaly 21, primary, autosomal recessive 0.000 dominant HG002 HG002 chr12:6532059:GTCCTAGGGCCT:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr12:6532072:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr12:6580241:C:A 1,.,. -1 -1 -1 -1 -1 -1 AC006064.6;CHD4 50_intron 31,.,. 0.451613,.,. AC006064.6/intron/;CHD4/intron/;CHD4/non_coding/ 1.0000 0.1445 0.1920 0 Sifrim-Hitz-Weiss syndrome 0.000 dominant HG002 HG002 chr12:6607667:CCCCAACACACACACA:C 1,.,. -1 -1 -1 -1 -1 -1 CHD4 50_intron 26,.,. 0.423077,.,. CHD4/intron/;CHD4/non_coding/ 1.0000 0.1445 0.1920 0 Sifrim-Hitz-Weiss syndrome 0.000 dominant HG002 HG002 chr12:6607683:C:A 1,.,. -1 -1 -1 -1 -1 -1 CHD4 50_intron 27,.,. 0.407407,.,. CHD4/intron/;CHD4/non_coding/ 1.0000 0.1445 0.1920 0 Sifrim-Hitz-Weiss syndrome 0.000 dominant HG002 HG002 chr12:6793692:CTATCTATCTA:C 1,.,. -1 -1 -1 -1 -1 -1 CD4 50_intron 19,.,. 0.421053,.,. CD4/non_coding/;CD4/intron/ 0.0061 0.4783 0.6730 2 Immunodeficiency 79;Okt4 epitope deficiency 0.000 dominant HG002 HG002 chr12:7001990:C:T 1,.,. 6.57851e-06 0 1 -1 -1 -1 LPCAT3 50_intron 33,.,. 0.454545,.,. LPCAT3/intron/;LPCAT3/non_coding/ 0.9908 0.3235 0.4850 1 recessive HG002 HG002 chr12:7241701:TGA:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr12:7241704:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr12:7552834:A:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. dominant HG002 HG002 chr12:7716604:C:T 1,.,. -1 -1 -1 -1 -1 -1 DPPA3 50_intron 31,.,. 0.354839,.,. DPPA3/intron/ 0.0083 0.6377 1.1130 6 dominant HG002 HG002 chr12:7716606:TTCAC:T 1,.,. 0.000115527 0 2 -1 -1 -1 DPPA3 50_intron 31,.,. 0.354839,.,. DPPA3/intron/ 0.0083 0.6377 1.1130 6 dominant HG002 HG002 chr12:7796401:ACAT:A 1,.,. -1 -1 -1 -1 -1 -1 NANOG 36_3_prime_utr 33,.,. 0.636364,.,. NANOG/3_prime_utr/ENST00000229307 0.9910 0.1271 0.4000 0 dominant HG002 HG002 chr12:7796406:T:G 1,.,. -1 -1 -1 -1 -1 -1 NANOG 36_3_prime_utr 33,.,. 0.636364,.,. NANOG/3_prime_utr/ENST00000229307 0.9910 0.1271 0.4000 0 dominant HG002 HG002 chr12:7796407:G:T 1,.,. -1 -1 -1 -1 -1 -1 NANOG 36_3_prime_utr 33,.,. 0.636364,.,. NANOG/3_prime_utr/ENST00000229307 0.9910 0.1271 0.4000 0 dominant HG002 HG002 chr12:7810254:T:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.531915,.,. dominant HG002 HG002 chr12:7976556:T:G 1,.,. 6.59448e-06 0 1 -1 -1 -1 31,.,. 0.548387,.,. recessive HG002 HG002 chr12:8298379:AGCTG:A 2,.,. -1 -1 -1 -1 -1 -1 ENPP7P5 53_non_coding 32,.,. 1,.,. ENPP7P5/non_coding/ recessive HG002 HG002 chr12:8298384:T:C 2,.,. -1 -1 -1 -1 -1 -1 ENPP7P5 53_non_coding 32,.,. 1,.,. ENPP7P5/non_coding/ dominant HG002 HG002 chr12:8551350:TAC:T 1,.,. 1.33538e-05 0 2 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr12:8551357:G:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr12:8978657:T:C 1,.,. -1 -1 -1 -1 -1 -1 KLRG1 50_intron 42,.,. 0.5,.,. KLRG1/intron/;KLRG1/non_coding/ 0.0008 0.7572 1.2530 7 dominant HG002 HG002 chr12:9403162:G:GGGCTCTTAGGACCCCCATCGCAGTGGGAGGATGCACCACCCGTGAGGCGCGGCTCAGAGCCAGGCCCTCTTCCCCACCT 1,.,. -1 -1 -1 -1 -1 -1 AC141557.1 53_non_coding 16,.,. 0.5,.,. AC141557.1/non_coding/ recessive HG002 HG002 chr12:9464100:T:A 2,.,. 6.60572e-06 0 1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr12:9480211:C:A 2,.,. -1 -1 -1 0.00210231 1 6 24,.,. 1,.,. dominant HG002 HG002 chr12:9938160:ATTAT:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr12:9938165:G:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr12:10016851:T:C 1,.,. -1 -1 -1 -1 -1 -1 CLEC12B 36_3_prime_utr 62,.,. 0.516129,.,. CLEC12B/3_prime_utr&NMD_transcript/ENST00000539155;CLEC12B/3_prime_utr/ENST00000396502 0.0006 0.5962 0.8940 4 dominant HG002 HG002 chr12:10022398:T:TTTCC 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.517857,.,. dominant HG002 HG002 chr12:10209029:CACACACACACACAA:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.342857,.,. recessive HG002 HG002 chr12:10424955:A:T 2,.,. -1 -1 -1 0.00175193 0 5 AC068775.1 50_intron 63,.,. 1,.,. AC068775.1/intron/ recessive HG002 HG002 chr12:10424962:T:A 2,.,. -1 -1 -1 0.00175193 0 5 AC068775.1 50_intron 63,.,. 1,.,. AC068775.1/intron/ recessive HG002 HG002 chr12:10424965:T:TTCTTTTTCTAC 2,.,. -1 -1 -1 -1 -1 -1 AC068775.1 50_intron 63,.,. 1,.,. AC068775.1/intron/ dominant HG002 HG002 chr12:10661844:TTG:T 1,.,. 6.59544e-05 0 2 -1 -1 -1 STYK1 50_intron 37,.,. 0.621622,.,. STYK1/intron/ 0.0000 0.8901 1.1380 6 dominant HG002 HG002 chr12:10661853:A:T 1,.,. 3.30732e-05 0 1 -1 -1 -1 STYK1 50_intron 36,.,. 0.638889,.,. STYK1/intron/ 0.0000 0.8901 1.1380 6 recessive HG002 HG002 chr12:10829237:TATATATAC:T 2,.,. -1 -1 -1 -1 -1 -1 PRH1 50_intron 50,.,. 0.98,.,. PRH1/intron/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11034533:T:TTTGCA 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 44,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11034534:C:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 45,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11068980:TCACTGCTCTC:T 2,.,. 5.44603e-05 0 1 -1 -1 -1 AC018630.2;PRH1 50_intron 42,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11068998:C:G 2,.,. 0.00112473 0 20 -1 -1 -1 AC018630.2;PRH1 50_intron 41,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11069789:A:C 2,.,. 6.70691e-05 0 1 -1 -1 -1 AC018630.2;PRH1 50_intron 47,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11069791:G:A 2,.,. 6.59874e-06 0 1 -1 -1 -1 AC018630.2;PRH1 50_intron 47,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11069792:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 47,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11071601:A:C 2,.,. 6.68628e-05 0 1 -1 -1 -1 AC018630.2;PRH1 50_intron 46,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11071602:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 46,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11071603:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 46,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11074578:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 46,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11074580:T:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 46,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11076424:A:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 42,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11076758:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 41,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11076767:CAT:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 41,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11076772:C:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 41,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11076782:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 40,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11077024:T:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 42,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11077025:T:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 42,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11077029:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 42,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11077033:GAAA:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 42,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11077194:T:TATTATATATATATAAAAGACTATCCTAGGA 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 37,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11079023:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 42,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11079130:G:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 38,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11080446:A:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 42,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11080447:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 42,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11080449:T:C 2,.,. 1.2516e-05 0 1 -1 -1 -1 AC018630.2;PRH1 50_intron 42,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11080825:ACATGATTCC:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 39,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11080839:A:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 40,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11082321:C:T 2,.,. 2.68654e-05 1 3 -1 -1 -1 AC018630.2;PRH1 50_intron 38,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11083517:T:A 2,.,. 7.21667e-06 0 1 -1 -1 -1 AC018630.2;PRH1 50_intron 35,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11083838:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 34,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11083839:A:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 35,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11083842:C:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 34,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11085145:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 28,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11086906:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 25,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11087919:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 23,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11088348:TAGC:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 21,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11088354:T:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 21,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11088366:T:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 21,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11089921:T:C 2,.,. 0.00130001 2 121 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11089922:A:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11089951:T:A 2,.,. 0.0074141 3 656 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11089954:T:C 2,.,. 0.0162224 3 1362 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11089957:T:C 2,.,. 0.0157965 3 1327 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11089969:G:A 2,.,. 0.0140187 3 1179 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090023:G:A 2,.,. 0.0127975 3 1086 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090036:G:A 2,.,. 0.0113186 1 960 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090041:C:T 2,.,. 0.0107124 0 913 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090079:T:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090083:G:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090086:C:T 2,.,. 1.93693e-05 0 2 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090089:A:AGTCAT 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090110:G:A 2,.,. 1.85525e-05 0 2 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090150:A:T 2,.,. 9.54599e-05 0 10 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090180:T:C 2,.,. 0.000242046 0 25 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090184:T:C 2,.,. 0.000213389 0 22 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090185:G:A 2,.,. 0.000226013 0 23 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090198:A:T 2,.,. 0.000250395 0 26 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090200:T:G 2,.,. 0.000291223 0 30 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090203:C:A 2,.,. 0.000355051 0 36 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090207:T:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090229:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090230:G:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090235:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090266:G:C 2,.,. 0.00212335 0 193 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090273:A:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090283:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090298:A:T 2,.,. 0.00110415 0 104 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090308:A:ATAGT 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 15,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090313:A:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090319:C:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090320:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090329:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090368:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090369:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090373:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090379:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090381:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090398:A:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090410:A:G 2,.,. 0.000172844 0 18 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090416:C:T 2,.,. 2.70149e-05 0 3 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090417:T:C 2,.,. 0.000153622 0 16 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090425:G:A 2,.,. 0.000193467 0 19 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090446:G:C 2,.,. 0.000266377 0 24 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090487:C:CT 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090512:A:G 2,.,. 3.14637e-05 0 3 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090517:C:G 2,.,. 3.19326e-05 0 3 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090518:AT:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090523:T:C 2,.,. 3.12077e-05 0 3 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090531:C:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090541:T:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090559:A:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090571:G:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090572:A:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090573:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090577:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090586:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 15,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090602:A:ACTTGCT 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090604:G:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090612:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090618:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090626:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090628:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090643:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090646:T:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090654:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090658:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090660:A:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090664:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090668:C:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090675:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090684:T:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090697:TTCTA:T 2,.,. 9.02788e-06 0 1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090713:C:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090714:A:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090729:A:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090740:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090761:A:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090764:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090766:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090776:T:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090785:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090817:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090818:T:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090820:T:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090830:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090837:A:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090849:A:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090861:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090862:C:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090887:G:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090896:T:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090904:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090917:C:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090944:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090962:T:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090964:A:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090984:A:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11090996:A:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091008:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091031:T:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091040:T:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091041:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091054:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091068:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091082:G:GT 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091089:T:C 2,.,. 0.000292013 2 8 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091141:T:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 15,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091160:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091170:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091173:T:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091211:G:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091214:T:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091221:A:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091222:C:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091224:A:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091265:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 dominant HG002 HG002 chr12:11091284:T:C 1,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 0.470588,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11091293:C:T 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 36_3_prime_utr 17,.,. 1,.,. TAS2R43/3_prime_utr/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091294:G:C 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 36_3_prime_utr 17,.,. 1,.,. TAS2R43/3_prime_utr/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091330:C:T 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 03_stop_gained 17,.,. 1,.,. TAS2R43/stop_gained/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091361:A:T 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 14_missense 17,.,. 1,.,. TAS2R43/missense/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091472:C:T 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 14_missense 16,.,. 1,.,. TAS2R43/missense/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091591:A:G 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 30_synonymous 17,.,. 1,.,. TAS2R43/synonymous/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091626:A:G 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 30_synonymous 17,.,. 1,.,. TAS2R43/synonymous/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091635:T:C 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 14_missense 17,.,. 1,.,. TAS2R43/missense/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091644:T:G 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 14_missense 17,.,. 1,.,. TAS2R43/missense/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091653:G:T 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 14_missense 17,.,. 1,.,. TAS2R43/missense/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091654:T:C 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 30_synonymous 17,.,. 1,.,. TAS2R43/synonymous/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091660:C:T 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 30_synonymous 17,.,. 1,.,. TAS2R43/synonymous/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091662:G:C 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 14_missense 17,.,. 1,.,. TAS2R43/missense/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091666:G:A 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 30_synonymous 17,.,. 1,.,. TAS2R43/synonymous/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091937:A:G 2,.,. 0.00104509 0 103 -1 -1 -1 TAS2R43 14_missense 17,.,. 1,.,. TAS2R43/missense/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091955:T:C 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 14_missense 16,.,. 1,.,. TAS2R43/missense/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091956:T:C 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 14_missense 17,.,. 1,.,. TAS2R43/missense/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11091958:A:G 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 14_missense 17,.,. 1,.,. TAS2R43/missense/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11092194:C:T 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 30_synonymous 17,.,. 1,.,. TAS2R43/synonymous/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11092198:C:A 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 14_missense 17,.,. 1,.,. TAS2R43/missense/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11092206:A:T 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 30_synonymous 17,.,. 1,.,. TAS2R43/synonymous/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11092215:T:C 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 30_synonymous 17,.,. 1,.,. TAS2R43/synonymous/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11092247:A:G 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 35_5_prime_utr 16,.,. 1,.,. TAS2R43/5_prime_utr/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11092250:T:A 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 35_5_prime_utr 17,.,. 1,.,. TAS2R43/5_prime_utr/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11092256:T:A 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 35_5_prime_utr 17,.,. 1,.,. TAS2R43/5_prime_utr/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11092272:G:A 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 35_5_prime_utr 17,.,. 1,.,. TAS2R43/5_prime_utr/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11092279:A:G 2,.,. -1 -1 -1 -1 -1 -1 TAS2R43 35_5_prime_utr 16,.,. 1,.,. TAS2R43/5_prime_utr/ENST00000531678 0.3086 0.0000 1.8770 9 recessive HG002 HG002 chr12:11092322:G:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092327:C:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092338:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092339:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092341:G:A 2,.,. 0.000101184 2 8 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092353:T:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 dominant HG002 HG002 chr12:11092366:G:GGCATGGCCCCAGGGCTGAGCAGTAGCAAGGTTTCAGCTCTTAAAGACT 1,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 0.529412,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092389:A:G 2,.,. 1.0021e-05 0 1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092405:A:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092413:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092425:C:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092449:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092453:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092461:G:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092511:T:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092516:T:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092556:C:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092557:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092581:T:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092592:A:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092597:A:ATG 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092601:C:CGCTGATTGGTGCCTTTTACAGAGAGCTGATTGGTGCATTTTACAATCCTCTGGCTAGCTAGAGTGCTGATTGGTGCATTTTTACAGAGTGTTGACTGGTGCATTTTATAATTCCCATGCTACCTAAAGAGTGCT 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092617:C:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092623:T:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 16,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092625:T:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092631:G:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092635:C:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092640:C:T 2,.,. 2.73688e-05 0 3 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092649:C:G 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092654:G:C 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11092663:T:A 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 17,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11143748:TATAAAGGGGTCAACTC:T 2,.,. -1 -1 -1 -1 -1 -1 AC018630.2;PRH1 50_intron 44,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11143767:C:G 2,.,. 2.13703e-05 0 1 -1 -1 -1 AC018630.2;PRH1 50_intron 44,.,. 1,.,. AC018630.2/intron/;PRH1/non_coding/ 0.0037 0.8853 1.6160 8 recessive HG002 HG002 chr12:11268007:G:T 2,.,. 0.00399552 0 521 0.0266293 1 76 PRB3 14_missense 42,.,. 1,.,. PRB3/missense/ENST00000538488;PRB3/missense/ENST00000381842 0.0004 1.0425 1.7310 8 dominant HG002 HG002 chr12:11725565:C:T 1,.,. -1 -1 -1 -1 -1 -1 ETV6 50_intron 48,.,. 0.479167,.,. ETV6/intron/;ETV6/non_coding/ 0.9989 0.2766 0.4400 1 Thrombocytopenia 5 0.000 dominant HG002 HG002 chr12:11796777:T:TTG 1,.,. 9.64432e-06 0 1 -1 -1 -1 ETV6 50_intron 49,.,. 0.367347,.,. ETV6/intron/;ETV6/non_coding/ 0.9989 0.2766 0.4400 1 Thrombocytopenia 5 0.000 dominant HG002 HG002 chr12:12001688:A:AAG 1,.,. 4.56517e-05 0 2 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr12:12001689:G:A 1,.,. 6.69631e-06 0 1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr12:12004064:C:CTGGAGAT 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr12:12004065:G:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. recessive HG002 HG002 chr12:12054503:CGAAAAAA:C 2,.,. -1 -1 -1 0.00175193 0 5 BCL2L14 50_intron 31,.,. 1,.,. BCL2L14/intron/;BCL2L14/non_coding/ 0.0001 0.6540 0.9600 4 recessive HG002 HG002 chr12:12078799:G:T 2,.,. 0.000486183 0 74 0.00280308 0 8 BCL2L14 50_intron 31,.,. 1,.,. BCL2L14/intron/ 0.0001 0.6540 0.9600 4 dominant HG002 HG002 chr12:12657346:G:GAA 1,.,. -1 -1 -1 0.000700771 0 2 35,.,. 0.6,.,. dominant HG002 HG002 chr12:12799429:T:A 1,.,. -1 -1 -1 -1 -1 -1 APOLD1 50_intron 32,.,. 0.375,.,. APOLD1/intron/;APOLD1/non_coding/ 0.0000 1.7328 1.9590 9 Bleeding disorder, vascular-type dominant HG002 HG002 chr12:12928410:T:TATAC 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.589744,.,. dominant HG002 HG002 chr12:12928494:C:T 1,.,. -1 -1 -1 0.000700771 0 2 38,.,. 0.578947,.,. dominant HG002 HG002 chr12:12987608:C:CTCTCTT 1,.,. 4.153e-05 0 2 -1 -1 -1 HEBP1 50_intron 36,.,. 0.333333,.,. HEBP1/intron/ 0.0025 0.6306 1.0220 5 dominant HG002 HG002 chr12:13048501:C:CCA 1,.,. 6.58744e-06 0 1 -1 -1 -1 FAM234B 50_intron 37,.,. 0.513514,.,. FAM234B/intron/ 0.0247 0.4487 0.6230 2 dominant HG002 HG002 chr12:13048504:TTCTGTTTTCTGTTATCCTCTTTTCTGTTATCC:T 1,.,. -1 -1 -1 -1 -1 -1 FAM234B 50_intron 37,.,. 0.513514,.,. FAM234B/intron/ 0.0247 0.4487 0.6230 2 dominant HG002 HG002 chr12:13073669:A:T 1,.,. -1 -1 -1 -1 -1 -1 FAM234B 50_intron 31,.,. 0.580645,.,. FAM234B/intron/;FAM234B/non_coding/ 0.0247 0.4487 0.6230 2 dominant HG002 HG002 chr12:13073670:ATAT:A 1,.,. -1 -1 -1 -1 -1 -1 FAM234B 50_intron 32,.,. 0.5625,.,. FAM234B/intron/;FAM234B/non_coding/ 0.0247 0.4487 0.6230 2 dominant HG002 HG002 chr12:13211992:T:G 1,.,. 6.57186e-06 0 1 -1 -1 -1 EMP1 50_intron 39,.,. 0.512821,.,. EMP1/intron/;EMP1/non_coding/ 0.8180 0.2992 0.6290 2 dominant HG002 HG002 chr12:13405256:GCCCTGATCCTGGA:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr12:13405273:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr12:13514913:T:C 1,.,. -1 -1 -1 -1 -1 -1 GRIN2B 50_intron 41,.,. 0.463415,.,. GRIN2B/intron/ 1.0000 0.0484 0.1020 0 Intellectual disability, autosomal dominant 6;Developmental and epileptic encephalopathy, 27 0.000 dominant HG002 HG002 chr12:13581490:GAGA:G 1,.,. 2.63352e-05 0 4 -1 -1 -1 GRIN2B 50_intron 26,.,. 0.307692,.,. GRIN2B/intron/;GRIN2B/non_coding/ 1.0000 0.0484 0.1020 0 Intellectual disability, autosomal dominant 6;Developmental and epileptic encephalopathy, 27 0.000 dominant HG002 HG002 chr12:13581494:A:G 1,.,. -1 -1 -1 -1 -1 -1 GRIN2B 50_intron 27,.,. 0.296296,.,. GRIN2B/intron/;GRIN2B/non_coding/ 1.0000 0.0484 0.1020 0 Intellectual disability, autosomal dominant 6;Developmental and epileptic encephalopathy, 27 0.000 dominant HG002 HG002 chr12:14493898:G:A 1,.,. -1 -1 -1 -1 -1 -1 ATF7IP 50_intron 38,.,. 0.421053,.,. ATF7IP/intron/ 1.0000 0.1983 0.2940 0 dominant HG002 HG002 chr12:14586725:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.65,.,. dominant HG002 HG002 chr12:15509695:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 PTPRO 50_intron 30,.,. 0.433333,.,. PTPRO/intron/ 0.1671 0.4120 0.5130 1 Nephrotic syndrome, type 6 0.000 dominant HG002 HG002 chr12:15745705:G:A 1,.,. -1 -1 -1 -1 -1 -1 EPS8 50_intron 57,.,. 0.491228,.,. EPS8/intron/ 0.9994 0.3048 0.4430 1 Autosomal recessive nonsyndromic hearing loss 102 0.000 dominant HG002 HG002 chr12:15949458:A:AGGCTCCGTG 1,.,. -1 -1 -1 -1 -1 -1 DERA 50_intron 43,.,. 0.55814,.,. DERA/intron/ 0.3407 0.4058 0.6580 2 dominant HG002 HG002 chr12:15949460:C:G 1,.,. -1 -1 -1 -1 -1 -1 DERA 50_intron 43,.,. 0.55814,.,. DERA/intron/ 0.3407 0.4058 0.6580 2 dominant HG002 HG002 chr12:16176995:T:TGCTCTCACTCCC 1,.,. 1.12544e-05 0 1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr12:17629762:CTACTT:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr12:17678858:A:AAGAGAGAG 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. dominant HG002 HG002 chr12:17693961:TATAC:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr12:17693967:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr12:17769235:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr12:17769236:T:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr12:17769237:T:A 1,.,. 6.57419e-06 0 1 -1 -1 -1 41,.,. 0.512195,.,. recessive HG002 HG002 chr12:17848908:A:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr12:17854598:T:A 1,.,. 6.57402e-06 0 1 -1 -1 -1 27,.,. 0.555556,.,. dominant HG002 HG002 chr12:17860696:T:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.369565,.,. dominant HG002 HG002 chr12:18096712:C:CATGCATGT 1,.,. -1 -1 -1 -1 -1 -1 RERGL 53_non_coding 30,.,. 0.433333,.,. RERGL/non_coding/ 0.0002 0.7890 1.2540 7 dominant HG002 HG002 chr12:18097752:T:TATATA 1,.,. -1 -1 -1 -1 -1 -1 RERGL 53_non_coding 31,.,. 0.580645,.,. RERGL/non_coding/ 0.0002 0.7890 1.2540 7 dominant HG002 HG002 chr12:18097753:T:C 1,.,. -1 -1 -1 -1 -1 -1 RERGL 53_non_coding 31,.,. 0.580645,.,. RERGL/non_coding/ 0.0002 0.7890 1.2540 7 recessive HG002 HG002 chr12:18098563:T:A 2,.,. 0.00128991 3 168 0.00560617 0 16 RERGL 53_non_coding 29,.,. 1,.,. RERGL/non_coding/ 0.0002 0.7890 1.2540 7 dominant HG002 HG002 chr12:18134152:G:A 1,.,. -1 -1 -1 -1 -1 -1 RERGL 53_non_coding 52,.,. 0.615385,.,. RERGL/non_coding/ 0.0002 0.7890 1.2540 7 dominant HG002 HG002 chr12:18134155:T:G 1,.,. -1 -1 -1 -1 -1 -1 RERGL 53_non_coding 53,.,. 0.603774,.,. RERGL/non_coding/ 0.0002 0.7890 1.2540 7 recessive HG002 HG002 chr12:18224196:CTACTAAGAGTTCTAAGA:C 2,.,. -1 -1 -1 -1 -1 -1 RERGL 53_non_coding 42,.,. 1,.,. RERGL/non_coding/ 0.0002 0.7890 1.2540 7 recessive HG002 HG002 chr12:18224217:C:G 2,.,. -1 -1 -1 -1 -1 -1 RERGL 53_non_coding 42,.,. 1,.,. RERGL/non_coding/ 0.0002 0.7890 1.2540 7 dominant HG002 HG002 chr12:18395035:G:C 1,.,. -1 -1 -1 -1 -1 -1 PIK3C2G 50_intron 37,.,. 0.432432,.,. PIK3C2G/intron/ 0.0000 0.9745 1.2330 6 dominant HG002 HG002 chr12:19070770:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr12:19141776:ACTGTGGTGG:A 1,.,. -1 -1 -1 -1 -1 -1 PLEKHA5 50_intron 44,.,. 0.545455,.,. PLEKHA5/intron/;PLEKHA5/non_coding/ 1.0000 0.2318 0.3690 0 dominant HG002 HG002 chr12:19141786:A:G 1,.,. -1 -1 -1 -1 -1 -1 PLEKHA5 50_intron 43,.,. 0.55814,.,. PLEKHA5/intron/;PLEKHA5/non_coding/ 1.0000 0.2318 0.3690 0 dominant HG002 HG002 chr12:19269394:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 PLEKHA5 50_intron 36,.,. 0.527778,.,. PLEKHA5/intron/;PLEKHA5/non_coding/ 1.0000 0.2318 0.3690 0 dominant HG002 HG002 chr12:19565580:C:T 1,.,. -1 -1 -1 -1 -1 -1 AEBP2 50_intron 34,.,. 0.411765,.,. AEBP2/intron/ 0.9868 0.2013 0.4610 1 dominant HG002 HG002 chr12:19878978:GCTTCCAGGAT:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr12:19878990:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. recessive HG002 HG002 chr12:19896746:C:T 2,.,. 0.000770967 0 69 -1 -1 -1 55,.,. 1,.,. dominant HG002 HG002 chr12:20025641:GTAGCTC:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr12:20025648:C:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr12:20185384:G:A 1,.,. 6.61559e-06 0 1 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr12:20311665:G:A 1,.,. 1.32876e-05 0 2 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr12:20649953:TATATATGCC:T 1,.,. -1 -1 -1 -1 -1 -1 PDE3A 50_intron 27,.,. 0.481481,.,. PDE3A/intron/;PDE3A/non_coding/ 0.0000 0.5594 0.7630 3 Brachydactyly-arterial hypertension syndrome 0.000 dominant HG002 HG002 chr12:20649963:A:T 1,.,. -1 -1 -1 -1 -1 -1 PDE3A 50_intron 28,.,. 0.464286,.,. PDE3A/intron/;PDE3A/non_coding/ 0.0000 0.5594 0.7630 3 Brachydactyly-arterial hypertension syndrome 0.000 recessive HG002 HG002 chr12:20679910:A:T 2,.,. -1 -1 -1 -1 -1 -1 PDE3A 50_intron 28,.,. 1,.,. PDE3A/intron/;PDE3A/non_coding/ 0.0000 0.5594 0.7630 3 Brachydactyly-arterial hypertension syndrome 0.000 dominant HG002 HG002 chr12:20896211:T:TC 1,.,. -1 -1 -1 -1 -1 -1 SLCO1B3 50_intron 51,.,. 0.45098,.,. SLCO1B3/intron/ 0.0000 0.8346 1.1510 6 Rotor syndrome 0.000 dominant HG002 HG002 chr12:20896212:T:C 1,.,. -1 -1 -1 -1 -1 -1 SLCO1B3 50_intron 51,.,. 0.45098,.,. SLCO1B3/intron/ 0.0000 0.8346 1.1510 6 Rotor syndrome 0.000 dominant HG002 HG002 chr12:20896214:CAAAT:C 1,.,. -1 -1 -1 -1 -1 -1 SLCO1B3 50_intron 51,.,. 0.45098,.,. SLCO1B3/intron/ 0.0000 0.8346 1.1510 6 Rotor syndrome 0.000 dominant HG002 HG002 chr12:20896219:T:C 1,.,. -1 -1 -1 -1 -1 -1 SLCO1B3 50_intron 52,.,. 0.461538,.,. SLCO1B3/intron/ 0.0000 0.8346 1.1510 6 Rotor syndrome 0.000 dominant HG002 HG002 chr12:20896221:C:T 1,.,. -1 -1 -1 -1 -1 -1 SLCO1B3 50_intron 51,.,. 0.45098,.,. SLCO1B3/intron/ 0.0000 0.8346 1.1510 6 Rotor syndrome 0.000 dominant HG002 HG002 chr12:21363918:C:T 1,.,. 1.31705e-05 0 2 -1 -1 -1 SLCO1A2 50_intron 41,.,. 0.634146,.,. SLCO1A2/intron/;SLCO1A2/non_coding/ 0.0000 0.8929 1.2390 7 recessive HG002 HG002 chr12:21647790:GGGTTCA:G 2,.,. -1 -1 -1 -1 -1 -1 AC010197.2;LDHB 50_intron 38,.,. 1,.,. AC010197.2/intron/;LDHB/intron/;LDHB/non_coding/ 0.0039 0.5832 0.9270 4 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 0.000 recessive HG002 HG002 chr12:21647797:A:T 2,.,. -1 -1 -1 -1 -1 -1 AC010197.2;LDHB 50_intron 39,.,. 1,.,. AC010197.2/intron/;LDHB/intron/;LDHB/non_coding/ 0.0039 0.5832 0.9270 4 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 0.000 recessive HG002 HG002 chr12:21896104:T:A 2,.,. -1 -1 -1 -1 -1 -1 ABCC9 50_intron 36,.,. 1,.,. ABCC9/intron/ 0.0000 0.4611 0.5570 1 Dilated cardiomyopathy 1O;Intellectual disability and myopathy syndrome;Atrial fibrillation, familial, 12;Hypertrichotic osteochondrodysplasia Cantu type;Primary dilated cardiomyopathy 0.000 dominant HG002 HG002 chr12:22032226:T:TTATATA 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr12:22584845:C:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr12:23512751:G:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.375,.,. recessive HG002 HG002 chr12:24288936:A:ATGTCTTC 2,.,. -1 -1 -1 -1 -1 -1 SOX5 50_intron 43,.,. 1,.,. SOX5/intron/;SOX5/non_coding/ 1.0000 0.1130 0.2040 0 Lamb-Shaffer syndrome 0.000 dominant HG002 HG002 chr12:24446271:G:C 1,.,. -1 -1 -1 -1 -1 -1 SOX5 50_intron 46,.,. 0.456522,.,. SOX5/intron/;SOX5/non_coding/ 1.0000 0.1130 0.2040 0 Lamb-Shaffer syndrome 0.000 dominant HG002 HG002 chr12:24483693:T:G 1,.,. -1 -1 -1 -1 -1 -1 SOX5 50_intron 46,.,. 0.608696,.,. SOX5/intron/;SOX5/non_coding/ 1.0000 0.1130 0.2040 0 Lamb-Shaffer syndrome 0.000 dominant HG002 HG002 chr12:24540308:C:A 1,.,. -1 -1 -1 -1 -1 -1 SOX5 50_intron 52,.,. 0.461538,.,. SOX5/intron/;SOX5/non_coding/ 1.0000 0.1130 0.2040 0 Lamb-Shaffer syndrome 0.000 dominant HG002 HG002 chr12:24586294:GAGATATAGATA:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr12:24586306:G:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr12:24586307:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr12:24825139:A:G 1,.,. -1 -1 -1 0.00140154 0 4 BCAT1 50_intron 37,.,. 0.540541,.,. BCAT1/intron/;BCAT1/non_coding/ 0.0000 0.9531 1.2190 6 dominant HG002 HG002 chr12:24836819:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 BCAT1 50_intron 33,.,. 0.515152,.,. BCAT1/intron/;BCAT1/non_coding/ 0.0000 0.9531 1.2190 6 dominant HG002 HG002 chr12:26122291:G:GGCGGCGGCA 1,.,. 6.74473e-06 0 1 -1 -1 -1 BHLHE41 12_inframe_insertion 25,.,. 0.4,.,. BHLHE41/inframe_insertion/ENST00000242728 0.0001 0.7914 1.2190 6 Short sleep, familial natural, 1 dominant HG002 HG002 chr12:26201024:T:TATAAAATATATATATATAAATAATATATATATATATA 1,.,. -1 -1 -1 0.00105116 0 3 SSPN 50_intron 46,.,. 0.217391,.,. SSPN/intron/;SSPN/non_coding/ 0.0000 1.0072 1.5650 8 dominant HG002 HG002 chr12:26201525:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 SSPN 50_intron 47,.,. 0.319149,.,. SSPN/intron/;SSPN/non_coding/ 0.0000 1.0072 1.5650 8 dominant HG002 HG002 chr12:26201526:C:A 1,.,. -1 -1 -1 -1 -1 -1 SSPN 50_intron 46,.,. 0.326087,.,. SSPN/intron/;SSPN/non_coding/ 0.0000 1.0072 1.5650 8 dominant HG002 HG002 chr12:26204514:T:TTCTGATGCAAAGTA 1,.,. 8.53752e-05 0 2 -1 -1 -1 SSPN 50_intron 44,.,. 0.704545,.,. SSPN/intron/;SSPN/non_coding/ 0.0000 1.0072 1.5650 8 dominant HG002 HG002 chr12:26204527:G:A 1,.,. 1.31784e-05 0 2 -1 -1 -1 SSPN 50_intron 44,.,. 0.704545,.,. SSPN/intron/;SSPN/non_coding/ 0.0000 1.0072 1.5650 8 dominant HG002 HG002 chr12:26220922:T:G 1,.,. -1 -1 -1 -1 -1 -1 SSPN 50_intron 35,.,. 0.485714,.,. SSPN/intron/;SSPN/non_coding/ 0.0000 1.0072 1.5650 8 dominant HG002 HG002 chr12:26220923:T:A 1,.,. -1 -1 -1 -1 -1 -1 SSPN 50_intron 35,.,. 0.485714,.,. SSPN/intron/;SSPN/non_coding/ 0.0000 1.0072 1.5650 8 dominant HG002 HG002 chr12:26220924:T:C 1,.,. -1 -1 -1 -1 -1 -1 SSPN 50_intron 35,.,. 0.485714,.,. SSPN/intron/;SSPN/non_coding/ 0.0000 1.0072 1.5650 8 dominant HG002 HG002 chr12:26220925:C:T 1,.,. -1 -1 -1 -1 -1 -1 SSPN 50_intron 35,.,. 0.485714,.,. SSPN/intron/;SSPN/non_coding/ 0.0000 1.0072 1.5650 8 dominant HG002 HG002 chr12:26220926:T:A 1,.,. -1 -1 -1 -1 -1 -1 SSPN 50_intron 35,.,. 0.485714,.,. SSPN/intron/;SSPN/non_coding/ 0.0000 1.0072 1.5650 8 recessive HG002 HG002 chr12:26297724:A:AGTTGTTGG 2,.,. -1 -1 -1 -1 -1 -1 SSPN 53_non_coding 44,.,. 1,.,. SSPN/non_coding/ 0.0000 1.0072 1.5650 8 dominant HG002 HG002 chr12:26556560:T:TTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 ITPR2 50_intron 35,.,. 0.428571,.,. ITPR2/intron/ 0.0000 0.6281 0.7240 2 Isolated anhidrosis with normal sweat glands 0.000 dominant HG002 HG002 chr12:26784255:A:ATCTCCCTCTCCC 1,.,. -1 -1 -1 0.000700771 0 2 ITPR2 50_intron 24,.,. 0.375,.,. ITPR2/intron/ 0.0000 0.6281 0.7240 2 Isolated anhidrosis with normal sweat glands 0.000 dominant HG002 HG002 chr12:26828118:C:T 1,.,. 6.57376e-06 0 1 -1 -1 -1 ITPR2 50_intron 41,.,. 0.414634,.,. ITPR2/intron/ 0.0000 0.6281 0.7240 2 Isolated anhidrosis with normal sweat glands 0.000 dominant HG002 HG002 chr12:27774171:A:C 1,.,. -1 -1 -1 -1 -1 -1 MANSC4 50_intron 38,.,. 0.526316,.,. MANSC4/intron/ 0.0003 0.8731 1.4410 7 dominant HG002 HG002 chr12:28298736:A:AAAAAC 1,.,. -1 -1 -1 -1 -1 -1 CCDC91 50_intron 45,.,. 0.266667,.,. CCDC91/intron/;CCDC91/non_coding/ 0.0639 0.5494 1.0840 5 dominant HG002 HG002 chr12:28417640:TACAC:T 1,.,. 8.91679e-06 0 1 -1 -1 -1 CCDC91 50_intron 40,.,. 0.575,.,. CCDC91/intron/;CCDC91/non_coding/ 0.0639 0.5494 1.0840 5 recessive HG002 HG002 chr12:28443144:C:A 2,.,. 4.62162e-05 0 7 0.0024527 1 7 CCDC91 50_intron 30,.,. 1,.,. CCDC91/intron/;CCDC91/non_coding/ 0.0639 0.5494 1.0840 5 dominant HG002 HG002 chr12:28650403:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr12:28650404:G:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr12:28825886:GA:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr12:28998184:T:C 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.48,.,. dominant HG002 HG002 chr12:29199613:A:AAAAG 1,.,. -1 -1 -1 -1 -1 -1 FAR2 50_intron 30,.,. 0.566667,.,. FAR2/intron/;FAR2/non_coding/ 0.9619 0.3353 0.5160 1 dominant HG002 HG002 chr12:29459674:ATG:A 1,.,. -1 -1 -1 -1 -1 -1 OVCH1 50_intron 43,.,. 0.55814,.,. OVCH1/intron/ 0.0000 0.9990 1.1690 6 dominant HG002 HG002 chr12:29459679:T:G 1,.,. -1 -1 -1 -1 -1 -1 OVCH1 50_intron 43,.,. 0.55814,.,. OVCH1/intron/ 0.0000 0.9990 1.1690 6 recessive HG002 HG002 chr12:29548829:T:C 2,.,. 9.35086e-05 0 10 -1 -1 -1 TMTC1 50_intron 43,.,. 1,.,. TMTC1/intron/;TMTC1/non_coding/ 0.0000 0.6496 0.8050 3 dominant HG002 HG002 chr12:29643752:ATATT:A 1,.,. -1 -1 -1 0.000700771 0 2 TMTC1 50_intron 45,.,. 0.577778,.,. TMTC1/intron/;TMTC1/non_coding/ 0.0000 0.6496 0.8050 3 dominant HG002 HG002 chr12:29791804:CACA:C 1,.,. 6.578e-06 0 1 -1 -1 -1 40,.,. 0.6,.,. dominant HG002 HG002 chr12:29915437:TGGTGGGACC:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr12:29915447:G:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr12:29993306:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. recessive HG002 HG002 chr12:30158030:C:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:30158036:C:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:30158047:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:30158050:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:30158053:C:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:30158069:A:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:30158072:G:GCC 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:30158073:T:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:30158081:T:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:30158082:T:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:30158089:GT:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:30158095:C:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:30158101:G:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:30158102:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr12:30309120:A:AAAG 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.394737,.,. recessive HG002 HG002 chr12:30348810:A:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chr12:31082034:C:T 1,.,. -1 -1 -1 -1 -1 -1 DDX11 50_intron 31,.,. 0.419355,.,. DDX11/intron/;DDX11/non_coding/ 0.0000 0.6417 0.7810 3 Warsaw breakage syndrome 0.000 recessive HG002 HG002 chr12:31208624:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr12:31421548:TATAA:T 1,.,. -1 -1 -1 -1 -1 -1 DENND5B 50_intron 35,.,. 0.657143,.,. DENND5B/intron/ 1.0000 0.2637 0.3510 0 dominant HG002 HG002 chr12:31468818:CCAAA:C 1,.,. -1 -1 -1 -1 -1 -1 DENND5B 50_intron 44,.,. 0.363636,.,. DENND5B/intron/;DENND5B/non_coding/ 1.0000 0.2637 0.3510 0 dominant HG002 HG002 chr12:31634923:G:GCCTC 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr12:31634924:T:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr12:31734889:G:A 1,.,. 1.31409e-05 0 2 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr12:31860930:T:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.666667,.,. dominant HG002 HG002 chr12:31870352:CTTTTA:C 1,.,. 1.97582e-05 0 3 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr12:31874273:T:G 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.347826,.,. dominant HG002 HG002 chr12:31874274:T:G 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.347826,.,. dominant HG002 HG002 chr12:31893860:C:T 1,.,. 6.62243e-06 0 1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr12:31893861:A:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr12:31893862:C:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr12:31893863:T:C 1,.,. 3.88131e-05 0 4 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr12:31951854:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.6,.,. dominant HG002 HG002 chr12:31997977:C:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr12:32004598:A:G 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.478261,.,. dominant HG002 HG002 chr12:32048736:T:TCAACAACAACAACAA 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. recessive HG002 HG002 chr12:32438616:G:T 2,.,. 0.00133059 0 195 0.00350385 0 10 FGD4 50_intron 38,.,. 1,.,. FGD4/intron/;FGD4/non_coding/ 0.6033 0.3977 0.5180 1 Charcot-Marie-Tooth disease type 4H 0.000 dominant HG002 HG002 chr12:32667167:AG:A 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.428571,.,. dominant HG002 HG002 chr12:32668947:G:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.423077,.,. dominant HG002 HG002 chr12:32669556:C:CACAT 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.307692,.,. dominant HG002 HG002 chr12:32671850:C:T 1,.,. 1.3137e-05 0 2 -1 -1 -1 26,.,. 0.576923,.,. dominant HG002 HG002 chr12:32717640:A:T 1,.,. -1 -1 -1 -1 -1 -1 DNM1L 50_intron 44,.,. 0.431818,.,. DNM1L/intron/;DNM1L/non_coding/ 0.9242 0.3752 0.5060 1 Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1;Optic atrophy 5 0.000 dominant HG002 HG002 chr12:32809330:G:T 1,.,. 1.31434e-05 0 2 -1 -1 -1 PKP2 50_intron 41,.,. 0.634146,.,. PKP2/intron/;PKP2/non_coding/ 0.0000 0.8959 1.1050 6 Arrhythmogenic right ventricular dysplasia 9;Arrhythmogenic right ventricular cardiomyopathy 0.000 dominant HG002 HG002 chr12:32953381:T:G 1,.,. 2.64333e-05 0 4 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr12:33036727:A:AGGTCT 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.580645,.,. dominant HG002 HG002 chr12:33036728:T:C 1,.,. 2.6322e-05 0 4 -1 -1 -1 32,.,. 0.5625,.,. dominant HG002 HG002 chr12:33036732:C:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5625,.,. dominant HG002 HG002 chr12:33081698:GTACCA:G 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.388889,.,. dominant HG002 HG002 chr12:33081706:T:A 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.388889,.,. dominant HG002 HG002 chr12:33252788:C:T 1,.,. 6.57289e-06 0 1 -1 -1 -1 47,.,. 0.425532,.,. dominant HG002 HG002 chr12:33334673:AAAGACACAACATAC:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr12:33334688:C:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr12:33377628:T:C 1,.,. -1 -1 -1 -1 -1 -1 SYT10 50_intron 49,.,. 0.510204,.,. SYT10/intron/ 0.0000 0.6030 0.8140 3 dominant HG002 HG002 chr12:33377629:C:T 1,.,. -1 -1 -1 -1 -1 -1 SYT10 50_intron 49,.,. 0.55102,.,. SYT10/intron/ 0.0000 0.6030 0.8140 3 dominant HG002 HG002 chr12:33438941:G:A 1,.,. -1 -1 -1 -1 -1 -1 SYT10 50_intron 34,.,. 0.470588,.,. SYT10/intron/ 0.0000 0.6030 0.8140 3 dominant HG002 HG002 chr12:33514453:T:TTAC 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.5,.,. dominant HG002 HG002 chr12:33514454:A:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.5,.,. dominant HG002 HG002 chr12:33525298:A:G 1,.,. 6.57013e-06 0 1 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr12:33660308:A:G 1,.,. -1 -1 -1 0.00140154 0 4 58,.,. 0.5,.,. dominant HG002 HG002 chr12:33671856:A:ACTGAATT 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.62,.,. dominant HG002 HG002 chr12:33671857:G:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.632653,.,. dominant HG002 HG002 chr12:33794667:TATTA:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr12:33794673:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. recessive HG002 HG002 chr12:33882947:C:CACA 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr12:33882948:C:G 2,.,. -1 -1 -1 0.000700771 0 2 37,.,. 1,.,. dominant HG002 HG002 chr12:33899423:T:C 1,.,. 1.97197e-05 0 3 -1 -1 -1 39,.,. 0.666667,.,. dominant HG002 HG002 chr12:34224688:T:A 1,.,. 1.31479e-05 0 2 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr12:34252076:T:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr12:34364467:A:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr12:34384299:C:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr12:34397072:G:T 1,.,. 2.10311e-05 0 3 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr12:34479704:T:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr12:34719378:T:G 1,.,. -1 -1 -1 0.00105116 0 3 24,.,. 0.291667,.,. recessive HG002 HG002 chr12:34769600:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr12:34776148:G:C 2,.,. -1 -1 -1 0.00280308 4 8 11,.,. 1,.,. recessive HG002 HG002 chr12:34779122:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr12:34779514:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr12:34779545:T:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr12:34779581:T:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr12:34800934:C:T 2,.,. -1 -1 -1 0.00140154 2 4 13,.,. 1,.,. recessive HG002 HG002 chr12:35134617:A:G 2,.,. -1 -1 -1 -1 -1 -1 371,.,. 0.997305,.,. recessive HG002 HG002 chr12:35169566:AGC:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr12:35169569:A:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr12:35326354:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr12:35732944:T:G 2,.,. -1 -1 -1 0.00315347 1 9 9,.,. 1,.,. recessive HG002 HG002 chr12:35767763:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr12:36004365:G:A 2,.,. -1 -1 -1 0.00875964 1 25 115,.,. 1,.,. recessive HG002 HG002 chr12:36093085:A:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr12:36093086:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr12:36102626:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr12:36277705:A:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr12:36509193:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr12:36509197:A:C 2,.,. -1 -1 -1 0.00105116 1 3 8,.,. 1,.,. recessive HG002 HG002 chr12:36509210:A:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr12:36511118:C:T 2,.,. -1 -1 -1 0.00210231 3 6 6,.,. 1,.,. recessive HG002 HG002 chr12:36511326:G:C 2,.,. -1 -1 -1 0.0126139 1 36 6,.,. 1,.,. recessive HG002 HG002 chr12:36596561:G:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr12:36641076:G:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr12:36917627:G:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr12:37076967:G:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr12:37246473:G:A 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.277778,.,. dominant HG002 HG002 chr12:37246507:GT:G 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.277778,.,. recessive HG002 HG002 chr12:37255296:A:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr12:37255297:T:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr12:37255300:C:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chr12:37297725:T:C 1,.,. 6.65531e-06 0 1 -1 -1 -1 25,.,. 0.56,.,. dominant HG002 HG002 chr12:37297727:G:T 1,.,. 1.32996e-05 0 2 -1 -1 -1 25,.,. 0.56,.,. recessive HG002 HG002 chr12:37333429:T:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:37333430:C:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:37333435:C:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr12:37333437:G:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:37333516:A:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr12:37333525:T:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:37333530:G:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr12:37333545:A:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:37333548:A:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:37333549:G:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr12:37333552:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:37333555:C:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:37333574:A:AC 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr12:37333585:A:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr12:37333586:TCAAAAGAGAGTTTCAACTCTGTGAGCTGAATGAACACATCACAAAAAAGTTTCTGAGAATGCTTCTGTCTAGTTTTTATGTGAAGCTATTTCCTTTTCCACCGTAGGCCTAAAAGTGCTCAAAATGAACACTTGCAGATTACACAGAAAGAAAGTTTCAAATCTGCTCTATCAAAAGAAAGTTTCAACTCTGTGAGTTGAATGCACCCATCACAAAGAACATTCTGAGAATGCTTCGGTCTAGTTTTTATATGAAGATACCCGTTTCCAACGAATTCTTCAGGAGTTCCAAATATACACAAGCAGATTCCACAAAAGGAATGTTTCAATACTGCTCTATCAAAAGACAGGTCCAGCTCTGTTA:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr12:37333985:T:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr12:37333986:G:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr12:37333990:CTGTCTAG:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr12:37334002:T:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr12:37334005:ATGAAGATACCCATTTCCAATGAATTCCCCAAGAGTTCCAAATATCCACAAGCAGATTCCACAAAAGGTGTGTTTCAATACTGCTCTATCAAAAGACAGGTTCAACCCTGTTAGTTGAATGCACACATCTCAAAGAAGATCCTGGGAGTGCTTCTGTCTAGTTTTTGTGTGAAGATATTTCCTTTTCCACCACAGGCTTCAAAGCACTCCAAATGAACACTTGCAGATACTACAAAAAGACTGTTTCAAAACTGCTCTAGCAAAAGAAGCGTTTCACTCTGTGAGGTGAATGCACACATCACAAAGCAGTTTCTGAGAATGCTTCTGTCTAGTTTTTATGTGTAGATATCCCCTTTACAACGAAAACCTCAAAGAGATCTAAATACCCACAAGCAGATTGTACAAAAGCAGTGTTTTGAAACTGCTCTATCAAAAGAAAGGTTCAACTCTGTGAATTGAATGCACACATCACAAAATGTTTCTGAAAATGCTTCTGTCTTGTTTTCATGTGAAGATATTTCTTTTCCACCATAGGCCTCAAAGCGCTCCAAATGAACACTTGCAGGTTATACAGAAAGAATGTTTCAATGCTGTGCTATAAAAAGAAAGGTTCAACTCTGT:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr12:37334636:C:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr12:37334728:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr12:37339319:C:T 1,.,. 1.99248e-05 0 3 -1 -1 -1 53,.,. 0.396226,.,. dominant HG002 HG002 chr12:37393820:A:C 1,.,. 1.9906e-05 0 3 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr12:37433023:A:G 1,.,. 1.31409e-05 0 2 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr12:37438331:G:C 1,.,. 1.97187e-05 0 3 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr12:37508774:C:A 1,.,. 1.31797e-05 0 2 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr12:37519013:A:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr12:37628875:G:T 1,.,. 1.33536e-05 0 2 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr12:37653269:T:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chr12:37717374:A:G 1,.,. 2.64194e-05 0 4 -1 -1 -1 26,.,. 0.384615,.,. dominant HG002 HG002 chr12:37974379:G:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.65625,.,. dominant HG002 HG002 chr12:38175021:A:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr12:38234581:C:T 1,.,. 1.97254e-05 0 3 -1 -1 -1 42,.,. 0.5,.,. recessive HG002 HG002 chr12:38326497:A:T 2,.,. -1 -1 -1 -1 -1 -1 ALG10B 36_3_prime_utr 31,.,. 1,.,. ALG10B/3_prime_utr/ENST00000308742 0.0000 0.7380 1.0180 5 Long QT syndrome 2 0.000 recessive HG002 HG002 chr12:38365164:A:C 2,.,. 6.59796e-06 0 1 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr12:38538884:G:GGCCATATAA 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr12:38538885:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr12:38769648:C:T 1,.,. 1.31556e-05 0 2 -1 -1 -1 CPNE8 50_intron 38,.,. 0.473684,.,. CPNE8/intron/ 0.0045 0.5951 0.9640 4 dominant HG002 HG002 chr12:38769780:C:T 1,.,. 1.31499e-05 0 2 -1 -1 -1 CPNE8 50_intron 36,.,. 0.472222,.,. CPNE8/intron/ 0.0045 0.5951 0.9640 4 dominant HG002 HG002 chr12:38800757:GA:G 1,.,. -1 -1 -1 -1 -1 -1 CPNE8 50_intron 38,.,. 0.552632,.,. CPNE8/intron/ 0.0045 0.5951 0.9640 4 dominant HG002 HG002 chr12:38965835:G:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.589744,.,. dominant HG002 HG002 chr12:39330764:G:T 1,.,. 6.57117e-06 0 1 -1 -1 -1 KIF21A 14_missense 38,.,. 0.605263,.,. KIF21A/missense/ENST00000361418;KIF21A/missense/ENST00000636569;KIF21A/missense/ENST00000361961;KIF21A/missense/ENST00000551264;KIF21A/missense/ENST00000552961;KIF21A/missense/ENST00000544797;KIF21A/missense/ENST00000541463;KIF21A/missense&NMD_transcript/ENST00000547108;KIF21A/missense/ENST00000551066 0.0000 0.4999 0.6070 2 Congenital fibrosis of extraocular muscles type 1 0.000 dominant HG002 HG002 chr12:39395889:C:T 1,.,. 6.6469e-06 0 1 -1 -1 -1 KIF21A 50_intron 46,.,. 0.521739,.,. KIF21A/intron/ 0.0000 0.4999 0.6070 2 Congenital fibrosis of extraocular muscles type 1 0.000 dominant HG002 HG002 chr12:39603854:G:C 1,.,. 6.58094e-06 0 1 -1 -1 -1 ABCD2 50_intron 45,.,. 0.644444,.,. ABCD2/intron/ 0.0001 0.5287 0.7140 2 dominant HG002 HG002 chr12:39607395:A:C 1,.,. -1 -1 -1 -1 -1 -1 ABCD2 50_intron 41,.,. 0.365854,.,. ABCD2/intron/ 0.0001 0.5287 0.7140 2 dominant HG002 HG002 chr12:39701111:TAAATG:T 1,.,. -1 -1 -1 -1 -1 -1 C12orf40 50_intron 45,.,. 0.533333,.,. C12orf40/intron/ 0.0000 0.8538 1.2190 6 dominant HG002 HG002 chr12:39701117:C:T 1,.,. -1 -1 -1 -1 -1 -1 C12orf40 50_intron 47,.,. 0.510638,.,. C12orf40/intron/ 0.0000 0.8538 1.2190 6 dominant HG002 HG002 chr12:40633683:G:GTGTGTA 1,.,. 1.96672e-05 0 1 -1 -1 -1 41,.,. 0.292683,.,. dominant HG002 HG002 chr12:40793327:A:G 1,.,. 2.63044e-05 0 4 -1 -1 -1 CNTN1 50_intron 45,.,. 0.488889,.,. CNTN1/intron/ 0.9999 0.3178 0.4310 1 Compton-North congenital myopathy 0.000 dominant HG002 HG002 chr12:40887534:G:C 1,.,. 6.57765e-06 0 1 -1 -1 -1 CNTN1 50_intron 40,.,. 0.4,.,. CNTN1/intron/ 0.9999 0.3178 0.4310 1 Compton-North congenital myopathy 0.000 dominant HG002 HG002 chr12:40912218:TCTTA:T 1,.,. -1 -1 -1 -1 -1 -1 CNTN1 50_intron 43,.,. 0.511628,.,. CNTN1/intron/ 0.9999 0.3178 0.4310 1 Compton-North congenital myopathy 0.000 dominant HG002 HG002 chr12:40964517:TGTAAGTGA:T 1,.,. -1 -1 -1 -1 -1 -1 CNTN1 50_intron 48,.,. 0.479167,.,. CNTN1/intron/ 0.9999 0.3178 0.4310 1 Compton-North congenital myopathy 0.000 dominant HG002 HG002 chr12:40964529:T:A 1,.,. 1.46045e-05 0 2 -1 -1 -1 CNTN1 50_intron 49,.,. 0.469388,.,. CNTN1/intron/ 0.9999 0.3178 0.4310 1 Compton-North congenital myopathy 0.000 dominant HG002 HG002 chr12:40977781:G:T 1,.,. -1 -1 -1 -1 -1 -1 CNTN1 50_intron 42,.,. 0.452381,.,. CNTN1/intron/ 0.9999 0.3178 0.4310 1 Compton-North congenital myopathy 0.000 dominant HG002 HG002 chr12:40977786:G:T 1,.,. 5.30748e-05 0 3 -1 -1 -1 CNTN1 50_intron 46,.,. 0.434783,.,. CNTN1/intron/ 0.9999 0.3178 0.4310 1 Compton-North congenital myopathy 0.000 recessive HG002 HG002 chr12:41383969:ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT:A 2,.,. -1 -1 -1 0.0161177 2 46 PDZRN4 50_intron 34,.,. 1,.,. PDZRN4/intron/ 0.0000 0.7063 0.8940 4 recessive HG002 HG002 chr12:41402222:A:G 2,.,. -1 -1 -1 0.00700771 0 20 PDZRN4 50_intron 42,.,. 1,.,. PDZRN4/intron/ 0.0000 0.7063 0.8940 4 dominant HG002 HG002 chr12:41477533:C:A 1,.,. -1 -1 -1 -1 -1 -1 PDZRN4 50_intron 44,.,. 0.522727,.,. PDZRN4/intron/ 0.0000 0.7063 0.8940 4 dominant HG002 HG002 chr12:41503341:T:A 1,.,. 6.57393e-06 0 1 -1 -1 -1 PDZRN4 50_intron 39,.,. 0.333333,.,. PDZRN4/intron/ 0.0000 0.7063 0.8940 4 recessive HG002 HG002 chr12:41671198:C:T 2,.,. -1 -1 -1 0.0210231 0 60 44,.,. 1,.,. recessive HG002 HG002 chr12:41671202:C:T 2,.,. -1 -1 -1 0.0206727 0 59 44,.,. 1,.,. recessive HG002 HG002 chr12:41673495:C:A 2,.,. -1 -1 -1 0.0210231 0 60 41,.,. 1,.,. recessive HG002 HG002 chr12:41744310:C:T 2,.,. -1 -1 -1 0.00875964 1 25 48,.,. 1,.,. dominant HG002 HG002 chr12:41978646:A:C 1,.,. 1.31409e-05 0 2 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr12:42108940:TG:T 1,.,. 6.5767e-06 0 1 -1 -1 -1 GXYLT1 50_intron 54,.,. 0.537037,.,. GXYLT1/intron/ 0.0004 0.6334 0.9620 4 dominant HG002 HG002 chr12:42604280:C:T 1,.,. 2.62764e-05 0 4 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr12:42907597:A:G 1,.,. 2.62954e-05 0 4 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr12:42943674:T:C 1,.,. 2.64592e-05 0 4 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr12:43018077:T:C 1,.,. 1.31415e-05 0 2 -1 -1 -1 42,.,. 0.619048,.,. dominant HG002 HG002 chr12:43196951:A:T 1,.,. 1.97047e-05 0 3 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr12:43381699:T:C 1,.,. 1.38895e-05 0 2 -1 -1 -1 ADAMTS20 50_intron 47,.,. 0.553191,.,. ADAMTS20/intron/ 0.0000 0.8373 0.9470 4 dominant HG002 HG002 chr12:43471122:G:T 1,.,. 1.31527e-05 0 2 -1 -1 -1 ADAMTS20 50_intron 43,.,. 0.44186,.,. ADAMTS20/intron/ 0.0000 0.8373 0.9470 4 dominant HG002 HG002 chr12:43471126:C:T 1,.,. 1.31498e-05 0 2 -1 -1 -1 ADAMTS20 50_intron 43,.,. 0.44186,.,. ADAMTS20/intron/ 0.0000 0.8373 0.9470 4 dominant HG002 HG002 chr12:43471127:A:G 1,.,. 1.97291e-05 0 3 -1 -1 -1 ADAMTS20 50_intron 43,.,. 0.44186,.,. ADAMTS20/intron/ 0.0000 0.8373 0.9470 4 dominant HG002 HG002 chr12:43476455:G:A 1,.,. -1 -1 -1 0.000700771 0 2 ADAMTS20 50_intron 54,.,. 0.574074,.,. ADAMTS20/intron/ 0.0000 0.8373 0.9470 4 dominant HG002 HG002 chr12:43688158:C:A 1,.,. 9.47149e-06 0 1 0.000700771 0 2 42,.,. 0.52381,.,. dominant HG002 HG002 chr12:43688160:GAAAGACACAC:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr12:43696440:TGAAA:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr12:43696446:T:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr12:43696448:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr12:43696449:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr12:43696450:CGAT:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr12:43696454:A:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr12:43772295:T:C 1,.,. 6.56918e-06 0 1 -1 -1 -1 IRAK4 30_synonymous 51,.,. 0.509804,.,. IRAK4/synonymous/ENST00000613694;IRAK4/synonymous/ENST00000551736;IRAK4/synonymous/ENST00000448290;IRAK4/synonymous/ENST00000440781;IRAK4/synonymous/ENST00000431837;IRAK4/3_prime_utr&NMD_transcript/ENST00000550386;IRAK4/3_prime_utr&NMD_transcript/ENST00000547101;IRAK4/3_prime_utr&NMD_transcript/ENST00000550615;IRAK4/3_prime_utr&NMD_transcript/ENST00000547521;IRAK4/3_prime_utr&NMD_transcript/ENST00000552309;IRAK4/3_prime_utr&NMD_transcript/ENST00000550361 0.0000 0.8521 1.1750 6 Immunodeficiency 67 0.000 dominant HG002 HG002 chr12:44047549:G:A 1,.,. -1 -1 -1 -1 -1 -1 TMEM117 50_intron 42,.,. 0.452381,.,. TMEM117/intron/ 0.0271 0.4610 0.6700 2 dominant HG002 HG002 chr12:44056145:C:T 1,.,. 6.57834e-06 0 1 -1 -1 -1 TMEM117 50_intron 35,.,. 0.514286,.,. TMEM117/intron/ 0.0271 0.4610 0.6700 2 dominant HG002 HG002 chr12:44109826:T:A 1,.,. -1 -1 -1 -1 -1 -1 TMEM117 50_intron 40,.,. 0.5,.,. TMEM117/intron/;TMEM117/non_coding/ 0.0271 0.4610 0.6700 2 dominant HG002 HG002 chr12:44153262:C:T 1,.,. 6.58016e-06 0 1 -1 -1 -1 TMEM117 50_intron 49,.,. 0.55102,.,. TMEM117/intron/;TMEM117/non_coding/ 0.0271 0.4610 0.6700 2 dominant HG002 HG002 chr12:44258339:A:G 1,.,. 6.57298e-06 0 1 -1 -1 -1 TMEM117 50_intron 47,.,. 0.595745,.,. TMEM117/intron/;TMEM117/non_coding/ 0.0271 0.4610 0.6700 2 dominant HG002 HG002 chr12:44379556:C:A 1,.,. -1 -1 -1 -1 -1 -1 TMEM117 50_intron 44,.,. 0.454545,.,. TMEM117/intron/;TMEM117/non_coding/ 0.0271 0.4610 0.6700 2 dominant HG002 HG002 chr12:44483458:A:T 1,.,. 1.31399e-05 0 2 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr12:44613783:T:C 1,.,. -1 -1 -1 -1 -1 -1 NELL2 50_intron 48,.,. 0.375,.,. NELL2/intron/;NELL2/non_coding/ 0.9574 0.3736 0.4950 1 dominant HG002 HG002 chr12:44924057:G:C 1,.,. 1.31404e-05 0 2 -1 -1 -1 43,.,. 0.55814,.,. dominant HG002 HG002 chr12:44954472:T:G 1,.,. -1 -1 -1 0.00140154 0 4 46,.,. 0.5,.,. dominant HG002 HG002 chr12:45039722:T:C 1,.,. 1.31761e-05 0 2 -1 -1 -1 DBX2 50_intron 38,.,. 0.605263,.,. DBX2/intron/ 0.0000 1.0685 1.6100 8 dominant HG002 HG002 chr12:45053027:A:G 1,.,. 1.31427e-05 0 2 -1 -1 -1 40,.,. 0.725,.,. dominant HG002 HG002 chr12:45207724:C:G 1,.,. 1.31467e-05 0 2 -1 -1 -1 PLEKHA8P1 53_non_coding 41,.,. 0.365854,.,. PLEKHA8P1/non_coding/ dominant HG002 HG002 chr12:45482614:C:A 1,.,. 1.33853e-05 0 2 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr12:45532717:T:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr12:45539186:A:G 1,.,. 1.31434e-05 0 2 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr12:45699580:G:GAAAC 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr12:45801332:A:AAG 1,.,. 8.93559e-06 0 1 -1 -1 -1 ARID2 50_intron 48,.,. 0.458333,.,. ARID2/intron/ 1.0000 0.1645 0.2240 0 Coffin-Siris syndrome 6 0.000 dominant HG002 HG002 chr12:45801333:G:T 1,.,. -1 -1 -1 -1 -1 -1 ARID2 50_intron 45,.,. 0.511111,.,. ARID2/intron/ 1.0000 0.1645 0.2240 0 Coffin-Siris syndrome 6 0.000 dominant HG002 HG002 chr12:46199333:G:T 1,.,. -1 -1 -1 -1 -1 -1 SLC38A1 50_intron 37,.,. 0.378378,.,. SLC38A1/intron/;SLC38A1/non_coding/ 0.9677 0.2871 0.5180 1 recessive HG002 HG002 chr12:46441197:C:CTCCTTCCTTCCT 2,.,. -1 -1 -1 0.0126139 2 36 31,.,. 1,.,. dominant HG002 HG002 chr12:46620172:A:C 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.425926,.,. recessive HG002 HG002 chr12:46739147:G:GGCTA 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr12:46739150:A:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr12:47089457:A:AAATACAT 1,.,. -1 -1 -1 -1 -1 -1 PCED1B 50_intron 41,.,. 0.365854,.,. PCED1B/intron/ 0.1209 2.2993 1.9310 9 dominant HG002 HG002 chr12:47217399:AAC:A 1,.,. 3.0067e-05 0 2 -1 -1 -1 PCED1B 50_intron 26,.,. 0.461538,.,. PCED1B/intron/ 0.1209 2.2993 1.9310 9 dominant HG002 HG002 chr12:47348349:CACAT:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. recessive HG002 HG002 chr12:47634581:CAT:C 2,.,. 0.00373458 0 215 0.00665732 3 19 40,.,. 1,.,. dominant HG002 HG002 chr12:47916003:C:A 1,.,. -1 -1 -1 -1 -1 -1 VDR 50_intron 36,.,. 0.388889,.,. VDR/intron/ 0.0109 0.4864 0.7140 2 Vitamin D-dependent rickets type II with alopecia 0.000 recessive HG002 HG002 chr12:48229942:T:A 2,.,. 0.00334294 1 218 0.00175193 1 5 40,.,. 1,.,. recessive HG002 HG002 chr12:48316917:A:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chr12:48403584:G:A 1,.,. 1.9735e-05 0 3 -1 -1 -1 56,.,. 0.446429,.,. dominant HG002 HG002 chr12:48480365:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr12:49069570:T:C 1,.,. 2.11972e-05 0 1 -1 -1 -1 RHEBL1 50_intron 34,.,. 0.529412,.,. RHEBL1/intron/ 0.0000 0.7708 1.0920 5 dominant HG002 HG002 chr12:49069571:C:T 1,.,. -1 -1 -1 -1 -1 -1 RHEBL1 50_intron 34,.,. 0.529412,.,. RHEBL1/intron/ 0.0000 0.7708 1.0920 5 dominant HG002 HG002 chr12:49069573:TCCAATCCTCCACTCTTCC:T 1,.,. 6.599e-06 0 1 -1 -1 -1 RHEBL1 50_intron 34,.,. 0.529412,.,. RHEBL1/intron/ 0.0000 0.7708 1.0920 5 dominant HG002 HG002 chr12:49135168:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr12:49532143:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.394737,.,. recessive HG002 HG002 chr12:49859095:G:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr12:50575686:CTTTATTG:C 1,.,. 1.31704e-05 0 2 -1 -1 -1 DIP2B 50_intron 35,.,. 0.4,.,. DIP2B/intron/;DIP2B/non_coding/ 0.9998 0.3698 0.4480 1 Intellectual disability, FRA12A type 0.000 dominant HG002 HG002 chr12:50740079:C:T 1,.,. 6.56978e-06 0 1 -1 -1 -1 DIP2B 50_intron 32,.,. 0.34375,.,. DIP2B/intron/ 0.9998 0.3698 0.4480 1 Intellectual disability, FRA12A type 0.000 dominant HG002 HG002 chr12:50807814:T:G 1,.,. 1.83769e-05 0 1 -1 -1 -1 ATF1 50_intron 37,.,. 0.567568,.,. ATF1/intron/ 0.0970 0.4439 0.6830 2 dominant HG002 HG002 chr12:51081844:AAC:A 1,.,. -1 -1 -1 0.00105116 0 3 CSRNP2 50_intron 42,.,. 0.333333,.,. CSRNP2/intron/;CSRNP2/non_coding/ 0.9955 0.2876 0.4660 1 dominant HG002 HG002 chr12:51176609:T:TATTC 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr12:51201544:A:AAAC 1,.,. -1 -1 -1 -1 -1 -1 POU6F1 50_intron 34,.,. 0.5,.,. POU6F1/intron/;POU6F1/non_coding/ 0.9531 0.2953 0.5330 1 dominant HG002 HG002 chr12:51320934:A:AACACACACACACACAC 1,.,. -1 -1 -1 -1 -1 -1 BIN2 50_intron 23,.,. 0.434783,.,. BIN2/intron/;BIN2/non_coding/ 0.0000 0.5700 0.7660 3 dominant HG002 HG002 chr12:51447048:G:GTCTGTCTATCTA 1,.,. -1 -1 -1 -1 -1 -1 SLC4A8 50_intron 35,.,. 0.457143,.,. SLC4A8/intron/;SLC4A8/non_coding/ 0.9985 0.3422 0.4620 1 dominant HG002 HG002 chr12:51645957:A:AAAT 1,.,. -1 -1 -1 -1 -1 -1 SCN8A 50_intron 36,.,. 0.444444,.,. SCN8A/intron/;SCN8A/non_coding/ 1.0000 0.1311 0.1890 0 Cognitive impairment with or without cerebellar ataxia;Seizures, benign familial infantile, 5;Developmental and epileptic encephalopathy, 13;Myoclonus, familial, 2 0.000 dominant HG002 HG002 chr12:51931347:CACGT:C 1,.,. 0.000106157 0 3 -1 -1 -1 28,.,. 0.285714,.,. dominant HG002 HG002 chr12:52753467:C:T 1,.,. -1 -1 -1 -1 -1 -1 KRT127P 53_non_coding 32,.,. 0.40625,.,. KRT127P/non_coding/ dominant HG002 HG002 chr12:52903263:CTCATA:C 1,.,. -1 -1 -1 -1 -1 -1 KRT8 50_intron 26,.,. 0.5,.,. KRT8/intron/;KRT8/non_coding/ 0.0006 0.5490 0.7900 3 dominant HG002 HG002 chr12:52903269:T:A 1,.,. -1 -1 -1 -1 -1 -1 KRT8 50_intron 26,.,. 0.5,.,. KRT8/intron/;KRT8/non_coding/ 0.0006 0.5490 0.7900 3 dominant HG002 HG002 chr12:52904178:C:A 1,.,. -1 -1 -1 -1 -1 -1 KRT8 50_intron 25,.,. 0.48,.,. KRT8/intron/;KRT8/non_coding/ 0.0006 0.5490 0.7900 3 dominant HG002 HG002 chr12:52925577:G:T 1,.,. -1 -1 -1 -1 -1 -1 KRT8 50_intron 29,.,. 0.551724,.,. KRT8/intron/ 0.0006 0.5490 0.7900 3 dominant HG002 HG002 chr12:52926148:C:T 1,.,. -1 -1 -1 0.00105116 0 3 KRT8 50_intron 31,.,. 0.548387,.,. KRT8/intron/ 0.0006 0.5490 0.7900 3 recessive HG002 HG002 chr12:53030227:A:T 2,.,. 0.000506158 0 6 0.00175193 0 5 EIF4B 50_intron 24,.,. 1,.,. EIF4B/intron/ 1.0000 0.0936 0.1760 0 dominant HG002 HG002 chr12:53125538:T:TTTTA 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. recessive HG002 HG002 chr12:53279640:T:TTGGACC 2,.,. -1 -1 -1 -1 -1 -1 ESPL1 50_intron 34,.,. 1,.,. ESPL1/intron/ 1.0000 0.2304 0.2920 0 recessive HG002 HG002 chr12:53279641:A:C 2,.,. -1 -1 -1 -1 -1 -1 ESPL1 50_intron 34,.,. 1,.,. ESPL1/intron/ 1.0000 0.2304 0.2920 0 dominant HG002 HG002 chr12:53550327:A:AAAAT 1,.,. -1 -1 -1 -1 -1 -1 ATF7-NPFF 50_intron 40,.,. 0.475,.,. ATF7-NPFF/intron/ 0.8562 0.3636 0.5450 1 dominant HG002 HG002 chr12:53579883:C:T 1,.,. 1.97122e-05 0 3 -1 -1 -1 ATF7-NPFF 50_intron 30,.,. 0.566667,.,. ATF7-NPFF/intron/ 0.8562 0.3636 0.5450 1 recessive HG002 HG002 chr12:54090956:TTGCACTGGGG:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr12:54090967:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr12:54231109:T:G 2,.,. 0.00182597 4 278 0.00105116 0 3 CBX5 36_3_prime_utr 32,.,. 1,.,. CBX5/3_prime_utr/ENST00000209875 0.5178 0.3678 0.7260 2 recessive HG002 HG002 chr12:54263002:T:C 2,.,. 0.00171323 4 261 0.00140154 0 4 CBX5 50_intron 36,.,. 1,.,. CBX5/intron/ 0.5178 0.3678 0.7260 2 recessive HG002 HG002 chr12:54341457:A:G 2,.,. 0.000978911 4 149 0.00105116 0 3 COPZ1 50_intron 27,.,. 1,.,. COPZ1/intron/;COPZ1/non_coding/ 0.9911 0.1935 0.4430 1 recessive HG002 HG002 chr12:54361704:C:T 2,.,. 0.00170081 4 259 0.00175193 0 5 24,.,. 1,.,. dominant HG002 HG002 chr12:55323611:AT:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.576923,.,. dominant HG002 HG002 chr12:55598512:G:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.355556,.,. dominant HG002 HG002 chr12:56087155:T:A 1,.,. -1 -1 -1 -1 -1 -1 ERBB3 50_intron 36,.,. 0.444444,.,. ERBB3/intron/;ERBB3/non_coding/ 0.0000 0.5853 0.6950 2 Erythroleukemia, familial, susceptibility to;Visceral neuropathy, familial, 1, autosomal recessive;Lethal congenital contracture syndrome 2 0.000 dominant HG002 HG002 chr12:56087156:C:T 1,.,. -1 -1 -1 -1 -1 -1 ERBB3 50_intron 37,.,. 0.486486,.,. ERBB3/intron/;ERBB3/non_coding/ 0.0000 0.5853 0.6950 2 Erythroleukemia, familial, susceptibility to;Visceral neuropathy, familial, 1, autosomal recessive;Lethal congenital contracture syndrome 2 0.000 dominant HG002 HG002 chr12:56087159:T:C 1,.,. -1 -1 -1 -1 -1 -1 ERBB3 50_intron 35,.,. 0.514286,.,. ERBB3/intron/;ERBB3/non_coding/ 0.0000 0.5853 0.6950 2 Erythroleukemia, familial, susceptibility to;Visceral neuropathy, familial, 1, autosomal recessive;Lethal congenital contracture syndrome 2 0.000 dominant HG002 HG002 chr12:56169996:T:C 1,.,. -1 -1 -1 -1 -1 -1 SMARCC2 50_intron 24,.,. 0.416667,.,. SMARCC2/intron/ 1.0000 0.1029 0.1670 0 Coffin-Siris syndrome 8 0.000 dominant HG002 HG002 chr12:56614159:C:A 1,.,. 1.31461e-05 0 2 -1 -1 -1 BAZ2A 50_intron 36,.,. 0.555556,.,. BAZ2A/intron/;BAZ2A/non_coding/ 1.0000 0.1701 0.2260 0 dominant HG002 HG002 chr12:57223023:G:A 1,.,. 1.9721e-05 0 3 -1 -1 -1 NXPH4 50_intron 21,.,. 0.285714,.,. NXPH4/intron/;NXPH4/non_coding/ 0.0250 0.5775 1.0420 5 dominant HG002 HG002 chr12:57307320:G:T 1,.,. -1 -1 -1 -1 -1 -1 R3HDM2 50_intron 30,.,. 0.433333,.,. R3HDM2/intron/;R3HDM2/non_coding/ 1.0000 0.2871 0.3890 0 dominant HG002 HG002 chr12:58285546:C:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.510204,.,. dominant HG002 HG002 chr12:58852396:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr12:58852408:G:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr12:58852410:C:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr12:58852443:G:A 1,.,. 2.62909e-05 0 4 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr12:58852480:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr12:59332318:A:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.354839,.,. dominant HG002 HG002 chr12:59352336:G:A 1,.,. 1.97252e-05 0 3 -1 -1 -1 46,.,. 0.543478,.,. dominant HG002 HG002 chr12:59574267:AAGT:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr12:59574272:T:A 1,.,. -1 -1 -1 0.000700771 0 2 32,.,. 0.5,.,. recessive HG002 HG002 chr12:59832051:G:T 2,.,. 0.00136519 0 4 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr12:60107458:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr12:60818460:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr12:61180915:G:A 1,.,. 3.33522e-05 0 4 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr12:61762631:T:TTATA 1,.,. -1 -1 -1 -1 -1 -1 TAFA2 50_intron 39,.,. 0.25641,.,. TAFA2/intron/ 0.2892 0.4169 0.8230 3 dominant HG002 HG002 chr12:62147316:GTGTA:G 1,.,. -1 -1 -1 -1 -1 -1 TAFA2 50_intron 38,.,. 0.236842,.,. TAFA2/intron/;TAFA2/non_coding/ 0.2892 0.4169 0.8230 3 dominant HG002 HG002 chr12:62205441:T:G 1,.,. 2.62729e-05 0 4 -1 -1 -1 TAFA2 50_intron 39,.,. 0.538462,.,. TAFA2/intron/;TAFA2/non_coding/ 0.2892 0.4169 0.8230 3 dominant HG002 HG002 chr12:62707622:T:C 1,.,. 6.57151e-06 0 1 -1 -1 -1 PPM1H 50_intron 36,.,. 0.527778,.,. PPM1H/intron/;PPM1H/non_coding/ 0.0002 0.5694 0.8130 3 dominant HG002 HG002 chr12:62988583:CCTT:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr12:62988591:G:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr12:63265622:C:G 1,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.378788,.,. dominant HG002 HG002 chr12:63354759:ATAAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.296296,.,. dominant HG002 HG002 chr12:63354769:C:G 1,.,. 2.88839e-05 0 3 -1 -1 -1 27,.,. 0.333333,.,. dominant HG002 HG002 chr12:63463300:ATGCCC:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.538462,.,. dominant HG002 HG002 chr12:63463306:A:C 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.538462,.,. dominant HG002 HG002 chr12:63517579:TATATATA:T 1,.,. 5.55782e-05 1 3 -1 -1 -1 40,.,. 0.5,.,. recessive HG002 HG002 chr12:63556255:T:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr12:63556257:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr12:63556260:A:ATACACGTG 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr12:63556485:T:TATGTATAC 2,.,. -1 -1 -1 0.000700771 0 2 36,.,. 1,.,. dominant HG002 HG002 chr12:63795282:A:AAAG 1,.,. -1 -1 -1 -1 -1 -1 RXYLT1 50_intron 44,.,. 0.409091,.,. RXYLT1/intron/;RXYLT1/non_coding/ 0.0000 0.8404 1.0900 5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 0.000 dominant HG002 HG002 chr12:64418921:G:A 1,.,. 6.57756e-06 0 1 -1 -1 -1 XPOT 14_missense 45,.,. 0.488889,.,. XPOT/missense/ENST00000332707;XPOT/missense/ENST00000400935 1.0000 0.2354 0.3290 0 dominant HG002 HG002 chr12:64727367:CTGAGG:C 1,.,. -1 -1 -1 -1 -1 -1 GNS 50_intron 35,.,. 0.571429,.,. GNS/intron/;GNS/non_coding/ 0.0109 0.7983 1.5430 8 Mucopolysaccharidosis, MPS-III-D 0.000 dominant HG002 HG002 chr12:64727373:C:G 1,.,. -1 -1 -1 -1 -1 -1 GNS 50_intron 35,.,. 0.571429,.,. GNS/intron/;GNS/non_coding/ 0.0109 0.7983 1.5430 8 Mucopolysaccharidosis, MPS-III-D 0.000 dominant HG002 HG002 chr12:64830943:C:T 1,.,. -1 -1 -1 -1 -1 -1 TBC1D30;AC078815.1 50_intron 39,.,. 0.564103,.,. TBC1D30/intron/;AC078815.1/intron/ 0.0065 0.4706 0.6530 2 recessive HG002 HG002 chr12:65686927:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr12:66010724:AAGAGC:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr12:66010732:T:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr12:66010733:G:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. recessive HG002 HG002 chr12:66068561:T:A 2,.,. 0.00130634 0 4 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr12:66463195:AAAAT:A 1,.,. -1 -1 -1 0.00105116 0 3 GRIP1 50_intron 43,.,. 0.44186,.,. GRIP1/intron/ 1.0000 0.3058 0.4150 1 Fraser syndrome 3 0.000 dominant HG002 HG002 chr12:66463204:G:A 1,.,. -1 -1 -1 -1 -1 -1 GRIP1 50_intron 45,.,. 0.511111,.,. GRIP1/intron/ 1.0000 0.3058 0.4150 1 Fraser syndrome 3 0.000 dominant HG002 HG002 chr12:66585808:G:GA 1,.,. -1 -1 -1 -1 -1 -1 GRIP1 50_intron 28,.,. 0.5,.,. GRIP1/intron/ 1.0000 0.3058 0.4150 1 Fraser syndrome 3 0.000 dominant HG002 HG002 chr12:66598977:TGTA:T 1,.,. -1 -1 -1 -1 -1 -1 GRIP1 50_intron 33,.,. 0.484848,.,. GRIP1/intron/ 1.0000 0.3058 0.4150 1 Fraser syndrome 3 0.000 dominant HG002 HG002 chr12:66598981:C:A 1,.,. 7.22408e-06 0 1 -1 -1 -1 GRIP1 50_intron 33,.,. 0.484848,.,. GRIP1/intron/ 1.0000 0.3058 0.4150 1 Fraser syndrome 3 0.000 dominant HG002 HG002 chr12:66765140:T:C 1,.,. -1 -1 -1 -1 -1 -1 GRIP1 50_intron 46,.,. 0.565217,.,. GRIP1/intron/ 1.0000 0.3058 0.4150 1 Fraser syndrome 3 0.000 dominant HG002 HG002 chr12:66765141:T:A 1,.,. -1 -1 -1 -1 -1 -1 GRIP1 50_intron 46,.,. 0.565217,.,. GRIP1/intron/ 1.0000 0.3058 0.4150 1 Fraser syndrome 3 0.000 dominant HG002 HG002 chr12:66765143:G:T 1,.,. -1 -1 -1 -1 -1 -1 GRIP1 50_intron 46,.,. 0.565217,.,. GRIP1/intron/ 1.0000 0.3058 0.4150 1 Fraser syndrome 3 0.000 dominant HG002 HG002 chr12:66810601:G:T 1,.,. -1 -1 -1 -1 -1 -1 GRIP1 50_intron 48,.,. 0.645833,.,. GRIP1/intron/ 1.0000 0.3058 0.4150 1 Fraser syndrome 3 0.000 dominant HG002 HG002 chr12:67912378:A:AATATATATAT 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.32,.,. dominant HG002 HG002 chr12:67990393:A:G 1,.,. 2.62784e-05 0 4 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr12:68266665:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.228571,.,. dominant HG002 HG002 chr12:69375565:A:T 1,.,. -1 -1 -1 -1 -1 -1 YEATS4 50_intron 41,.,. 0.414634,.,. YEATS4/intron/ 0.0015 0.5781 0.8780 4 dominant HG002 HG002 chr12:70611460:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 PTPRB 50_intron 44,.,. 0.431818,.,. PTPRB/intron/;PTPRB/non_coding/ 0.9781 0.3908 0.4660 1 dominant HG002 HG002 chr12:70794624:T:A 1,.,. 6.57073e-06 0 1 -1 -1 -1 PTPRR 50_intron 49,.,. 0.612245,.,. PTPRR/intron/ 0.0062 0.4640 0.6330 2 recessive HG002 HG002 chr12:70922266:C:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr12:71399033:A:T 1,.,. 6.57004e-06 0 1 -1 -1 -1 TSPAN8 50_intron 38,.,. 0.473684,.,. TSPAN8/intron/ 0.0003 0.6150 0.9120 4 recessive HG002 HG002 chr12:71418633:C:G 2,.,. 1.3216e-05 0 2 -1 -1 -1 TSPAN8 50_intron 35,.,. 1,.,. TSPAN8/intron/ 0.0003 0.6150 0.9120 4 recessive HG002 HG002 chr12:71611454:G:GGT 2,.,. -1 -1 -1 -1 -1 -1 ZFC3H1 36_3_prime_utr 42,.,. 1,.,. ZFC3H1/3_prime_utr&NMD_transcript/ENST00000552994 1.0000 0.3001 0.3670 0 recessive HG002 HG002 chr12:71611455:T:A 2,.,. -1 -1 -1 -1 -1 -1 ZFC3H1 36_3_prime_utr 42,.,. 1,.,. ZFC3H1/3_prime_utr&NMD_transcript/ENST00000552994 1.0000 0.3001 0.3670 0 dominant HG002 HG002 chr12:71659463:GC:G 1,.,. 2.63244e-05 0 4 -1 -1 -1 ZFC3H1 50_intron 45,.,. 0.555556,.,. ZFC3H1/intron/;ZFC3H1/non_coding/ 1.0000 0.3001 0.3670 0 dominant HG002 HG002 chr12:71915473:A:G 1,.,. 6.60799e-06 0 1 -1 -1 -1 TBC1D15 50_intron 52,.,. 0.480769,.,. TBC1D15/intron/;TBC1D15/non_coding/ 0.0893 0.4357 0.6330 2 dominant HG002 HG002 chr12:72489048:A:G 1,.,. -1 -1 -1 -1 -1 -1 TRHDE 50_intron 54,.,. 0.537037,.,. TRHDE/intron/ 0.0000 0.6223 0.7960 3 dominant HG002 HG002 chr12:73433752:G:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr12:73433753:G:GAT 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr12:73433754:T:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr12:73710908:ACT:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr12:74244651:C:A 1,.,. 6.57272e-06 0 1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr12:74364679:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. recessive HG002 HG002 chr12:74635448:A:ATTC 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr12:74635450:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. dominant HG002 HG002 chr12:74858492:G:GT 1,.,. 1.32142e-05 0 2 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr12:75303379:A:C 1,.,. -1 -1 -1 -1 -1 -1 CAPS2 50_intron 36,.,. 0.5,.,. CAPS2/intron/;CAPS2/non_coding/ 0.0000 1.0746 1.4570 8 recessive HG002 HG002 chr12:75377862:C:T 2,.,. -1 -1 -1 0.00911002 0 26 CAPS2 50_intron 39,.,. 1,.,. CAPS2/intron/;CAPS2/non_coding/ 0.0000 1.0746 1.4570 8 recessive HG002 HG002 chr12:75377864:T:C 2,.,. 0.000840336 0 1 0.00210231 0 6 CAPS2 50_intron 38,.,. 1,.,. CAPS2/intron/;CAPS2/non_coding/ 0.0000 1.0746 1.4570 8 dominant HG002 HG002 chr12:76263722:G:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.510204,.,. recessive HG002 HG002 chr12:76337906:T:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr12:76337907:G:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr12:76337908:T:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chr12:76510893:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 OSBPL8 50_intron 40,.,. 0.55,.,. OSBPL8/intron/;OSBPL8/non_coding/ 0.0174 0.4446 0.5970 2 dominant HG002 HG002 chr12:76674740:TATATTA:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.689655,.,. recessive HG002 HG002 chr12:77035988:T:A 2,.,. -1 -1 -1 -1 -1 -1 E2F7 50_intron 45,.,. 1,.,. E2F7/intron/ 0.0189 0.4391 0.5800 1 dominant HG002 HG002 chr12:77167494:A:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.333333,.,. dominant HG002 HG002 chr12:77187850:A:G 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.5,.,. dominant HG002 HG002 chr12:77187851:G:T 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.5,.,. dominant HG002 HG002 chr12:77187852:C:T 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.5,.,. dominant HG002 HG002 chr12:77191535:A:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.54,.,. dominant HG002 HG002 chr12:77191536:G:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.54,.,. dominant HG002 HG002 chr12:77191537:A:G 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.54,.,. recessive HG002 HG002 chr12:77258362:C:G 2,.,. -1 -1 -1 0.00875964 3 25 33,.,. 1,.,. dominant HG002 HG002 chr12:77303527:G:A 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.428571,.,. dominant HG002 HG002 chr12:77626348:G:C 1,.,. 1.31513e-05 0 2 -1 -1 -1 NAV3 50_intron 50,.,. 0.3,.,. NAV3/intron/ 1.0000 0.3489 0.4260 1 NEURODEVELOPMENTAL DISORDER WITH POOR OR ABSENT SPEECH, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES dominant HG002 HG002 chr12:77831183:GAGAGAGAGAGAC:G 1,.,. 4.08305e-05 0 4 -1 -1 -1 NAV3 35_5_prime_utr 40,.,. 0.375,.,. NAV3/5_prime_utr/ENST00000397909;NAV3/5_prime_utr/ENST00000549464 1.0000 0.3489 0.4260 1 NEURODEVELOPMENTAL DISORDER WITH POOR OR ABSENT SPEECH, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES dominant HG002 HG002 chr12:77831203:G:C 1,.,. -1 -1 -1 -1 -1 -1 NAV3 35_5_prime_utr 39,.,. 0.410256,.,. NAV3/5_prime_utr/ENST00000397909;NAV3/5_prime_utr/ENST00000549464 1.0000 0.3489 0.4260 1 NEURODEVELOPMENTAL DISORDER WITH POOR OR ABSENT SPEECH, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES dominant HG002 HG002 chr12:79179179:T:TAG 1,.,. 4.58484e-05 0 2 0.00105116 0 3 SYT1 50_intron 51,.,. 0.45098,.,. SYT1/intron/;SYT1/non_coding/ 1.0000 0.1838 0.3320 0 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0.000 recessive HG002 HG002 chr12:79204820:G:T 2,.,. -1 -1 -1 -1 -1 -1 SYT1 50_intron 51,.,. 1,.,. SYT1/intron/;SYT1/non_coding/ 1.0000 0.1838 0.3320 0 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0.000 recessive HG002 HG002 chr12:79391970:T:TATAC 2,.,. -1 -1 -1 -1 -1 -1 SYT1 50_intron 40,.,. 1,.,. SYT1/intron/ 1.0000 0.1838 0.3320 0 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0.000 recessive HG002 HG002 chr12:79391971:T:C 2,.,. -1 -1 -1 -1 -1 -1 SYT1 50_intron 40,.,. 1,.,. SYT1/intron/ 1.0000 0.1838 0.3320 0 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0.000 recessive HG002 HG002 chr12:80031814:A:ACGATTTCCT 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr12:80031815:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr12:80031816:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr12:80031817:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr12:80275965:GCTTT:G 1,.,. -1 -1 -1 -1 -1 -1 OTOGL 50_intron 52,.,. 0.557692,.,. OTOGL/intron/ 0.0000 0.9510 1.0690 5 Autosomal recessive nonsyndromic hearing loss 84B 0.000 dominant HG002 HG002 chr12:80275970:A:T 1,.,. -1 -1 -1 -1 -1 -1 OTOGL 50_intron 52,.,. 0.557692,.,. OTOGL/intron/ 0.0000 0.9510 1.0690 5 Autosomal recessive nonsyndromic hearing loss 84B 0.000 dominant HG002 HG002 chr12:80295112:A:ACAC 1,.,. -1 -1 -1 -1 -1 -1 OTOGL 50_intron 30,.,. 0.333333,.,. OTOGL/intron/ 0.0000 0.9510 1.0690 5 Autosomal recessive nonsyndromic hearing loss 84B 0.000 dominant HG002 HG002 chr12:80380656:T:G 1,.,. -1 -1 -1 -1 -1 -1 OTOGL 36_3_prime_utr 43,.,. 0.395349,.,. OTOGL/3_prime_utr/ENST00000547103 0.0000 0.9510 1.0690 5 Autosomal recessive nonsyndromic hearing loss 84B 0.000 dominant HG002 HG002 chr12:80558106:CTTTCTTTTCTTTCTTTCT:C 1,.,. 9.8703e-06 0 1 -1 -1 -1 PTPRQ 50_intron 46,.,. 0.478261,.,. PTPRQ/intron/ 0.0000 0.8288 0.9410 4 Hearing loss, autosomal dominant 73;Autosomal recessive nonsyndromic hearing loss 84A 0.000 dominant HG002 HG002 chr12:81342901:T:C 1,.,. 1.31902e-05 0 2 0.00105116 0 3 PPFIA2 50_intron 50,.,. 0.46,.,. PPFIA2/intron/;PPFIA2/non_coding/ 1.0000 0.2683 0.3620 0 dominant HG002 HG002 chr12:82020182:TGTATAC:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr12:82030742:T:G 1,.,. 2.64285e-05 0 4 -1 -1 -1 52,.,. 0.5,.,. dominant HG002 HG002 chr12:82370938:A:G 1,.,. 2.62816e-05 0 4 -1 -1 -1 METTL25 50_intron 29,.,. 0.344828,.,. METTL25/non_coding/;METTL25/intron/ 0.0000 0.8086 1.1090 6 dominant HG002 HG002 chr12:82385263:T:G 1,.,. 2.62909e-05 0 4 -1 -1 -1 METTL25 50_intron 42,.,. 0.380952,.,. METTL25/non_coding/;METTL25/intron/ 0.0000 0.8086 1.1090 6 dominant HG002 HG002 chr12:82738147:T:A 1,.,. -1 -1 -1 -1 -1 -1 TMTC2 50_intron 26,.,. 0.461538,.,. TMTC2/non_coding/;TMTC2/intron/ 0.0017 0.4757 0.6390 2 dominant HG002 HG002 chr12:82768754:A:G 1,.,. -1 -1 -1 -1 -1 -1 TMTC2 50_intron 37,.,. 0.594595,.,. TMTC2/non_coding/;TMTC2/intron/ 0.0017 0.4757 0.6390 2 recessive HG002 HG002 chr12:82937801:C:T 2,.,. -1 -1 -1 -1 -1 -1 TMTC2 50_intron 12,.,. 1,.,. TMTC2/non_coding/;TMTC2/intron/ 0.0017 0.4757 0.6390 2 dominant HG002 HG002 chr12:83345065:A:G 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.518519,.,. dominant HG002 HG002 chr12:83593744:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr12:83664787:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr12:83995736:T:TATAC 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr12:84146423:C:T 1,.,. 1.97309e-05 0 3 -1 -1 -1 52,.,. 0.423077,.,. dominant HG002 HG002 chr12:84260411:TATATATAATA:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr12:84485306:A:ATCAC 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr12:84485307:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr12:84485313:C:CTAG 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr12:84485314:A:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr12:84723793:T:G 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.377358,.,. dominant HG002 HG002 chr12:85087260:A:G 1,.,. -1 -1 -1 -1 -1 -1 LRRIQ1 50_intron 41,.,. 0.658537,.,. LRRIQ1/non_coding/;LRRIQ1/intron/ 0.0000 0.9774 1.1400 6 dominant HG002 HG002 chr12:85204713:ATTTTCCC:A 1,.,. -1 -1 -1 -1 -1 -1 LRRIQ1 50_intron 39,.,. 0.589744,.,. LRRIQ1/intron/;LRRIQ1/non_coding/ 0.0000 0.9774 1.1400 6 dominant HG002 HG002 chr12:85204721:A:G 1,.,. -1 -1 -1 -1 -1 -1 LRRIQ1 50_intron 41,.,. 0.585366,.,. LRRIQ1/intron/;LRRIQ1/non_coding/ 0.0000 0.9774 1.1400 6 dominant HG002 HG002 chr12:85204723:T:A 1,.,. -1 -1 -1 -1 -1 -1 LRRIQ1 50_intron 41,.,. 0.609756,.,. LRRIQ1/intron/;LRRIQ1/non_coding/ 0.0000 0.9774 1.1400 6 dominant HG002 HG002 chr12:85224152:G:GTTC 1,.,. -1 -1 -1 -1 -1 -1 LRRIQ1 50_intron 37,.,. 0.459459,.,. LRRIQ1/intron/;LRRIQ1/non_coding/ 0.0000 0.9774 1.1400 6 dominant HG002 HG002 chr12:85224153:C:A 1,.,. -1 -1 -1 -1 -1 -1 LRRIQ1 50_intron 37,.,. 0.459459,.,. LRRIQ1/intron/;LRRIQ1/non_coding/ 0.0000 0.9774 1.1400 6 dominant HG002 HG002 chr12:85412418:G:C 1,.,. 1.31439e-05 0 2 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr12:85536227:TTCAGG:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr12:85536234:C:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr12:85682498:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.285714,.,. dominant HG002 HG002 chr12:85948568:A:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr12:86068595:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 MGAT4C 50_intron 37,.,. 0.513514,.,. MGAT4C/intron/;MGAT4C/non_coding/ 0.2106 0.4212 0.6480 2 dominant HG002 HG002 chr12:86068601:T:G 1,.,. 6.72649e-06 0 1 -1 -1 -1 MGAT4C 50_intron 37,.,. 0.513514,.,. MGAT4C/intron/;MGAT4C/non_coding/ 0.2106 0.4212 0.6480 2 recessive HG002 HG002 chr12:86219372:A:AATT 2,.,. -1 -1 -1 -1 -1 -1 MGAT4C 50_intron 51,.,. 1,.,. MGAT4C/intron/;MGAT4C/non_coding/ 0.2106 0.4212 0.6480 2 recessive HG002 HG002 chr12:86219373:T:G 2,.,. -1 -1 -1 -1 -1 -1 MGAT4C 50_intron 51,.,. 1,.,. MGAT4C/intron/;MGAT4C/non_coding/ 0.2106 0.4212 0.6480 2 dominant HG002 HG002 chr12:87193795:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.368421,.,. dominant HG002 HG002 chr12:87668464:C:CT 1,.,. -1 -1 -1 0.000700771 0 2 50,.,. 0.42,.,. dominant HG002 HG002 chr12:88068802:A:G 1,.,. -1 -1 -1 -1 -1 -1 CEP290 50_intron 42,.,. 0.642857,.,. CEP290/intron/;CEP290/non_coding/ 0.0000 0.9548 1.0940 5 Joubert syndrome 5;Meckel syndrome, type 4;Senior-Loken syndrome 6;Bardet-Biedl syndrome 14;Leber congenital amaurosis 10 0.000 dominant HG002 HG002 chr12:88224381:G:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.387755,.,. recessive HG002 HG002 chr12:88254208:G:T 2,.,. 6.61105e-05 0 10 0.00105116 0 3 50,.,. 1,.,. dominant HG002 HG002 chr12:88256980:A:G 1,.,. 1.31517e-05 0 2 -1 -1 -1 53,.,. 0.622642,.,. dominant HG002 HG002 chr12:88409705:AGGTGTGAAAAGC:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr12:88409718:T:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr12:88441944:C:CT 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.470588,.,. dominant HG002 HG002 chr12:88441951:AAAATACTTTATAC:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.48,.,. dominant HG002 HG002 chr12:88491698:C:CACACACACACAT 1,.,. 2.31753e-05 0 3 -1 -1 -1 43,.,. 0.348837,.,. dominant HG002 HG002 chr12:88985419:GA:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.431818,.,. dominant HG002 HG002 chr12:89526581:A:G 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.454545,.,. dominant HG002 HG002 chr12:90021648:C:CCA 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.367347,.,. dominant HG002 HG002 chr12:90054838:T:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr12:90223676:T:C 1,.,. -1 -1 -1 0.00140154 0 4 27,.,. 0.592593,.,. recessive HG002 HG002 chr12:90900490:A:AAT 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr12:91421945:AGGGTGAGAG:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr12:91421955:A:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr12:91421957:A:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr12:91421958:A:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr12:91421959:G:A 1,.,. 3.53476e-05 0 4 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr12:91719791:A:G 1,.,. 7.04166e-06 0 1 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr12:93091989:G:A 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.660377,.,. dominant HG002 HG002 chr12:93225877:G:GTA 1,.,. 1.47408e-05 0 2 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr12:93225899:AATATGTATATATGT:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr12:93385939:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 NUDT4 50_intron 28,.,. 0.321429,.,. NUDT4/intron/ 0.3812 0.0000 1.7760 8 dominant HG002 HG002 chr12:93544924:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr12:93748558:C:T 1,.,. 2.6264e-05 0 4 -1 -1 -1 CRADD 50_intron 46,.,. 0.630435,.,. CRADD/intron/;CRADD/non_coding/ 0.0337 0.5539 0.9990 5 Intellectual disability, autosomal recessive 34 0.000 dominant HG002 HG002 chr12:93794961:C:T 1,.,. 1.97166e-05 0 3 -1 -1 -1 CRADD 50_intron 48,.,. 0.479167,.,. CRADD/intron/;CRADD/non_coding/ 0.0337 0.5539 0.9990 5 Intellectual disability, autosomal recessive 34 0.000 recessive HG002 HG002 chr12:93956163:ATGAAAGTTC:A 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr12:93956173:T:C 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr12:94057203:G:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr12:94057204:C:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr12:94097118:ACAAAAAAAAAAC:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. recessive HG002 HG002 chr12:94197437:T:C 2,.,. 0.00294078 2 437 0.00840925 3 24 PLXNC1 50_intron 24,.,. 1,.,. PLXNC1/intron/ 0.0008 0.4560 0.5790 1 dominant HG002 HG002 chr12:94449556:G:C 1,.,. -1 -1 -1 -1 -1 -1 CEP83 50_intron 46,.,. 0.5,.,. CEP83/intron/ 0.0000 0.5887 0.8070 3 Nephronophthisis 18 0.000 dominant HG002 HG002 chr12:94505890:A:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr12:94599561:C:CCG 1,.,. -1 -1 -1 -1 -1 -1 TMCC3 50_intron 40,.,. 0.475,.,. TMCC3/intron/ 0.0000 0.7207 1.0380 5 dominant HG002 HG002 chr12:94712655:C:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. recessive HG002 HG002 chr12:94740785:C:T 2,.,. 0.00097369 0 47 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr12:94867875:G:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.617647,.,. dominant HG002 HG002 chr12:94867876:T:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.606061,.,. dominant HG002 HG002 chr12:94867877:C:CCA 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.617647,.,. dominant HG002 HG002 chr12:94915200:T:A 1,.,. -1 -1 -1 -1 -1 -1 NDUFA12 50_intron 31,.,. 0.451613,.,. NDUFA12/intron/;NDUFA12/non_coding/ 0.0000 0.7822 1.1880 6 Mitochondrial complex 1 deficiency, nuclear type 23 0.000 dominant HG002 HG002 chr12:94984997:C:CATAACATAACATAAA 1,.,. 4.18095e-05 0 1 -1 -1 -1 NDUFA12 50_intron 36,.,. 0.555556,.,. NDUFA12/intron/;NDUFA12/non_coding/ 0.0000 0.7822 1.1880 6 Mitochondrial complex 1 deficiency, nuclear type 23 0.000 dominant HG002 HG002 chr12:94985007:A:G 1,.,. -1 -1 -1 -1 -1 -1 NDUFA12 50_intron 37,.,. 0.621622,.,. NDUFA12/intron/;NDUFA12/non_coding/ 0.0000 0.7822 1.1880 6 Mitochondrial complex 1 deficiency, nuclear type 23 0.000 dominant HG002 HG002 chr12:95148553:T:C 1,.,. 1.28241e-05 0 1 -1 -1 -1 FGD6 50_intron 32,.,. 0.375,.,. FGD6/intron/ 0.0000 0.5727 0.6910 2 dominant HG002 HG002 chr12:95148673:ATATGT:A 1,.,. 1.77595e-05 0 2 0.000700771 0 2 FGD6 50_intron 33,.,. 0.393939,.,. FGD6/intron/ 0.0000 0.5727 0.6910 2 dominant HG002 HG002 chr12:95172041:G:A 1,.,. -1 -1 -1 -1 -1 -1 FGD6 50_intron 29,.,. 0.482759,.,. FGD6/intron/ 0.0000 0.5727 0.6910 2 dominant HG002 HG002 chr12:95384525:TTTCTTTCTC:T 1,.,. -1 -1 -1 -1 -1 -1 AC084879.1 53_non_coding 28,.,. 0.464286,.,. AC084879.1/non_coding/ dominant HG002 HG002 chr12:95384535:T:C 1,.,. 0.000105042 0 3 -1 -1 -1 AC084879.1 53_non_coding 30,.,. 0.433333,.,. AC084879.1/non_coding/ dominant HG002 HG002 chr12:95563828:AAAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 PGAM1P5 53_non_coding 26,.,. 0.461538,.,. PGAM1P5/non_coding/ dominant HG002 HG002 chr12:95563834:A:G 1,.,. 4.07747e-05 0 2 -1 -1 -1 PGAM1P5 53_non_coding 29,.,. 0.551724,.,. PGAM1P5/non_coding/ dominant HG002 HG002 chr12:95599682:TTATTATTA:T 1,.,. -1 -1 -1 -1 -1 -1 PGAM1P5 53_non_coding 38,.,. 0.421053,.,. PGAM1P5/non_coding/ dominant HG002 HG002 chr12:95908549:G:GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGAGAGGGAGAGGGA 1,.,. -1 -1 -1 -1 -1 -1 CCDC38 50_intron 25,.,. 0.24,.,. CCDC38/intron/ 0.0000 0.7108 0.9550 4 dominant HG002 HG002 chr12:95998111:A:ACCC 1,.,. -1 -1 -1 0.00140154 0 4 34,.,. 0.470588,.,. dominant HG002 HG002 chr12:96166984:ACATT:A 1,.,. 2.6372e-05 0 4 -1 -1 -1 24,.,. 0.541667,.,. dominant HG002 HG002 chr12:96380186:A:C 1,.,. -1 -1 -1 -1 -1 -1 CDK17 50_intron 30,.,. 0.433333,.,. CDK17/intron/ 0.8346 0.3204 0.6020 2 dominant HG002 HG002 chr12:96484873:T:G 1,.,. 2.39962e-05 0 3 -1 -1 -1 27,.,. 0.37037,.,. dominant HG002 HG002 chr12:96536982:T:TCAATTCAATA 1,.,. -1 -1 -1 -1 -1 -1 CFAP54 50_intron 46,.,. 0.478261,.,. CFAP54/intron/ 0.0000 0.8169 0.9280 4 Ciliary dyskinesia, primary, 54;Spermatogenic failure 98 dominant HG002 HG002 chr12:97655284:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.621622,.,. dominant HG002 HG002 chr12:97899710:G:A 1,.,. 6.57272e-06 0 1 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr12:97972436:AT:A 1,.,. 0.000422476 0 4 0.000700771 0 2 39,.,. 0.461538,.,. dominant HG002 HG002 chr12:98101543:GACA:G 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.480769,.,. dominant HG002 HG002 chr12:98101547:G:C 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.480769,.,. dominant HG002 HG002 chr12:98289447:A:G 1,.,. 2.62978e-05 0 4 -1 -1 -1 48,.,. 0.541667,.,. dominant HG002 HG002 chr12:98988667:G:C 1,.,. -1 -1 -1 -1 -1 -1 ANKS1B 50_intron 35,.,. 0.428571,.,. ANKS1B/intron/;ANKS1B/non_coding/ 1.0000 0.2160 0.2980 0 dominant HG002 HG002 chr12:99122991:A:AATAT 1,.,. -1 -1 -1 -1 -1 -1 ANKS1B 50_intron 31,.,. 0.483871,.,. ANKS1B/intron/;ANKS1B/non_coding/ 1.0000 0.2160 0.2980 0 dominant HG002 HG002 chr12:99250700:T:C 1,.,. -1 -1 -1 -1 -1 -1 ANKS1B 50_intron 45,.,. 0.6,.,. ANKS1B/intron/;ANKS1B/non_coding/ 1.0000 0.2160 0.2980 0 dominant HG002 HG002 chr12:99250703:A:C 1,.,. -1 -1 -1 -1 -1 -1 ANKS1B 50_intron 45,.,. 0.6,.,. ANKS1B/intron/;ANKS1B/non_coding/ 1.0000 0.2160 0.2980 0 dominant HG002 HG002 chr12:99338164:A:G 1,.,. -1 -1 -1 -1 -1 -1 ANKS1B 50_intron 56,.,. 0.571429,.,. ANKS1B/intron/;ANKS1B/non_coding/ 1.0000 0.2160 0.2980 0 dominant HG002 HG002 chr12:99380790:TTCCTTCC:T 1,.,. -1 -1 -1 -1 -1 -1 ANKS1B 50_intron 43,.,. 0.44186,.,. ANKS1B/intron/;ANKS1B/non_coding/ 1.0000 0.2160 0.2980 0 dominant HG002 HG002 chr12:99414132:T:C 1,.,. -1 -1 -1 -1 -1 -1 ANKS1B 50_intron 35,.,. 0.6,.,. ANKS1B/intron/ 1.0000 0.2160 0.2980 0 dominant HG002 HG002 chr12:99529260:C:T 1,.,. 6.57246e-06 0 1 -1 -1 -1 ANKS1B 50_intron 62,.,. 0.548387,.,. ANKS1B/intron/;ANKS1B/non_coding/ 1.0000 0.2160 0.2980 0 dominant HG002 HG002 chr12:99590254:C:CCACA 1,.,. -1 -1 -1 -1 -1 -1 ANKS1B 50_intron 48,.,. 0.395833,.,. ANKS1B/intron/;ANKS1B/non_coding/ 1.0000 0.2160 0.2980 0 dominant HG002 HG002 chr12:99943886:T:C 1,.,. -1 -1 -1 -1 -1 -1 ANKS1B 50_intron 28,.,. 0.392857,.,. ANKS1B/intron/ 1.0000 0.2160 0.2980 0 recessive HG002 HG002 chr12:100692379:C:G 2,.,. 0.0020731 2 303 0.00105116 0 3 44,.,. 1,.,. dominant HG002 HG002 chr12:100721405:C:T 1,.,. -1 -1 -1 -1 -1 -1 ANO4 50_intron 33,.,. 0.484848,.,. ANO4/intron/ 0.0001 0.4641 0.5760 1 dominant HG002 HG002 chr12:101146740:T:TCCCTGACC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.657143,.,. dominant HG002 HG002 chr12:101146751:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.657143,.,. dominant HG002 HG002 chr12:101747636:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 GNPTAB 50_intron 40,.,. 0.45,.,. GNPTAB/intron/ 0.0000 0.6488 0.8000 3 Mucolipidosis type II;Pseudo-Hurler polydystrophy 0.000 dominant HG002 HG002 chr12:101747637:G:A 1,.,. -1 -1 -1 -1 -1 -1 GNPTAB 50_intron 40,.,. 0.45,.,. GNPTAB/intron/ 0.0000 0.6488 0.8000 3 Mucolipidosis type II;Pseudo-Hurler polydystrophy 0.000 dominant HG002 HG002 chr12:101747639:T:A 1,.,. -1 -1 -1 -1 -1 -1 GNPTAB 50_intron 40,.,. 0.45,.,. GNPTAB/intron/ 0.0000 0.6488 0.8000 3 Mucolipidosis type II;Pseudo-Hurler polydystrophy 0.000 dominant HG002 HG002 chr12:102973389:CCCTTCCTTCTTTCCTT:C 1,.,. 5.40132e-05 0 2 -1 -1 -1 34,.,. 0.294118,.,. dominant HG002 HG002 chr12:102973408:T:C 1,.,. 5.22712e-05 0 2 -1 -1 -1 35,.,. 0.342857,.,. recessive HG002 HG002 chr12:103451372:G:GTGCACCACCA 2,.,. -1 -1 -1 -1 -1 -1 C12orf42 50_intron 55,.,. 1,.,. C12orf42/intron/;C12orf42/non_coding/ 0.0000 1.2796 1.7810 8 recessive HG002 HG002 chr12:103451379:C:G 2,.,. 1.31824e-05 0 2 0.000700771 0 2 C12orf42 50_intron 57,.,. 1,.,. C12orf42/intron/;C12orf42/non_coding/ 0.0000 1.2796 1.7810 8 dominant HG002 HG002 chr12:103831589:TC:T 1,.,. -1 -1 -1 -1 -1 -1 NT5DC3 50_intron 43,.,. 0.465116,.,. NT5DC3/intron/ 0.0122 0.4835 0.7090 2 dominant HG002 HG002 chr12:103918261:TTTG:T 1,.,. 1.71692e-05 0 1 0.00140154 0 4 TTC41P 53_non_coding 22,.,. 0.363636,.,. TTC41P/non_coding/ dominant HG002 HG002 chr12:103927097:A:AGGCATG 1,.,. -1 -1 -1 -1 -1 -1 TTC41P 53_non_coding 30,.,. 0.6,.,. TTC41P/non_coding/ dominant HG002 HG002 chr12:103927098:T:A 1,.,. -1 -1 -1 -1 -1 -1 TTC41P 53_non_coding 30,.,. 0.6,.,. TTC41P/non_coding/ dominant HG002 HG002 chr12:105036096:T:G 1,.,. -1 -1 -1 -1 -1 -1 C12orf45;ALDH1L2 50_intron 52,.,. 0.5,.,. C12orf45/intron/;ALDH1L2/non_coding/ 0.0000 0.8172 0.9740 4 dominant HG002 HG002 chr12:105705095:A:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.617021,.,. recessive HG002 HG002 chr12:105744374:A:T 2,.,. 0.000354126 0 40 0.00105116 0 3 40,.,. 1,.,. dominant HG002 HG002 chr12:106323741:AAT:A 1,.,. -1 -1 -1 -1 -1 -1 TCP11L2 36_3_prime_utr 42,.,. 0.404762,.,. TCP11L2/3_prime_utr/ENST00000546625 0.0000 0.7862 1.0310 5 dominant HG002 HG002 chr12:106323747:T:A 1,.,. -1 -1 -1 -1 -1 -1 TCP11L2 36_3_prime_utr 41,.,. 0.390244,.,. TCP11L2/3_prime_utr/ENST00000546625 0.0000 0.7862 1.0310 5 dominant HG002 HG002 chr12:106616923:G:A 1,.,. -1 -1 -1 -1 -1 -1 RFX4 50_intron 37,.,. 0.459459,.,. RFX4/intron/;RFX4/non_coding/ 1.0000 0.1051 0.1780 0 dominant HG002 HG002 chr12:106669837:G:GGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 RFX4 50_intron 26,.,. 0.307692,.,. RFX4/intron/;RFX4/non_coding/ 1.0000 0.1051 0.1780 0 dominant HG002 HG002 chr12:106686848:TTTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 RFX4 50_intron 31,.,. 0.354839,.,. RFX4/intron/;RFX4/non_coding/ 1.0000 0.1051 0.1780 0 dominant HG002 HG002 chr12:106943955:A:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.586207,.,. recessive HG002 HG002 chr12:107883802:G:GGTGT 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr12:108070130:C:CCG 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.289474,.,. dominant HG002 HG002 chr12:108396948:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.34375,.,. dominant HG002 HG002 chr12:108652848:G:A 1,.,. -1 -1 -1 -1 -1 -1 CORO1C 50_intron 32,.,. 0.625,.,. CORO1C/intron/;CORO1C/non_coding/ 0.9999 0.2239 0.3800 0 dominant HG002 HG002 chr12:108652852:G:GGCACTGA 1,.,. -1 -1 -1 -1 -1 -1 CORO1C 50_intron 33,.,. 0.606061,.,. CORO1C/intron/;CORO1C/non_coding/ 0.9999 0.2239 0.3800 0 dominant HG002 HG002 chr12:109519889:C:A 1,.,. 1.31987e-05 0 2 -1 -1 -1 UBE3B 50_intron 32,.,. 0.5625,.,. UBE3B/intron/;UBE3B/non_coding/ 0.0000 0.5534 0.6750 2 Oculocerebrofacial syndrome, Kaufman type 0.000 dominant HG002 HG002 chr12:109634911:CCATCACCACCAT:C 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.380952,.,. dominant HG002 HG002 chr12:109635034:CCACCACCAT:C 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.35,.,. recessive HG002 HG002 chr12:109800411:C:CCAAGTT 2,.,. -1 -1 -1 -1 -1 -1 TRPV4 50_intron 34,.,. 1,.,. TRPV4/intron/;TRPV4/non_coding/ 0.0000 0.6619 0.8240 3 Charcot-Marie-Tooth disease axonal type 2C;Scapuloperoneal spinal muscular atrophy;Sodium serum level quantitative trait locus 1;Brachyrachia (short spine dysplasia);Spondyloepimetaphyseal dysplasia, Maroteaux type;Familial digital arthropathy-brachydactyly;Metatropic dysplasia;Avascular necrosis of femoral head, primary, 2;Parastremmatic dwarfism;Spondylometaphyseal dysplasia, Kozlowski type;Neuronopathy, distal hereditary motor, autosomal dominant 8 0.000 dominant HG002 HG002 chr12:110414664:T:C 1,.,. -1 -1 -1 -1 -1 -1 AC144548.1 53_non_coding 21,.,. 0.52381,.,. AC144548.1/non_coding/ dominant HG002 HG002 chr12:110519418:G:T 1,.,. -1 -1 -1 -1 -1 -1 RAD9B 50_intron 37,.,. 0.351351,.,. RAD9B/intron/ 0.0000 0.7877 1.1820 6 dominant HG002 HG002 chr12:110593097:CTAAA:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.341463,.,. dominant HG002 HG002 chr12:110593102:T:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.325581,.,. dominant HG002 HG002 chr12:111402195:G:A 1,.,. 1.98041e-05 0 3 -1 -1 -1 19,.,. 0.473684,.,. dominant HG002 HG002 chr12:111701402:TCACA:T 1,.,. -1 -1 -1 -1 -1 -1 ACAD10 50_intron 24,.,. 0.583333,.,. ACAD10/intron/;ACAD10/non_coding/ 0.0000 0.8966 1.0500 5 dominant HG002 HG002 chr12:111701408:A:C 1,.,. -1 -1 -1 -1 -1 -1 ACAD10 50_intron 24,.,. 0.583333,.,. ACAD10/intron/;ACAD10/non_coding/ 0.0000 0.8966 1.0500 5 dominant HG002 HG002 chr12:111847343:G:GTGCAA 1,.,. -1 -1 -1 -1 -1 -1 MAPKAPK5 50_intron 31,.,. 0.548387,.,. MAPKAPK5/intron/;MAPKAPK5/non_coding/ 0.2784 0.4113 0.6040 2 Neurocardiofaciodigital syndrome 0.000 dominant HG002 HG002 chr12:111847344:C:A 1,.,. -1 -1 -1 -1 -1 -1 MAPKAPK5 50_intron 34,.,. 0.764706,.,. MAPKAPK5/intron/;MAPKAPK5/non_coding/ 0.2784 0.4113 0.6040 2 Neurocardiofaciodigital syndrome 0.000 dominant HG002 HG002 chr12:111927556:ATAATATAATG:A 1,.,. -1 -1 -1 -1 -1 -1 ADAM1B 53_non_coding 28,.,. 0.642857,.,. ADAM1B/non_coding/ dominant HG002 HG002 chr12:111927568:G:T 1,.,. -1 -1 -1 -1 -1 -1 ADAM1B 53_non_coding 30,.,. 0.666667,.,. ADAM1B/non_coding/ dominant HG002 HG002 chr12:112369623:T:C 1,.,. -1 -1 -1 -1 -1 -1 HECTD4 50_intron 42,.,. 0.47619,.,. HECTD4/intron/ 1.0000 0.2473 0.2920 0 Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum dominant HG002 HG002 chr12:113279377:ATATATATATATATATTTTTTTT:A 1,.,. -1 -1 -1 -1 -1 -1 TPCN1 50_intron 32,.,. 0.5,.,. TPCN1/intron/;TPCN1/non_coding/ 0.0009 0.4559 0.5800 1 dominant HG002 HG002 chr12:113551882:C:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr12:113602988:T:C 1,.,. 6.57117e-06 0 1 -1 -1 -1 33,.,. 0.575758,.,. recessive HG002 HG002 chr12:113620775:G:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr12:113622464:C:G 1,.,. 1.31506e-05 0 2 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr12:113701787:T:C 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.56,.,. dominant HG002 HG002 chr12:113738107:C:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.241379,.,. dominant HG002 HG002 chr12:114134561:G:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr12:114205368:A:G 1,.,. 2.62774e-05 0 4 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr12:114357950:C:G 1,.,. 2.62812e-05 0 4 -1 -1 -1 TBX5 50_intron 26,.,. 0.5,.,. TBX5/intron/ 1.0000 0.1481 0.2670 0 Holt-Oram syndrome 0.000 dominant HG002 HG002 chr12:114431826:C:CTGTGTGTGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. recessive HG002 HG002 chr12:114550792:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr12:114550793:T:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr12:114727066:GGCATGA:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.69697,.,. dominant HG002 HG002 chr12:114727073:A:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.69697,.,. dominant HG002 HG002 chr12:114832573:TTG:T 1,.,. 4.14536e-05 0 3 -1 -1 -1 28,.,. 0.5,.,. dominant HG002 HG002 chr12:114832576:T:G 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. recessive HG002 HG002 chr12:114863191:C:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr12:114863192:T:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr12:114863193:C:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr12:114863194:A:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr12:114904169:TGTGTGA:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr12:114904179:T:A 1,.,. 2.53327e-05 0 3 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr12:115315620:A:AGACTTACTG 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr12:115315623:T:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr12:115315624:C:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr12:115315625:T:TA 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr12:115738976:A:AGGGTGCAC 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr12:115738979:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr12:115954724:A:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.52381,.,. dominant HG002 HG002 chr12:115954725:A:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.52381,.,. dominant HG002 HG002 chr12:115954727:TAAAATATA:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.52381,.,. dominant HG002 HG002 chr12:116177296:A:C 1,.,. -1 -1 -1 -1 -1 -1 MED13L 50_intron 38,.,. 0.342105,.,. MED13L/intron/ 1.0000 0.0179 0.0410 0 Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0.000 dominant HG002 HG002 chr12:116326107:G:GGTGTGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.30303,.,. dominant HG002 HG002 chr12:116647125:T:TTTTCCCCTTCC 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.333333,.,. dominant HG002 HG002 chr12:116647131:C:T 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.347826,.,. recessive HG002 HG002 chr12:116670769:TATA:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr12:116737551:A:G 2,.,. -1 -1 -1 -1 -1 -1 C12orf49 50_intron 33,.,. 1,.,. C12orf49/intron/ dominant HG002 HG002 chr12:116964460:G:A 1,.,. -1 -1 -1 -1 -1 -1 FBXW8 50_intron 43,.,. 0.302326,.,. FBXW8/intron/ 0.0000 0.9507 1.2030 6 dominant HG002 HG002 chr12:117057253:C:A 1,.,. -1 -1 -1 -1 -1 -1 TESC 50_intron 21,.,. 0.238095,.,. TESC/intron/;TESC/non_coding/ 0.0000 0.7588 1.1130 6 dominant HG002 HG002 chr12:117505457:AGCTC:A 1,.,. -1 -1 -1 -1 -1 -1 KSR2 50_intron 52,.,. 0.615385,.,. KSR2/intron/ 1.0000 0.2247 0.3180 0 dominant HG002 HG002 chr12:117505462:A:T 1,.,. -1 -1 -1 -1 -1 -1 KSR2 50_intron 51,.,. 0.627451,.,. KSR2/intron/ 1.0000 0.2247 0.3180 0 dominant HG002 HG002 chr12:117645870:T:C 1,.,. 0.00110947 0 3 -1 -1 -1 KSR2 50_intron 35,.,. 0.657143,.,. KSR2/intron/;KSR2/non_coding/ 1.0000 0.2247 0.3180 0 dominant HG002 HG002 chr12:117737853:T:TACTG 1,.,. -1 -1 -1 -1 -1 -1 KSR2 50_intron 35,.,. 0.542857,.,. KSR2/intron/ 1.0000 0.2247 0.3180 0 dominant HG002 HG002 chr12:117737854:C:A 1,.,. -1 -1 -1 -1 -1 -1 KSR2 50_intron 35,.,. 0.542857,.,. KSR2/intron/ 1.0000 0.2247 0.3180 0 dominant HG002 HG002 chr12:117786074:A:G 1,.,. 1.31384e-05 0 2 -1 -1 -1 KSR2 50_intron 36,.,. 0.5,.,. KSR2/intron/ 1.0000 0.2247 0.3180 0 dominant HG002 HG002 chr12:117844477:TGAGTA:T 1,.,. -1 -1 -1 -1 -1 -1 KSR2 50_intron 30,.,. 0.4,.,. KSR2/intron/ 1.0000 0.2247 0.3180 0 dominant HG002 HG002 chr12:117844483:T:A 1,.,. -1 -1 -1 -1 -1 -1 KSR2 50_intron 31,.,. 0.387097,.,. KSR2/intron/ 1.0000 0.2247 0.3180 0 dominant HG002 HG002 chr12:117872565:CA:C 1,.,. -1 -1 -1 0.00140154 0 4 KSR2 50_intron 27,.,. 0.481481,.,. KSR2/intron/ 1.0000 0.2247 0.3180 0 dominant HG002 HG002 chr12:118002566:A:AGAGT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr12:118002567:C:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr12:118002568:T:A 1,.,. 6.59352e-06 0 1 -1 -1 -1 36,.,. 0.5,.,. recessive HG002 HG002 chr12:118008651:T:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr12:118009897:A:AAC 1,.,. 4.94951e-05 0 3 -1 -1 -1 27,.,. 0.407407,.,. dominant HG002 HG002 chr12:118315443:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 TAOK3 50_intron 49,.,. 0.469388,.,. TAOK3/intron/;TAOK3/non_coding/ 1.0000 0.2357 0.3390 0 dominant HG002 HG002 chr12:118315445:A:C 1,.,. 6.57454e-06 0 1 -1 -1 -1 TAOK3 50_intron 49,.,. 0.469388,.,. TAOK3/intron/;TAOK3/non_coding/ 1.0000 0.2357 0.3390 0 recessive HG002 HG002 chr12:119507570:G:A 2,.,. 0.00810978 1 367 0.00105116 0 3 CCDC60 50_intron 18,.,. 1,.,. CCDC60/intron/ 0.0000 0.8166 1.0630 5 dominant HG002 HG002 chr12:119580887:A:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr12:119655202:C:T 1,.,. 2.6293e-05 0 4 -1 -1 -1 33,.,. 0.69697,.,. dominant HG002 HG002 chr12:119919562:C:G 1,.,. -1 -1 -1 0.00105116 0 3 25,.,. 0.56,.,. dominant HG002 HG002 chr12:119919563:A:G 1,.,. -1 -1 -1 0.00140154 0 4 25,.,. 0.56,.,. dominant HG002 HG002 chr12:119919615:T:C 1,.,. -1 -1 -1 0.00105116 0 3 25,.,. 0.56,.,. dominant HG002 HG002 chr12:119919623:A:G 1,.,. -1 -1 -1 0.00105116 0 3 25,.,. 0.56,.,. dominant HG002 HG002 chr12:120382728:G:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr12:120554758:C:T 1,.,. 6.57073e-06 0 1 -1 -1 -1 RNF10 14_missense 38,.,. 0.5,.,. RNF10/missense/ENST00000325954;RNF10/missense/ENST00000413266;RNF10/3_prime_utr&NMD_transcript/ENST00000538796;RNF10/3_prime_utr&NMD_transcript/ENST00000536869 0.7589 0.3896 0.5190 1 dominant HG002 HG002 chr12:120984645:TCTGACTGGCACTCAGC:T 1,.,. -1 -1 -1 -1 -1 -1 HNF1A 50_intron 20,.,. 0.55,.,. HNF1A/intron/;HNF1A/non_coding/ 0.9943 0.3314 0.4770 1 Nonpapillary renal cell carcinoma;Maturity-onset diabetes of the young type 3;Diabetes mellitus type 1;Hepatic adenomas, familial;Type 1 diabetes mellitus 20;Type 2 diabetes mellitus 0.000 dominant HG002 HG002 chr12:120984662:A:T 1,.,. -1 -1 -1 -1 -1 -1 HNF1A 50_intron 20,.,. 0.55,.,. HNF1A/intron/;HNF1A/non_coding/ 0.9943 0.3314 0.4770 1 Nonpapillary renal cell carcinoma;Maturity-onset diabetes of the young type 3;Diabetes mellitus type 1;Hepatic adenomas, familial;Type 1 diabetes mellitus 20;Type 2 diabetes mellitus 0.000 recessive HG002 HG002 chr12:120987593:T:A 2,.,. 0.00573514 0 11 -1 -1 -1 HNF1A 50_intron 17,.,. 1,.,. HNF1A/intron/;HNF1A/non_coding/ 0.9943 0.3314 0.4770 1 Nonpapillary renal cell carcinoma;Maturity-onset diabetes of the young type 3;Diabetes mellitus type 1;Hepatic adenomas, familial;Type 1 diabetes mellitus 20;Type 2 diabetes mellitus 0.000 dominant HG002 HG002 chr12:120993819:G:A 1,.,. 6.57065e-06 0 1 -1 -1 -1 HNF1A 50_intron 20,.,. 0.5,.,. HNF1A/intron/;HNF1A/non_coding/ 0.9943 0.3314 0.4770 1 Nonpapillary renal cell carcinoma;Maturity-onset diabetes of the young type 3;Diabetes mellitus type 1;Hepatic adenomas, familial;Type 1 diabetes mellitus 20;Type 2 diabetes mellitus 0.000 dominant HG002 HG002 chr12:121035540:C:A 1,.,. -1 -1 -1 -1 -1 -1 OASL 50_intron 21,.,. 0.52381,.,. OASL/intron/ 0.0000 0.7691 1.0490 5 dominant HG002 HG002 chr12:121053666:C:G 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.461538,.,. dominant HG002 HG002 chr12:121064529:A:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.586207,.,. dominant HG002 HG002 chr12:121078932:A:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. recessive HG002 HG002 chr12:121128987:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr12:121163354:A:ACACACACG 1,.,. -1 -1 -1 -1 -1 -1 P2RX7 50_intron 26,.,. 0.384615,.,. P2RX7/intron/;P2RX7/non_coding/ 0.0000 0.7553 0.9580 4 dominant HG002 HG002 chr12:121185124:T:G 1,.,. 1.31905e-05 0 2 -1 -1 -1 P2RX7 36_3_prime_utr 41,.,. 0.658537,.,. P2RX7/3_prime_utr&NMD_transcript/ENST00000261826;P2RX7/3_prime_utr/ENST00000328963 0.0000 0.7553 0.9580 4 dominant HG002 HG002 chr12:121196296:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. recessive HG002 HG002 chr12:121357400:G:GAAAGAAAGAA 2,.,. 3.1175e-05 0 4 -1 -1 -1 ANAPC5 50_intron 23,.,. 1,.,. ANAPC5/intron/ 0.0000 0.7040 0.8890 4 dominant HG002 HG002 chr12:121447940:A:G 1,.,. 6.57479e-06 0 1 -1 -1 -1 KDM2B 50_intron 44,.,. 0.613636,.,. KDM2B/intron/;KDM2B/non_coding/ 1.0000 0.1902 0.2660 0 dominant HG002 HG002 chr12:121852875:G:A 1,.,. 2.65848e-05 0 4 -1 -1 -1 HPD 50_intron 24,.,. 0.458333,.,. HPD/intron/;HPD/non_coding/ 0.0000 0.6372 0.8450 3 Tyrosinemia type III 0.000 dominant HG002 HG002 chr12:121905298:ACTGCAAGCT:A 1,.,. -1 -1 -1 -1 -1 -1 PSMD9 50_intron 34,.,. 0.470588,.,. PSMD9/intron/;PSMD9/non_coding/ 0.0000 0.9208 1.3260 7 dominant HG002 HG002 chr12:121905313:T:C 1,.,. 6.78049e-06 0 1 -1 -1 -1 PSMD9 50_intron 35,.,. 0.485714,.,. PSMD9/intron/;PSMD9/non_coding/ 0.0000 0.9208 1.3260 7 dominant HG002 HG002 chr12:122013372:G:A 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.608696,.,. recessive HG002 HG002 chr12:122474786:G:T 2,.,. -1 -1 -1 -1 -1 -1 ZCCHC8 50_intron 23,.,. 1,.,. ZCCHC8/intron/;ZCCHC8/non_coding/ 0.0007 0.5110 0.7090 2 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 0.000 recessive HG002 HG002 chr12:122474789:C:T 2,.,. -1 -1 -1 -1 -1 -1 ZCCHC8 50_intron 24,.,. 1,.,. ZCCHC8/intron/;ZCCHC8/non_coding/ 0.0007 0.5110 0.7090 2 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 0.000 recessive HG002 HG002 chr12:122474790:A:G 2,.,. -1 -1 -1 -1 -1 -1 ZCCHC8 50_intron 24,.,. 1,.,. ZCCHC8/intron/;ZCCHC8/non_coding/ 0.0007 0.5110 0.7090 2 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 0.000 dominant HG002 HG002 chr12:123328406:A:G 1,.,. 6.56953e-06 0 1 -1 -1 -1 SBNO1 50_intron 39,.,. 0.512821,.,. SBNO1/intron/ 1.0000 0.1125 0.1820 0 dominant HG002 HG002 chr12:123355423:T:C 1,.,. 1.31548e-05 0 2 -1 -1 -1 SBNO1 50_intron 38,.,. 0.578947,.,. SBNO1/intron/ 1.0000 0.1125 0.1820 0 dominant HG002 HG002 chr12:123510499:G:A 1,.,. -1 -1 -1 -1 -1 -1 RILPL1 50_intron 26,.,. 0.461538,.,. RILPL1/intron/;RILPL1/non_coding/ 0.0000 0.6990 0.9480 4 Oculopharyngodistal myopathy 4 0.000 dominant HG002 HG002 chr12:123537516:AAC:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.423077,.,. dominant HG002 HG002 chr12:123537522:A:C 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr12:123537524:C:A 1,.,. 3.3812e-05 0 3 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr12:123539179:GA:G 1,.,. 2.62943e-05 0 4 -1 -1 -1 25,.,. 0.56,.,. dominant HG002 HG002 chr12:124018211:T:C 1,.,. 1.97106e-05 0 3 -1 -1 -1 RFLNA 50_intron 43,.,. 0.465116,.,. RFLNA/intron/;RFLNA/non_coding/ 0.0096 1.0047 1.8090 9 dominant HG002 HG002 chr12:124279229:GCGCGTGTGCA:G 1,.,. 8.94406e-06 0 1 -1 -1 -1 RFLNA 50_intron 39,.,. 0.589744,.,. RFLNA/intron/ 0.0096 1.0047 1.8090 9 recessive HG002 HG002 chr12:124373846:T:C 2,.,. 0.00019976 0 1 -1 -1 -1 NCOR2 50_intron 27,.,. 1,.,. NCOR2/intron/ 0.9998 0.3733 0.4480 1 dominant HG002 HG002 chr12:124432526:C:G 1,.,. 2.62795e-05 0 4 -1 -1 -1 NCOR2 50_intron 24,.,. 0.375,.,. NCOR2/intron/ 0.9998 0.3733 0.4480 1 dominant HG002 HG002 chr12:124468693:CT:C 1,.,. -1 -1 -1 -1 -1 -1 NCOR2 50_intron 14,.,. 0.428571,.,. NCOR2/intron/ 0.9998 0.3733 0.4480 1 dominant HG002 HG002 chr12:124700540:C:T 1,.,. 1.97119e-05 0 3 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr12:125017327:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 BRI3BP 50_intron 26,.,. 0.615385,.,. BRI3BP/intron/ 0.0325 0.5851 1.0990 5 dominant HG002 HG002 chr12:125017329:T:A 1,.,. 1.32368e-05 0 2 -1 -1 -1 BRI3BP 50_intron 25,.,. 0.64,.,. BRI3BP/intron/ 0.0325 0.5851 1.0990 5 dominant HG002 HG002 chr12:125052153:G:T 1,.,. 2.6322e-05 0 4 -1 -1 -1 28,.,. 0.571429,.,. dominant HG002 HG002 chr12:125062092:T:C 1,.,. 2.64634e-05 0 4 -1 -1 -1 29,.,. 0.758621,.,. dominant HG002 HG002 chr12:125612959:A:T 1,.,. 8.8968e-05 0 1 -1 -1 -1 TMEM132B 50_intron 38,.,. 0.552632,.,. TMEM132B/intron/ 1.0000 0.1941 0.2880 0 dominant HG002 HG002 chr12:125613019:A:T 1,.,. -1 -1 -1 0.00105116 0 3 TMEM132B 50_intron 38,.,. 0.578947,.,. TMEM132B/intron/ 1.0000 0.1941 0.2880 0 dominant HG002 HG002 chr12:125650542:T:A 1,.,. 1.97511e-05 0 3 -1 -1 -1 TMEM132B 50_intron 40,.,. 0.5,.,. TMEM132B/intron/;TMEM132B/non_coding/ 1.0000 0.1941 0.2880 0 dominant HG002 HG002 chr12:125761775:C:A 1,.,. 1.97184e-05 0 3 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr12:125831911:A:AAAG 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.366667,.,. dominant HG002 HG002 chr12:125897060:G:A 1,.,. 2.63037e-05 0 4 -1 -1 -1 28,.,. 0.5,.,. dominant HG002 HG002 chr12:125906860:A:G 1,.,. 1.97187e-05 0 3 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr12:126144547:T:C 1,.,. 1.9707e-05 0 3 -1 -1 -1 21,.,. 0.47619,.,. dominant HG002 HG002 chr12:126191555:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr12:126226979:G:A 1,.,. 1.97112e-05 0 3 -1 -1 -1 52,.,. 0.480769,.,. dominant HG002 HG002 chr12:126320112:C:A 1,.,. 1.31498e-05 0 2 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr12:126494475:G:A 1,.,. 1.97221e-05 0 3 -1 -1 -1 38,.,. 0.631579,.,. recessive HG002 HG002 chr12:126497526:A:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr12:126497529:A:C 2,.,. 0.000318471 0 1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr12:126497530:A:T 2,.,. 0.00252525 0 8 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr12:126497531:G:GGACTGGTT 2,.,. 0.000309215 0 1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr12:126497532:A:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr12:126623838:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr12:126623839:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr12:126623840:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. dominant HG002 HG002 chr12:126651731:CCTT:C 1,.,. 1.97096e-05 0 3 -1 -1 -1 26,.,. 0.576923,.,. dominant HG002 HG002 chr12:126702645:A:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr12:126725685:G:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr12:126868270:T:C 1,.,. 1.97112e-05 0 3 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr12:126990873:T:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr12:126990877:C:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr12:126990880:A:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. recessive HG002 HG002 chr12:127216525:C:T 2,.,. 0.00185883 1 283 0.00140154 0 4 53,.,. 1,.,. recessive HG002 HG002 chr12:127227825:A:G 2,.,. 0.00182499 3 278 0.00140154 0 4 43,.,. 1,.,. dominant HG002 HG002 chr12:127373673:A:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr12:127373674:C:CATTAGT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr12:127373675:T:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr12:127405521:G:GCATGAGCCACC 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr12:127405522:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr12:127480577:A:T 1,.,. 0.000814332 0 1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr12:127480583:ATAT:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. recessive HG002 HG002 chr12:127585609:A:G 2,.,. 0.000287661 0 25 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr12:127740044:A:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr12:127827490:C:T 2,.,. 6.58085e-06 0 1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr12:127909157:T:A 2,.,. 0.000448149 0 10 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr12:128037930:G:A 1,.,. 2.95911e-05 0 1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr12:128037936:G:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. recessive HG002 HG002 chr12:128071278:A:G 2,.,. 0.000247097 0 2 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr12:128433794:C:CTG 1,.,. -1 -1 -1 -1 -1 -1 TMEM132C 50_intron 42,.,. 0.571429,.,. TMEM132C/intron/ 0.0001 0.5274 0.7190 2 dominant HG002 HG002 chr12:128658067:T:TCAAGGCAGGAGCAGGGACGCAGCTCCCATGGAGGCCTCAAGGCAGGAGCAGGGACGCAGCTCCCATGGAGGCCACAAGGCAGGAGCAGGGACGCAGCTCCCATGGAGGCCA 1,.,. -1 -1 -1 0.00140154 0 4 TMEM132C 50_intron 16,.,. 0.6875,.,. TMEM132C/intron/ 0.0001 0.5274 0.7190 2 dominant HG002 HG002 chr12:128664216:C:G 1,.,. -1 -1 -1 -1 -1 -1 TMEM132C 50_intron 45,.,. 0.466667,.,. TMEM132C/intron/ 0.0001 0.5274 0.7190 2 dominant HG002 HG002 chr12:128664218:G:C 1,.,. -1 -1 -1 -1 -1 -1 TMEM132C 50_intron 45,.,. 0.466667,.,. TMEM132C/intron/ 0.0001 0.5274 0.7190 2 dominant HG002 HG002 chr12:128664220:G:GGCACA 1,.,. -1 -1 -1 -1 -1 -1 TMEM132C 50_intron 45,.,. 0.466667,.,. TMEM132C/intron/ 0.0001 0.5274 0.7190 2 dominant HG002 HG002 chr12:128664223:T:TACCCATACACAGAAATA 1,.,. -1 -1 -1 -1 -1 -1 TMEM132C 50_intron 45,.,. 0.466667,.,. TMEM132C/intron/ 0.0001 0.5274 0.7190 2 recessive HG002 HG002 chr12:128738780:C:CAGATA 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr12:128738783:T:TA 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr12:128738784:T:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr12:128833394:AATAAATAAATAAAT:A 1,.,. 7.88121e-06 0 1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr12:128920447:G:A 1,.,. -1 -1 -1 -1 -1 -1 GLT1D1 50_intron 29,.,. 0.517241,.,. GLT1D1/intron/ 0.0192 0.5718 0.9980 5 dominant HG002 HG002 chr12:129004726:A:AG 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.571429,.,. recessive HG002 HG002 chr12:129131554:C:A 2,.,. 0.00508051 4 773 0.0168185 1 48 TMEM132D 50_intron 48,.,. 1,.,. TMEM132D/intron/ 0.9765 0.3472 0.5000 1 dominant HG002 HG002 chr12:129356661:T:A 1,.,. 9.13359e-06 0 1 -1 -1 -1 TMEM132D 50_intron 24,.,. 0.625,.,. TMEM132D/intron/ 0.9765 0.3472 0.5000 1 dominant HG002 HG002 chr12:129398842:C:T 1,.,. 5.2203e-05 0 2 -1 -1 -1 TMEM132D 50_intron 37,.,. 0.594595,.,. TMEM132D/intron/ 0.9765 0.3472 0.5000 1 dominant HG002 HG002 chr12:129535769:TTTGTGTGC:T 1,.,. -1 -1 -1 -1 -1 -1 TMEM132D 50_intron 26,.,. 0.346154,.,. TMEM132D/intron/ 0.9765 0.3472 0.5000 1 recessive HG002 HG002 chr12:129656292:A:G 2,.,. 8.6427e-05 0 13 0.000700771 0 2 TMEM132D 50_intron 37,.,. 1,.,. TMEM132D/intron/ 0.9765 0.3472 0.5000 1 dominant HG002 HG002 chr12:129834205:ACCAGGCACT:A 1,.,. -1 -1 -1 -1 -1 -1 TMEM132D 50_intron 30,.,. 0.5,.,. TMEM132D/intron/ 0.9765 0.3472 0.5000 1 dominant HG002 HG002 chr12:129834216:G:T 1,.,. -1 -1 -1 -1 -1 -1 TMEM132D 50_intron 30,.,. 0.5,.,. TMEM132D/intron/ 0.9765 0.3472 0.5000 1 dominant HG002 HG002 chr12:129856085:G:A 1,.,. -1 -1 -1 0.00140154 1 4 TMEM132D 50_intron 16,.,. 0.5625,.,. TMEM132D/intron/ 0.9765 0.3472 0.5000 1 dominant HG002 HG002 chr12:129995196:G:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr12:130447932:G:T 1,.,. 1.31465e-05 0 2 -1 -1 -1 RIMBP2 50_intron 18,.,. 0.5,.,. RIMBP2/intron/ 0.0007 0.4613 0.5910 2 recessive HG002 HG002 chr12:130787504:A:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr12:130852317:C:A 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.571429,.,. dominant HG002 HG002 chr12:130867258:C:T 1,.,. -1 -1 -1 -1 -1 -1 14,.,. 0.428571,.,. dominant HG002 HG002 chr12:131247145:CACACAT:C 1,.,. -1 -1 -1 -1 -1 -1 12,.,. 0.75,.,. dominant HG002 HG002 chr12:131278444:C:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.575758,.,. dominant HG002 HG002 chr12:131278445:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.575758,.,. dominant HG002 HG002 chr12:131278446:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.575758,.,. recessive HG002 HG002 chr12:131436033:ACCTAGGC:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr12:131436042:C:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr12:131436044:TTGCCAAGGTC:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr12:131436056:G:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr12:131527024:C:CAG 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr12:131527027:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr12:131581411:A:G 1,.,. -1 -1 -1 0.00105116 1 3 20,.,. 0.5,.,. dominant HG002 HG002 chr12:131582204:C:CCTGTCTCTGCACTGTGT 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.45,.,. dominant HG002 HG002 chr12:131602398:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr12:131930167:GGGGTTTAGGTGCAGGTGCGGCCGCCGGGGAAGCGGTGGGTCCGGCT:G 1,.,. -1 -1 -1 -1 -1 -1 PUS1 50_intron 24,.,. 0.416667,.,. PUS1/intron/;PUS1/non_coding/ 0.0000 0.8314 1.1610 6 Myopathy, lactic acidosis, and sideroblastic anemia 1 0.000 dominant HG002 HG002 chr12:132252844:C:G 1,.,. -1 -1 -1 -1 -1 -1 GALNT9 50_intron 16,.,. 0.375,.,. GALNT9/intron/;GALNT9/non_coding/ 0.0000 0.8552 1.0820 5 dominant HG002 HG002 chr12:132295811:G:GAACAGGGAGAGCCTCCA 1,.,. 7.47373e-06 0 1 -1 -1 -1 GALNT9 50_intron 30,.,. 0.566667,.,. GALNT9/intron/;GALNT9/non_coding/ 0.0000 0.8552 1.0820 5 recessive HG002 HG002 chr12:132305198:C:G 2,.,. 2.06971e-05 0 1 -1 -1 -1 GALNT9 50_intron 18,.,. 1,.,. GALNT9/intron/;GALNT9/non_coding/ 0.0000 0.8552 1.0820 5 recessive HG002 HG002 chr12:132305491:A:G 2,.,. -1 -1 -1 -1 -1 -1 GALNT9 50_intron 17,.,. 1,.,. GALNT9/intron/;GALNT9/non_coding/ 0.0000 0.8552 1.0820 5 recessive HG002 HG002 chr12:132305494:G:T 2,.,. -1 -1 -1 -1 -1 -1 GALNT9 50_intron 16,.,. 1,.,. GALNT9/intron/;GALNT9/non_coding/ 0.0000 0.8552 1.0820 5 dominant HG002 HG002 chr12:132321220:G:C 1,.,. 0.000138715 0 4 -1 -1 -1 GALNT9 50_intron 19,.,. 0.368421,.,. GALNT9/intron/;GALNT9/non_coding/ 0.0000 0.8552 1.0820 5 dominant HG002 HG002 chr12:132370830:C:T 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.454545,.,. dominant HG002 HG002 chr12:132370831:A:C 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.454545,.,. dominant HG002 HG002 chr12:132370832:G:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.47619,.,. dominant HG002 HG002 chr12:132370833:T:G 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.47619,.,. dominant HG002 HG002 chr12:132411358:C:T 1,.,. -1 -1 -1 -1 -1 -1 11,.,. 0.545455,.,. dominant HG002 HG002 chr12:132556609:A:T 1,.,. -1 -1 -1 -1 -1 -1 FBRSL1 50_intron 18,.,. 0.722222,.,. FBRSL1/intron/ 0.0000 0.6975 0.8830 4 dominant HG002 HG002 chr12:132562572:C:CCCCTGCCGGCCCTCAGCAGGTGGACAGACCCCTCCCCGA 1,.,. -1 -1 -1 -1 -1 -1 FBRSL1 50_intron 21,.,. 0.666667,.,. FBRSL1/intron/;FBRSL1/non_coding/ 0.0000 0.6975 0.8830 4 dominant HG002 HG002 chr12:132562576:G:C 1,.,. -1 -1 -1 -1 -1 -1 FBRSL1 50_intron 19,.,. 0.684211,.,. FBRSL1/intron/;FBRSL1/non_coding/ 0.0000 0.6975 0.8830 4 recessive HG002 HG002 chr12:132693863:T:A 2,.,. -1 -1 -1 0.0126139 0 36 PXMP2 50_intron 20,.,. 1,.,. PXMP2/intron/ 0.0011 0.6860 1.1110 6 dominant HG002 HG002 chr12:132779856:CAT:C 1,.,. -1 -1 -1 -1 -1 -1 GOLGA3 50_intron 28,.,. 0.5,.,. GOLGA3/intron/ 0.0000 0.4641 0.5680 1 dominant HG002 HG002 chr12:132949091:CAAGAGGCCTCTGA:C 1,.,. -1 -1 -1 -1 -1 -1 CHFR;ZNF605 50_intron 13,.,. 0.384615,.,. CHFR/intron/;ZNF605/non_coding/ 0.0000;;0.0003 0.7223;;1.0904 0.9290;;1.7750 4;;8 recessive HG002 HG002 chr13:16121831:G:A 2,.,. -1 -1 -1 0.00140154 2 4 19,.,. 1,.,. recessive HG002 HG002 chr13:16121856:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr13:16121860:C:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr13:16122593:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr13:16125284:C:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr13:16125291:C:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr13:16125604:C:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr13:16125962:A:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr13:16125973:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr13:16125978:C:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr13:16240269:A:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr13:16240285:C:A 2,.,. -1 -1 -1 -1 -1 -1 262,.,. 0.992366,.,. recessive HG002 HG002 chr13:16257798:A:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr13:16258932:T:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr13:16258939:C:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr13:16258950:G:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr13:16258954:T:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. dominant HG002 HG002 chr13:16259114:C:T 1,.,. -1 -1 -1 -1 -1 -1 6,.,. 0.333333,.,. recessive HG002 HG002 chr13:16381561:C:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr13:16381593:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr13:16381617:A:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr13:16415424:G:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr13:16418818:A:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr13:16418819:G:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr13:16418820:C:A 2,.,. -1 -1 -1 0.00105116 0 3 54,.,. 1,.,. recessive HG002 HG002 chr13:16421850:T:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr13:16443565:G:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr13:16490951:T:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr13:16526791:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr13:16629746:A:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr13:17008506:G:A 2,.,. -1 -1 -1 -1 -1 -1 286,.,. 0.993007,.,. recessive HG002 HG002 chr13:17015039:A:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr13:17050141:G:A 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 0.985294,.,. recessive HG002 HG002 chr13:17050159:A:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr13:17086509:G:C 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.982456,.,. recessive HG002 HG002 chr13:17131075:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr13:17150192:T:C 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr13:17150197:C:G 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr13:17150216:T:A 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr13:17150235:C:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 0.984375,.,. recessive HG002 HG002 chr13:17150241:A:G 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr13:17167862:ATC:A 2,.,. -1 -1 -1 -1 -1 -1 263,.,. 0.984791,.,. recessive HG002 HG002 chr13:17167865:A:C 2,.,. -1 -1 -1 -1 -1 -1 261,.,. 1,.,. recessive HG002 HG002 chr13:17201587:CCG:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr13:17201590:C:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 0.986111,.,. recessive HG002 HG002 chr13:17324548:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr13:17333142:GAT:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr13:17333146:G:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr13:17337765:C:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr13:17337788:A:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr13:17337794:G:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr13:17337809:T:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr13:17337837:A:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr13:17337849:T:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr13:17359372:C:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr13:17359414:C:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr13:17362819:A:G 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.991597,.,. recessive HG002 HG002 chr13:17402944:A:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr13:17416377:A:T 2,.,. -1 -1 -1 0.00140154 2 4 11,.,. 1,.,. recessive HG002 HG002 chr13:17434468:A:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr13:17443173:G:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr13:17464666:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr13:17521384:A:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr13:17553226:T:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr13:17563627:C:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr13:17566184:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr13:17566213:G:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr13:17566271:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr13:17566272:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr13:17566297:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr13:17566316:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr13:17732063:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr13:17782567:A:C 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 0.985507,.,. recessive HG002 HG002 chr13:17787867:A:AGAGCAGGT 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr13:17787868:C:T 2,.,. -1 -1 -1 0.00560617 0 16 33,.,. 1,.,. recessive HG002 HG002 chr13:17861043:T:TAGAC 2,.,. -1 -1 -1 -1 -1 -1 428,.,. 0.988318,.,. recessive HG002 HG002 chr13:17861048:A:G 2,.,. -1 -1 -1 0.00350385 2 10 450,.,. 0.993333,.,. recessive HG002 HG002 chr13:17895526:C:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 0.987654,.,. recessive HG002 HG002 chr13:17896298:T:C 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 0.985507,.,. recessive HG002 HG002 chr13:17897648:GCA:G 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr13:17951023:G:T 2,.,. -1 -1 -1 -1 -1 -1 228,.,. 1,.,. recessive HG002 HG002 chr13:17960196:C:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr13:17961897:G:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr13:18026079:G:A 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 0.985294,.,. recessive HG002 HG002 chr13:18211738:A:G 2,.,. -1 -1 -1 -1 -1 -1 592,.,. 0.998311,.,. recessive HG002 HG002 chr13:18211748:C:G 2,.,. -1 -1 -1 -1 -1 -1 590,.,. 0.998305,.,. recessive HG002 HG002 chr13:18211750:A:G 2,.,. -1 -1 -1 -1 -1 -1 596,.,. 0.984899,.,. recessive HG002 HG002 chr13:18211756:A:T 2,.,. -1 -1 -1 -1 -1 -1 595,.,. 0.998319,.,. recessive HG002 HG002 chr13:18211822:A:C 2,.,. -1 -1 -1 0.00140154 2 4 590,.,. 0.991525,.,. recessive HG002 HG002 chr13:18211823:C:T 2,.,. -1 -1 -1 -1 -1 -1 593,.,. 0.996627,.,. recessive HG002 HG002 chr13:18211836:A:T 2,.,. -1 -1 -1 -1 -1 -1 593,.,. 0.994941,.,. recessive HG002 HG002 chr13:18211844:G:T 2,.,. -1 -1 -1 -1 -1 -1 597,.,. 1,.,. recessive HG002 HG002 chr13:18211846:A:C 2,.,. -1 -1 -1 0.00140154 2 4 555,.,. 1,.,. recessive HG002 HG002 chr13:18211891:G:C 2,.,. -1 -1 -1 0.00210231 3 6 595,.,. 0.998319,.,. recessive HG002 HG002 chr13:18211919:T:C 2,.,. -1 -1 -1 0.00210231 3 6 595,.,. 0.996639,.,. recessive HG002 HG002 chr13:18211939:C:T 2,.,. -1 -1 -1 0.00210231 3 6 596,.,. 1,.,. recessive HG002 HG002 chr13:18211952:T:G 2,.,. -1 -1 -1 0.00140154 2 4 594,.,. 0.99495,.,. recessive HG002 HG002 chr13:18211966:A:C 2,.,. -1 -1 -1 -1 -1 -1 597,.,. 1,.,. recessive HG002 HG002 chr13:18211969:A:T 2,.,. -1 -1 -1 -1 -1 -1 597,.,. 1,.,. recessive HG002 HG002 chr13:18212278:A:C 2,.,. -1 -1 -1 0.00210231 3 6 597,.,. 1,.,. recessive HG002 HG002 chr13:18212297:C:A 2,.,. -1 -1 -1 0.00140154 2 4 598,.,. 0.998328,.,. recessive HG002 HG002 chr13:18212298:T:A 2,.,. -1 -1 -1 -1 -1 -1 596,.,. 0.989933,.,. recessive HG002 HG002 chr13:18212332:G:A 2,.,. -1 -1 -1 0.00140154 2 4 595,.,. 1,.,. recessive HG002 HG002 chr13:18212398:C:T 2,.,. -1 -1 -1 0.00280308 4 8 593,.,. 1,.,. recessive HG002 HG002 chr13:18212462:C:G 2,.,. -1 -1 -1 -1 -1 -1 589,.,. 1,.,. recessive HG002 HG002 chr13:18212468:T:A 2,.,. -1 -1 -1 0.00140154 2 4 557,.,. 0.998205,.,. recessive HG002 HG002 chr13:18212499:T:G 2,.,. -1 -1 -1 0.00210231 3 6 595,.,. 1,.,. recessive HG002 HG002 chr13:18212505:C:A 2,.,. -1 -1 -1 0.00140154 2 4 591,.,. 0.998308,.,. recessive HG002 HG002 chr13:18212521:C:T 2,.,. -1 -1 -1 -1 -1 -1 588,.,. 0.998299,.,. recessive HG002 HG002 chr13:18212528:G:C 2,.,. -1 -1 -1 -1 -1 -1 585,.,. 0.994872,.,. recessive HG002 HG002 chr13:18212541:A:G 2,.,. -1 -1 -1 -1 -1 -1 579,.,. 1,.,. dominant HG002 HG002 chr13:18456475:G:T 1,.,. 1.31511e-05 0 2 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr13:18462265:G:T 1,.,. 8.13326e-06 0 1 -1 -1 -1 32,.,. 0.59375,.,. dominant HG002 HG002 chr13:18553014:C:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.666667,.,. recessive HG002 HG002 chr13:18674773:A:AAACTAAATAAAT 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr13:19332456:G:C 1,.,. -1 -1 -1 -1 -1 -1 ANKRD26P3 53_non_coding 42,.,. 0.52381,.,. ANKRD26P3/non_coding/ recessive HG002 HG002 chr13:19386513:T:A 2,.,. -1 -1 -1 -1 -1 -1 PARP4P2 53_non_coding 35,.,. 1,.,. PARP4P2/non_coding/ recessive HG002 HG002 chr13:19394382:A:C 2,.,. 0.00179824 0 40 -1 -1 -1 PARP4P2 53_non_coding 36,.,. 1,.,. PARP4P2/non_coding/ recessive HG002 HG002 chr13:19394383:G:A 2,.,. -1 -1 -1 -1 -1 -1 PARP4P2 53_non_coding 36,.,. 1,.,. PARP4P2/non_coding/ recessive HG002 HG002 chr13:19394384:T:G 2,.,. 0.0018829 0 42 -1 -1 -1 PARP4P2 53_non_coding 36,.,. 1,.,. PARP4P2/non_coding/ dominant HG002 HG002 chr13:19547714:A:AATATATATACATATAT 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr13:19549747:A:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr13:19675564:G:GAAATTCATAA 1,.,. -1 -1 -1 -1 -1 -1 PSPC1 36_3_prime_utr 36,.,. 0.416667,.,. PSPC1/3_prime_utr&NMD_transcript/ENST00000492741;PSPC1/3_prime_utr&NMD_transcript/ENST00000635562 0.9919 0.2810 0.4770 1 dominant HG002 HG002 chr13:19675566:G:T 1,.,. -1 -1 -1 -1 -1 -1 PSPC1 36_3_prime_utr 36,.,. 0.416667,.,. PSPC1/3_prime_utr&NMD_transcript/ENST00000492741;PSPC1/3_prime_utr&NMD_transcript/ENST00000635562 0.9919 0.2810 0.4770 1 dominant HG002 HG002 chr13:19675567:T:G 1,.,. -1 -1 -1 -1 -1 -1 PSPC1 36_3_prime_utr 36,.,. 0.416667,.,. PSPC1/3_prime_utr&NMD_transcript/ENST00000492741;PSPC1/3_prime_utr&NMD_transcript/ENST00000635562 0.9919 0.2810 0.4770 1 dominant HG002 HG002 chr13:19870546:T:TCTTC 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.325,.,. recessive HG002 HG002 chr13:19942288:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr13:19942289:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr13:19942304:T:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr13:19949698:C:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr13:20237015:C:G 1,.,. 6.5703e-06 0 1 -1 -1 -1 31,.,. 0.451613,.,. recessive HG002 HG002 chr13:20613952:T:G 2,.,. -1 -1 -1 -1 -1 -1 IFT88 50_intron 34,.,. 1,.,. IFT88/intron/;IFT88/non_coding/ 0.0876 0.5183 1.0230 5 0.000 dominant HG002 HG002 chr13:20772940:A:C 1,.,. -1 -1 -1 -1 -1 -1 EEF1AKMT1 50_intron 39,.,. 0.384615,.,. EEF1AKMT1/intron/;EEF1AKMT1/non_coding/ 0.0000 0.7964 1.1690 6 recessive HG002 HG002 chr13:20946622:G:GTCAC 2,.,. -1 -1 -1 -1 -1 -1 HNRNPA1P30 53_non_coding 29,.,. 1,.,. HNRNPA1P30/non_coding/ recessive HG002 HG002 chr13:20946624:C:T 2,.,. -1 -1 -1 -1 -1 -1 HNRNPA1P30 53_non_coding 29,.,. 1,.,. HNRNPA1P30/non_coding/ dominant HG002 HG002 chr13:21010196:T:TCAAACAAA 1,.,. -1 -1 -1 -1 -1 -1 LATS2 50_intron 39,.,. 0.461538,.,. LATS2/intron/;LATS2/non_coding/ 0.9838 0.3476 0.4930 1 dominant HG002 HG002 chr13:21023146:AGGGCTCC:A 1,.,. 1.17581e-05 0 1 -1 -1 -1 LATS2 50_intron 35,.,. 0.457143,.,. LATS2/intron/ 0.9838 0.3476 0.4930 1 dominant HG002 HG002 chr13:21023157:C:T 1,.,. 1.17594e-05 0 1 -1 -1 -1 LATS2 50_intron 35,.,. 0.457143,.,. LATS2/intron/ 0.9838 0.3476 0.4930 1 recessive HG002 HG002 chr13:21232796:C:T 2,.,. 0.000724638 0 110 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr13:21232799:C:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr13:21232800:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr13:21232801:G:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr13:21553686:C:T 1,.,. 1.97285e-05 0 3 -1 -1 -1 MICU2 50_intron 39,.,. 0.538462,.,. MICU2/intron/;MICU2/non_coding/ 0.0000 1.0250 1.3540 7 dominant HG002 HG002 chr13:21835520:T:C 1,.,. 6.56944e-06 0 1 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr13:22017288:T:G 1,.,. 0.000219635 0 4 -1 -1 -1 28,.,. 0.321429,.,. dominant HG002 HG002 chr13:22443427:T:TTTG 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.22449,.,. dominant HG002 HG002 chr13:22443429:G:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. recessive HG002 HG002 chr13:22649492:TTTA:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr13:22649496:T:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr13:22733699:A:T 1,.,. 6.57099e-06 0 1 0.000700771 0 2 36,.,. 0.555556,.,. dominant HG002 HG002 chr13:22881682:ATATCTTGGG:A 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.454545,.,. dominant HG002 HG002 chr13:22881692:T:G 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.454545,.,. dominant HG002 HG002 chr13:22943652:A:AGC 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr13:22943653:C:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr13:22995659:G:A 1,.,. 1.31586e-05 0 2 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr13:23204613:C:T 1,.,. -1 -1 -1 -1 -1 -1 SGCG 50_intron 39,.,. 0.487179,.,. SGCG/intron/ 0.0000 0.8410 1.2110 6 Autosomal recessive limb-girdle muscular dystrophy type 2C 0.000 dominant HG002 HG002 chr13:23291343:CACA:C 1,.,. -1 -1 -1 -1 -1 -1 SGCG 50_intron 48,.,. 0.645833,.,. SGCG/intron/ 0.0000 0.8410 1.2110 6 Autosomal recessive limb-girdle muscular dystrophy type 2C 0.000 dominant HG002 HG002 chr13:23291349:G:A 1,.,. -1 -1 -1 -1 -1 -1 SGCG 50_intron 48,.,. 0.645833,.,. SGCG/intron/ 0.0000 0.8410 1.2110 6 Autosomal recessive limb-girdle muscular dystrophy type 2C 0.000 recessive HG002 HG002 chr13:23318199:C:CTAGT 2,.,. -1 -1 -1 -1 -1 -1 SGCG 50_intron 50,.,. 0.98,.,. SGCG/intron/ 0.0000 0.8410 1.2110 6 Autosomal recessive limb-girdle muscular dystrophy type 2C 0.000 recessive HG002 HG002 chr13:23318204:A:C 2,.,. 2.64855e-05 0 4 -1 -1 -1 SGCG 50_intron 49,.,. 1,.,. SGCG/intron/ 0.0000 0.8410 1.2110 6 Autosomal recessive limb-girdle muscular dystrophy type 2C 0.000 dominant HG002 HG002 chr13:23445275:G:GGGTCTGGGT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.333333,.,. dominant HG002 HG002 chr13:23445276:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.333333,.,. dominant HG002 HG002 chr13:23445277:C:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.333333,.,. recessive HG002 HG002 chr13:23556068:A:C 2,.,. 0.00142935 1 194 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr13:23908038:T:TAG 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr13:23908039:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr13:23911420:G:GAGTAGGAGGA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr13:23911423:G:A 1,.,. 6.64894e-06 0 1 -1 -1 -1 36,.,. 0.444444,.,. recessive HG002 HG002 chr13:24052059:CAGGGTTTGGCTTCT:C 2,.,. -1 -1 -1 -1 -1 -1 AL359736.1;SPATA13 50_intron 35,.,. 1,.,. AL359736.1/intron/;SPATA13/intron/ 0.0002 0.4709 0.6010 2 recessive HG002 HG002 chr13:24052074:T:C 2,.,. -1 -1 -1 -1 -1 -1 AL359736.1;SPATA13 50_intron 35,.,. 1,.,. AL359736.1/intron/;SPATA13/intron/ 0.0002 0.4709 0.6010 2 dominant HG002 HG002 chr13:24138319:A:C 1,.,. 1.33216e-05 0 2 -1 -1 -1 AL359736.1;SPATA13 50_intron 28,.,. 0.464286,.,. AL359736.1/intron/;SPATA13/intron/ 0.0002 0.4709 0.6010 2 dominant HG002 HG002 chr13:24505391:A:AACCCC 1,.,. -1 -1 -1 -1 -1 -1 TPTE2P6;PARP4 50_intron 41,.,. 0.560976,.,. TPTE2P6/non_coding/;PARP4/intron/ 0.0000 0.6396 0.7860 3 dominant HG002 HG002 chr13:24505392:C:G 1,.,. -1 -1 -1 -1 -1 -1 TPTE2P6;PARP4 50_intron 41,.,. 0.560976,.,. TPTE2P6/non_coding/;PARP4/intron/ 0.0000 0.6396 0.7860 3 dominant HG002 HG002 chr13:24595892:CAT:C 1,.,. -1 -1 -1 -1 -1 -1 TPTE2P6 53_non_coding 28,.,. 0.464286,.,. TPTE2P6/non_coding/ dominant HG002 HG002 chr13:24595897:G:A 1,.,. -1 -1 -1 -1 -1 -1 TPTE2P6 53_non_coding 27,.,. 0.481481,.,. TPTE2P6/non_coding/ dominant HG002 HG002 chr13:24595898:G:T 1,.,. -1 -1 -1 -1 -1 -1 TPTE2P6 53_non_coding 28,.,. 0.464286,.,. TPTE2P6/non_coding/ dominant HG002 HG002 chr13:24657063:T:TGTAATC 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr13:24678761:T:A 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.36,.,. dominant HG002 HG002 chr13:24698619:C:T 1,.,. -1 -1 -1 -1 -1 -1 ATP12A 50_intron 31,.,. 0.548387,.,. ATP12A/intron/ 0.0000 0.7058 0.8480 3 dominant HG002 HG002 chr13:24867871:ATTAT:A 1,.,. -1 -1 -1 -1 -1 -1 RNF17 50_intron 35,.,. 0.457143,.,. RNF17/intron/ 1.0000 0.1306 0.2280 0 recessive HG002 HG002 chr13:24876844:ATTTTATCTGATT:A 2,.,. -1 -1 -1 -1 -1 -1 RNF17 50_intron 38,.,. 1,.,. RNF17/intron/ 1.0000 0.1306 0.2280 0 recessive HG002 HG002 chr13:24876861:T:C 2,.,. -1 -1 -1 -1 -1 -1 RNF17 50_intron 38,.,. 1,.,. RNF17/intron/ 1.0000 0.1306 0.2280 0 recessive HG002 HG002 chr13:24876862:C:T 2,.,. -1 -1 -1 -1 -1 -1 RNF17 50_intron 38,.,. 1,.,. RNF17/intron/ 1.0000 0.1306 0.2280 0 dominant HG002 HG002 chr13:25746144:G:A 1,.,. -1 -1 -1 -1 -1 -1 ATP8A2 50_intron 52,.,. 0.5,.,. ATP8A2/intron/;ATP8A2/non_coding/ 0.0000 0.5752 0.7280 2 Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 0.000 dominant HG002 HG002 chr13:26040614:T:C 1,.,. 1.63361e-05 0 1 -1 -1 -1 34,.,. 0.382353,.,. dominant HG002 HG002 chr13:26040615:TCTTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr13:26078898:AATCCCAGCACTGTGGG:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.571429,.,. dominant HG002 HG002 chr13:26078915:A:G 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.571429,.,. dominant HG002 HG002 chr13:26290022:A:AATAT 1,.,. -1 -1 -1 -1 -1 -1 CDK8 50_intron 36,.,. 0.555556,.,. CDK8/intron/ 0.4680 0.3904 0.6460 2 Intellectual developmental disorder with hypotonia and behavioral abnormalities 0.000 dominant HG002 HG002 chr13:26290024:A:T 1,.,. -1 -1 -1 -1 -1 -1 CDK8 50_intron 36,.,. 0.583333,.,. CDK8/intron/ 0.4680 0.3904 0.6460 2 Intellectual developmental disorder with hypotonia and behavioral abnormalities 0.000 dominant HG002 HG002 chr13:26448464:A:T 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.481481,.,. dominant HG002 HG002 chr13:26448465:G:A 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.481481,.,. dominant HG002 HG002 chr13:26448466:A:G 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.481481,.,. dominant HG002 HG002 chr13:26809389:A:AACACACAC 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.428571,.,. recessive HG002 HG002 chr13:26957329:C:T 2,.,. 3.54333e-05 0 1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr13:27182912:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr13:27278497:CGAAGA:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.333333,.,. dominant HG002 HG002 chr13:27278503:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.333333,.,. recessive HG002 HG002 chr13:27287798:C:T 2,.,. -1 -1 -1 0.00805886 4 23 22,.,. 1,.,. dominant HG002 HG002 chr13:27530396:A:C 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.444444,.,. recessive HG002 HG002 chr13:27564372:TTTA:T 2,.,. -1 -1 -1 -1 -1 -1 LNX2 50_intron 47,.,. 1,.,. LNX2/intron/ 0.0001 0.5162 0.6900 2 recessive HG002 HG002 chr13:27564376:T:A 2,.,. -1 -1 -1 -1 -1 -1 LNX2 50_intron 47,.,. 1,.,. LNX2/intron/ 0.0001 0.5162 0.6900 2 recessive HG002 HG002 chr13:27993594:GGCAACAGAGTGAAACT:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr13:27993611:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr13:28011713:CTTTCTT:C 2,.,. 1.19543e-05 0 1 -1 -1 -1 FLT3 50_intron 23,.,. 1,.,. FLT3/intron/;FLT3/non_coding/ 0.9973 0.3429 0.4680 1 Acute lymphoid leukemia 0.000 recessive HG002 HG002 chr13:28011727:C:T 2,.,. -1 -1 -1 -1 -1 -1 FLT3 50_intron 26,.,. 1,.,. FLT3/intron/;FLT3/non_coding/ 0.9973 0.3429 0.4680 1 Acute lymphoid leukemia 0.000 dominant HG002 HG002 chr13:28313906:A:AAGAG 1,.,. -1 -1 -1 -1 -1 -1 FLT1 50_intron 31,.,. 0.419355,.,. FLT1/intron/ 1.0000 0.2819 0.3790 0 0.000 dominant HG002 HG002 chr13:28603216:T:C 1,.,. 6.57341e-06 0 1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr13:28690300:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. recessive HG002 HG002 chr13:28760770:A:G 2,.,. 0.00292091 2 418 0.00385424 0 11 40,.,. 1,.,. dominant HG002 HG002 chr13:29232290:ACACACACGCGCGCGCG:A 1,.,. -1 -1 -1 -1 -1 -1 MTUS2 50_intron 47,.,. 0.446809,.,. MTUS2/intron/;MTUS2/non_coding/ 0.9108 0.3814 0.5020 1 recessive HG002 HG002 chr13:29375579:AT:A 2,.,. -1 -1 -1 -1 -1 -1 MTUS2 50_intron 12,.,. 1,.,. MTUS2/intron/ 0.9108 0.3814 0.5020 1 dominant HG002 HG002 chr13:29414467:TTAA:T 1,.,. -1 -1 -1 -1 -1 -1 MTUS2 50_intron 24,.,. 0.416667,.,. MTUS2/intron/ 0.9108 0.3814 0.5020 1 dominant HG002 HG002 chr13:29815758:A:G 1,.,. -1 -1 -1 -1 -1 -1 UBL3 50_intron 47,.,. 0.510638,.,. UBL3/intron/ 0.6157 0.3508 0.6920 2 dominant HG002 HG002 chr13:29940931:A:G 1,.,. 1.97078e-05 0 3 -1 -1 -1 28,.,. 0.392857,.,. recessive HG002 HG002 chr13:29961118:GAGTGA:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr13:29961124:A:T 2,.,. 0.0011236 0 1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr13:30020420:C:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.59375,.,. recessive HG002 HG002 chr13:30205637:A:T 2,.,. 0.00144342 0 148 -1 -1 -1 KATNAL1 36_3_prime_utr 39,.,. 1,.,. KATNAL1/3_prime_utr/ENST00000380615 0.0000 0.6452 0.8850 4 dominant HG002 HG002 chr13:30524709:T:A 1,.,. -1 -1 -1 -1 -1 -1 HMGB1 50_intron 28,.,. 0.392857,.,. HMGB1/intron/ 0.9997 0.0000 0.1680 0 dominant HG002 HG002 chr13:30604266:ATGATC:A 1,.,. -1 -1 -1 -1 -1 -1 HMGB1 50_intron 42,.,. 0.47619,.,. HMGB1/intron/ 0.9997 0.0000 0.1680 0 dominant HG002 HG002 chr13:30604275:T:A 1,.,. -1 -1 -1 -1 -1 -1 HMGB1 50_intron 43,.,. 0.465116,.,. HMGB1/intron/ 0.9997 0.0000 0.1680 0 dominant HG002 HG002 chr13:30773824:G:GGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. recessive HG002 HG002 chr13:31331412:GCCTTCTA:G 2,.,. -1 -1 -1 -1 -1 -1 B3GLCT 36_3_prime_utr 45,.,. 1,.,. B3GLCT/3_prime_utr/ENST00000343307 0.0000 0.8176 1.1090 6 Peters plus syndrome 0.000 recessive HG002 HG002 chr13:31331420:C:T 2,.,. -1 -1 -1 -1 -1 -1 B3GLCT 36_3_prime_utr 45,.,. 1,.,. B3GLCT/3_prime_utr/ENST00000343307 0.0000 0.8176 1.1090 6 Peters plus syndrome 0.000 dominant HG002 HG002 chr13:31867340:G:A 1,.,. -1 -1 -1 0.000700771 0 2 FRY 50_intron 28,.,. 0.357143,.,. FRY/intron/;FRY/non_coding/ 1.0000 0.3558 0.4280 1 dominant HG002 HG002 chr13:31924795:G:T 1,.,. -1 -1 -1 -1 -1 -1 FRY 50_intron 42,.,. 0.452381,.,. FRY/intron/;FRY/non_coding/ 1.0000 0.3558 0.4280 1 dominant HG002 HG002 chr13:32331400:A:G 1,.,. -1 -1 -1 -1 -1 -1 BRCA2 50_intron 34,.,. 0.588235,.,. BRCA2/intron/;BRCA2/non_coding/ 0.0000 0.7112 0.8030 3 Hereditary breast ovarian cancer syndrome;Wilms tumor 1;Breast-ovarian cancer, familial, susceptibility to, 2;Familial cancer of breast;Pancreatic cancer, susceptibility to, 2;Fanconi anemia complementation group D1;Glioma susceptibility 3;Familial prostate cancer 0.000 dominant HG002 HG002 chr13:32351984:C:T 1,.,. -1 -1 -1 -1 -1 -1 BRCA2 50_intron 41,.,. 0.390244,.,. BRCA2/intron/;BRCA2/non_coding/ 0.0000 0.7112 0.8030 3 Hereditary breast ovarian cancer syndrome;Wilms tumor 1;Breast-ovarian cancer, familial, susceptibility to, 2;Familial cancer of breast;Pancreatic cancer, susceptibility to, 2;Fanconi anemia complementation group D1;Glioma susceptibility 3;Familial prostate cancer 0.000 dominant HG002 HG002 chr13:32638317:C:G 1,.,. 2.62674e-05 0 4 -1 -1 -1 PDS5B 50_intron 50,.,. 0.52,.,. PDS5B/intron/;PDS5B/non_coding/ 0.9823 0.3318 0.4980 1 dominant HG002 HG002 chr13:32713304:A:G 1,.,. -1 -1 -1 -1 -1 -1 PDS5B 50_intron 36,.,. 0.416667,.,. PDS5B/intron/ 0.9823 0.3318 0.4980 1 dominant HG002 HG002 chr13:32741786:C:G 1,.,. 6.64655e-06 0 1 -1 -1 -1 PDS5B 50_intron 44,.,. 0.545455,.,. PDS5B/intron/ 0.9823 0.3318 0.4980 1 dominant HG002 HG002 chr13:32756416:C:G 1,.,. -1 -1 -1 -1 -1 -1 PDS5B 50_intron 56,.,. 0.482143,.,. PDS5B/intron/ 0.9823 0.3318 0.4980 1 dominant HG002 HG002 chr13:32817278:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.404762,.,. dominant HG002 HG002 chr13:32894881:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.627907,.,. dominant HG002 HG002 chr13:32934193:G:A 1,.,. 6.57549e-06 0 1 -1 -1 -1 43,.,. 0.44186,.,. recessive HG002 HG002 chr13:33002983:T:TATGCCTGGCACA 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr13:33002984:G:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr13:33089143:T:C 1,.,. 6.56918e-06 0 1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr13:33121249:T:C 1,.,. 1.97371e-05 0 3 -1 -1 -1 STARD13 50_intron 33,.,. 0.393939,.,. STARD13/intron/ 0.0000 0.5684 0.7060 2 dominant HG002 HG002 chr13:33168101:C:T 1,.,. 1.98455e-05 0 3 -1 -1 -1 STARD13 50_intron 42,.,. 0.5,.,. STARD13/intron/;STARD13/non_coding/ 0.0000 0.5684 0.7060 2 dominant HG002 HG002 chr13:33177793:AAGG:A 1,.,. 5.72935e-05 0 2 -1 -1 -1 STARD13 50_intron 31,.,. 0.419355,.,. STARD13/intron/;STARD13/non_coding/ 0.0000 0.5684 0.7060 2 dominant HG002 HG002 chr13:33375484:A:G 1,.,. 2.62892e-05 0 4 -1 -1 -1 23,.,. 0.73913,.,. dominant HG002 HG002 chr13:33404849:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr13:33549717:A:G 1,.,. 1.3146e-05 0 2 -1 -1 -1 38,.,. 0.657895,.,. dominant HG002 HG002 chr13:33815312:CAGTACAGTGA:C 1,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.508475,.,. dominant HG002 HG002 chr13:33815323:A:T 1,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.508475,.,. dominant HG002 HG002 chr13:34163435:G:A 1,.,. 2.63026e-05 0 4 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr13:34404474:GTGTATATATATATATA:G 1,.,. 3.21213e-05 0 1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr13:34602874:T:C 1,.,. 6.57255e-06 0 1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr13:34757546:G:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr13:34757548:T:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr13:34757555:T:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr13:35178712:T:C 1,.,. -1 -1 -1 -1 -1 -1 NBEA 50_intron 40,.,. 0.475,.,. NBEA/intron/ 1.0000 0.0951 0.1370 0 Neurodevelopmental disorder with or without early-onset generalized epilepsy 0.000 dominant HG002 HG002 chr13:35657520:A:G 1,.,. -1 -1 -1 -1 -1 -1 NBEA 50_intron 54,.,. 0.333333,.,. NBEA/intron/ 1.0000 0.0951 0.1370 0 Neurodevelopmental disorder with or without early-onset generalized epilepsy 0.000 dominant HG002 HG002 chr13:35762006:ACTG:A 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.478261,.,. dominant HG002 HG002 chr13:35762010:C:T 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.458333,.,. recessive HG002 HG002 chr13:36222829:T:TAATAGCAA 2,.,. -1 -1 -1 -1 -1 -1 CCDC169 36_3_prime_utr 44,.,. 1,.,. CCDC169/3_prime_utr/ENST00000379864 0.0000 0.8321 1.1620 6 recessive HG002 HG002 chr13:36222830:G:A 2,.,. -1 -1 -1 -1 -1 -1 CCDC169 36_3_prime_utr 43,.,. 1,.,. CCDC169/3_prime_utr/ENST00000379864 0.0000 0.8321 1.1620 6 recessive HG002 HG002 chr13:36233226:GACT:G 2,.,. -1 -1 -1 -1 -1 -1 CCDC169-SOHLH2;CCDC169 50_intron 37,.,. 1,.,. CCDC169-SOHLH2/intron/;CCDC169/non_coding/;CCDC169/intron/ 0.0000;;0.0000 0.5494;;0.8321 0.7230;;1.1620 2;;6 recessive HG002 HG002 chr13:36233231:C:T 2,.,. -1 -1 -1 -1 -1 -1 CCDC169-SOHLH2;CCDC169 50_intron 37,.,. 1,.,. CCDC169-SOHLH2/intron/;CCDC169/non_coding/;CCDC169/intron/ 0.0000;;0.0000 0.5494;;0.8321 0.7230;;1.1620 2;;6 recessive HG002 HG002 chr13:36360274:G:GACA 2,.,. 7.2965e-05 0 10 -1 -1 -1 SPART 50_intron 37,.,. 1,.,. SPART/intron/ 0.0000 0.5772 0.7590 3 Troyer syndrome 0.000 recessive HG002 HG002 chr13:36360278:A:C 2,.,. -1 -1 -1 -1 -1 -1 SPART 50_intron 37,.,. 1,.,. SPART/intron/ 0.0000 0.5772 0.7590 3 Troyer syndrome 0.000 recessive HG002 HG002 chr13:36360280:A:AGACTCCATCTCAAAAATAAATAAATAAATAAATAAATTTTTAAACTTAAATTTTTG 2,.,. -1 -1 -1 -1 -1 -1 SPART 50_intron 31,.,. 1,.,. SPART/intron/ 0.0000 0.5772 0.7590 3 Troyer syndrome 0.000 recessive HG002 HG002 chr13:36399105:A:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr13:36399108:TATAAA:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr13:37181431:A:G 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.45283,.,. dominant HG002 HG002 chr13:37196036:C:T 1,.,. 1.54443e-05 0 2 -1 -1 -1 38,.,. 0.684211,.,. dominant HG002 HG002 chr13:37243260:ATATATATG:A 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.411765,.,. dominant HG002 HG002 chr13:37252577:CAGACT:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr13:37252585:A:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr13:37945149:A:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr13:38123819:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr13:38260454:A:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr13:38389029:T:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.425532,.,. dominant HG002 HG002 chr13:38608665:A:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.543478,.,. dominant HG002 HG002 chr13:38998072:C:CT 1,.,. -1 -1 -1 0.00140154 0 4 39,.,. 0.410256,.,. recessive HG002 HG002 chr13:39096172:A:AAACTAAACAAACT 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr13:39096173:G:A 2,.,. 6.57912e-06 0 1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr13:39096174:T:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr13:39226978:C:A 1,.,. 1.3157e-05 0 2 -1 -1 -1 LHFPL6 50_intron 30,.,. 0.333333,.,. LHFPL6/intron/ 0.1101 0.4648 0.8110 3 dominant HG002 HG002 chr13:39715274:T:C 1,.,. 2.6688e-05 0 4 -1 -1 -1 COG6 50_intron 43,.,. 0.44186,.,. COG6/intron/ 0.0000 0.7615 1.0570 5 COG6-congenital disorder of glycosylation;Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 0.000 recessive HG002 HG002 chr13:40178929:AAGAC:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr13:40178937:G:GCCCTCCTTCCTAAAAGGTTGGAATTTTTTTTTTTTT 2,.,. 1.53494e-05 0 2 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr13:40468302:C:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr13:40468304:A:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr13:40468305:T:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr13:40826770:A:T 1,.,. -1 -1 -1 -1 -1 -1 TPTE2P5 53_non_coding 32,.,. 0.5625,.,. TPTE2P5/non_coding/ dominant HG002 HG002 chr13:40909722:A:AAAAAGAAAGG 1,.,. -1 -1 -1 -1 -1 -1 TPTE2P5;SUGT1P3 53_non_coding 34,.,. 0.470588,.,. TPTE2P5/non_coding/;SUGT1P3/non_coding/ recessive HG002 HG002 chr13:41298383:A:ATACAT 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr13:41298384:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr13:41572932:A:C 1,.,. -1 -1 -1 -1 -1 -1 VWA8 50_intron 46,.,. 0.434783,.,. VWA8/intron/ 0.0000 0.8759 0.9930 5 Retinitis pigmentosa 97 dominant HG002 HG002 chr13:41636703:A:T 1,.,. -1 -1 -1 -1 -1 -1 VWA8 50_intron 39,.,. 0.410256,.,. VWA8/intron/ 0.0000 0.8759 0.9930 5 Retinitis pigmentosa 97 dominant HG002 HG002 chr13:41636705:C:A 1,.,. -1 -1 -1 -1 -1 -1 VWA8 50_intron 39,.,. 0.410256,.,. VWA8/intron/ 0.0000 0.8759 0.9930 5 Retinitis pigmentosa 97 dominant HG002 HG002 chr13:41636707:CA:C 1,.,. -1 -1 -1 -1 -1 -1 VWA8 50_intron 39,.,. 0.410256,.,. VWA8/intron/ 0.0000 0.8759 0.9930 5 Retinitis pigmentosa 97 dominant HG002 HG002 chr13:41636709:A:T 1,.,. -1 -1 -1 0.000700771 0 2 VWA8 50_intron 39,.,. 0.410256,.,. VWA8/intron/ 0.0000 0.8759 0.9930 5 Retinitis pigmentosa 97 dominant HG002 HG002 chr13:42176587:C:A 1,.,. -1 -1 -1 -1 -1 -1 DGKH 50_intron 39,.,. 0.461538,.,. DGKH/intron/;DGKH/non_coding/ 0.0000 0.5694 0.6890 2 recessive HG002 HG002 chr13:42609725:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr13:43028322:C:T 1,.,. 6.57134e-06 0 1 -1 -1 -1 DNAJC15 50_intron 23,.,. 0.304348,.,. DNAJC15/non_coding/;DNAJC15/intron/ 0.0000 1.1744 1.6340 8 dominant HG002 HG002 chr13:43254359:G:A 1,.,. 2.63196e-05 0 4 -1 -1 -1 ENOX1 50_intron 36,.,. 0.555556,.,. ENOX1/intron/ 0.0012 0.4729 0.6270 2 dominant HG002 HG002 chr13:43456111:T:C 1,.,. -1 -1 -1 -1 -1 -1 ENOX1 50_intron 48,.,. 0.5625,.,. ENOX1/intron/ 0.0012 0.4729 0.6270 2 recessive HG002 HG002 chr13:43589636:C:CTATACTT 2,.,. -1 -1 -1 -1 -1 -1 ENOX1 50_intron 39,.,. 1,.,. ENOX1/intron/ 0.0012 0.4729 0.6270 2 recessive HG002 HG002 chr13:43589637:A:G 2,.,. -1 -1 -1 -1 -1 -1 ENOX1 50_intron 39,.,. 1,.,. ENOX1/intron/ 0.0012 0.4729 0.6270 2 dominant HG002 HG002 chr13:43603514:T:A 1,.,. -1 -1 -1 -1 -1 -1 ENOX1 50_intron 41,.,. 0.487805,.,. ENOX1/intron/ 0.0012 0.4729 0.6270 2 dominant HG002 HG002 chr13:43784633:G:A 1,.,. 2.62847e-05 0 4 -1 -1 -1 ENOX1 50_intron 30,.,. 0.6,.,. ENOX1/intron/ 0.0012 0.4729 0.6270 2 dominant HG002 HG002 chr13:43939813:T:C 1,.,. 2.63113e-05 0 4 -1 -1 -1 AL512506.3 50_intron 49,.,. 0.44898,.,. AL512506.3/intron/ recessive HG002 HG002 chr13:44251521:C:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr13:44251522:T:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr13:44251523:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr13:44345501:T:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr13:44393034:AAG:A 1,.,. 1.95297e-05 0 1 -1 -1 -1 SERP2 50_intron 31,.,. 0.483871,.,. SERP2/intron/ 0.0987 0.8544 1.8400 9 dominant HG002 HG002 chr13:44393039:A:G 1,.,. 7.79271e-05 0 4 -1 -1 -1 SERP2 50_intron 34,.,. 0.529412,.,. SERP2/intron/ 0.0987 0.8544 1.8400 9 dominant HG002 HG002 chr13:44490935:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 TSC22D1 50_intron 43,.,. 0.534884,.,. TSC22D1/intron/ 1.0000 0.1140 0.1990 0 dominant HG002 HG002 chr13:44500698:GT:G 1,.,. -1 -1 -1 -1 -1 -1 TSC22D1 50_intron 47,.,. 0.404255,.,. TSC22D1/intron/ 1.0000 0.1140 0.1990 0 dominant HG002 HG002 chr13:44807681:T:C 1,.,. 6.58129e-06 0 1 -1 -1 -1 41,.,. 0.634146,.,. recessive HG002 HG002 chr13:45272772:C:G 2,.,. -1 -1 -1 -1 -1 -1 GTF2F2 50_intron 41,.,. 1,.,. GTF2F2/intron/ 0.0480 2.0342 1.9400 9 recessive HG002 HG002 chr13:45272773:T:C 2,.,. -1 -1 -1 -1 -1 -1 GTF2F2 50_intron 41,.,. 1,.,. GTF2F2/intron/ 0.0480 2.0342 1.9400 9 recessive HG002 HG002 chr13:45272774:G:T 2,.,. -1 -1 -1 -1 -1 -1 GTF2F2 50_intron 41,.,. 1,.,. GTF2F2/intron/ 0.0480 2.0342 1.9400 9 dominant HG002 HG002 chr13:45274855:T:A 1,.,. -1 -1 -1 -1 -1 -1 GTF2F2 50_intron 46,.,. 0.434783,.,. GTF2F2/intron/ 0.0480 2.0342 1.9400 9 dominant HG002 HG002 chr13:45485486:C:G 1,.,. -1 -1 -1 0.00105116 0 3 COG3 50_intron 24,.,. 0.625,.,. COG3/intron/ 1.0000 0.1897 0.3140 0 Congenital disorder of glycosylation, type IIbb dominant HG002 HG002 chr13:45651064:AAG:A 1,.,. 2.41955e-05 0 2 -1 -1 -1 40,.,. 0.3,.,. dominant HG002 HG002 chr13:45904358:A:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr13:46349460:A:G 1,.,. 1.31397e-05 0 2 -1 -1 -1 RUBCNL 50_intron 47,.,. 0.638298,.,. RUBCNL/intron/;RUBCNL/non_coding/ 0.0000 0.9581 1.2160 6 dominant HG002 HG002 chr13:46444417:T:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr13:46466138:CTG:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr13:46470174:T:TGGGTGACAGAGAAAGACTCTGTCTCAAAAAACAAAACAAAAAAAAGACAAGGGCTTGGGCCGGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGCTTAACGTGGTGAAACCCCGTCTCTACTAAAATTACAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCATGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGACAGAGCTTGCAGTAAGCCGAGATCACGCCACTGCCCTCCAGGCTGGGTGACAGAGAAAGACTCTGTCTCA 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.428571,.,. recessive HG002 HG002 chr13:46528817:G:A 2,.,. 6.61314e-05 0 10 0.000700771 0 2 39,.,. 1,.,. dominant HG002 HG002 chr13:46642215:C:T 1,.,. 6.5703e-06 0 1 -1 -1 -1 LRCH1 50_intron 41,.,. 0.439024,.,. LRCH1/intron/;LRCH1/non_coding/ 0.9938 0.3186 0.4780 1 dominant HG002 HG002 chr13:47004156:T:TCTTATCCAAG 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr13:47004157:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr13:47004159:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr13:47004161:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr13:47253479:A:AACTTCTCTATCCAAGTTCTATCTATCTGGATAGAACTTCTATCCAGAAGTTCT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.324324,.,. dominant HG002 HG002 chr13:47321221:G:GTTA 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr13:47713655:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.666667,.,. dominant HG002 HG002 chr13:48292391:T:C 1,.,. 2.62709e-05 0 4 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr13:48365068:A:T 1,.,. 2.01759e-05 0 3 -1 -1 -1 RB1 50_intron 51,.,. 0.490196,.,. RB1/intron/ 1.0000 0.1577 0.2390 0 Bone osteosarcoma;Malignant tumor of urinary bladder 0.000 dominant HG002 HG002 chr13:48493310:C:A 1,.,. 4.24502e-05 0 4 -1 -1 -1 RB1 50_intron 27,.,. 0.518519,.,. RB1/intron/ 1.0000 0.1577 0.2390 0 Bone osteosarcoma;Malignant tumor of urinary bladder 0.000 recessive HG002 HG002 chr13:49154660:C:CAT 2,.,. -1 -1 -1 -1 -1 -1 FNDC3A 50_intron 36,.,. 1,.,. FNDC3A/intron/ 1.0000 0.1465 0.2560 0 recessive HG002 HG002 chr13:49154662:A:G 2,.,. -1 -1 -1 -1 -1 -1 FNDC3A 50_intron 37,.,. 1,.,. FNDC3A/intron/ 1.0000 0.1465 0.2560 0 recessive HG002 HG002 chr13:49318621:AGG:A 2,.,. -1 -1 -1 -1 -1 -1 CAB39L 50_intron 35,.,. 1,.,. CAB39L/intron/ 0.0018 0.5850 0.9010 4 recessive HG002 HG002 chr13:49318660:G:A 2,.,. -1 -1 -1 -1 -1 -1 CAB39L 50_intron 34,.,. 1,.,. CAB39L/intron/ 0.0018 0.5850 0.9010 4 dominant HG002 HG002 chr13:49476212:A:T 1,.,. 1.97153e-05 0 3 -1 -1 -1 SETDB2 50_intron 60,.,. 0.416667,.,. SETDB2/intron/ 0.0000 0.6548 0.8580 3 dominant HG002 HG002 chr13:49508336:A:C 1,.,. -1 -1 -1 -1 -1 -1 PHF11 50_intron 42,.,. 0.47619,.,. PHF11/non_coding/;PHF11/intron/ 0.0544 1.6508 1.9310 9 recessive HG002 HG002 chr13:49548875:A:C 2,.,. -1 -1 -1 -1 -1 -1 RCBTB1 50_intron 42,.,. 1,.,. RCBTB1/intron/ 0.0000 0.5506 0.7510 3 RCBTB1-related retinopathy 0.000 recessive HG002 HG002 chr13:49548893:G:A 2,.,. -1 -1 -1 -1 -1 -1 RCBTB1 50_intron 43,.,. 1,.,. RCBTB1/intron/ 0.0000 0.5506 0.7510 3 RCBTB1-related retinopathy 0.000 dominant HG002 HG002 chr13:49553614:G:A 1,.,. 1.97161e-05 0 3 -1 -1 -1 RCBTB1 50_intron 32,.,. 0.5,.,. RCBTB1/intron/ 0.0000 0.5506 0.7510 3 RCBTB1-related retinopathy 0.000 dominant HG002 HG002 chr13:49745437:GCAGCC:G 1,.,. -1 -1 -1 -1 -1 -1 KPNA3 50_intron 45,.,. 0.4,.,. KPNA3/intron/ 1.0000 0.0679 0.2140 0 Spastic paraplegia 88, autosomal dominant 0.000 dominant HG002 HG002 chr13:49745443:C:G 1,.,. -1 -1 -1 -1 -1 -1 KPNA3 50_intron 44,.,. 0.386364,.,. KPNA3/intron/ 1.0000 0.0679 0.2140 0 Spastic paraplegia 88, autosomal dominant 0.000 dominant HG002 HG002 chr13:49855559:C:A 1,.,. 6.5754e-06 0 1 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr13:50733853:G:C 1,.,. 2.62847e-05 0 4 -1 -1 -1 DLEU7 50_intron 45,.,. 0.511111,.,. DLEU7/non_coding/;DLEU7/intron/ 0.0000 1.4304 1.9020 9 dominant HG002 HG002 chr13:51079977:G:A 1,.,. -1 -1 -1 0.000700771 0 2 GUCY1B2 53_non_coding 32,.,. 0.40625,.,. GUCY1B2/non_coding/ dominant HG002 HG002 chr13:51079999:G:A 1,.,. -1 -1 -1 0.000700771 0 2 GUCY1B2 53_non_coding 32,.,. 0.40625,.,. GUCY1B2/non_coding/ dominant HG002 HG002 chr13:51683791:G:T 1,.,. 2.6284e-05 0 4 -1 -1 -1 WDFY2 50_intron 42,.,. 0.404762,.,. WDFY2/intron/ 0.0000 0.5668 0.7770 3 dominant HG002 HG002 chr13:51683792:A:T 1,.,. 2.62995e-05 0 4 -1 -1 -1 WDFY2 50_intron 41,.,. 0.414634,.,. WDFY2/intron/ 0.0000 0.5668 0.7770 3 dominant HG002 HG002 chr13:52682170:T:C 1,.,. -1 -1 -1 -1 -1 -1 SUGT1 50_intron 54,.,. 0.5,.,. SUGT1/intron/ 1.0000 0.1923 0.3470 0 dominant HG002 HG002 chr13:52830866:A:G 1,.,. 2.62736e-05 0 4 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr13:53472899:C:A 1,.,. 2.62995e-05 0 4 -1 -1 -1 33,.,. 0.606061,.,. dominant HG002 HG002 chr13:53653298:A:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr13:53653299:T:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr13:53653300:C:CTAATTAT 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr13:53915500:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.431818,.,. dominant HG002 HG002 chr13:54124067:T:TGATATTA 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. recessive HG002 HG002 chr13:54398409:T:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr13:54408899:C:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.37931,.,. dominant HG002 HG002 chr13:54691349:T:TTGAAA 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.583333,.,. dominant HG002 HG002 chr13:54691351:A:G 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.583333,.,. dominant HG002 HG002 chr13:55064340:A:G 1,.,. 6.57999e-06 0 1 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr13:55201620:A:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.431373,.,. dominant HG002 HG002 chr13:55427792:T:TATATATACAC 1,.,. 0.000112528 0 3 0.00140154 0 4 40,.,. 0.6,.,. dominant HG002 HG002 chr13:55695329:T:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.6,.,. dominant HG002 HG002 chr13:55950767:CAGAAATA:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.387755,.,. dominant HG002 HG002 chr13:55950776:C:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.395833,.,. dominant HG002 HG002 chr13:56002907:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. recessive HG002 HG002 chr13:56460947:A:AAG 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. dominant HG002 HG002 chr13:56721888:G:GAATAATTGGTA 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr13:56944075:G:T 1,.,. 1.39766e-05 0 2 -1 -1 -1 57,.,. 0.508772,.,. recessive HG002 HG002 chr13:57259996:C:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. dominant HG002 HG002 chr13:57279593:A:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.511111,.,. recessive HG002 HG002 chr13:57482639:TGA:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr13:57482642:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr13:57707596:A:T 1,.,. -1 -1 -1 -1 -1 -1 PCDH17 50_intron 59,.,. 0.627119,.,. PCDH17/intron/ 0.9999 0.2950 0.4250 1 dominant HG002 HG002 chr13:57710721:A:C 1,.,. -1 -1 -1 -1 -1 -1 PCDH17 50_intron 46,.,. 0.695652,.,. PCDH17/intron/ 0.9999 0.2950 0.4250 1 dominant HG002 HG002 chr13:58936511:TGTCTTTGGC:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. recessive HG002 HG002 chr13:59438241:C:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr13:59583679:T:C 2,.,. -1 -1 -1 0.0217239 3 62 45,.,. 1,.,. recessive HG002 HG002 chr13:59601321:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr13:60050811:C:CTATACA 2,.,. -1 -1 -1 -1 -1 -1 DIAPH3 50_intron 38,.,. 1,.,. DIAPH3/intron/ 0.0000 0.7404 0.8890 4 Autosomal dominant auditory neuropathy 1 0.000 recessive HG002 HG002 chr13:60050815:A:C 2,.,. -1 -1 -1 -1 -1 -1 DIAPH3 50_intron 39,.,. 1,.,. DIAPH3/intron/ 0.0000 0.7404 0.8890 4 Autosomal dominant auditory neuropathy 1 0.000 dominant HG002 HG002 chr13:60084011:T:C 1,.,. -1 -1 -1 0.00140154 0 4 DIAPH3 50_intron 50,.,. 0.54,.,. DIAPH3/intron/ 0.0000 0.7404 0.8890 4 Autosomal dominant auditory neuropathy 1 0.000 recessive HG002 HG002 chr13:60890046:A:G 2,.,. 3.32765e-05 0 5 -1 -1 -1 48,.,. 1,.,. dominant HG002 HG002 chr13:60913878:A:ACAACAG 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.324324,.,. dominant HG002 HG002 chr13:61048216:G:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr13:61222182:A:AAC 1,.,. 2.74735e-05 0 3 -1 -1 -1 32,.,. 0.625,.,. dominant HG002 HG002 chr13:61222184:C:A 1,.,. 2.8591e-05 0 4 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr13:61234813:G:GGGAATTCATCACCA 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr13:61234815:C:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.510204,.,. dominant HG002 HG002 chr13:61234817:T:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.510204,.,. dominant HG002 HG002 chr13:61384886:A:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr13:61519559:G:A 1,.,. 2.63362e-05 0 4 -1 -1 -1 53,.,. 0.528302,.,. recessive HG002 HG002 chr13:62117116:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr13:62117117:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr13:62173593:T:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.325581,.,. recessive HG002 HG002 chr13:62590792:T:C 2,.,. 1.38908e-05 0 2 0.00560617 1 16 47,.,. 1,.,. recessive HG002 HG002 chr13:62590794:A:T 2,.,. 0.000119627 0 3 0.00385424 1 11 46,.,. 1,.,. dominant HG002 HG002 chr13:63178954:G:A 1,.,. 1.31475e-05 0 2 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr13:63451558:A:C 1,.,. 2.068e-05 0 2 0.00105116 0 3 37,.,. 0.405405,.,. recessive HG002 HG002 chr13:63461965:G:C 2,.,. 6.58371e-06 0 1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr13:63467010:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.375,.,. dominant HG002 HG002 chr13:63683120:GGCCA:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.511111,.,. dominant HG002 HG002 chr13:63683125:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr13:63719909:A:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.590909,.,. dominant HG002 HG002 chr13:63746039:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.392857,.,. dominant HG002 HG002 chr13:63767934:T:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr13:63953845:TTCCTTC:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.479167,.,. recessive HG002 HG002 chr13:63976804:GATGTGTA:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr13:63976812:C:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr13:63976814:CTCATG:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr13:63976821:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. dominant HG002 HG002 chr13:64114667:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr13:64114669:C:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. recessive HG002 HG002 chr13:64137062:T:G 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr13:64137063:GTAC:G 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr13:64200730:T:TTATA 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.761905,.,. dominant HG002 HG002 chr13:64396780:A:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr13:64910092:A:AATCAT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr13:64910093:T:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr13:64951178:TGGCATGTTA:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr13:64951188:C:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr13:65983932:G:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr13:66047627:C:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr13:66410290:G:GGGTACT 1,.,. -1 -1 -1 -1 -1 -1 PCDH9 50_intron 28,.,. 0.464286,.,. PCDH9/intron/ 0.9999 0.2726 0.4090 1 dominant HG002 HG002 chr13:66410291:T:A 1,.,. -1 -1 -1 -1 -1 -1 PCDH9 50_intron 28,.,. 0.464286,.,. PCDH9/intron/ 0.9999 0.2726 0.4090 1 recessive HG002 HG002 chr13:66568582:G:GCCAAACTCCTTT 2,.,. -1 -1 -1 -1 -1 -1 PCDH9 50_intron 36,.,. 1,.,. PCDH9/intron/ 0.9999 0.2726 0.4090 1 recessive HG002 HG002 chr13:66568583:G:T 2,.,. -1 -1 -1 -1 -1 -1 PCDH9 50_intron 37,.,. 1,.,. PCDH9/intron/ 0.9999 0.2726 0.4090 1 recessive HG002 HG002 chr13:66568584:A:T 2,.,. -1 -1 -1 -1 -1 -1 PCDH9 50_intron 37,.,. 1,.,. PCDH9/intron/ 0.9999 0.2726 0.4090 1 recessive HG002 HG002 chr13:66568585:T:G 2,.,. -1 -1 -1 -1 -1 -1 PCDH9 50_intron 37,.,. 1,.,. PCDH9/intron/ 0.9999 0.2726 0.4090 1 dominant HG002 HG002 chr13:66759713:T:A 1,.,. -1 -1 -1 -1 -1 -1 PCDH9 50_intron 44,.,. 0.431818,.,. PCDH9/intron/ 0.9999 0.2726 0.4090 1 dominant HG002 HG002 chr13:67193340:C:A 1,.,. -1 -1 -1 -1 -1 -1 PCDH9 50_intron 42,.,. 0.404762,.,. PCDH9/intron/ 0.9999 0.2726 0.4090 1 dominant HG002 HG002 chr13:67780692:C:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr13:68040087:A:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr13:68133321:T:TATAC 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.657895,.,. dominant HG002 HG002 chr13:68363133:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr13:68363134:C:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr13:68758676:AAAGAAAGG:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr13:68851979:C:CATCT 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr13:68941827:T:TTTAAATATTG 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr13:68941837:A:G 1,.,. 6.5937e-06 0 1 -1 -1 -1 38,.,. 0.473684,.,. recessive HG002 HG002 chr13:68967384:TATGCATAGGCTGC:T 2,.,. 0.000725689 0 2 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr13:68967398:A:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr13:69061339:T:C 1,.,. 1.38791e-05 0 2 -1 -1 -1 48,.,. 0.541667,.,. dominant HG002 HG002 chr13:69061340:A:ATAAG 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.531915,.,. dominant HG002 HG002 chr13:69137099:T:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.591837,.,. dominant HG002 HG002 chr13:69137100:AAGCCAATACTGATGGG:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.591837,.,. dominant HG002 HG002 chr13:69137117:T:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.583333,.,. dominant HG002 HG002 chr13:69260319:T:TAC 1,.,. 2.4429e-05 0 2 -1 -1 -1 52,.,. 0.442308,.,. dominant HG002 HG002 chr13:69352768:TGA:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.568627,.,. recessive HG002 HG002 chr13:69355791:TTAAC:T 2,.,. 0.0002621 0 3 -1 -1 -1 48,.,. 1,.,. dominant HG002 HG002 chr13:69939380:C:T 1,.,. -1 -1 -1 -1 -1 -1 KLHL1 50_intron 36,.,. 0.555556,.,. KLHL1/intron/ 0.0000 0.5727 0.7510 3 dominant HG002 HG002 chr13:70022272:CGTGTGTGTTTGTGTGT:C 1,.,. 1.84802e-05 0 1 -1 -1 -1 KLHL1 50_intron 32,.,. 0.40625,.,. KLHL1/intron/ 0.0000 0.5727 0.7510 3 dominant HG002 HG002 chr13:70026714:G:T 1,.,. -1 -1 -1 -1 -1 -1 KLHL1 50_intron 36,.,. 0.5,.,. KLHL1/intron/ 0.0000 0.5727 0.7510 3 dominant HG002 HG002 chr13:70148911:A:G 1,.,. 6.57255e-06 0 1 -1 -1 -1 50,.,. 0.44,.,. dominant HG002 HG002 chr13:70602956:A:AAC 1,.,. 4.11184e-05 0 3 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr13:70627064:T:TATATATA 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr13:70774801:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. recessive HG002 HG002 chr13:71067051:T:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr13:71067052:G:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr13:71067054:A:AAG 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr13:71303734:C:CGAAA 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.722222,.,. dominant HG002 HG002 chr13:71303736:A:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.722222,.,. dominant HG002 HG002 chr13:71339842:T:C 1,.,. 1.31949e-05 0 2 -1 -1 -1 49,.,. 0.408163,.,. dominant HG002 HG002 chr13:71796486:T:A 1,.,. -1 -1 -1 -1 -1 -1 DACH1 50_intron 50,.,. 0.48,.,. DACH1/intron/ 1.0000 0.2243 0.3710 0 dominant HG002 HG002 chr13:71812026:G:C 1,.,. -1 -1 -1 -1 -1 -1 DACH1 50_intron 51,.,. 0.470588,.,. DACH1/intron/ 1.0000 0.2243 0.3710 0 dominant HG002 HG002 chr13:71830192:C:G 1,.,. 2.63678e-05 0 4 -1 -1 -1 DACH1 50_intron 46,.,. 0.478261,.,. DACH1/intron/ 1.0000 0.2243 0.3710 0 recessive HG002 HG002 chr13:72272777:GGTAACA:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr13:72272784:A:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chr13:72468811:AAC:A 1,.,. 1.41179e-05 0 2 0.000700771 0 2 43,.,. 0.348837,.,. recessive HG002 HG002 chr13:73085407:C:CCTTAGA 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr13:73085410:C:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr13:73268192:G:GTGTGCGTGCA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr13:73393526:T:TCA 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr13:73393527:A:C 1,.,. 6.60476e-06 0 1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr13:73719081:C:T 1,.,. -1 -1 -1 -1 -1 -1 KLF12 50_intron 33,.,. 0.575758,.,. KLF12/intron/ 0.9989 0.2018 0.3980 0 dominant HG002 HG002 chr13:73756804:T:C 1,.,. -1 -1 -1 -1 -1 -1 KLF12 50_intron 48,.,. 0.458333,.,. KLF12/intron/ 0.9989 0.2018 0.3980 0 dominant HG002 HG002 chr13:73987026:C:T 1,.,. 1.31491e-05 0 2 -1 -1 -1 KLF12 50_intron 38,.,. 0.526316,.,. KLF12/intron/;KLF12/non_coding/ 0.9989 0.2018 0.3980 0 dominant HG002 HG002 chr13:74031738:A:G 1,.,. 6.5716e-06 0 1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr13:74065223:C:CACATATGT 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.392857,.,. recessive HG002 HG002 chr13:74140962:T:G 2,.,. 0.0122549 0 5 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr13:75539229:C:T 1,.,. -1 -1 -1 -1 -1 -1 COMMD6 53_non_coding 30,.,. 0.466667,.,. COMMD6/non_coding/ 0.1059 0.6227 1.5380 8 dominant HG002 HG002 chr13:75592415:C:CATATATAT 1,.,. -1 -1 -1 -1 -1 -1 UCHL3 50_intron 45,.,. 0.311111,.,. UCHL3/intron/;UCHL3/non_coding/ 0.0010 0.6123 0.9430 4 dominant HG002 HG002 chr13:75885286:C:CCTT 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.46,.,. dominant HG002 HG002 chr13:75983615:T:A 1,.,. 1.97192e-05 0 3 -1 -1 -1 57,.,. 0.526316,.,. dominant HG002 HG002 chr13:76227774:T:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr13:76546247:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.333333,.,. recessive HG002 HG002 chr13:76881667:C:A 2,.,. 4.60187e-05 0 7 -1 -1 -1 KCTD12 36_3_prime_utr 37,.,. 1,.,. KCTD12/3_prime_utr/ENST00000377474 0.0000 0.9965 1.5100 8 recessive HG002 HG002 chr13:76881671:A:AAG 2,.,. -1 -1 -1 -1 -1 -1 KCTD12 36_3_prime_utr 37,.,. 1,.,. KCTD12/3_prime_utr/ENST00000377474 0.0000 0.9965 1.5100 8 recessive HG002 HG002 chr13:76881672:G:A 2,.,. -1 -1 -1 -1 -1 -1 KCTD12 36_3_prime_utr 37,.,. 1,.,. KCTD12/3_prime_utr/ENST00000377474 0.0000 0.9965 1.5100 8 recessive HG002 HG002 chr13:76881677:C:CAATT 2,.,. -1 -1 -1 -1 -1 -1 KCTD12 36_3_prime_utr 37,.,. 1,.,. KCTD12/3_prime_utr/ENST00000377474 0.0000 0.9965 1.5100 8 recessive HG002 HG002 chr13:76881679:T:A 2,.,. -1 -1 -1 -1 -1 -1 KCTD12 36_3_prime_utr 37,.,. 1,.,. KCTD12/3_prime_utr/ENST00000377474 0.0000 0.9965 1.5100 8 dominant HG002 HG002 chr13:77775775:A:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr13:78286357:GAGTACT:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr13:78286365:T:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.565217,.,. recessive HG002 HG002 chr13:78425188:A:G 2,.,. -1 -1 -1 0.00280308 0 8 35,.,. 1,.,. dominant HG002 HG002 chr13:78610904:A:ATC 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr13:78610905:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr13:79032349:G:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.543478,.,. recessive HG002 HG002 chr13:80061632:C:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. recessive HG002 HG002 chr13:80061633:T:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. dominant HG002 HG002 chr13:80156990:G:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr13:80282448:G:GCCACTGCA 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr13:80282449:G:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr13:80282450:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr13:80282451:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr13:80585570:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr13:80761329:T:TGTGC 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr13:80761331:C:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.533333,.,. dominant HG002 HG002 chr13:80783716:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr13:80816915:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr13:81425757:CATAATGAAAAGTT:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.369565,.,. dominant HG002 HG002 chr13:81425771:T:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.369565,.,. dominant HG002 HG002 chr13:81540235:G:T 1,.,. 2.62888e-05 0 4 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr13:81840927:TTATATATA:T 1,.,. 0.000216169 0 1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr13:81874488:G:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.369565,.,. dominant HG002 HG002 chr13:81874489:T:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.369565,.,. dominant HG002 HG002 chr13:81874491:TGAACTTATAAG:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.369565,.,. dominant HG002 HG002 chr13:81926647:A:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr13:81926648:T:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr13:81926649:A:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr13:82081761:C:T 1,.,. 2.64089e-05 0 4 -1 -1 -1 39,.,. 0.358974,.,. dominant HG002 HG002 chr13:82179599:A:C 1,.,. 1.97184e-05 0 3 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr13:82846382:T:TAGGAAGGAAGGA 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr13:82857973:TATATATATA:T 1,.,. 8.3804e-06 0 1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr13:83015790:CTCTCTTTTTT:C 1,.,. 4.86192e-05 0 2 -1 -1 -1 39,.,. 0.358974,.,. dominant HG002 HG002 chr13:83573917:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr13:83573925:T:G 1,.,. 6.62761e-06 0 1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr13:83847684:G:C 1,.,. 1.97374e-05 0 3 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr13:84023141:G:A 1,.,. 1.97337e-05 0 3 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr13:84274725:T:C 1,.,. 1.97649e-05 0 3 -1 -1 -1 35,.,. 0.4,.,. recessive HG002 HG002 chr13:84707796:A:AATTAATATATTAAC 2,.,. 8.69843e-05 2 6 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr13:84870429:GGAACA:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr13:84870436:G:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr13:84995549:CATTGTGT:C 1,.,. -1 -1 -1 0.000700771 0 2 34,.,. 0.529412,.,. dominant HG002 HG002 chr13:85264040:T:TATACATAC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.314286,.,. dominant HG002 HG002 chr13:85340119:T:TTTTTTA 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr13:85340122:A:T 1,.,. -1 -1 -1 0.00140154 0 4 31,.,. 0.419355,.,. dominant HG002 HG002 chr13:85448006:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. recessive HG002 HG002 chr13:85693470:A:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr13:85728479:G:C 1,.,. 1.31589e-05 0 2 -1 -1 -1 39,.,. 0.333333,.,. dominant HG002 HG002 chr13:85851698:A:ATATAG 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr13:85862102:T:G 1,.,. 1.97205e-05 0 3 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr13:85869156:G:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.434783,.,. dominant HG002 HG002 chr13:85890656:T:C 1,.,. 1.31472e-05 0 2 -1 -1 -1 46,.,. 0.434783,.,. dominant HG002 HG002 chr13:85919442:A:ATGT 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.527273,.,. dominant HG002 HG002 chr13:85919446:G:A 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.517857,.,. dominant HG002 HG002 chr13:86003601:A:C 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.44,.,. dominant HG002 HG002 chr13:86085289:T:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.541667,.,. dominant HG002 HG002 chr13:86199570:CAT:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr13:86199573:A:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr13:86331360:C:T 1,.,. 1.9735e-05 0 3 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr13:86454808:T:G 1,.,. 1.97153e-05 0 3 -1 -1 -1 35,.,. 0.657143,.,. dominant HG002 HG002 chr13:86653555:TA:T 1,.,. 2.62992e-05 0 4 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr13:86685706:A:C 1,.,. 2.63459e-05 0 4 -1 -1 -1 51,.,. 0.490196,.,. dominant HG002 HG002 chr13:86974792:A:ACTAGCTTG 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr13:86974793:A:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. recessive HG002 HG002 chr13:87594870:TTATGTATTTG:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.980769,.,. recessive HG002 HG002 chr13:87594881:C:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. dominant HG002 HG002 chr13:87742896:C:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr13:87806961:G:C 1,.,. 2.64026e-05 0 4 -1 -1 -1 43,.,. 0.651163,.,. dominant HG002 HG002 chr13:87888970:A:G 1,.,. 2.6286e-05 0 4 -1 -1 -1 52,.,. 0.538462,.,. dominant HG002 HG002 chr13:88025339:A:G 1,.,. 2.63238e-05 0 4 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr13:88026217:A:G 1,.,. 2.63373e-05 0 4 -1 -1 -1 49,.,. 0.489796,.,. dominant HG002 HG002 chr13:88100483:A:AATAT 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.4,.,. dominant HG002 HG002 chr13:88247356:T:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.361702,.,. recessive HG002 HG002 chr13:88405568:T:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr13:88406573:A:T 2,.,. -1 -1 -1 0.00875964 2 25 49,.,. 1,.,. dominant HG002 HG002 chr13:88458712:A:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.659091,.,. recessive HG002 HG002 chr13:88562686:C:CTTG 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr13:88562689:T:G 2,.,. 0.00234342 2 355 0.00385424 0 11 50,.,. 1,.,. dominant HG002 HG002 chr13:88756799:A:G 1,.,. 1.97132e-05 0 3 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr13:89269751:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr13:89276648:T:A 1,.,. 0.000226347 0 1 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr13:89276650:A:ATTAT 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.469388,.,. dominant HG002 HG002 chr13:89301519:C:CATCATT 1,.,. 3.17864e-05 0 2 -1 -1 -1 38,.,. 0.368421,.,. dominant HG002 HG002 chr13:89410208:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr13:89441284:G:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr13:90041748:G:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr13:90158130:TGTTTTTTTA:T 1,.,. 3.68263e-05 0 4 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr13:90261208:G:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr13:90449078:T:A 1,.,. 6.62506e-06 0 1 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr13:90516280:A:C 1,.,. 1.97114e-05 0 3 -1 -1 -1 56,.,. 0.5,.,. dominant HG002 HG002 chr13:90654923:AAAAT:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr13:90654929:A:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr13:90659946:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr13:90659947:T:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr13:90659948:AATAGTT:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr13:90661665:AAAAT:A 1,.,. 1.34298e-05 0 2 -1 -1 -1 36,.,. 0.361111,.,. dominant HG002 HG002 chr13:90857254:ATAAAT:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr13:90857263:A:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.589744,.,. dominant HG002 HG002 chr13:90857265:C:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.589744,.,. dominant HG002 HG002 chr13:91584839:A:C 1,.,. -1 -1 -1 -1 -1 -1 GPC5 50_intron 49,.,. 0.44898,.,. GPC5/intron/ 0.0000 0.8732 1.1230 6 recessive HG002 HG002 chr13:91914671:A:ATATCTT 2,.,. -1 -1 -1 -1 -1 -1 GPC5 50_intron 44,.,. 1,.,. GPC5/intron/ 0.0000 0.8732 1.1230 6 recessive HG002 HG002 chr13:92064759:A:AAAACAAAACAAAAC 2,.,. -1 -1 -1 -1 -1 -1 GPC5 50_intron 46,.,. 1,.,. GPC5/intron/ 0.0000 0.8732 1.1230 6 dominant HG002 HG002 chr13:92344081:G:GAATTT 1,.,. -1 -1 -1 -1 -1 -1 GPC5 50_intron 37,.,. 0.540541,.,. GPC5/intron/ 0.0000 0.8732 1.1230 6 dominant HG002 HG002 chr13:92344082:G:C 1,.,. 6.59083e-06 0 1 -1 -1 -1 GPC5 50_intron 37,.,. 0.567568,.,. GPC5/intron/ 0.0000 0.8732 1.1230 6 dominant HG002 HG002 chr13:92344083:T:C 1,.,. -1 -1 -1 -1 -1 -1 GPC5 50_intron 38,.,. 0.552632,.,. GPC5/intron/ 0.0000 0.8732 1.1230 6 recessive HG002 HG002 chr13:92480758:A:T 2,.,. -1 -1 -1 -1 -1 -1 GPC5 50_intron 48,.,. 1,.,. GPC5/intron/ 0.0000 0.8732 1.1230 6 recessive HG002 HG002 chr13:92480759:T:G 2,.,. -1 -1 -1 -1 -1 -1 GPC5 50_intron 48,.,. 1,.,. GPC5/intron/ 0.0000 0.8732 1.1230 6 recessive HG002 HG002 chr13:92480760:C:T 2,.,. -1 -1 -1 -1 -1 -1 GPC5 50_intron 48,.,. 1,.,. GPC5/intron/ 0.0000 0.8732 1.1230 6 dominant HG002 HG002 chr13:92740904:A:T 1,.,. -1 -1 -1 -1 -1 -1 GPC5 50_intron 40,.,. 0.4,.,. GPC5/intron/ 0.0000 0.8732 1.1230 6 dominant HG002 HG002 chr13:92977375:T:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr13:92977377:A:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr13:92977378:T:TTTCTCTCACTGTTCTTGATTTTGCATAGTTTTTATTGCTATGATTTAAGTTTATTGATTTTCTTATGGTTTCTAATCTCATACTACCATCAGGGAATAATTTATTTCAGATTTTTTTTTTGAAGTTTGGTTTTGTTCTTTTTTACATCTTACATTTCTCACCTCTCTGTCTTCATATTTTCTTTATGTAGATGGACATATTTATAATAACATATTTGCAATCCCATCACTTCTGTAACTTCTGAATCTGATTCTAGTAACTAATTGTTCTCTGTATTTTATGTTA 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.354839,.,. dominant HG002 HG002 chr13:93063532:C:A 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.618182,.,. dominant HG002 HG002 chr13:93082544:G:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.708333,.,. dominant HG002 HG002 chr13:93089970:T:G 1,.,. 3.1954e-05 0 2 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr13:93089971:A:ATAT 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr13:93300415:G:A 1,.,. -1 -1 -1 0.00105116 0 3 GPC6 50_intron 39,.,. 0.512821,.,. GPC6/intron/ 1.0000 0.2417 0.3840 0 Autosomal recessive omodysplasia 0.000 dominant HG002 HG002 chr13:93629047:A:AAAAC 1,.,. -1 -1 -1 -1 -1 -1 GPC6 50_intron 31,.,. 0.354839,.,. GPC6/intron/ 1.0000 0.2417 0.3840 0 Autosomal recessive omodysplasia 0.000 recessive HG002 HG002 chr13:94105345:CAAATAGAGCAA:C 2,.,. -1 -1 -1 -1 -1 -1 GPC6 50_intron 56,.,. 1,.,. GPC6/intron/ 1.0000 0.2417 0.3840 0 Autosomal recessive omodysplasia 0.000 recessive HG002 HG002 chr13:94105359:T:G 2,.,. 3.30491e-05 0 1 -1 -1 -1 GPC6 50_intron 53,.,. 1,.,. GPC6/intron/ 1.0000 0.2417 0.3840 0 Autosomal recessive omodysplasia 0.000 recessive HG002 HG002 chr13:94105361:T:C 2,.,. 0.000165038 2 5 -1 -1 -1 GPC6 50_intron 56,.,. 1,.,. GPC6/intron/ 1.0000 0.2417 0.3840 0 Autosomal recessive omodysplasia 0.000 dominant HG002 HG002 chr13:94245393:A:G 1,.,. 2.64061e-05 0 4 -1 -1 -1 GPC6 50_intron 45,.,. 0.444444,.,. GPC6/intron/ 1.0000 0.2417 0.3840 0 Autosomal recessive omodysplasia 0.000 dominant HG002 HG002 chr13:94288948:TAGATA:T 1,.,. -1 -1 -1 -1 -1 -1 GPC6 50_intron 42,.,. 0.452381,.,. GPC6/intron/ 1.0000 0.2417 0.3840 0 Autosomal recessive omodysplasia 0.000 dominant HG002 HG002 chr13:94293104:A:C 1,.,. -1 -1 -1 -1 -1 -1 GPC6 50_intron 43,.,. 0.488372,.,. GPC6/intron/ 1.0000 0.2417 0.3840 0 Autosomal recessive omodysplasia 0.000 dominant HG002 HG002 chr13:94293105:A:AGAATCG 1,.,. -1 -1 -1 -1 -1 -1 GPC6 50_intron 43,.,. 0.488372,.,. GPC6/intron/ 1.0000 0.2417 0.3840 0 Autosomal recessive omodysplasia 0.000 dominant HG002 HG002 chr13:94410777:G:GT 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr13:95226140:CAATTACTTCATCTGG:C 1,.,. 0.000309278 0 3 -1 -1 -1 ABCC4 50_intron 52,.,. 0.480769,.,. ABCC4/intron/;ABCC4/non_coding/ 0.0000 0.5352 0.6470 2 dominant HG002 HG002 chr13:95397801:CACTTTG:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.575758,.,. dominant HG002 HG002 chr13:95397808:G:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.575758,.,. dominant HG002 HG002 chr13:95680374:A:G 1,.,. -1 -1 -1 -1 -1 -1 DNAJC3 50_intron 35,.,. 0.6,.,. DNAJC3/intron/ 0.0000 0.5517 0.7380 3 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 0.000 dominant HG002 HG002 chr13:95737078:T:C 1,.,. -1 -1 -1 -1 -1 -1 DNAJC3 50_intron 33,.,. 0.363636,.,. DNAJC3/intron/ 0.0000 0.5517 0.7380 3 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 0.000 dominant HG002 HG002 chr13:96187858:T:C 1,.,. -1 -1 -1 -1 -1 -1 HS6ST3 50_intron 51,.,. 0.490196,.,. HS6ST3/intron/ 0.4306 0.3956 0.6410 2 dominant HG002 HG002 chr13:96298930:T:A 1,.,. 6.56944e-06 0 1 -1 -1 -1 HS6ST3 50_intron 45,.,. 0.377778,.,. HS6ST3/intron/ 0.4306 0.3956 0.6410 2 dominant HG002 HG002 chr13:96326177:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 HS6ST3 50_intron 42,.,. 0.452381,.,. HS6ST3/intron/ 0.4306 0.3956 0.6410 2 recessive HG002 HG002 chr13:96634887:C:CTTGTTGGACTTGTTGA 2,.,. -1 -1 -1 -1 -1 -1 HS6ST3 50_intron 44,.,. 1,.,. HS6ST3/intron/ 0.4306 0.3956 0.6410 2 recessive HG002 HG002 chr13:96634888:A:G 2,.,. -1 -1 -1 -1 -1 -1 HS6ST3 50_intron 42,.,. 1,.,. HS6ST3/intron/ 0.4306 0.3956 0.6410 2 recessive HG002 HG002 chr13:96634890:T:C 2,.,. -1 -1 -1 -1 -1 -1 HS6ST3 50_intron 44,.,. 1,.,. HS6ST3/intron/ 0.4306 0.3956 0.6410 2 recessive HG002 HG002 chr13:96634892:G:A 2,.,. -1 -1 -1 -1 -1 -1 HS6ST3 50_intron 44,.,. 1,.,. HS6ST3/intron/ 0.4306 0.3956 0.6410 2 dominant HG002 HG002 chr13:96688225:AATC:A 1,.,. -1 -1 -1 -1 -1 -1 HS6ST3 50_intron 51,.,. 0.588235,.,. HS6ST3/intron/ 0.4306 0.3956 0.6410 2 dominant HG002 HG002 chr13:96764791:A:C 1,.,. -1 -1 -1 -1 -1 -1 HS6ST3 50_intron 44,.,. 0.522727,.,. HS6ST3/intron/ 0.4306 0.3956 0.6410 2 dominant HG002 HG002 chr13:97155381:C:CTT 1,.,. 2.85972e-05 0 4 0.000700771 0 2 39,.,. 0.410256,.,. dominant HG002 HG002 chr13:97180751:A:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr13:97333996:GAGAA:G 1,.,. 9.96214e-06 0 1 -1 -1 -1 MBNL2 50_intron 33,.,. 0.545455,.,. MBNL2/intron/ 0.9076 0.3204 0.5590 1 dominant HG002 HG002 chr13:97334002:G:A 1,.,. -1 -1 -1 0.000700771 0 2 MBNL2 50_intron 33,.,. 0.545455,.,. MBNL2/intron/ 0.9076 0.3204 0.5590 1 dominant HG002 HG002 chr13:97571714:A:ATGTGTGTATATATATATG 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.44,.,. dominant HG002 HG002 chr13:97600795:T:TACA 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr13:97600798:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. recessive HG002 HG002 chr13:98212020:T:TAGC 2,.,. -1 -1 -1 -1 -1 -1 FARP1 50_intron 39,.,. 1,.,. FARP1/intron/;FARP1/non_coding/ 0.0615 0.4234 0.5480 1 recessive HG002 HG002 chr13:98212022:A:G 2,.,. -1 -1 -1 -1 -1 -1 FARP1 50_intron 39,.,. 1,.,. FARP1/intron/;FARP1/non_coding/ 0.0615 0.4234 0.5480 1 dominant HG002 HG002 chr13:98662933:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr13:98662934:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr13:98734512:A:T 1,.,. 2.62847e-05 0 4 -1 -1 -1 SLC15A1 50_intron 39,.,. 0.538462,.,. SLC15A1/intron/ 0.0000 0.9045 1.1170 6 dominant HG002 HG002 chr13:98875326:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 DOCK9 50_intron 43,.,. 0.511628,.,. DOCK9/intron/ 1.0000 0.3513 0.4250 1 dominant HG002 HG002 chr13:98875327:T:A 1,.,. -1 -1 -1 -1 -1 -1 DOCK9 50_intron 43,.,. 0.511628,.,. DOCK9/intron/ 1.0000 0.3513 0.4250 1 dominant HG002 HG002 chr13:98917643:T:TTC 1,.,. 2.64676e-05 0 3 -1 -1 -1 DOCK9 50_intron 40,.,. 0.3,.,. DOCK9/intron/ 1.0000 0.3513 0.4250 1 dominant HG002 HG002 chr13:99163366:C:A 1,.,. 1.98166e-05 0 3 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr13:99280834:T:C 1,.,. -1 -1 -1 -1 -1 -1 UBAC2 50_intron 28,.,. 0.5,.,. UBAC2/intron/;UBAC2/non_coding/ 0.0001 0.5967 0.8590 3 0.000 dominant HG002 HG002 chr13:100040944:T:A 1,.,. 1.97353e-05 0 3 -1 -1 -1 40,.,. 0.475,.,. recessive HG002 HG002 chr13:100074896:T:G 2,.,. 0.00014108 0 21 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr13:100188805:G:C 1,.,. 1.31603e-05 0 2 -1 -1 -1 PCCA 50_intron 50,.,. 0.28,.,. PCCA/intron/ 0.0000 0.6718 0.9860 5 0.000 recessive HG002 HG002 chr13:100325413:ATGTGAAG:A 2,.,. -1 -1 -1 -1 -1 -1 PCCA 50_intron 32,.,. 1,.,. PCCA/intron/ 0.0000 0.6718 0.9860 5 0.000 recessive HG002 HG002 chr13:100325421:G:C 2,.,. -1 -1 -1 -1 -1 -1 PCCA 50_intron 32,.,. 1,.,. PCCA/intron/ 0.0000 0.6718 0.9860 5 0.000 recessive HG002 HG002 chr13:100325422:G:A 2,.,. -1 -1 -1 -1 -1 -1 PCCA 50_intron 32,.,. 1,.,. PCCA/intron/ 0.0000 0.6718 0.9860 5 0.000 dominant HG002 HG002 chr13:100680136:G:A 1,.,. 1.32043e-05 0 2 -1 -1 -1 23,.,. 0.652174,.,. dominant HG002 HG002 chr13:100781558:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.285714,.,. dominant HG002 HG002 chr13:100998239:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr13:101254592:TAAGAATGAATGACATGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAA:T 1,.,. -1 -1 -1 -1 -1 -1 NALCN 50_intron 36,.,. 0.416667,.,. NALCN/intron/;NALCN/non_coding/ 0.0000 0.4908 0.5790 1 Congenital contractures of the limbs and face, hypotonia, and developmental delay;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0.000 dominant HG002 HG002 chr13:101442671:AAT:A 1,.,. 3.42472e-05 0 4 -1 -1 -1 41,.,. 0.536585,.,. recessive HG002 HG002 chr13:101704077:GAAT:G 2,.,. -1 -1 -1 -1 -1 -1 ITGBL1 50_intron 46,.,. 1,.,. ITGBL1/intron/ 0.0000 0.8478 1.1070 6 recessive HG002 HG002 chr13:101704082:A:C 2,.,. -1 -1 -1 -1 -1 -1 ITGBL1 50_intron 46,.,. 1,.,. ITGBL1/intron/ 0.0000 0.8478 1.1070 6 recessive HG002 HG002 chr13:101704084:T:A 2,.,. -1 -1 -1 -1 -1 -1 ITGBL1 50_intron 46,.,. 1,.,. ITGBL1/intron/ 0.0000 0.8478 1.1070 6 recessive HG002 HG002 chr13:101739111:G:A 2,.,. -1 -1 -1 -1 -1 -1 FGF14 50_intron 38,.,. 1,.,. FGF14/intron/ 0.9798 0.2105 0.4820 1 Spinocerebellar ataxia 27B, late-onset;Spinocerebellar ataxia 27A 0.000 recessive HG002 HG002 chr13:101739113:A:G 2,.,. 0.000246731 0 2 -1 -1 -1 FGF14 50_intron 38,.,. 1,.,. FGF14/intron/ 0.9798 0.2105 0.4820 1 Spinocerebellar ataxia 27B, late-onset;Spinocerebellar ataxia 27A 0.000 recessive HG002 HG002 chr13:101771779:C:CT 2,.,. 0.00664748 4 1007 0.00385424 0 11 FGF14 50_intron 47,.,. 1,.,. FGF14/intron/ 0.9798 0.2105 0.4820 1 Spinocerebellar ataxia 27B, late-onset;Spinocerebellar ataxia 27A 0.000 dominant HG002 HG002 chr13:101838349:G:A 1,.,. 2.63033e-05 0 4 -1 -1 -1 FGF14 50_intron 51,.,. 0.509804,.,. FGF14/intron/ 0.9798 0.2105 0.4820 1 Spinocerebellar ataxia 27B, late-onset;Spinocerebellar ataxia 27A 0.000 dominant HG002 HG002 chr13:102407342:C:A 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.490196,.,. dominant HG002 HG002 chr13:102424900:A:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr13:102445522:AAAC:A 1,.,. 2.63023e-05 0 4 0.000700771 0 2 36,.,. 0.472222,.,. recessive HG002 HG002 chr13:102663132:T:TTATTTA 2,.,. 0.00084326 0 127 -1 -1 -1 TPP2 50_intron 32,.,. 1,.,. TPP2/intron/;TPP2/non_coding/ 1.0000 0.2106 0.2900 0 Immunodeficiency 78 with autoimmunity and developmental delay 0.000 recessive HG002 HG002 chr13:102663136:T:A 2,.,. -1 -1 -1 -1 -1 -1 TPP2 50_intron 32,.,. 1,.,. TPP2/intron/;TPP2/non_coding/ 1.0000 0.2106 0.2900 0 Immunodeficiency 78 with autoimmunity and developmental delay 0.000 recessive HG002 HG002 chr13:102663139:A:T 2,.,. 0.000364179 0 20 0.000700771 0 2 TPP2 50_intron 32,.,. 1,.,. TPP2/intron/;TPP2/non_coding/ 1.0000 0.2106 0.2900 0 Immunodeficiency 78 with autoimmunity and developmental delay 0.000 dominant HG002 HG002 chr13:102762989:C:A 1,.,. 6.99056e-06 0 1 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr13:102797565:A:AAATAATAAT 1,.,. -1 -1 -1 -1 -1 -1 POGLUT2 50_intron 28,.,. 0.464286,.,. POGLUT2/intron/;POGLUT2/non_coding/ 0.0000 0.8397 1.1330 6 dominant HG002 HG002 chr13:102886474:A:C 1,.,. -1 -1 -1 -1 -1 -1 METTL21EP 53_non_coding 51,.,. 0.529412,.,. METTL21EP/non_coding/ dominant HG002 HG002 chr13:103084159:G:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr13:103128249:G:T 1,.,. 1.31434e-05 0 2 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr13:103200187:G:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.560976,.,. recessive HG002 HG002 chr13:103458571:A:G 2,.,. 0.00040132 0 18 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr13:103548522:T:TTATCAC 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr13:103548526:A:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. dominant HG002 HG002 chr13:103583114:G:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.571429,.,. recessive HG002 HG002 chr13:103624856:TTTTCATAGC:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr13:103624866:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr13:103624867:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr13:103952195:T:C 1,.,. 2.62771e-05 0 4 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr13:104160105:G:A 1,.,. 1.97195e-05 0 3 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr13:104289453:C:A 1,.,. 2.63141e-05 0 4 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr13:104371664:A:ATAGGCT 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr13:104371665:G:T 1,.,. 6.59031e-06 0 1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr13:104371669:A:AATATT 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr13:104371670:T:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr13:104432175:G:T 1,.,. 2.63026e-05 0 4 -1 -1 -1 43,.,. 0.44186,.,. recessive HG002 HG002 chr13:104478894:T:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr13:104478897:G:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr13:104756308:A:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr13:104756316:A:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr13:104763755:A:T 2,.,. 0.00113464 0 3 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr13:104879971:T:A 1,.,. 2.62985e-05 0 4 -1 -1 -1 41,.,. 0.292683,.,. dominant HG002 HG002 chr13:104924089:ATTATTCC:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr13:104924099:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr13:104924100:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr13:105176438:C:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. recessive HG002 HG002 chr13:105382699:C:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. dominant HG002 HG002 chr13:106215664:G:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr13:106321167:C:T 1,.,. 6.57186e-06 0 1 -1 -1 -1 34,.,. 0.5,.,. recessive HG002 HG002 chr13:106814269:G:T 2,.,. -1 -1 -1 0.015417 0 44 37,.,. 1,.,. dominant HG002 HG002 chr13:106868053:G:T 1,.,. 2.62826e-05 0 4 -1 -1 -1 34,.,. 0.382353,.,. recessive HG002 HG002 chr13:106997892:C:T 2,.,. 0.00206478 2 314 0.00175193 0 5 45,.,. 1,.,. recessive HG002 HG002 chr13:107075637:C:T 2,.,. 0.00292885 4 446 0.00280308 0 8 41,.,. 1,.,. recessive HG002 HG002 chr13:107152121:C:T 2,.,. 0.0018483 1 281 0.00210231 0 6 41,.,. 1,.,. recessive HG002 HG002 chr13:107182253:C:T 2,.,. -1 -1 -1 0.00175193 1 5 FAM155A 50_intron 34,.,. 1,.,. FAM155A/intron/ recessive HG002 HG002 chr13:107204778:C:T 2,.,. 0.00300547 3 457 0.00315347 0 9 FAM155A 50_intron 36,.,. 1,.,. FAM155A/intron/ dominant HG002 HG002 chr13:107232548:T:C 1,.,. 1.97099e-05 0 3 -1 -1 -1 FAM155A 50_intron 33,.,. 0.545455,.,. FAM155A/intron/ dominant HG002 HG002 chr13:107305131:G:T 1,.,. 1.97138e-05 0 3 -1 -1 -1 FAM155A 50_intron 45,.,. 0.333333,.,. FAM155A/intron/ dominant HG002 HG002 chr13:107443160:T:TTATC 1,.,. -1 -1 -1 -1 -1 -1 FAM155A 50_intron 38,.,. 0.578947,.,. FAM155A/intron/ dominant HG002 HG002 chr13:107496726:T:A 1,.,. -1 -1 -1 -1 -1 -1 FAM155A 50_intron 38,.,. 0.473684,.,. FAM155A/intron/ dominant HG002 HG002 chr13:107496727:GGGGAAGC:G 1,.,. -1 -1 -1 -1 -1 -1 FAM155A 50_intron 36,.,. 0.5,.,. FAM155A/intron/ recessive HG002 HG002 chr13:107976594:T:TTAATGGCTACAAA 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr13:107976595:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr13:108071793:C:T 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.482143,.,. dominant HG002 HG002 chr13:108072127:C:T 1,.,. 6.57194e-06 0 1 -1 -1 -1 56,.,. 0.482143,.,. dominant HG002 HG002 chr13:108072483:A:T 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.490909,.,. dominant HG002 HG002 chr13:108112529:C:A 1,.,. 1.31645e-05 0 2 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr13:108116949:GGAATC:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr13:108116956:G:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr13:108351519:TTTTC:T 1,.,. 1.50006e-05 0 1 -1 -1 -1 46,.,. 0.413043,.,. dominant HG002 HG002 chr13:108351528:T:C 1,.,. 1.81179e-05 0 1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr13:108493990:C:CTGAG 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.659091,.,. dominant HG002 HG002 chr13:108493995:T:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.659091,.,. dominant HG002 HG002 chr13:108579111:G:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.42,.,. dominant HG002 HG002 chr13:108653893:C:A 1,.,. 1.31666e-05 0 2 -1 -1 -1 MYO16 50_intron 42,.,. 0.5,.,. MYO16/intron/ 0.0000 0.4743 0.5770 1 dominant HG002 HG002 chr13:108689148:T:C 1,.,. -1 -1 -1 -1 -1 -1 MYO16 50_intron 35,.,. 0.485714,.,. MYO16/intron/ 0.0000 0.4743 0.5770 1 dominant HG002 HG002 chr13:109022437:T:C 1,.,. -1 -1 -1 -1 -1 -1 MYO16 50_intron 32,.,. 0.4375,.,. MYO16/intron/;MYO16/non_coding/ 0.0000 0.4743 0.5770 1 dominant HG002 HG002 chr13:109022699:TATATA:T 1,.,. -1 -1 -1 -1 -1 -1 MYO16 50_intron 30,.,. 0.466667,.,. MYO16/intron/;MYO16/non_coding/ 0.0000 0.4743 0.5770 1 dominant HG002 HG002 chr13:109343942:CACTA:C 1,.,. 4.64511e-05 1 3 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr13:110148287:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr13:110198076:G:GGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 COL4A1 36_3_prime_utr 29,.,. 0.448276,.,. COL4A1/3_prime_utr/ENST00000647797 1.0000 0.1828 0.2380 0 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Brain small vessel disease 1 with or without ocular anomalies;Hemorrhage, intracerebral, susceptibility to;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0.000 recessive HG002 HG002 chr13:110474919:T:C 2,.,. 0.000436089 0 18 -1 -1 -1 COL4A2 50_intron 24,.,. 1,.,. COL4A2/intron/ 0.0000 0.5210 0.6180 2 Hemorrhage, intracerebral, susceptibility to;Porencephaly 2 0.000 recessive HG002 HG002 chr13:110474924:A:G 2,.,. -1 -1 -1 -1 -1 -1 COL4A2 50_intron 29,.,. 1,.,. COL4A2/intron/ 0.0000 0.5210 0.6180 2 Hemorrhage, intracerebral, susceptibility to;Porencephaly 2 0.000 recessive HG002 HG002 chr13:110638917:T:C 2,.,. 0.000196007 0 13 -1 -1 -1 NAXD 36_3_prime_utr 35,.,. 1,.,. NAXD/3_prime_utr/ENST00000309957;NAXD/3_prime_utr/ENST00000424185 0.0016 0.5617 0.8430 3 NAD(P)HX dehydratase deficiency 0.000 dominant HG002 HG002 chr13:110958016:G:GAATCA 1,.,. -1 -1 -1 -1 -1 -1 AL442128.1 53_non_coding 35,.,. 0.342857,.,. AL442128.1/non_coding/ dominant HG002 HG002 chr13:110958017:T:C 1,.,. -1 -1 -1 -1 -1 -1 AL442128.1 53_non_coding 36,.,. 0.361111,.,. AL442128.1/non_coding/ dominant HG002 HG002 chr13:111003701:T:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. recessive HG002 HG002 chr13:111192720:G:A 2,.,. -1 -1 -1 -1 -1 -1 ARHGEF7 50_intron 28,.,. 1,.,. ARHGEF7/intron/ 0.7761 0.3843 0.5300 1 recessive HG002 HG002 chr13:111192721:G:T 2,.,. -1 -1 -1 -1 -1 -1 ARHGEF7 50_intron 28,.,. 1,.,. ARHGEF7/intron/ 0.7761 0.3843 0.5300 1 recessive HG002 HG002 chr13:111192723:T:C 2,.,. -1 -1 -1 -1 -1 -1 ARHGEF7 50_intron 28,.,. 1,.,. ARHGEF7/intron/ 0.7761 0.3843 0.5300 1 recessive HG002 HG002 chr13:111192726:C:T 2,.,. -1 -1 -1 -1 -1 -1 ARHGEF7 50_intron 28,.,. 1,.,. ARHGEF7/intron/ 0.7761 0.3843 0.5300 1 dominant HG002 HG002 chr13:111649519:A:G 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.521739,.,. dominant HG002 HG002 chr13:111649520:T:A 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.541667,.,. dominant HG002 HG002 chr13:111670631:G:A 1,.,. -1 -1 -1 0.00105116 0 3 19,.,. 0.526316,.,. dominant HG002 HG002 chr13:112056627:G:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr13:112199330:T:TCTGGAGCTGGTGACTAGGGTGGCATTGCTGC 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr13:112335365:C:T 1,.,. 3.60601e-05 0 4 -1 -1 -1 25,.,. 0.32,.,. recessive HG002 HG002 chr13:112457421:GTCCCTA:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr13:112457430:A:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr13:112487083:C:G 1,.,. -1 -1 -1 0.000700771 0 2 TUBGCP3 50_intron 38,.,. 0.289474,.,. TUBGCP3/intron/;TUBGCP3/non_coding/ 0.6702 0.3960 0.5120 1 recessive HG002 HG002 chr13:113033423:C:CCCCTGTGACATTAGTGGA 2,.,. -1 -1 -1 -1 -1 -1 MCF2L 50_intron 28,.,. 1,.,. MCF2L/intron/ 0.0000 0.6459 0.7700 3 recessive HG002 HG002 chr13:113033431:A:G 2,.,. -1 -1 -1 0.0262789 4 75 MCF2L 50_intron 29,.,. 1,.,. MCF2L/intron/ 0.0000 0.6459 0.7700 3 dominant HG002 HG002 chr13:113232046:T:TACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACC 1,.,. -1 -1 -1 0.000700771 0 2 CUL4A 50_intron 32,.,. 0.46875,.,. CUL4A/intron/;CUL4A/non_coding/ 1.0000 0.1855 0.3240 0 dominant HG002 HG002 chr13:113232064:A:ACTG 1,.,. 3.47158e-05 0 3 -1 -1 -1 CUL4A 50_intron 33,.,. 0.484848,.,. CUL4A/intron/;CUL4A/non_coding/ 1.0000 0.1855 0.3240 0 dominant HG002 HG002 chr13:113439368:C:T 1,.,. 2.6285e-05 0 4 -1 -1 -1 ADPRHL1 50_intron 17,.,. 0.647059,.,. ADPRHL1/intron/ 0.0000 0.9800 1.2640 7 dominant HG002 HG002 chr13:113498897:CAG:C 1,.,. -1 -1 -1 -1 -1 -1 TMCO3 50_intron 25,.,. 0.52,.,. TMCO3/intron/ 0.0000 0.8235 1.0560 5 dominant HG002 HG002 chr13:113498903:T:G 1,.,. -1 -1 -1 -1 -1 -1 TMCO3 50_intron 24,.,. 0.541667,.,. TMCO3/intron/ 0.0000 0.8235 1.0560 5 dominant HG002 HG002 chr13:113509206:G:C 1,.,. -1 -1 -1 -1 -1 -1 TMCO3 50_intron 26,.,. 0.384615,.,. TMCO3/intron/ 0.0000 0.8235 1.0560 5 dominant HG002 HG002 chr13:113543288:C:CGTGACCCCCACCTCCTCCCCCTGACCCCCTGCCCTCCCTCTGTCCGTGACCCCCTCCTCCCCCTGTGCCCCACCCTCCCTGTGT 1,.,. -1 -1 -1 0.00140154 0 4 TMCO3 50_intron 10,.,. 0.7,.,. TMCO3/intron/ 0.0000 0.8235 1.0560 5 dominant HG002 HG002 chr13:113730285:T:C 1,.,. -1 -1 -1 -1 -1 -1 GRK1 50_intron 23,.,. 0.565217,.,. GRK1/intron/;GRK1/non_coding/ 0.0000 0.7355 1.1030 6 Oguchi disease-2 0.000 dominant HG002 HG002 chr13:113730293:C:A 1,.,. -1 -1 -1 -1 -1 -1 GRK1 50_intron 25,.,. 0.6,.,. GRK1/intron/;GRK1/non_coding/ 0.0000 0.7355 1.1030 6 Oguchi disease-2 0.000 dominant HG002 HG002 chr13:113757454:G:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr13:113757455:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr13:113757456:A:G 1,.,. 2.19401e-05 0 3 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr13:113757457:T:C 1,.,. 6.92233e-06 0 1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr13:113807574:C:G 1,.,. -1 -1 -1 -1 -1 -1 TMEM255B 50_intron 17,.,. 0.294118,.,. TMEM255B/intron/;TMEM255B/non_coding/ 0.0000 1.0244 1.3530 7 dominant HG002 HG002 chr13:113956347:TATCTGGTGGAGAGGAGG:T 1,.,. -1 -1 -1 -1 -1 -1 C13orf46 36_3_prime_utr 22,.,. 0.545455,.,. C13orf46/3_prime_utr/ENST00000636427 dominant HG002 HG002 chr13:113956367:C:T 1,.,. 1.67054e-05 0 2 -1 -1 -1 C13orf46 36_3_prime_utr 22,.,. 0.545455,.,. C13orf46/3_prime_utr/ENST00000636427 dominant HG002 HG002 chr13:114004237:A:G 1,.,. -1 -1 -1 -1 -1 -1 RASA3 50_intron 12,.,. 0.583333,.,. RASA3/intron/ 0.0000 0.6623 0.8130 3 dominant HG002 HG002 chr13:114020144:G:GC 1,.,. -1 -1 -1 -1 -1 -1 RASA3 50_intron 20,.,. 0.45,.,. RASA3/intron/ 0.0000 0.6623 0.8130 3 dominant HG002 HG002 chr13:114084487:G:T 1,.,. -1 -1 -1 0.00140154 0 4 RASA3 50_intron 20,.,. 0.45,.,. RASA3/intron/ 0.0000 0.6623 0.8130 3 recessive HG002 HG002 chr14:16034230:T:C 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr14:16034791:T:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr14:16053597:A:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr14:16053664:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr14:16053684:T:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr14:16053685:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr14:16053693:T:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr14:16053720:T:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr14:16053729:A:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr14:16053769:C:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr14:16053772:G:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr14:16053786:G:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr14:16053800:A:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr14:16053813:T:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr14:16053855:G:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. dominant HG002 HG002 chr14:16095743:G:A 1,.,. -1 -1 -1 0.00105116 0 3 24,.,. 0.458333,.,. dominant HG002 HG002 chr14:18415703:A:G 1,.,. -1 -1 -1 0.000700771 0 2 41,.,. 0.487805,.,. dominant HG002 HG002 chr14:18493133:C:T 1,.,. -1 -1 -1 0.000700771 0 2 34,.,. 0.617647,.,. recessive HG002 HG002 chr14:18976791:T:G 2,.,. -1 -1 -1 -1 -1 -1 POTEM 50_intron 96,.,. 1,.,. POTEM/intron/ 0.9731 0.0000 0.3470 0 recessive HG002 HG002 chr14:18976792:G:T 2,.,. -1 -1 -1 -1 -1 -1 POTEM 50_intron 97,.,. 0.989691,.,. POTEM/intron/ 0.9731 0.0000 0.3470 0 recessive HG002 HG002 chr14:18976794:T:G 2,.,. -1 -1 -1 -1 -1 -1 POTEM 50_intron 98,.,. 1,.,. POTEM/intron/ 0.9731 0.0000 0.3470 0 recessive HG002 HG002 chr14:19625389:ACACTTGC:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr14:19630670:AAT:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr14:19630674:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chr14:20037135:T:TTTC 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.203704,.,. recessive HG002 HG002 chr14:20082394:T:TTTATTA 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr14:20134394:G:GCTCA 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr14:20134395:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr14:20145926:G:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr14:20145927:G:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr14:20145929:A:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr14:20505461:G:A 1,.,. 1.42426e-05 0 1 -1 -1 -1 26,.,. 0.653846,.,. dominant HG002 HG002 chr14:20633083:C:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.352941,.,. dominant HG002 HG002 chr14:20667003:A:AAAAAAAC 1,.,. 3.45686e-05 0 1 0.00140154 0 4 39,.,. 0.538462,.,. dominant HG002 HG002 chr14:20735463:G:GGAGTTTAC 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.431818,.,. dominant HG002 HG002 chr14:20735465:T:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr14:20863575:C:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.793103,.,. recessive HG002 HG002 chr14:21910773:AGATATTC:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr14:21910781:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr14:22007898:AAGGT:A 1,.,. -1 -1 -1 -1 -1 -1 TRAV19 03_stop_gained 44,.,. 0.681818,.,. TRAV19/stop_gained&frameshift/ENST00000390447 dominant HG002 HG002 chr14:22007907:C:T 1,.,. -1 -1 -1 -1 -1 -1 TRAV19 03_stop_gained 43,.,. 0.674419,.,. TRAV19/stop_gained/ENST00000390447 dominant HG002 HG002 chr14:22007908:A:C 1,.,. -1 -1 -1 -1 -1 -1 TRAV19 14_missense 43,.,. 0.674419,.,. TRAV19/missense/ENST00000390447 dominant HG002 HG002 chr14:22152433:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.428571,.,. dominant HG002 HG002 chr14:22152438:T:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.428571,.,. dominant HG002 HG002 chr14:22355853:G:GTA 1,.,. 1.32324e-05 0 1 -1 -1 -1 39,.,. 0.589744,.,. recessive HG002 HG002 chr14:22641311:G:GAA 2,.,. 0.0033402 0 107 -1 -1 -1 OR6J1 50_intron 18,.,. 1,.,. OR6J1/intron/ recessive HG002 HG002 chr14:22641322:G:A 2,.,. 0.000112141 1 3 0.00140154 0 4 OR6J1 50_intron 18,.,. 1,.,. OR6J1/intron/ recessive HG002 HG002 chr14:22641323:A:G 2,.,. 3.39311e-05 1 4 0.00175193 0 5 OR6J1 50_intron 18,.,. 1,.,. OR6J1/intron/ dominant HG002 HG002 chr14:22651149:C:T 1,.,. 1.3152e-05 0 2 0.000700771 0 2 32,.,. 0.40625,.,. recessive HG002 HG002 chr14:22703960:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr14:22703963:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr14:22703996:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chr14:22728152:AAC:A 1,.,. -1 -1 -1 -1 -1 -1 AL160314.2 53_non_coding 28,.,. 0.464286,.,. AL160314.2/non_coding/ dominant HG002 HG002 chr14:22775246:G:C 1,.,. -1 -1 -1 -1 -1 -1 SLC7A7 50_intron 33,.,. 0.515152,.,. SLC7A7/intron/;SLC7A7/non_coding/ 0.0000 0.7686 1.0070 5 Lysinuric protein intolerance 0.000 dominant HG002 HG002 chr14:22775247:TGTACCATTCCTTAGAG:T 1,.,. -1 -1 -1 -1 -1 -1 SLC7A7 50_intron 34,.,. 0.529412,.,. SLC7A7/intron/;SLC7A7/non_coding/ 0.0000 0.7686 1.0070 5 Lysinuric protein intolerance 0.000 dominant HG002 HG002 chr14:23003888:ATATATATATATTTTTTTTTT:A 1,.,. -1 -1 -1 -1 -1 -1 C14orf93 50_intron 28,.,. 0.285714,.,. C14orf93/intron/;C14orf93/non_coding/ 0.0012 0.5177 0.7340 2 dominant HG002 HG002 chr14:23399005:C:T 1,.,. -1 -1 -1 -1 -1 -1 MYH6 30_synonymous 23,.,. 0.391304,.,. MYH6/synonymous/ENST00000405093 0.0000 0.5462 0.6340 2 Hypertrophic cardiomyopathy 1;Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3;Hypertrophic cardiomyopathy 14;Primary dilated cardiomyopathy;Dilated cardiomyopathy 1EE 0.000 dominant HG002 HG002 chr14:23708437:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.368421,.,. dominant HG002 HG002 chr14:23736941:C:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chr14:24664337:T:G 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.403846,.,. dominant HG002 HG002 chr14:24664338:A:G 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.403846,.,. dominant HG002 HG002 chr14:24664339:C:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.403846,.,. dominant HG002 HG002 chr14:24690399:G:A 1,.,. 1.97231e-05 0 3 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr14:24757598:TATGA:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr14:24840998:T:A 1,.,. -1 -1 -1 -1 -1 -1 STXBP6 50_intron 37,.,. 0.540541,.,. STXBP6/intron/ 0.0000 0.7766 1.1180 6 dominant HG002 HG002 chr14:25463130:C:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr14:25866958:T:A 1,.,. -1 -1 -1 0.00105116 0 3 34,.,. 0.352941,.,. dominant HG002 HG002 chr14:26335315:C:G 1,.,. 2.34251e-05 0 3 -1 -1 -1 46,.,. 0.521739,.,. recessive HG002 HG002 chr14:26341231:T:C 2,.,. -1 -1 -1 0.00560617 4 16 40,.,. 1,.,. recessive HG002 HG002 chr14:26341232:G:A 2,.,. -1 -1 -1 0.00455501 4 13 40,.,. 1,.,. dominant HG002 HG002 chr14:26386233:CATTACTTTGATATTCCACACATTTTATAAGCAAACATTTA:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr14:26386274:T:C 1,.,. 1.31418e-05 0 2 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr14:26468916:G:A 1,.,. 1.31586e-05 0 2 -1 -1 -1 NOVA1 50_intron 41,.,. 0.487805,.,. NOVA1/intron/ 0.9997 0.2011 0.3780 0 dominant HG002 HG002 chr14:26593321:G:A 1,.,. 6.5884e-06 0 1 -1 -1 -1 NOVA1 50_intron 31,.,. 0.451613,.,. NOVA1/intron/;NOVA1/non_coding/ 0.9997 0.2011 0.3780 0 dominant HG002 HG002 chr14:26823098:C:G 1,.,. 1.31524e-05 0 2 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr14:26880797:T:TTTTC 1,.,. 2.63224e-05 0 4 -1 -1 -1 46,.,. 0.413043,.,. dominant HG002 HG002 chr14:27070730:C:T 1,.,. 1.97764e-05 0 3 -1 -1 -1 50,.,. 0.62,.,. recessive HG002 HG002 chr14:27183285:CACAT:C 2,.,. 0.00111193 0 9 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr14:27183291:C:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. dominant HG002 HG002 chr14:27299156:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 AL390334.1 53_non_coding 44,.,. 0.5,.,. AL390334.1/non_coding/ dominant HG002 HG002 chr14:27360297:C:T 1,.,. 6.57436e-06 0 1 -1 -1 -1 AL390334.1 53_non_coding 46,.,. 0.5,.,. AL390334.1/non_coding/ dominant HG002 HG002 chr14:27386772:C:T 1,.,. -1 -1 -1 -1 -1 -1 AL390334.1 53_non_coding 50,.,. 0.38,.,. AL390334.1/non_coding/ dominant HG002 HG002 chr14:27450510:G:T 1,.,. -1 -1 -1 -1 -1 -1 AL390334.1 53_non_coding 46,.,. 0.478261,.,. AL390334.1/non_coding/ recessive HG002 HG002 chr14:27547167:A:ATCGAT 2,.,. -1 -1 -1 -1 -1 -1 AL390334.1 53_non_coding 50,.,. 1,.,. AL390334.1/non_coding/ recessive HG002 HG002 chr14:27547168:C:A 2,.,. -1 -1 -1 -1 -1 -1 AL390334.1 53_non_coding 50,.,. 1,.,. AL390334.1/non_coding/ dominant HG002 HG002 chr14:27564469:T:G 1,.,. 1.23268e-05 0 1 -1 -1 -1 AL390334.1 53_non_coding 48,.,. 0.5,.,. AL390334.1/non_coding/ dominant HG002 HG002 chr14:27674484:C:A 1,.,. 1.37701e-05 0 2 -1 -1 -1 AL390334.1 53_non_coding 46,.,. 0.478261,.,. AL390334.1/non_coding/ dominant HG002 HG002 chr14:27890008:CA:C 1,.,. 6.57791e-06 0 1 -1 -1 -1 58,.,. 0.448276,.,. dominant HG002 HG002 chr14:27894957:C:CT 1,.,. 6.60869e-06 0 1 -1 -1 -1 50,.,. 0.5,.,. dominant HG002 HG002 chr14:27958391:AGATAGATAGATAG:A 1,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.366667,.,. dominant HG002 HG002 chr14:28125626:G:T 1,.,. 6.57635e-06 0 1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr14:28261564:C:T 1,.,. 1.97169e-05 0 3 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr14:28414950:G:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.583333,.,. dominant HG002 HG002 chr14:28442123:T:A 1,.,. 6.57151e-06 0 1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr14:28490643:A:C 1,.,. 6.57065e-06 0 1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr14:28714700:A:G 1,.,. 1.97094e-05 0 3 0.000700771 0 2 55,.,. 0.454545,.,. dominant HG002 HG002 chr14:28730457:C:T 1,.,. 2.62985e-05 0 4 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr14:29128709:A:G 1,.,. 6.57661e-06 0 1 -1 -1 -1 58,.,. 0.5,.,. dominant HG002 HG002 chr14:29493208:G:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr14:29766153:G:C 1,.,. 1.31428e-05 0 2 -1 -1 -1 PRKD1 50_intron 37,.,. 0.594595,.,. PRKD1/intron/ 0.0000 0.5995 0.7620 3 Congenital heart defects and ectodermal dysplasia 0.000 dominant HG002 HG002 chr14:30003940:C:A 1,.,. 1.31442e-05 0 2 -1 -1 -1 PRKD1 50_intron 55,.,. 0.545455,.,. PRKD1/intron/ 0.0000 0.5995 0.7620 3 Congenital heart defects and ectodermal dysplasia 0.000 dominant HG002 HG002 chr14:30041360:G:C 1,.,. -1 -1 -1 -1 -1 -1 PRKD1 50_intron 34,.,. 0.441176,.,. PRKD1/intron/ 0.0000 0.5995 0.7620 3 Congenital heart defects and ectodermal dysplasia 0.000 recessive HG002 HG002 chr14:30213929:T:G 2,.,. 8.53082e-06 0 1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr14:30517302:C:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr14:30517303:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. dominant HG002 HG002 chr14:30872289:AGTAC:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.604167,.,. dominant HG002 HG002 chr14:30872294:G:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.604167,.,. dominant HG002 HG002 chr14:31013878:A:T 1,.,. -1 -1 -1 -1 -1 -1 STRN3 50_intron 42,.,. 0.47619,.,. STRN3/intron/ 1.0000 0.2987 0.4170 1 dominant HG002 HG002 chr14:31208943:T:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.365854,.,. recessive HG002 HG002 chr14:31353818:GAGATGGA:G 2,.,. -1 -1 -1 -1 -1 -1 HEATR5A;AL139353.1 50_intron 39,.,. 1,.,. HEATR5A/intron/;AL139353.1/intron/ 0.0000 0.7701 0.8980 4 recessive HG002 HG002 chr14:31353826:G:C 2,.,. -1 -1 -1 -1 -1 -1 HEATR5A;AL139353.1 50_intron 39,.,. 1,.,. HEATR5A/intron/;AL139353.1/intron/ 0.0000 0.7701 0.8980 4 recessive HG002 HG002 chr14:31353827:T:A 2,.,. -1 -1 -1 -1 -1 -1 HEATR5A;AL139353.1 50_intron 39,.,. 1,.,. HEATR5A/intron/;AL139353.1/intron/ 0.0000 0.7701 0.8980 4 recessive HG002 HG002 chr14:31809844:A:AAACT 2,.,. -1 -1 -1 -1 -1 -1 NUBPL 50_intron 33,.,. 1,.,. NUBPL/intron/;NUBPL/non_coding/ 0.0004 0.6044 0.8960 4 Mitochondrial complex 1 deficiency, nuclear type 21 0.000 recessive HG002 HG002 chr14:31809846:T:C 2,.,. 1.9774e-05 0 3 -1 -1 -1 NUBPL 50_intron 34,.,. 1,.,. NUBPL/intron/;NUBPL/non_coding/ 0.0004 0.6044 0.8960 4 Mitochondrial complex 1 deficiency, nuclear type 21 0.000 dominant HG002 HG002 chr14:31980730:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr14:31980734:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr14:32113380:C:CTCCCCTCCCCTTGTTATATGTATGGATTATAATTTGACTGTCA 1,.,. -1 -1 -1 0.000700771 0 2 ARHGAP5 50_intron 48,.,. 0.416667,.,. ARHGAP5/intron/ 1.0000 0.2050 0.2950 0 dominant HG002 HG002 chr14:32214326:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.621622,.,. dominant HG002 HG002 chr14:32304006:G:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr14:32462067:A:G 1,.,. 1.31451e-05 0 2 -1 -1 -1 AKAP6 50_intron 30,.,. 0.566667,.,. AKAP6/intron/ 1.0000 0.2939 0.3670 0 dominant HG002 HG002 chr14:32694738:CCAGGCACACCTTA:C 1,.,. -1 -1 -1 -1 -1 -1 AKAP6 50_intron 45,.,. 0.577778,.,. AKAP6/intron/;AKAP6/non_coding/ 1.0000 0.2939 0.3670 0 dominant HG002 HG002 chr14:32922766:CATGTAATACTACCAATAATAACTTTTCCATGGAAGTACGTTTGCATGTCAGAGACTGTGCTAAACACTTCATATTGCTTACCTTGTTTCATCTTTATAATAACCCTGTGAGGTATCTTTTCTGACTTTTACACATACTTGTTCATTGGTATCTCCTCTTACCTCTAGTGAAAGCTTTGATGACGAACAGGGGCTTCGTTTTATACCCTACTGTAGCCCTGCTGCTTAAAAGAATACTTGGCGGCCAGGTGCGGTGGCTCAAGCCTGTAATCCCAACACTTTGGGAGGCGGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACGACCATCCT:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.651163,.,. dominant HG002 HG002 chr14:32941305:C:CTCCTTCCT 1,.,. -1 -1 -1 -1 -1 -1 NPAS3 50_intron 31,.,. 0.354839,.,. NPAS3/intron/ 1.0000 0.1588 0.2860 0 dominant HG002 HG002 chr14:32959033:CA:C 1,.,. -1 -1 -1 -1 -1 -1 NPAS3 50_intron 36,.,. 0.472222,.,. NPAS3/intron/ 1.0000 0.1588 0.2860 0 dominant HG002 HG002 chr14:33010955:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 NPAS3 50_intron 36,.,. 0.25,.,. NPAS3/intron/ 1.0000 0.1588 0.2860 0 dominant HG002 HG002 chr14:33347531:G:A 1,.,. -1 -1 -1 -1 -1 -1 NPAS3 50_intron 42,.,. 0.547619,.,. NPAS3/intron/;NPAS3/non_coding/ 1.0000 0.1588 0.2860 0 dominant HG002 HG002 chr14:33890483:C:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.613636,.,. dominant HG002 HG002 chr14:34246226:TGCGG:T 1,.,. -1 -1 -1 -1 -1 -1 EGLN3 53_non_coding 43,.,. 0.534884,.,. EGLN3/non_coding/ 0.0357 0.4937 0.8000 3 dominant HG002 HG002 chr14:34246235:C:G 1,.,. -1 -1 -1 -1 -1 -1 EGLN3 53_non_coding 44,.,. 0.545455,.,. EGLN3/non_coding/ 0.0357 0.4937 0.8000 3 dominant HG002 HG002 chr14:34399243:T:C 1,.,. 3.67485e-05 0 3 -1 -1 -1 EGLN3 53_non_coding 52,.,. 0.519231,.,. EGLN3/non_coding/ 0.0357 0.4937 0.8000 3 dominant HG002 HG002 chr14:34470377:CAAAAAAAA:C 1,.,. -1 -1 -1 0.00140154 0 4 21,.,. 0.666667,.,. dominant HG002 HG002 chr14:34585915:T:C 1,.,. 2.04196e-05 0 3 -1 -1 -1 SNX6 50_intron 27,.,. 0.481481,.,. SNX6/intron/;SNX6/non_coding/ 0.0119 0.5190 0.8110 3 dominant HG002 HG002 chr14:35014290:T:G 1,.,. -1 -1 -1 0.000700771 0 2 SRP54 50_intron 33,.,. 0.333333,.,. SRP54/intron/ 1.0000 0.1540 0.3040 0 Neutropenia, severe congenital, 8, autosomal dominant;Shwachman syndrome;Shwachman-Diamond syndrome 1 0.000 dominant HG002 HG002 chr14:35240313:T:TTTG 1,.,. -1 -1 -1 -1 -1 -1 PRORP;AL121594.1 50_intron 30,.,. 0.533333,.,. PRORP/intron/;AL121594.1/intron/ 0.0000 0.7620 0.9990 5 Combined oxidative phosphorylation deficiency 54 0.000 dominant HG002 HG002 chr14:35373331:A:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr14:35373333:GAAAAGA:G 1,.,. 1.48131e-05 0 2 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr14:35380483:A:G 1,.,. 1.97148e-05 0 3 -1 -1 -1 26,.,. 0.269231,.,. dominant HG002 HG002 chr14:35730540:G:GACTC 1,.,. -1 -1 -1 -1 -1 -1 RALGAPA1 50_intron 40,.,. 0.475,.,. RALGAPA1/intron/;RALGAPA1/non_coding/ 1.0000 0.2172 0.2920 0 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 0.000 dominant HG002 HG002 chr14:35730541:G:A 1,.,. -1 -1 -1 -1 -1 -1 RALGAPA1 50_intron 42,.,. 0.47619,.,. RALGAPA1/intron/;RALGAPA1/non_coding/ 1.0000 0.2172 0.2920 0 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 0.000 dominant HG002 HG002 chr14:35952736:C:T 1,.,. 1.97151e-05 0 3 -1 -1 -1 43,.,. 0.627907,.,. dominant HG002 HG002 chr14:36063278:C:T 1,.,. 2.62988e-05 0 4 -1 -1 -1 56,.,. 0.428571,.,. dominant HG002 HG002 chr14:36081064:G:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.382979,.,. dominant HG002 HG002 chr14:36266347:C:T 1,.,. 1.97239e-05 0 3 -1 -1 -1 37,.,. 0.594595,.,. dominant HG002 HG002 chr14:36333649:A:G 1,.,. 1.97189e-05 0 3 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr14:36337372:A:G 1,.,. 1.97109e-05 0 3 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr14:36407779:A:T 1,.,. 2.01767e-05 0 1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr14:36411178:GCTGA:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr14:36411183:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr14:36487466:A:C 1,.,. -1 -1 -1 -1 -1 -1 SFTA3 50_intron 41,.,. 0.487805,.,. SFTA3/intron/;SFTA3/non_coding/ dominant HG002 HG002 chr14:36548586:A:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.612245,.,. dominant HG002 HG002 chr14:36548587:T:TATA 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.612245,.,. dominant HG002 HG002 chr14:36573787:G:T 1,.,. 1.97166e-05 0 3 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr14:37556156:T:G 1,.,. 0.000126119 0 4 -1 -1 -1 48,.,. 0.5625,.,. dominant HG002 HG002 chr14:37556157:G:GGCAGAGGCTGCAAT 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5625,.,. dominant HG002 HG002 chr14:37668608:A:T 1,.,. -1 -1 -1 -1 -1 -1 TTC6 50_intron 36,.,. 0.444444,.,. TTC6/intron/ 0.0000 0.8147 0.9450 4 dominant HG002 HG002 chr14:37687671:G:A 1,.,. 2.62864e-05 0 4 -1 -1 -1 TTC6 50_intron 37,.,. 0.459459,.,. TTC6/intron/ 0.0000 0.8147 0.9450 4 dominant HG002 HG002 chr14:38065381:C:G 1,.,. 1.31428e-05 0 2 -1 -1 -1 44,.,. 0.636364,.,. dominant HG002 HG002 chr14:38264848:G:T 1,.,. 6.57652e-06 0 1 -1 -1 -1 49,.,. 0.489796,.,. dominant HG002 HG002 chr14:38362715:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.394737,.,. dominant HG002 HG002 chr14:38750387:G:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.442308,.,. dominant HG002 HG002 chr14:39002796:C:T 1,.,. 6.57341e-06 0 1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr14:39058123:C:CTGTT 1,.,. 1.31527e-05 0 2 -1 -1 -1 SEC23A 50_intron 37,.,. 0.594595,.,. SEC23A/intron/ 0.0000 0.5340 0.7080 2 Craniolenticulosutural dysplasia 0.000 dominant HG002 HG002 chr14:39104167:TGA:T 1,.,. -1 -1 -1 -1 -1 -1 SEC23A 50_intron 29,.,. 0.551724,.,. SEC23A/intron/ 0.0000 0.5340 0.7080 2 Craniolenticulosutural dysplasia 0.000 dominant HG002 HG002 chr14:39104173:A:T 1,.,. -1 -1 -1 -1 -1 -1 SEC23A 50_intron 28,.,. 0.535714,.,. SEC23A/intron/ 0.0000 0.5340 0.7080 2 Craniolenticulosutural dysplasia 0.000 dominant HG002 HG002 chr14:39104174:T:C 1,.,. -1 -1 -1 -1 -1 -1 SEC23A 50_intron 29,.,. 0.551724,.,. SEC23A/intron/ 0.0000 0.5340 0.7080 2 Craniolenticulosutural dysplasia 0.000 recessive HG002 HG002 chr14:39277742:ATGTGTG:A 2,.,. 0.0122888 2 32 -1 -1 -1 MIA2 50_intron 14,.,. 1,.,. MIA2/intron/;MIA2/non_coding/ 0.0000 0.7118 0.8740 4 recessive HG002 HG002 chr14:39300965:C:T 2,.,. -1 -1 -1 -1 -1 -1 MIA2 50_intron 34,.,. 1,.,. MIA2/intron/ 0.0000 0.7118 0.8740 4 dominant HG002 HG002 chr14:39509446:T:TATAC 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.325,.,. dominant HG002 HG002 chr14:39695473:C:A 1,.,. 3.1407e-05 0 2 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr14:39712404:T:TGGGAC 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.413043,.,. dominant HG002 HG002 chr14:39858962:G:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr14:40019390:A:C 1,.,. 1.97444e-05 0 3 -1 -1 -1 51,.,. 0.490196,.,. dominant HG002 HG002 chr14:40257238:A:G 1,.,. 1.31479e-05 0 2 -1 -1 -1 54,.,. 0.555556,.,. dominant HG002 HG002 chr14:40446166:A:ATGGGAGG 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.431818,.,. dominant HG002 HG002 chr14:40446167:A:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr14:40446169:A:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr14:40446171:T:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr14:40458911:T:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.530612,.,. dominant HG002 HG002 chr14:40567774:G:C 1,.,. 1.97384e-05 0 3 -1 -1 -1 64,.,. 0.515625,.,. dominant HG002 HG002 chr14:40657699:A:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr14:40701142:G:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr14:40754881:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr14:40844319:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.414634,.,. recessive HG002 HG002 chr14:40907551:A:ATCTTCTAGATATAAAATATACAATGCAATTTTATCTTCTAGATGTTCTGAGCTATTTTCCAACTAAGACGTCTCTTTAACCTGTAACAGTTAACTACTTTAAGGTGGAGCTTTTAAGAGTATGTTTTCAGAATCTAAGTGAAAATGT 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr14:40975791:G:C 1,.,. 2.63134e-05 0 4 -1 -1 -1 50,.,. 0.52,.,. dominant HG002 HG002 chr14:40991715:A:T 1,.,. -1 -1 -1 -1 -1 -1 64,.,. 0.40625,.,. dominant HG002 HG002 chr14:40993478:T:A 1,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.555556,.,. dominant HG002 HG002 chr14:41046659:T:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.395833,.,. recessive HG002 HG002 chr14:41110808:A:C 2,.,. 9.24459e-05 0 14 0.0112123 0 32 47,.,. 1,.,. recessive HG002 HG002 chr14:41118000:GACATGATCTTA:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr14:41118012:T:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr14:41150435:G:C 1,.,. 2.1063e-05 0 3 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr14:41156355:A:G 1,.,. 7.00673e-06 0 1 -1 -1 -1 52,.,. 0.442308,.,. dominant HG002 HG002 chr14:41181619:T:G 1,.,. 2.78687e-05 0 4 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr14:41271428:C:CATTCATTTATTTATTT 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.365854,.,. dominant HG002 HG002 chr14:41361791:TA:T 1,.,. 2.66425e-05 0 4 -1 -1 -1 49,.,. 0.489796,.,. dominant HG002 HG002 chr14:41456352:T:A 1,.,. 1.97257e-05 0 3 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr14:41754232:T:C 1,.,. -1 -1 -1 -1 -1 -1 LRFN5 50_intron 42,.,. 0.357143,.,. LRFN5/intron/;LRFN5/non_coding/ 0.1695 0.4240 0.6290 2 dominant HG002 HG002 chr14:41754233:G:T 1,.,. -1 -1 -1 -1 -1 -1 LRFN5 50_intron 42,.,. 0.357143,.,. LRFN5/intron/;LRFN5/non_coding/ 0.1695 0.4240 0.6290 2 dominant HG002 HG002 chr14:41754234:T:G 1,.,. -1 -1 -1 -1 -1 -1 LRFN5 50_intron 43,.,. 0.348837,.,. LRFN5/intron/;LRFN5/non_coding/ 0.1695 0.4240 0.6290 2 dominant HG002 HG002 chr14:41841340:T:A 1,.,. 1.97517e-05 0 3 -1 -1 -1 LRFN5 50_intron 43,.,. 0.372093,.,. LRFN5/intron/ 0.1695 0.4240 0.6290 2 recessive HG002 HG002 chr14:41946218:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr14:41960481:T:G 1,.,. 2.63068e-05 0 4 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr14:42315644:C:T 1,.,. 2.62767e-05 0 4 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr14:42429339:A:G 1,.,. 2.63584e-05 0 4 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr14:42435736:TTA:T 1,.,. 5.18403e-05 0 2 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr14:42435739:T:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr14:42485010:A:G 1,.,. 2.62864e-05 0 4 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr14:42567429:T:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr14:42669047:A:G 1,.,. 1.97047e-05 0 3 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr14:42684057:T:A 1,.,. 1.97094e-05 0 3 -1 -1 -1 54,.,. 0.555556,.,. dominant HG002 HG002 chr14:42745749:T:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.358974,.,. dominant HG002 HG002 chr14:42745751:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.358974,.,. dominant HG002 HG002 chr14:42894184:A:C 1,.,. 1.97195e-05 0 3 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr14:42911839:CTG:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr14:42911845:A:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr14:42911846:G:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr14:42930679:AACAAT:A 1,.,. 1.96912e-05 0 3 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr14:43060969:T:C 1,.,. 2.62705e-05 0 4 -1 -1 -1 34,.,. 0.441176,.,. recessive HG002 HG002 chr14:43089762:A:G 2,.,. 0.0104962 0 11 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr14:43089763:G:A 2,.,. 0.0108696 0 11 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr14:43093657:G:GGTA 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr14:43093658:A:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr14:43250532:C:T 1,.,. 6.57566e-06 0 1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr14:43251877:G:C 1,.,. 2.6338e-05 0 4 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr14:43359035:T:G 1,.,. 1.9698e-05 0 3 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr14:43370595:G:A 1,.,. 2.62667e-05 0 4 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr14:43613264:A:G 1,.,. 1.96985e-05 0 3 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr14:43889239:G:GCTTTAGCACACACA 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr14:43889241:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr14:44198654:GTGTGTGTGTGTGTA:G 1,.,. 2.83262e-05 0 2 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr14:44643520:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.372093,.,. dominant HG002 HG002 chr14:44671276:G:A 1,.,. 2.63182e-05 0 4 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr14:44721891:T:G 1,.,. 6.5741e-06 0 1 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr14:44761384:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.384615,.,. dominant HG002 HG002 chr14:44874547:C:CACACACAGAGAGAG 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr14:44916561:A:G 1,.,. -1 -1 -1 0.00140154 0 4 49,.,. 0.367347,.,. dominant HG002 HG002 chr14:44916974:GTGTATA:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.377778,.,. dominant HG002 HG002 chr14:44916983:C:T 1,.,. 9.42223e-06 0 1 -1 -1 -1 48,.,. 0.375,.,. dominant HG002 HG002 chr14:44917050:G:A 1,.,. 8.87217e-06 0 1 -1 -1 -1 47,.,. 0.382979,.,. dominant HG002 HG002 chr14:44917133:C:CTATGTGTGTGTACACTCACATATATACACTA 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.355556,.,. dominant HG002 HG002 chr14:45262833:GCTCT:G 1,.,. 1.21625e-05 0 1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr14:45457626:A:G 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.46,.,. dominant HG002 HG002 chr14:45457627:T:G 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.46,.,. dominant HG002 HG002 chr14:45467855:G:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr14:45663628:T:G 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.423077,.,. dominant HG002 HG002 chr14:45723869:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr14:45834540:C:T 1,.,. 6.59831e-06 0 1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr14:45871813:A:AAGTCACC 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr14:45965825:TTTACCTAC:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.431373,.,. dominant HG002 HG002 chr14:45965836:A:G 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.44,.,. dominant HG002 HG002 chr14:45965837:C:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.45098,.,. dominant HG002 HG002 chr14:45965849:T:C 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.45098,.,. recessive HG002 HG002 chr14:46398792:T:TACA 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr14:46398795:A:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr14:47158369:T:G 1,.,. -1 -1 -1 -1 -1 -1 MDGA2 50_intron 43,.,. 0.418605,.,. MDGA2/intron/ 1.0000 0.2571 0.3620 0 dominant HG002 HG002 chr14:47284783:GTAA:G 1,.,. -1 -1 -1 -1 -1 -1 MDGA2 50_intron 40,.,. 0.475,.,. MDGA2/intron/ 1.0000 0.2571 0.3620 0 dominant HG002 HG002 chr14:47284787:G:A 1,.,. -1 -1 -1 -1 -1 -1 MDGA2 50_intron 41,.,. 0.463415,.,. MDGA2/intron/ 1.0000 0.2571 0.3620 0 dominant HG002 HG002 chr14:47301291:CCACCCACACA:C 1,.,. -1 -1 -1 -1 -1 -1 MDGA2 50_intron 49,.,. 0.428571,.,. MDGA2/intron/;MDGA2/non_coding/ 1.0000 0.2571 0.3620 0 dominant HG002 HG002 chr14:47312694:T:G 1,.,. -1 -1 -1 -1 -1 -1 MDGA2 50_intron 36,.,. 0.416667,.,. MDGA2/intron/;MDGA2/non_coding/ 1.0000 0.2571 0.3620 0 dominant HG002 HG002 chr14:47503180:T:A 1,.,. -1 -1 -1 -1 -1 -1 MDGA2 50_intron 42,.,. 0.547619,.,. MDGA2/intron/ 1.0000 0.2571 0.3620 0 dominant HG002 HG002 chr14:47653468:TGGA:T 1,.,. -1 -1 -1 -1 -1 -1 MDGA2 50_intron 33,.,. 0.575758,.,. MDGA2/intron/ 1.0000 0.2571 0.3620 0 dominant HG002 HG002 chr14:47691907:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr14:47692113:C:CTTTCTT 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.558824,.,. recessive HG002 HG002 chr14:47837914:ATATT:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr14:47837922:G:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr14:47903458:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr14:48438279:TCA:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr14:48538956:T:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. recessive HG002 HG002 chr14:48901709:C:T 2,.,. 4.17967e-05 0 6 0.00105116 0 3 51,.,. 1,.,. dominant HG002 HG002 chr14:49232420:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr14:49271606:T:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.340909,.,. dominant HG002 HG002 chr14:49357906:ATGCCATGAG:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr14:49357917:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr14:49562632:T:G 1,.,. 9.86115e-06 0 1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr14:49626618:C:T 1,.,. -1 -1 -1 -1 -1 -1 DNAAF2 50_intron 38,.,. 0.552632,.,. DNAAF2/intron/ 0.0000 1.4723 1.8110 9 Primary ciliary dyskinesia 10 0.000 dominant HG002 HG002 chr14:49754325:A:ATGCAC 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.594595,.,. dominant HG002 HG002 chr14:49754327:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.594595,.,. dominant HG002 HG002 chr14:50243671:A:T 1,.,. -1 -1 -1 -1 -1 -1 L2HGDH 36_3_prime_utr 42,.,. 0.619048,.,. L2HGDH/3_prime_utr/ENST00000267436 0.0000 0.6361 0.8720 4 0.000 recessive HG002 HG002 chr14:50411864:A:C 2,.,. -1 -1 -1 -1 -1 -1 CDKL1 53_non_coding 27,.,. 1,.,. CDKL1/non_coding/ 0.0000 0.8750 1.2070 6 recessive HG002 HG002 chr14:50411865:G:C 2,.,. 1.97532e-05 0 3 0.00105116 0 3 CDKL1 53_non_coding 27,.,. 1,.,. CDKL1/non_coding/ 0.0000 0.8750 1.2070 6 dominant HG002 HG002 chr14:50866773:C:T 1,.,. -1 -1 -1 -1 -1 -1 PYGL 50_intron 39,.,. 0.538462,.,. PYGL/intron/ 0.0000 0.8799 1.0480 5 Glycogen storage disease, type VI 0.000 dominant HG002 HG002 chr14:51293039:GATTAGGTTAAAATA:G 1,.,. 6.57125e-06 0 1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr14:51298702:C:CTCTCTAAACTCATA 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr14:51298704:C:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr14:51298705:A:G 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr14:51800257:A:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. recessive HG002 HG002 chr14:52033616:A:AAG 2,.,. -1 -1 -1 -1 -1 -1 NID2 50_intron 35,.,. 1,.,. NID2/intron/;NID2/non_coding/ 0.0000 0.5287 0.6420 2 recessive HG002 HG002 chr14:52033618:C:T 2,.,. -1 -1 -1 -1 -1 -1 NID2 50_intron 36,.,. 1,.,. NID2/intron/;NID2/non_coding/ 0.0000 0.5287 0.6420 2 recessive HG002 HG002 chr14:52033619:T:G 2,.,. 1.97042e-05 0 3 -1 -1 -1 NID2 50_intron 36,.,. 1,.,. NID2/intron/;NID2/non_coding/ 0.0000 0.5287 0.6420 2 dominant HG002 HG002 chr14:52081714:T:TTGTG 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr14:52174045:A:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr14:52340123:T:TTGTG 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr14:52527895:C:T 1,.,. -1 -1 -1 -1 -1 -1 TXNDC16 50_intron 47,.,. 0.425532,.,. TXNDC16/intron/;TXNDC16/non_coding/ 0.0000 0.9854 1.2470 7 dominant HG002 HG002 chr14:52653158:G:A 1,.,. 2.63154e-05 0 4 -1 -1 -1 ERO1A 30_synonymous 34,.,. 0.382353,.,. ERO1A/synonymous/ENST00000395686;ERO1A/3_prime_utr&NMD_transcript/ENST00000554019;ERO1A/3_prime_utr&NMD_transcript/ENST00000556039;ERO1A/5_prime_utr/ENST00000556358 0.0000 0.8008 1.2160 6 dominant HG002 HG002 chr14:52680214:C:G 1,.,. 6.58328e-06 0 1 -1 -1 -1 ERO1A 50_intron 44,.,. 0.5,.,. ERO1A/intron/ 0.0000 0.8008 1.2160 6 dominant HG002 HG002 chr14:52822472:C:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.404255,.,. dominant HG002 HG002 chr14:52822473:C:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.395833,.,. dominant HG002 HG002 chr14:52822474:AATTTAGGGATTCCTT:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.387755,.,. dominant HG002 HG002 chr14:53015147:T:TTTTG 1,.,. 3.35031e-05 0 3 -1 -1 -1 31,.,. 0.387097,.,. dominant HG002 HG002 chr14:53158565:C:CAAAA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr14:53169248:A:G 1,.,. 6.57246e-06 0 1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr14:53923372:G:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.617021,.,. dominant HG002 HG002 chr14:54374098:ATTTCATATAG:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr14:54374109:C:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr14:54912791:A:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.580645,.,. dominant HG002 HG002 chr14:54945286:T:C 1,.,. -1 -1 -1 -1 -1 -1 WDHD1 50_intron 34,.,. 0.588235,.,. WDHD1/intron/ 0.0000 0.7727 0.9230 4 dominant HG002 HG002 chr14:55161766:T:C 1,.,. 1.35265e-05 0 2 -1 -1 -1 DLGAP5 50_intron 44,.,. 0.636364,.,. DLGAP5/intron/ 0.0000 0.9151 1.1120 6 dominant HG002 HG002 chr14:55305809:C:G 1,.,. 6.5703e-06 0 1 -1 -1 -1 FBXO34 50_intron 39,.,. 0.410256,.,. FBXO34/intron/;FBXO34/non_coding/ 0.0452 0.4771 0.7590 3 dominant HG002 HG002 chr14:56153422:A:T 1,.,. -1 -1 -1 -1 -1 -1 PELI2 50_intron 52,.,. 0.326923,.,. PELI2/intron/ 0.0003 0.5783 0.8400 3 dominant HG002 HG002 chr14:56373416:A:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr14:56517782:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 TMEM260 50_intron 45,.,. 0.444444,.,. TMEM260/intron/ 0.0000 0.8344 1.0490 5 Structural heart defects and renal anomalies syndrome 0.000 dominant HG002 HG002 chr14:56517784:A:T 1,.,. -1 -1 -1 0.000700771 0 2 TMEM260 50_intron 46,.,. 0.456522,.,. TMEM260/intron/ 0.0000 0.8344 1.0490 5 Structural heart defects and renal anomalies syndrome 0.000 dominant HG002 HG002 chr14:56522116:CTTTTCTTTCTTTCCT:C 1,.,. -1 -1 -1 -1 -1 -1 TMEM260 50_intron 28,.,. 0.357143,.,. TMEM260/intron/ 0.0000 0.8344 1.0490 5 Structural heart defects and renal anomalies syndrome 0.000 dominant HG002 HG002 chr14:56522132:T:C 1,.,. -1 -1 -1 -1 -1 -1 TMEM260 50_intron 30,.,. 0.333333,.,. TMEM260/intron/ 0.0000 0.8344 1.0490 5 Structural heart defects and renal anomalies syndrome 0.000 recessive HG002 HG002 chr14:56895065:G:GAC 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr14:56895066:G:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr14:56895067:T:C 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr14:56903015:A:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr14:56903016:C:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr14:56903017:T:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr14:56903019:C:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr14:56968028:TTTAAAA:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.382979,.,. dominant HG002 HG002 chr14:56968037:A:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.413043,.,. dominant HG002 HG002 chr14:56999618:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.30303,.,. dominant HG002 HG002 chr14:56999620:A:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.30303,.,. dominant HG002 HG002 chr14:57552443:G:T 1,.,. -1 -1 -1 0.00105116 0 3 46,.,. 0.413043,.,. dominant HG002 HG002 chr14:57563889:GA:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr14:57727121:TATATGTATATATGTAC:T 1,.,. -1 -1 -1 -1 -1 -1 SLC35F4 50_intron 42,.,. 0.547619,.,. SLC35F4/intron/;SLC35F4/non_coding/ 0.0001 0.5721 0.8050 3 dominant HG002 HG002 chr14:58000518:G:GTGTT 1,.,. -1 -1 -1 -1 -1 -1 ARMH4 53_non_coding 50,.,. 0.28,.,. ARMH4/non_coding/ 0.0000 0.7436 0.9530 4 recessive HG002 HG002 chr14:58063609:TACAA:T 2,.,. -1 -1 -1 -1 -1 -1 ARMH4 50_intron 49,.,. 1,.,. ARMH4/intron/ 0.0000 0.7436 0.9530 4 recessive HG002 HG002 chr14:58063615:A:G 2,.,. -1 -1 -1 -1 -1 -1 ARMH4 50_intron 49,.,. 1,.,. ARMH4/intron/ 0.0000 0.7436 0.9530 4 dominant HG002 HG002 chr14:58308003:C:CGTTACT 1,.,. -1 -1 -1 -1 -1 -1 ARID4A 50_intron 40,.,. 0.475,.,. ARID4A/intron/ 1.0000 0.2426 0.3390 0 dominant HG002 HG002 chr14:58308005:T:A 1,.,. -1 -1 -1 -1 -1 -1 ARID4A 50_intron 40,.,. 0.475,.,. ARID4A/intron/ 1.0000 0.2426 0.3390 0 recessive HG002 HG002 chr14:58684162:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr14:58684171:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr14:58684179:T:TGCCCACCTCGG 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr14:58684195:G:GGA 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr14:58684215:C:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr14:58684223:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr14:58684228:GCT:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr14:58684231:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr14:58684234:C:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr14:58770834:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr14:58770835:ATCAATTT:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr14:58793589:G:A 2,.,. 0.00409152 4 623 0.0024527 0 7 50,.,. 1,.,. recessive HG002 HG002 chr14:58867192:C:CCA 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr14:58867195:A:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr14:58890927:A:AAAG 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.5,.,. dominant HG002 HG002 chr14:59141302:A:AAAAAG 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.285714,.,. dominant HG002 HG002 chr14:59394285:A:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr14:59496960:CTTCCGAA:C 1,.,. -1 -1 -1 -1 -1 -1 JKAMP 50_intron 42,.,. 0.428571,.,. JKAMP/intron/;JKAMP/non_coding/ 0.6618 0.3428 0.6770 2 dominant HG002 HG002 chr14:59496968:G:A 1,.,. -1 -1 -1 -1 -1 -1 JKAMP 50_intron 40,.,. 0.45,.,. JKAMP/intron/;JKAMP/non_coding/ 0.6618 0.3428 0.6770 2 dominant HG002 HG002 chr14:59908973:G:A 1,.,. 2.64229e-05 0 1 -1 -1 -1 41,.,. 0.365854,.,. dominant HG002 HG002 chr14:60589512:AT:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.322581,.,. dominant HG002 HG002 chr14:60590059:T:TATATATAATATAATATA 1,.,. 0.000115048 0 1 -1 -1 -1 32,.,. 0.3125,.,. dominant HG002 HG002 chr14:60655090:AT:A 1,.,. -1 -1 -1 -1 -1 -1 SIX1 50_intron 25,.,. 0.36,.,. SIX1/intron/ 0.2556 0.4183 0.6920 2 Branchiootic syndrome 3;Branchiootorenal syndrome 1;Autosomal dominant nonsyndromic hearing loss 23 0.000 dominant HG002 HG002 chr14:61026083:A:G 1,.,. -1 -1 -1 -1 -1 -1 SLC38A6 50_intron 53,.,. 0.528302,.,. SLC38A6/intron/;SLC38A6/non_coding/ 0.0000 1.1812 1.5530 8 dominant HG002 HG002 chr14:61106106:T:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr14:61428038:T:TATAGATAG 1,.,. -1 -1 -1 -1 -1 -1 PRKCH 50_intron 40,.,. 0.525,.,. PRKCH/intron/ 0.9973 0.3346 0.4670 1 Ischemic stroke 0.000 dominant HG002 HG002 chr14:61694214:C:CTCAAGGGA 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.285714,.,. dominant HG002 HG002 chr14:61694216:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.294118,.,. dominant HG002 HG002 chr14:61746392:C:T 1,.,. -1 -1 -1 -1 -1 -1 HIF1A 50_intron 38,.,. 0.473684,.,. HIF1A/intron/;HIF1A/non_coding/ 1.0000 0.2079 0.3530 0 dominant HG002 HG002 chr14:62191754:TATG:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr14:62375609:C:T 1,.,. 2.05196e-05 0 3 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr14:62457567:ACT:A 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.45614,.,. dominant HG002 HG002 chr14:62457571:T:C 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.473684,.,. dominant HG002 HG002 chr14:63062355:GTCACACACACACAC:G 1,.,. -1 -1 -1 -1 -1 -1 KCNH5 50_intron 50,.,. 0.44,.,. KCNH5/intron/;KCNH5/non_coding/ 0.1061 0.4204 0.5550 1 Developmental and epileptic encephalopathy 112 dominant HG002 HG002 chr14:63062370:A:C 1,.,. -1 -1 -1 -1 -1 -1 KCNH5 50_intron 54,.,. 0.407407,.,. KCNH5/intron/;KCNH5/non_coding/ 0.1061 0.4204 0.5550 1 Developmental and epileptic encephalopathy 112 dominant HG002 HG002 chr14:63120418:A:G 1,.,. -1 -1 -1 0.00105116 0 3 36,.,. 0.472222,.,. dominant HG002 HG002 chr14:63223253:A:G 1,.,. 1.31409e-05 0 2 -1 -1 -1 RHOJ 50_intron 37,.,. 0.459459,.,. RHOJ/intron/;RHOJ/non_coding/ 0.0471 0.5003 0.8490 3 dominant HG002 HG002 chr14:63238755:ACAGT:A 1,.,. 1.31458e-05 0 2 -1 -1 -1 RHOJ 50_intron 37,.,. 0.513514,.,. RHOJ/intron/;RHOJ/non_coding/ 0.0471 0.5003 0.8490 3 dominant HG002 HG002 chr14:63353308:A:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr14:63748445:T:C 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.5,.,. recessive HG002 HG002 chr14:63778935:T:C 2,.,. -1 -1 -1 -1 -1 -1 SYNE2 50_intron 32,.,. 1,.,. SYNE2/intron/ 0.0000 0.4742 0.5160 1 Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0.000 recessive HG002 HG002 chr14:63792677:G:T 2,.,. 0.000606666 0 34 0.000700771 0 2 SYNE2 50_intron 34,.,. 1,.,. SYNE2/intron/ 0.0000 0.4742 0.5160 1 Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0.000 dominant HG002 HG002 chr14:63802673:G:A 1,.,. 6.57307e-06 0 1 -1 -1 -1 SYNE2 50_intron 31,.,. 0.612903,.,. SYNE2/intron/ 0.0000 0.4742 0.5160 1 Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0.000 dominant HG002 HG002 chr14:63948160:C:CACACACAT 1,.,. -1 -1 -1 -1 -1 -1 SYNE2 50_intron 30,.,. 0.5,.,. SYNE2/intron/ 0.0000 0.4742 0.5160 1 Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0.000 dominant HG002 HG002 chr14:64737373:A:T 1,.,. -1 -1 -1 -1 -1 -1 PLEKHG3 03_stop_gained 19,.,. 0.526316,.,. PLEKHG3/splice_region/ENST00000247226;PLEKHG3/stop_gained/ENST00000247226;PLEKHG3/splice_region/ENST00000634379;PLEKHG3/stop_gained/ENST00000634379;PLEKHG3/splice_region/ENST00000394691;PLEKHG3/stop_gained/ENST00000394691 0.0000 0.6453 0.8090 3 dominant HG002 HG002 chr14:64908387:T:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.361111,.,. dominant HG002 HG002 chr14:64927718:C:CCCCCA 1,.,. -1 -1 -1 -1 -1 -1 CHURC1;CHURC1-FNTB 50_intron 33,.,. 0.393939,.,. CHURC1/intron/;CHURC1-FNTB/intron/ 0.0006;;0.0000 0.8616;;0.5943 1.4550;;0.7850 8;;3 dominant HG002 HG002 chr14:64931532:T:TA 1,.,. -1 -1 -1 0.00140154 0 4 CHURC1;CHURC1-FNTB 50_intron 32,.,. 0.625,.,. CHURC1/intron/;CHURC1-FNTB/intron/ 0.0006;;0.0000 0.8616;;0.5943 1.4550;;0.7850 8;;3 dominant HG002 HG002 chr14:65267250:C:T 1,.,. -1 -1 -1 0.000700771 0 2 RPL21P7 53_non_coding 26,.,. 0.5,.,. RPL21P7/non_coding/ dominant HG002 HG002 chr14:65758296:C:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.55814,.,. dominant HG002 HG002 chr14:65986037:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr14:66539606:T:G 1,.,. -1 -1 -1 -1 -1 -1 GPHN 50_intron 36,.,. 0.555556,.,. GPHN/intron/;GPHN/non_coding/ 1.0000 0.0928 0.2400 0 Hyperekplexia 1;Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 0.000 dominant HG002 HG002 chr14:66539607:G:T 1,.,. 5.25183e-05 0 4 -1 -1 -1 GPHN 50_intron 36,.,. 0.555556,.,. GPHN/intron/;GPHN/non_coding/ 1.0000 0.0928 0.2400 0 Hyperekplexia 1;Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 0.000 dominant HG002 HG002 chr14:67167906:G:A 1,.,. -1 -1 -1 -1 -1 -1 GPHN 50_intron 42,.,. 0.5,.,. GPHN/intron/;GPHN/non_coding/ 1.0000 0.0928 0.2400 0 Hyperekplexia 1;Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 0.000 dominant HG002 HG002 chr14:69964695:C:T 1,.,. -1 -1 -1 -1 -1 -1 SMOC1 50_intron 40,.,. 0.4,.,. SMOC1/intron/;SMOC1/non_coding/ 0.1737 0.4203 0.6000 2 Microphthalmia with limb anomalies 0.000 dominant HG002 HG002 chr14:69986248:G:A 1,.,. -1 -1 -1 -1 -1 -1 SMOC1 50_intron 42,.,. 0.47619,.,. SMOC1/intron/ 0.1737 0.4203 0.6000 2 Microphthalmia with limb anomalies 0.000 dominant HG002 HG002 chr14:70424841:G:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5625,.,. dominant HG002 HG002 chr14:70507709:T:TTG 1,.,. 1.0622e-05 0 1 -1 -1 -1 43,.,. 0.232558,.,. dominant HG002 HG002 chr14:70550992:C:T 1,.,. -1 -1 -1 0.000700771 0 2 42,.,. 0.5,.,. dominant HG002 HG002 chr14:70626834:CACAGAGAG:C 1,.,. -1 -1 -1 0.000700771 0 2 37,.,. 0.459459,.,. dominant HG002 HG002 chr14:70814195:ACTTTTAC:A 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.5,.,. dominant HG002 HG002 chr14:70814204:T:C 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.521739,.,. dominant HG002 HG002 chr14:72093208:G:A 1,.,. -1 -1 -1 -1 -1 -1 RGS6 50_intron 38,.,. 0.447368,.,. RGS6/intron/ 0.0120 0.4685 0.6640 2 recessive HG002 HG002 chr14:72113078:G:GCATGCACACA 2,.,. 1.41836e-05 0 1 -1 -1 -1 RGS6 50_intron 51,.,. 0.980392,.,. RGS6/intron/ 0.0120 0.4685 0.6640 2 recessive HG002 HG002 chr14:72158858:TCTAGAGC:T 2,.,. -1 -1 -1 -1 -1 -1 RGS6 50_intron 54,.,. 1,.,. RGS6/intron/ 0.0120 0.4685 0.6640 2 recessive HG002 HG002 chr14:72158866:T:A 2,.,. 3.27311e-05 0 1 -1 -1 -1 RGS6 50_intron 54,.,. 1,.,. RGS6/intron/ 0.0120 0.4685 0.6640 2 recessive HG002 HG002 chr14:72269145:A:C 2,.,. 0.000201613 0 1 -1 -1 -1 RGS6 50_intron 37,.,. 1,.,. RGS6/intron/ 0.0120 0.4685 0.6640 2 dominant HG002 HG002 chr14:72509337:C:G 1,.,. -1 -1 -1 -1 -1 -1 RGS6 50_intron 31,.,. 0.387097,.,. RGS6/intron/ 0.0120 0.4685 0.6640 2 dominant HG002 HG002 chr14:72569115:T:G 1,.,. 7.83122e-06 0 1 -1 -1 -1 31,.,. 0.451613,.,. recessive HG002 HG002 chr14:72846646:TTGAACTCC:T 2,.,. -1 -1 -1 -1 -1 -1 DPF3 50_intron 35,.,. 1,.,. DPF3/intron/ 0.9872 0.3312 0.4910 1 recessive HG002 HG002 chr14:72846655:T:A 2,.,. -1 -1 -1 -1 -1 -1 DPF3 50_intron 35,.,. 1,.,. DPF3/intron/ 0.9872 0.3312 0.4910 1 dominant HG002 HG002 chr14:72903924:T:TGCAGTGTACATG 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr14:72903927:T:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr14:72928599:A:T 1,.,. 0.000117518 0 3 -1 -1 -1 DCAF4 50_intron 28,.,. 0.464286,.,. DCAF4/intron/;DCAF4/non_coding/ 0.0000 0.6025 0.7870 3 dominant HG002 HG002 chr14:73015380:G:T 1,.,. -1 -1 -1 -1 -1 -1 ZFYVE1 50_intron 30,.,. 0.566667,.,. ZFYVE1/intron/ 0.5636 0.3965 0.5380 1 dominant HG002 HG002 chr14:73015391:AGAGGGGAAGGAAG:A 1,.,. -1 -1 -1 -1 -1 -1 ZFYVE1 50_intron 32,.,. 0.5,.,. ZFYVE1/intron/ 0.5636 0.3965 0.5380 1 recessive HG002 HG002 chr14:73087062:T:A 2,.,. -1 -1 -1 -1 -1 -1 RBM25 50_intron 38,.,. 1,.,. RBM25/intron/;RBM25/non_coding/ 1.0000 0.1242 0.1980 0 dominant HG002 HG002 chr14:73151620:A:G 1,.,. 6.57609e-06 0 1 -1 -1 -1 PSEN1 50_intron 42,.,. 0.47619,.,. PSEN1/intron/;PSEN1/non_coding/ 0.9995 0.2673 0.4250 1 Pick disease;Alzheimer disease 3;Primary dilated cardiomyopathy;Dilated cardiomyopathy 1U;Acne inversa, familial, 3 0.000 dominant HG002 HG002 chr14:73332741:C:A 1,.,. -1 -1 -1 -1 -1 -1 NUMB 50_intron 33,.,. 0.424242,.,. NUMB/intron/;NUMB/non_coding/ 0.0229 0.4562 0.6460 2 dominant HG002 HG002 chr14:73332742:A:C 1,.,. -1 -1 -1 -1 -1 -1 NUMB 50_intron 33,.,. 0.424242,.,. NUMB/intron/;NUMB/non_coding/ 0.0229 0.4562 0.6460 2 recessive HG002 HG002 chr14:73343774:G:C 2,.,. -1 -1 -1 -1 -1 -1 NUMB 50_intron 42,.,. 1,.,. NUMB/intron/;NUMB/non_coding/ 0.0229 0.4562 0.6460 2 recessive HG002 HG002 chr14:73343775:A:C 2,.,. -1 -1 -1 -1 -1 -1 NUMB 50_intron 42,.,. 1,.,. NUMB/intron/;NUMB/non_coding/ 0.0229 0.4562 0.6460 2 recessive HG002 HG002 chr14:73543743:C:T 2,.,. -1 -1 -1 -1 -1 -1 ACOT1 36_3_prime_utr 16,.,. 1,.,. ACOT1/3_prime_utr/ENST00000311148 0.2016 0.5187 1.5310 8 recessive HG002 HG002 chr14:73543745:C:A 2,.,. -1 -1 -1 -1 -1 -1 ACOT1 36_3_prime_utr 16,.,. 1,.,. ACOT1/3_prime_utr/ENST00000311148 0.2016 0.5187 1.5310 8 recessive HG002 HG002 chr14:73543750:CTTCT:C 2,.,. -1 -1 -1 -1 -1 -1 ACOT1 36_3_prime_utr 16,.,. 1,.,. ACOT1/3_prime_utr/ENST00000311148 0.2016 0.5187 1.5310 8 recessive HG002 HG002 chr14:73621233:ACG:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr14:73621238:A:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr14:73827939:C:CTCAT 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.347826,.,. dominant HG002 HG002 chr14:73827940:C:G 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.347826,.,. dominant HG002 HG002 chr14:73827941:G:C 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.347826,.,. dominant HG002 HG002 chr14:73838775:TCTCACACACACACACA:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.423077,.,. dominant HG002 HG002 chr14:74092316:T:G 1,.,. -1 -1 -1 -1 -1 -1 LIN52 50_intron 34,.,. 0.558824,.,. LIN52/intron/;LIN52/non_coding/ 0.0558 0.8430 1.7860 8 dominant HG002 HG002 chr14:76464692:G:C 1,.,. -1 -1 -1 -1 -1 -1 ESRRB 50_intron 22,.,. 0.454545,.,. ESRRB/intron/;ESRRB/non_coding/ 0.7924 0.3686 0.5600 1 Autosomal recessive nonsyndromic hearing loss 35 0.000 dominant HG002 HG002 chr14:76778997:C:T 1,.,. 6.56806e-06 0 1 -1 -1 -1 VASH1 30_synonymous 18,.,. 0.444444,.,. VASH1/synonymous/ENST00000167106;VASH1/5_prime_utr/ENST00000554743 0.0021 0.5634 0.8560 3 dominant HG002 HG002 chr14:77011885:AACAG:A 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.708333,.,. dominant HG002 HG002 chr14:77061522:A:G 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.571429,.,. dominant HG002 HG002 chr14:77156119:T:G 1,.,. -1 -1 -1 -1 -1 -1 AC007375.2;TMEM63C 50_intron 30,.,. 0.533333,.,. AC007375.2/intron/;TMEM63C/intron/ 0.9999 0.3242 0.4380 1 Spastic paraplegia 87, autosomal recessive 0.000 dominant HG002 HG002 chr14:77156125:T:G 1,.,. 2.63678e-05 0 4 -1 -1 -1 AC007375.2;TMEM63C 50_intron 31,.,. 0.548387,.,. AC007375.2/intron/;TMEM63C/intron/ 0.9999 0.3242 0.4380 1 Spastic paraplegia 87, autosomal recessive 0.000 dominant HG002 HG002 chr14:77447806:GCACGCCAC:G 1,.,. -1 -1 -1 -1 -1 -1 VIPAS39 50_intron 32,.,. 0.34375,.,. VIPAS39/intron/;VIPAS39/non_coding/ 0.0000 0.7054 0.8700 4 Arthrogryposis, renal dysfunction, and cholestasis 2 0.000 dominant HG002 HG002 chr14:77649374:A:AGGAAT 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.341463,.,. dominant HG002 HG002 chr14:77654859:G:GGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr14:77664859:A:T 1,.,. 1.43719e-05 0 1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr14:77842450:TCCTTC:T 1,.,. -1 -1 -1 -1 -1 -1 ADCK1 50_intron 26,.,. 0.423077,.,. ADCK1/intron/ 0.0000 0.6933 0.9160 4 dominant HG002 HG002 chr14:77842456:C:T 1,.,. 2.41511e-05 0 1 -1 -1 -1 ADCK1 50_intron 27,.,. 0.407407,.,. ADCK1/intron/ 0.0000 0.6933 0.9160 4 dominant HG002 HG002 chr14:77949009:T:C 1,.,. 1.31537e-05 0 2 -1 -1 -1 22,.,. 0.545455,.,. dominant HG002 HG002 chr14:77961247:T:G 1,.,. 1.97021e-05 0 3 -1 -1 -1 25,.,. 0.56,.,. dominant HG002 HG002 chr14:78047507:C:T 1,.,. 1.31595e-05 0 2 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chr14:78157358:A:G 1,.,. 1.97096e-05 0 3 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr14:78246551:G:T 1,.,. 1.97158e-05 0 3 -1 -1 -1 NRXN3 50_intron 26,.,. 0.615385,.,. NRXN3/intron/;NRXN3/non_coding/ 1.0000 0.2338 0.3190 0 dominant HG002 HG002 chr14:78591391:T:C 1,.,. -1 -1 -1 -1 -1 -1 NRXN3 50_intron 31,.,. 0.451613,.,. NRXN3/intron/;NRXN3/non_coding/ 1.0000 0.2338 0.3190 0 dominant HG002 HG002 chr14:79025482:C:A 1,.,. -1 -1 -1 -1 -1 -1 NRXN3 50_intron 36,.,. 0.472222,.,. NRXN3/intron/ 1.0000 0.2338 0.3190 0 dominant HG002 HG002 chr14:79310692:G:A 1,.,. -1 -1 -1 0.000700771 0 2 NRXN3 50_intron 37,.,. 0.459459,.,. NRXN3/intron/;NRXN3/non_coding/ 1.0000 0.2338 0.3190 0 dominant HG002 HG002 chr14:79376206:GTGTGTATGTATATA:G 1,.,. 5.56793e-05 0 3 -1 -1 -1 NRXN3 50_intron 24,.,. 0.375,.,. NRXN3/intron/;NRXN3/non_coding/ 1.0000 0.2338 0.3190 0 dominant HG002 HG002 chr14:79412894:C:T 1,.,. -1 -1 -1 -1 -1 -1 NRXN3 50_intron 37,.,. 0.486486,.,. NRXN3/intron/;NRXN3/non_coding/ 1.0000 0.2338 0.3190 0 dominant HG002 HG002 chr14:79504637:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 NRXN3 50_intron 45,.,. 0.288889,.,. NRXN3/intron/;NRXN3/non_coding/ 1.0000 0.2338 0.3190 0 dominant HG002 HG002 chr14:79614728:GTAGAC:G 1,.,. -1 -1 -1 -1 -1 -1 NRXN3 50_intron 38,.,. 0.473684,.,. NRXN3/intron/;NRXN3/non_coding/ 1.0000 0.2338 0.3190 0 dominant HG002 HG002 chr14:79614734:T:C 1,.,. -1 -1 -1 -1 -1 -1 NRXN3 50_intron 38,.,. 0.473684,.,. NRXN3/intron/;NRXN3/non_coding/ 1.0000 0.2338 0.3190 0 dominant HG002 HG002 chr14:79981232:T:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr14:80629561:T:C 1,.,. -1 -1 -1 -1 -1 -1 CEP128 50_intron 36,.,. 0.527778,.,. CEP128/intron/ 0.0000 0.7808 0.9570 4 dominant HG002 HG002 chr14:80859395:TGTGGG:T 1,.,. -1 -1 -1 -1 -1 -1 CEP128 50_intron 43,.,. 0.511628,.,. CEP128/intron/ 0.0000 0.7808 0.9570 4 dominant HG002 HG002 chr14:80859404:G:T 1,.,. 1.00841e-05 0 1 -1 -1 -1 CEP128 50_intron 43,.,. 0.511628,.,. CEP128/intron/ 0.0000 0.7808 0.9570 4 dominant HG002 HG002 chr14:81210016:C:CTA 1,.,. -1 -1 -1 -1 -1 -1 GTF2A1 50_intron 38,.,. 0.552632,.,. GTF2A1/intron/;GTF2A1/non_coding/ 0.9979 0.2263 0.4250 1 dominant HG002 HG002 chr14:81210017:A:C 1,.,. -1 -1 -1 -1 -1 -1 GTF2A1 50_intron 37,.,. 0.540541,.,. GTF2A1/intron/;GTF2A1/non_coding/ 0.9979 0.2263 0.4250 1 dominant HG002 HG002 chr14:81240326:C:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.354839,.,. dominant HG002 HG002 chr14:81303057:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 STON2 50_intron 38,.,. 0.5,.,. STON2/intron/;STON2/non_coding/ 0.0308 0.4409 0.6010 2 dominant HG002 HG002 chr14:81569787:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.575,.,. recessive HG002 HG002 chr14:82287549:G:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chr14:82568121:G:A 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.240741,.,. dominant HG002 HG002 chr14:82818709:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr14:83062501:G:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.386364,.,. recessive HG002 HG002 chr14:83160315:CCT:C 2,.,. 0.00394823 0 97 0.000700771 0 2 42,.,. 1,.,. recessive HG002 HG002 chr14:83160319:T:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr14:83342473:A:C 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. dominant HG002 HG002 chr14:83525608:TAGATGATA:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr14:83627858:GTGTGTA:G 1,.,. 4.35218e-05 0 4 -1 -1 -1 39,.,. 0.333333,.,. dominant HG002 HG002 chr14:83655383:A:C 1,.,. 6.57168e-06 0 1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr14:83743400:A:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. recessive HG002 HG002 chr14:83753593:T:TAGTA 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr14:83753594:T:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. dominant HG002 HG002 chr14:84166223:T:C 1,.,. 2.6321e-05 0 4 -1 -1 -1 42,.,. 0.404762,.,. dominant HG002 HG002 chr14:84614772:A:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.511111,.,. dominant HG002 HG002 chr14:84685882:T:C 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.471698,.,. dominant HG002 HG002 chr14:84710359:C:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr14:84898024:C:T 1,.,. -1 -1 -1 0.00140154 0 4 27,.,. 0.555556,.,. dominant HG002 HG002 chr14:84908923:CTTTCTT:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr14:84908933:C:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr14:85157914:G:GGTGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.641026,.,. dominant HG002 HG002 chr14:85230331:TTTCTTG:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr14:85230340:T:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr14:85240559:AATATATGT:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.425532,.,. dominant HG002 HG002 chr14:85240574:G:A 1,.,. 2.68097e-05 0 2 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr14:85555696:A:T 1,.,. 1.31537e-05 0 1 -1 -1 -1 FLRT2 50_intron 34,.,. 0.264706,.,. FLRT2/intron/;FLRT2/non_coding/ 0.6633 0.3786 0.5830 1 dominant HG002 HG002 chr14:86037531:T:TAG 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.472727,.,. dominant HG002 HG002 chr14:86171084:T:G 1,.,. 6.57479e-06 0 1 -1 -1 -1 27,.,. 0.444444,.,. recessive HG002 HG002 chr14:86287275:G:A 2,.,. 0.00028819 1 28 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr14:86364707:G:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.456522,.,. recessive HG002 HG002 chr14:86416977:G:GCCACTT 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr14:86444005:A:T 2,.,. 0.000665779 0 3 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr14:86444006:T:A 2,.,. 0.000224719 0 1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr14:86444007:A:T 2,.,. 2.52143e-05 0 2 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr14:86549339:CTTTTT:C 1,.,. -1 -1 -1 0.00105116 0 3 27,.,. 0.444444,.,. dominant HG002 HG002 chr14:86571783:T:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr14:86875973:G:A 1,.,. 1.31605e-05 0 2 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr14:87135225:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.456522,.,. recessive HG002 HG002 chr14:87275866:G:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr14:87275867:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr14:87275868:T:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.981132,.,. dominant HG002 HG002 chr14:87348146:G:A 1,.,. 1.31451e-05 0 2 -1 -1 -1 48,.,. 0.625,.,. dominant HG002 HG002 chr14:87574097:CT:C 1,.,. 1.31731e-05 0 2 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr14:87674792:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr14:87923907:T:A 1,.,. -1 -1 -1 -1 -1 -1 GALC 50_intron 40,.,. 0.6,.,. GALC/intron/ 0.0000 0.8102 1.0190 5 Galactosylceramide beta-galactosidase deficiency 0.000 dominant HG002 HG002 chr14:87923908:T:TTTGA 1,.,. -1 -1 -1 -1 -1 -1 GALC 50_intron 40,.,. 0.6,.,. GALC/intron/ 0.0000 0.8102 1.0190 5 Galactosylceramide beta-galactosidase deficiency 0.000 dominant HG002 HG002 chr14:87951662:A:G 1,.,. 2.63206e-05 0 4 0.000700771 0 2 GALC 50_intron 57,.,. 0.438596,.,. GALC/intron/ 0.0000 0.8102 1.0190 5 Galactosylceramide beta-galactosidase deficiency 0.000 dominant HG002 HG002 chr14:88065281:G:A 1,.,. 1.97174e-05 0 3 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr14:88270053:G:GA 1,.,. 1.97291e-05 0 3 -1 -1 -1 KCNK10 50_intron 36,.,. 0.5,.,. KCNK10/intron/ 0.0040 0.4907 0.6950 2 recessive HG002 HG002 chr14:88423832:C:A 2,.,. -1 -1 -1 -1 -1 -1 SPATA7 50_intron 35,.,. 1,.,. SPATA7/intron/;SPATA7/non_coding/ 0.0000 0.8845 1.2200 6 Leber congenital amaurosis 3 0.000 dominant HG002 HG002 chr14:88443755:TAGTTTGCTCAGAA:T 1,.,. -1 -1 -1 -1 -1 -1 SPATA7 50_intron 50,.,. 0.48,.,. SPATA7/intron/ 0.0000 0.8845 1.2200 6 Leber congenital amaurosis 3 0.000 dominant HG002 HG002 chr14:88443769:T:G 1,.,. -1 -1 -1 -1 -1 -1 SPATA7 50_intron 50,.,. 0.48,.,. SPATA7/intron/ 0.0000 0.8845 1.2200 6 Leber congenital amaurosis 3 0.000 dominant HG002 HG002 chr14:88946186:A:ATATG 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr14:89130650:CCGGACTG:C 1,.,. -1 -1 -1 -1 -1 -1 FOXN3 50_intron 35,.,. 0.6,.,. FOXN3/intron/ 0.9998 0.1988 0.3730 0 dominant HG002 HG002 chr14:89233432:AGGAGCTGGAATTTCCC:A 1,.,. -1 -1 -1 -1 -1 -1 FOXN3 50_intron 34,.,. 0.382353,.,. FOXN3/intron/ 0.9998 0.1988 0.3730 0 dominant HG002 HG002 chr14:89233449:A:C 1,.,. -1 -1 -1 -1 -1 -1 FOXN3 50_intron 35,.,. 0.371429,.,. FOXN3/intron/ 0.9998 0.1988 0.3730 0 dominant HG002 HG002 chr14:89303119:C:T 1,.,. -1 -1 -1 -1 -1 -1 FOXN3 50_intron 37,.,. 0.540541,.,. FOXN3/intron/;FOXN3/non_coding/ 0.9998 0.1988 0.3730 0 dominant HG002 HG002 chr14:89524391:AAAAAAAAAAAAAG:A 1,.,. -1 -1 -1 0.000700771 0 2 FOXN3 50_intron 26,.,. 0.692308,.,. FOXN3/intron/ 0.9998 0.1988 0.3730 0 dominant HG002 HG002 chr14:89651340:C:CGTGT 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr14:89651341:T:G 1,.,. 1.9937e-05 0 3 0.000700771 0 2 34,.,. 0.588235,.,. recessive HG002 HG002 chr14:89784784:G:GTGAGAAGAAGGGTGTC 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr14:89784787:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr14:90236189:TTTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr14:90506309:A:C 1,.,. 1.31536e-05 0 2 -1 -1 -1 25,.,. 0.52,.,. dominant HG002 HG002 chr14:90695028:TATTTTTTATTTTATTATAAAATATATTTTATTTTATTATAAA:T 1,.,. 9.668e-06 0 1 0.00140154 0 4 TTC7B 50_intron 40,.,. 0.475,.,. TTC7B/intron/ 1.0000 0.2885 0.4030 1 dominant HG002 HG002 chr14:91325054:G:C 1,.,. 6.57194e-06 0 1 -1 -1 -1 CCDC88C 50_intron 27,.,. 0.555556,.,. CCDC88C/intron/ 0.0000 0.6470 0.7590 3 Spinocerebellar ataxia type 40;Hydrocephalus, nonsyndromic, autosomal recessive 1 0.000 dominant HG002 HG002 chr14:91423659:A:G 1,.,. 8.26241e-06 0 1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr14:91610343:A:T 1,.,. 6.56866e-06 0 1 -1 -1 -1 CATSPERB 50_intron 37,.,. 0.513514,.,. CATSPERB/intron/ 0.0000 0.7496 0.9350 4 dominant HG002 HG002 chr14:91721953:C:T 1,.,. 1.31664e-05 0 2 -1 -1 -1 CATSPERB 50_intron 38,.,. 0.394737,.,. CATSPERB/intron/ 0.0000 0.7496 0.9350 4 dominant HG002 HG002 chr14:91746558:ATATG:A 1,.,. -1 -1 -1 -1 -1 -1 CATSPERB 50_intron 48,.,. 0.375,.,. CATSPERB/intron/ 0.0000 0.7496 0.9350 4 dominant HG002 HG002 chr14:91766670:TA:T 1,.,. 0.000225327 0 2 -1 -1 -1 CATSPERB 50_intron 47,.,. 0.468085,.,. CATSPERB/intron/ 0.0000 0.7496 0.9350 4 dominant HG002 HG002 chr14:91963815:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.636364,.,. dominant HG002 HG002 chr14:91963820:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.636364,.,. dominant HG002 HG002 chr14:91977660:C:T 1,.,. -1 -1 -1 -1 -1 -1 TRIP11 50_intron 44,.,. 0.545455,.,. TRIP11/intron/ 0.0000 0.6351 0.7310 2 Odontochondrodysplasia 1;Achondrogenesis, type IA 0.000 dominant HG002 HG002 chr14:92056346:C:T 1,.,. 2.63189e-05 0 4 -1 -1 -1 ATXN3 50_intron 31,.,. 0.451613,.,. ATXN3/non_coding/;ATXN3/intron/ 0.6328 0.3827 0.5810 1 Parkinson disease, late-onset;Azorean disease 0.000 dominant HG002 HG002 chr14:92066097:A:T 1,.,. 6.61262e-06 0 1 0.000700771 0 2 ATXN3 50_intron 42,.,. 0.380952,.,. ATXN3/intron/ 0.6328 0.3827 0.5810 1 Parkinson disease, late-onset;Azorean disease 0.000 dominant HG002 HG002 chr14:92150094:C:T 1,.,. 6.61087e-06 0 1 -1 -1 -1 CPSF2 50_intron 38,.,. 0.5,.,. CPSF2/intron/ 0.0026 0.4771 0.6510 2 dominant HG002 HG002 chr14:92256942:C:T 1,.,. 1.97176e-05 0 3 -1 -1 -1 33,.,. 0.515152,.,. recessive HG002 HG002 chr14:92457290:CTGTCATTCCTA:C 2,.,. -1 -1 -1 -1 -1 -1 SLC24A4 50_intron 31,.,. 1,.,. SLC24A4/intron/;SLC24A4/non_coding/ 0.0000 0.6686 0.8620 3 SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR;Amelogenesis imperfecta hypomaturation type 2A5 0.000 recessive HG002 HG002 chr14:92457302:G:C 2,.,. -1 -1 -1 -1 -1 -1 SLC24A4 50_intron 31,.,. 1,.,. SLC24A4/intron/;SLC24A4/non_coding/ 0.0000 0.6686 0.8620 3 SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR;Amelogenesis imperfecta hypomaturation type 2A5 0.000 recessive HG002 HG002 chr14:92457304:A:G 2,.,. -1 -1 -1 -1 -1 -1 SLC24A4 50_intron 30,.,. 1,.,. SLC24A4/intron/;SLC24A4/non_coding/ 0.0000 0.6686 0.8620 3 SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR;Amelogenesis imperfecta hypomaturation type 2A5 0.000 dominant HG002 HG002 chr14:92488571:T:C 1,.,. -1 -1 -1 0.00140154 0 4 SLC24A4 50_intron 30,.,. 0.433333,.,. SLC24A4/intron/;SLC24A4/non_coding/ 0.0000 0.6686 0.8620 3 SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR;Amelogenesis imperfecta hypomaturation type 2A5 0.000 dominant HG002 HG002 chr14:92704190:G:A 1,.,. 6.88487e-06 0 1 -1 -1 -1 LGMN 14_missense 28,.,. 0.392857,.,. LGMN/missense/ENST00000555169;LGMN/3_prime_utr/ENST00000555699;LGMN/3_prime_utr/ENST00000334869;LGMN/3_prime_utr/ENST00000557434;LGMN/3_prime_utr/ENST00000393218;LGMN/3_prime_utr&NMD_transcript/ENST00000557609 0.0003 0.5861 0.8520 3 dominant HG002 HG002 chr14:92893149:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr14:92898288:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr14:93015721:G:A 1,.,. -1 -1 -1 -1 -1 -1 ITPK1 50_intron 31,.,. 0.516129,.,. ITPK1/intron/;ITPK1/non_coding/ 0.0375 0.4675 0.7100 2 dominant HG002 HG002 chr14:93041827:T:C 1,.,. 1.9714e-05 0 3 -1 -1 -1 ITPK1 50_intron 27,.,. 0.333333,.,. ITPK1/intron/;ITPK1/non_coding/ 0.0375 0.4675 0.7100 2 dominant HG002 HG002 chr14:93193237:CATGAG:C 1,.,. -1 -1 -1 -1 -1 -1 AL110118.2 50_intron 34,.,. 0.5,.,. AL110118.2/intron/;AL110118.2/non_coding/ dominant HG002 HG002 chr14:93193243:C:T 1,.,. -1 -1 -1 -1 -1 -1 AL110118.2 50_intron 34,.,. 0.5,.,. AL110118.2/intron/;AL110118.2/non_coding/ dominant HG002 HG002 chr14:93403130:A:G 1,.,. -1 -1 -1 -1 -1 -1 UNC79 50_intron 36,.,. 0.527778,.,. UNC79/intron/ 1.0000 0.1264 0.1680 0 recessive HG002 HG002 chr14:93459970:C:T 2,.,. -1 -1 -1 -1 -1 -1 UNC79 50_intron 38,.,. 1,.,. UNC79/intron/ 1.0000 0.1264 0.1680 0 recessive HG002 HG002 chr14:93459971:T:G 2,.,. -1 -1 -1 -1 -1 -1 UNC79 50_intron 38,.,. 1,.,. UNC79/intron/ 1.0000 0.1264 0.1680 0 recessive HG002 HG002 chr14:93459994:C:T 2,.,. -1 -1 -1 -1 -1 -1 UNC79 50_intron 37,.,. 1,.,. UNC79/intron/ 1.0000 0.1264 0.1680 0 recessive HG002 HG002 chr14:93459995:A:G 2,.,. -1 -1 -1 -1 -1 -1 UNC79 50_intron 38,.,. 1,.,. UNC79/intron/ 1.0000 0.1264 0.1680 0 recessive HG002 HG002 chr14:93460001:T:C 2,.,. -1 -1 -1 -1 -1 -1 UNC79 50_intron 37,.,. 1,.,. UNC79/intron/ 1.0000 0.1264 0.1680 0 recessive HG002 HG002 chr14:93460008:G:A 2,.,. -1 -1 -1 -1 -1 -1 UNC79 50_intron 38,.,. 1,.,. UNC79/intron/ 1.0000 0.1264 0.1680 0 recessive HG002 HG002 chr14:93460010:TGGTCAC:T 2,.,. -1 -1 -1 -1 -1 -1 UNC79 50_intron 38,.,. 1,.,. UNC79/intron/ 1.0000 0.1264 0.1680 0 recessive HG002 HG002 chr14:93460019:C:T 2,.,. -1 -1 -1 -1 -1 -1 UNC79 50_intron 38,.,. 1,.,. UNC79/intron/ 1.0000 0.1264 0.1680 0 recessive HG002 HG002 chr14:93460020:C:T 2,.,. -1 -1 -1 -1 -1 -1 UNC79 50_intron 38,.,. 1,.,. UNC79/intron/ 1.0000 0.1264 0.1680 0 recessive HG002 HG002 chr14:93460021:A:G 2,.,. -1 -1 -1 -1 -1 -1 UNC79 50_intron 38,.,. 1,.,. UNC79/intron/ 1.0000 0.1264 0.1680 0 dominant HG002 HG002 chr14:93540572:G:A 1,.,. -1 -1 -1 -1 -1 -1 UNC79 50_intron 44,.,. 0.431818,.,. UNC79/intron/ 1.0000 0.1264 0.1680 0 dominant HG002 HG002 chr14:93601710:A:G 1,.,. -1 -1 -1 -1 -1 -1 UNC79 50_intron 38,.,. 0.578947,.,. UNC79/intron/ 1.0000 0.1264 0.1680 0 dominant HG002 HG002 chr14:93764574:T:C 1,.,. 1.31303e-05 0 2 -1 -1 -1 PRIMA1 50_intron 21,.,. 0.47619,.,. PRIMA1/intron/ 0.0749 0.5335 1.0530 5 dominant HG002 HG002 chr14:93782275:A:AATACATAC 1,.,. -1 -1 -1 -1 -1 -1 PRIMA1 50_intron 26,.,. 0.576923,.,. PRIMA1/intron/ 0.0749 0.5335 1.0530 5 dominant HG002 HG002 chr14:93871375:T:C 1,.,. 6.58337e-06 0 1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr14:93887340:AGATCCAGTTTGTT:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.275,.,. dominant HG002 HG002 chr14:93887356:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.275,.,. dominant HG002 HG002 chr14:93901107:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.631579,.,. dominant HG002 HG002 chr14:93901108:G:T 1,.,. -1 -1 -1 0.00140154 0 4 19,.,. 0.631579,.,. dominant HG002 HG002 chr14:94066722:C:G 1,.,. -1 -1 -1 -1 -1 -1 DDX24 50_intron 33,.,. 0.333333,.,. DDX24/intron/;DDX24/non_coding/ 0.8657 0.3776 0.5210 1 dominant HG002 HG002 chr14:94135662:C:CGAGATTGTAGT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr14:94135664:G:A 1,.,. 2.63508e-05 0 4 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr14:94189134:G:A 1,.,. -1 -1 -1 -1 -1 -1 PPP4R4 50_intron 43,.,. 0.395349,.,. PPP4R4/intron/;PPP4R4/non_coding/ 0.0000 0.5510 0.7150 2 recessive HG002 HG002 chr14:94309319:T:A 2,.,. -1 -1 -1 -1 -1 -1 SERPINA6 50_intron 46,.,. 1,.,. SERPINA6/intron/ 0.0000 0.6938 1.0080 5 Corticosteroid-binding globulin deficiency 0.000 dominant HG002 HG002 chr14:94537970:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr14:94655496:A:G 1,.,. 3.45519e-05 0 4 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr14:94671790:GCTTTT:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr14:94671798:G:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr14:94678136:G:A 1,.,. 2.62905e-05 0 4 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr14:94710479:G:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.703704,.,. dominant HG002 HG002 chr14:94752584:G:A 1,.,. 2.62881e-05 0 4 -1 -1 -1 31,.,. 0.354839,.,. dominant HG002 HG002 chr14:94769394:C:A 1,.,. -1 -1 -1 -1 -1 -1 GSC 50_intron 23,.,. 0.434783,.,. GSC/intron/ 0.0001 0.8802 1.3980 7 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 0.000 dominant HG002 HG002 chr14:94916227:A:T 1,.,. 2.02151e-05 0 3 -1 -1 -1 33,.,. 0.606061,.,. dominant HG002 HG002 chr14:95195815:A:G 1,.,. -1 -1 -1 -1 -1 -1 CLMN 50_intron 36,.,. 0.388889,.,. CLMN/intron/;CLMN/non_coding/ 0.0000 0.6020 0.7550 3 dominant HG002 HG002 chr14:95293274:T:TTTCCTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCCTCCCTCCTTCTTTTCCTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCTCTCCTTCCTTCCCTCCCTCCCTCCTTCTTTCCCCCCCTTCCTTCCCTCCCTCCTTCCTTCTTTTCCTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCC 1,.,. -1 -1 -1 -1 -1 -1 CLMN 50_intron 19,.,. 0.421053,.,. CLMN/intron/ 0.0000 0.6020 0.7550 3 dominant HG002 HG002 chr14:95490092:G:T 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.681818,.,. recessive HG002 HG002 chr14:95614210:CTCCTGTCA:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr14:95614219:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr14:96156391:A:AAGAG 2,.,. 5.17661e-05 0 6 0.0133146 1 38 35,.,. 1,.,. dominant HG002 HG002 chr14:96632267:A:AG 1,.,. 1.3146e-05 0 2 -1 -1 -1 37,.,. 0.621622,.,. recessive HG002 HG002 chr14:96907323:C:CTGTA 2,.,. -1 -1 -1 -1 -1 -1 VRK1 50_intron 34,.,. 1,.,. VRK1/intron/ 0.0000 0.5536 0.7470 3 Neuronopathy, distal hereditary motor, autosomal recessive 10;Pontocerebellar hypoplasia type 1A 0.000 recessive HG002 HG002 chr14:96907324:C:G 2,.,. -1 -1 -1 -1 -1 -1 VRK1 50_intron 34,.,. 1,.,. VRK1/intron/ 0.0000 0.5536 0.7470 3 Neuronopathy, distal hereditary motor, autosomal recessive 10;Pontocerebellar hypoplasia type 1A 0.000 recessive HG002 HG002 chr14:97448095:T:A 2,.,. 0.000261051 0 3 -1 -1 -1 45,.,. 1,.,. dominant HG002 HG002 chr14:97801151:GATAGATAGGTAGATAA:G 1,.,. 5.07485e-05 0 2 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr14:97970484:G:C 1,.,. 1.97189e-05 0 3 -1 -1 -1 45,.,. 0.622222,.,. dominant HG002 HG002 chr14:97979652:T:C 1,.,. 1.9706e-05 0 3 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr14:98074742:G:C 1,.,. 1.97288e-05 0 3 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr14:98164261:T:C 1,.,. -1 -1 -1 0.00140154 0 4 40,.,. 0.45,.,. dominant HG002 HG002 chr14:98918514:C:A 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.409091,.,. dominant HG002 HG002 chr14:99249357:G:A 1,.,. 1.31506e-05 0 2 -1 -1 -1 BCL11B 50_intron 27,.,. 0.407407,.,. BCL11B/intron/ 0.9954 0.2722 0.4620 1 Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities;Immunodeficiency 49 0.000 dominant HG002 HG002 chr14:99269523:C:CCG 1,.,. -1 -1 -1 -1 -1 -1 BCL11B 50_intron 21,.,. 0.52381,.,. BCL11B/intron/ 0.9954 0.2722 0.4620 1 Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities;Immunodeficiency 49 0.000 recessive HG002 HG002 chr14:99570863:GCAAC:G 2,.,. -1 -1 -1 -1 -1 -1 CCDC85C 50_intron 27,.,. 1,.,. CCDC85C/intron/ 0.0002 0.6385 0.9470 4 recessive HG002 HG002 chr14:99570869:A:C 2,.,. -1 -1 -1 -1 -1 -1 CCDC85C 50_intron 27,.,. 1,.,. CCDC85C/intron/ 0.0002 0.6385 0.9470 4 recessive HG002 HG002 chr14:100746634:A:T 2,.,. -1 -1 -1 0.00105116 0 3 35,.,. 1,.,. dominant HG002 HG002 chr14:100886738:TGAAATACAA:T 1,.,. -1 -1 -1 -1 -1 -1 RTL1 50_intron 32,.,. 0.4375,.,. RTL1/intron/ 0.3164 0.0000 1.8690 9 0.000 dominant HG002 HG002 chr14:100886748:A:T 1,.,. -1 -1 -1 -1 -1 -1 RTL1 50_intron 33,.,. 0.424242,.,. RTL1/intron/ 0.3164 0.0000 1.8690 9 0.000 dominant HG002 HG002 chr14:100916697:TCTATTCA:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr14:101233040:A:ACCCCGCACCACTCCT 1,.,. 2.70944e-05 0 3 -1 -1 -1 20,.,. 0.5,.,. dominant HG002 HG002 chr14:101450020:A:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr14:101625913:A:G 1,.,. 9.13776e-06 0 1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr14:101692081:A:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr14:102105220:A:C 1,.,. -1 -1 -1 -1 -1 -1 HSP90AA1 50_intron 25,.,. 0.4,.,. HSP90AA1/intron/ 1.0000 0.2382 0.3620 0 dominant HG002 HG002 chr14:102823880:G:GCAGCCT 1,.,. 5.21404e-05 0 2 -1 -1 -1 TRAF3 50_intron 42,.,. 0.47619,.,. TRAF3/intron/ 1.0000 0.2020 0.3210 0 Immunodeficiency 132b;Herpes simplex encephalitis, susceptibility to, 3 0.000 dominant HG002 HG002 chr14:102837122:G:T 1,.,. -1 -1 -1 -1 -1 -1 TRAF3 50_intron 44,.,. 0.340909,.,. TRAF3/intron/ 1.0000 0.2020 0.3210 0 Immunodeficiency 132b;Herpes simplex encephalitis, susceptibility to, 3 0.000 dominant HG002 HG002 chr14:103292200:T:C 1,.,. 1.32779e-05 0 2 -1 -1 -1 29,.,. 0.344828,.,. dominant HG002 HG002 chr14:103357148:T:C 1,.,. -1 -1 -1 0.00105116 0 3 35,.,. 0.371429,.,. dominant HG002 HG002 chr14:103358938:A:G 1,.,. 2.62971e-05 0 4 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr14:103390467:T:TG 1,.,. 0.00769231 0 2 -1 -1 -1 MARK3 50_intron 37,.,. 0.459459,.,. MARK3/intron/;MARK3/non_coding/ 0.0001 0.5357 0.7300 2 Visual impairment and progressive phthisis bulbi 0.000 recessive HG002 HG002 chr14:103417209:GGA:G 2,.,. -1 -1 -1 -1 -1 -1 MARK3 50_intron 37,.,. 1,.,. MARK3/intron/;MARK3/non_coding/ 0.0001 0.5357 0.7300 2 Visual impairment and progressive phthisis bulbi 0.000 recessive HG002 HG002 chr14:103417213:C:G 2,.,. -1 -1 -1 -1 -1 -1 MARK3 50_intron 37,.,. 1,.,. MARK3/intron/;MARK3/non_coding/ 0.0001 0.5357 0.7300 2 Visual impairment and progressive phthisis bulbi 0.000 recessive HG002 HG002 chr14:103448889:A:G 2,.,. -1 -1 -1 -1 -1 -1 MARK3 50_intron 41,.,. 1,.,. MARK3/intron/;MARK3/non_coding/ 0.0001 0.5357 0.7300 2 Visual impairment and progressive phthisis bulbi 0.000 dominant HG002 HG002 chr14:103777762:G:A 1,.,. 2.02224e-05 0 3 -1 -1 -1 PPP1R13B 50_intron 36,.,. 0.527778,.,. PPP1R13B/intron/;PPP1R13B/non_coding/ 0.9974 0.3611 0.4660 1 dominant HG002 HG002 chr14:103835523:G:T 1,.,. -1 -1 -1 -1 -1 -1 PPP1R13B 50_intron 24,.,. 0.416667,.,. PPP1R13B/intron/;PPP1R13B/non_coding/ 0.9974 0.3611 0.4660 1 dominant HG002 HG002 chr14:103835524:G:C 1,.,. -1 -1 -1 -1 -1 -1 PPP1R13B 50_intron 24,.,. 0.416667,.,. PPP1R13B/intron/;PPP1R13B/non_coding/ 0.9974 0.3611 0.4660 1 dominant HG002 HG002 chr14:103893024:A:T 1,.,. 1.37429e-05 0 2 -1 -1 -1 25,.,. 0.52,.,. dominant HG002 HG002 chr14:103985762:G:C 1,.,. -1 -1 -1 -1 -1 -1 TDRD9 50_intron 37,.,. 0.486486,.,. TDRD9/intron/ 0.0000 0.7469 0.8930 4 Spermatogenic failure 30 0.000 dominant HG002 HG002 chr14:104023779:C:T 1,.,. 1.31406e-05 0 2 -1 -1 -1 TDRD9 50_intron 33,.,. 0.424242,.,. TDRD9/intron/ 0.0000 0.7469 0.8930 4 Spermatogenic failure 30 0.000 dominant HG002 HG002 chr14:104069056:G:T 1,.,. 1.31439e-05 0 2 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr14:104204010:C:CCATA 1,.,. -1 -1 -1 -1 -1 -1 13,.,. 0.384615,.,. dominant HG002 HG002 chr14:104269939:G:A 1,.,. 1.31401e-05 0 2 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr14:104273325:G:A 1,.,. 1.31446e-05 0 2 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr14:104383737:C:T 1,.,. 1.31517e-05 0 2 -1 -1 -1 19,.,. 0.421053,.,. dominant HG002 HG002 chr14:104430704:A:C 1,.,. -1 -1 -1 -1 -1 -1 16,.,. 0.5,.,. dominant HG002 HG002 chr14:104430718:A:G 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.529412,.,. dominant HG002 HG002 chr14:104905495:T:C 1,.,. -1 -1 -1 0.000700771 0 2 29,.,. 0.517241,.,. dominant HG002 HG002 chr14:104905624:A:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr14:104905625:G:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr14:104905839:C:A 1,.,. -1 -1 -1 0.00105116 0 3 29,.,. 0.517241,.,. recessive HG002 HG002 chr14:105110349:T:G 2,.,. 0.00146363 0 13 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr14:105110350:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr14:105110353:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chr14:105316992:A:T 1,.,. 2.62895e-05 0 4 0.000700771 0 2 PACS2 50_intron 29,.,. 0.586207,.,. PACS2/intron/;PACS2/non_coding/ 0.3336 0.4068 0.5610 1 Developmental and epileptic encephalopathy, 66 0.000 recessive HG002 HG002 chr14:105626162:G:T 2,.,. 1.31454e-05 0 1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr14:105636735:G:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr14:105636771:A:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr14:105636778:CCATTTTG:C 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr14:105636790:G:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr14:105636980:T:TACACTTCATC 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr14:105636984:T:C 2,.,. -1 -1 -1 0.00105116 0 3 14,.,. 1,.,. dominant HG002 HG002 chr14:105638940:G:A 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.222222,.,. dominant HG002 HG002 chr14:105638968:CTTA:C 1,.,. -1 -1 -1 0.000700771 0 2 18,.,. 0.222222,.,. dominant HG002 HG002 chr14:105662358:C:G 1,.,. -1 -1 -1 0.000700771 0 2 19,.,. 0.526316,.,. dominant HG002 HG002 chr14:105662359:T:G 1,.,. -1 -1 -1 0.000700771 0 2 19,.,. 0.526316,.,. dominant HG002 HG002 chr14:105711129:C:T 1,.,. 1.50873e-05 0 2 -1 -1 -1 19,.,. 0.736842,.,. dominant HG002 HG002 chr14:105711749:C:A 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.714286,.,. dominant HG002 HG002 chr14:105745343:G:A 1,.,. -1 -1 -1 0.000700771 0 2 19,.,. 0.473684,.,. dominant HG002 HG002 chr14:105773014:CTGTGGCTGCTCTGCCCTGGTGCTCTGAGCTCCAGGAG:C 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.428571,.,. recessive HG002 HG002 chr14:105858026:C:T 2,.,. 0.000102409 2 15 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr14:105858909:C:G 2,.,. 0.000154707 0 23 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr14:105859776:C:G 2,.,. 0.000241945 2 36 0.00210231 1 6 13,.,. 1,.,. recessive HG002 HG002 chr14:105859965:C:G 2,.,. 0.000378225 4 55 0.0024527 1 7 13,.,. 1,.,. recessive HG002 HG002 chr14:105860112:C:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr14:106033042:A:G 2,.,. 0.000666891 0 99 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr14:106057189:A:ACATATT 2,.,. 0.000775643 0 107 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr14:106081696:C:A 2,.,. -1 -1 -1 0.00105116 1 3 25,.,. 1,.,. recessive HG002 HG002 chr14:106081711:T:C 2,.,. -1 -1 -1 0.00105116 1 3 25,.,. 1,.,. dominant HG002 HG002 chr14:106351352:G:C 1,.,. -1 -1 -1 0.00105116 0 3 45,.,. 0.555556,.,. dominant HG002 HG002 chr14:106421710:G:GTCTCGCCCCACCTGGGTCCTACAATC 1,.,. -1 -1 -1 -1 -1 -1 14,.,. 0.571429,.,. dominant HG002 HG002 chr14:106421741:G:A 1,.,. -1 -1 -1 -1 -1 -1 IGHV4-39 30_synonymous 14,.,. 0.571429,.,. IGHV4-39/synonymous/ENST00000390619 dominant HG002 HG002 chr14:106421819:C:G 1,.,. -1 -1 -1 -1 -1 -1 IGHV4-39 30_synonymous 14,.,. 0.571429,.,. IGHV4-39/synonymous/ENST00000390619 dominant HG002 HG002 chr14:106421853:C:T 1,.,. -1 -1 -1 -1 -1 -1 IGHV4-39 14_missense 14,.,. 0.571429,.,. IGHV4-39/missense/ENST00000390619 dominant HG002 HG002 chr14:106421899:C:T 1,.,. -1 -1 -1 -1 -1 -1 IGHV4-39 14_missense 14,.,. 0.571429,.,. IGHV4-39/missense/ENST00000390619 dominant HG002 HG002 chr14:106422379:C:T 1,.,. -1 -1 -1 -1 -1 -1 14,.,. 0.571429,.,. dominant HG002 HG002 chr14:106422411:C:T 1,.,. -1 -1 -1 -1 -1 -1 14,.,. 0.571429,.,. dominant HG002 HG002 chr14:106423704:A:T 1,.,. -1 -1 -1 -1 -1 -1 13,.,. 0.538462,.,. recessive HG002 HG002 chr14:106556200:T:TTTCCTTCC 2,.,. -1 -1 -1 0.0119131 2 34 20,.,. 1,.,. recessive HG002 HG002 chr14:106558448:T:C 2,.,. 0.00632712 3 963 0.00525578 1 15 19,.,. 1,.,. recessive HG002 HG002 chr14:106613000:A:G 2,.,. 6.57125e-05 0 10 0.000700771 0 2 19,.,. 1,.,. recessive HG002 HG002 chr14:106616143:A:G 2,.,. 2.63244e-05 0 4 0.00105116 0 3 21,.,. 1,.,. dominant HG002 HG002 chr14:106671646:T:C 1,.,. 2.62881e-05 0 4 0.000700771 0 2 56,.,. 0.553571,.,. recessive HG002 HG002 chr14:106719178:T:TAAAAATAAA 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr14:106719197:GCTAGGGAGAA:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr14:106719674:TTTCTTC:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr14:106719681:T:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr14:106722067:T:C 2,.,. 9.56572e-05 3 10 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr14:106722085:G:T 2,.,. 6.71398e-05 2 7 0.00210231 3 6 10,.,. 1,.,. recessive HG002 HG002 chr14:106722123:C:T 2,.,. -1 -1 -1 0.00140154 1 4 10,.,. 1,.,. recessive HG002 HG002 chr14:106722530:C:T 2,.,. -1 -1 -1 0.0049054 4 14 10,.,. 1,.,. recessive HG002 HG002 chr14:106723121:G:A 2,.,. 1.96213e-05 0 2 0.00315347 4 9 9,.,. 1,.,. dominant HG002 HG002 chr14:106856086:T:C 1,.,. 1.97024e-05 0 3 0.000700771 0 2 45,.,. 0.577778,.,. dominant HG002 HG002 chr14:106871359:T:A 1,.,. 1.97329e-05 0 3 0.000700771 0 2 24,.,. 0.458333,.,. dominant HG002 HG002 chr15:17081762:C:CATGCA 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.296296,.,. recessive HG002 HG002 chr15:17102157:C:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr15:17102339:A:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr15:17102395:T:C 2,.,. -1 -1 -1 0.00210231 3 6 8,.,. 1,.,. recessive HG002 HG002 chr15:17102450:C:A 2,.,. -1 -1 -1 0.00280308 4 8 8,.,. 1,.,. recessive HG002 HG002 chr15:17102541:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr15:17102542:G:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr15:17102735:T:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr15:17102815:G:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr15:17103239:A:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr15:17103319:T:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr15:17103344:T:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr15:17103362:T:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr15:17103600:C:T 2,.,. -1 -1 -1 0.00280308 4 8 8,.,. 1,.,. recessive HG002 HG002 chr15:17103627:C:CAAGTAACTTCAGATAA 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr15:17103728:T:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr15:17104010:T:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr15:17104100:A:C 2,.,. -1 -1 -1 0.00280308 4 8 8,.,. 1,.,. recessive HG002 HG002 chr15:17104118:G:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr15:17104168:T:TC 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr15:17107230:T:C 2,.,. -1 -1 -1 0.00280308 4 8 12,.,. 1,.,. recessive HG002 HG002 chr15:17107231:G:T 2,.,. -1 -1 -1 0.00140154 2 4 12,.,. 1,.,. recessive HG002 HG002 chr15:17108722:C:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr15:17108723:T:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr15:17108752:A:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr15:17108756:G:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr15:17108769:TA:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr15:17114709:A:G 2,.,. -1 -1 -1 0.00210231 3 6 8,.,. 1,.,. recessive HG002 HG002 chr15:17115000:A:C 2,.,. -1 -1 -1 0.00175193 2 5 6,.,. 1,.,. recessive HG002 HG002 chr15:17165854:A:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr15:17399331:G:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr15:18381276:C:A 2,.,. -1 -1 -1 0.00140154 2 4 8,.,. 1,.,. recessive HG002 HG002 chr15:18799912:C:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr15:18799916:T:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr15:18799944:T:C 2,.,. -1 -1 -1 0.00105116 0 3 16,.,. 1,.,. recessive HG002 HG002 chr15:18799963:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr15:18800060:A:G 2,.,. -1 -1 -1 0.00140154 0 4 16,.,. 1,.,. recessive HG002 HG002 chr15:18800064:C:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr15:18800886:A:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr15:18854897:T:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr15:18854898:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr15:18854921:A:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr15:18854937:T:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr15:18854953:T:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr15:18855039:A:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr15:18855068:G:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr15:18855078:A:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr15:18855079:A:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr15:18855098:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr15:18855112:G:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr15:18855132:T:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr15:18855149:G:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr15:18855154:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr15:18855189:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr15:18855201:A:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr15:19182847:GGA:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr15:19182850:G:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr15:19251398:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr15:19251411:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr15:19654294:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. dominant HG002 HG002 chr15:19782159:T:G 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.45,.,. dominant HG002 HG002 chr15:19954446:CAA:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr15:20258230:G:T 1,.,. -1 -1 -1 -1 -1 -1 AC126603.1 53_non_coding 32,.,. 0.40625,.,. AC126603.1/non_coding/ dominant HG002 HG002 chr15:20258914:C:T 1,.,. -1 -1 -1 -1 -1 -1 AC126603.1 53_non_coding 33,.,. 0.363636,.,. AC126603.1/non_coding/ dominant HG002 HG002 chr15:20268938:C:T 1,.,. -1 -1 -1 -1 -1 -1 AC126603.1 53_non_coding 33,.,. 0.393939,.,. AC126603.1/non_coding/ dominant HG002 HG002 chr15:20270812:G:A 1,.,. -1 -1 -1 -1 -1 -1 AC126603.1 53_non_coding 35,.,. 0.428571,.,. AC126603.1/non_coding/ dominant HG002 HG002 chr15:20310685:T:TGAAATTGAAA 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.365854,.,. dominant HG002 HG002 chr15:20426815:T:C 1,.,. -1 -1 -1 -1 -1 -1 HERC2P3 53_non_coding 27,.,. 0.333333,.,. HERC2P3/non_coding/ recessive HG002 HG002 chr15:20483966:C:A 2,.,. -1 -1 -1 -1 -1 -1 HERC2P3 53_non_coding 12,.,. 1,.,. HERC2P3/non_coding/ recessive HG002 HG002 chr15:20511050:TAAAAAA:T 2,.,. 2.90225e-05 0 1 0.029082 4 83 11,.,. 1,.,. recessive HG002 HG002 chr15:20521296:G:T 2,.,. -1 -1 -1 0.0241766 0 69 18,.,. 1,.,. recessive HG002 HG002 chr15:20531797:C:T 2,.,. -1 -1 -1 0.000700771 0 2 16,.,. 1,.,. recessive HG002 HG002 chr15:20688072:AAAGAG:A 2,.,. -1 -1 -1 0.00350385 1 10 NBEAP1 53_non_coding 6,.,. 1,.,. NBEAP1/non_coding/ recessive HG002 HG002 chr15:20688082:G:A 2,.,. 2.36455e-05 1 3 -1 -1 -1 NBEAP1 53_non_coding 6,.,. 1,.,. NBEAP1/non_coding/ recessive HG002 HG002 chr15:21463564:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chr15:21585933:C:T 1,.,. -1 -1 -1 -1 -1 -1 LINC02203 50_intron 42,.,. 0.404762,.,. LINC02203/non_coding/;LINC02203/intron/ recessive HG002 HG002 chr15:21942119:A:T 2,.,. -1 -1 -1 -1 -1 -1 NF1P2 53_non_coding 6,.,. 1,.,. NF1P2/non_coding/ dominant HG002 HG002 chr15:22211411:G:C 1,.,. -1 -1 -1 -1 -1 -1 8,.,. 0.625,.,. dominant HG002 HG002 chr15:22228829:C:CTTTCAGA 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.678571,.,. dominant HG002 HG002 chr15:22228831:G:T 1,.,. 6.59517e-06 0 1 -1 -1 -1 28,.,. 0.678571,.,. dominant HG002 HG002 chr15:22251800:G:GTGTGGCA 1,.,. 1.73217e-05 0 2 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr15:22251819:A:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr15:22260837:C:CCA 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.461538,.,. dominant HG002 HG002 chr15:22260838:T:C 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.454545,.,. dominant HG002 HG002 chr15:22260844:C:G 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.538462,.,. dominant HG002 HG002 chr15:22468432:T:C 1,.,. -1 -1 -1 -1 -1 -1 GOLGA6L22 36_3_prime_utr 42,.,. 0.52381,.,. GOLGA6L22/3_prime_utr/ENST00000620691;GOLGA6L22/3_prime_utr/ENST00000622895 0.0000 1.1533 1.7450 8 dominant HG002 HG002 chr15:22536021:C:G 1,.,. -1 -1 -1 -1 -1 -1 HERC2P2 53_non_coding 26,.,. 0.5,.,. HERC2P2/non_coding/ dominant HG002 HG002 chr15:22613137:G:C 1,.,. -1 -1 -1 0.00105116 0 3 GOLGA8IP 53_non_coding 28,.,. 0.5,.,. GOLGA8IP/non_coding/ dominant HG002 HG002 chr15:22617994:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr15:22652091:TCC:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.68,.,. dominant HG002 HG002 chr15:22652094:A:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.68,.,. dominant HG002 HG002 chr15:22652096:G:C 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.673469,.,. dominant HG002 HG002 chr15:22652099:A:C 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.68,.,. recessive HG002 HG002 chr15:23364160:CCAGA:C 2,.,. -1 -1 -1 -1 -1 -1 GOLGA8S 50_intron 39,.,. 1,.,. GOLGA8S/non_coding/;GOLGA8S/intron/ 0.0003 0.8814 1.4540 8 recessive HG002 HG002 chr15:23364167:C:T 2,.,. -1 -1 -1 -1 -1 -1 GOLGA8S 50_intron 39,.,. 1,.,. GOLGA8S/non_coding/;GOLGA8S/intron/ 0.0003 0.8814 1.4540 8 recessive HG002 HG002 chr15:23364169:CTG:C 2,.,. -1 -1 -1 -1 -1 -1 GOLGA8S 50_intron 39,.,. 1,.,. GOLGA8S/non_coding/;GOLGA8S/intron/ 0.0003 0.8814 1.4540 8 recessive HG002 HG002 chr15:23364172:G:C 2,.,. -1 -1 -1 -1 -1 -1 GOLGA8S 50_intron 38,.,. 1,.,. GOLGA8S/non_coding/;GOLGA8S/intron/ 0.0003 0.8814 1.4540 8 recessive HG002 HG002 chr15:23426369:A:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. dominant HG002 HG002 chr15:23594355:AAAAC:A 1,.,. -1 -1 -1 -1 -1 -1 MKRN3 50_intron 39,.,. 0.358974,.,. MKRN3/intron/ 0.2834 0.4295 1.6650 8 Precocious puberty, central, 2;Prader-Willi syndrome 0.000 recessive HG002 HG002 chr15:23594363:C:A 2,.,. -1 -1 -1 0.000700771 0 2 MKRN3 50_intron 36,.,. 1,.,. MKRN3/intron/ 0.2834 0.4295 1.6650 8 Precocious puberty, central, 2;Prader-Willi syndrome 0.000 dominant HG002 HG002 chr15:23883897:TTATA:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr15:23883903:T:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr15:23963451:T:TTGTG 1,.,. 5.97907e-05 0 2 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr15:23963452:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr15:24354696:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. dominant HG002 HG002 chr15:24521225:T:C 1,.,. -1 -1 -1 0.00105116 0 3 34,.,. 0.558824,.,. recessive HG002 HG002 chr15:24540464:G:GGTTTGTTT 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr15:24554194:T:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr15:24554195:AGGCCAT:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr15:24554537:T:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.372093,.,. dominant HG002 HG002 chr15:24696031:A:C 1,.,. 1.97075e-05 0 3 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr15:25279814:G:A 1,.,. 2.63071e-05 0 4 -1 -1 -1 51,.,. 0.588235,.,. dominant HG002 HG002 chr15:25887277:C:CCTCCTT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.611111,.,. dominant HG002 HG002 chr15:25887280:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.621622,.,. dominant HG002 HG002 chr15:25887281:C:T 1,.,. -1 -1 -1 0.00105116 0 3 37,.,. 0.621622,.,. recessive HG002 HG002 chr15:25982746:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr15:26290564:A:AAAG 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.371429,.,. recessive HG002 HG002 chr15:26328030:C:CAAGATCA 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr15:26328032:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr15:26634909:A:ATC 1,.,. 1.89459e-05 0 1 -1 -1 -1 GABRB3 50_intron 36,.,. 0.444444,.,. GABRB3/intron/;GABRB3/non_coding/ 0.9991 0.2805 0.4390 1 Developmental and epileptic encephalopathy, 43;Epilepsy, childhood absence, susceptibility to, 5 0.000 dominant HG002 HG002 chr15:26764205:T:A 1,.,. 0.000142066 0 4 0.000700771 0 2 GABRB3 50_intron 29,.,. 0.37931,.,. GABRB3/intron/;GABRB3/non_coding/ 0.9991 0.2805 0.4390 1 Developmental and epileptic encephalopathy, 43;Epilepsy, childhood absence, susceptibility to, 5 0.000 dominant HG002 HG002 chr15:26895823:A:AAGAAG 1,.,. -1 -1 -1 -1 -1 -1 GABRB3;GABRA5 50_intron 36,.,. 0.416667,.,. GABRB3/intron/;GABRA5/non_coding/ 0.9991;;0.7940 0.2805;;0.3684 0.4390;;0.5600 1;;1 Developmental and epileptic encephalopathy, 43;Epilepsy, childhood absence, susceptibility to, 5;;Developmental and epileptic encephalopathy, 79 0.000;;0.000 dominant HG002 HG002 chr15:27388163:GAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGA:G 1,.,. -1 -1 -1 0.000700771 0 2 GABRG3 50_intron 28,.,. 0.607143,.,. GABRG3/intron/ 0.3612 0.4045 0.6000 2 dominant HG002 HG002 chr15:27593950:TAGCAAATTATCCA:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr15:27593965:A:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr15:27901147:G:C 1,.,. -1 -1 -1 -1 -1 -1 OCA2 50_intron 35,.,. 0.371429,.,. OCA2/intron/ 0.0000 0.7010 0.8690 4 Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 0.000 dominant HG002 HG002 chr15:27922678:G:GGTGT 1,.,. -1 -1 -1 -1 -1 -1 OCA2 50_intron 41,.,. 0.487805,.,. OCA2/intron/ 0.0000 0.7010 0.8690 4 Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 0.000 dominant HG002 HG002 chr15:27967877:A:ATCATTGGTTGGTTCTGTTCTTTCACTGACGTCCTGGAATAAGTCAGCAGCGTCATTGGTTGGTTCTGTTCTTTCACTGACGTCCTGGAATAAGTCAGCAGCG 1,.,. -1 -1 -1 0.000700771 0 2 OCA2 50_intron 30,.,. 0.433333,.,. OCA2/intron/ 0.0000 0.7010 0.8690 4 Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 0.000 recessive HG002 HG002 chr15:28446270:G:GATTTTTAT 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. recessive HG002 HG002 chr15:28446272:A:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. dominant HG002 HG002 chr15:28619039:A:G 1,.,. -1 -1 -1 0.000700771 0 2 HERC2P9 53_non_coding 40,.,. 0.6,.,. HERC2P9/non_coding/ dominant HG002 HG002 chr15:28642516:C:G 1,.,. -1 -1 -1 -1 -1 -1 HERC2P9 53_non_coding 34,.,. 0.470588,.,. HERC2P9/non_coding/ dominant HG002 HG002 chr15:28929726:G:A 1,.,. 2.62833e-05 0 4 -1 -1 -1 APBA2 50_intron 39,.,. 0.487179,.,. APBA2/intron/;APBA2/non_coding/ 0.7816 0.3861 0.5240 1 dominant HG002 HG002 chr15:29439296:C:A 1,.,. -1 -1 -1 -1 -1 -1 FAM189A1 50_intron 36,.,. 0.472222,.,. FAM189A1/intron/;FAM189A1/non_coding/ 0.0000 0.8286 1.1240 6 dominant HG002 HG002 chr15:29556762:G:GGC 1,.,. -1 -1 -1 0.00105116 0 3 FAM189A1 50_intron 23,.,. 0.608696,.,. FAM189A1/intron/;FAM189A1/non_coding/ 0.0000 0.8286 1.1240 6 dominant HG002 HG002 chr15:29556767:C:G 1,.,. 3.60614e-05 0 4 -1 -1 -1 FAM189A1 50_intron 23,.,. 0.608696,.,. FAM189A1/intron/;FAM189A1/non_coding/ 0.0000 0.8286 1.1240 6 recessive HG002 HG002 chr15:29883278:G:GGGTC 2,.,. -1 -1 -1 -1 -1 -1 TJP1 50_intron 40,.,. 1,.,. TJP1/intron/;TJP1/non_coding/ 1.0000 0.2101 0.2750 0 recessive HG002 HG002 chr15:29883279:C:T 2,.,. -1 -1 -1 -1 -1 -1 TJP1 50_intron 40,.,. 1,.,. TJP1/intron/;TJP1/non_coding/ 1.0000 0.2101 0.2750 0 dominant HG002 HG002 chr15:29978349:GATTTACGT:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr15:29978358:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr15:30103351:CACACACATAG:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr15:30125340:C:T 1,.,. -1 -1 -1 -1 -1 -1 ULK4P3 53_non_coding 38,.,. 0.447368,.,. ULK4P3/non_coding/ dominant HG002 HG002 chr15:30129552:G:A 1,.,. -1 -1 -1 -1 -1 -1 ULK4P3 53_non_coding 34,.,. 0.588235,.,. ULK4P3/non_coding/ recessive HG002 HG002 chr15:30139029:CCA:C 2,.,. -1 -1 -1 -1 -1 -1 GOLGA8T 50_intron 31,.,. 1,.,. GOLGA8T/intron/;GOLGA8T/non_coding/ 0.0096 0.5721 0.9470 4 recessive HG002 HG002 chr15:30139032:T:A 2,.,. -1 -1 -1 -1 -1 -1 GOLGA8T 50_intron 31,.,. 1,.,. GOLGA8T/intron/;GOLGA8T/non_coding/ 0.0096 0.5721 0.9470 4 dominant HG002 HG002 chr15:30378885:C:T 1,.,. -1 -1 -1 0.00105116 0 3 CHRFAM7A 50_intron 41,.,. 0.487805,.,. CHRFAM7A/intron/;CHRFAM7A/non_coding/ 0.7605 0.2696 0.6970 2 dominant HG002 HG002 chr15:30493469:C:T 1,.,. -1 -1 -1 -1 -1 -1 AC127502.1 53_non_coding 33,.,. 0.454545,.,. AC127502.1/non_coding/ dominant HG002 HG002 chr15:30607904:G:A 1,.,. 6.66436e-06 0 1 -1 -1 -1 GOLGA8H 50_intron 26,.,. 0.461538,.,. GOLGA8H/intron/ 0.0000 1.3413 1.7310 8 dominant HG002 HG002 chr15:30932591:AAACAACATAAG:A 1,.,. -1 -1 -1 -1 -1 -1 FAN1 50_intron 33,.,. 0.545455,.,. FAN1/non_coding/;FAN1/intron/ 0.0000 0.8486 1.0150 5 Karyomegalic interstitial nephritis 0.000 dominant HG002 HG002 chr15:31117673:C:T 1,.,. -1 -1 -1 -1 -1 -1 TRPM1 50_intron 37,.,. 0.540541,.,. TRPM1/intron/ 0.0000 0.7175 0.8390 3 Congenital stationary night blindness 1C 0.000 dominant HG002 HG002 chr15:31462585:T:TTTC 1,.,. 2.35455e-05 0 2 -1 -1 -1 25,.,. 0.64,.,. dominant HG002 HG002 chr15:31462587:C:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.64,.,. dominant HG002 HG002 chr15:31931199:T:C 1,.,. 6.56918e-06 0 1 -1 -1 -1 CHRNA7 50_intron 46,.,. 0.543478,.,. CHRNA7/intron/ 0.0017 0.6564 1.0640 5 Chromosome 15q13.3 microdeletion syndrome 0.000 dominant HG002 HG002 chr15:32223063:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr15:32777473:T:G 1,.,. -1 -1 -1 -1 -1 -1 FMN1 50_intron 41,.,. 0.365854,.,. FMN1/intron/;FMN1/non_coding/ 0.0000 0.8293 1.0020 5 dominant HG002 HG002 chr15:32777475:A:T 1,.,. -1 -1 -1 -1 -1 -1 FMN1 50_intron 41,.,. 0.390244,.,. FMN1/intron/;FMN1/non_coding/ 0.0000 0.8293 1.0020 5 dominant HG002 HG002 chr15:32777479:AT:A 1,.,. 1.7153e-05 0 2 -1 -1 -1 FMN1 50_intron 41,.,. 0.390244,.,. FMN1/intron/;FMN1/non_coding/ 0.0000 0.8293 1.0020 5 dominant HG002 HG002 chr15:33023074:A:AAAAAAG 1,.,. -1 -1 -1 -1 -1 -1 FMN1 50_intron 31,.,. 0.322581,.,. FMN1/intron/ 0.0000 0.8293 1.0020 5 dominant HG002 HG002 chr15:33125107:CTTAGAACA:C 1,.,. -1 -1 -1 -1 -1 -1 FMN1 50_intron 33,.,. 0.515152,.,. FMN1/intron/;FMN1/non_coding/ 0.0000 0.8293 1.0020 5 dominant HG002 HG002 chr15:33125118:A:T 1,.,. -1 -1 -1 -1 -1 -1 FMN1 50_intron 32,.,. 0.53125,.,. FMN1/intron/;FMN1/non_coding/ 0.0000 0.8293 1.0020 5 dominant HG002 HG002 chr15:33216316:C:CTATCTA 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr15:33227254:T:TTC 1,.,. 8.65501e-06 0 1 -1 -1 -1 26,.,. 0.461538,.,. recessive HG002 HG002 chr15:33453068:T:G 2,.,. -1 -1 -1 -1 -1 -1 RYR3 50_intron 52,.,. 1,.,. RYR3/intron/ 1.0000 0.3784 0.4300 1 Congenital myopathy 20 recessive HG002 HG002 chr15:33453070:T:A 2,.,. -1 -1 -1 -1 -1 -1 RYR3 50_intron 52,.,. 1,.,. RYR3/intron/ 1.0000 0.3784 0.4300 1 Congenital myopathy 20 dominant HG002 HG002 chr15:33537771:C:G 1,.,. -1 -1 -1 -1 -1 -1 RYR3 50_intron 35,.,. 0.514286,.,. RYR3/intron/;RYR3/non_coding/ 1.0000 0.3784 0.4300 1 Congenital myopathy 20 dominant HG002 HG002 chr15:33794293:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 RYR3 50_intron 46,.,. 0.391304,.,. RYR3/intron/ 1.0000 0.3784 0.4300 1 Congenital myopathy 20 recessive HG002 HG002 chr15:33857251:CACCAGCA:C 2,.,. -1 -1 -1 -1 -1 -1 RYR3 50_intron 32,.,. 1,.,. RYR3/intron/;RYR3/non_coding/ 1.0000 0.3784 0.4300 1 Congenital myopathy 20 recessive HG002 HG002 chr15:33908246:CCAGGATTCTTTTACTTCGAAAGCTGAATTGCTAATTCCAAAGAACATTGTGTTGACAGTGCCTGCAATTAAGAAGCCATCACCTTTGTGTTATGACAGTTTTCTTCCTTACTACAAGCATTATTGTTACCTGGAATAAAAGATTCCTGCTTTTTTGTTCACATCTTGAGCTGGTTATGAGTATTAACCCATGTCACTGTTGGTACATTTATAGAGTATAAAATCACTCTATAATTGCAAATGGGCAAATAGGTTA:C 2,.,. -1 -1 -1 -1 -1 -1 AVEN 50_intron 37,.,. 1,.,. AVEN/non_coding/;AVEN/intron/ 0.0000 0.8548 1.1720 6 recessive HG002 HG002 chr15:33908503:T:C 2,.,. -1 -1 -1 -1 -1 -1 AVEN 50_intron 37,.,. 1,.,. AVEN/non_coding/;AVEN/intron/ 0.0000 0.8548 1.1720 6 recessive HG002 HG002 chr15:33908510:A:C 2,.,. -1 -1 -1 -1 -1 -1 AVEN 50_intron 37,.,. 1,.,. AVEN/non_coding/;AVEN/intron/ 0.0000 0.8548 1.1720 6 recessive HG002 HG002 chr15:33986111:G:T 2,.,. -1 -1 -1 -1 -1 -1 AVEN 50_intron 31,.,. 1,.,. AVEN/non_coding/;AVEN/intron/ 0.0000 0.8548 1.1720 6 recessive HG002 HG002 chr15:34177046:C:G 2,.,. -1 -1 -1 -1 -1 -1 KATNBL1 50_intron 37,.,. 1,.,. KATNBL1/intron/;KATNBL1/non_coding/ 0.2239 0.4302 0.7760 3 recessive HG002 HG002 chr15:34177049:T:A 2,.,. -1 -1 -1 -1 -1 -1 KATNBL1 50_intron 37,.,. 1,.,. KATNBL1/intron/;KATNBL1/non_coding/ 0.2239 0.4302 0.7760 3 recessive HG002 HG002 chr15:34364427:T:C 2,.,. 5.45633e-05 0 3 -1 -1 -1 LPCAT4 50_intron 24,.,. 1,.,. LPCAT4/intron/;LPCAT4/non_coding/ 0.0107 0.4541 0.6160 2 dominant HG002 HG002 chr15:34524791:G:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.678571,.,. dominant HG002 HG002 chr15:34524792:A:G 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.666667,.,. dominant HG002 HG002 chr15:34524795:G:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.678571,.,. recessive HG002 HG002 chr15:34534353:A:AAAAAAG 2,.,. -1 -1 -1 -1 -1 -1 GOLGA8B 50_intron 24,.,. 1,.,. GOLGA8B/intron/;GOLGA8B/non_coding/ 0.4611 0.2658 1.2340 6 dominant HG002 HG002 chr15:35832264:A:G 1,.,. 6.85316e-06 0 1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr15:35873589:G:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr15:35900988:G:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr15:35901291:G:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.553191,.,. dominant HG002 HG002 chr15:35983346:C:T 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.45283,.,. dominant HG002 HG002 chr15:36212920:C:T 1,.,. 1.31453e-05 0 2 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr15:36387943:G:A 1,.,. 6.57514e-06 0 1 -1 -1 -1 47,.,. 0.404255,.,. dominant HG002 HG002 chr15:36521495:GAGAA:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr15:37186965:C:T 1,.,. 6.57661e-06 0 1 -1 -1 -1 40,.,. 0.475,.,. recessive HG002 HG002 chr15:37599636:C:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. dominant HG002 HG002 chr15:37846279:AAAACTGAGGTTTCCT:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.645833,.,. dominant HG002 HG002 chr15:37846296:G:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.62,.,. dominant HG002 HG002 chr15:37865662:T:C 1,.,. 7.11212e-05 0 4 -1 -1 -1 36,.,. 0.277778,.,. recessive HG002 HG002 chr15:38044773:TAAAAAAAA:T 2,.,. 0.00535763 2 434 0.00665732 0 19 30,.,. 1,.,. recessive HG002 HG002 chr15:38349573:A:T 2,.,. 6.58068e-06 0 1 -1 -1 -1 SPRED1 50_intron 48,.,. 1,.,. SPRED1/intron/ 0.9838 0.3268 0.4960 1 Legius syndrome 0.000 recessive HG002 HG002 chr15:38349575:A:AAATTAGT 2,.,. -1 -1 -1 -1 -1 -1 SPRED1 50_intron 50,.,. 1,.,. SPRED1/intron/ 0.9838 0.3268 0.4960 1 Legius syndrome 0.000 recessive HG002 HG002 chr15:38349576:G:A 2,.,. -1 -1 -1 -1 -1 -1 SPRED1 50_intron 49,.,. 1,.,. SPRED1/intron/ 0.9838 0.3268 0.4960 1 Legius syndrome 0.000 dominant HG002 HG002 chr15:38371982:T:TAGCTGAC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr15:38371983:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr15:38373449:T:TTGGTTGGCTGGTTGGC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr15:38490265:T:C 1,.,. 2.63487e-05 0 4 -1 -1 -1 RASGRP1 36_3_prime_utr 37,.,. 0.486486,.,. RASGRP1/3_prime_utr/ENST00000310803;RASGRP1/3_prime_utr/ENST00000539159;RASGRP1/3_prime_utr/ENST00000558432 0.4755 0.4007 0.5380 1 Immunodeficiency 64 0.000 dominant HG002 HG002 chr15:38795269:T:TTTCC 1,.,. -1 -1 -1 0.00140154 0 4 25,.,. 0.68,.,. dominant HG002 HG002 chr15:39342020:T:TGAGTGA 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr15:39362764:T:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. recessive HG002 HG002 chr15:39409280:A:G 2,.,. 0.00397912 0 276 0.00210231 0 6 29,.,. 1,.,. dominant HG002 HG002 chr15:39567285:A:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr15:39820303:CAT:C 1,.,. -1 -1 -1 -1 -1 -1 GPR176 50_intron 35,.,. 0.4,.,. GPR176/intron/;GPR176/non_coding/ 0.0000 0.7332 1.0560 5 dominant HG002 HG002 chr15:39820306:C:T 1,.,. -1 -1 -1 -1 -1 -1 GPR176 50_intron 35,.,. 0.4,.,. GPR176/intron/;GPR176/non_coding/ 0.0000 0.7332 1.0560 5 dominant HG002 HG002 chr15:40351319:G:A 1,.,. 1.31403e-05 0 2 -1 -1 -1 PHGR1 50_intron 23,.,. 0.434783,.,. PHGR1/intron/;PHGR1/non_coding/ 0.1286 0.5743 1.4460 8 dominant HG002 HG002 chr15:40465489:A:G 1,.,. -1 -1 -1 -1 -1 -1 BAHD1 50_intron 27,.,. 0.592593,.,. BAHD1/intron/;BAHD1/non_coding/ 0.9992 0.3078 0.4470 1 dominant HG002 HG002 chr15:40486929:T:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.5,.,. dominant HG002 HG002 chr15:40520197:TTGTGTGTGCGTGTG:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.481481,.,. dominant HG002 HG002 chr15:40592962:T:TGAGCTG 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.666667,.,. dominant HG002 HG002 chr15:40592963:T:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.69697,.,. dominant HG002 HG002 chr15:40724680:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 RAD51 50_intron 26,.,. 0.230769,.,. RAD51/intron/ 0.9953 0.2883 0.4670 1 Mirror movements 2;Familial cancer of breast;Mirror movements 1;Fanconi anemia complementation group R 0.000 recessive HG002 HG002 chr15:40965372:G:T 2,.,. 0.000670585 0 102 0.00105116 0 3 37,.,. 1,.,. dominant HG002 HG002 chr15:41225901:CAAAACAAAACA:C 1,.,. -1 -1 -1 -1 -1 -1 EXD1 50_intron 34,.,. 0.294118,.,. EXD1/intron/;EXD1/non_coding/ 0.0000 1.2473 1.5360 8 dominant HG002 HG002 chr15:41949051:T:TATATATATATATATATATATATATACAC 1,.,. -1 -1 -1 -1 -1 -1 EHD4 50_intron 32,.,. 0.375,.,. EHD4/intron/;EHD4/non_coding/ 0.0000 0.7735 1.0180 5 dominant HG002 HG002 chr15:41958107:A:AGGATTGTT 1,.,. -1 -1 -1 -1 -1 -1 EHD4 50_intron 40,.,. 0.525,.,. EHD4/intron/;EHD4/non_coding/ 0.0000 0.7735 1.0180 5 dominant HG002 HG002 chr15:41958108:A:G 1,.,. -1 -1 -1 -1 -1 -1 EHD4 50_intron 40,.,. 0.525,.,. EHD4/intron/;EHD4/non_coding/ 0.0000 0.7735 1.0180 5 dominant HG002 HG002 chr15:41964768:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 EHD4 50_intron 35,.,. 0.4,.,. EHD4/intron/;EHD4/non_coding/ 0.0000 0.7735 1.0180 5 dominant HG002 HG002 chr15:41973311:T:TTTGTTGTTGTTG 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr15:42004414:A:AAGGC 1,.,. -1 -1 -1 -1 -1 -1 PLA2G4E 50_intron 27,.,. 0.481481,.,. PLA2G4E/intron/ 0.0000 0.8388 1.0060 5 dominant HG002 HG002 chr15:42147333:G:T 1,.,. -1 -1 -1 -1 -1 -1 PLA2G4F 14_missense 27,.,. 0.407407,.,. PLA2G4F/missense/ENST00000397272;PLA2G4F/3_prime_utr&NMD_transcript/ENST00000290497;PLA2G4F/3_prime_utr&NMD_transcript/ENST00000569985 0.0000 1.0497 1.2360 6 dominant HG002 HG002 chr15:42440996:AAAATATAT:A 1,.,. 8.09946e-05 0 4 -1 -1 -1 ZNF106 50_intron 37,.,. 0.243243,.,. ZNF106/intron/ 1.0000 0.3269 0.4030 1 dominant HG002 HG002 chr15:42816081:A:AATATATAT 1,.,. -1 -1 -1 -1 -1 -1 TTBK2 50_intron 29,.,. 0.517241,.,. TTBK2/intron/ 1.0000 0.2364 0.3260 0 Spinocerebellar ataxia type 11 0.000 dominant HG002 HG002 chr15:44568023:GA:G 1,.,. 1.31441e-05 0 2 -1 -1 -1 SPG11 50_intron 32,.,. 0.59375,.,. SPG11/intron/;SPG11/non_coding/ 0.0000 0.7583 0.8520 3 Hereditary spastic paraplegia 11;Charcot-Marie-Tooth disease axonal type 2X;Amyotrophic lateral sclerosis type 5 0.000 recessive HG002 HG002 chr15:45142785:AAGGG:A 2,.,. -1 -1 -1 -1 -1 -1 DUOX1 50_intron 17,.,. 1,.,. DUOX1/intron/ 0.0000 0.7705 0.8900 4 dominant HG002 HG002 chr15:45243151:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.606061,.,. dominant HG002 HG002 chr15:45654124:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 AC090527.3 50_intron 30,.,. 0.333333,.,. AC090527.3/intron/ dominant HG002 HG002 chr15:45654130:A:G 1,.,. 1.32484e-05 0 2 0.00105116 0 3 AC090527.3 50_intron 30,.,. 0.4,.,. AC090527.3/intron/ dominant HG002 HG002 chr15:45731933:C:T 1,.,. 1.97176e-05 0 3 -1 -1 -1 33,.,. 0.575758,.,. dominant HG002 HG002 chr15:45914923:T:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.607843,.,. dominant HG002 HG002 chr15:46057206:G:A 1,.,. 1.31614e-05 0 2 -1 -1 -1 45,.,. 0.422222,.,. recessive HG002 HG002 chr15:46423170:T:A 2,.,. 0.00374131 0 14 0.00175193 0 5 31,.,. 1,.,. recessive HG002 HG002 chr15:46572704:AAACTAGATAC:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr15:46572715:A:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. dominant HG002 HG002 chr15:46710702:G:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. recessive HG002 HG002 chr15:46950904:A:C 2,.,. 3.94986e-05 0 6 -1 -1 -1 54,.,. 0.981481,.,. dominant HG002 HG002 chr15:46980999:A:C 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.508772,.,. recessive HG002 HG002 chr15:47133043:G:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.982143,.,. recessive HG002 HG002 chr15:47133045:C:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.982456,.,. recessive HG002 HG002 chr15:47133046:G:C 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.982456,.,. recessive HG002 HG002 chr15:47277608:T:TTA 2,.,. -1 -1 -1 -1 -1 -1 SEMA6D 50_intron 52,.,. 1,.,. SEMA6D/intron/ 1.0000 0.2870 0.3960 0 recessive HG002 HG002 chr15:47277609:A:T 2,.,. -1 -1 -1 0.00140154 0 4 SEMA6D 50_intron 53,.,. 1,.,. SEMA6D/intron/ 1.0000 0.2870 0.3960 0 recessive HG002 HG002 chr15:47367725:C:A 2,.,. 0.00273276 0 58 0.00350385 1 10 SEMA6D 50_intron 48,.,. 1,.,. SEMA6D/intron/ 1.0000 0.2870 0.3960 0 dominant HG002 HG002 chr15:47422167:C:CGCCT 1,.,. 6.20463e-05 0 4 -1 -1 -1 SEMA6D 50_intron 38,.,. 0.368421,.,. SEMA6D/intron/ 1.0000 0.2870 0.3960 0 dominant HG002 HG002 chr15:48175366:G:A 1,.,. -1 -1 -1 -1 -1 -1 MYEF2 50_intron 46,.,. 0.5,.,. MYEF2/intron/;MYEF2/non_coding/ 0.0005 0.4946 0.6640 2 dominant HG002 HG002 chr15:48362732:G:A 1,.,. 6.57263e-06 0 1 -1 -1 -1 46,.,. 0.434783,.,. dominant HG002 HG002 chr15:49082494:A:AAG 1,.,. 1.19218e-05 0 1 -1 -1 -1 30,.,. 0.333333,.,. dominant HG002 HG002 chr15:49082495:G:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr15:50087362:T:A 1,.,. -1 -1 -1 -1 -1 -1 ATP8B4 50_intron 37,.,. 0.432432,.,. ATP8B4/intron/;ATP8B4/non_coding/ 0.0000 0.8527 1.0130 5 dominant HG002 HG002 chr15:51058457:AAT:A 1,.,. 2.93919e-05 0 4 -1 -1 -1 TNFAIP8L3 50_intron 31,.,. 0.483871,.,. TNFAIP8L3/intron/ 0.0163 0.6590 1.2370 6 dominant HG002 HG002 chr15:51058461:T:A 1,.,. 1.32038e-05 0 2 -1 -1 -1 TNFAIP8L3 50_intron 31,.,. 0.451613,.,. TNFAIP8L3/intron/ 0.0163 0.6590 1.2370 6 recessive HG002 HG002 chr15:52232232:A:AGGAAG 2,.,. -1 -1 -1 -1 -1 -1 MYO5C 50_intron 33,.,. 1,.,. MYO5C/intron/ 0.0000 0.7778 0.8930 4 dominant HG002 HG002 chr15:52246881:C:T 1,.,. -1 -1 -1 -1 -1 -1 MYO5C 50_intron 26,.,. 0.653846,.,. MYO5C/intron/ 0.0000 0.7778 0.8930 4 dominant HG002 HG002 chr15:52493050:GCCT:G 1,.,. -1 -1 -1 -1 -1 -1 MYO5A 50_intron 31,.,. 0.419355,.,. MYO5A/intron/ 0.9951 0.3838 0.4610 1 Griscelli syndrome type 1 0.000 recessive HG002 HG002 chr15:52680882:G:T 2,.,. -1 -1 -1 -1 -1 -1 FAM214A 50_intron 43,.,. 1,.,. FAM214A/intron/ 0.0000 0.5011 0.6340 2 dominant HG002 HG002 chr15:53759713:C:CCCGCCT 1,.,. -1 -1 -1 -1 -1 -1 WDR72 50_intron 30,.,. 0.533333,.,. WDR72/intron/ 0.0000 0.9290 1.0890 5 Amelogenesis imperfecta hypomaturation type 2A3 0.000 dominant HG002 HG002 chr15:53771161:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr15:53910967:G:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr15:53932338:C:A 1,.,. 9.88338e-05 0 4 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr15:54105654:C:CTG 1,.,. -1 -1 -1 -1 -1 -1 UNC13C 50_intron 40,.,. 0.45,.,. UNC13C/intron/ 0.0000 0.7436 0.8570 3 dominant HG002 HG002 chr15:54105655:G:T 1,.,. -1 -1 -1 -1 -1 -1 UNC13C 50_intron 40,.,. 0.45,.,. UNC13C/intron/ 0.0000 0.7436 0.8570 3 dominant HG002 HG002 chr15:54216497:T:C 1,.,. -1 -1 -1 -1 -1 -1 UNC13C 50_intron 40,.,. 0.55,.,. UNC13C/intron/ 0.0000 0.7436 0.8570 3 dominant HG002 HG002 chr15:54475299:A:T 1,.,. -1 -1 -1 -1 -1 -1 UNC13C 50_intron 37,.,. 0.378378,.,. UNC13C/intron/ 0.0000 0.7436 0.8570 3 dominant HG002 HG002 chr15:54476078:ATG:A 1,.,. -1 -1 -1 -1 -1 -1 UNC13C 50_intron 38,.,. 0.421053,.,. UNC13C/intron/ 0.0000 0.7436 0.8570 3 dominant HG002 HG002 chr15:54476084:C:T 1,.,. -1 -1 -1 -1 -1 -1 UNC13C 50_intron 38,.,. 0.421053,.,. UNC13C/intron/ 0.0000 0.7436 0.8570 3 dominant HG002 HG002 chr15:55102704:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr15:55543074:G:GGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 PYGO1 36_3_prime_utr 37,.,. 0.405405,.,. PYGO1/3_prime_utr/ENST00000302000 0.9992 0.1794 0.3770 0 dominant HG002 HG002 chr15:55758484:A:AAAT 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.307692,.,. dominant HG002 HG002 chr15:55758487:A:G 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.269231,.,. dominant HG002 HG002 chr15:55777093:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.217391,.,. dominant HG002 HG002 chr15:55786040:A:AAGGG 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr15:55961060:A:C 1,.,. -1 -1 -1 -1 -1 -1 NEDD4 50_intron 47,.,. 0.489362,.,. NEDD4/intron/;NEDD4/non_coding/ 0.0000 0.6982 0.8580 3 dominant HG002 HG002 chr15:56339401:A:C 1,.,. -1 -1 -1 -1 -1 -1 TEX9 50_intron 51,.,. 0.333333,.,. TEX9/intron/ 0.0000 1.0796 1.3920 7 recessive HG002 HG002 chr15:56549613:CATAT:C 2,.,. 0.000925712 0 8 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr15:56549635:T:A 2,.,. 0.00455063 0 8 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr15:56896924:C:A 1,.,. -1 -1 -1 -1 -1 -1 AC090517.4 50_intron 29,.,. 0.482759,.,. AC090517.4/intron/ dominant HG002 HG002 chr15:57591946:G:C 1,.,. -1 -1 -1 -1 -1 -1 MYZAP;GCOM1 35_5_prime_utr 36,.,. 0.555556,.,. MYZAP/5_prime_utr/ENST00000267853;GCOM1/5_prime_utr/ENST00000380569 0.0000;;0.0000 0.9029;;0.9482 1.1140;;1.1290 6;;6 Cardiomyopathy, dilated, 2K dominant HG002 HG002 chr15:57823898:ATGAGGGGTGGGT:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr15:57823911:A:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr15:57877209:AAGTGGAAC:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.612245,.,. dominant HG002 HG002 chr15:57988389:AGACAAAGAGGGAAAATATG:A 1,.,. -1 -1 -1 -1 -1 -1 ALDH1A2 50_intron 42,.,. 0.642857,.,. ALDH1A2/intron/ 0.1650 0.4190 0.5810 1 Diaphragmatic hernia 4, with cardiovascular defects 0.000 dominant HG002 HG002 chr15:58307620:G:A 1,.,. -1 -1 -1 -1 -1 -1 ALDH1A2 50_intron 40,.,. 0.55,.,. ALDH1A2/intron/;ALDH1A2/non_coding/ 0.1650 0.4190 0.5810 1 Diaphragmatic hernia 4, with cardiovascular defects 0.000 dominant HG002 HG002 chr15:58839316:C:CTGTTTGTT 1,.,. -1 -1 -1 -1 -1 -1 MINDY2 50_intron 35,.,. 0.314286,.,. MINDY2/intron/ 0.0000 0.7815 1.0170 5 recessive HG002 HG002 chr15:58922554:A:T 2,.,. -1 -1 -1 -1 -1 -1 RNF111;SLTM 50_intron 36,.,. 1,.,. RNF111/intron/;SLTM/intron/;SLTM/non_coding/ 1.0000;;0.9998 0.2127;;0.3371 0.3280;;0.4430 0;;1 recessive HG002 HG002 chr15:58948286:A:AAT 2,.,. -1 -1 -1 -1 -1 -1 RNF111 50_intron 54,.,. 1,.,. RNF111/intron/ 1.0000 0.2127 0.3280 0 dominant HG002 HG002 chr15:59049748:T:TC 1,.,. -1 -1 -1 0.000700771 0 2 RNF111;AC092757.1 50_intron 38,.,. 0.394737,.,. RNF111/intron/;AC092757.1/non_coding/ 1.0000 0.2127 0.3280 0 recessive HG002 HG002 chr15:59366300:C:T 2,.,. 0.0018478 0 27 -1 -1 -1 MYO1E 50_intron 25,.,. 1,.,. MYO1E/intron/;MYO1E/non_coding/ 0.0002 0.4527 0.5570 1 Focal segmental glomerulosclerosis 6 0.000 dominant HG002 HG002 chr15:59421707:CTATCTATCTG:C 1,.,. -1 -1 -1 -1 -1 -1 FAM81A 50_intron 30,.,. 0.366667,.,. FAM81A/intron/ 0.1856 0.4218 0.6250 2 dominant HG002 HG002 chr15:59421719:C:G 1,.,. -1 -1 -1 -1 -1 -1 FAM81A 50_intron 29,.,. 0.37931,.,. FAM81A/intron/ 0.1856 0.4218 0.6250 2 dominant HG002 HG002 chr15:59624937:A:AACAC 1,.,. -1 -1 -1 -1 -1 -1 GCNT3 53_non_coding 34,.,. 0.382353,.,. GCNT3/non_coding/ 0.0641 0.7847 1.7430 8 dominant HG002 HG002 chr15:60061426:C:T 1,.,. -1 -1 -1 -1 -1 -1 FOXB1 53_non_coding 44,.,. 0.5,.,. FOXB1/non_coding/ 0.6246 0.3492 0.6890 2 dominant HG002 HG002 chr15:60453252:T:C 1,.,. 6.57393e-06 0 1 -1 -1 -1 ICE2 36_3_prime_utr 43,.,. 0.488372,.,. ICE2/3_prime_utr/ENST00000561114 0.0000 0.7905 0.9960 5 dominant HG002 HG002 chr15:60459798:A:G 1,.,. -1 -1 -1 -1 -1 -1 ICE2 50_intron 48,.,. 0.5625,.,. ICE2/intron/;ICE2/non_coding/ 0.0000 0.7905 0.9960 5 dominant HG002 HG002 chr15:60813433:A:AATCTGTGT 1,.,. -1 -1 -1 -1 -1 -1 RORA 50_intron 38,.,. 0.368421,.,. RORA/intron/;RORA/non_coding/ 1.0000 0.0903 0.2070 0 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0.000 recessive HG002 HG002 chr15:60823128:C:T 2,.,. -1 -1 -1 -1 -1 -1 RORA 50_intron 33,.,. 1,.,. RORA/intron/;RORA/non_coding/ 1.0000 0.0903 0.2070 0 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0.000 recessive HG002 HG002 chr15:60823130:CTTTCT:C 2,.,. -1 -1 -1 -1 -1 -1 RORA 50_intron 33,.,. 1,.,. RORA/intron/;RORA/non_coding/ 1.0000 0.0903 0.2070 0 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0.000 dominant HG002 HG002 chr15:61119080:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 RORA 50_intron 43,.,. 0.44186,.,. RORA/intron/;RORA/non_coding/ 1.0000 0.0903 0.2070 0 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0.000 dominant HG002 HG002 chr15:61119086:G:T 1,.,. 2.05679e-05 0 3 -1 -1 -1 RORA 50_intron 42,.,. 0.452381,.,. RORA/intron/;RORA/non_coding/ 1.0000 0.0903 0.2070 0 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0.000 dominant HG002 HG002 chr15:61184986:C:CAAAAAA 1,.,. -1 -1 -1 0.00140154 0 4 RORA 50_intron 24,.,. 0.333333,.,. RORA/intron/;RORA/non_coding/ 1.0000 0.0903 0.2070 0 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0.000 dominant HG002 HG002 chr15:61185391:T:C 1,.,. 6.59813e-06 0 1 -1 -1 -1 RORA 50_intron 45,.,. 0.422222,.,. RORA/intron/;RORA/non_coding/ 1.0000 0.0903 0.2070 0 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0.000 dominant HG002 HG002 chr15:61211292:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 RORA 50_intron 32,.,. 0.34375,.,. RORA/intron/;RORA/non_coding/ 1.0000 0.0903 0.2070 0 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0.000 recessive HG002 HG002 chr15:61256018:A:G 2,.,. 0.00109779 2 167 0.00140154 0 4 45,.,. 1,.,. recessive HG002 HG002 chr15:61315884:C:T 2,.,. 0.00388875 4 592 0.00420463 1 12 43,.,. 1,.,. recessive HG002 HG002 chr15:61330181:GGTTTCACC:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr15:61330190:G:A 2,.,. 0.000877193 0 1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr15:62070414:C:T 1,.,. 1.31427e-05 0 2 -1 -1 -1 C2CD4A 36_3_prime_utr 40,.,. 0.55,.,. C2CD4A/3_prime_utr/ENST00000355522 0.0119 3.6135 1.9630 9 dominant HG002 HG002 chr15:62185666:T:TGTCCAGCAG 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr15:62185668:C:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr15:62558804:G:T 1,.,. 1.31473e-05 0 2 -1 -1 -1 TLN2 53_non_coding 45,.,. 0.555556,.,. TLN2/non_coding/ 0.9945 0.3898 0.4560 1 recessive HG002 HG002 chr15:62662880:GTGGCGTGATCTC:G 2,.,. -1 -1 -1 -1 -1 -1 TLN2 50_intron 40,.,. 1,.,. TLN2/intron/ 0.9945 0.3898 0.4560 1 recessive HG002 HG002 chr15:62662893:G:A 2,.,. -1 -1 -1 -1 -1 -1 TLN2 50_intron 40,.,. 1,.,. TLN2/intron/ 0.9945 0.3898 0.4560 1 dominant HG002 HG002 chr15:62759105:T:C 1,.,. 1.97031e-05 0 3 -1 -1 -1 TLN2 50_intron 41,.,. 0.439024,.,. TLN2/intron/;TLN2/non_coding/ 0.9945 0.3898 0.4560 1 recessive HG002 HG002 chr15:63321075:G:A 2,.,. 0.000342349 1 34 0.0213735 2 61 40,.,. 1,.,. dominant HG002 HG002 chr15:63342677:T:A 1,.,. -1 -1 -1 -1 -1 -1 CA12 50_intron 45,.,. 0.533333,.,. CA12/intron/ 0.0000 0.7175 0.9680 4 Isolated hyperchlorhidrosis 0.000 recessive HG002 HG002 chr15:63343299:T:TTTTC 2,.,. -1 -1 -1 0.0262789 2 75 CA12 50_intron 30,.,. 1,.,. CA12/intron/ 0.0000 0.7175 0.9680 4 Isolated hyperchlorhidrosis 0.000 dominant HG002 HG002 chr15:63417141:GAAGGCAGGGA:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr15:63417152:G:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr15:64075063:T:C 1,.,. -1 -1 -1 -1 -1 -1 CIAO2A 36_3_prime_utr 35,.,. 0.428571,.,. CIAO2A/3_prime_utr/ENST00000557835 0.0232 0.5839 1.0540 5 dominant HG002 HG002 chr15:64138294:C:T 1,.,. -1 -1 -1 -1 -1 -1 SNX1 36_3_prime_utr 38,.,. 0.5,.,. SNX1/3_prime_utr&NMD_transcript/ENST00000380285;SNX1/3_prime_utr/ENST00000559844;SNX1/3_prime_utr/ENST00000261889 0.0107 0.4707 0.6670 2 dominant HG002 HG002 chr15:64287565:C:T 1,.,. -1 -1 -1 -1 -1 -1 CSNK1G1;AC087632.2 50_intron 44,.,. 0.363636,.,. CSNK1G1/intron/;AC087632.2/non_coding/ 0.2501 0.4166 0.6510 2 recessive HG002 HG002 chr15:64346057:G:GGAATTACA 2,.,. -1 -1 -1 -1 -1 -1 CSNK1G1;AC087632.2 50_intron 31,.,. 1,.,. CSNK1G1/intron/;AC087632.2/non_coding/;AC087632.2/intron/ 0.2501 0.4166 0.6510 2 recessive HG002 HG002 chr15:64346058:A:G 2,.,. -1 -1 -1 -1 -1 -1 CSNK1G1;AC087632.2 50_intron 32,.,. 1,.,. CSNK1G1/intron/;AC087632.2/non_coding/;AC087632.2/intron/ 0.2501 0.4166 0.6510 2 recessive HG002 HG002 chr15:64364121:A:C 2,.,. -1 -1 -1 -1 -1 -1 AC087632.2 50_intron 29,.,. 1,.,. AC087632.2/non_coding/;AC087632.2/intron/ dominant HG002 HG002 chr15:64951848:TTCTTTCTTCTTCC:T 1,.,. -1 -1 -1 -1 -1 -1 ANKDD1A 50_intron 25,.,. 0.4,.,. ANKDD1A/intron/ 0.0000 0.8981 1.1370 6 dominant HG002 HG002 chr15:64951864:T:C 1,.,. -1 -1 -1 -1 -1 -1 ANKDD1A 50_intron 24,.,. 0.416667,.,. ANKDD1A/intron/ 0.0000 0.8981 1.1370 6 recessive HG002 HG002 chr15:64953876:A:C 2,.,. -1 -1 -1 -1 -1 -1 ANKDD1A 50_intron 22,.,. 1,.,. ANKDD1A/intron/ 0.0000 0.8981 1.1370 6 recessive HG002 HG002 chr15:64954381:T:TCTTTTC 2,.,. -1 -1 -1 -1 -1 -1 ANKDD1A 50_intron 26,.,. 1,.,. ANKDD1A/intron/ 0.0000 0.8981 1.1370 6 dominant HG002 HG002 chr15:65361629:T:C 1,.,. -1 -1 -1 -1 -1 -1 IGDCC3 50_intron 31,.,. 0.516129,.,. IGDCC3/intron/ 0.0000 0.6745 0.8560 3 dominant HG002 HG002 chr15:66028843:G:A 1,.,. -1 -1 -1 -1 -1 -1 MEGF11 50_intron 40,.,. 0.35,.,. MEGF11/intron/ 0.0000 1.0006 1.1650 6 dominant HG002 HG002 chr15:66128090:A:T 1,.,. 1.97109e-05 0 3 -1 -1 -1 MEGF11 50_intron 32,.,. 0.5,.,. MEGF11/intron/ 0.0000 1.0006 1.1650 6 dominant HG002 HG002 chr15:66398779:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 MAP2K1 50_intron 43,.,. 0.465116,.,. MAP2K1/non_coding/;MAP2K1/intron/ 0.9674 0.3239 0.5150 1 Melorheostosis;Noonan syndrome 1;Cardiofaciocutaneous syndrome 3 0.000 dominant HG002 HG002 chr15:66420962:TATACAC:T 1,.,. -1 -1 -1 0.000700771 0 2 MAP2K1 50_intron 30,.,. 0.4,.,. MAP2K1/non_coding/;MAP2K1/intron/ 0.9674 0.3239 0.5150 1 Melorheostosis;Noonan syndrome 1;Cardiofaciocutaneous syndrome 3 0.000 dominant HG002 HG002 chr15:66673714:CCCCCCAACCCAG:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. recessive HG002 HG002 chr15:66791731:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr15:66860753:G:A 1,.,. 1.97197e-05 0 3 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr15:67905053:T:TCCCCCTCTTTCTCTCTCCCCCTCTTTCTCTCTCTCCCTCTTTCTCTCTCC 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.307692,.,. dominant HG002 HG002 chr15:68397812:A:AATATT 1,.,. -1 -1 -1 -1 -1 -1 ITGA11 50_intron 25,.,. 0.36,.,. ITGA11/intron/ 0.0000 0.7071 0.8480 3 dominant HG002 HG002 chr15:68397813:T:A 1,.,. -1 -1 -1 -1 -1 -1 ITGA11 50_intron 25,.,. 0.36,.,. ITGA11/intron/ 0.0000 0.7071 0.8480 3 recessive HG002 HG002 chr15:68421218:A:G 2,.,. -1 -1 -1 -1 -1 -1 ITGA11 50_intron 27,.,. 1,.,. ITGA11/intron/ 0.0000 0.7071 0.8480 3 recessive HG002 HG002 chr15:68421219:G:A 2,.,. -1 -1 -1 -1 -1 -1 ITGA11 50_intron 27,.,. 1,.,. ITGA11/intron/ 0.0000 0.7071 0.8480 3 dominant HG002 HG002 chr15:68549054:TCTTC:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.392857,.,. dominant HG002 HG002 chr15:68549062:C:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.392857,.,. dominant HG002 HG002 chr15:68704045:C:A 1,.,. -1 -1 -1 -1 -1 -1 CORO2B 50_intron 23,.,. 0.304348,.,. CORO2B/intron/ 0.0154 0.4564 0.6330 2 dominant HG002 HG002 chr15:68754474:T:G 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.631579,.,. dominant HG002 HG002 chr15:68871385:A:G 1,.,. -1 -1 -1 -1 -1 -1 SPESP1 53_non_coding 46,.,. 0.391304,.,. SPESP1/non_coding/ 0.0115 1.3221 1.9130 9 recessive HG002 HG002 chr15:69560311:T:A 2,.,. 0.00314949 1 389 0.00315347 0 9 30,.,. 1,.,. recessive HG002 HG002 chr15:69569697:C:CTTA 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr15:69569699:A:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr15:70257861:C:CATGGTGAGGA 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr15:70257862:T:G 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr15:70376015:C:T 1,.,. 1.31411e-05 0 2 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr15:70870950:T:TTTTGTTTTTG 1,.,. -1 -1 -1 -1 -1 -1 LRRC49 50_intron 33,.,. 0.454545,.,. LRRC49/intron/;LRRC49/non_coding/ 0.0006 0.5726 0.8400 3 dominant HG002 HG002 chr15:70870956:T:G 1,.,. 6.66152e-06 0 1 -1 -1 -1 LRRC49 50_intron 34,.,. 0.441176,.,. LRRC49/intron/;LRRC49/non_coding/ 0.0006 0.5726 0.8400 3 dominant HG002 HG002 chr15:71241373:C:A 1,.,. 2.62854e-05 0 4 -1 -1 -1 THSD4 50_intron 37,.,. 0.486486,.,. THSD4/intron/ 0.0000 0.5940 0.7270 2 Aortic aneurysm, familial thoracic 12 0.000 recessive HG002 HG002 chr15:71385583:CTAAAGCGAA:C 2,.,. -1 -1 -1 -1 -1 -1 THSD4 50_intron 45,.,. 1,.,. THSD4/intron/ 0.0000 0.5940 0.7270 2 Aortic aneurysm, familial thoracic 12 0.000 recessive HG002 HG002 chr15:71385594:A:T 2,.,. 0.011811 0 3 -1 -1 -1 THSD4 50_intron 45,.,. 1,.,. THSD4/intron/ 0.0000 0.5940 0.7270 2 Aortic aneurysm, familial thoracic 12 0.000 dominant HG002 HG002 chr15:71745973:A:G 1,.,. 1.31432e-05 0 2 -1 -1 -1 THSD4 50_intron 42,.,. 0.547619,.,. THSD4/intron/;THSD4/non_coding/ 0.0000 0.5940 0.7270 2 Aortic aneurysm, familial thoracic 12 0.000 dominant HG002 HG002 chr15:71746381:ACTTTTTCTTTTT:A 1,.,. -1 -1 -1 -1 -1 -1 THSD4 50_intron 44,.,. 0.522727,.,. THSD4/intron/;THSD4/non_coding/ 0.0000 0.5940 0.7270 2 Aortic aneurysm, familial thoracic 12 0.000 dominant HG002 HG002 chr15:71749143:G:A 1,.,. 1.97016e-05 0 3 -1 -1 -1 THSD4 50_intron 46,.,. 0.5,.,. THSD4/intron/;THSD4/non_coding/ 0.0000 0.5940 0.7270 2 Aortic aneurysm, familial thoracic 12 0.000 dominant HG002 HG002 chr15:72047445:C:T 1,.,. 2.62795e-05 0 4 -1 -1 -1 MYO9A 50_intron 36,.,. 0.611111,.,. MYO9A/intron/;MYO9A/non_coding/ 1.0000 0.3434 0.4140 1 Myasthenic syndrome, congenital, 24, presynaptic;Congenital myasthenic syndrome 0.000 recessive HG002 HG002 chr15:72095817:C:A 2,.,. -1 -1 -1 0.00315347 4 9 MYO9A 50_intron 8,.,. 1,.,. MYO9A/intron/;MYO9A/non_coding/ 1.0000 0.3434 0.4140 1 Myasthenic syndrome, congenital, 24, presynaptic;Congenital myasthenic syndrome 0.000 dominant HG002 HG002 chr15:72104956:G:C 1,.,. 2.62805e-05 0 4 -1 -1 -1 MYO9A 50_intron 35,.,. 0.457143,.,. MYO9A/intron/;MYO9A/non_coding/ 1.0000 0.3434 0.4140 1 Myasthenic syndrome, congenital, 24, presynaptic;Congenital myasthenic syndrome 0.000 dominant HG002 HG002 chr15:72170234:G:A 1,.,. 1.31404e-05 0 2 -1 -1 -1 GRAMD2A 35_5_prime_utr 29,.,. 0.551724,.,. GRAMD2A/5_prime_utr/ENST00000570275;GRAMD2A/5_prime_utr&NMD_transcript/ENST00000562288 0.0000 0.6943 0.9330 4 recessive HG002 HG002 chr15:73068334:G:GCCACAGCCTC 2,.,. -1 -1 -1 -1 -1 -1 NEO1 50_intron 39,.,. 1,.,. NEO1/intron/ 0.7336 0.3971 0.4950 1 recessive HG002 HG002 chr15:73068337:C:A 2,.,. -1 -1 -1 -1 -1 -1 NEO1 50_intron 39,.,. 1,.,. NEO1/intron/ 0.7336 0.3971 0.4950 1 dominant HG002 HG002 chr15:73167492:C:T 1,.,. 1.31475e-05 0 2 -1 -1 -1 NEO1 50_intron 40,.,. 0.45,.,. NEO1/intron/ 0.7336 0.3971 0.4950 1 dominant HG002 HG002 chr15:73194189:A:G 1,.,. 1.31461e-05 0 2 -1 -1 -1 NEO1 50_intron 46,.,. 0.5,.,. NEO1/intron/ 0.7336 0.3971 0.4950 1 dominant HG002 HG002 chr15:73197781:A:G 1,.,. 1.32106e-05 0 2 -1 -1 -1 NEO1 50_intron 43,.,. 0.511628,.,. NEO1/intron/ 0.7336 0.3971 0.4950 1 dominant HG002 HG002 chr15:73377668:G:T 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.391304,.,. recessive HG002 HG002 chr15:73931279:C:CTAT 2,.,. -1 -1 -1 -1 -1 -1 LOXL1 50_intron 34,.,. 1,.,. LOXL1/intron/ 0.0000 0.7628 1.0650 5 Pseudoexfoliation glaucoma 0.000 recessive HG002 HG002 chr15:73931280:A:C 2,.,. -1 -1 -1 -1 -1 -1 LOXL1 50_intron 34,.,. 1,.,. LOXL1/intron/ 0.0000 0.7628 1.0650 5 Pseudoexfoliation glaucoma 0.000 dominant HG002 HG002 chr15:74328441:G:T 1,.,. 1.97088e-05 0 3 -1 -1 -1 CCDC33 50_intron 24,.,. 0.583333,.,. CCDC33/intron/;CCDC33/non_coding/ 0.0000 0.9828 1.1700 6 dominant HG002 HG002 chr15:74370637:A:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.619048,.,. dominant HG002 HG002 chr15:74812627:C:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.571429,.,. dominant HG002 HG002 chr15:74933419:A:C 1,.,. 6.97379e-06 0 1 -1 -1 -1 COX5A 50_intron 23,.,. 0.26087,.,. COX5A/intron/ 0.6530 0.2606 0.8200 3 Mitochondrial complex 4 deficiency, nuclear type 20 0.000 dominant HG002 HG002 chr15:75015930:A:AG 1,.,. -1 -1 -1 -1 -1 -1 SCAMP5 50_intron 32,.,. 0.375,.,. SCAMP5/intron/;SCAMP5/non_coding/ 0.9891 0.2384 0.4710 1 dominant HG002 HG002 chr15:75017114:A:C 1,.,. 1.97621e-05 0 3 -1 -1 -1 SCAMP5 50_intron 34,.,. 0.441176,.,. SCAMP5/intron/;SCAMP5/non_coding/ 0.9891 0.2384 0.4710 1 dominant HG002 HG002 chr15:75017145:G:C 1,.,. 1.97304e-05 0 3 -1 -1 -1 SCAMP5 50_intron 34,.,. 0.441176,.,. SCAMP5/intron/;SCAMP5/non_coding/ 0.9891 0.2384 0.4710 1 recessive HG002 HG002 chr15:75481381:G:GGA 2,.,. -1 -1 -1 -1 -1 -1 PTPN9 50_intron 27,.,. 1,.,. PTPN9/intron/ 0.8883 0.3673 0.5290 1 recessive HG002 HG002 chr15:75481382:A:G 2,.,. -1 -1 -1 0.000700771 0 2 PTPN9 50_intron 27,.,. 1,.,. PTPN9/intron/ 0.8883 0.3673 0.5290 1 dominant HG002 HG002 chr15:75620634:A:G 1,.,. -1 -1 -1 -1 -1 -1 SNUPN 50_intron 28,.,. 0.392857,.,. SNUPN/intron/ 0.0236 0.5019 0.7980 3 Muscular dystrophy, limb-girdle, autosomal recessive 29 dominant HG002 HG002 chr15:75794757:C:T 1,.,. 1.31408e-05 0 2 -1 -1 -1 32,.,. 0.5,.,. recessive HG002 HG002 chr15:76089278:G:C 2,.,. -1 -1 -1 -1 -1 -1 TMEM266 50_intron 30,.,. 1,.,. TMEM266/intron/;TMEM266/non_coding/ 0.0000 0.6953 0.9220 4 dominant HG002 HG002 chr15:76113934:T:C 1,.,. 1.33618e-05 0 2 -1 -1 -1 TMEM266 50_intron 35,.,. 0.6,.,. TMEM266/intron/;TMEM266/non_coding/ 0.0000 0.6953 0.9220 4 recessive HG002 HG002 chr15:76148719:A:C 2,.,. -1 -1 -1 -1 -1 -1 TMEM266 50_intron 28,.,. 1,.,. TMEM266/intron/ 0.0000 0.6953 0.9220 4 recessive HG002 HG002 chr15:76148720:C:A 2,.,. 0.000173732 0 1 -1 -1 -1 TMEM266 50_intron 28,.,. 1,.,. TMEM266/intron/ 0.0000 0.6953 0.9220 4 recessive HG002 HG002 chr15:76148724:T:C 2,.,. -1 -1 -1 -1 -1 -1 TMEM266 50_intron 27,.,. 1,.,. TMEM266/intron/ 0.0000 0.6953 0.9220 4 recessive HG002 HG002 chr15:76621479:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 SCAPER 50_intron 30,.,. 1,.,. SCAPER/intron/;SCAPER/non_coding/ 0.0000 0.5493 0.6660 2 Intellectual developmental disorder and retinitis pigmentosa IDDRP 0.000 recessive HG002 HG002 chr15:76621483:T:C 2,.,. -1 -1 -1 -1 -1 -1 SCAPER 50_intron 30,.,. 1,.,. SCAPER/intron/;SCAPER/non_coding/ 0.0000 0.5493 0.6660 2 Intellectual developmental disorder and retinitis pigmentosa IDDRP 0.000 dominant HG002 HG002 chr15:76790613:T:G 1,.,. 1.31397e-05 0 2 -1 -1 -1 SCAPER 50_intron 43,.,. 0.488372,.,. SCAPER/intron/;SCAPER/non_coding/ 0.0000 0.5493 0.6660 2 Intellectual developmental disorder and retinitis pigmentosa IDDRP 0.000 dominant HG002 HG002 chr15:77052954:A:G 1,.,. 1.31418e-05 0 2 -1 -1 -1 TSPAN3 50_intron 39,.,. 0.410256,.,. TSPAN3/intron/;TSPAN3/non_coding/ 0.4123 0.3929 0.7090 2 dominant HG002 HG002 chr15:77075042:T:C 1,.,. 1.98022e-05 0 3 -1 -1 -1 TSPAN3 50_intron 24,.,. 0.708333,.,. TSPAN3/intron/ 0.4123 0.3929 0.7090 2 dominant HG002 HG002 chr15:77147056:G:T 1,.,. 1.31447e-05 0 2 -1 -1 -1 PEAK1 50_intron 46,.,. 0.413043,.,. PEAK1/intron/ 0.1001 0.4162 0.5220 1 dominant HG002 HG002 chr15:77260244:TG:T 1,.,. 6.5716e-06 0 1 -1 -1 -1 PEAK1 50_intron 31,.,. 0.419355,.,. PEAK1/intron/;PEAK1/non_coding/ 0.1001 0.4162 0.5220 1 dominant HG002 HG002 chr15:77369707:G:T 1,.,. -1 -1 -1 -1 -1 -1 PEAK1 50_intron 55,.,. 0.527273,.,. PEAK1/intron/;PEAK1/non_coding/ 0.1001 0.4162 0.5220 1 dominant HG002 HG002 chr15:77379605:G:C 1,.,. 1.9721e-05 0 3 -1 -1 -1 PEAK1 50_intron 51,.,. 0.45098,.,. PEAK1/intron/;PEAK1/non_coding/ 0.1001 0.4162 0.5220 1 dominant HG002 HG002 chr15:77536625:C:CGTGTGTGTGCGT 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.4,.,. dominant HG002 HG002 chr15:77586790:C:G 1,.,. 1.97288e-05 0 3 -1 -1 -1 26,.,. 0.346154,.,. dominant HG002 HG002 chr15:77626042:T:A 1,.,. 1.97125e-05 0 3 -1 -1 -1 LINGO1 50_intron 22,.,. 0.636364,.,. LINGO1/intron/ 0.9123 0.3321 0.5500 1 Intellectual disability, autosomal recessive 64 0.000 dominant HG002 HG002 chr15:77664164:T:TGTGCGCGCGC 1,.,. -1 -1 -1 -1 -1 -1 LINGO1 50_intron 30,.,. 0.4,.,. LINGO1/intron/ 0.9123 0.3321 0.5500 1 Intellectual disability, autosomal recessive 64 0.000 dominant HG002 HG002 chr15:77751318:T:A 1,.,. 1.31375e-05 0 2 -1 -1 -1 LINGO1 50_intron 23,.,. 0.565217,.,. LINGO1/intron/;LINGO1/non_coding/ 0.9123 0.3321 0.5500 1 Intellectual disability, autosomal recessive 64 0.000 dominant HG002 HG002 chr15:77835176:TCTG:T 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.526316,.,. dominant HG002 HG002 chr15:77835180:T:G 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.526316,.,. dominant HG002 HG002 chr15:77892688:G:GCTGGGGTCA 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.5,.,. dominant HG002 HG002 chr15:77892691:C:G 1,.,. 1.31645e-05 0 2 -1 -1 -1 21,.,. 0.47619,.,. dominant HG002 HG002 chr15:77913409:ACACGCATCTCTCCCTG:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr15:77913427:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr15:77956158:T:C 1,.,. 1.97117e-05 0 3 -1 -1 -1 36,.,. 0.555556,.,. recessive HG002 HG002 chr15:77989586:CTGTCTCCTGCCCTCCTGCCCATGGGCT:C 2,.,. -1 -1 -1 -1 -1 -1 ADAMTS7P3;TBC1D2B 50_intron 15,.,. 1,.,. ADAMTS7P3/non_coding/;TBC1D2B/intron/ 0.0000 0.5892 0.7390 3 Neurodevelopmental disorder with seizures and gingival overgrowth 0.000 recessive HG002 HG002 chr15:77989614:G:C 2,.,. -1 -1 -1 -1 -1 -1 ADAMTS7P3;TBC1D2B 50_intron 15,.,. 1,.,. ADAMTS7P3/non_coding/;TBC1D2B/intron/ 0.0000 0.5892 0.7390 3 Neurodevelopmental disorder with seizures and gingival overgrowth 0.000 recessive HG002 HG002 chr15:77989615:C:A 2,.,. -1 -1 -1 -1 -1 -1 ADAMTS7P3;TBC1D2B 50_intron 15,.,. 1,.,. ADAMTS7P3/non_coding/;TBC1D2B/intron/ 0.0000 0.5892 0.7390 3 Neurodevelopmental disorder with seizures and gingival overgrowth 0.000 dominant HG002 HG002 chr15:78194679:T:C 1,.,. 2.63047e-05 0 4 -1 -1 -1 ACSBG1 14_missense 31,.,. 0.451613,.,. ACSBG1/missense/ENST00000258873;ACSBG1/missense/ENST00000559241;ACSBG1/missense/ENST00000558130;ACSBG1/missense&NMD_transcript/ENST00000559707;ACSBG1/3_prime_utr&NMD_transcript/ENST00000557935;ACSBG1/5_prime_utr/ENST00000559114 0.0032 0.4548 0.5940 2 dominant HG002 HG002 chr15:78373684:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr15:78453591:TC:T 1,.,. 1.97122e-05 0 3 -1 -1 -1 IREB2 50_intron 29,.,. 0.482759,.,. IREB2/intron/;IREB2/non_coding/ 1.0000 0.2563 0.3890 0 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 0.000 recessive HG002 HG002 chr15:78744421:C:A 2,.,. -1 -1 -1 0.0112123 0 32 21,.,. 1,.,. dominant HG002 HG002 chr15:79017812:C:T 1,.,. 6.57134e-06 0 1 -1 -1 -1 RASGRF1 30_synonymous 32,.,. 0.4375,.,. RASGRF1/synonymous/ENST00000558480;RASGRF1/synonymous/ENST00000419573 1.0000 0.2652 0.3500 0 dominant HG002 HG002 chr15:79319997:T:A 1,.,. -1 -1 -1 -1 -1 -1 TMED3 50_intron 35,.,. 0.6,.,. TMED3/intron/;TMED3/non_coding/ 0.0021 0.6158 0.9790 4 dominant HG002 HG002 chr15:79319998:G:T 1,.,. -1 -1 -1 -1 -1 -1 TMED3 50_intron 35,.,. 0.6,.,. TMED3/intron/;TMED3/non_coding/ 0.0021 0.6158 0.9790 4 dominant HG002 HG002 chr15:79319999:A:C 1,.,. -1 -1 -1 -1 -1 -1 TMED3 50_intron 35,.,. 0.6,.,. TMED3/intron/;TMED3/non_coding/ 0.0021 0.6158 0.9790 4 dominant HG002 HG002 chr15:79320000:T:A 1,.,. -1 -1 -1 -1 -1 -1 TMED3 50_intron 35,.,. 0.6,.,. TMED3/intron/;TMED3/non_coding/ 0.0021 0.6158 0.9790 4 dominant HG002 HG002 chr15:79560120:G:T 1,.,. -1 -1 -1 -1 -1 -1 AC023968.2 53_non_coding 33,.,. 0.545455,.,. AC023968.2/non_coding/ dominant HG002 HG002 chr15:79729635:C:CTGGGTGA 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.428571,.,. dominant HG002 HG002 chr15:79729637:T:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr15:79729638:G:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. recessive HG002 HG002 chr15:80171340:T:TGCCTACAAAG 2,.,. -1 -1 -1 -1 -1 -1 FAH 50_intron 36,.,. 1,.,. FAH/intron/;FAH/non_coding/ 0.0000 0.8252 1.0670 5 Tyrosinemia type I 0.000 recessive HG002 HG002 chr15:80171342:T:C 2,.,. 6.57955e-06 0 1 -1 -1 -1 FAH 50_intron 36,.,. 1,.,. FAH/intron/;FAH/non_coding/ 0.0000 0.8252 1.0670 5 Tyrosinemia type I 0.000 recessive HG002 HG002 chr15:80171344:G:T 2,.,. -1 -1 -1 -1 -1 -1 FAH 50_intron 36,.,. 1,.,. FAH/intron/;FAH/non_coding/ 0.0000 0.8252 1.0670 5 Tyrosinemia type I 0.000 recessive HG002 HG002 chr15:80171346:G:A 2,.,. -1 -1 -1 -1 -1 -1 FAH 50_intron 35,.,. 1,.,. FAH/intron/;FAH/non_coding/ 0.0000 0.8252 1.0670 5 Tyrosinemia type I 0.000 dominant HG002 HG002 chr15:80284976:A:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.531915,.,. dominant HG002 HG002 chr15:80610994:C:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.37037,.,. dominant HG002 HG002 chr15:80679204:G:A 1,.,. -1 -1 -1 0.000700771 0 2 34,.,. 0.588235,.,. dominant HG002 HG002 chr15:81046903:GGAA:G 1,.,. -1 -1 -1 -1 -1 -1 CFAP161 50_intron 39,.,. 0.487179,.,. CFAP161/intron/ 0.0003 0.6683 1.0290 5 dominant HG002 HG002 chr15:81046907:G:A 1,.,. -1 -1 -1 -1 -1 -1 CFAP161 50_intron 39,.,. 0.487179,.,. CFAP161/intron/ 0.0003 0.6683 1.0290 5 dominant HG002 HG002 chr15:81121513:AAC:A 1,.,. -1 -1 -1 -1 -1 -1 CFAP161 50_intron 47,.,. 0.446809,.,. CFAP161/intron/ 0.0003 0.6683 1.0290 5 dominant HG002 HG002 chr15:81121517:C:A 1,.,. -1 -1 -1 -1 -1 -1 CFAP161 50_intron 45,.,. 0.466667,.,. CFAP161/intron/ 0.0003 0.6683 1.0290 5 dominant HG002 HG002 chr15:81438022:T:TTAAC 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.588235,.,. dominant HG002 HG002 chr15:81438023:A:T 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.588235,.,. dominant HG002 HG002 chr15:81551467:T:C 1,.,. 1.31494e-05 0 2 -1 -1 -1 51,.,. 0.588235,.,. dominant HG002 HG002 chr15:81731947:T:C 1,.,. -1 -1 -1 0.00140154 0 4 48,.,. 0.375,.,. dominant HG002 HG002 chr15:82004436:A:ATATG 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr15:82311348:C:CCCTT 1,.,. -1 -1 -1 -1 -1 -1 ADAMTS7P1 53_non_coding 21,.,. 0.428571,.,. ADAMTS7P1/non_coding/ dominant HG002 HG002 chr15:82477228:G:C 1,.,. -1 -1 -1 -1 -1 -1 CSPG4P10;GOLGA2P10 53_non_coding 39,.,. 0.435897,.,. CSPG4P10/non_coding/;GOLGA2P10/non_coding/ dominant HG002 HG002 chr15:82612849:C:A 1,.,. -1 -1 -1 -1 -1 -1 CPEB1 50_intron 34,.,. 0.323529,.,. CPEB1/intron/ 1.0000 0.0843 0.1770 0 dominant HG002 HG002 chr15:82860949:T:TGAGAGAGAGAGAG 1,.,. -1 -1 -1 -1 -1 -1 HOMER2 50_intron 23,.,. 0.304348,.,. HOMER2/intron/;HOMER2/non_coding/ 0.0000 0.6503 0.9210 4 Autosomal dominant nonsyndromic hearing loss 68 0.000 dominant HG002 HG002 chr15:82910938:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 HOMER2 50_intron 44,.,. 0.5,.,. HOMER2/intron/;HOMER2/non_coding/ 0.0000 0.6503 0.9210 4 Autosomal dominant nonsyndromic hearing loss 68 0.000 dominant HG002 HG002 chr15:82910939:G:T 1,.,. -1 -1 -1 -1 -1 -1 HOMER2 50_intron 44,.,. 0.5,.,. HOMER2/intron/;HOMER2/non_coding/ 0.0000 0.6503 0.9210 4 Autosomal dominant nonsyndromic hearing loss 68 0.000 dominant HG002 HG002 chr15:83086312:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr15:83166822:G:A 1,.,. -1 -1 -1 -1 -1 -1 HDGFL3 50_intron 51,.,. 0.588235,.,. HDGFL3/intron/;HDGFL3/non_coding/ 0.9991 0.0558 0.2650 0 dominant HG002 HG002 chr15:83223500:C:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr15:83228958:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr15:83697790:C:T 1,.,. -1 -1 -1 -1 -1 -1 ADAMTSL3 50_intron 36,.,. 0.388889,.,. ADAMTSL3/intron/;ADAMTSL3/non_coding/ 0.0000 0.5930 0.6920 2 dominant HG002 HG002 chr15:83831708:C:T 1,.,. 2.63099e-05 0 4 -1 -1 -1 ADAMTSL3 50_intron 40,.,. 0.475,.,. ADAMTSL3/intron/;ADAMTSL3/non_coding/ 0.0000 0.5930 0.6920 2 dominant HG002 HG002 chr15:83914847:GGTTTTGTT:G 1,.,. -1 -1 -1 -1 -1 -1 ADAMTSL3 50_intron 34,.,. 0.5,.,. ADAMTSL3/intron/;ADAMTSL3/non_coding/ 0.0000 0.5930 0.6920 2 recessive HG002 HG002 chr15:84402775:G:A 2,.,. 0.000101719 0 10 -1 -1 -1 DNM1P51;CSPG4P5 53_non_coding 33,.,. 1,.,. DNM1P51/non_coding/;CSPG4P5/non_coding/ recessive HG002 HG002 chr15:84468671:A:AGGGTGTGCTGCCAGCCCCTGGCTCACCCAGTGGCCTC 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. dominant HG002 HG002 chr15:84501057:A:G 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.55,.,. recessive HG002 HG002 chr15:84503292:ATG:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chr15:84899959:GGAAGGAAA:G 1,.,. -1 -1 -1 -1 -1 -1 SLC28A1 50_intron 29,.,. 0.310345,.,. SLC28A1/intron/ 0.0000 0.8452 1.0460 5 Uridine-cytidineuria 0.000 dominant HG002 HG002 chr15:85310269:A:AAAACAAAC 1,.,. -1 -1 -1 -1 -1 -1 ADAMTS7P4 53_non_coding 34,.,. 0.529412,.,. ADAMTS7P4/non_coding/ dominant HG002 HG002 chr15:85491493:A:ATATATTTAT 1,.,. 2.54518e-05 0 1 -1 -1 -1 AKAP13 50_intron 41,.,. 0.585366,.,. AKAP13/intron/ 1.0000 0.2985 0.3620 0 dominant HG002 HG002 chr15:85577328:TGAATG:T 1,.,. -1 -1 -1 -1 -1 -1 AKAP13 50_intron 26,.,. 0.423077,.,. AKAP13/intron/ 1.0000 0.2985 0.3620 0 dominant HG002 HG002 chr15:85577335:C:G 1,.,. -1 -1 -1 -1 -1 -1 AKAP13 50_intron 26,.,. 0.423077,.,. AKAP13/intron/ 1.0000 0.2985 0.3620 0 dominant HG002 HG002 chr15:85843047:C:G 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.44,.,. dominant HG002 HG002 chr15:85930650:ATCTCCTGCCTTCTCTCTACCCCCC:A 1,.,. -1 -1 -1 0.000700771 0 2 40,.,. 0.525,.,. dominant HG002 HG002 chr15:86155110:C:T 1,.,. 6.5741e-06 0 1 -1 -1 -1 AGBL1 50_intron 46,.,. 0.565217,.,. AGBL1/intron/ 0.0000 1.1287 1.3130 7 Corneal dystrophy, Fuchs endothelial, 8 0.000 dominant HG002 HG002 chr15:86192047:G:A 1,.,. -1 -1 -1 -1 -1 -1 AGBL1 50_intron 53,.,. 0.377358,.,. AGBL1/intron/ 0.0000 1.1287 1.3130 7 Corneal dystrophy, Fuchs endothelial, 8 0.000 recessive HG002 HG002 chr15:86495085:G:GCT 2,.,. -1 -1 -1 -1 -1 -1 AGBL1 50_intron 42,.,. 1,.,. AGBL1/intron/ 0.0000 1.1287 1.3130 7 Corneal dystrophy, Fuchs endothelial, 8 0.000 recessive HG002 HG002 chr15:86510351:G:GTAAGTTT 2,.,. -1 -1 -1 -1 -1 -1 AGBL1 50_intron 51,.,. 1,.,. AGBL1/intron/ 0.0000 1.1287 1.3130 7 Corneal dystrophy, Fuchs endothelial, 8 0.000 recessive HG002 HG002 chr15:86665361:C:A 2,.,. -1 -1 -1 -1 -1 -1 AGBL1 50_intron 38,.,. 1,.,. AGBL1/intron/ 0.0000 1.1287 1.3130 7 Corneal dystrophy, Fuchs endothelial, 8 0.000 recessive HG002 HG002 chr15:86665366:A:C 2,.,. -1 -1 -1 -1 -1 -1 AGBL1 50_intron 39,.,. 1,.,. AGBL1/intron/ 0.0000 1.1287 1.3130 7 Corneal dystrophy, Fuchs endothelial, 8 0.000 dominant HG002 HG002 chr15:86843892:T:TAGTCCCAGC 1,.,. -1 -1 -1 0.00140154 0 4 AGBL1 50_intron 36,.,. 0.444444,.,. AGBL1/intron/ 0.0000 1.1287 1.3130 7 Corneal dystrophy, Fuchs endothelial, 8 0.000 dominant HG002 HG002 chr15:86843894:C:CAGTTA 1,.,. -1 -1 -1 0.00140154 0 4 AGBL1 50_intron 37,.,. 0.405405,.,. AGBL1/intron/ 0.0000 1.1287 1.3130 7 Corneal dystrophy, Fuchs endothelial, 8 0.000 dominant HG002 HG002 chr15:87512566:G:C 1,.,. -1 -1 -1 0.000700771 0 2 38,.,. 0.368421,.,. dominant HG002 HG002 chr15:87577303:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr15:87609563:G:A 1,.,. 2.62874e-05 0 4 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr15:87768524:T:TCAA 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.384615,.,. recessive HG002 HG002 chr15:87874248:A:AGACTCT 2,.,. -1 -1 -1 -1 -1 -1 NTRK3 36_3_prime_utr 25,.,. 1,.,. NTRK3/3_prime_utr/ENST00000394480 1.0000 0.2452 0.3470 0 recessive HG002 HG002 chr15:87874253:A:AGACAGGACAGCCAGGGCTGAAGGATGGCAGG 2,.,. -1 -1 -1 -1 -1 -1 NTRK3 36_3_prime_utr 24,.,. 1,.,. NTRK3/3_prime_utr/ENST00000394480 1.0000 0.2452 0.3470 0 dominant HG002 HG002 chr15:87999871:T:C 1,.,. 2.62933e-05 0 4 -1 -1 -1 NTRK3 50_intron 36,.,. 0.361111,.,. NTRK3/intron/ 1.0000 0.2452 0.3470 0 dominant HG002 HG002 chr15:88245033:G:A 1,.,. 2.6286e-05 0 4 -1 -1 -1 NTRK3 50_intron 25,.,. 0.4,.,. NTRK3/intron/ 1.0000 0.2452 0.3470 0 dominant HG002 HG002 chr15:88246148:C:T 1,.,. 2.62795e-05 0 4 -1 -1 -1 NTRK3 50_intron 25,.,. 0.4,.,. NTRK3/intron/ 1.0000 0.2452 0.3470 0 dominant HG002 HG002 chr15:88557764:G:A 1,.,. 6.57661e-06 0 1 -1 -1 -1 30,.,. 0.366667,.,. recessive HG002 HG002 chr15:88606548:T:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chr15:88690054:G:GGA 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr15:88690060:G:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr15:88842518:T:C 1,.,. -1 -1 -1 -1 -1 -1 ACAN 50_intron 35,.,. 0.571429,.,. ACAN/intron/ 1.0000 0.2951 0.3770 0 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans;Spondyloepiphyseal dysplasia, Kimberley type;Spondyloepimetaphyseal dysplasia, aggrecan type 0.000 dominant HG002 HG002 chr15:88842525:T:C 1,.,. -1 -1 -1 -1 -1 -1 ACAN 50_intron 32,.,. 0.53125,.,. ACAN/intron/ 1.0000 0.2951 0.3770 0 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans;Spondyloepiphyseal dysplasia, Kimberley type;Spondyloepimetaphyseal dysplasia, aggrecan type 0.000 dominant HG002 HG002 chr15:88888067:G:A 1,.,. -1 -1 -1 -1 -1 -1 HAPLN3 50_intron 27,.,. 0.407407,.,. HAPLN3/intron/;HAPLN3/non_coding/ 0.0000 0.9465 1.2840 7 dominant HG002 HG002 chr15:89041566:C:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. recessive HG002 HG002 chr15:89214634:G:A 2,.,. -1 -1 -1 -1 -1 -1 RLBP1 50_intron 26,.,. 1,.,. RLBP1/intron/ 0.0000 0.6875 0.9540 4 Pigmentary retinal dystrophy;Bothnia retinal dystrophy;Newfoundland cone-rod dystrophy 0.000 recessive HG002 HG002 chr15:89214635:C:T 2,.,. -1 -1 -1 -1 -1 -1 RLBP1 50_intron 26,.,. 1,.,. RLBP1/intron/ 0.0000 0.6875 0.9540 4 Pigmentary retinal dystrophy;Bothnia retinal dystrophy;Newfoundland cone-rod dystrophy 0.000 recessive HG002 HG002 chr15:89598151:T:G 2,.,. 0.00127744 3 193 0.00175193 0 5 TICRR 50_intron 30,.,. 1,.,. TICRR/intron/ 0.0000 0.7479 0.8660 4 recessive HG002 HG002 chr15:89790076:T:A 2,.,. -1 -1 -1 -1 -1 -1 ANPEP 50_intron 33,.,. 1,.,. ANPEP/intron/ 0.0000 0.5778 0.7050 2 dominant HG002 HG002 chr15:90113279:C:G 1,.,. 5.99377e-05 0 1 -1 -1 -1 25,.,. 0.6,.,. dominant HG002 HG002 chr15:90176082:G:A 1,.,. 1.97298e-05 0 3 -1 -1 -1 SEMA4B 50_intron 20,.,. 0.6,.,. SEMA4B/intron/ 0.0000 0.7039 0.8830 4 recessive HG002 HG002 chr15:90465681:G:T 2,.,. -1 -1 -1 -1 -1 -1 IQGAP1 50_intron 48,.,. 1,.,. IQGAP1/intron/ 1.0000 0.3120 0.3950 0 dominant HG002 HG002 chr15:90569551:C:G 1,.,. -1 -1 -1 -1 -1 -1 CRTC3 50_intron 38,.,. 0.421053,.,. CRTC3/intron/;CRTC3/non_coding/ 0.8773 0.3582 0.5440 1 dominant HG002 HG002 chr15:90569554:A:C 1,.,. -1 -1 -1 -1 -1 -1 CRTC3 50_intron 39,.,. 0.410256,.,. CRTC3/intron/;CRTC3/non_coding/ 0.8773 0.3582 0.5440 1 dominant HG002 HG002 chr15:90569555:T:C 1,.,. 4.23066e-05 1 2 -1 -1 -1 CRTC3 50_intron 38,.,. 0.421053,.,. CRTC3/intron/;CRTC3/non_coding/ 0.8773 0.3582 0.5440 1 dominant HG002 HG002 chr15:90681316:A:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr15:90792092:TTC:T 1,.,. 1.01831e-05 0 1 -1 -1 -1 BLM 50_intron 28,.,. 0.464286,.,. BLM/intron/;BLM/non_coding/ 0.0000 0.7112 0.8470 3 Bloom syndrome 0.000 dominant HG002 HG002 chr15:90792095:T:C 1,.,. -1 -1 -1 -1 -1 -1 BLM 50_intron 26,.,. 0.538462,.,. BLM/intron/;BLM/non_coding/ 0.0000 0.7112 0.8470 3 Bloom syndrome 0.000 dominant HG002 HG002 chr15:90869619:C:CCAAAGGCA 1,.,. -1 -1 -1 -1 -1 -1 FURIN 50_intron 22,.,. 0.545455,.,. FURIN/intron/ 1.0000 0.2001 0.3000 0 dominant HG002 HG002 chr15:90869620:A:G 1,.,. -1 -1 -1 -1 -1 -1 FURIN 50_intron 22,.,. 0.545455,.,. FURIN/intron/ 1.0000 0.2001 0.3000 0 dominant HG002 HG002 chr15:91107175:A:G 1,.,. 1.31532e-05 0 2 -1 -1 -1 SV2B 50_intron 40,.,. 0.65,.,. SV2B/intron/;SV2B/non_coding/ 0.0000 0.5206 0.6800 2 dominant HG002 HG002 chr15:91318260:G:T 1,.,. 1.31399e-05 0 2 -1 -1 -1 43,.,. 0.55814,.,. recessive HG002 HG002 chr15:91505786:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. dominant HG002 HG002 chr15:91612451:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.630435,.,. dominant HG002 HG002 chr15:91904415:CGTGAT:C 1,.,. -1 -1 -1 -1 -1 -1 SLCO3A1 50_intron 37,.,. 0.567568,.,. SLCO3A1/intron/;SLCO3A1/non_coding/ 0.0236 0.4535 0.6380 2 dominant HG002 HG002 chr15:91904421:A:C 1,.,. 2.24942e-05 0 3 -1 -1 -1 SLCO3A1 50_intron 37,.,. 0.567568,.,. SLCO3A1/intron/;SLCO3A1/non_coding/ 0.0236 0.4535 0.6380 2 dominant HG002 HG002 chr15:91904422:C:A 1,.,. -1 -1 -1 -1 -1 -1 SLCO3A1 50_intron 38,.,. 0.578947,.,. SLCO3A1/intron/;SLCO3A1/non_coding/ 0.0236 0.4535 0.6380 2 dominant HG002 HG002 chr15:92668569:A:AACACACACACACAC 1,.,. -1 -1 -1 -1 -1 -1 FAM174B 50_intron 34,.,. 0.323529,.,. FAM174B/intron/ 0.0000 1.2269 1.8310 9 dominant HG002 HG002 chr15:92722312:TTTTGTTTGTTTG:T 1,.,. 4.47801e-05 0 3 -1 -1 -1 FAM174B;H2AZ2P1 50_intron 45,.,. 0.377778,.,. FAM174B/intron/;H2AZ2P1/non_coding/ 0.0000 1.2269 1.8310 9 dominant HG002 HG002 chr15:92722332:G:T 1,.,. 1.52788e-05 0 1 -1 -1 -1 FAM174B;H2AZ2P1 50_intron 42,.,. 0.404762,.,. FAM174B/intron/;H2AZ2P1/non_coding/ 0.0000 1.2269 1.8310 9 dominant HG002 HG002 chr15:92862098:T:TTTG 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.548387,.,. recessive HG002 HG002 chr15:92932835:G:GCAACCTCCGCCTCCT 2,.,. -1 -1 -1 -1 -1 -1 AC013394.1;CHD2 50_intron 37,.,. 1,.,. AC013394.1/non_coding/;CHD2/intron/;CHD2/non_coding/ 1.0000 0.1238 0.1740 0 Developmental and epileptic encephalopathy 94 0.000 recessive HG002 HG002 chr15:92932836:T:G 2,.,. -1 -1 -1 -1 -1 -1 AC013394.1;CHD2 50_intron 36,.,. 1,.,. AC013394.1/non_coding/;CHD2/intron/;CHD2/non_coding/ 1.0000 0.1238 0.1740 0 Developmental and epileptic encephalopathy 94 0.000 dominant HG002 HG002 chr15:93031534:G:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr15:93167940:T:TTCCCTCCC 1,.,. 0.000108814 0 1 -1 -1 -1 18,.,. 0.222222,.,. dominant HG002 HG002 chr15:93207072:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr15:93549997:TC:T 1,.,. 2.63925e-05 0 4 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr15:93751126:G:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.52,.,. dominant HG002 HG002 chr15:93753126:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.4,.,. dominant HG002 HG002 chr15:93823810:C:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr15:94211738:T:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr15:94211739:AATAGGCATCCGG:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr15:95029359:G:A 1,.,. 6.58753e-06 0 1 -1 -1 -1 AC087633.2 53_non_coding 49,.,. 0.44898,.,. AC087633.2/non_coding/ dominant HG002 HG002 chr15:95901298:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr15:96013187:A:AGT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr15:96350065:G:T 1,.,. 1.3142e-05 0 2 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr15:96506965:A:G 1,.,. 1.31387e-05 0 2 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr15:96616078:C:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.357143,.,. recessive HG002 HG002 chr15:96823260:T:A 2,.,. 0.000859845 0 38 0.0129643 0 37 40,.,. 1,.,. dominant HG002 HG002 chr15:96944150:A:T 1,.,. 1.31733e-05 0 2 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr15:97017896:CTGA:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.543478,.,. dominant HG002 HG002 chr15:97017900:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.543478,.,. recessive HG002 HG002 chr15:97159621:T:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr15:97206583:TCACTAAAAATAGAAG:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr15:97206600:T:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr15:97457575:G:GAAATAAAT 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr15:97487858:T:TATAGATAGATAG 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr15:98145959:TCCAGGAA:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr15:98145968:T:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr15:98206925:T:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.38,.,. dominant HG002 HG002 chr15:98249498:G:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.666667,.,. dominant HG002 HG002 chr15:98249989:G:A 1,.,. 2.62961e-05 0 4 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr15:98300577:A:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr15:98634424:T:G 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.611111,.,. dominant HG002 HG002 chr15:98634425:G:C 1,.,. -1 -1 -1 -1 -1 -1 16,.,. 0.625,.,. dominant HG002 HG002 chr15:98634426:C:G 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.611111,.,. dominant HG002 HG002 chr15:98954274:A:G 1,.,. -1 -1 -1 -1 -1 -1 IGF1R 50_intron 38,.,. 0.5,.,. IGF1R/intron/;IGF1R/non_coding/ 1.0000 0.3058 0.3930 0 Growth delay due to insulin-like growth factor I resistance 0.000 dominant HG002 HG002 chr15:99234364:C:CTATTTATT 1,.,. -1 -1 -1 -1 -1 -1 TTC23 50_intron 39,.,. 0.512821,.,. TTC23/intron/;TTC23/non_coding/ 0.0000 1.0217 1.2710 7 dominant HG002 HG002 chr15:99783348:A:G 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr15:99788498:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.617647,.,. recessive HG002 HG002 chr15:99798473:A:G 2,.,. -1 -1 -1 -1 -1 -1 DNM1P46 53_non_coding 31,.,. 1,.,. DNM1P46/non_coding/ recessive HG002 HG002 chr15:99798474:T:A 2,.,. -1 -1 -1 -1 -1 -1 DNM1P46 53_non_coding 31,.,. 1,.,. DNM1P46/non_coding/ dominant HG002 HG002 chr15:99799970:T:A 1,.,. -1 -1 -1 -1 -1 -1 DNM1P46 53_non_coding 33,.,. 0.454545,.,. DNM1P46/non_coding/ dominant HG002 HG002 chr15:99861548:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.385965,.,. dominant HG002 HG002 chr15:99958916:G:GCCTGTCC 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.305556,.,. dominant HG002 HG002 chr15:99958918:G:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.305556,.,. dominant HG002 HG002 chr15:100072445:C:A 1,.,. -1 -1 -1 -1 -1 -1 ADAMTS17 50_intron 25,.,. 0.36,.,. ADAMTS17/intron/;ADAMTS17/non_coding/ 0.0000 0.8260 0.9660 4 Weill-Marchesani 4 syndrome, recessive 0.000 dominant HG002 HG002 chr15:100680751:C:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr15:100688622:C:CCCACT 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr15:100706338:T:TGCTACCAATGCTCACCCTGTCCATGCGCTACCAATGCTCACCCTGTCCATGCGCTACCAATGCTCACCCTGTCCATGCGCTACCAATGCTCACCCTGTCCATGCGCTACCAATGCTCACCCTGTCCATGC 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr15:101001479:G:C 1,.,. -1 -1 -1 -1 -1 -1 LRRK1 50_intron 41,.,. 0.609756,.,. LRRK1/intron/ 0.0000 0.5369 0.6310 2 Osteosclerotic metaphyseal dysplasia 0.000 dominant HG002 HG002 chr15:101348174:G:C 1,.,. 1.31681e-05 0 2 -1 -1 -1 PCSK6 50_intron 36,.,. 0.361111,.,. PCSK6/intron/;PCSK6/non_coding/ 0.0000 0.7522 0.9090 4 dominant HG002 HG002 chr15:101545905:G:C 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.5,.,. dominant HG002 HG002 chr15:101579185:A:ACGGGGGTG 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5625,.,. dominant HG002 HG002 chr15:101607087:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.315789,.,. dominant HG002 HG002 chr15:101630264:G:A 1,.,. -1 -1 -1 0.000700771 0 2 TM2D3 53_non_coding 42,.,. 0.571429,.,. TM2D3/non_coding/ 0.0000 1.1750 1.5700 8 dominant HG002 HG002 chr15:101794694:TATATGCTATCTA:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr15:101794707:T:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr15:101870601:C:T 1,.,. -1 -1 -1 0.00105116 0 3 41,.,. 0.414634,.,. recessive HG002 HG002 chr16:70007:CAG:C 2,.,. -1 -1 -1 0.0126139 0 36 RHBDF1 50_intron 14,.,. 1,.,. RHBDF1/intron/;RHBDF1/non_coding/ 0.0000 0.8479 1.0220 5 recessive HG002 HG002 chr16:138615:ACG:A 2,.,. 1.40119e-05 0 1 -1 -1 -1 NPRL3 35_5_prime_utr 34,.,. 1,.,. NPRL3/5_prime_utr&NMD_transcript/ENST00000621703 0.0641 0.4447 0.6530 2 Epilepsy, familial focal, with variable foci 3 0.000 recessive HG002 HG002 chr16:138618:C:G 2,.,. 0.00909091 0 1 -1 -1 -1 NPRL3 35_5_prime_utr 33,.,. 1,.,. NPRL3/5_prime_utr&NMD_transcript/ENST00000621703 0.0641 0.4447 0.6530 2 Epilepsy, familial focal, with variable foci 3 0.000 dominant HG002 HG002 chr16:410395:G:T 1,.,. -1 -1 -1 -1 -1 -1 DECR2 36_3_prime_utr 12,.,. 0.5,.,. DECR2/3_prime_utr&NMD_transcript/ENST00000429116 0.0000 1.3102 1.7310 8 recessive HG002 HG002 chr16:664176:AAACCCCGTGCGTG:A 2,.,. -1 -1 -1 -1 -1 -1 WDR90 50_intron 15,.,. 1,.,. WDR90/intron/;WDR90/non_coding/ 0.0000 1.3303 1.4810 8 recessive HG002 HG002 chr16:664190:C:G 2,.,. -1 -1 -1 -1 -1 -1 WDR90 50_intron 15,.,. 1,.,. WDR90/intron/;WDR90/non_coding/ 0.0000 1.3303 1.4810 8 dominant HG002 HG002 chr16:977987:T:TACATAC 1,.,. -1 -1 -1 -1 -1 -1 LMF1 50_intron 19,.,. 0.473684,.,. LMF1/intron/ 0.0000 1.1737 1.4360 7 Lipase deficiency, combined 0.000 dominant HG002 HG002 chr16:1041016:C:T 1,.,. -1 -1 -1 -1 -1 -1 14,.,. 0.571429,.,. dominant HG002 HG002 chr16:1058009:C:CT 1,.,. 1.31511e-05 0 2 -1 -1 -1 17,.,. 0.411765,.,. recessive HG002 HG002 chr16:1307994:G:A 2,.,. 0.000581842 3 50 0.00875964 2 25 16,.,. 1,.,. dominant HG002 HG002 chr16:1737158:G:A 1,.,. -1 -1 -1 -1 -1 -1 MAPK8IP3 50_intron 9,.,. 0.333333,.,. MAPK8IP3/intron/;MAPK8IP3/non_coding/ 1.0000 0.3205 0.4070 1 Neurodevelopmental disorder with or without variable brain abnormalities NEDBA 0.000 recessive HG002 HG002 chr16:1803791:T:A 2,.,. 4.56048e-05 0 4 -1 -1 -1 HAGH 50_intron 20,.,. 1,.,. HAGH/intron/ 0.0000 0.9464 1.4030 7 Hydroxyacyl glutathione hydrolase deficiency 0.000 dominant HG002 HG002 chr16:1983465:G:A 1,.,. 1.97065e-05 0 3 -1 -1 -1 NOXO1 50_intron 13,.,. 0.384615,.,. NOXO1/intron/ 0.0000 1.2941 1.6850 8 dominant HG002 HG002 chr16:2196534:C:CCCGCCGCCTCCT 1,.,. 2.07062e-05 0 3 -1 -1 -1 CASKIN1 35_5_prime_utr 24,.,. 0.333333,.,. CASKIN1/5_prime_utr/ENST00000343516 0.0003 0.4746 0.6140 2 dominant HG002 HG002 chr16:2905742:GGGGCTGGACCAATGGGC:G 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.5,.,. dominant HG002 HG002 chr16:2954586:C:CAGA 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.444444,.,. dominant HG002 HG002 chr16:2954590:G:A 1,.,. 5.2499e-05 0 2 -1 -1 -1 18,.,. 0.444444,.,. dominant HG002 HG002 chr16:2954591:A:T 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.444444,.,. dominant HG002 HG002 chr16:2954592:A:C 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.444444,.,. dominant HG002 HG002 chr16:3066960:A:AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCT 1,.,. -1 -1 -1 0.00140154 0 4 IL32 50_intron 31,.,. 0.419355,.,. IL32/intron/;IL32/non_coding/ 0.0000 1.6903 1.9540 9 recessive HG002 HG002 chr16:3450038:GAGAAA:G 2,.,. -1 -1 -1 -1 -1 -1 AC025283.2;NAA60 50_intron 24,.,. 1,.,. AC025283.2/intron/;NAA60/intron/;NAA60/non_coding/ 0.8157 0.3328 0.6000 2 Basal ganglia calcification, idiopathic, 9, autosomal recessive recessive HG002 HG002 chr16:3450045:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC025283.2;NAA60 50_intron 24,.,. 1,.,. AC025283.2/intron/;NAA60/intron/;NAA60/non_coding/ 0.8157 0.3328 0.6000 2 Basal ganglia calcification, idiopathic, 9, autosomal recessive dominant HG002 HG002 chr16:3544777:T:A 1,.,. 2.62916e-05 0 4 -1 -1 -1 NLRC3 50_intron 20,.,. 0.45,.,. NLRC3/intron/ 0.0000 1.1117 1.3860 7 dominant HG002 HG002 chr16:3670926:G:C 1,.,. -1 -1 -1 -1 -1 -1 DNASE1;TRAP1 50_intron 28,.,. 0.357143,.,. DNASE1/intron/;TRAP1/non_coding/ 0.0000;;0.0000 1.1254;;1.1400 1.4600;;1.3430 8;;7 0.000 recessive HG002 HG002 chr16:3928350:C:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr16:3928351:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr16:3928352:G:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr16:4064771:A:C 1,.,. 6.57895e-06 0 1 -1 -1 -1 ADCY9 50_intron 43,.,. 0.627907,.,. ADCY9/intron/ 0.0001 0.4768 0.6030 2 dominant HG002 HG002 chr16:4280352:G:A 1,.,. 2.62895e-05 0 4 -1 -1 -1 27,.,. 0.444444,.,. dominant HG002 HG002 chr16:4317560:C:T 1,.,. 1.97151e-05 0 3 -1 -1 -1 GLIS2 50_intron 23,.,. 0.565217,.,. GLIS2/intron/ 0.3270 0.4075 0.6370 2 Nephronophthisis 7 0.000 dominant HG002 HG002 chr16:4416033:C:G 1,.,. 1.97091e-05 0 3 -1 -1 -1 CORO7-PAM16 50_intron 21,.,. 0.428571,.,. CORO7-PAM16/intron/ 0.0000 0.8930 1.0410 5 dominant HG002 HG002 chr16:4428096:CGCCCGCCACCA:C 1,.,. -1 -1 -1 -1 -1 -1 DNAJA3 50_intron 24,.,. 0.333333,.,. DNAJA3/intron/;DNAJA3/non_coding/ 0.0002 0.5347 0.7370 2 dominant HG002 HG002 chr16:4428108:C:A 1,.,. -1 -1 -1 -1 -1 -1 DNAJA3 50_intron 24,.,. 0.333333,.,. DNAJA3/intron/;DNAJA3/non_coding/ 0.0002 0.5347 0.7370 2 dominant HG002 HG002 chr16:4742376:G:A 1,.,. 1.31634e-05 0 2 -1 -1 -1 C16orf71 50_intron 19,.,. 0.578947,.,. C16orf71/intron/;C16orf71/non_coding/ dominant HG002 HG002 chr16:4927909:C:A 1,.,. 1.97158e-05 0 3 -1 -1 -1 PPL 50_intron 26,.,. 0.384615,.,. PPL/intron/ 0.0000 1.0295 1.1600 6 dominant HG002 HG002 chr16:5357356:A:G 1,.,. 2.62781e-05 0 4 -1 -1 -1 RBFOX1 50_intron 34,.,. 0.441176,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:5426942:T:G 1,.,. 1.97163e-05 0 3 -1 -1 -1 RBFOX1 50_intron 24,.,. 0.416667,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:5544306:C:G 1,.,. 1.31522e-05 0 2 -1 -1 -1 RBFOX1 50_intron 35,.,. 0.571429,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:5544777:A:G 1,.,. 1.31491e-05 0 2 -1 -1 -1 RBFOX1 50_intron 35,.,. 0.542857,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:5657698:C:T 1,.,. 9.06158e-06 0 1 0.00105116 0 3 RBFOX1 50_intron 45,.,. 0.511111,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:5692175:G:T 1,.,. -1 -1 -1 -1 -1 -1 RBFOX1 50_intron 33,.,. 0.454545,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:5819020:C:A 1,.,. 6.57099e-06 0 1 -1 -1 -1 RBFOX1 50_intron 25,.,. 0.44,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:5877373:G:A 1,.,. 2.62888e-05 0 4 -1 -1 -1 RBFOX1 50_intron 38,.,. 0.447368,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:5999912:G:T 1,.,. -1 -1 -1 -1 -1 -1 RBFOX1 50_intron 25,.,. 0.56,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:6220727:C:CCA 1,.,. -1 -1 -1 -1 -1 -1 RBFOX1 50_intron 43,.,. 0.488372,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:6242627:C:A 1,.,. 1.9127e-05 0 1 -1 -1 -1 RBFOX1 50_intron 39,.,. 0.538462,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:6518773:A:ATCTG 1,.,. -1 -1 -1 -1 -1 -1 RBFOX1 50_intron 42,.,. 0.428571,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:6554819:C:G 1,.,. 7.59682e-06 0 1 -1 -1 -1 RBFOX1 50_intron 28,.,. 0.428571,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:6612857:A:T 1,.,. -1 -1 -1 -1 -1 -1 RBFOX1 50_intron 50,.,. 0.62,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 recessive HG002 HG002 chr16:6844132:C:G 2,.,. 0.00558243 0 60 0.00140154 1 4 RBFOX1 50_intron 43,.,. 1,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:6917268:A:C 1,.,. 6.57065e-06 0 1 -1 -1 -1 RBFOX1 50_intron 30,.,. 0.366667,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:7036746:G:A 1,.,. -1 -1 -1 -1 -1 -1 RBFOX1 50_intron 37,.,. 0.540541,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:7106984:A:C 1,.,. -1 -1 -1 -1 -1 -1 RBFOX1 50_intron 36,.,. 0.527778,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:7218075:GCGTC:G 1,.,. 1.78942e-05 0 2 -1 -1 -1 RBFOX1 50_intron 36,.,. 0.444444,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:7218637:T:C 1,.,. -1 -1 -1 -1 -1 -1 RBFOX1 50_intron 34,.,. 0.411765,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:7341772:C:CTCCTTCCT 1,.,. -1 -1 -1 -1 -1 -1 RBFOX1 50_intron 29,.,. 0.241379,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:7397610:T:G 1,.,. -1 -1 -1 -1 -1 -1 RBFOX1 50_intron 43,.,. 0.534884,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 recessive HG002 HG002 chr16:7492705:A:G 2,.,. -1 -1 -1 -1 -1 -1 RBFOX1 50_intron 40,.,. 1,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 recessive HG002 HG002 chr16:7492707:T:C 2,.,. -1 -1 -1 -1 -1 -1 RBFOX1 50_intron 39,.,. 1,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 recessive HG002 HG002 chr16:7513290:T:A 2,.,. -1 -1 -1 -1 -1 -1 RBFOX1 50_intron 27,.,. 1,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 recessive HG002 HG002 chr16:7565252:T:C 2,.,. 0.000270085 0 41 -1 -1 -1 RBFOX1 50_intron 41,.,. 1,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 recessive HG002 HG002 chr16:7565253:G:T 2,.,. -1 -1 -1 -1 -1 -1 RBFOX1 50_intron 41,.,. 1,.,. RBFOX1/intron/;RBFOX1/non_coding/ 1.0000 0.1726 0.3110 0 dominant HG002 HG002 chr16:7759268:T:TAATC 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.354839,.,. dominant HG002 HG002 chr16:7759272:A:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.354839,.,. dominant HG002 HG002 chr16:7875419:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.306122,.,. dominant HG002 HG002 chr16:7875420:T:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.326087,.,. dominant HG002 HG002 chr16:8292047:GTC:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr16:8292051:T:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr16:8326735:G:GTTTAGTTACCCCAT 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr16:8539558:C:T 1,.,. -1 -1 -1 -1 -1 -1 TMEM114 53_non_coding 24,.,. 0.375,.,. TMEM114/non_coding/ 0.0006 0.9563 1.6310 8 recessive HG002 HG002 chr16:8711725:A:AT 2,.,. 6.17767e-05 0 6 0.00805886 0 23 ABAT 50_intron 32,.,. 1,.,. ABAT/intron/;ABAT/non_coding/ 0.0000 0.6796 0.8710 4 Gamma-aminobutyric acid transaminase deficiency 0.000 dominant HG002 HG002 chr16:8789460:C:A 1,.,. -1 -1 -1 -1 -1 -1 TMEM186;PMM2 50_intron 40,.,. 0.475,.,. TMEM186/non_coding/;PMM2/intron/ 0.0223;;0.0000 0.9560;;1.5659 1.8110;;1.9370 9;;9 PMM2-congenital disorder of glycosylation 0.000 dominant HG002 HG002 chr16:9016163:G:GGCT 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr16:9016164:T:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.428571,.,. recessive HG002 HG002 chr16:9033782:TTCGGTCCCTCCC:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr16:9037768:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr16:9099263:TCTTGGCTCA:T 1,.,. -1 -1 -1 -1 -1 -1 C16orf72 50_intron 35,.,. 0.371429,.,. C16orf72/intron/ 0.9922 0.2473 0.4640 1 dominant HG002 HG002 chr16:9099273:T:G 1,.,. -1 -1 -1 -1 -1 -1 C16orf72 50_intron 35,.,. 0.371429,.,. C16orf72/intron/ 0.9922 0.2473 0.4640 1 dominant HG002 HG002 chr16:9153504:GTGTA:G 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.47619,.,. dominant HG002 HG002 chr16:9153510:T:A 1,.,. 1.43275e-05 0 1 -1 -1 -1 21,.,. 0.47619,.,. dominant HG002 HG002 chr16:9283116:A:C 1,.,. 0.000184593 0 3 -1 -1 -1 36,.,. 0.444444,.,. recessive HG002 HG002 chr16:9285586:TTTAGGGTAC:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr16:9285597:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr16:9584486:T:A 1,.,. 0.000306984 0 4 -1 -1 -1 48,.,. 0.520833,.,. dominant HG002 HG002 chr16:9584487:AATG:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr16:9713322:CAG:C 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.48,.,. dominant HG002 HG002 chr16:9713327:A:G 1,.,. 1.02915e-05 0 1 -1 -1 -1 50,.,. 0.48,.,. dominant HG002 HG002 chr16:9988278:T:TGTGCGTGTGTGC 1,.,. 2.69716e-05 0 3 -1 -1 -1 GRIN2A 50_intron 43,.,. 0.511628,.,. GRIN2A/intron/;GRIN2A/non_coding/ 1.0000 0.1847 0.2680 0 Landau-Kleffner syndrome 0.000 dominant HG002 HG002 chr16:10062159:T:A 1,.,. -1 -1 -1 -1 -1 -1 GRIN2A 50_intron 43,.,. 0.488372,.,. GRIN2A/intron/;GRIN2A/non_coding/ 1.0000 0.1847 0.2680 0 Landau-Kleffner syndrome 0.000 recessive HG002 HG002 chr16:10119387:T:A 2,.,. -1 -1 -1 -1 -1 -1 GRIN2A 50_intron 41,.,. 1,.,. GRIN2A/intron/;GRIN2A/non_coding/ 1.0000 0.1847 0.2680 0 Landau-Kleffner syndrome 0.000 recessive HG002 HG002 chr16:10119388:G:A 2,.,. -1 -1 -1 -1 -1 -1 GRIN2A 50_intron 41,.,. 1,.,. GRIN2A/intron/;GRIN2A/non_coding/ 1.0000 0.1847 0.2680 0 Landau-Kleffner syndrome 0.000 recessive HG002 HG002 chr16:10119391:T:TGATAAATAAATA 2,.,. -1 -1 -1 -1 -1 -1 GRIN2A 50_intron 41,.,. 1,.,. GRIN2A/intron/;GRIN2A/non_coding/ 1.0000 0.1847 0.2680 0 Landau-Kleffner syndrome 0.000 dominant HG002 HG002 chr16:10499087:TA:T 1,.,. -1 -1 -1 0.000700771 0 2 31,.,. 0.354839,.,. dominant HG002 HG002 chr16:10859404:G:GTGATGATGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGCGATGGTGGTGA 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr16:10859410:T:G 1,.,. -1 -1 -1 0.000700771 0 2 34,.,. 0.470588,.,. dominant HG002 HG002 chr16:10988730:C:T 1,.,. 1.31482e-05 0 2 -1 -1 -1 CLEC16A 50_intron 32,.,. 0.3125,.,. CLEC16A/intron/;CLEC16A/non_coding/ 0.0000 0.4981 0.6390 2 dominant HG002 HG002 chr16:11301558:C:CTAAA 1,.,. -1 -1 -1 -1 -1 -1 RMI2 50_intron 25,.,. 0.44,.,. RMI2/non_coding/;RMI2/intron/ 0.0000 1.6053 1.9440 9 recessive HG002 HG002 chr16:11448567:C:A 2,.,. 0.00888436 0 61 0.0189208 3 54 AC099489.1 50_intron 30,.,. 1,.,. AC099489.1/intron/ dominant HG002 HG002 chr16:11498497:T:TTAAATAAA 1,.,. -1 -1 -1 -1 -1 -1 AC099489.1 50_intron 24,.,. 0.375,.,. AC099489.1/intron/ dominant HG002 HG002 chr16:11911671:G:A 1,.,. 1.32998e-05 0 2 -1 -1 -1 GSPT1 50_intron 26,.,. 0.384615,.,. GSPT1/intron/ 0.9998 0.0857 0.2700 0 dominant HG002 HG002 chr16:12008012:C:T 1,.,. -1 -1 -1 -1 -1 -1 SNX29 50_intron 39,.,. 0.615385,.,. SNX29/intron/;SNX29/non_coding/ 0.0000 0.7827 0.9470 4 dominant HG002 HG002 chr16:12019587:T:TATAG 1,.,. 2.52118e-05 0 2 -1 -1 -1 SNX29 50_intron 42,.,. 0.52381,.,. SNX29/intron/;SNX29/non_coding/ 0.0000 0.7827 0.9470 4 dominant HG002 HG002 chr16:12091042:A:G 1,.,. -1 -1 -1 -1 -1 -1 SNX29 50_intron 24,.,. 0.625,.,. SNX29/intron/ 0.0000 0.7827 0.9470 4 dominant HG002 HG002 chr16:12233863:G:A 1,.,. 6.578e-06 0 1 -1 -1 -1 SNX29 50_intron 33,.,. 0.484848,.,. SNX29/intron/ 0.0000 0.7827 0.9470 4 dominant HG002 HG002 chr16:12557023:C:T 1,.,. 2.48135e-05 0 3 -1 -1 -1 SNX29 50_intron 22,.,. 0.545455,.,. SNX29/intron/ 0.0000 0.7827 0.9470 4 dominant HG002 HG002 chr16:12928330:G:GTGTGTA 1,.,. -1 -1 -1 -1 -1 -1 SHISA9 50_intron 42,.,. 0.5,.,. SHISA9/intron/ 0.7929 0.3608 0.5740 1 dominant HG002 HG002 chr16:13037095:CACACACACACACAG:C 1,.,. 0.000111365 0 4 -1 -1 -1 SHISA9 50_intron 31,.,. 0.419355,.,. SHISA9/intron/ 0.7929 0.3608 0.5740 1 dominant HG002 HG002 chr16:13332518:A:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.395349,.,. recessive HG002 HG002 chr16:13352697:TAAGGGGGG:T 2,.,. 1.55123e-05 0 2 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr16:13352712:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr16:13352713:C:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr16:13532242:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr16:13745844:T:C 1,.,. 2.63165e-05 0 4 0.000700771 0 2 32,.,. 0.5,.,. recessive HG002 HG002 chr16:13850582:C:A 2,.,. -1 -1 -1 0.00385424 2 11 28,.,. 1,.,. dominant HG002 HG002 chr16:14003636:GCCTGCCTCCCTC:G 1,.,. 3.16837e-05 0 1 -1 -1 -1 32,.,. 0.28125,.,. dominant HG002 HG002 chr16:14813980:G:A 1,.,. -1 -1 -1 0.000700771 0 2 40,.,. 0.4,.,. dominant HG002 HG002 chr16:14852620:G:T 1,.,. -1 -1 -1 0.000700771 0 2 NOMO1 50_intron 30,.,. 0.433333,.,. NOMO1/intron/;NOMO1/non_coding/ 0.1247 0.4180 0.5480 1 dominant HG002 HG002 chr16:15288565:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr16:15362672:T:C 1,.,. -1 -1 -1 0.00140154 0 4 AC137803.1 53_non_coding 34,.,. 0.5,.,. AC137803.1/non_coding/ recessive HG002 HG002 chr16:15824121:TTA:T 2,.,. -1 -1 -1 -1 -1 -1 MYH11 50_intron 30,.,. 1,.,. MYH11/intron/;MYH11/non_coding/ 1.0000 0.3125 0.3770 0 Aortic aneurysm, familial thoracic 4;Megacystis-microcolon-intestinal hypoperistalsis syndrome 2;Visceral myopathy 2 0.000 recessive HG002 HG002 chr16:15824125:C:A 2,.,. -1 -1 -1 -1 -1 -1 MYH11 50_intron 30,.,. 1,.,. MYH11/intron/;MYH11/non_coding/ 1.0000 0.3125 0.3770 0 Aortic aneurysm, familial thoracic 4;Megacystis-microcolon-intestinal hypoperistalsis syndrome 2;Visceral myopathy 2 0.000 dominant HG002 HG002 chr16:16264792:C:A 1,.,. -1 -1 -1 -1 -1 -1 NOMO3 50_intron 30,.,. 0.533333,.,. NOMO3/intron/ 0.8651 0.3367 0.5710 1 dominant HG002 HG002 chr16:16264793:T:G 1,.,. -1 -1 -1 -1 -1 -1 NOMO3 50_intron 30,.,. 0.533333,.,. NOMO3/intron/ 0.8651 0.3367 0.5710 1 dominant HG002 HG002 chr16:16264794:G:T 1,.,. -1 -1 -1 -1 -1 -1 NOMO3 50_intron 30,.,. 0.533333,.,. NOMO3/intron/ 0.8651 0.3367 0.5710 1 dominant HG002 HG002 chr16:16264795:C:G 1,.,. -1 -1 -1 -1 -1 -1 NOMO3 50_intron 30,.,. 0.533333,.,. NOMO3/intron/ 0.8651 0.3367 0.5710 1 dominant HG002 HG002 chr16:16419414:C:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr16:16421817:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr16:16590627:A:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr16:16779278:A:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr16:17671936:T:TAATG 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr16:17869925:C:CTACAGTGT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr16:17869928:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr16:18014715:T:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr16:18212312:A:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.59375,.,. dominant HG002 HG002 chr16:18547795:C:T 1,.,. -1 -1 -1 -1 -1 -1 NOMO2 50_intron 40,.,. 0.575,.,. NOMO2/intron/ 0.8485 0.3494 0.5660 1 recessive HG002 HG002 chr16:18716683:G:T 2,.,. 0.000166945 2 11 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr16:18737324:GTTTTGTTTT:G 2,.,. 9.4304e-06 0 1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr16:18737334:T:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. dominant HG002 HG002 chr16:18739886:G:T 1,.,. -1 -1 -1 0.00105116 0 3 21,.,. 0.571429,.,. recessive HG002 HG002 chr16:18854002:ATAGGAGG:A 2,.,. -1 -1 -1 -1 -1 -1 SMG1 50_intron 47,.,. 1,.,. SMG1/intron/ 1.0000 0.0696 0.1000 0 recessive HG002 HG002 chr16:18854010:C:A 2,.,. -1 -1 -1 -1 -1 -1 SMG1 50_intron 46,.,. 1,.,. SMG1/intron/ 1.0000 0.0696 0.1000 0 dominant HG002 HG002 chr16:18929086:CTCGGCTCACTGCAA:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.594595,.,. dominant HG002 HG002 chr16:18929101:G:C 1,.,. 8.16727e-06 0 1 -1 -1 -1 37,.,. 0.594595,.,. dominant HG002 HG002 chr16:19125049:G:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.518519,.,. recessive HG002 HG002 chr16:19252375:A:C 2,.,. -1 -1 -1 -1 -1 -1 SYT17 50_intron 18,.,. 1,.,. SYT17/intron/ 0.0163 0.4655 0.6650 2 recessive HG002 HG002 chr16:19252394:C:T 2,.,. -1 -1 -1 0.00315347 4 9 SYT17 50_intron 16,.,. 1,.,. SYT17/intron/ 0.0163 0.4655 0.6650 2 recessive HG002 HG002 chr16:19252412:T:G 2,.,. -1 -1 -1 -1 -1 -1 SYT17 50_intron 18,.,. 1,.,. SYT17/intron/ 0.0163 0.4655 0.6650 2 dominant HG002 HG002 chr16:19329143:A:ACCCT 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.323529,.,. dominant HG002 HG002 chr16:19363656:C:A 1,.,. 5.71347e-05 0 4 -1 -1 -1 28,.,. 0.428571,.,. dominant HG002 HG002 chr16:19900110:T:A 1,.,. 6.57056e-06 0 1 -1 -1 -1 32,.,. 0.5625,.,. dominant HG002 HG002 chr16:20041266:A:G 1,.,. 8.92395e-06 0 1 0.000700771 0 2 GPR139 50_intron 20,.,. 0.5,.,. GPR139/intron/ 0.1101 0.4492 0.7280 2 recessive HG002 HG002 chr16:20225645:GTTGAAC:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr16:20225652:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr16:20283359:A:T 2,.,. 0.00024266 0 2 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr16:20345480:T:TTCCC 1,.,. -1 -1 -1 0.00140154 0 4 UMOD 50_intron 34,.,. 0.411765,.,. UMOD/intron/ 0.0000 1.0091 1.2410 7 Familial juvenile hyperuricemic nephropathy type 1 0.000 dominant HG002 HG002 chr16:20381696:C:A 1,.,. -1 -1 -1 -1 -1 -1 PDILT 50_intron 20,.,. 0.55,.,. PDILT/intron/ 0.0000 0.7690 0.9920 5 dominant HG002 HG002 chr16:20492324:C:T 1,.,. -1 -1 -1 0.000700771 0 2 20,.,. 0.6,.,. dominant HG002 HG002 chr16:20577566:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr16:20680597:T:C 1,.,. 6.57151e-06 0 1 -1 -1 -1 ACSM3;ACSM1 50_intron 40,.,. 0.425,.,. ACSM3/intron/;ACSM1/intron/;ACSM3/non_coding/ 0.0000;;0.0000 0.8011;;1.0287 0.9990;;1.2480 5;;7 dominant HG002 HG002 chr16:20847274:A:C 1,.,. 9.02039e-05 0 2 -1 -1 -1 ERI2;REXO5 50_intron 54,.,. 0.518519,.,. ERI2/intron/;REXO5/intron/ 0.0000;;0.0003 0.7460;;0.5077 0.9810;;0.6850 4;;2 dominant HG002 HG002 chr16:20884189:G:A 1,.,. -1 -1 -1 -1 -1 -1 ERI2 50_intron 40,.,. 0.5,.,. ERI2/intron/ 0.0000 0.7460 0.9810 4 dominant HG002 HG002 chr16:21082841:AAT:A 1,.,. -1 -1 -1 -1 -1 -1 DNAH3 50_intron 30,.,. 0.333333,.,. DNAH3/intron/ 0.0000 0.7592 0.8340 3 dominant HG002 HG002 chr16:21281128:CTCTCTCTG:C 1,.,. -1 -1 -1 -1 -1 -1 CRYM 50_intron 36,.,. 0.444444,.,. CRYM/intron/;CRYM/non_coding/ 0.0016 0.5605 0.8410 3 Autosomal dominant nonsyndromic hearing loss 40 0.000 dominant HG002 HG002 chr16:21281138:A:G 1,.,. -1 -1 -1 -1 -1 -1 CRYM 50_intron 36,.,. 0.444444,.,. CRYM/intron/;CRYM/non_coding/ 0.0016 0.5605 0.8410 3 Autosomal dominant nonsyndromic hearing loss 40 0.000 recessive HG002 HG002 chr16:21404507:A:G 2,.,. -1 -1 -1 0.00455501 0 13 NPIPB3 50_intron 27,.,. 1,.,. NPIPB3/intron/ 0.3550 0.0000 1.8190 9 dominant HG002 HG002 chr16:21464836:T:G 1,.,. -1 -1 -1 -1 -1 -1 SMG1P3 53_non_coding 53,.,. 0.320755,.,. SMG1P3/non_coding/ dominant HG002 HG002 chr16:22897930:G:A 1,.,. -1 -1 -1 -1 -1 -1 HS3ST2 50_intron 41,.,. 0.390244,.,. HS3ST2/intron/ 0.0001 0.6465 0.9590 4 dominant HG002 HG002 chr16:23024621:ATTGTAG:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr16:23024630:T:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr16:23671302:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 DCTN5 36_3_prime_utr 36,.,. 0.527778,.,. DCTN5/3_prime_utr/ENST00000300087 0.0271 0.5302 0.8990 4 dominant HG002 HG002 chr16:23671305:T:A 1,.,. -1 -1 -1 -1 -1 -1 DCTN5 36_3_prime_utr 36,.,. 0.527778,.,. DCTN5/3_prime_utr/ENST00000300087 0.0271 0.5302 0.8990 4 dominant HG002 HG002 chr16:23744907:G:T 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.347826,.,. dominant HG002 HG002 chr16:23847434:GTCCA:G 1,.,. -1 -1 -1 -1 -1 -1 PRKCB 50_intron 34,.,. 0.617647,.,. PRKCB/intron/;PRKCB/non_coding/ 1.0000 0.1486 0.2410 0 dominant HG002 HG002 chr16:23847540:T:TCATC 1,.,. -1 -1 -1 -1 -1 -1 PRKCB 50_intron 33,.,. 0.606061,.,. PRKCB/intron/;PRKCB/non_coding/ 1.0000 0.1486 0.2410 0 dominant HG002 HG002 chr16:23875480:GATATATAT:G 1,.,. 0.000215146 0 1 -1 -1 -1 PRKCB 50_intron 31,.,. 0.516129,.,. PRKCB/intron/;PRKCB/non_coding/ 1.0000 0.1486 0.2410 0 dominant HG002 HG002 chr16:24168540:A:T 1,.,. -1 -1 -1 -1 -1 -1 PRKCB 50_intron 34,.,. 0.352941,.,. PRKCB/intron/ 1.0000 0.1486 0.2410 0 dominant HG002 HG002 chr16:24444245:G:T 1,.,. 1.03993e-05 0 1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr16:24444248:G:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. recessive HG002 HG002 chr16:24576246:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr16:24576247:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr16:24576248:G:GATTTTAAGTGGT 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr16:24576249:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr16:24576250:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr16:24587042:C:CGTGCCA 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr16:24587043:A:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr16:24841327:G:A 2,.,. 0.000387224 0 58 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr16:25020129:G:A 1,.,. -1 -1 -1 -1 -1 -1 AC133552.1 53_non_coding 35,.,. 0.457143,.,. AC133552.1/non_coding/ dominant HG002 HG002 chr16:25073666:T:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.484848,.,. recessive HG002 HG002 chr16:25355123:G:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr16:25523199:T:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.64,.,. dominant HG002 HG002 chr16:25756142:ACACACACACACG:A 1,.,. 4.36729e-05 0 4 -1 -1 -1 HS3ST4 50_intron 37,.,. 0.432432,.,. HS3ST4/intron/ 0.0000 0.7567 1.1350 6 dominant HG002 HG002 chr16:25873413:T:C 1,.,. -1 -1 -1 -1 -1 -1 HS3ST4 50_intron 31,.,. 0.580645,.,. HS3ST4/intron/ 0.0000 0.7567 1.1350 6 dominant HG002 HG002 chr16:25999884:A:ATATATATATTATATATTTTATATATAT 1,.,. -1 -1 -1 -1 -1 -1 HS3ST4 50_intron 31,.,. 0.419355,.,. HS3ST4/intron/;HS3ST4/non_coding/ 0.0000 0.7567 1.1350 6 recessive HG002 HG002 chr16:26348626:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr16:26431013:TTTTGTTCTG:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. dominant HG002 HG002 chr16:26431024:T:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.521739,.,. recessive HG002 HG002 chr16:26434233:G:T 2,.,. -1 -1 -1 0.0206727 4 59 49,.,. 1,.,. dominant HG002 HG002 chr16:26459321:A:G 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.436364,.,. recessive HG002 HG002 chr16:26741556:C:T 2,.,. -1 -1 -1 0.00946041 3 27 31,.,. 1,.,. dominant HG002 HG002 chr16:26830085:T:TTC 1,.,. 1.84959e-05 0 1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr16:26899544:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.519231,.,. dominant HG002 HG002 chr16:26957859:T:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.46875,.,. recessive HG002 HG002 chr16:27038922:C:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr16:27064034:A:G 1,.,. 1.08644e-05 0 1 -1 -1 -1 26,.,. 0.461538,.,. recessive HG002 HG002 chr16:27125404:CTGG:C 2,.,. 0.00505614 4 770 0.00385424 0 11 36,.,. 1,.,. recessive HG002 HG002 chr16:27150166:TGAAACTGAG:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr16:27150176:A:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr16:27915094:C:A 1,.,. 1.97493e-05 0 3 -1 -1 -1 GSG1L 50_intron 32,.,. 0.46875,.,. GSG1L/intron/ 0.0000 0.8051 1.1320 6 dominant HG002 HG002 chr16:28089243:C:A 1,.,. -1 -1 -1 0.000700771 0 2 29,.,. 0.62069,.,. dominant HG002 HG002 chr16:28345761:T:G 1,.,. -1 -1 -1 0.00105116 0 3 NPIPB6 50_intron 25,.,. 0.72,.,. NPIPB6/intron/ 0.7396 0.2359 0.7430 3 dominant HG002 HG002 chr16:28346782:G:C 1,.,. -1 -1 -1 -1 -1 -1 NPIPB6 50_intron 25,.,. 0.28,.,. NPIPB6/intron/ 0.7396 0.2359 0.7430 3 dominant HG002 HG002 chr16:28347420:G:A 1,.,. -1 -1 -1 -1 -1 -1 NPIPB6 50_intron 25,.,. 0.28,.,. NPIPB6/intron/ 0.7396 0.2359 0.7430 3 recessive HG002 HG002 chr16:28454750:GTGAGA:G 2,.,. -1 -1 -1 -1 -1 -1 AC138894.4 53_non_coding 20,.,. 1,.,. AC138894.4/non_coding/ recessive HG002 HG002 chr16:28454756:C:A 2,.,. 0.000110288 1 5 -1 -1 -1 AC138894.4 53_non_coding 20,.,. 1,.,. AC138894.4/non_coding/ dominant HG002 HG002 chr16:28644478:C:G 1,.,. 9.42818e-05 0 4 -1 -1 -1 NPIPB8 50_intron 29,.,. 0.517241,.,. NPIPB8/intron/ 0.0421 0.9888 1.8530 9 dominant HG002 HG002 chr16:28892443:TGTAA:T 1,.,. -1 -1 -1 -1 -1 -1 ATP2A1 36_3_prime_utr 24,.,. 0.458333,.,. ATP2A1/3_prime_utr&NMD_transcript/ENST00000564470 0.0000 0.7339 0.8810 4 Brody myopathy 0.000 dominant HG002 HG002 chr16:28892448:C:A 1,.,. 1.21004e-05 0 1 -1 -1 -1 ATP2A1 36_3_prime_utr 24,.,. 0.458333,.,. ATP2A1/3_prime_utr&NMD_transcript/ENST00000564470 0.0000 0.7339 0.8810 4 Brody myopathy 0.000 dominant HG002 HG002 chr16:29036864:T:C 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.363636,.,. dominant HG002 HG002 chr16:29054155:A:C 1,.,. -1 -1 -1 -1 -1 -1 AC009093.3 53_non_coding 26,.,. 0.538462,.,. AC009093.3/non_coding/ dominant HG002 HG002 chr16:29219338:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.675676,.,. dominant HG002 HG002 chr16:29397795:G:A 1,.,. -1 -1 -1 0.00140154 0 4 NPIPB11 50_intron 34,.,. 0.617647,.,. NPIPB11/intron/ 0.0062 0.6639 1.1580 6 dominant HG002 HG002 chr16:29403541:C:T 1,.,. -1 -1 -1 0.00140154 0 4 NPIPB11 50_intron 36,.,. 0.583333,.,. NPIPB11/intron/ 0.0062 0.6639 1.1580 6 dominant HG002 HG002 chr16:29589514:T:G 1,.,. -1 -1 -1 -1 -1 -1 SMG1P2 53_non_coding 35,.,. 0.4,.,. SMG1P2/non_coding/ dominant HG002 HG002 chr16:29589517:A:T 1,.,. -1 -1 -1 -1 -1 -1 SMG1P2 53_non_coding 35,.,. 0.4,.,. SMG1P2/non_coding/ dominant HG002 HG002 chr16:29589522:G:A 1,.,. -1 -1 -1 -1 -1 -1 SMG1P2 53_non_coding 35,.,. 0.4,.,. SMG1P2/non_coding/ dominant HG002 HG002 chr16:29589570:T:C 1,.,. 1.99121e-05 0 3 -1 -1 -1 SMG1P2 53_non_coding 35,.,. 0.4,.,. SMG1P2/non_coding/ dominant HG002 HG002 chr16:29589607:CAACA:C 1,.,. 6.59918e-06 0 1 -1 -1 -1 SMG1P2 53_non_coding 35,.,. 0.4,.,. SMG1P2/non_coding/ dominant HG002 HG002 chr16:29589695:A:G 1,.,. -1 -1 -1 -1 -1 -1 SMG1P2 53_non_coding 34,.,. 0.382353,.,. SMG1P2/non_coding/ dominant HG002 HG002 chr16:29589698:A:G 1,.,. -1 -1 -1 -1 -1 -1 SMG1P2 53_non_coding 35,.,. 0.4,.,. SMG1P2/non_coding/ dominant HG002 HG002 chr16:29589783:A:C 1,.,. 1.32324e-05 0 2 -1 -1 -1 SMG1P2 53_non_coding 35,.,. 0.4,.,. SMG1P2/non_coding/ dominant HG002 HG002 chr16:29589792:A:G 1,.,. -1 -1 -1 -1 -1 -1 SMG1P2 53_non_coding 35,.,. 0.4,.,. SMG1P2/non_coding/ dominant HG002 HG002 chr16:29589799:T:C 1,.,. -1 -1 -1 -1 -1 -1 SMG1P2 53_non_coding 35,.,. 0.4,.,. SMG1P2/non_coding/ dominant HG002 HG002 chr16:29589803:T:C 1,.,. -1 -1 -1 -1 -1 -1 SMG1P2 53_non_coding 35,.,. 0.4,.,. SMG1P2/non_coding/ dominant HG002 HG002 chr16:29589832:A:G 1,.,. -1 -1 -1 -1 -1 -1 SMG1P2 53_non_coding 35,.,. 0.4,.,. SMG1P2/non_coding/ dominant HG002 HG002 chr16:30691593:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.3125,.,. dominant HG002 HG002 chr16:31103583:C:CTCTCCGTCTCCG 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.409091,.,. dominant HG002 HG002 chr16:31180630:T:C 1,.,. 1.31534e-05 0 2 -1 -1 -1 FUS 50_intron 31,.,. 0.483871,.,. FUS/intron/;FUS/non_coding/ 1.0000 0.0401 0.1040 0 Tremor, hereditary essential, 4;Amyotrophic lateral sclerosis type 6 0.000 dominant HG002 HG002 chr16:31183298:CA:C 1,.,. -1 -1 -1 -1 -1 -1 FUS 50_intron 29,.,. 0.413793,.,. FUS/intron/;FUS/non_coding/ 1.0000 0.0401 0.1040 0 Tremor, hereditary essential, 4;Amyotrophic lateral sclerosis type 6 0.000 recessive HG002 HG002 chr16:31258718:A:C 2,.,. 0.000289712 1 41 0.00280308 0 8 30,.,. 1,.,. dominant HG002 HG002 chr16:31334457:T:C 1,.,. 4.77384e-05 1 4 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr16:31342271:T:C 1,.,. 1.97156e-05 0 3 0.000700771 0 2 37,.,. 0.405405,.,. dominant HG002 HG002 chr16:31693839:C:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr16:32070704:G:T 1,.,. -1 -1 -1 0.000700771 0 2 AC142381.4 53_non_coding 40,.,. 0.575,.,. AC142381.4/non_coding/ dominant HG002 HG002 chr16:32880194:C:T 1,.,. -1 -1 -1 -1 -1 -1 SLC6A10P 53_non_coding 27,.,. 0.518519,.,. SLC6A10P/non_coding/ dominant HG002 HG002 chr16:32932505:C:T 1,.,. -1 -1 -1 -1 -1 -1 AC142086.6;AC142086.3 53_non_coding 26,.,. 0.615385,.,. AC142086.6/non_coding/;AC142086.3/non_coding/ dominant HG002 HG002 chr16:32941750:C:G 1,.,. -1 -1 -1 -1 -1 -1 AC142086.6 53_non_coding 30,.,. 0.633333,.,. AC142086.6/non_coding/ dominant HG002 HG002 chr16:33732213:G:C 1,.,. -1 -1 -1 -1 -1 -1 AC136428.4 53_non_coding 55,.,. 0.363636,.,. AC136428.4/non_coding/ dominant HG002 HG002 chr16:33735140:A:G 1,.,. -1 -1 -1 -1 -1 -1 AC136428.4 53_non_coding 52,.,. 0.634615,.,. AC136428.4/non_coding/ dominant HG002 HG002 chr16:34574385:C:A 1,.,. 6.8093e-06 0 1 -1 -1 -1 27,.,. 0.37037,.,. recessive HG002 HG002 chr16:34575244:G:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chr16:34698267:C:A 1,.,. 1.32712e-05 0 2 -1 -1 -1 36,.,. 0.555556,.,. recessive HG002 HG002 chr16:34911414:A:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr16:34911422:T:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr16:34911830:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr16:34911832:G:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr16:34912031:A:ATGT 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr16:34912098:C:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr16:34912110:C:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr16:34912111:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr16:34912115:A:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr16:34913160:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr16:34913161:T:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr16:34913172:C:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr16:35155945:C:T 1,.,. 6.58423e-06 0 1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr16:35602507:T:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. recessive HG002 HG002 chr16:36743545:T:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr16:36745334:C:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr16:36745709:T:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr16:36746161:C:T 2,.,. -1 -1 -1 0.0024527 3 7 12,.,. 1,.,. recessive HG002 HG002 chr16:36747304:T:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr16:37012740:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr16:37012744:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr16:37719869:T:A 2,.,. -1 -1 -1 0.0276804 3 79 23,.,. 1,.,. recessive HG002 HG002 chr16:37789933:C:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr16:37789995:T:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr16:37789997:C:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr16:38047527:G:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr16:38120948:C:G 2,.,. -1 -1 -1 0.00280308 3 8 6,.,. 1,.,. recessive HG002 HG002 chr16:38121020:G:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr16:38121378:G:T 2,.,. -1 -1 -1 0.00140154 2 4 6,.,. 1,.,. recessive HG002 HG002 chr16:38121921:T:C 2,.,. -1 -1 -1 0.00140154 1 4 6,.,. 1,.,. recessive HG002 HG002 chr16:38122020:G:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr16:38122021:T:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr16:38122370:C:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr16:38122391:T:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr16:38122708:G:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr16:38122744:G:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr16:38122751:G:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr16:38123334:C:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr16:38123429:A:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr16:38123431:G:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr16:38123516:G:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr16:38123534:T:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr16:38123847:A:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. dominant HG002 HG002 chr16:46531201:G:A 1,.,. -1 -1 -1 -1 -1 -1 ANKRD26P1 53_non_coding 39,.,. 0.410256,.,. ANKRD26P1/non_coding/ dominant HG002 HG002 chr16:46742445:A:AACAC 1,.,. -1 -1 -1 -1 -1 -1 MYLK3 50_intron 20,.,. 0.55,.,. MYLK3/intron/;MYLK3/non_coding/ 0.0000 0.7572 0.9500 4 recessive HG002 HG002 chr16:47166768:C:CAA 2,.,. -1 -1 -1 -1 -1 -1 ITFG1 50_intron 56,.,. 1,.,. ITFG1/non_coding/;ITFG1/intron/ 0.8536 0.2707 0.6190 2 recessive HG002 HG002 chr16:47166770:C:T 2,.,. -1 -1 -1 -1 -1 -1 ITFG1 50_intron 56,.,. 1,.,. ITFG1/non_coding/;ITFG1/intron/ 0.8536 0.2707 0.6190 2 recessive HG002 HG002 chr16:47166772:C:A 2,.,. -1 -1 -1 -1 -1 -1 ITFG1 50_intron 56,.,. 1,.,. ITFG1/non_coding/;ITFG1/intron/ 0.8536 0.2707 0.6190 2 recessive HG002 HG002 chr16:47166774:A:T 2,.,. -1 -1 -1 -1 -1 -1 ITFG1 50_intron 56,.,. 1,.,. ITFG1/non_coding/;ITFG1/intron/ 0.8536 0.2707 0.6190 2 dominant HG002 HG002 chr16:47183596:C:T 1,.,. -1 -1 -1 -1 -1 -1 ITFG1 50_intron 24,.,. 0.416667,.,. ITFG1/non_coding/;ITFG1/intron/ 0.8536 0.2707 0.6190 2 dominant HG002 HG002 chr16:47187472:T:C 1,.,. 6.57358e-06 0 1 -1 -1 -1 ITFG1 50_intron 26,.,. 0.423077,.,. ITFG1/non_coding/;ITFG1/intron/ 0.8536 0.2707 0.6190 2 dominant HG002 HG002 chr16:48226066:C:T 1,.,. -1 -1 -1 -1 -1 -1 ABCC11 50_intron 45,.,. 0.377778,.,. ABCC11/intron/;ABCC11/non_coding/ 0.0000 0.8679 1.0040 5 APOCRINE GLAND SECRETION, VARIATION IN dominant HG002 HG002 chr16:48539912:G:A 1,.,. 6.5684e-06 0 1 -1 -1 -1 N4BP1 36_3_prime_utr 24,.,. 0.375,.,. N4BP1/3_prime_utr/ENST00000262384 0.9975 0.3124 0.4630 1 dominant HG002 HG002 chr16:48768480:T:G 1,.,. 3.00312e-05 0 3 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr16:49311369:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr16:49370674:A:T 1,.,. 6.59883e-06 0 1 -1 -1 -1 23,.,. 0.434783,.,. dominant HG002 HG002 chr16:49449551:C:CAT 1,.,. 1.75187e-05 0 1 -1 -1 -1 34,.,. 0.441176,.,. recessive HG002 HG002 chr16:49649667:A:G 2,.,. -1 -1 -1 -1 -1 -1 ZNF423 50_intron 26,.,. 1,.,. ZNF423/intron/ 1.0000 0.1210 0.1960 0 Nephronophthisis 14 0.000 dominant HG002 HG002 chr16:49697329:C:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF423 50_intron 25,.,. 0.44,.,. ZNF423/intron/ 1.0000 0.1210 0.1960 0 Nephronophthisis 14 0.000 dominant HG002 HG002 chr16:50351860:G:T 1,.,. -1 -1 -1 -1 -1 -1 BRD7 50_intron 42,.,. 0.52381,.,. BRD7/intron/;BRD7/non_coding/ 1.0000 0.2150 0.3360 0 dominant HG002 HG002 chr16:50359199:G:A 1,.,. -1 -1 -1 -1 -1 -1 BRD7 50_intron 34,.,. 0.411765,.,. BRD7/intron/;BRD7/non_coding/ 1.0000 0.2150 0.3360 0 dominant HG002 HG002 chr16:50865322:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr16:51178061:C:T 1,.,. 1.31434e-05 0 2 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr16:51665908:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr16:52114288:A:G 1,.,. 6.56987e-06 0 1 -1 -1 -1 43,.,. 0.511628,.,. dominant HG002 HG002 chr16:52220821:T:TTTTCTTTCTTTC 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.305556,.,. recessive HG002 HG002 chr16:52615394:AGCGT:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr16:52615400:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr16:53839804:TTTATTTATTTA:T 1,.,. -1 -1 -1 -1 -1 -1 FTO 50_intron 38,.,. 0.447368,.,. FTO/intron/;FTO/non_coding/ 0.0000 0.7142 0.9240 4 Lethal polymalformative syndrome, Boissel type;Body mass index quantitative trait locus 14 0.000 dominant HG002 HG002 chr16:53843819:T:A 1,.,. 1.97246e-05 0 1 -1 -1 -1 FTO 50_intron 42,.,. 0.47619,.,. FTO/intron/;FTO/non_coding/ 0.0000 0.7142 0.9240 4 Lethal polymalformative syndrome, Boissel type;Body mass index quantitative trait locus 14 0.000 dominant HG002 HG002 chr16:53944409:TG:T 1,.,. 1.97068e-05 0 3 -1 -1 -1 FTO 50_intron 32,.,. 0.375,.,. FTO/intron/;FTO/non_coding/ 0.0000 0.7142 0.9240 4 Lethal polymalformative syndrome, Boissel type;Body mass index quantitative trait locus 14 0.000 dominant HG002 HG002 chr16:54016302:A:C 1,.,. 2.52678e-05 0 1 -1 -1 -1 FTO 50_intron 48,.,. 0.5,.,. FTO/intron/;FTO/non_coding/ 0.0000 0.7142 0.9240 4 Lethal polymalformative syndrome, Boissel type;Body mass index quantitative trait locus 14 0.000 dominant HG002 HG002 chr16:54016307:A:C 1,.,. 6.6255e-06 0 1 -1 -1 -1 FTO 50_intron 49,.,. 0.510204,.,. FTO/intron/;FTO/non_coding/ 0.0000 0.7142 0.9240 4 Lethal polymalformative syndrome, Boissel type;Body mass index quantitative trait locus 14 0.000 dominant HG002 HG002 chr16:54059902:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 FTO 50_intron 34,.,. 0.441176,.,. FTO/intron/;FTO/non_coding/ 0.0000 0.7142 0.9240 4 Lethal polymalformative syndrome, Boissel type;Body mass index quantitative trait locus 14 0.000 dominant HG002 HG002 chr16:54307332:TAGAC:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr16:54307337:T:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr16:54342648:G:A 1,.,. 1.31446e-05 0 2 -1 -1 -1 24,.,. 0.291667,.,. dominant HG002 HG002 chr16:54664708:C:A 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.591837,.,. dominant HG002 HG002 chr16:54686091:TCCCCTCC:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr16:54817703:GGAGGTGT:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.366667,.,. dominant HG002 HG002 chr16:54817713:A:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.366667,.,. dominant HG002 HG002 chr16:54817714:T:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.366667,.,. dominant HG002 HG002 chr16:54896090:A:AGTTTATTTATTT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr16:54942658:C:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.625,.,. dominant HG002 HG002 chr16:55049322:G:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr16:55340808:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.333333,.,. recessive HG002 HG002 chr16:55580836:A:ATTCTCATAG 2,.,. -1 -1 -1 -1 -1 -1 LPCAT2 50_intron 49,.,. 1,.,. LPCAT2/intron/;LPCAT2/non_coding/ 0.0000 0.9066 1.1880 6 recessive HG002 HG002 chr16:55580838:G:T 2,.,. -1 -1 -1 -1 -1 -1 LPCAT2 50_intron 49,.,. 1,.,. LPCAT2/intron/;LPCAT2/non_coding/ 0.0000 0.9066 1.1880 6 dominant HG002 HG002 chr16:55774413:CAG:C 1,.,. 2.06577e-05 0 3 -1 -1 -1 CES1P1 53_non_coding 34,.,. 0.470588,.,. CES1P1/non_coding/ recessive HG002 HG002 chr16:56000337:C:CTGTTA 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr16:56000339:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. dominant HG002 HG002 chr16:56208449:G:A 1,.,. -1 -1 -1 -1 -1 -1 GNAO1 50_intron 42,.,. 0.404762,.,. GNAO1/intron/;GNAO1/non_coding/ 1.0000 0.0000 0.1050 0 Developmental and epileptic encephalopathy, 17;Neurodevelopmental disorder with involuntary movements 0.000 dominant HG002 HG002 chr16:56374410:A:AAAAACAAAACAAAAC 1,.,. -1 -1 -1 -1 -1 -1 AMFR 50_intron 38,.,. 0.394737,.,. AMFR/intron/;AMFR/non_coding/ 0.0006 0.4793 0.6330 2 Spastic paraplegia 89, autosomal recessive dominant HG002 HG002 chr16:56598035:G:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr16:56808304:A:T 1,.,. -1 -1 -1 -1 -1 -1 NUP93 50_intron 42,.,. 0.404762,.,. NUP93/intron/;NUP93/non_coding/ 0.0000 0.5274 0.6730 2 Nephrotic syndrome, type 12 0.000 dominant HG002 HG002 chr16:56875134:CCCGCGCG:C 1,.,. -1 -1 -1 -1 -1 -1 SLC12A3 50_intron 20,.,. 0.75,.,. SLC12A3/intron/ 0.0000 0.8480 1.0040 5 Familial hypokalemia-hypomagnesemia 0.000 dominant HG002 HG002 chr16:56875142:C:G 1,.,. -1 -1 -1 -1 -1 -1 SLC12A3 50_intron 21,.,. 0.714286,.,. SLC12A3/intron/ 0.0000 0.8480 1.0040 5 Familial hypokalemia-hypomagnesemia 0.000 dominant HG002 HG002 chr16:56893967:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 SLC12A3 50_intron 28,.,. 0.535714,.,. SLC12A3/intron/ 0.0000 0.8480 1.0040 5 Familial hypokalemia-hypomagnesemia 0.000 dominant HG002 HG002 chr16:56893970:A:T 1,.,. 1.15974e-05 0 1 -1 -1 -1 SLC12A3 50_intron 27,.,. 0.592593,.,. SLC12A3/intron/ 0.0000 0.8480 1.0040 5 Familial hypokalemia-hypomagnesemia 0.000 dominant HG002 HG002 chr16:56893971:T:A 1,.,. -1 -1 -1 -1 -1 -1 SLC12A3 50_intron 28,.,. 0.571429,.,. SLC12A3/intron/ 0.0000 0.8480 1.0040 5 Familial hypokalemia-hypomagnesemia 0.000 dominant HG002 HG002 chr16:56995607:A:ACCCT 1,.,. -1 -1 -1 -1 -1 -1 NLRC5 50_intron 29,.,. 0.448276,.,. NLRC5/intron/;NLRC5/non_coding/ 0.0000 0.5564 0.6510 2 dominant HG002 HG002 chr16:57010906:A:T 1,.,. 2.12407e-05 0 3 -1 -1 -1 NLRC5 50_intron 35,.,. 0.342857,.,. NLRC5/intron/;NLRC5/non_coding/ 0.0000 0.5564 0.6510 2 dominant HG002 HG002 chr16:57196032:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 RSPRY1 50_intron 35,.,. 0.4,.,. RSPRY1/intron/;RSPRY1/non_coding/ 0.9977 0.2624 0.4450 1 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome 0.000 dominant HG002 HG002 chr16:57295981:G:GTTATTAAATA 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr16:57295983:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr16:57295984:T:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr16:57295985:T:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr16:57823759:C:CTGTGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 KIFC3 50_intron 37,.,. 0.378378,.,. KIFC3/intron/ 0.0000 0.6405 0.7960 3 dominant HG002 HG002 chr16:58607735:AAAAGAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 CNOT1 50_intron 32,.,. 0.5,.,. CNOT1/intron/;CNOT1/non_coding/ 1.0000 0.0376 0.0640 0 Vissers-Bodmer syndrome;Holoprosencephaly 12 with or without pancreatic agenesis 0.000 dominant HG002 HG002 chr16:58758228:A:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.3,.,. dominant HG002 HG002 chr16:58843804:C:T 1,.,. 9.90138e-06 0 1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr16:58868055:TCCATA:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr16:58868062:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chr16:58884693:T:TAG 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.342105,.,. dominant HG002 HG002 chr16:58887298:A:AGTTAG 1,.,. 2.39257e-05 0 2 -1 -1 -1 48,.,. 0.416667,.,. dominant HG002 HG002 chr16:58887301:G:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.444444,.,. dominant HG002 HG002 chr16:59050301:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.613636,.,. dominant HG002 HG002 chr16:59590291:C:CACACAG 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.456522,.,. dominant HG002 HG002 chr16:59701165:C:CTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. recessive HG002 HG002 chr16:59702597:A:G 2,.,. 8.88573e-05 0 1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr16:59702598:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr16:59702599:A:AAGGT 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr16:60171603:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr16:60290973:T:A 1,.,. 6.71051e-06 0 1 -1 -1 -1 47,.,. 0.489362,.,. dominant HG002 HG002 chr16:60884407:T:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr16:61170551:T:C 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.254902,.,. recessive HG002 HG002 chr16:61425630:T:TCTTG 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chr16:61632487:AAG:A 1,.,. 9.02185e-06 0 1 -1 -1 -1 54,.,. 0.37037,.,. dominant HG002 HG002 chr16:61634126:TTG:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr16:61634129:T:G 1,.,. 1.81884e-05 0 1 -1 -1 -1 50,.,. 0.44,.,. dominant HG002 HG002 chr16:61680542:CAGGGGG:C 1,.,. -1 -1 -1 -1 -1 -1 CDH8 50_intron 48,.,. 0.5,.,. CDH8/intron/;CDH8/non_coding/ 1.0000 0.2431 0.3690 0 dominant HG002 HG002 chr16:61680550:C:T 1,.,. -1 -1 -1 -1 -1 -1 CDH8 50_intron 48,.,. 0.5,.,. CDH8/intron/;CDH8/non_coding/ 1.0000 0.2431 0.3690 0 dominant HG002 HG002 chr16:61680552:T:A 1,.,. -1 -1 -1 -1 -1 -1 CDH8 50_intron 47,.,. 0.510638,.,. CDH8/intron/;CDH8/non_coding/ 1.0000 0.2431 0.3690 0 dominant HG002 HG002 chr16:61680553:G:T 1,.,. -1 -1 -1 -1 -1 -1 CDH8 50_intron 48,.,. 0.5,.,. CDH8/intron/;CDH8/non_coding/ 1.0000 0.2431 0.3690 0 dominant HG002 HG002 chr16:61680554:A:T 1,.,. -1 -1 -1 -1 -1 -1 CDH8 50_intron 48,.,. 0.5,.,. CDH8/intron/;CDH8/non_coding/ 1.0000 0.2431 0.3690 0 dominant HG002 HG002 chr16:62403184:T:C 1,.,. 6.57601e-06 0 1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr16:62445407:C:T 1,.,. 2.62936e-05 0 4 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr16:62981480:T:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr16:63215792:T:TTTCCTTCC 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.44186,.,. dominant HG002 HG002 chr16:64577429:CTACAGGGT:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.4,.,. dominant HG002 HG002 chr16:64577438:T:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr16:64662480:C:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr16:64931337:CCACGTA:C 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr16:64931348:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr16:64931350:C:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr16:65185699:A:G 1,.,. 6.57151e-06 0 1 -1 -1 -1 44,.,. 0.431818,.,. dominant HG002 HG002 chr16:65552044:G:GCAA 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr16:65552045:A:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. recessive HG002 HG002 chr16:65780533:TTG:T 2,.,. 0.00834598 0 55 0.00105116 0 3 30,.,. 1,.,. recessive HG002 HG002 chr16:65861936:C:CATGCT 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr16:65861938:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr16:65961902:AGGGAGGAAAGGAGG:A 1,.,. 1.43629e-05 0 1 -1 -1 -1 33,.,. 0.272727,.,. dominant HG002 HG002 chr16:66600596:C:G 1,.,. 1.97371e-05 0 3 -1 -1 -1 35,.,. 0.285714,.,. dominant HG002 HG002 chr16:66814608:A:AAAATAC 1,.,. -1 -1 -1 -1 -1 -1 NAE1 50_intron 30,.,. 0.3,.,. NAE1/intron/;NAE1/non_coding/ 0.0000 0.6387 0.8470 3 Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia dominant HG002 HG002 chr16:66898388:CGGGAACCAGGCCTAGA:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr16:66898405:C:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr16:66971704:G:A 1,.,. -1 -1 -1 -1 -1 -1 CES3 50_intron 23,.,. 0.304348,.,. CES3/intron/ 0.0000 0.7794 0.9870 5 dominant HG002 HG002 chr16:66971705:A:G 1,.,. -1 -1 -1 -1 -1 -1 CES3 50_intron 22,.,. 0.318182,.,. CES3/intron/ 0.0000 0.7794 0.9870 5 dominant HG002 HG002 chr16:66971709:A:T 1,.,. -1 -1 -1 -1 -1 -1 CES3 50_intron 22,.,. 0.318182,.,. CES3/intron/ 0.0000 0.7794 0.9870 5 dominant HG002 HG002 chr16:66971710:G:A 1,.,. 6.59692e-06 0 1 -1 -1 -1 CES3 50_intron 22,.,. 0.318182,.,. CES3/intron/ 0.0000 0.7794 0.9870 5 dominant HG002 HG002 chr16:67759197:C:T 1,.,. 2.6255e-05 0 4 -1 -1 -1 RANBP10 50_intron 39,.,. 0.538462,.,. RANBP10/intron/;RANBP10/non_coding/ 0.9918 0.3428 0.4820 1 dominant HG002 HG002 chr16:67909872:C:T 1,.,. -1 -1 -1 -1 -1 -1 PSKH1 36_3_prime_utr 34,.,. 0.705882,.,. PSKH1/3_prime_utr/ENST00000570631 0.1479 0.4381 0.7100 2 Cholestasis, progressive familial intrahepatic, 13 dominant HG002 HG002 chr16:68463628:C:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr16:68463629:A:AAGTGCCTACCCCATCAT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr16:68569771:G:C 1,.,. -1 -1 -1 -1 -1 -1 ZFP90 50_intron 45,.,. 0.377778,.,. ZFP90/intron/ 0.0000 0.6020 0.7890 3 recessive HG002 HG002 chr16:68743359:C:T 2,.,. 5.40054e-05 0 3 -1 -1 -1 CDH1 50_intron 25,.,. 1,.,. CDH1/intron/ 0.8561 0.3826 0.5140 1 Ovarian cancer;Familial cancer of breast;Blepharocheilodontic syndrome 1;Hereditary diffuse gastric adenocarcinoma 0.000 dominant HG002 HG002 chr16:68754103:C:T 1,.,. -1 -1 -1 0.00105116 0 3 CDH1 50_intron 41,.,. 0.439024,.,. CDH1/intron/ 0.8561 0.3826 0.5140 1 Ovarian cancer;Familial cancer of breast;Blepharocheilodontic syndrome 1;Hereditary diffuse gastric adenocarcinoma 0.000 dominant HG002 HG002 chr16:69714437:C:T 1,.,. -1 -1 -1 -1 -1 -1 NQO1 50_intron 26,.,. 0.5,.,. NQO1/intron/ 0.0000 0.8835 1.2340 6 dominant HG002 HG002 chr16:69752335:C:T 1,.,. 1.31422e-05 0 2 -1 -1 -1 NOB1 14_missense 35,.,. 0.4,.,. NOB1/missense/ENST00000268802 0.0000 0.9507 1.2330 6 dominant HG002 HG002 chr16:69832496:TTACATGTCCCCAGTTGTAG:T 1,.,. -1 -1 -1 -1 -1 -1 WWP2 50_intron 47,.,. 0.468085,.,. WWP2/intron/;WWP2/non_coding/ 0.0002 0.4576 0.5720 1 dominant HG002 HG002 chr16:69953805:A:ACT 1,.,. 9.49614e-06 0 1 0.00140154 0 4 CLEC18A 50_intron 14,.,. 0.428571,.,. CLEC18A/intron/;CLEC18A/non_coding/ 0.8159 0.2998 0.6300 2 dominant HG002 HG002 chr16:69955061:T:C 1,.,. -1 -1 -1 0.000700771 0 2 CLEC18A 50_intron 13,.,. 0.384615,.,. CLEC18A/intron/;CLEC18A/non_coding/ 0.8159 0.2998 0.6300 2 dominant HG002 HG002 chr16:69955451:A:G 1,.,. 1.97819e-05 0 3 0.00140154 0 4 CLEC18A 50_intron 13,.,. 0.384615,.,. CLEC18A/intron/;CLEC18A/non_coding/ 0.8159 0.2998 0.6300 2 dominant HG002 HG002 chr16:69956247:C:T 1,.,. -1 -1 -1 0.00105116 0 3 CLEC18A 50_intron 12,.,. 0.333333,.,. CLEC18A/intron/;CLEC18A/non_coding/ 0.8159 0.2998 0.6300 2 dominant HG002 HG002 chr16:70640629:A:T 1,.,. -1 -1 -1 -1 -1 -1 IL34 50_intron 32,.,. 0.40625,.,. IL34/intron/ 0.0000 0.8739 1.3110 7 dominant HG002 HG002 chr16:70644912:GAGGAGAAGGAGGAGGA:G 1,.,. -1 -1 -1 -1 -1 -1 IL34 50_intron 29,.,. 0.448276,.,. IL34/intron/ 0.0000 0.8739 1.3110 7 dominant HG002 HG002 chr16:70644935:A:G 1,.,. -1 -1 -1 -1 -1 -1 IL34 50_intron 30,.,. 0.5,.,. IL34/intron/ 0.0000 0.8739 1.3110 7 dominant HG002 HG002 chr16:70944584:C:T 1,.,. -1 -1 -1 -1 -1 -1 HYDIN 50_intron 34,.,. 0.441176,.,. HYDIN/intron/;HYDIN/non_coding/ 0.0000 0.4694 0.5550 1 Primary ciliary dyskinesia 5 0.000 dominant HG002 HG002 chr16:71017075:C:T 1,.,. 6.58007e-06 0 1 -1 -1 -1 HYDIN 50_intron 37,.,. 0.486486,.,. HYDIN/intron/ 0.0000 0.4694 0.5550 1 Primary ciliary dyskinesia 5 0.000 dominant HG002 HG002 chr16:71058358:G:C 1,.,. -1 -1 -1 0.000700771 0 2 HYDIN 50_intron 30,.,. 0.5,.,. HYDIN/intron/;HYDIN/non_coding/ 0.0000 0.4694 0.5550 1 Primary ciliary dyskinesia 5 0.000 dominant HG002 HG002 chr16:71111086:TCAGAGAA:T 1,.,. -1 -1 -1 -1 -1 -1 HYDIN 50_intron 39,.,. 0.461538,.,. HYDIN/intron/ 0.0000 0.4694 0.5550 1 Primary ciliary dyskinesia 5 0.000 dominant HG002 HG002 chr16:71111094:C:T 1,.,. -1 -1 -1 -1 -1 -1 HYDIN 50_intron 39,.,. 0.461538,.,. HYDIN/intron/ 0.0000 0.4694 0.5550 1 Primary ciliary dyskinesia 5 0.000 dominant HG002 HG002 chr16:71111095:A:C 1,.,. -1 -1 -1 -1 -1 -1 HYDIN 50_intron 39,.,. 0.461538,.,. HYDIN/intron/ 0.0000 0.4694 0.5550 1 Primary ciliary dyskinesia 5 0.000 dominant HG002 HG002 chr16:71327147:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.568182,.,. dominant HG002 HG002 chr16:71614558:C:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr16:72125804:A:G 1,.,. 6.5735e-06 0 1 -1 -1 -1 PMFBP1 50_intron 28,.,. 0.535714,.,. PMFBP1/intron/ 0.0000 0.8888 1.0300 5 Spermatogenic failure 31 0.000 dominant HG002 HG002 chr16:72172865:A:G 1,.,. -1 -1 -1 -1 -1 -1 PMFBP1 50_intron 30,.,. 0.5,.,. PMFBP1/intron/ 0.0000 0.8888 1.0300 5 Spermatogenic failure 31 0.000 recessive HG002 HG002 chr16:72401192:G:GGA 2,.,. 0.00136612 0 1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr16:72401194:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr16:72575995:TACAGA:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr16:72576001:G:C 2,.,. 0.00213675 0 3 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr16:72633316:A:G 2,.,. -1 -1 -1 0.0220743 1 63 40,.,. 1,.,. recessive HG002 HG002 chr16:72633318:A:AATAAT 2,.,. 2.06061e-05 0 3 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr16:72954184:A:G 1,.,. -1 -1 -1 -1 -1 -1 ZFHX3 50_intron 25,.,. 0.56,.,. ZFHX3/intron/ 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 recessive HG002 HG002 chr16:73018278:A:C 2,.,. 0.00108225 0 1 -1 -1 -1 ZFHX3 50_intron 25,.,. 1,.,. ZFHX3/intron/ 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 recessive HG002 HG002 chr16:73018279:T:A 2,.,. 6.58389e-06 0 1 -1 -1 -1 ZFHX3 50_intron 25,.,. 1,.,. ZFHX3/intron/ 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 recessive HG002 HG002 chr16:73018280:A:T 2,.,. -1 -1 -1 -1 -1 -1 ZFHX3 50_intron 25,.,. 1,.,. ZFHX3/intron/ 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 dominant HG002 HG002 chr16:73059500:TTTTC:T 1,.,. 2.72168e-05 0 4 -1 -1 -1 ZFHX3 35_5_prime_utr 29,.,. 0.517241,.,. ZFHX3/5_prime_utr/ENST00000397992 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 dominant HG002 HG002 chr16:73181092:T:G 1,.,. -1 -1 -1 -1 -1 -1 ZFHX3 50_intron 35,.,. 0.4,.,. ZFHX3/intron/ 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 dominant HG002 HG002 chr16:73258344:T:A 1,.,. -1 -1 -1 -1 -1 -1 ZFHX3 50_intron 48,.,. 0.520833,.,. ZFHX3/intron/ 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 dominant HG002 HG002 chr16:73305653:C:T 1,.,. 1.97501e-05 0 3 -1 -1 -1 ZFHX3 50_intron 43,.,. 0.488372,.,. ZFHX3/intron/ 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 dominant HG002 HG002 chr16:73308275:A:T 1,.,. -1 -1 -1 0.000700771 0 2 ZFHX3 50_intron 41,.,. 0.536585,.,. ZFHX3/intron/ 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 dominant HG002 HG002 chr16:73325920:C:CACACACACACAAAA 1,.,. -1 -1 -1 -1 -1 -1 ZFHX3 50_intron 36,.,. 0.333333,.,. ZFHX3/intron/ 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 dominant HG002 HG002 chr16:73386560:A:G 1,.,. 1.31458e-05 0 2 -1 -1 -1 ZFHX3 50_intron 37,.,. 0.486486,.,. ZFHX3/intron/ 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 dominant HG002 HG002 chr16:73418845:T:A 1,.,. -1 -1 -1 -1 -1 -1 ZFHX3 50_intron 38,.,. 0.5,.,. ZFHX3/intron/ 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 recessive HG002 HG002 chr16:73716612:AACACACAC:A 2,.,. 0.00150924 0 48 -1 -1 -1 ZFHX3 50_intron 33,.,. 1,.,. ZFHX3/intron/;ZFHX3/non_coding/ 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 recessive HG002 HG002 chr16:73716650:C:A 2,.,. 0.0123738 0 125 0.000700771 0 2 ZFHX3 50_intron 36,.,. 1,.,. ZFHX3/intron/;ZFHX3/non_coding/ 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 dominant HG002 HG002 chr16:73788726:C:G 1,.,. 1.32205e-05 0 2 -1 -1 -1 ZFHX3 50_intron 50,.,. 0.54,.,. ZFHX3/intron/;ZFHX3/non_coding/ 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 dominant HG002 HG002 chr16:73884527:A:G 1,.,. 1.97091e-05 0 3 -1 -1 -1 ZFHX3 50_intron 32,.,. 0.625,.,. ZFHX3/intron/;ZFHX3/non_coding/ 1.0000 0.1463 0.1890 0 Atrial fibrillation, familial, 8;Spinocerebellar ataxia type 4;Familial prostate cancer 0.000 dominant HG002 HG002 chr16:73933947:G:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr16:74034875:C:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.404255,.,. dominant HG002 HG002 chr16:74109885:T:G 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.56,.,. dominant HG002 HG002 chr16:74223674:T:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. recessive HG002 HG002 chr16:74396172:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr16:74408122:G:A 1,.,. -1 -1 -1 0.000700771 0 2 33,.,. 0.333333,.,. dominant HG002 HG002 chr16:74502772:G:A 1,.,. -1 -1 -1 -1 -1 -1 GLG1 50_intron 30,.,. 0.4,.,. GLG1/intron/ 0.9997 0.2957 0.4340 1 dominant HG002 HG002 chr16:74729420:G:A 1,.,. 1.97135e-05 0 3 -1 -1 -1 FA2H 50_intron 31,.,. 0.516129,.,. FA2H/intron/ 0.0053 0.5118 0.7590 3 Hereditary spastic paraplegia 35 0.000 dominant HG002 HG002 chr16:75058100:C:T 1,.,. 3.42286e-05 0 3 -1 -1 -1 ZNRF1 50_intron 38,.,. 0.526316,.,. ZNRF1/intron/;ZNRF1/non_coding/ 0.9673 0.1928 0.4980 1 dominant HG002 HG002 chr16:75180991:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.323529,.,. dominant HG002 HG002 chr16:75423635:C:T 1,.,. 6.57523e-06 0 1 -1 -1 -1 CFDP1 50_intron 43,.,. 0.511628,.,. CFDP1/intron/;CFDP1/non_coding/ 0.0000 0.7974 1.1000 5 dominant HG002 HG002 chr16:75510665:G:A 1,.,. 2.63435e-05 0 4 -1 -1 -1 TMEM231P1 53_non_coding 36,.,. 0.305556,.,. TMEM231P1/non_coding/ dominant HG002 HG002 chr16:75838563:C:T 1,.,. 2.62871e-05 0 4 -1 -1 -1 41,.,. 0.609756,.,. dominant HG002 HG002 chr16:75882202:C:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.5,.,. dominant HG002 HG002 chr16:75928344:A:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr16:75928582:T:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr16:75995032:GTTACCT:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.534884,.,. dominant HG002 HG002 chr16:75995039:A:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr16:76013111:C:CAT 1,.,. 1.88914e-05 0 1 -1 -1 -1 52,.,. 0.423077,.,. dominant HG002 HG002 chr16:76063799:T:C 1,.,. 1.97151e-05 0 3 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr16:76114860:A:G 1,.,. 6.57281e-06 0 1 -1 -1 -1 49,.,. 0.408163,.,. dominant HG002 HG002 chr16:76448384:C:A 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP4;AC106741.1 50_intron 31,.,. 0.548387,.,. CNTNAP4/intron/;AC106741.1/intron/;CNTNAP4/non_coding/ 0.0000 0.6837 0.8310 3 dominant HG002 HG002 chr16:76483051:AGCTTGG:A 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP4;AC106741.1 50_intron 36,.,. 0.555556,.,. CNTNAP4/intron/;AC106741.1/intron/;CNTNAP4/non_coding/ 0.0000 0.6837 0.8310 3 dominant HG002 HG002 chr16:76483058:A:T 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP4;AC106741.1 50_intron 36,.,. 0.555556,.,. CNTNAP4/intron/;AC106741.1/intron/;CNTNAP4/non_coding/ 0.0000 0.6837 0.8310 3 dominant HG002 HG002 chr16:76556096:A:G 1,.,. -1 -1 -1 -1 -1 -1 CNTNAP4;AC106741.1 50_intron 33,.,. 0.515152,.,. CNTNAP4/intron/;AC106741.1/intron/ 0.0000 0.6837 0.8310 3 dominant HG002 HG002 chr16:76596749:A:C 1,.,. -1 -1 -1 0.00105116 0 3 AC106741.1 50_intron 33,.,. 0.484848,.,. AC106741.1/intron/ dominant HG002 HG002 chr16:76724958:ATAAAAC:A 1,.,. -1 -1 -1 -1 -1 -1 AC106741.1 50_intron 39,.,. 0.589744,.,. AC106741.1/intron/ dominant HG002 HG002 chr16:76724965:C:A 1,.,. -1 -1 -1 -1 -1 -1 AC106741.1 50_intron 39,.,. 0.589744,.,. AC106741.1/intron/ dominant HG002 HG002 chr16:76845174:C:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr16:76886735:C:A 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.481481,.,. dominant HG002 HG002 chr16:76916211:ATATATATATATATATG:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.326087,.,. dominant HG002 HG002 chr16:76918468:G:A 1,.,. 6.57168e-06 0 1 -1 -1 -1 44,.,. 0.545455,.,. dominant HG002 HG002 chr16:76995657:C:G 1,.,. 1.31447e-05 0 2 -1 -1 -1 31,.,. 0.612903,.,. dominant HG002 HG002 chr16:77128485:G:GAGAGAC 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr16:77137411:A:T 1,.,. 2.62836e-05 0 4 -1 -1 -1 39,.,. 0.512821,.,. recessive HG002 HG002 chr16:77140601:CTACG:C 2,.,. -1 -1 -1 0.00840925 1 24 38,.,. 1,.,. recessive HG002 HG002 chr16:77140609:G:A 2,.,. 0.00568182 0 2 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr16:77177900:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.45098,.,. dominant HG002 HG002 chr16:77177903:A:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.45098,.,. dominant HG002 HG002 chr16:77178766:G:A 1,.,. 2.62961e-05 0 4 -1 -1 -1 51,.,. 0.411765,.,. dominant HG002 HG002 chr16:77334767:A:C 1,.,. -1 -1 -1 -1 -1 -1 ADAMTS18 50_intron 42,.,. 0.547619,.,. ADAMTS18/intron/ 0.0000 0.9236 1.0550 5 Microcornea-myopic chorioretinal atrophy 0.000 dominant HG002 HG002 chr16:77349017:G:T 1,.,. 2.66141e-05 0 4 -1 -1 -1 ADAMTS18 50_intron 44,.,. 0.477273,.,. ADAMTS18/intron/ 0.0000 0.9236 1.0550 5 Microcornea-myopic chorioretinal atrophy 0.000 dominant HG002 HG002 chr16:77539456:T:C 1,.,. 1.97254e-05 0 3 -1 -1 -1 49,.,. 0.510204,.,. recessive HG002 HG002 chr16:77727878:A:AAAAT 2,.,. -1 -1 -1 -1 -1 -1 NUDT7 50_intron 34,.,. 1,.,. NUDT7/intron/ 0.0000 1.5983 1.9410 9 recessive HG002 HG002 chr16:77727880:T:A 2,.,. 1.98486e-05 0 3 -1 -1 -1 NUDT7 50_intron 34,.,. 1,.,. NUDT7/intron/ 0.0000 1.5983 1.9410 9 dominant HG002 HG002 chr16:77794592:G:A 1,.,. -1 -1 -1 -1 -1 -1 VAT1L 50_intron 28,.,. 0.571429,.,. VAT1L/intron/ 0.0000 0.7966 1.0610 5 dominant HG002 HG002 chr16:77798399:T:C 1,.,. -1 -1 -1 -1 -1 -1 VAT1L 50_intron 33,.,. 0.636364,.,. VAT1L/intron/ 0.0000 0.7966 1.0610 5 dominant HG002 HG002 chr16:77801044:G:C 1,.,. -1 -1 -1 -1 -1 -1 VAT1L 50_intron 35,.,. 0.6,.,. VAT1L/intron/ 0.0000 0.7966 1.0610 5 dominant HG002 HG002 chr16:77801202:ATAC:A 1,.,. -1 -1 -1 -1 -1 -1 VAT1L 50_intron 34,.,. 0.382353,.,. VAT1L/intron/ 0.0000 0.7966 1.0610 5 dominant HG002 HG002 chr16:77801206:C:A 1,.,. -1 -1 -1 -1 -1 -1 VAT1L 50_intron 34,.,. 0.382353,.,. VAT1L/intron/ 0.0000 0.7966 1.0610 5 dominant HG002 HG002 chr16:77802629:C:A 1,.,. -1 -1 -1 -1 -1 -1 VAT1L 50_intron 28,.,. 0.285714,.,. VAT1L/intron/ 0.0000 0.7966 1.0610 5 dominant HG002 HG002 chr16:77802633:C:A 1,.,. -1 -1 -1 -1 -1 -1 VAT1L 50_intron 31,.,. 0.580645,.,. VAT1L/intron/ 0.0000 0.7966 1.0610 5 dominant HG002 HG002 chr16:77807258:G:C 1,.,. -1 -1 -1 -1 -1 -1 VAT1L 50_intron 27,.,. 0.555556,.,. VAT1L/intron/ 0.0000 0.7966 1.0610 5 dominant HG002 HG002 chr16:77807899:G:C 1,.,. 6.57194e-06 0 1 -1 -1 -1 VAT1L 50_intron 25,.,. 0.6,.,. VAT1L/intron/ 0.0000 0.7966 1.0610 5 dominant HG002 HG002 chr16:77808788:T:C 1,.,. -1 -1 -1 -1 -1 -1 VAT1L 50_intron 25,.,. 0.6,.,. VAT1L/intron/ 0.0000 0.7966 1.0610 5 dominant HG002 HG002 chr16:77962731:A:AGAAGGAAG 1,.,. -1 -1 -1 -1 -1 -1 VAT1L 50_intron 38,.,. 0.552632,.,. VAT1L/intron/ 0.0000 0.7966 1.0610 5 dominant HG002 HG002 chr16:78063217:G:A 1,.,. -1 -1 -1 -1 -1 -1 CLEC3A 50_intron 37,.,. 0.513514,.,. CLEC3A/intron/ 0.0000 1.2732 1.7280 8 dominant HG002 HG002 chr16:78151496:C:T 1,.,. 2.62978e-05 0 4 -1 -1 -1 WWOX 50_intron 44,.,. 0.386364,.,. WWOX/intron/;WWOX/non_coding/ 0.0000 1.5060 1.8200 9 Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 0.000 dominant HG002 HG002 chr16:78261756:CTATCTATCTATCTATG:C 1,.,. -1 -1 -1 -1 -1 -1 WWOX 50_intron 41,.,. 0.390244,.,. WWOX/intron/;WWOX/non_coding/ 0.0000 1.5060 1.8200 9 Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 0.000 dominant HG002 HG002 chr16:78424120:G:T 1,.,. -1 -1 -1 -1 -1 -1 WWOX 50_intron 32,.,. 0.53125,.,. WWOX/intron/;WWOX/non_coding/ 0.0000 1.5060 1.8200 9 Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 0.000 dominant HG002 HG002 chr16:78424123:T:G 1,.,. -1 -1 -1 -1 -1 -1 WWOX 50_intron 32,.,. 0.28125,.,. WWOX/intron/;WWOX/non_coding/ 0.0000 1.5060 1.8200 9 Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 0.000 dominant HG002 HG002 chr16:78454366:G:T 1,.,. -1 -1 -1 -1 -1 -1 WWOX 50_intron 48,.,. 0.520833,.,. WWOX/intron/ 0.0000 1.5060 1.8200 9 Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 0.000 recessive HG002 HG002 chr16:78490261:C:A 2,.,. -1 -1 -1 -1 -1 -1 WWOX 50_intron 36,.,. 1,.,. WWOX/intron/ 0.0000 1.5060 1.8200 9 Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 0.000 recessive HG002 HG002 chr16:78490262:G:C 2,.,. -1 -1 -1 -1 -1 -1 WWOX 50_intron 36,.,. 1,.,. WWOX/intron/ 0.0000 1.5060 1.8200 9 Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 0.000 recessive HG002 HG002 chr16:78501193:C:T 2,.,. -1 -1 -1 0.00525578 0 15 WWOX 50_intron 33,.,. 1,.,. WWOX/intron/ 0.0000 1.5060 1.8200 9 Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 0.000 dominant HG002 HG002 chr16:78555506:G:T 1,.,. -1 -1 -1 -1 -1 -1 WWOX 50_intron 40,.,. 0.475,.,. WWOX/intron/ 0.0000 1.5060 1.8200 9 Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 0.000 dominant HG002 HG002 chr16:78884293:A:AC 1,.,. -1 -1 -1 -1 -1 -1 WWOX 50_intron 20,.,. 0.3,.,. WWOX/intron/ 0.0000 1.5060 1.8200 9 Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 0.000 dominant HG002 HG002 chr16:79031893:C:G 1,.,. -1 -1 -1 -1 -1 -1 WWOX 50_intron 28,.,. 0.428571,.,. WWOX/intron/ 0.0000 1.5060 1.8200 9 Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 0.000 dominant HG002 HG002 chr16:79031895:G:T 1,.,. -1 -1 -1 -1 -1 -1 WWOX 50_intron 28,.,. 0.428571,.,. WWOX/intron/ 0.0000 1.5060 1.8200 9 Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 0.000 dominant HG002 HG002 chr16:79031897:T:G 1,.,. -1 -1 -1 -1 -1 -1 WWOX 50_intron 28,.,. 0.428571,.,. WWOX/intron/ 0.0000 1.5060 1.8200 9 Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 0.000 dominant HG002 HG002 chr16:79043259:G:A 1,.,. 6.57402e-06 0 1 -1 -1 -1 WWOX 50_intron 23,.,. 0.652174,.,. WWOX/intron/ 0.0000 1.5060 1.8200 9 Malignant tumor of esophagus;Autosomal recessive spinocerebellar ataxia 12;Developmental and epileptic encephalopathy, 28 0.000 dominant HG002 HG002 chr16:79793083:T:C 1,.,. 1.31511e-05 0 2 -1 -1 -1 49,.,. 0.55102,.,. dominant HG002 HG002 chr16:79964038:G:A 1,.,. 6.57298e-06 0 1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr16:80356486:G:A 1,.,. 3.3066e-05 0 4 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr16:80590813:C:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr16:80697174:C:T 1,.,. 6.57367e-06 0 1 -1 -1 -1 CDYL2 50_intron 48,.,. 0.5,.,. CDYL2/intron/;CDYL2/non_coding/ 0.0022 0.5035 0.7130 2 dominant HG002 HG002 chr16:80858747:TAAGTATCACTCTC:T 1,.,. -1 -1 -1 -1 -1 -1 AC009070.1 50_intron 45,.,. 0.533333,.,. AC009070.1/non_coding/;AC009070.1/intron/ dominant HG002 HG002 chr16:80858763:G:C 1,.,. -1 -1 -1 -1 -1 -1 AC009070.1 50_intron 45,.,. 0.533333,.,. AC009070.1/non_coding/;AC009070.1/intron/ dominant HG002 HG002 chr16:80946857:C:G 1,.,. -1 -1 -1 -1 -1 -1 AC009070.1 50_intron 28,.,. 0.392857,.,. AC009070.1/non_coding/;AC009070.1/intron/ dominant HG002 HG002 chr16:80992717:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 AC009070.1;CMC2 50_intron 45,.,. 0.444444,.,. AC009070.1/non_coding/;AC009070.1/intron/;CMC2/non_coding/ dominant HG002 HG002 chr16:81050851:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 AC092718.8 50_intron 25,.,. 0.44,.,. AC092718.8/intron/ dominant HG002 HG002 chr16:81083175:TAATA:T 1,.,. -1 -1 -1 -1 -1 -1 GCSH 36_3_prime_utr 31,.,. 0.677419,.,. GCSH/3_prime_utr/ENST00000639689;GCSH/3_prime_utr/ENST00000639169 0.3344 0.3612 1.5370 8 Multiple mitochondrial dysfunctions syndrome 7 0.000 dominant HG002 HG002 chr16:81083180:A:T 1,.,. -1 -1 -1 -1 -1 -1 GCSH 36_3_prime_utr 31,.,. 0.677419,.,. GCSH/3_prime_utr/ENST00000639689;GCSH/3_prime_utr/ENST00000639169 0.3344 0.3612 1.5370 8 Multiple mitochondrial dysfunctions syndrome 7 0.000 dominant HG002 HG002 chr16:81092755:C:A 1,.,. -1 -1 -1 -1 -1 -1 AC092718.8;AC092718.3 50_intron 27,.,. 0.481481,.,. AC092718.8/intron/;AC092718.3/intron/ dominant HG002 HG002 chr16:81112577:T:TGAG 1,.,. -1 -1 -1 -1 -1 -1 PKD1L2 50_intron 30,.,. 0.633333,.,. PKD1L2/non_coding/;PKD1L2/intron/ 0.0000 1.3255 1.5220 8 dominant HG002 HG002 chr16:81150541:G:A 1,.,. -1 -1 -1 -1 -1 -1 PKD1L2 50_intron 31,.,. 0.516129,.,. PKD1L2/intron/;PKD1L2/non_coding/ 0.0000 1.3255 1.5220 8 dominant HG002 HG002 chr16:81191247:CGGGACTG:C 1,.,. -1 -1 -1 -1 -1 -1 PKD1L2 50_intron 33,.,. 0.424242,.,. PKD1L2/intron/ 0.0000 1.3255 1.5220 8 dominant HG002 HG002 chr16:81191255:C:T 1,.,. -1 -1 -1 -1 -1 -1 PKD1L2 50_intron 32,.,. 0.4375,.,. PKD1L2/intron/ 0.0000 1.3255 1.5220 8 dominant HG002 HG002 chr16:81237044:C:T 1,.,. 6.59161e-06 0 1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr16:81585755:C:T 1,.,. -1 -1 -1 -1 -1 -1 CMIP 50_intron 29,.,. 0.551724,.,. CMIP/intron/ 1.0000 0.1047 0.1890 0 dominant HG002 HG002 chr16:81705121:A:C 1,.,. 6.57644e-06 0 1 -1 -1 -1 CMIP 50_intron 17,.,. 0.764706,.,. CMIP/intron/;CMIP/non_coding/ 1.0000 0.1047 0.1890 0 dominant HG002 HG002 chr16:82190316:G:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr16:82270339:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.380952,.,. dominant HG002 HG002 chr16:82326726:G:A 1,.,. 1.31413e-05 0 2 0.000700771 0 2 45,.,. 0.511111,.,. dominant HG002 HG002 chr16:82734344:C:T 1,.,. -1 -1 -1 -1 -1 -1 CDH13 50_intron 31,.,. 0.419355,.,. CDH13/intron/;CDH13/non_coding/ 0.9981 0.3005 0.4560 1 dominant HG002 HG002 chr16:82952426:T:C 1,.,. -1 -1 -1 -1 -1 -1 CDH13 50_intron 38,.,. 0.368421,.,. CDH13/intron/;CDH13/non_coding/ 0.9981 0.3005 0.4560 1 dominant HG002 HG002 chr16:82995187:G:A 1,.,. -1 -1 -1 -1 -1 -1 CDH13 50_intron 38,.,. 0.578947,.,. CDH13/intron/;CDH13/non_coding/ 0.9981 0.3005 0.4560 1 recessive HG002 HG002 chr16:83252139:T:C 2,.,. -1 -1 -1 0.00840925 0 24 CDH13 50_intron 26,.,. 1,.,. CDH13/intron/;CDH13/non_coding/ 0.9981 0.3005 0.4560 1 recessive HG002 HG002 chr16:83632283:A:G 2,.,. -1 -1 -1 -1 -1 -1 CDH13 50_intron 27,.,. 1,.,. CDH13/intron/ 0.9981 0.3005 0.4560 1 recessive HG002 HG002 chr16:83658326:A:AAGGTCCCATATGCTCACCAGCAAGGTCTCATGTCCTCGCCACC 2,.,. -1 -1 -1 0.00280308 0 8 CDH13 50_intron 21,.,. 1,.,. CDH13/intron/;CDH13/non_coding/ 0.9981 0.3005 0.4560 1 dominant HG002 HG002 chr16:83974044:T:C 1,.,. -1 -1 -1 -1 -1 -1 NECAB2 50_intron 21,.,. 0.571429,.,. NECAB2/intron/ 0.0000 1.4012 1.7130 8 dominant HG002 HG002 chr16:83992209:C:CTCACAA 1,.,. -1 -1 -1 -1 -1 -1 NECAB2 50_intron 24,.,. 0.416667,.,. NECAB2/intron/ 0.0000 1.4012 1.7130 8 dominant HG002 HG002 chr16:84002998:G:A 1,.,. 1.12862e-05 0 1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr16:84002999:TAGATGACA:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr16:84007348:A:C 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr16:84456856:T:G 1,.,. -1 -1 -1 -1 -1 -1 ATP2C2 50_intron 36,.,. 0.638889,.,. ATP2C2/intron/;ATP2C2/non_coding/ 0.0000 1.5007 1.7120 8 dominant HG002 HG002 chr16:85157077:T:C 1,.,. -1 -1 -1 -1 -1 -1 15,.,. 0.733333,.,. dominant HG002 HG002 chr16:85417407:G:T 1,.,. -1 -1 -1 -1 -1 -1 GSE1 50_intron 20,.,. 0.35,.,. GSE1/intron/ 1.0000 0.2450 0.3560 0 dominant HG002 HG002 chr16:85426702:G:A 1,.,. 6.72296e-06 0 1 -1 -1 -1 GSE1 50_intron 18,.,. 0.666667,.,. GSE1/intron/ 1.0000 0.2450 0.3560 0 dominant HG002 HG002 chr16:85434339:A:AATCATCATC 1,.,. -1 -1 -1 -1 -1 -1 GSE1 50_intron 22,.,. 0.5,.,. GSE1/intron/ 1.0000 0.2450 0.3560 0 dominant HG002 HG002 chr16:85466699:TATAGAGAG:T 1,.,. -1 -1 -1 -1 -1 -1 GSE1 50_intron 24,.,. 0.333333,.,. GSE1/intron/ 1.0000 0.2450 0.3560 0 dominant HG002 HG002 chr16:85575838:T:G 1,.,. -1 -1 -1 -1 -1 -1 GSE1 50_intron 23,.,. 0.391304,.,. GSE1/intron/ 1.0000 0.2450 0.3560 0 dominant HG002 HG002 chr16:86108005:A:ACTG 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.631579,.,. dominant HG002 HG002 chr16:86295240:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr16:86295410:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.648649,.,. recessive HG002 HG002 chr16:86334372:C:CACT 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr16:86334374:T:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr16:86337140:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chr16:86678344:GGT:G 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.45,.,. dominant HG002 HG002 chr16:86998489:AGC:A 1,.,. 1.31562e-05 0 2 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr16:86998492:T:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr16:87062949:T:C 1,.,. 6.57186e-06 0 1 -1 -1 -1 33,.,. 0.545455,.,. recessive HG002 HG002 chr16:87564573:T:G 2,.,. 0.000281849 0 7 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chr16:87738430:G:C 1,.,. 6.57557e-06 0 1 -1 -1 -1 KLHDC4 50_intron 20,.,. 0.4,.,. KLHDC4/intron/;KLHDC4/non_coding/ 0.0000 1.4437 1.7400 8 dominant HG002 HG002 chr16:87944577:T:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.538462,.,. recessive HG002 HG002 chr16:88533289:A:C 2,.,. -1 -1 -1 -1 -1 -1 ZFPM1 14_missense 17,.,. 1,.,. ZFPM1/missense/ENST00000319555 0.0000 0.8167 1.1140 6 recessive HG002 HG002 chr16:88533291:CCTCTGG:C 2,.,. -1 -1 -1 -1 -1 -1 ZFPM1 13_inframe_deletion 20,.,. 1,.,. ZFPM1/inframe_deletion/ENST00000319555 0.0000 0.8167 1.1140 6 dominant HG002 HG002 chr16:88854393:C:A 1,.,. 1.31273e-05 0 2 -1 -1 -1 GALNS 50_intron 27,.,. 0.37037,.,. GALNS/intron/;GALNS/non_coding/ 0.0000 1.0194 1.2510 7 Mucopolysaccharidosis, MPS-IV-A 0.000 dominant HG002 HG002 chr16:88857411:G:T 1,.,. 6.56953e-06 0 1 -1 -1 -1 TRAPPC2L 36_3_prime_utr 26,.,. 0.423077,.,. TRAPPC2L/3_prime_utr&NMD_transcript/ENST00000562792 0.0000 1.4146 1.8960 9 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 0.000 dominant HG002 HG002 chr16:89156876:C:T 1,.,. -1 -1 -1 -1 -1 -1 ACSF3 36_3_prime_utr 7,.,. 0.285714,.,. ACSF3/3_prime_utr&NMD_transcript/ENST00000649953 0.0000 1.4267 1.7150 8 Combined malonic and methylmalonic acidemia 0.000 recessive HG002 HG002 chr16:89193107:C:G 2,.,. -1 -1 -1 -1 -1 -1 CDH15 50_intron 25,.,. 1,.,. CDH15/intron/ 0.0000 1.1604 1.4100 7 Intellectual disability, autosomal dominant 3 0.000 recessive HG002 HG002 chr16:89193108:T:C 2,.,. -1 -1 -1 -1 -1 -1 CDH15 50_intron 25,.,. 1,.,. CDH15/intron/ 0.0000 1.1604 1.4100 7 Intellectual disability, autosomal dominant 3 0.000 recessive HG002 HG002 chr16:89193109:G:T 2,.,. -1 -1 -1 -1 -1 -1 CDH15 50_intron 25,.,. 1,.,. CDH15/intron/ 0.0000 1.1604 1.4100 7 Intellectual disability, autosomal dominant 3 0.000 recessive HG002 HG002 chr16:89193337:T:C 2,.,. -1 -1 -1 -1 -1 -1 CDH15 50_intron 24,.,. 1,.,. CDH15/intron/ 0.0000 1.1604 1.4100 7 Intellectual disability, autosomal dominant 3 0.000 recessive HG002 HG002 chr16:89193338:G:T 2,.,. -1 -1 -1 -1 -1 -1 CDH15 50_intron 24,.,. 1,.,. CDH15/intron/ 0.0000 1.1604 1.4100 7 Intellectual disability, autosomal dominant 3 0.000 dominant HG002 HG002 chr16:89391595:T:C 1,.,. 6.57237e-06 0 1 -1 -1 -1 ANKRD11 50_intron 30,.,. 0.333333,.,. ANKRD11/intron/;ANKRD11/non_coding/ 1.0000 0.0878 0.1320 0 KBG syndrome 0.000 recessive HG002 HG002 chr16:89469832:C:A 2,.,. -1 -1 -1 -1 -1 -1 ANKRD11 50_intron 36,.,. 1,.,. ANKRD11/intron/;ANKRD11/non_coding/ 1.0000 0.0878 0.1320 0 KBG syndrome 0.000 recessive HG002 HG002 chr16:89469833:A:G 2,.,. -1 -1 -1 -1 -1 -1 ANKRD11 50_intron 36,.,. 1,.,. ANKRD11/intron/;ANKRD11/non_coding/ 1.0000 0.0878 0.1320 0 KBG syndrome 0.000 recessive HG002 HG002 chr16:89469834:G:C 2,.,. -1 -1 -1 -1 -1 -1 ANKRD11 50_intron 36,.,. 1,.,. ANKRD11/intron/;ANKRD11/non_coding/ 1.0000 0.0878 0.1320 0 KBG syndrome 0.000 recessive HG002 HG002 chr16:89470522:GTAA:G 2,.,. -1 -1 -1 -1 -1 -1 ANKRD11 50_intron 33,.,. 1,.,. ANKRD11/intron/;ANKRD11/non_coding/ 1.0000 0.0878 0.1320 0 KBG syndrome 0.000 recessive HG002 HG002 chr16:89470527:T:A 2,.,. -1 -1 -1 -1 -1 -1 ANKRD11 50_intron 34,.,. 1,.,. ANKRD11/intron/;ANKRD11/non_coding/ 1.0000 0.0878 0.1320 0 KBG syndrome 0.000 dominant HG002 HG002 chr16:89520486:C:T 1,.,. 1.97189e-05 0 3 -1 -1 -1 SPG7 50_intron 28,.,. 0.428571,.,. SPG7/intron/;SPG7/non_coding/ 0.0000 1.3022 1.5470 8 Hereditary spastic paraplegia 7 0.000 dominant HG002 HG002 chr16:89560002:A:G 1,.,. 1.31501e-05 0 2 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr16:89566760:C:G 1,.,. 6.57462e-06 0 1 -1 -1 -1 31,.,. 0.645161,.,. dominant HG002 HG002 chr16:89591790:C:T 1,.,. 1.3161e-05 0 2 -1 -1 -1 CPNE7 50_intron 14,.,. 0.428571,.,. CPNE7/intron/ 0.0000 1.2606 1.5220 8 dominant HG002 HG002 chr16:89593509:C:A 1,.,. 1.32242e-05 0 2 -1 -1 -1 CPNE7 50_intron 13,.,. 0.384615,.,. CPNE7/intron/ 0.0000 1.2606 1.5220 8 dominant HG002 HG002 chr16:89794083:CAGATCTT:C 1,.,. -1 -1 -1 -1 -1 -1 FANCA 50_intron 29,.,. 0.517241,.,. FANCA/intron/ 0.0000 1.2018 1.3440 7 Fanconi anemia complementation group A 0.000 dominant HG002 HG002 chr16:89794092:A:C 1,.,. 1.36508e-05 0 1 -1 -1 -1 FANCA 50_intron 29,.,. 0.517241,.,. FANCA/intron/ 0.0000 1.2018 1.3440 7 Fanconi anemia complementation group A 0.000 recessive HG002 HG002 chr16:89852566:C:CTCT 2,.,. -1 -1 -1 -1 -1 -1 SPIRE2 50_intron 22,.,. 1,.,. SPIRE2/intron/;SPIRE2/non_coding/ 0.0000 1.1080 1.3460 7 dominant HG002 HG002 chr16:89868894:G:T 1,.,. 6.63016e-06 0 1 -1 -1 -1 SPIRE2 50_intron 30,.,. 0.466667,.,. SPIRE2/intron/;SPIRE2/non_coding/ 0.0000 1.1080 1.3460 7 dominant HG002 HG002 chr16:89884801:G:T 1,.,. -1 -1 -1 -1 -1 -1 TCF25 50_intron 30,.,. 0.6,.,. TCF25/intron/;TCF25/non_coding/ 0.0000 0.5182 0.6720 2 dominant HG002 HG002 chr16:89902307:G:C 1,.,. -1 -1 -1 -1 -1 -1 TCF25 50_intron 18,.,. 0.555556,.,. TCF25/intron/;TCF25/non_coding/ 0.0000 0.5182 0.6720 2 recessive HG002 HG002 chr16:89914343:GTGTGTGTGTGCC:G 2,.,. 0.00139457 4 101 0.00175193 0 5 MC1R 35_5_prime_utr 17,.,. 1,.,. MC1R/5_prime_utr/ENST00000555427 0.0090 1.5374 1.9330 9 Increased analgesia from kappa-opioid receptor agonist, female-specific;Melanoma, cutaneous malignant, susceptibility to, 5;SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2;Tyrosinase-positive oculocutaneous albinism 0.000 recessive HG002 HG002 chr16:89914378:G:T 2,.,. 0.00138412 2 71 0.0024527 1 7 MC1R 35_5_prime_utr 17,.,. 1,.,. MC1R/5_prime_utr/ENST00000555427 0.0090 1.5374 1.9330 9 Increased analgesia from kappa-opioid receptor agonist, female-specific;Melanoma, cutaneous malignant, susceptibility to, 5;SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2;Tyrosinase-positive oculocutaneous albinism 0.000 recessive HG002 HG002 chr17:294833:T:C 2,.,. 0.000187096 0 7 0.00420463 0 12 RPH3AL 50_intron 22,.,. 1,.,. RPH3AL/intron/;RPH3AL/non_coding/ 0.0000 0.9226 1.2090 6 recessive HG002 HG002 chr17:294836:A:G 2,.,. 0.000194519 0 9 0.00420463 0 12 RPH3AL 50_intron 22,.,. 1,.,. RPH3AL/intron/;RPH3AL/non_coding/ 0.0000 0.9226 1.2090 6 recessive HG002 HG002 chr17:307299:A:G 2,.,. 0.00330882 0 9 -1 -1 -1 RPH3AL 50_intron 10,.,. 1,.,. RPH3AL/intron/;RPH3AL/non_coding/ 0.0000 0.9226 1.2090 6 recessive HG002 HG002 chr17:343977:T:A 2,.,. -1 -1 -1 -1 -1 -1 RPH3AL 50_intron 15,.,. 1,.,. RPH3AL/intron/ 0.0000 0.9226 1.2090 6 dominant HG002 HG002 chr17:403756:C:CGCTCGATGGCTCGGAAGGACACTGGTGAG 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.5,.,. dominant HG002 HG002 chr17:403923:G:GTGGTGACGCTCGATGGCTCGGAAGGACAGTGGTGACGCTCGATGGCTCGGAAGGACAC 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.45,.,. dominant HG002 HG002 chr17:993519:C:CCCTCACGTAATCCACCCTCACGTAATCCACCTCACATAATCCACCCACCCTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCA 1,.,. 1.03734e-05 0 1 0.00105116 0 3 13,.,. 0.307692,.,. dominant HG002 HG002 chr17:1142984:G:A 1,.,. -1 -1 -1 0.000700771 0 2 ABR 50_intron 36,.,. 0.472222,.,. ABR/intron/;ABR/non_coding/ 1.0000 0.3252 0.4310 1 dominant HG002 HG002 chr17:1142985:C:T 1,.,. -1 -1 -1 0.000700771 0 2 ABR 50_intron 36,.,. 0.472222,.,. ABR/intron/;ABR/non_coding/ 1.0000 0.3252 0.4310 1 dominant HG002 HG002 chr17:1245139:CGAACACTGTT:C 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.269231,.,. dominant HG002 HG002 chr17:1245151:A:G 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.269231,.,. dominant HG002 HG002 chr17:1330771:G:A 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.25,.,. recessive HG002 HG002 chr17:1604187:T:C 2,.,. 0.000312305 0 1 -1 -1 -1 SLC43A2 50_intron 24,.,. 1,.,. SLC43A2/intron/;SLC43A2/non_coding/ 0.0000 0.6501 0.8520 3 recessive HG002 HG002 chr17:1604188:G:C 2,.,. -1 -1 -1 -1 -1 -1 SLC43A2 50_intron 25,.,. 1,.,. SLC43A2/intron/;SLC43A2/non_coding/ 0.0000 0.6501 0.8520 3 recessive HG002 HG002 chr17:1604189:TGCCACTAC:T 2,.,. -1 -1 -1 -1 -1 -1 SLC43A2 50_intron 25,.,. 1,.,. SLC43A2/intron/;SLC43A2/non_coding/ 0.0000 0.6501 0.8520 3 recessive HG002 HG002 chr17:1699901:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:1699902:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:1699903:G:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:1752113:T:A 2,.,. -1 -1 -1 -1 -1 -1 SERPINF2 50_intron 20,.,. 1,.,. SERPINF2/intron/ 0.9345 0.3441 0.5300 1 Alpha-2-plasmin inhibitor deficiency 0.000 dominant HG002 HG002 chr17:1836107:C:CTTAT 1,.,. -1 -1 -1 -1 -1 -1 RPA1 50_intron 24,.,. 0.416667,.,. RPA1/intron/ 0.0000 0.6394 0.8180 3 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 0.000 dominant HG002 HG002 chr17:1981140:T:TTGTCC 1,.,. -1 -1 -1 -1 -1 -1 RTN4RL1 50_intron 29,.,. 0.413793,.,. RTN4RL1/intron/ 0.7677 0.3333 0.6260 2 dominant HG002 HG002 chr17:1981144:G:C 1,.,. -1 -1 -1 -1 -1 -1 RTN4RL1 50_intron 27,.,. 0.444444,.,. RTN4RL1/intron/ 0.7677 0.3333 0.6260 2 dominant HG002 HG002 chr17:2355932:TGGGGGAAGGGACCCCATATCTTAGAATGGTAGAATCGGGGTGTAAGAGTTG:T 1,.,. -1 -1 -1 -1 -1 -1 SGSM2 50_intron 16,.,. 0.5625,.,. SGSM2/intron/ 0.0000 0.7109 0.8510 3 dominant HG002 HG002 chr17:2423269:T:G 1,.,. -1 -1 -1 -1 -1 -1 METTL16 50_intron 27,.,. 0.444444,.,. METTL16/intron/;METTL16/non_coding/ 0.9863 0.3320 0.4920 1 dominant HG002 HG002 chr17:2493758:C:G 1,.,. 1.32922e-05 0 2 -1 -1 -1 METTL16 50_intron 42,.,. 0.357143,.,. METTL16/intron/;METTL16/non_coding/ 0.9863 0.3320 0.4920 1 dominant HG002 HG002 chr17:2539062:G:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr17:2697959:C:T 1,.,. 1.97073e-05 0 3 -1 -1 -1 CLUH 14_missense 18,.,. 0.611111,.,. CLUH/missense/ENST00000435359;CLUH/missense/ENST00000574426;CLUH/missense/ENST00000570628;CLUH/missense/ENST00000651024;CLUH/missense/ENST00000575014 0.0000 0.6596 0.7990 3 dominant HG002 HG002 chr17:3228099:G:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr17:3228100:T:TGTG 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr17:3233731:G:A 1,.,. -1 -1 -1 0.000700771 0 2 37,.,. 0.513514,.,. dominant HG002 HG002 chr17:3343271:C:A 1,.,. -1 -1 -1 -1 -1 -1 OR3A2 50_intron 36,.,. 0.388889,.,. OR3A2/intron/;OR3A2/non_coding/ 0.3346 0.0000 1.8470 9 recessive HG002 HG002 chr17:3685658:C:G 2,.,. -1 -1 -1 -1 -1 -1 P2RX5-TAX1BP3;P2RX5 50_intron 22,.,. 1,.,. P2RX5-TAX1BP3/intron/;P2RX5/intron/;P2RX5/non_coding/ 0.0000 0.8197 1.0710 5 dominant HG002 HG002 chr17:3686543:C:T 1,.,. -1 -1 -1 -1 -1 -1 P2RX5-TAX1BP3;P2RX5 50_intron 23,.,. 0.521739,.,. P2RX5-TAX1BP3/intron/;P2RX5/intron/;P2RX5/non_coding/ 0.0000 0.8197 1.0710 5 dominant HG002 HG002 chr17:4047934:C:T 1,.,. -1 -1 -1 -1 -1 -1 ZZEF1 50_intron 33,.,. 0.393939,.,. ZZEF1/intron/;ZZEF1/non_coding/ 0.0000 0.4521 0.5170 1 dominant HG002 HG002 chr17:4573324:A:ATATGTGTGTGTGTG 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.375,.,. dominant HG002 HG002 chr17:4640632:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 ALOX15 50_intron 29,.,. 0.586207,.,. ALOX15/intron/;ALOX15/non_coding/ 0.0000 0.9100 1.1170 6 dominant HG002 HG002 chr17:4861190:G:A 1,.,. 1.97096e-05 0 3 -1 -1 -1 MINK1 50_intron 21,.,. 0.571429,.,. MINK1/intron/;MINK1/non_coding/ 1.0000 0.3150 0.4030 1 dominant HG002 HG002 chr17:4869271:T:A 1,.,. -1 -1 -1 -1 -1 -1 MINK1 50_intron 25,.,. 0.44,.,. MINK1/intron/;MINK1/non_coding/ 1.0000 0.3150 0.4030 1 recessive HG002 HG002 chr17:5052267:A:G 2,.,. 0.0033557 0 1 0.00105116 0 3 28,.,. 1,.,. dominant HG002 HG002 chr17:5342913:G:T 1,.,. -1 -1 -1 -1 -1 -1 RABEP1 50_intron 42,.,. 0.47619,.,. RABEP1/intron/;RABEP1/non_coding/ 0.9578 0.3767 0.4920 1 dominant HG002 HG002 chr17:5398145:TCAAGTG:T 1,.,. -1 -1 -1 -1 -1 -1 NUP88 50_intron 42,.,. 0.428571,.,. NUP88/intron/;NUP88/non_coding/ 0.0000 0.5779 0.7470 3 Fetal akinesia deformation sequence 4 0.000 recessive HG002 HG002 chr17:5511872:C:T 2,.,. -1 -1 -1 -1 -1 -1 NLRP1 50_intron 33,.,. 1,.,. NLRP1/intron/;NLRP1/non_coding/ 0.0000 0.7031 0.8350 3 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome;Autoinflammation with arthritis and dyskeratosis;Vitiligo-associated multiple autoimmune disease susceptibility 1;Respiratory papillomatosis, juvenile recurrent, congenital 0.000 recessive HG002 HG002 chr17:5511873:T:C 2,.,. -1 -1 -1 -1 -1 -1 NLRP1 50_intron 33,.,. 1,.,. NLRP1/intron/;NLRP1/non_coding/ 0.0000 0.7031 0.8350 3 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome;Autoinflammation with arthritis and dyskeratosis;Vitiligo-associated multiple autoimmune disease susceptibility 1;Respiratory papillomatosis, juvenile recurrent, congenital 0.000 recessive HG002 HG002 chr17:5511874:C:T 2,.,. -1 -1 -1 -1 -1 -1 NLRP1 50_intron 33,.,. 1,.,. NLRP1/intron/;NLRP1/non_coding/ 0.0000 0.7031 0.8350 3 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome;Autoinflammation with arthritis and dyskeratosis;Vitiligo-associated multiple autoimmune disease susceptibility 1;Respiratory papillomatosis, juvenile recurrent, congenital 0.000 dominant HG002 HG002 chr17:5655824:G:A 1,.,. 1.99758e-05 0 3 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr17:5707486:T:C 1,.,. 2.53237e-05 0 3 -1 -1 -1 26,.,. 0.692308,.,. dominant HG002 HG002 chr17:5811515:G:A 1,.,. 1.97161e-05 0 3 -1 -1 -1 AC007846.2 50_intron 44,.,. 0.363636,.,. AC007846.2/intron/ dominant HG002 HG002 chr17:6013458:C:A 1,.,. -1 -1 -1 -1 -1 -1 AC007846.2 50_intron 27,.,. 0.518519,.,. AC007846.2/intron/ dominant HG002 HG002 chr17:6013459:T:TTACACTC 1,.,. -1 -1 -1 -1 -1 -1 AC007846.2 50_intron 27,.,. 0.518519,.,. AC007846.2/intron/ dominant HG002 HG002 chr17:6066836:C:CTCTATCTA 1,.,. -1 -1 -1 -1 -1 -1 AC007846.2;WSCD1 50_intron 30,.,. 0.533333,.,. AC007846.2/intron/;WSCD1/non_coding/ 0.0000 0.6718 0.8810 4 dominant HG002 HG002 chr17:6095190:C:T 1,.,. 1.97083e-05 0 3 -1 -1 -1 WSCD1 30_synonymous 30,.,. 0.466667,.,. WSCD1/synonymous/ENST00000574946;WSCD1/synonymous/ENST00000573634;WSCD1/synonymous/ENST00000317744;WSCD1/synonymous/ENST00000574232;WSCD1/synonymous/ENST00000539421;WSCD1/3_prime_utr&NMD_transcript/ENST00000571494 0.0000 0.6718 0.8810 4 dominant HG002 HG002 chr17:6127468:C:CCTTTCTTTCTTT 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.366667,.,. dominant HG002 HG002 chr17:6302999:G:A 1,.,. 1.97145e-05 0 3 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr17:6308410:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.351351,.,. dominant HG002 HG002 chr17:6372110:A:AAGAAG 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr17:6372111:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr17:6561640:T:TTCCTCTTCCTCCTCCCCTCCCCC 1,.,. -1 -1 -1 -1 -1 -1 9,.,. 0.222222,.,. dominant HG002 HG002 chr17:6912097:G:GA 1,.,. 6.58233e-06 0 1 -1 -1 -1 ALOX12P2 53_non_coding 36,.,. 0.527778,.,. ALOX12P2/non_coding/ dominant HG002 HG002 chr17:6920652:A:G 1,.,. 1.31418e-05 0 2 -1 -1 -1 ALOX12P2 53_non_coding 44,.,. 0.454545,.,. ALOX12P2/non_coding/ dominant HG002 HG002 chr17:7005012:G:A 1,.,. 1.98224e-05 0 3 -1 -1 -1 ALOX12 50_intron 20,.,. 0.4,.,. ALOX12/intron/ 0.0000 0.7443 0.9210 4 dominant HG002 HG002 chr17:7010866:T:G 1,.,. 6.56918e-06 0 1 -1 -1 -1 24,.,. 0.625,.,. dominant HG002 HG002 chr17:7022835:C:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.461538,.,. dominant HG002 HG002 chr17:7040426:C:CCG 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.666667,.,. dominant HG002 HG002 chr17:7045398:TTATGTATGTATGTATG:T 1,.,. 0.000464037 0 4 -1 -1 -1 21,.,. 0.285714,.,. dominant HG002 HG002 chr17:7045416:A:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.285714,.,. recessive HG002 HG002 chr17:7059325:A:C 2,.,. 0.00046072 0 70 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr17:7071194:C:T 1,.,. 2.00091e-05 0 3 -1 -1 -1 29,.,. 0.344828,.,. dominant HG002 HG002 chr17:7108773:T:C 1,.,. 1.31513e-05 0 2 -1 -1 -1 ASGR2 20_splice_region 13,.,. 0.538462,.,. ASGR2/synonymous/ENST00000355035;ASGR2/synonymous/ENST00000446679;ASGR2/splice_region/ENST00000254850;ASGR2/synonymous/ENST00000254850;ASGR2/splice_region/ENST00000574868;ASGR2/synonymous/ENST00000574868 0.0000 1.0296 1.3650 7 dominant HG002 HG002 chr17:7221449:T:C 1,.,. 0.000122649 0 3 -1 -1 -1 ACADVL 50_intron 21,.,. 0.571429,.,. ACADVL/intron/;ACADVL/non_coding/ 0.0000 0.8861 1.0770 5 Very long chain acyl-CoA dehydrogenase deficiency 0.000 dominant HG002 HG002 chr17:7395690:AATAAGGCG:A 1,.,. 2.72498e-05 0 4 -1 -1 -1 TMEM256-PLSCR3 50_intron 30,.,. 0.633333,.,. TMEM256-PLSCR3/intron/ dominant HG002 HG002 chr17:7590582:A:T 1,.,. -1 -1 -1 -1 -1 -1 MPDU1 50_intron 23,.,. 0.565217,.,. MPDU1/intron/ 0.0000 0.6836 0.9840 4 MPDU1-congenital disorder of glycosylation 0.000 dominant HG002 HG002 chr17:7590583:C:A 1,.,. -1 -1 -1 -1 -1 -1 MPDU1 50_intron 23,.,. 0.565217,.,. MPDU1/intron/ 0.0000 0.6836 0.9840 4 MPDU1-congenital disorder of glycosylation 0.000 dominant HG002 HG002 chr17:7590584:TTAAGCCCTCCCAACTC:T 1,.,. -1 -1 -1 -1 -1 -1 MPDU1 50_intron 23,.,. 0.565217,.,. MPDU1/intron/ 0.0000 0.6836 0.9840 4 MPDU1-congenital disorder of glycosylation 0.000 dominant HG002 HG002 chr17:7590601:C:A 1,.,. -1 -1 -1 -1 -1 -1 MPDU1 50_intron 23,.,. 0.565217,.,. MPDU1/intron/ 0.0000 0.6836 0.9840 4 MPDU1-congenital disorder of glycosylation 0.000 dominant HG002 HG002 chr17:7640729:GTGCTGGCAGCCCTCACAGCCCTCGCT:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr17:7640757:G:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr17:7882269:A:G 1,.,. -1 -1 -1 -1 -1 -1 NAA38 50_intron 21,.,. 0.428571,.,. NAA38/intron/;NAA38/non_coding/ 0.0000 1.1553 1.7320 8 dominant HG002 HG002 chr17:8226577:A:T 1,.,. -1 -1 -1 0.00140154 0 4 CTC1 36_3_prime_utr 22,.,. 0.454545,.,. CTC1/3_prime_utr/ENST00000651323 0.0000 0.6486 0.7760 3 Cerebroretinal microangiopathy with calcifications and cysts 1 0.000 dominant HG002 HG002 chr17:8526626:ATAG:A 1,.,. -1 -1 -1 -1 -1 -1 MYH10 50_intron 35,.,. 0.571429,.,. MYH10/intron/ 1.0000 0.1936 0.2490 0 dominant HG002 HG002 chr17:8526630:C:G 1,.,. -1 -1 -1 -1 -1 -1 MYH10 50_intron 35,.,. 0.571429,.,. MYH10/intron/ 1.0000 0.1936 0.2490 0 recessive HG002 HG002 chr17:8728146:C:CCCAT 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr17:9059577:C:T 1,.,. -1 -1 -1 -1 -1 -1 NTN1 50_intron 32,.,. 0.375,.,. NTN1/intron/ 0.9982 0.2680 0.4440 1 Mirror movements 1;Mirror movements 4 0.000 dominant HG002 HG002 chr17:9228946:GTGAC:G 1,.,. -1 -1 -1 -1 -1 -1 NTN1 50_intron 36,.,. 0.555556,.,. NTN1/intron/ 0.9982 0.2680 0.4440 1 Mirror movements 1;Mirror movements 4 0.000 dominant HG002 HG002 chr17:9228951:T:A 1,.,. -1 -1 -1 -1 -1 -1 NTN1 50_intron 37,.,. 0.540541,.,. NTN1/intron/ 0.9982 0.2680 0.4440 1 Mirror movements 1;Mirror movements 4 0.000 dominant HG002 HG002 chr17:9230454:C:CCT 1,.,. 0.000120919 0 1 -1 -1 -1 NTN1 50_intron 35,.,. 0.514286,.,. NTN1/intron/ 0.9982 0.2680 0.4440 1 Mirror movements 1;Mirror movements 4 0.000 dominant HG002 HG002 chr17:9255307:ATC:A 1,.,. 6.60511e-06 0 1 -1 -1 -1 STX8 50_intron 36,.,. 0.388889,.,. STX8/intron/;STX8/non_coding/ 0.0001 0.6926 1.0270 5 dominant HG002 HG002 chr17:9255310:T:C 1,.,. -1 -1 -1 -1 -1 -1 STX8 50_intron 36,.,. 0.388889,.,. STX8/intron/;STX8/non_coding/ 0.0001 0.6926 1.0270 5 dominant HG002 HG002 chr17:9478950:T:C 1,.,. 2.62857e-05 0 4 -1 -1 -1 STX8 50_intron 40,.,. 0.425,.,. STX8/intron/;STX8/non_coding/ 0.0001 0.6926 1.0270 5 dominant HG002 HG002 chr17:9924569:T:TTCTGGATC 1,.,. -1 -1 -1 -1 -1 -1 GAS7 50_intron 27,.,. 0.518519,.,. GAS7/intron/;GAS7/non_coding/ 0.0241 0.4636 0.6740 2 dominant HG002 HG002 chr17:10406401:C:T 1,.,. -1 -1 -1 -1 -1 -1 MYH8 20_splice_region 41,.,. 0.463415,.,. MYH8/splice_region/ENST00000403437 0.0000 0.6892 0.7830 3 Hecht syndrome;Carney complex - trismus - pseudocamptodactyly syndrome 0.000 dominant HG002 HG002 chr17:10863167:T:C 1,.,. 1.31593e-05 0 2 -1 -1 -1 32,.,. 0.34375,.,. dominant HG002 HG002 chr17:11368304:A:AGTTTC 1,.,. -1 -1 -1 -1 -1 -1 SHISA6 50_intron 30,.,. 0.6,.,. SHISA6/intron/ 0.0241 0.4670 0.6850 2 dominant HG002 HG002 chr17:11368305:C:A 1,.,. -1 -1 -1 -1 -1 -1 SHISA6 50_intron 30,.,. 0.6,.,. SHISA6/intron/ 0.0241 0.4670 0.6850 2 dominant HG002 HG002 chr17:11629857:C:A 1,.,. 2.62888e-05 0 4 -1 -1 -1 DNAH9 50_intron 26,.,. 0.461538,.,. DNAH9/intron/;DNAH9/non_coding/ 0.0000 0.7070 0.7750 3 Ciliary dyskinesia, primary, 40 0.000 dominant HG002 HG002 chr17:11629858:T:G 1,.,. 2.62843e-05 0 4 -1 -1 -1 DNAH9 50_intron 26,.,. 0.461538,.,. DNAH9/intron/;DNAH9/non_coding/ 0.0000 0.7070 0.7750 3 Ciliary dyskinesia, primary, 40 0.000 recessive HG002 HG002 chr17:11711895:A:T 2,.,. 0.00523771 0 13 0.0024527 0 7 DNAH9 50_intron 40,.,. 1,.,. DNAH9/intron/ 0.0000 0.7070 0.7750 3 Ciliary dyskinesia, primary, 40 0.000 dominant HG002 HG002 chr17:11734280:G:A 1,.,. 6.57263e-06 0 1 -1 -1 -1 DNAH9 50_intron 33,.,. 0.393939,.,. DNAH9/intron/ 0.0000 0.7070 0.7750 3 Ciliary dyskinesia, primary, 40 0.000 recessive HG002 HG002 chr17:11749086:G:T 2,.,. -1 -1 -1 0.00140154 0 4 DNAH9 50_intron 37,.,. 1,.,. DNAH9/intron/ 0.0000 0.7070 0.7750 3 Ciliary dyskinesia, primary, 40 0.000 dominant HG002 HG002 chr17:11761178:TTCTAGTCACACA:T 1,.,. -1 -1 -1 -1 -1 -1 DNAH9 50_intron 33,.,. 0.515152,.,. DNAH9/intron/ 0.0000 0.7070 0.7750 3 Ciliary dyskinesia, primary, 40 0.000 dominant HG002 HG002 chr17:11761191:G:A 1,.,. -1 -1 -1 -1 -1 -1 DNAH9 50_intron 33,.,. 0.515152,.,. DNAH9/intron/ 0.0000 0.7070 0.7750 3 Ciliary dyskinesia, primary, 40 0.000 dominant HG002 HG002 chr17:11761192:T:A 1,.,. -1 -1 -1 -1 -1 -1 DNAH9 50_intron 33,.,. 0.515152,.,. DNAH9/intron/ 0.0000 0.7070 0.7750 3 Ciliary dyskinesia, primary, 40 0.000 dominant HG002 HG002 chr17:12042400:G:T 1,.,. -1 -1 -1 -1 -1 -1 MAP2K4 50_intron 40,.,. 0.5,.,. MAP2K4/intron/;MAP2K4/non_coding/ 1.0000 0.0685 0.2160 0 dominant HG002 HG002 chr17:12308162:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.465116,.,. recessive HG002 HG002 chr17:12410574:T:C 2,.,. 9.73277e-05 0 14 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr17:12595895:ATTATTATTATC:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr17:12595908:T:C 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.428571,.,. dominant HG002 HG002 chr17:12612018:A:ACACT 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.59375,.,. dominant HG002 HG002 chr17:12612019:A:G 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.575758,.,. dominant HG002 HG002 chr17:12645970:A:G 1,.,. -1 -1 -1 0.000700771 0 2 24,.,. 0.625,.,. dominant HG002 HG002 chr17:12882012:T:A 1,.,. -1 -1 -1 -1 -1 -1 ARHGAP44 50_intron 46,.,. 0.5,.,. ARHGAP44/intron/;ARHGAP44/non_coding/ 0.0011 0.4644 0.6050 2 dominant HG002 HG002 chr17:13361421:G:A 1,.,. 6.57341e-06 0 1 -1 -1 -1 32,.,. 0.59375,.,. dominant HG002 HG002 chr17:13776539:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.611111,.,. dominant HG002 HG002 chr17:13776542:T:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.611111,.,. dominant HG002 HG002 chr17:14033728:A:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. recessive HG002 HG002 chr17:14294419:AATT:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:14294423:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:14795967:A:AACAC 2,.,. 0.00996237 1 323 0.00105116 0 3 40,.,. 1,.,. recessive HG002 HG002 chr17:14795990:C:A 2,.,. 0.00421998 1 624 0.00280308 0 8 44,.,. 1,.,. dominant HG002 HG002 chr17:14974459:T:C 1,.,. 1.31555e-05 0 2 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr17:15108141:TGTTTTTTGTTTTTTG:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr17:15282393:T:C 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.55814,.,. dominant HG002 HG002 chr17:16008407:A:G 1,.,. -1 -1 -1 -1 -1 -1 TTC19 50_intron 37,.,. 0.486486,.,. TTC19/intron/;TTC19/non_coding/ 0.0000 0.7845 1.0490 5 Mitochondrial complex III deficiency nuclear type 2 0.000 dominant HG002 HG002 chr17:16872979:GGT:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr17:16872985:A:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr17:17042442:CGCCCGCCCG:C 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.5,.,. dominant HG002 HG002 chr17:17234212:T:G 1,.,. -1 -1 -1 -1 -1 -1 AC055811.2;FLCN 50_intron 28,.,. 0.464286,.,. AC055811.2/intron/;FLCN/intron/;FLCN/non_coding/ 0.9891 0.3384 0.4870 1 Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome 1;Birt-Hogg-Dube syndrome;Colorectal cancer 0.000 dominant HG002 HG002 chr17:17234215:T:G 1,.,. -1 -1 -1 -1 -1 -1 AC055811.2;FLCN 50_intron 29,.,. 0.448276,.,. AC055811.2/intron/;FLCN/intron/;FLCN/non_coding/ 0.9891 0.3384 0.4870 1 Familial spontaneous pneumothorax;17p11.2 microduplication syndrome;Nonpapillary renal cell carcinoma;Birt-Hogg-Dube syndrome 1;Birt-Hogg-Dube syndrome;Colorectal cancer 0.000 dominant HG002 HG002 chr17:17280547:AAC:A 1,.,. -1 -1 -1 0.00105116 0 3 COPS3 50_intron 24,.,. 0.375,.,. COPS3/intron/;COPS3/non_coding/ 1.0000 0.2050 0.3480 0 dominant HG002 HG002 chr17:17295087:TGA:T 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr17:17295090:T:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr17:17442516:C:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5625,.,. dominant HG002 HG002 chr17:17442720:C:A 1,.,. -1 -1 -1 0.000700771 0 2 31,.,. 0.580645,.,. recessive HG002 HG002 chr17:17783071:T:TGTGGGG 2,.,. -1 -1 -1 -1 -1 -1 RAI1 50_intron 20,.,. 1,.,. RAI1/intron/ 1.0000 0.0737 0.1290 0 Smith-Magenis syndrome;17p11.2 microduplication syndrome 0.000 recessive HG002 HG002 chr17:17783074:T:C 2,.,. -1 -1 -1 -1 -1 -1 RAI1 50_intron 21,.,. 1,.,. RAI1/intron/ 1.0000 0.0737 0.1290 0 Smith-Magenis syndrome;17p11.2 microduplication syndrome 0.000 recessive HG002 HG002 chr17:17783075:G:C 2,.,. -1 -1 -1 -1 -1 -1 RAI1 50_intron 21,.,. 1,.,. RAI1/intron/ 1.0000 0.0737 0.1290 0 Smith-Magenis syndrome;17p11.2 microduplication syndrome 0.000 dominant HG002 HG002 chr17:18339041:A:C 1,.,. -1 -1 -1 -1 -1 -1 SHMT1 50_intron 29,.,. 0.448276,.,. SHMT1/intron/;SHMT1/non_coding/ 0.0000 0.8056 1.0770 5 recessive HG002 HG002 chr17:18411117:G:GCCCTTTCCCTCCCCT 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:18411121:T:C 2,.,. -1 -1 -1 0.000700771 0 2 24,.,. 1,.,. dominant HG002 HG002 chr17:18453297:T:C 1,.,. -1 -1 -1 -1 -1 -1 KRT16P4 53_non_coding 19,.,. 0.578947,.,. KRT16P4/non_coding/ recessive HG002 HG002 chr17:18833568:G:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:18838165:A:AATAAT 2,.,. -1 -1 -1 -1 -1 -1 AC107982.1 53_non_coding 15,.,. 1,.,. AC107982.1/non_coding/ recessive HG002 HG002 chr17:18838169:T:A 2,.,. -1 -1 -1 -1 -1 -1 AC107982.1 53_non_coding 15,.,. 1,.,. AC107982.1/non_coding/ recessive HG002 HG002 chr17:18897453:G:T 2,.,. 0.00132806 1 200 0.0220743 1 63 PRPSAP2 50_intron 35,.,. 1,.,. PRPSAP2/intron/;PRPSAP2/non_coding/ 0.0047 0.5239 0.7860 3 recessive HG002 HG002 chr17:19061928:G:A 2,.,. -1 -1 -1 0.00280308 1 8 SNORD3B-1 53_non_coding 12,.,. 1,.,. SNORD3B-1/non_coding/ dominant HG002 HG002 chr17:19350845:C:CT 1,.,. -1 -1 -1 0.00140154 0 4 B9D1 50_intron 24,.,. 0.458333,.,. B9D1/intron/ 0.0001 0.6823 1.0230 5 Joubert syndrome 27;Meckel syndrome, type 9 0.000 dominant HG002 HG002 chr17:19863150:G:A 1,.,. -1 -1 -1 -1 -1 -1 ULK2 50_intron 19,.,. 0.421053,.,. ULK2/intron/ 0.0000 0.6230 0.7660 3 recessive HG002 HG002 chr17:20250884:T:TTTA 2,.,. -1 -1 -1 -1 -1 -1 SPECC1 50_intron 29,.,. 1,.,. SPECC1/intron/ 0.0000 0.6063 0.7520 3 recessive HG002 HG002 chr17:20250886:A:C 2,.,. -1 -1 -1 -1 -1 -1 SPECC1 50_intron 29,.,. 1,.,. SPECC1/intron/ 0.0000 0.6063 0.7520 3 recessive HG002 HG002 chr17:20638106:CTGA:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:20638110:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr17:20897959:G:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.574468,.,. dominant HG002 HG002 chr17:21087247:G:A 1,.,. -1 -1 -1 0.00105116 0 3 38,.,. 0.421053,.,. dominant HG002 HG002 chr17:21127778:G:A 1,.,. -1 -1 -1 -1 -1 -1 DHRS7B 50_intron 28,.,. 0.642857,.,. DHRS7B/intron/;DHRS7B/non_coding/ 0.0000 0.8382 1.1790 6 dominant HG002 HG002 chr17:21394703:G:A 1,.,. 1.31425e-05 0 2 -1 -1 -1 KCNJ12 50_intron 25,.,. 0.4,.,. KCNJ12/intron/ 0.9954 0.1171 0.3690 0 dominant HG002 HG002 chr17:21490459:T:TTTTATTTTAC 1,.,. 5.29998e-05 0 2 -1 -1 -1 35,.,. 0.428571,.,. dominant HG002 HG002 chr17:21644961:C:T 1,.,. -1 -1 -1 0.00105116 0 3 46,.,. 0.369565,.,. recessive HG002 HG002 chr17:21754087:T:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr17:22151374:A:C 1,.,. -1 -1 -1 -1 -1 -1 UBBP4 53_non_coding 87,.,. 0.494253,.,. UBBP4/non_coding/ dominant HG002 HG002 chr17:22725523:C:T 1,.,. 6.60816e-06 0 1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr17:22738311:C:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. recessive HG002 HG002 chr17:22815095:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:22815853:G:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:22818179:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:22818232:G:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:22821768:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:23006712:A:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:23007250:A:C 2,.,. -1 -1 -1 0.00350385 3 10 8,.,. 1,.,. recessive HG002 HG002 chr17:23007309:A:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:23007637:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:23008022:C:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:23008420:T:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23008596:C:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23008618:G:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23009091:A:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:23014630:G:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:23063292:G:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.98,.,. recessive HG002 HG002 chr17:23065618:T:A 2,.,. -1 -1 -1 -1 -1 -1 234,.,. 0.995726,.,. recessive HG002 HG002 chr17:23066193:G:T 2,.,. -1 -1 -1 -1 -1 -1 243,.,. 1,.,. recessive HG002 HG002 chr17:23066227:A:C 2,.,. -1 -1 -1 -1 -1 -1 243,.,. 1,.,. recessive HG002 HG002 chr17:23067435:T:A 2,.,. -1 -1 -1 -1 -1 -1 274,.,. 1,.,. recessive HG002 HG002 chr17:23067959:A:T 2,.,. -1 -1 -1 -1 -1 -1 369,.,. 1,.,. recessive HG002 HG002 chr17:23067963:C:T 2,.,. -1 -1 -1 -1 -1 -1 367,.,. 1,.,. recessive HG002 HG002 chr17:23067975:T:A 2,.,. -1 -1 -1 -1 -1 -1 372,.,. 1,.,. recessive HG002 HG002 chr17:23067992:A:T 2,.,. -1 -1 -1 -1 -1 -1 371,.,. 1,.,. recessive HG002 HG002 chr17:23067997:T:A 2,.,. -1 -1 -1 -1 -1 -1 370,.,. 0.997297,.,. recessive HG002 HG002 chr17:23068005:G:C 2,.,. -1 -1 -1 -1 -1 -1 361,.,. 1,.,. recessive HG002 HG002 chr17:23068013:T:C 2,.,. -1 -1 -1 -1 -1 -1 373,.,. 1,.,. recessive HG002 HG002 chr17:23068035:T:C 2,.,. -1 -1 -1 -1 -1 -1 374,.,. 1,.,. recessive HG002 HG002 chr17:23068050:G:C 2,.,. -1 -1 -1 -1 -1 -1 373,.,. 1,.,. recessive HG002 HG002 chr17:23069354:G:A 2,.,. -1 -1 -1 -1 -1 -1 418,.,. 0.988038,.,. recessive HG002 HG002 chr17:23069395:G:T 2,.,. -1 -1 -1 -1 -1 -1 415,.,. 0.99759,.,. recessive HG002 HG002 chr17:23069398:G:C 2,.,. -1 -1 -1 -1 -1 -1 432,.,. 1,.,. recessive HG002 HG002 chr17:23070342:C:T 2,.,. -1 -1 -1 -1 -1 -1 339,.,. 0.99705,.,. recessive HG002 HG002 chr17:23070376:T:A 2,.,. -1 -1 -1 -1 -1 -1 345,.,. 0.994203,.,. recessive HG002 HG002 chr17:23070392:T:C 2,.,. -1 -1 -1 -1 -1 -1 345,.,. 0.997101,.,. recessive HG002 HG002 chr17:23070414:T:C 2,.,. -1 -1 -1 -1 -1 -1 345,.,. 0.997101,.,. recessive HG002 HG002 chr17:23070429:G:C 2,.,. -1 -1 -1 -1 -1 -1 342,.,. 0.994152,.,. recessive HG002 HG002 chr17:23070442:G:C 2,.,. -1 -1 -1 -1 -1 -1 345,.,. 0.997101,.,. recessive HG002 HG002 chr17:23070454:T:C 2,.,. -1 -1 -1 -1 -1 -1 345,.,. 1,.,. recessive HG002 HG002 chr17:23070824:C:T 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 0.991279,.,. recessive HG002 HG002 chr17:23071754:G:C 2,.,. -1 -1 -1 -1 -1 -1 303,.,. 0.993399,.,. recessive HG002 HG002 chr17:23071755:A:T 2,.,. -1 -1 -1 -1 -1 -1 318,.,. 0.993711,.,. recessive HG002 HG002 chr17:23071774:G:T 2,.,. -1 -1 -1 -1 -1 -1 303,.,. 0.993399,.,. recessive HG002 HG002 chr17:23071966:G:A 2,.,. -1 -1 -1 -1 -1 -1 309,.,. 0.987055,.,. recessive HG002 HG002 chr17:23072049:T:C 2,.,. -1 -1 -1 -1 -1 -1 292,.,. 0.993151,.,. recessive HG002 HG002 chr17:23072083:T:C 2,.,. -1 -1 -1 -1 -1 -1 292,.,. 0.993151,.,. recessive HG002 HG002 chr17:23072241:G:T 2,.,. -1 -1 -1 -1 -1 -1 298,.,. 0.993289,.,. recessive HG002 HG002 chr17:23072469:C:T 2,.,. -1 -1 -1 -1 -1 -1 295,.,. 0.99322,.,. recessive HG002 HG002 chr17:23072475:C:T 2,.,. -1 -1 -1 -1 -1 -1 288,.,. 0.993056,.,. recessive HG002 HG002 chr17:23072485:C:T 2,.,. -1 -1 -1 -1 -1 -1 296,.,. 1,.,. recessive HG002 HG002 chr17:23072756:T:A 2,.,. -1 -1 -1 -1 -1 -1 271,.,. 0.98893,.,. recessive HG002 HG002 chr17:23072764:G:C 2,.,. -1 -1 -1 -1 -1 -1 269,.,. 0.992565,.,. recessive HG002 HG002 chr17:23072809:G:C 2,.,. -1 -1 -1 -1 -1 -1 272,.,. 0.992647,.,. recessive HG002 HG002 chr17:23073204:C:T 2,.,. -1 -1 -1 -1 -1 -1 272,.,. 0.992647,.,. recessive HG002 HG002 chr17:23073227:C:T 2,.,. -1 -1 -1 -1 -1 -1 272,.,. 0.992647,.,. recessive HG002 HG002 chr17:23073322:G:T 2,.,. -1 -1 -1 -1 -1 -1 265,.,. 0.988679,.,. recessive HG002 HG002 chr17:23074574:T:A 2,.,. -1 -1 -1 -1 -1 -1 244,.,. 0.991803,.,. recessive HG002 HG002 chr17:23074621:G:T 2,.,. -1 -1 -1 0.00280308 4 8 243,.,. 0.99177,.,. recessive HG002 HG002 chr17:23074638:G:C 2,.,. -1 -1 -1 0.00210231 3 6 226,.,. 0.995575,.,. recessive HG002 HG002 chr17:23074720:C:T 2,.,. -1 -1 -1 -1 -1 -1 223,.,. 0.991031,.,. recessive HG002 HG002 chr17:23074743:GC:G 2,.,. -1 -1 -1 0.00280308 4 8 237,.,. 0.987342,.,. recessive HG002 HG002 chr17:23074766:T:G 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 0.99095,.,. recessive HG002 HG002 chr17:23074791:G:A 2,.,. -1 -1 -1 -1 -1 -1 223,.,. 0.986547,.,. recessive HG002 HG002 chr17:23074840:G:A 2,.,. -1 -1 -1 -1 -1 -1 237,.,. 0.983122,.,. recessive HG002 HG002 chr17:23074850:C:T 2,.,. -1 -1 -1 -1 -1 -1 237,.,. 0.991561,.,. recessive HG002 HG002 chr17:23075024:C:T 2,.,. -1 -1 -1 0.00140154 2 4 218,.,. 0.995413,.,. recessive HG002 HG002 chr17:23075075:C:G 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.995434,.,. recessive HG002 HG002 chr17:23075103:C:T 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 0.995215,.,. recessive HG002 HG002 chr17:23075132:A:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.990868,.,. recessive HG002 HG002 chr17:23075220:C:G 2,.,. -1 -1 -1 -1 -1 -1 223,.,. 0.995516,.,. recessive HG002 HG002 chr17:23075242:G:C 2,.,. -1 -1 -1 -1 -1 -1 222,.,. 0.995495,.,. recessive HG002 HG002 chr17:23075297:A:G 2,.,. -1 -1 -1 -1 -1 -1 224,.,. 0.995536,.,. recessive HG002 HG002 chr17:23075705:G:T 2,.,. -1 -1 -1 0.00210231 3 6 214,.,. 0.995327,.,. recessive HG002 HG002 chr17:23075714:G:T 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.995305,.,. recessive HG002 HG002 chr17:23076004:A:C 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 0.995261,.,. recessive HG002 HG002 chr17:23076036:G:A 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 0.995261,.,. recessive HG002 HG002 chr17:23076710:C:A 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 0.989796,.,. recessive HG002 HG002 chr17:23076958:T:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.984848,.,. recessive HG002 HG002 chr17:23077020:C:G 2,.,. -1 -1 -1 0.00210231 3 6 192,.,. 0.984375,.,. recessive HG002 HG002 chr17:23077233:C:T 2,.,. -1 -1 -1 0.00210231 3 6 190,.,. 0.984211,.,. recessive HG002 HG002 chr17:23077239:C:T 2,.,. -1 -1 -1 0.00210231 3 6 187,.,. 0.983957,.,. recessive HG002 HG002 chr17:23077603:C:G 2,.,. -1 -1 -1 0.00280308 4 8 109,.,. 0.981651,.,. recessive HG002 HG002 chr17:23077979:C:T 2,.,. -1 -1 -1 0.00315347 3 9 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:23080074:G:C 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:23116074:T:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:23118455:T:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23119727:G:T 2,.,. -1 -1 -1 0.00140154 2 4 10,.,. 1,.,. recessive HG002 HG002 chr17:23119739:A:T 2,.,. -1 -1 -1 0.00140154 2 4 10,.,. 1,.,. recessive HG002 HG002 chr17:23120834:T:C 2,.,. -1 -1 -1 0.00210231 3 6 8,.,. 1,.,. recessive HG002 HG002 chr17:23121448:T:C 2,.,. -1 -1 -1 0.00140154 2 4 8,.,. 1,.,. recessive HG002 HG002 chr17:23122105:G:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23122423:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:23122512:C:G 2,.,. -1 -1 -1 0.00140154 2 4 8,.,. 1,.,. recessive HG002 HG002 chr17:23123043:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:23123109:C:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:23123130:G:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:23123213:T:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23123357:T:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:23123548:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23123616:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:23123622:G:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:23123632:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:23123735:C:T 2,.,. -1 -1 -1 0.00105116 1 3 9,.,. 1,.,. recessive HG002 HG002 chr17:23124246:A:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:23161767:T:C 2,.,. -1 -1 -1 0.00280308 4 8 8,.,. 1,.,. recessive HG002 HG002 chr17:23187550:G:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 0.984375,.,. recessive HG002 HG002 chr17:23187559:G:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 0.984375,.,. recessive HG002 HG002 chr17:23187562:A:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 0.984375,.,. recessive HG002 HG002 chr17:23187612:C:A 2,.,. -1 -1 -1 0.00280308 4 8 64,.,. 0.984375,.,. recessive HG002 HG002 chr17:23188658:T:C 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 0.985915,.,. recessive HG002 HG002 chr17:23188692:T:C 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 0.985714,.,. recessive HG002 HG002 chr17:23188722:T:C 2,.,. -1 -1 -1 0.00140154 2 4 70,.,. 0.985714,.,. recessive HG002 HG002 chr17:23188792:A:G 2,.,. -1 -1 -1 0.00280308 4 8 69,.,. 0.985507,.,. recessive HG002 HG002 chr17:23190081:A:G 2,.,. -1 -1 -1 0.00280308 4 8 71,.,. 0.985915,.,. recessive HG002 HG002 chr17:23191170:A:G 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:23191795:G:C 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23192153:G:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:23192233:T:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:23192257:T:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:23192300:G:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:23192327:A:G 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:23192432:C:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23192460:A:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:23244020:G:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:23244310:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:23244520:G:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:23244928:A:T 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:23245007:A:T 2,.,. -1 -1 -1 -1 -1 -1 123,.,. 1,.,. recessive HG002 HG002 chr17:23245105:A:T 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:23245164:G:T 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:23245177:G:T 2,.,. -1 -1 -1 -1 -1 -1 123,.,. 1,.,. recessive HG002 HG002 chr17:23245197:G:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:23245259:T:A 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:23245287:C:A 2,.,. -1 -1 -1 -1 -1 -1 123,.,. 1,.,. recessive HG002 HG002 chr17:23245313:T:A 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:23245329:A:C 2,.,. -1 -1 -1 -1 -1 -1 122,.,. 1,.,. recessive HG002 HG002 chr17:23245332:C:T 2,.,. -1 -1 -1 -1 -1 -1 122,.,. 1,.,. recessive HG002 HG002 chr17:23245400:A:C 2,.,. -1 -1 -1 -1 -1 -1 122,.,. 0.991803,.,. recessive HG002 HG002 chr17:23245483:G:C 2,.,. -1 -1 -1 -1 -1 -1 123,.,. 0.99187,.,. recessive HG002 HG002 chr17:23245578:A:T 2,.,. -1 -1 -1 -1 -1 -1 123,.,. 0.99187,.,. recessive HG002 HG002 chr17:23245630:T:A 2,.,. -1 -1 -1 -1 -1 -1 123,.,. 1,.,. recessive HG002 HG002 chr17:23245634:T:C 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:23245644:C:A 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:23245652:T:G 2,.,. -1 -1 -1 -1 -1 -1 123,.,. 1,.,. recessive HG002 HG002 chr17:23245653:C:A 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:23245659:G:C 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:23245665:C:G 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:23245672:T:C 2,.,. -1 -1 -1 -1 -1 -1 123,.,. 1,.,. recessive HG002 HG002 chr17:23245677:C:T 2,.,. -1 -1 -1 -1 -1 -1 122,.,. 1,.,. recessive HG002 HG002 chr17:23245685:T:C 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:23245686:G:T 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:23245698:G:A 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:23245770:G:C 2,.,. -1 -1 -1 -1 -1 -1 123,.,. 1,.,. recessive HG002 HG002 chr17:23245777:C:A 2,.,. -1 -1 -1 -1 -1 -1 123,.,. 1,.,. recessive HG002 HG002 chr17:23245833:A:T 2,.,. -1 -1 -1 -1 -1 -1 123,.,. 1,.,. recessive HG002 HG002 chr17:23245866:G:A 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:23245885:G:T 2,.,. -1 -1 -1 -1 -1 -1 123,.,. 1,.,. recessive HG002 HG002 chr17:23246298:G:T 2,.,. -1 -1 -1 -1 -1 -1 125,.,. 1,.,. recessive HG002 HG002 chr17:23246309:A:T 2,.,. -1 -1 -1 -1 -1 -1 125,.,. 1,.,. recessive HG002 HG002 chr17:23246319:C:A 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:23246341:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:23246357:G:T 2,.,. -1 -1 -1 -1 -1 -1 125,.,. 1,.,. recessive HG002 HG002 chr17:23246369:G:T 2,.,. -1 -1 -1 -1 -1 -1 125,.,. 1,.,. recessive HG002 HG002 chr17:23246374:G:A 2,.,. -1 -1 -1 -1 -1 -1 125,.,. 1,.,. recessive HG002 HG002 chr17:23246419:T:A 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:23246436:T:C 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:23246453:T:A 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:23246494:C:A 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:23246562:G:A 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:23246613:T:A 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:23246637:G:A 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 1,.,. recessive HG002 HG002 chr17:23246667:G:A 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:23246678:C:T 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:23246691:C:A 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:23246728:G:T 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:23246735:G:T 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:23246737:A:G 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 1,.,. recessive HG002 HG002 chr17:23246770:C:T 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:23246808:T:A 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 0.991453,.,. recessive HG002 HG002 chr17:23246968:T:A 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:23246987:G:T 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:23247025:G:T 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:23247071:C:G 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 1,.,. recessive HG002 HG002 chr17:23247235:G:T 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 0.991525,.,. recessive HG002 HG002 chr17:23247643:A:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:23247722:A:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:23247820:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:23247879:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23247922:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23247994:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23248028:T:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23248128:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23249450:G:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:23249627:A:G 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:23260055:C:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23260646:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:23262843:G:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23290228:A:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:23315691:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:23316289:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:23316698:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:23317083:T:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:23317170:A:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:23317183:C:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:23317421:T:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:23317422:C:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:23317425:G:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:23317434:C:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:23317454:T:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:23317539:G:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:23317597:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:23317602:A:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:23318126:G:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:23318406:G:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:23318504:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:23318558:T:G 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:23318656:G:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:23319003:G:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:23319411:A:T 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chr17:23362044:G:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:23362301:GC:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:23362303:C:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:23362616:T:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:23363131:T:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:23363425:C:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:23364104:G:C 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:23364495:G:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:23364995:G:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:23365331:T:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:23365846:T:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:23366506:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:23366525:C:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:23367209:G:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:23384913:T:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:23385298:C:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:23385461:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:23386368:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:23386869:G:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:23387277:A:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:23387978:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23388352:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23389990:A:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23411864:T:TA 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23411918:A:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23411943:G:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:23411986:G:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23412067:T:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:23412086:C:T 2,.,. -1 -1 -1 0.0024527 2 7 13,.,. 1,.,. recessive HG002 HG002 chr17:23412110:C:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23412657:T:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23412950:C:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23413292:G:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23413629:G:C 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23413962:A:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23414020:G:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23414284:G:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23414285:G:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23414766:G:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23414769:C:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23414801:C:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23414802:T:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23430304:C:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:23430598:G:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:23430989:G:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:23431489:G:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:23432248:T:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23432340:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23435326:A:C 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:23436760:C:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:23436818:A:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:23437722:A:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23438451:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:23438502:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:23439124:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23439532:A:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23440900:G:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23441911:A:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23442019:G:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23442147:G:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:23442226:T:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:23443394:A:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:23443715:G:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:23443892:A:G 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:23461383:G:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23608147:T:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23608210:C:A 2,.,. -1 -1 -1 0.0024527 2 7 18,.,. 1,.,. recessive HG002 HG002 chr17:23608232:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23608376:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23608388:G:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23608687:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23608721:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23608760:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23608779:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23609044:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23609224:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23609256:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23609263:T:C 2,.,. -1 -1 -1 0.00420463 0 12 18,.,. 1,.,. recessive HG002 HG002 chr17:23609279:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23609541:T:C 2,.,. -1 -1 -1 0.0189208 0 54 18,.,. 1,.,. recessive HG002 HG002 chr17:23609561:T:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23609587:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23609741:T:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23609967:G:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23610073:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23610131:T:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23610137:G:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23610325:T:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23610359:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23610425:C:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23610659:A:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23610702:A:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23610768:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23610840:T:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:23610857:T:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:23611104:G:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23611437:A:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:23611495:G:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23611672:A:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23611708:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23612090:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23612106:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:23612238:G:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:23612310:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23612405:A:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:23612720:T:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:23612790:T:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23612890:C:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:23613130:C:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:23613142:C:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:23614389:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:23614502:G:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:23615025:G:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:23616928:G:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:23633504:G:C 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive 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recessive HG002 HG002 chr17:23769522:G:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:23769818:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:23769891:T:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:23770009:T:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:23777519:C:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23818953:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23818960:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23818971:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23818995:T:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:23819005:T:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23819010:A:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23819040:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23819047:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23819058:A:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.981132,.,. recessive HG002 HG002 chr17:23819073:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23819110:T:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:23819262:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:23819301:T:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:23819354:G:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:23819444:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:23819449:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23819528:T:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23819569:C:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23819637:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23819695:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23819793:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23819926:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23820017:T:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23820211:T:G 2,.,. -1 -1 -1 0.01822 4 52 70,.,. 1,.,. recessive HG002 HG002 chr17:23820220:C:T 2,.,. -1 -1 -1 0.00315347 4 9 70,.,. 1,.,. recessive HG002 HG002 chr17:23820227:C:T 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:23820235:C:T 2,.,. -1 -1 -1 0.00210231 3 6 70,.,. 1,.,. recessive HG002 HG002 chr17:23820245:C:A 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:23820248:A:C 2,.,. -1 -1 -1 0.00140154 2 4 70,.,. 1,.,. recessive HG002 HG002 chr17:23820255:G:T 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:23820277:G:C 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820354:A:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820392:C:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820424:C:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820457:A:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820487:T:G 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:23820555:A:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820557:C:A 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820575:C:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820617:T:A 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820624:G:A 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820639:A:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820651:T:C 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820652:A:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820719:A:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820777:G:A 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820787:C:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820798:A:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:23820820:T:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820874:A:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820911:C:A 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820938:C:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820944:C:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820958:A:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820963:T:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:23820988:G:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23820998:G:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23821028:G:A 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23821034:T:C 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:23821048:A:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23821071:T:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23821078:C:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23821089:C:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:23821145:A:G 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:23821159:C:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23821218:T:C 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23821241:T:C 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:23821333:T:G 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:23821344:T:C 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23821354:G:T 2,.,. -1 -1 -1 0.00280308 4 8 68,.,. 1,.,. recessive HG002 HG002 chr17:23821367:G:A 2,.,. -1 -1 -1 0.00280308 4 8 68,.,. 1,.,. recessive HG002 HG002 chr17:23821645:T:A 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23821668:C:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23821675:G:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23821686:C:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:23821709:A:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23821720:T:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23821755:G:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:23821762:T:C 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23821773:A:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:23821788:C:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23821919:A:C 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23821936:A:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23821970:G:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23821977:G:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23821983:G:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23821988:A:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23821993:T:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23822013:T:G 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822016:T:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822026:C:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23822052:A:G 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822058:C:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:23822069:G:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822079:T:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:23822137:A:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23822158:T:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822164:G:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822180:G:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822243:T:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822274:T:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822333:C:G 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822339:T:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822351:C:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822352:G:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822376:G:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822410:T:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822434:T:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822495:T:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822508:C:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822573:A:G 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822613:T:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822626:C:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822633:T:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23822732:T:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23822942:C:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:23822992:G:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:23823354:A:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:23856245:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:23856866:T:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:23856920:C:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:23857009:T:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:23857472:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23857538:A:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23857546:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23857592:G:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23857774:G:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23857790:T:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23857853:T:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23857856:A:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23857858:A:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23857923:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23857931:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23857937:A:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23857961:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23857962:A:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23858023:C:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23858261:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23858274:C:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23858379:G:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23858437:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23858456:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23858508:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23858512:G:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23858515:T:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23858520:C:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23858531:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:23858740:A:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23858756:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23858759:G:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23858802:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23858966:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23859021:A:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:23859036:A:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23859229:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23859294:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23859324:T:C 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:23859844:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:23859850:A:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:23859854:C:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:23860181:A:G 2,.,. -1 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recessive HG002 HG002 chr17:23861229:T:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23861470:G:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23861473:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23861489:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23861503:G:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23861516:G:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23861642:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23861680:G:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23861735:A:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23861750:A:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23861761:G:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:23861931:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23861943:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23862008:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23862014:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23862038:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23862039:G:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23862060:A:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23862273:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23862571:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23862901:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23862967:G:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23863013:G:C 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:23863180:C:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23863199:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23863202:T:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23863213:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23863224:T:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:23863225:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23863246:G:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23863297:G:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:23863354:C:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:23863430:G:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:23863433:T:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:23863578:C:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:23863846:C:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:23863946:T:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:23863987:A:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 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recessive HG002 HG002 chr17:23865407:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865530:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865556:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865575:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865591:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865593:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865619:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865633:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865680:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865727:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:23865855:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865872:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865886:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865894:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865895:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865901:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865907:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865914:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865927:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865940:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23865968:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23866012:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23866019:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23866062:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23866070:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23866075:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23866087:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23866127:G:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:23866561:C:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866565:A:C 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866599:G:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866616:G:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866654:A:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:23866661:T:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:23866672:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:23866678:T:C 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866695:T:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866712:T:C 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866722:T:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866736:C:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866767:C:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:23866787:A:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866803:C:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866804:G:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866835:A:C 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866850:C:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866855:T:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866879:G:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866894:C:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866909:G:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866920:C:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866933:C:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866947:T:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866954:C:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 0.983871,.,. recessive HG002 HG002 chr17:23866977:G:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:23866979:A:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:23866982:C:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866993:A:C 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23866994:T:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:23867006:C:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23867012:C:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23867104:T:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:23867108:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr17:23867127:C:T 2,.,. -1 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chr17:23867975:G:C 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 0.985294,.,. recessive HG002 HG002 chr17:23868062:A:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23868084:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23868121:G:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:23868154:G:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:23868244:C:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:23868270:T:A 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:23868289:C:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:23868307:C:G 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:23868591:T:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:23868601:C:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:23868609:T:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:23868610:C:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:23868616:G:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:23868622:C:G 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:23868629:T:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23868634:C:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:23868642:T:C 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:23868659:A:G 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:23868683:C:G 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:23868727:G:C 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:23868734:C:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:23868785:C:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:23868790:A:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:23868823:G:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:23868842:G:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:23868964:C:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:23869276:C:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:23869410:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:23869482:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:23869519:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:23869565:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:23869570:T:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23869594:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23869609:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23869648:C:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23869662:T:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23869692:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23869973:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23869988:T:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:23870028:C:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:23870137:G:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:23870192:G:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:23870600:A:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:23870777:A:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:23870836:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:23870869:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:23870985:T:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:23871004:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:23871022:C:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:23871085:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 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recessive HG002 HG002 chr17:23871519:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:23871991:C:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:23872110:G:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23872217:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23872234:G:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23872280:C:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23872292:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23872363:C:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23872407:G:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23872409:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23872412:C:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23872538:G:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23872541:T:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23872557:C:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23872560:G:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23872625:C:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23872627:T:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23872917:C:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23872920:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23873083:C:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23873316:A:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23873701:T:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23873765:G:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874028:A:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874040:T:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874041:C:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874047:G:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874053:C:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874060:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874073:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874121:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874134:A:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874136:T:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874147:T:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874155:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874158:G:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874178:T:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874194:A:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874197:C:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:23874216:C:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874221:A:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874235:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874240:A:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874291:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874294:T:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874310:T:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874313:T:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874535:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874538:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874557:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874562:T:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874568:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874576:T:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874581:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874635:G:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:23874653:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874667:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874707:C:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874719:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874720:A:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874726:C:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874732:G:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874739:C:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874744:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874745:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874752:C:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874764:A:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874815:A:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:23874826:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874834:A:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874841:T:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874847:C:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874913:C:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874916:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874933:A:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23874986:A:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:23874996:C:A 2,.,. -1 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chr17:23878163:A:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:23878234:A:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:23878262:T:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:23878411:A:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:23878470:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:23878506:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:23878513:G:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:23878543:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:23878549:T:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:23878585:T:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:23878619:T:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:23878719:C:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:23879024:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:23879262:G:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:23879283:C:A 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:23902521:T:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:23903019:T:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:23903053:T:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:23903769:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:23903788:C:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:23905234:T:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23905309:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23905409:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23905732:T:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23905766:T:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23905824:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:23907453:G:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:23950623:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:23951767:G:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23952257:C:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:23952269:C:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:23952432:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:23952961:G:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:23953016:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23953339:G:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:23953437:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:23953516:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:23953839:G:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:23954248:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:23954490:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:23954527:G:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:23954557:G:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:23954607:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:23954633:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:23954733:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:23954757:G:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:23954953:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:23954984:C:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:23955052:G:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:23955089:G:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:23955147:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:23955218:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:23955676:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:23955731:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:23955757:G:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:23955928:C:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:23956055:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:23956189:T:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:23956232:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:23956319:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:23956345:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:23956964:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23956992:T:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:23957018:G:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:23957141:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23957200:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:23957243:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:23957323:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:23957449:C:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:23957473:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23957669:T:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.981132,.,. recessive HG002 HG002 chr17:23957688:C:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:23957694:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23957700:C:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23957720:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:23957805:G:C 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:23957863:C:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:23957934:A:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:23957941:T:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 0.985294,.,. recessive HG002 HG002 chr17:23958392:G:T 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:23958447:A:G 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:23958519:T:C 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:23958643:C:A 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:23958672:G:A 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:23958726:C:A 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:23958751:G:A 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:23958763:G:T 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:23958770:G:T 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:23958772:A:G 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:23958805:C:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:23958824:C:G 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:23958868:A:G 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:23958873:C:A 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:23958904:T:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 0.985294,.,. recessive HG002 HG002 chr17:23958920:C:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:23958923:G:A 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:23958947:A:G 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:23959035:G:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:23959121:G:C 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:23959270:G:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:23959280:C:G 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr17:23959286:T:C 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.991597,.,. recessive HG002 HG002 chr17:23959706:T:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.985611,.,. recessive HG002 HG002 chr17:23959855:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:23959920:T:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:23959947:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:23959950:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:23959957:G:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:23960037:C:A 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:23960063:T:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:23960126:G:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:23960127:G:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:23960140:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:23960150:A:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:23960163:C:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:23960187:G:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:23960233:G:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:23960234:G:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:23960328:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:23960578:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:23960583:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:23960597:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:23960863:GA:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:23960880:A:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:23960945:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:23961049:G:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:23961070:C:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:23961108:G:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:23961163:A:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:23961168:A:G 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:23961187:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:23961189:G:T 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 1,.,. recessive HG002 HG002 chr17:23961221:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:23961235:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:23961257:T:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:23961313:G:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:23961359:C:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:23961403:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:23961417:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:23961428:A:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.992857,.,. recessive HG002 HG002 chr17:23961442:C:A 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:23961467:G:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:23961479:G:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:23961486:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:23961488:A:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:23961521:C:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:23961550:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:23961559:T:A 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:23961584:A:G 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:23961636:C:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:23961639:G:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:23961663:A:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:23961666:C:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:23961669:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:23961702:G:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:23961986:G:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:23961996:C:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:23962323:A:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.990654,.,. recessive HG002 HG002 chr17:23962339:C:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 0.981132,.,. recessive HG002 HG002 chr17:23962394:A:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:23962415:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:23962422:T:G 2,.,. -1 -1 -1 -1 -1 -1 101,.,. 1,.,. recessive HG002 HG002 chr17:23962473:A:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:23962502:G:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:23962520:A:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:23962631:G:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:23962637:T:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:23962664:G:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:23962667:A:T 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:23962674:G:A 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:23962677:T:C 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:23962686:A:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:23962699:A:G 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:23962710:T:C 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:23962754:C:A 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:23962780:T:A 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:23962794:A:C 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:23962843:G:C 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:23962880:C:A 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:23962904:G:C 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:23962950:G:C 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:23962951:G:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:23963044:A:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:23963065:G:T 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:23963293:C:A 2,.,. -1 -1 -1 -1 -1 -1 101,.,. 1,.,. recessive HG002 HG002 chr17:23963294:C:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:23963299:A:T 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr17:23963362:C:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:23963369:G:T 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:23963372:T:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 0.990566,.,. recessive HG002 HG002 chr17:23963613:G:A 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr17:23963616:T:C 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr17:23963659:G:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:23963745:G:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:23963779:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:23963798:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:23963810:G:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 0.987654,.,. recessive HG002 HG002 chr17:23963823:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:23963871:G:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 0.987654,.,. recessive HG002 HG002 chr17:23963878:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:23963883:A:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:23963904:G:T 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:23963950:T:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:23963972:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:23964062:A:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 0.987654,.,. recessive HG002 HG002 chr17:23964065:T:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:23964074:C:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:23964086:T:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:23964109:C:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:23964117:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:23964143:A:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:23964157:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:23964182:G:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:23964201:G:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:23964203:A:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:23964236:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:23964255:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:23964265:G:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:23964277:T:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 0.987654,.,. recessive HG002 HG002 chr17:23964299:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:23964351:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:23964354:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:23964378:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:23964381:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:23964390:T:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:23964414:C:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:23964465:G:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:23964491:G:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 0.987654,.,. recessive HG002 HG002 chr17:23964542:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:23964718:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:23964725:C:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:23964727:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:23985426:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:23985647:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:23986173:C:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:23988362:C:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:23996303:T:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:23996951:C:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:23997335:A:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:23997478:C:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:23999000:A:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:23999642:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:24000050:A:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:24000158:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24000193:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:24000227:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:24000238:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:24000278:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24000299:G:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24000522:A:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24027877:G:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:24033938:A:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:24033975:C:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:24077363:A:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:24121778:G:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. dominant HG002 HG002 chr17:24122063:T:C 1,.,. -1 -1 -1 -1 -1 -1 7,.,. 0.428571,.,. recessive HG002 HG002 chr17:24122559:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:24123424:C:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:24124495:G:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:24125148:C:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:24181321:G:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:24181353:C:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24181596:T:G 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:24181597:C:A 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:24181630:G:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:24181737:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:24181778:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:24181811:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:24181944:C:A 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:24181957:T:A 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:24182244:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:24182265:C:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:24182325:G:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:24182344:G:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:24182638:A:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:24182716:C:A 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:24182946:G:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:24183091:C:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24183144:T:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24183173:A:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:24183343:C:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. recessive HG002 HG002 chr17:24183443:C:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:24183487:T:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24183501:A:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24183692:G:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:24183702:G:A 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:24183732:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:24183738:T:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. recessive HG002 HG002 chr17:24183872:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24183922:T:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:24184147:T:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:24184148:C:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:24184181:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:24184192:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24184221:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24184247:G:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:24184323:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:24184361:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:24184434:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24184793:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24184814:C:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24184844:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24184874:G:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24184893:G:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24184989:C:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24185495:G:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24185722:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24185891:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24185892:C:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186138:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186162:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186178:C:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:24186191:TG:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186315:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186318:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186353:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186387:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186391:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186410:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186453:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186464:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186469:T:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186519:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186520:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186564:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186593:G:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186619:C:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186623:C:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186631:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186637:T:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186659:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186832:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24186862:T:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:24186863:C:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:24186896:G:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:24186907:T:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:24186936:C:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:24186962:G:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:24187003:C:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:24187038:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24187072:T:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24187076:G:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24203183:T:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:24203339:G:C 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:24203346:C:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:24203672:A:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:24203686:C:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:24203730:G:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:24203737:T:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:24203806:T:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:24203880:C:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:24203943:C:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:24203946:G:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:24203950:T:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:24203967:T:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:24204110:T:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:24204231:G:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24204236:A:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24204639:A:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24204647:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24204721:A:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24204792:TA:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24204876:G:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24204892:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24204927:G:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24204960:A:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24204962:G:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205025:T:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205033:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205039:A:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205063:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205064:A:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205083:T:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205089:G:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205125:C:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205127:G:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205261:T:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205310:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205333:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205351:A:C 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:24205363:T:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205364:C:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205376:C:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205383:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205481:G:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205501:T:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205509:G:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205520:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205566:T:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24205617:T:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24205845:G:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24205917:A:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24205985:T:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206045:G:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206063:C:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206065:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206084:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206114:T:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206123:A:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206145:C:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24206258:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24206266:A:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206311:T:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24206365:A:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206369:A:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206370:G:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206373:G:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206391:A:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206421:A:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206426:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24206446:T:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206518:C:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206521:T:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206525:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206553:G:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206572:T:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206585:A:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206600:A:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206635:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206682:T:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206710:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24206728:C:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24207045:T:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:24207376:C:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24207381:A:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24207432:T:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:24207741:T:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:24207742:C:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:24207748:G:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:24207754:C:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:24207815:C:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:24207856:G:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:24207916:C:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:24207954:G:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:24208099:T:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:24208408:C:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:24208463:G:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:24208468:G:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:24208487:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24208492:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24208583:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24208632:C:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24208702:T:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24208709:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24208726:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24208756:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24209089:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24209101:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24209118:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24209137:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24209162:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:24209234:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24209269:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24209287:T:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24209288:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24209316:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24209404:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24209457:T:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:24209486:A:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:24209733:A:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:24209761:T:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:24209779:A:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:24209786:TG:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:24209793:A:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:24209801:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:24209910:A:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:24209947:A:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:24209958:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:24209982:G:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:24210002:G:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:24210118:T:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:24210155:C:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24210582:C:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:24210633:C:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:24210816:T:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:24210873:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:24211103:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:24211124:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211179:G:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211203:G:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211208:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211299:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211311:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211322:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211342:G:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:24211348:C:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211366:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211425:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211442:G:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:24211457:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211472:G:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211483:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211496:C:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:24211510:T:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211540:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211542:A:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24211805:G:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. recessive HG002 HG002 chr17:24211950:C:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:24211985:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212032:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212040:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212088:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212119:C:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:24212151:T:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212159:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212172:T:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212201:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212202:C:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212448:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212466:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212468:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212469:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212476:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212494:A:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212501:TG:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212508:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212509:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212516:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212625:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212647:G:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24212662:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24212673:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24212717:G:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:24212812:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24212833:T:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24212933:C:A 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:24213154:T:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:24213155:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:24213164:C:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:24213172:T:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24213173:C:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24213179:G:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24213185:C:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24213187:T:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24213197:C:T 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:24213205:T:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24213206:G:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24213222:A:G 2,.,. -1 -1 -1 0.00175193 2 5 77,.,. 1,.,. recessive HG002 HG002 chr17:24213246:C:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24213264:C:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24213272:G:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24213273:G:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24213287:G:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24213297:C:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24213348:C:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24213353:A:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:24213386:G:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24213434:C:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:24213459:A:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:24213503:A:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:24213518:C:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:24213531:T:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:24213558:G:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:24213588:T:A 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:24213818:G:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:24213829:A:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:24213839:C:A 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:24213870:G:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:24213894:G:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:24213899:G:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:24213910:G:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:24213918:G:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24213923:T:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 0.984615,.,. recessive HG002 HG002 chr17:24213973:T:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:24214014:C:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:24214047:A:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:24214063:C:G 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:24214081:C:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214128:C:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214133:T:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:24214140:T:C 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:24214157:G:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:24214172:C:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:24214187:G:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:24214198:C:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:24214208:G:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 0.984615,.,. recessive HG002 HG002 chr17:24214211:C:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:24214255:G:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:24214269:A:G 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:24214499:A:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214507:G:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24214517:G:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214519:G:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214520:G:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214532:C:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214549:T:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214550:G:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214568:A:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214593:T:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214625:T:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24214638:G:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214665:C:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214700:G:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214718:T:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214719:T:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214747:A:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214755:G:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24214765:C:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214783:C:G 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24214804:C:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214809:G:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214835:C:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214867:T:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214875:C:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214888:T:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214889:T:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214893:C:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214917:A:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24214918:C:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24215164:A:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24215171:A:C 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24215182:C:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24215184:A:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24215185:C:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24215192:T:C 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24215210:A:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:24215217:TG:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24215222:G:A 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24215224:A:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24215225:G:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24215232:C:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24215240:A:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24215254:G:C 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 0.984375,.,. recessive HG002 HG002 chr17:24215268:G:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24215341:A:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24215363:G:C 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24215378:A:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:24215389:C:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:24215400:G:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr17:24215433:G:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:24215528:A:G 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:24215549:T:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:24215579:T:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:24215586:C:G 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr17:24215649:C:A 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:24215870:T:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:24215871:G:A 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:24215876:T:A 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:24215880:C:A 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:24215888:T:G 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:24215889:C:A 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:24215895:G:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:24215901:C:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:24215908:T:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:24215913:C:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:24215921:T:C 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 0.985915,.,. recessive HG002 HG002 chr17:24215922:G:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:24215962:C:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:24215980:C:G 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:24215988:G:C 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:24216013:C:A 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:24216064:C:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24216102:G:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24216247:T:A 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 0.985507,.,. recessive HG002 HG002 chr17:24216534:G:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:24216545:A:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:24216555:C:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:24216593:G:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr17:24216610:G:A 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 0.984375,.,. recessive HG002 HG002 chr17:24216615:G:C 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:24216626:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:24216672:T:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24216720:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24216730:C:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24216742:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24216761:C:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24216779:C:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24216797:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24216819:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24216820:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24216849:T:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24216856:T:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24216865:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24216873:G:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24216903:G:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24216914:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24216927:C:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24216951:T:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24216971:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24216988:T:A 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:24217006:C:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24217223:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24217236:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217244:A:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217252:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24217255:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:24217265:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217268:A:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217276:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217292:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24217307:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24217309:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217312:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217329:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24217347:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:24217349:T:TC 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217354:G:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24217368:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217381:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:24217409:A:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217415:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24217431:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217434:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217463:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217471:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24217476:A:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217477:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24217481:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24217496:A:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217497:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24217501:A:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217503:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217519:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217520:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24217526:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217533:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217550:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217552:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217553:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217574:A:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217582:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217603:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217604:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217611:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217628:A:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:24217632:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217633:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217651:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217652:C:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:24217657:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24217676:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:24217690:C:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:24217711:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217719:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217720:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217724:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:24217732:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217776:T:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217779:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217790:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217815:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217816:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217880:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217887:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:24217888:C:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:24217898:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217900:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217901:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217908:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217914:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217920:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217926:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217933:TG:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217938:G:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217940:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217941:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24217948:C:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:24217988:G:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:24218008:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218018:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:24218021:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218044:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218057:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218060:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218079:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218094:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218095:T:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:24218105:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218114:T:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218116:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218129:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:24218133:A:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218149:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218152:A:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218176:A:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:24218181:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218189:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218195:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218211:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218231:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218261:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:24218262:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218265:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218268:C:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218273:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218274:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218276:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218281:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218284:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218286:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218294:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218295:T:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218306:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218361:C:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218365:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218367:G:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218376:A:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218604:T:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218605:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218608:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218611:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218616:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218617:C:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218619:T:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218624:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218627:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218629:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218637:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218638:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218649:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218704:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218708:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218710:A:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218719:G:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218722:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218729:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218742:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218745:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218764:C:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:24218779:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218780:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218790:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218799:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218801:T:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24218814:T:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:24218818:G:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24238466:G:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:24239013:T:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:24239112:T:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:24239138:T:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:24239436:T:C 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:24239444:C:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:24239470:T:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:24239528:T:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:24239821:C:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:24241636:G:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:24241639:C:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:24283610:C:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24283612:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24283631:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24283692:C:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24283916:G:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24283919:G:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24284146:A:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24284294:T:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24299804:A:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:24299956:A:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:24300003:C:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:24300006:C:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:24300122:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:24300525:G:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24300546:C:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:24301407:G:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:24301462:G:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:24301870:A:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:24302608:C:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:24302772:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:24302981:C:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:24303288:G:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:24303681:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:24304297:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:24304426:T:C 2,.,. -1 -1 -1 0.00280308 4 8 17,.,. 1,.,. recessive HG002 HG002 chr17:24305486:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:24305824:C:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:24306819:C:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:24306839:G:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:24307209:G:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:24307304:A:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:24307583:G:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:24307619:T:C 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:24308204:C:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:24308209:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:24308870:C:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:24308996:T:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:24309013:G:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:24309111:G:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:24310020:A:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:24310758:C:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:24311828:G:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:24312350:GC:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:24312481:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:24339962:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:24340514:A:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:24341241:T:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:24376878:T:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:24474811:A:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:24478043:C:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:24530572:C:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.983333,.,. recessive HG002 HG002 chr17:24530577:A:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.983333,.,. recessive HG002 HG002 chr17:24530650:T:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 0.986111,.,. recessive HG002 HG002 chr17:24530873:A:C 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.99061,.,. recessive HG002 HG002 chr17:24530875:A:T 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.995305,.,. recessive HG002 HG002 chr17:24530890:A:C 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.985915,.,. recessive HG002 HG002 chr17:24530891:G:A 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 0.990521,.,. recessive HG002 HG002 chr17:24530894:G:C 2,.,. -1 -1 -1 -1 -1 -1 210,.,. 1,.,. recessive HG002 HG002 chr17:24530912:A:C 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 0.990521,.,. recessive HG002 HG002 chr17:24530924:G:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.99061,.,. recessive HG002 HG002 chr17:24530937:G:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.995305,.,. recessive HG002 HG002 chr17:24530940:A:T 2,.,. -1 -1 -1 -1 -1 -1 210,.,. 0.985714,.,. recessive HG002 HG002 chr17:24530942:A:T 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.99061,.,. recessive HG002 HG002 chr17:24530946:C:T 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:24530958:A:G 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.995305,.,. recessive HG002 HG002 chr17:24531006:A:T 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 0.990431,.,. recessive HG002 HG002 chr17:24531013:C:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.995305,.,. recessive HG002 HG002 chr17:24531023:G:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.995305,.,. recessive HG002 HG002 chr17:24531042:G:T 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 1,.,. recessive HG002 HG002 chr17:24531053:A:T 2,.,. -1 -1 -1 -1 -1 -1 210,.,. 1,.,. recessive HG002 HG002 chr17:24531063:C:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:24531082:C:G 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 0.990431,.,. recessive HG002 HG002 chr17:24531085:A:T 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 1,.,. recessive HG002 HG002 chr17:24531101:G:T 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.990566,.,. recessive HG002 HG002 chr17:24531113:G:T 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:24531118:G:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.995305,.,. recessive HG002 HG002 chr17:24531123:G:C 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:24531156:A:G 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 1,.,. recessive HG002 HG002 chr17:24531161:A:G 2,.,. -1 -1 -1 -1 -1 -1 206,.,. 1,.,. recessive HG002 HG002 chr17:24531163:T:A 2,.,. -1 -1 -1 -1 -1 -1 204,.,. 1,.,. recessive HG002 HG002 chr17:24531182:G:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24531196:T:A 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 1,.,. recessive HG002 HG002 chr17:24531207:G:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.995283,.,. recessive HG002 HG002 chr17:24531213:T:C 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:24531216:G:T 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:24531227:T:C 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:24531237:C:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:24531249:T:G 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 1,.,. recessive HG002 HG002 chr17:24531257:G:T 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 1,.,. recessive HG002 HG002 chr17:24531268:C:T 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 0.995192,.,. recessive HG002 HG002 chr17:24531270:A:T 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 1,.,. recessive HG002 HG002 chr17:24531271:T:C 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:24531286:C:G 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:24531304:C:T 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:24531305:G:A 2,.,. -1 -1 -1 -1 -1 -1 210,.,. 1,.,. recessive HG002 HG002 chr17:24531311:A:AC 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 0.980676,.,. recessive HG002 HG002 chr17:24531312:G:C 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:24531320:T:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.99061,.,. recessive HG002 HG002 chr17:24531323:T:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:24531326:G:T 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 1,.,. recessive HG002 HG002 chr17:24531327:T:C 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.99061,.,. recessive HG002 HG002 chr17:24531351:C:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:24531356:T:A 2,.,. -1 -1 -1 -1 -1 -1 210,.,. 1,.,. recessive HG002 HG002 chr17:24531363:T:C 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:24531380:G:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:24531386:C:T 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:24531410:G:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:24531428:T:C 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.995283,.,. recessive HG002 HG002 chr17:24531434:C:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:24531448:T:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:24531455:C:T 2,.,. -1 -1 -1 -1 -1 -1 210,.,. 0.980952,.,. recessive HG002 HG002 chr17:24531458:T:C 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.995283,.,. recessive HG002 HG002 chr17:24531459:G:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:24531461:C:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:24531471:G:T 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:24531478:G:T 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:24531480:A:G 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.995305,.,. recessive HG002 HG002 chr17:24531492:A:G 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.995305,.,. recessive HG002 HG002 chr17:24531513:C:T 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 1,.,. recessive HG002 HG002 chr17:24531522:A:G 2,.,. -1 -1 -1 -1 -1 -1 206,.,. 1,.,. recessive HG002 HG002 chr17:24531532:T:G 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 1,.,. recessive HG002 HG002 chr17:24531542:G:T 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:24531551:T:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:24531576:A:G 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:24531579:C:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.981221,.,. recessive HG002 HG002 chr17:24531581:C:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.985849,.,. recessive HG002 HG002 chr17:24531599:C:G 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 0.980861,.,. recessive HG002 HG002 chr17:24531601:A:C 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 0.981043,.,. recessive HG002 HG002 chr17:24531608:C:G 2,.,. -1 -1 -1 -1 -1 -1 210,.,. 0.980952,.,. recessive HG002 HG002 chr17:24531618:A:T 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:24531625:T:G 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:24531628:C:T 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.981221,.,. recessive HG002 HG002 chr17:24531631:G:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:24531636:A:G 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.981221,.,. recessive HG002 HG002 chr17:24531655:A:G 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:24531661:T:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:24531663:T:G 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 0.980769,.,. recessive HG002 HG002 chr17:24531672:C:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:24531674:A:T 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 0.981043,.,. recessive HG002 HG002 chr17:24531681:T:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.981221,.,. recessive HG002 HG002 chr17:24531685:T:G 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:24531694:G:A 2,.,. -1 -1 -1 -1 -1 -1 210,.,. 0.980952,.,. recessive HG002 HG002 chr17:24531696:C:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:24531698:T:G 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 0.980861,.,. recessive HG002 HG002 chr17:24531711:T:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:24531723:T:C 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 0.985782,.,. recessive HG002 HG002 chr17:24531728:T:G 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 0.985646,.,. recessive HG002 HG002 chr17:24531730:G:T 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 1,.,. recessive HG002 HG002 chr17:24531733:T:C 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:24531743:G:T 2,.,. -1 -1 -1 -1 -1 -1 273,.,. 1,.,. recessive HG002 HG002 chr17:24531759:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:24531768:G:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:24531774:T:G 2,.,. -1 -1 -1 -1 -1 -1 280,.,. 1,.,. recessive HG002 HG002 chr17:24531783:A:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:24531796:C:T 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 0.989474,.,. recessive HG002 HG002 chr17:24531799:C:T 2,.,. -1 -1 -1 -1 -1 -1 286,.,. 1,.,. recessive HG002 HG002 chr17:24531814:C:G 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 1,.,. recessive HG002 HG002 chr17:24531823:A:G 2,.,. -1 -1 -1 -1 -1 -1 280,.,. 0.989286,.,. recessive HG002 HG002 chr17:24531829:G:C 2,.,. -1 -1 -1 -1 -1 -1 283,.,. 1,.,. recessive HG002 HG002 chr17:24531836:A:T 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.992958,.,. recessive HG002 HG002 chr17:24531853:T:TA 2,.,. -1 -1 -1 -1 -1 -1 280,.,. 0.985714,.,. recessive HG002 HG002 chr17:24531856:T:C 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 1,.,. recessive HG002 HG002 chr17:24531861:G:C 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 1,.,. recessive HG002 HG002 chr17:24531862:C:A 2,.,. -1 -1 -1 -1 -1 -1 286,.,. 0.996503,.,. recessive HG002 HG002 chr17:24532315:A:G 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 0.997093,.,. recessive HG002 HG002 chr17:24532366:G:A 2,.,. -1 -1 -1 -1 -1 -1 329,.,. 0.99696,.,. recessive HG002 HG002 chr17:24532369:C:A 2,.,. -1 -1 -1 -1 -1 -1 330,.,. 0.987879,.,. recessive HG002 HG002 chr17:24532370:T:G 2,.,. -1 -1 -1 -1 -1 -1 330,.,. 0.99697,.,. recessive HG002 HG002 chr17:24532373:A:G 2,.,. -1 -1 -1 -1 -1 -1 343,.,. 0.988338,.,. recessive HG002 HG002 chr17:24532386:A:T 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 1,.,. recessive HG002 HG002 chr17:24532394:C:T 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 0.997093,.,. recessive HG002 HG002 chr17:24532395:C:T 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 0.991279,.,. recessive HG002 HG002 chr17:24532399:G:T 2,.,. -1 -1 -1 -1 -1 -1 342,.,. 0.982456,.,. recessive HG002 HG002 chr17:24532404:C:T 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 1,.,. recessive HG002 HG002 chr17:24532414:T:G 2,.,. -1 -1 -1 -1 -1 -1 329,.,. 1,.,. recessive HG002 HG002 chr17:24532454:C:A 2,.,. -1 -1 -1 -1 -1 -1 330,.,. 1,.,. recessive HG002 HG002 chr17:24532465:A:T 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 1,.,. recessive HG002 HG002 chr17:24532466:A:T 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 1,.,. recessive HG002 HG002 chr17:24532467:T:C 2,.,. -1 -1 -1 -1 -1 -1 343,.,. 0.988338,.,. recessive HG002 HG002 chr17:24532476:G:C 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 1,.,. recessive HG002 HG002 chr17:24532494:G:A 2,.,. -1 -1 -1 -1 -1 -1 342,.,. 0.997076,.,. recessive HG002 HG002 chr17:24532529:C:T 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 0.991279,.,. recessive HG002 HG002 chr17:24532530:G:T 2,.,. -1 -1 -1 -1 -1 -1 341,.,. 0.98827,.,. recessive HG002 HG002 chr17:24532535:G:T 2,.,. -1 -1 -1 -1 -1 -1 331,.,. 0.990937,.,. recessive HG002 HG002 chr17:24532563:A:T 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 1,.,. recessive HG002 HG002 chr17:24532574:A:T 2,.,. -1 -1 -1 -1 -1 -1 340,.,. 0.991176,.,. recessive HG002 HG002 chr17:24532585:G:A 2,.,. -1 -1 -1 -1 -1 -1 328,.,. 1,.,. recessive HG002 HG002 chr17:24532588:A:C 2,.,. -1 -1 -1 -1 -1 -1 342,.,. 0.988304,.,. recessive HG002 HG002 chr17:24532611:C:A 2,.,. -1 -1 -1 -1 -1 -1 340,.,. 1,.,. recessive HG002 HG002 chr17:24532619:T:G 2,.,. -1 -1 -1 -1 -1 -1 334,.,. 0.982036,.,. recessive HG002 HG002 chr17:24532622:G:T 2,.,. -1 -1 -1 -1 -1 -1 341,.,. 0.994135,.,. recessive HG002 HG002 chr17:24532628:T:A 2,.,. -1 -1 -1 -1 -1 -1 343,.,. 0.991254,.,. recessive HG002 HG002 chr17:24532635:G:T 2,.,. -1 -1 -1 -1 -1 -1 340,.,. 1,.,. recessive HG002 HG002 chr17:24532655:G:T 2,.,. -1 -1 -1 -1 -1 -1 334,.,. 1,.,. recessive HG002 HG002 chr17:24532658:A:T 2,.,. -1 -1 -1 -1 -1 -1 341,.,. 0.997067,.,. recessive HG002 HG002 chr17:24532671:A:T 2,.,. -1 -1 -1 -1 -1 -1 343,.,. 0.988338,.,. recessive HG002 HG002 chr17:24532677:A:T 2,.,. -1 -1 -1 -1 -1 -1 334,.,. 0.988024,.,. recessive HG002 HG002 chr17:24532682:A:C 2,.,. -1 -1 -1 -1 -1 -1 331,.,. 0.996979,.,. recessive HG002 HG002 chr17:24532684:T:A 2,.,. -1 -1 -1 -1 -1 -1 343,.,. 0.997085,.,. recessive HG002 HG002 chr17:24532695:G:T 2,.,. -1 -1 -1 -1 -1 -1 343,.,. 1,.,. recessive HG002 HG002 chr17:24532701:T:C 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 0.997093,.,. recessive HG002 HG002 chr17:24532708:G:T 2,.,. -1 -1 -1 -1 -1 -1 330,.,. 1,.,. recessive HG002 HG002 chr17:24532717:T:A 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 1,.,. recessive HG002 HG002 chr17:24532745:C:A 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 0.997093,.,. recessive HG002 HG002 chr17:24532771:T:A 2,.,. -1 -1 -1 -1 -1 -1 346,.,. 1,.,. recessive HG002 HG002 chr17:24532779:C:T 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 0.997093,.,. recessive HG002 HG002 chr17:24532787:A:C 2,.,. -1 -1 -1 -1 -1 -1 333,.,. 1,.,. recessive HG002 HG002 chr17:24532790:C:T 2,.,. -1 -1 -1 -1 -1 -1 337,.,. 1,.,. recessive HG002 HG002 chr17:24532808:C:G 2,.,. -1 -1 -1 -1 -1 -1 346,.,. 1,.,. recessive HG002 HG002 chr17:24532809:C:T 2,.,. -1 -1 -1 -1 -1 -1 346,.,. 0.99711,.,. recessive HG002 HG002 chr17:24532810:A:G 2,.,. -1 -1 -1 -1 -1 -1 343,.,. 0.988338,.,. recessive HG002 HG002 chr17:24532835:G:C 2,.,. -1 -1 -1 -1 -1 -1 362,.,. 0.997238,.,. recessive HG002 HG002 chr17:24532871:C:A 2,.,. -1 -1 -1 -1 -1 -1 365,.,. 0.99726,.,. recessive HG002 HG002 chr17:24532873:G:A 2,.,. -1 -1 -1 -1 -1 -1 365,.,. 1,.,. recessive HG002 HG002 chr17:24532879:G:A 2,.,. -1 -1 -1 -1 -1 -1 362,.,. 1,.,. recessive HG002 HG002 chr17:24532885:T:C 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 1,.,. recessive HG002 HG002 chr17:24532892:C:A 2,.,. -1 -1 -1 -1 -1 -1 365,.,. 0.99726,.,. recessive HG002 HG002 chr17:24532908:C:T 2,.,. -1 -1 -1 -1 -1 -1 364,.,. 0.997253,.,. recessive HG002 HG002 chr17:24533109:A:T 2,.,. -1 -1 -1 -1 -1 -1 370,.,. 1,.,. recessive HG002 HG002 chr17:24533415:G:T 2,.,. -1 -1 -1 -1 -1 -1 375,.,. 0.997333,.,. recessive HG002 HG002 chr17:24533474:G:T 2,.,. -1 -1 -1 -1 -1 -1 350,.,. 0.988571,.,. recessive HG002 HG002 chr17:24533486:G:T 2,.,. -1 -1 -1 -1 -1 -1 372,.,. 0.997312,.,. recessive HG002 HG002 chr17:24533507:G:T 2,.,. -1 -1 -1 -1 -1 -1 357,.,. 0.997199,.,. recessive HG002 HG002 chr17:24533536:T:A 2,.,. -1 -1 -1 -1 -1 -1 346,.,. 0.99711,.,. recessive HG002 HG002 chr17:24533547:G:T 2,.,. -1 -1 -1 -1 -1 -1 331,.,. 0.996979,.,. recessive HG002 HG002 chr17:24533553:T:C 2,.,. -1 -1 -1 -1 -1 -1 353,.,. 0.997167,.,. recessive HG002 HG002 chr17:24533555:G:T 2,.,. -1 -1 -1 -1 -1 -1 328,.,. 1,.,. recessive HG002 HG002 chr17:24533570:T:A 2,.,. -1 -1 -1 -1 -1 -1 352,.,. 1,.,. recessive HG002 HG002 chr17:24533581:G:A 2,.,. -1 -1 -1 -1 -1 -1 350,.,. 1,.,. recessive HG002 HG002 chr17:24533587:T:C 2,.,. -1 -1 -1 -1 -1 -1 353,.,. 0.997167,.,. recessive HG002 HG002 chr17:24533642:C:T 2,.,. -1 -1 -1 -1 -1 -1 330,.,. 1,.,. recessive HG002 HG002 chr17:24533644:A:T 2,.,. -1 -1 -1 -1 -1 -1 323,.,. 1,.,. recessive HG002 HG002 chr17:24533660:C:G 2,.,. -1 -1 -1 -1 -1 -1 324,.,. 1,.,. recessive HG002 HG002 chr17:24533679:G:A 2,.,. -1 -1 -1 -1 -1 -1 352,.,. 1,.,. recessive HG002 HG002 chr17:24533687:G:C 2,.,. -1 -1 -1 -1 -1 -1 337,.,. 1,.,. recessive HG002 HG002 chr17:24533694:T:A 2,.,. -1 -1 -1 -1 -1 -1 354,.,. 1,.,. recessive HG002 HG002 chr17:24533697:T:A 2,.,. -1 -1 -1 -1 -1 -1 322,.,. 1,.,. recessive HG002 HG002 chr17:24533725:C:A 2,.,. -1 -1 -1 -1 -1 -1 352,.,. 0.997159,.,. recessive HG002 HG002 chr17:24533737:T:C 2,.,. -1 -1 -1 -1 -1 -1 323,.,. 1,.,. recessive HG002 HG002 chr17:24533746:C:T 2,.,. -1 -1 -1 -1 -1 -1 353,.,. 1,.,. recessive HG002 HG002 chr17:24533754:G:A 2,.,. -1 -1 -1 -1 -1 -1 328,.,. 1,.,. recessive HG002 HG002 chr17:24533769:C:T 2,.,. -1 -1 -1 -1 -1 -1 354,.,. 1,.,. recessive HG002 HG002 chr17:24533784:G:A 2,.,. -1 -1 -1 -1 -1 -1 354,.,. 1,.,. recessive HG002 HG002 chr17:24533808:C:A 2,.,. -1 -1 -1 -1 -1 -1 330,.,. 1,.,. recessive HG002 HG002 chr17:24533822:T:A 2,.,. -1 -1 -1 -1 -1 -1 354,.,. 0.997175,.,. recessive HG002 HG002 chr17:24533845:G:T 2,.,. -1 -1 -1 -1 -1 -1 354,.,. 0.997175,.,. recessive HG002 HG002 chr17:24533852:G:T 2,.,. -1 -1 -1 -1 -1 -1 354,.,. 1,.,. recessive HG002 HG002 chr17:24533854:A:G 2,.,. -1 -1 -1 -1 -1 -1 353,.,. 1,.,. recessive HG002 HG002 chr17:24533916:G:T 2,.,. -1 -1 -1 -1 -1 -1 354,.,. 1,.,. recessive HG002 HG002 chr17:24533925:T:A 2,.,. -1 -1 -1 -1 -1 -1 329,.,. 1,.,. recessive HG002 HG002 chr17:24533950:A:C 2,.,. -1 -1 -1 -1 -1 -1 337,.,. 1,.,. recessive HG002 HG002 chr17:24533953:C:A 2,.,. -1 -1 -1 -1 -1 -1 354,.,. 1,.,. recessive HG002 HG002 chr17:24533955:C:A 2,.,. -1 -1 -1 -1 -1 -1 352,.,. 1,.,. recessive HG002 HG002 chr17:24533982:C:G 2,.,. -1 -1 -1 -1 -1 -1 353,.,. 1,.,. recessive HG002 HG002 chr17:24534005:G:A 2,.,. -1 -1 -1 -1 -1 -1 353,.,. 1,.,. recessive HG002 HG002 chr17:24534010:A:G 2,.,. -1 -1 -1 -1 -1 -1 354,.,. 1,.,. recessive HG002 HG002 chr17:24534032:C:T 2,.,. -1 -1 -1 -1 -1 -1 354,.,. 0.997175,.,. recessive HG002 HG002 chr17:24534035:T:A 2,.,. -1 -1 -1 -1 -1 -1 353,.,. 0.997167,.,. recessive HG002 HG002 chr17:24534037:T:G 2,.,. -1 -1 -1 -1 -1 -1 354,.,. 1,.,. recessive HG002 HG002 chr17:24534055:T:A 2,.,. -1 -1 -1 -1 -1 -1 349,.,. 0.997135,.,. recessive HG002 HG002 chr17:24534070:C:A 2,.,. -1 -1 -1 -1 -1 -1 353,.,. 1,.,. recessive HG002 HG002 chr17:24534072:T:G 2,.,. -1 -1 -1 -1 -1 -1 329,.,. 1,.,. recessive HG002 HG002 chr17:24534277:C:T 2,.,. -1 -1 -1 -1 -1 -1 353,.,. 1,.,. recessive HG002 HG002 chr17:24534297:G:T 2,.,. -1 -1 -1 -1 -1 -1 354,.,. 0.983051,.,. recessive HG002 HG002 chr17:24534352:G:T 2,.,. -1 -1 -1 -1 -1 -1 354,.,. 0.997175,.,. recessive HG002 HG002 chr17:24534375:G:C 2,.,. -1 -1 -1 -1 -1 -1 306,.,. 1,.,. recessive HG002 HG002 chr17:24534760:A:T 2,.,. -1 -1 -1 -1 -1 -1 359,.,. 0.997214,.,. recessive HG002 HG002 chr17:24534778:C:T 2,.,. -1 -1 -1 -1 -1 -1 358,.,. 0.997207,.,. recessive HG002 HG002 chr17:24534781:C:T 2,.,. -1 -1 -1 -1 -1 -1 358,.,. 0.997207,.,. recessive HG002 HG002 chr17:24534788:T:C 2,.,. -1 -1 -1 -1 -1 -1 314,.,. 0.996815,.,. recessive HG002 HG002 chr17:24534839:A:T 2,.,. -1 -1 -1 -1 -1 -1 353,.,. 0.997167,.,. recessive HG002 HG002 chr17:24534903:C:T 2,.,. -1 -1 -1 -1 -1 -1 357,.,. 0.994398,.,. recessive HG002 HG002 chr17:24534959:G:C 2,.,. -1 -1 -1 -1 -1 -1 314,.,. 1,.,. recessive HG002 HG002 chr17:24534985:C:T 2,.,. -1 -1 -1 -1 -1 -1 303,.,. 1,.,. recessive HG002 HG002 chr17:24534993:T:G 2,.,. -1 -1 -1 -1 -1 -1 347,.,. 0.988473,.,. recessive HG002 HG002 chr17:24534996:G:T 2,.,. -1 -1 -1 -1 -1 -1 343,.,. 0.988338,.,. recessive HG002 HG002 chr17:24535002:T:A 2,.,. -1 -1 -1 -1 -1 -1 346,.,. 1,.,. recessive HG002 HG002 chr17:24535009:G:T 2,.,. -1 -1 -1 -1 -1 -1 328,.,. 1,.,. recessive HG002 HG002 chr17:24535029:G:T 2,.,. -1 -1 -1 -1 -1 -1 314,.,. 1,.,. recessive HG002 HG002 chr17:24535082:G:A 2,.,. -1 -1 -1 -1 -1 -1 271,.,. 1,.,. recessive HG002 HG002 chr17:24535091:T:A 2,.,. -1 -1 -1 -1 -1 -1 345,.,. 1,.,. recessive HG002 HG002 chr17:24535119:C:A 2,.,. -1 -1 -1 -1 -1 -1 320,.,. 1,.,. recessive HG002 HG002 chr17:24535145:T:A 2,.,. -1 -1 -1 -1 -1 -1 322,.,. 0.984472,.,. recessive HG002 HG002 chr17:24535161:A:C 2,.,. -1 -1 -1 -1 -1 -1 343,.,. 1,.,. recessive HG002 HG002 chr17:24535164:C:T 2,.,. -1 -1 -1 -1 -1 -1 316,.,. 0.996835,.,. recessive HG002 HG002 chr17:24535182:C:G 2,.,. -1 -1 -1 -1 -1 -1 346,.,. 1,.,. recessive HG002 HG002 chr17:24535208:G:C 2,.,. -1 -1 -1 -1 -1 -1 346,.,. 1,.,. recessive HG002 HG002 chr17:24535209:G:C 2,.,. -1 -1 -1 -1 -1 -1 347,.,. 0.997118,.,. recessive HG002 HG002 chr17:24535210:G:T 2,.,. -1 -1 -1 -1 -1 -1 320,.,. 1,.,. recessive HG002 HG002 chr17:24535222:G:T 2,.,. -1 -1 -1 -1 -1 -1 346,.,. 1,.,. recessive HG002 HG002 chr17:24535223:T:C 2,.,. -1 -1 -1 -1 -1 -1 347,.,. 1,.,. recessive HG002 HG002 chr17:24535225:G:T 2,.,. -1 -1 -1 -1 -1 -1 346,.,. 1,.,. recessive HG002 HG002 chr17:24535232:A:C 2,.,. -1 -1 -1 -1 -1 -1 343,.,. 1,.,. recessive HG002 HG002 chr17:24535245:C:A 2,.,. -1 -1 -1 -1 -1 -1 321,.,. 1,.,. recessive HG002 HG002 chr17:24535259:T:C 2,.,. -1 -1 -1 -1 -1 -1 346,.,. 1,.,. recessive HG002 HG002 chr17:24535269:G:C 2,.,. -1 -1 -1 -1 -1 -1 346,.,. 1,.,. recessive HG002 HG002 chr17:24535315:G:C 2,.,. -1 -1 -1 -1 -1 -1 347,.,. 0.997118,.,. recessive HG002 HG002 chr17:24535338:C:T 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 0.997093,.,. recessive HG002 HG002 chr17:24535339:C:G 2,.,. -1 -1 -1 -1 -1 -1 345,.,. 0.997101,.,. recessive HG002 HG002 chr17:24535342:T:A 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 0.997093,.,. recessive HG002 HG002 chr17:24535351:C:T 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 0.988372,.,. recessive HG002 HG002 chr17:24535408:G:A 2,.,. -1 -1 -1 -1 -1 -1 343,.,. 0.997085,.,. recessive HG002 HG002 chr17:24535409:A:T 2,.,. -1 -1 -1 -1 -1 -1 345,.,. 0.994203,.,. recessive HG002 HG002 chr17:24535419:G:T 2,.,. -1 -1 -1 -1 -1 -1 348,.,. 0.994253,.,. recessive HG002 HG002 chr17:24535494:C:T 2,.,. -1 -1 -1 -1 -1 -1 340,.,. 0.997059,.,. recessive HG002 HG002 chr17:24535587:C:A 2,.,. -1 -1 -1 -1 -1 -1 348,.,. 0.994253,.,. recessive HG002 HG002 chr17:24535608:C:A 2,.,. -1 -1 -1 0.00140154 2 4 348,.,. 1,.,. recessive HG002 HG002 chr17:24535624:C:T 2,.,. -1 -1 -1 -1 -1 -1 347,.,. 1,.,. recessive HG002 HG002 chr17:24535659:C:T 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 1,.,. recessive HG002 HG002 chr17:24535664:A:T 2,.,. -1 -1 -1 -1 -1 -1 343,.,. 0.991254,.,. recessive HG002 HG002 chr17:24535678:G:T 2,.,. -1 -1 -1 -1 -1 -1 340,.,. 0.997059,.,. recessive HG002 HG002 chr17:24535686:T:A 2,.,. -1 -1 -1 -1 -1 -1 343,.,. 0.997085,.,. recessive HG002 HG002 chr17:24535716:G:T 2,.,. -1 -1 -1 -1 -1 -1 344,.,. 1,.,. recessive HG002 HG002 chr17:24535727:C:T 2,.,. -1 -1 -1 -1 -1 -1 341,.,. 1,.,. recessive HG002 HG002 chr17:24535734:G:T 2,.,. -1 -1 -1 -1 -1 -1 343,.,. 0.997085,.,. recessive HG002 HG002 chr17:24535737:T:G 2,.,. -1 -1 -1 -1 -1 -1 342,.,. 0.997076,.,. recessive HG002 HG002 chr17:24536140:A:T 2,.,. -1 -1 -1 -1 -1 -1 323,.,. 0.996904,.,. recessive HG002 HG002 chr17:24536154:A:C 2,.,. -1 -1 -1 -1 -1 -1 322,.,. 0.996894,.,. recessive HG002 HG002 chr17:24536188:G:T 2,.,. -1 -1 -1 -1 -1 -1 314,.,. 0.990446,.,. recessive HG002 HG002 chr17:24536200:G:T 2,.,. -1 -1 -1 -1 -1 -1 315,.,. 0.993651,.,. recessive HG002 HG002 chr17:24536205:G:A 2,.,. -1 -1 -1 -1 -1 -1 315,.,. 0.990476,.,. recessive HG002 HG002 chr17:24536210:G:C 2,.,. -1 -1 -1 -1 -1 -1 315,.,. 0.996825,.,. recessive HG002 HG002 chr17:24536243:A:T 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 0.995215,.,. recessive HG002 HG002 chr17:24536250:T:A 2,.,. -1 -1 -1 -1 -1 -1 252,.,. 0.996032,.,. recessive HG002 HG002 chr17:24536261:G:T 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 0.996109,.,. recessive HG002 HG002 chr17:24536267:T:C 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 0.996109,.,. recessive HG002 HG002 chr17:24536269:G:T 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536284:T:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536295:G:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 0.996109,.,. recessive HG002 HG002 chr17:24536301:T:C 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536304:G:T 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536311:T:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536315:T:C 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536325:C:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536356:C:T 2,.,. -1 -1 -1 -1 -1 -1 253,.,. 1,.,. recessive HG002 HG002 chr17:24536358:A:T 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536374:C:G 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536376:A:G 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 0.996094,.,. recessive HG002 HG002 chr17:24536392:C:T 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536393:G:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536400:G:C 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536414:G:T 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 0.988281,.,. recessive HG002 HG002 chr17:24536424:A:C 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536427:A:G 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 0.996094,.,. recessive HG002 HG002 chr17:24536439:C:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 0.996109,.,. recessive HG002 HG002 chr17:24536444:T:A 2,.,. -1 -1 -1 -1 -1 -1 255,.,. 1,.,. recessive HG002 HG002 chr17:24536449:G:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536451:T:C 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536460:C:T 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 0.996094,.,. recessive HG002 HG002 chr17:24536468:G:A 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536483:C:T 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536498:G:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536509:C:T 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 0.996109,.,. recessive HG002 HG002 chr17:24536522:C:A 2,.,. -1 -1 -1 -1 -1 -1 255,.,. 1,.,. recessive HG002 HG002 chr17:24536536:T:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 0.992218,.,. recessive HG002 HG002 chr17:24536543:C:T 2,.,. -1 -1 -1 -1 -1 -1 253,.,. 0.996047,.,. recessive HG002 HG002 chr17:24536547:G:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536559:G:T 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536566:G:T 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536568:A:G 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536571:C:G 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 0.996109,.,. recessive HG002 HG002 chr17:24536573:T:G 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536580:A:G 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536582:A:C 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536583:T:C 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 0.980545,.,. recessive HG002 HG002 chr17:24536585:T:G 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 0.980469,.,. recessive HG002 HG002 chr17:24536586:C:T 2,.,. -1 -1 -1 -1 -1 -1 252,.,. 0.996032,.,. recessive HG002 HG002 chr17:24536595:C:A 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 0.992188,.,. recessive HG002 HG002 chr17:24536601:C:T 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536620:T:G 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536630:G:T 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536639:T:A 2,.,. -1 -1 -1 -1 -1 -1 254,.,. 1,.,. recessive HG002 HG002 chr17:24536653:T:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536667:C:A 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536669:C:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536692:T:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536693:T:G 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536696:C:G 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536697:G:T 2,.,. -1 -1 -1 -1 -1 -1 254,.,. 1,.,. recessive HG002 HG002 chr17:24536700:T:C 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 0.990431,.,. recessive HG002 HG002 chr17:24536716:C:T 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536719:G:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536724:A:G 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536746:C:T 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 0.996094,.,. recessive HG002 HG002 chr17:24536749:T:A 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 0.996094,.,. recessive HG002 HG002 chr17:24536751:T:G 2,.,. -1 -1 -1 -1 -1 -1 255,.,. 1,.,. recessive HG002 HG002 chr17:24536769:T:A 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536784:C:A 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536786:T:G 2,.,. -1 -1 -1 -1 -1 -1 255,.,. 1,.,. recessive HG002 HG002 chr17:24536799:T:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536818:G:T 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536847:G:A 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24536856:G:T 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536862:T:G 2,.,. -1 -1 -1 -1 -1 -1 255,.,. 1,.,. recessive HG002 HG002 chr17:24536884:C:T 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536902:C:G 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536924:A:C 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 1,.,. recessive HG002 HG002 chr17:24536949:G:C 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 0.996109,.,. recessive HG002 HG002 chr17:24536952:G:A 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 1,.,. recessive HG002 HG002 chr17:24536991:C:T 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 1,.,. recessive HG002 HG002 chr17:24537066:G:T 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 0.996094,.,. recessive HG002 HG002 chr17:24537089:G:C 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:24537092:C:T 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 0.996094,.,. recessive HG002 HG002 chr17:24537474:A:T 2,.,. -1 -1 -1 -1 -1 -1 257,.,. 0.996109,.,. recessive HG002 HG002 chr17:24537492:C:T 2,.,. -1 -1 -1 -1 -1 -1 254,.,. 0.996063,.,. recessive HG002 HG002 chr17:24537495:C:T 2,.,. -1 -1 -1 -1 -1 -1 256,.,. 0.996094,.,. recessive HG002 HG002 chr17:24537553:A:T 2,.,. -1 -1 -1 -1 -1 -1 255,.,. 0.996078,.,. recessive HG002 HG002 chr17:24537651:A:T 2,.,. -1 -1 -1 -1 -1 -1 252,.,. 1,.,. recessive HG002 HG002 chr17:24537662:A:T 2,.,. -1 -1 -1 -1 -1 -1 252,.,. 1,.,. recessive HG002 HG002 chr17:24537673:G:C 2,.,. -1 -1 -1 -1 -1 -1 205,.,. 1,.,. recessive HG002 HG002 chr17:24537702:A:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24537703:G:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:24537707:T:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.984772,.,. recessive HG002 HG002 chr17:24537710:G:T 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 0.989744,.,. recessive HG002 HG002 chr17:24537716:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24537723:G:T 2,.,. -1 -1 -1 -1 -1 -1 189,.,. 1,.,. recessive HG002 HG002 chr17:24537743:G:T 2,.,. -1 -1 -1 -1 -1 -1 172,.,. 1,.,. recessive HG002 HG002 chr17:24537766:T:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24537805:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24537833:C:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24537859:T:A 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:24537875:A:C 2,.,. -1 -1 -1 -1 -1 -1 190,.,. 1,.,. recessive HG002 HG002 chr17:24537878:C:T 2,.,. -1 -1 -1 -1 -1 -1 194,.,. 1,.,. recessive HG002 HG002 chr17:24537896:C:G 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:24537922:G:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:24537924:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:24537933:C:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24537936:G:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:24537937:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:24537939:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:24537946:A:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:24537959:C:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:24537973:T:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24537983:G:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:24538004:A:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:24538018:A:C 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 0.994872,.,. recessive HG002 HG002 chr17:24538029:G:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:24538030:G:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:24538052:C:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:24538053:C:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:24538056:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24538065:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:24538069:G:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:24538123:G:A 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:24538124:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:24538134:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:24538143:A:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:24538176:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24538180:T:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24538190:C:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:24538198:T:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:24538199:C:A 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:24538205:G:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:24538211:C:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:24538218:T:C 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:24538223:C:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:24538231:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:24538232:G:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24538241:A:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:24538244:G:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24538272:C:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24538290:C:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:24538298:G:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:24538313:G:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:24538316:G:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24538323:C:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24538339:C:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:24538374:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:24538379:A:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24538401:T:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:24538412:G:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:24538431:G:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24538442:C:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:24538445:A:G 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:24538449:G:T 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 0.984615,.,. recessive HG002 HG002 chr17:24538475:A:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:24538506:A:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:24538636:C:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 0.989796,.,. recessive HG002 HG002 chr17:24538865:C:A 2,.,. -1 -1 -1 -1 -1 -1 183,.,. 1,.,. recessive HG002 HG002 chr17:24538869:A:C 2,.,. -1 -1 -1 -1 -1 -1 183,.,. 0.994536,.,. recessive HG002 HG002 chr17:24538903:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:24538958:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24538969:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:24538984:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539231:T:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:24539237:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539242:T:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539261:T:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539262:G:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539274:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539281:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539283:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539286:C:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:24539288:T:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539297:A:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539300:T:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539301:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539303:T:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539310:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539316:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539323:A:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:24539324:T:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539345:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539357:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539379:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539387:A:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:24539407:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539431:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539434:G:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539435:G:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539439:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539458:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539461:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539466:T:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:24539470:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539480:C:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:24539488:T:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539494:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539497:G:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:24539499:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539597:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:24539758:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539782:G:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539787:A:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539791:C:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:24539794:T:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539803:GC:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539805:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539807:A:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24539808:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24540043:T:C 2,.,. -1 -1 -1 0.00385424 0 11 42,.,. 1,.,. recessive HG002 HG002 chr17:24540063:T:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:24544596:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24544609:G:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:24544614:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24544624:T:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:24544628:A:T 2,.,. -1 -1 -1 0.00210231 3 6 38,.,. 1,.,. recessive HG002 HG002 chr17:24544664:C:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:24544824:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24544838:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24544845:G:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24544865:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24544955:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24544981:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545000:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:24545016:T:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24545044:G:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545056:C:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:24545058:G:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545171:T:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:24545174:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24545175:C:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545178:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545191:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545298:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545312:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545320:T:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545321:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545327:G:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545333:C:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545340:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545345:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24545370:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545394:C:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545420:G:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545435:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545438:G:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545445:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545534:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545553:G:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24545597:A:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24545987:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546042:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546047:G:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546080:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24546087:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546104:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546106:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24546121:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546138:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546148:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546162:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546193:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546205:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24546213:A:G 2,.,. -1 -1 -1 0.00175193 0 5 55,.,. 1,.,. recessive HG002 HG002 chr17:24546229:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546230:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546261:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24546276:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24546281:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546286:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546305:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546319:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24546320:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546335:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546346:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546359:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546361:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24546372:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546373:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546380:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546396:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546403:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546405:A:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24546408:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546410:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546419:A:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546420:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24546432:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546438:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546530:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546533:C:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24546534:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:24546553:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546556:G:A 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HG002 chr17:24546848:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546875:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546879:A:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24546880:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24546887:T:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24546903:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547311:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547324:G:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24547329:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547339:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:24547359:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547379:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24547485:A:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24547498:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547509:G:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24547538:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547552:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547559:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24547579:G:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:24547619:G:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24547669:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547695:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547714:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547730:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547732:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547757:G:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24547758:G:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547760:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547769:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547770:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24547772:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547859:A:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24547866:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24547879:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547885:T:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24547888:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547889:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547892:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547905:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547926:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24547931:T:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24548011:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24548016:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24548029:C:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:24548034:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24548035:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24548041:G:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24548047:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24548054:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24548059:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24548067:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 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recessive HG002 HG002 chr17:24548311:A:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24548702:C:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:24548740:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:24548757:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:24548762:G:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:24548795:A:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24548802:T:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24548819:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24548821:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24548836:T:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24548853:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24548863:T:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24548877:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24548908:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24548920:G:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24548928:A:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24548944:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24548945:G:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24548991:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24548996:T:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549001:G:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549020:G:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549034:A:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24549035:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549050:G:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549061:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549074:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549076:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24549088:T:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549095:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:24549111:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549118:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549120:A:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549123:C:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:24549134:A:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549135:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549147:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549153:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549245:T:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549248:C:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549249:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549252:T:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24549268:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549271:G:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549276:A:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549298:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549321:T:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549370:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549383:G:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24549399:G:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549436:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24549469:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24549476:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24549595:A:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24549618:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.980769,.,. recessive HG002 HG002 chr17:24549640:A:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24549641:G:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24550026:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24550044:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24550054:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24550094:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24550203:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:24550225:G:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:24550251:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:24550275:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:24550295:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.981132,.,. recessive HG002 HG002 chr17:24550385:C:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:24550411:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:24550448:C:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:24550750:T:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:24550751:C:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:24550757:G:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:24550763:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:24550770:T:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:24550775:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:24550783:T:C 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.982456,.,. recessive HG002 HG002 chr17:24550800:A:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:24550824:C:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:24550842:C:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:24550850:G:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:24550851:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:24550865:G:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:24550875:C:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.982456,.,. recessive HG002 HG002 chr17:24550926:C:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.982456,.,. recessive HG002 HG002 chr17:24550964:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.982143,.,. recessive HG002 HG002 chr17:24551396:G:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:24551417:C:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:24551472:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24551477:G:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:24551735:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:24552879:A:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:24554947:A:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:24555124:A:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:24555847:C:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:24556338:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556438:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556472:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556513:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556564:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556580:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556581:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556627:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556632:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556697:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556710:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556724:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556731:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556754:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556756:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556759:C:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556770:A:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:24556800:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556904:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24556907:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24557254:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24557264:C:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24557267:T:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24557663:A:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:24557840:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24557891:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24557896:T:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24557899:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:24557912:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:24558022:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:24558048:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:24558067:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558083:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558085:C:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558111:G:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558125:G:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558172:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:24558364:T:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558378:C:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558386:T:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558387:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:24558393:G:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558399:C:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558406:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558419:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558432:G:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558460:C:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558490:C:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558504:G:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558511:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:24558562:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558567:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558579:T:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24558619:G:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:24559032:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24559053:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24643765:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:24644101:G:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:24644408:T:A 2,.,. -1 -1 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recessive HG002 HG002 chr17:24814389:T:C 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:24814417:G:C 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24814431:G:T 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:24814519:A:T 2,.,. -1 -1 -1 0.00210231 3 6 107,.,. 1,.,. recessive HG002 HG002 chr17:24814525:A:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24814885:T:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24814925:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24815338:G:T 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:24815359:C:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:24815452:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:24815691:A:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:24815775:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:24815928:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:24816683:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:24823580:C:G 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:24823990:A:T 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:24824012:T:C 2,.,. -1 -1 -1 -1 -1 -1 127,.,. 1,.,. recessive HG002 HG002 chr17:24824162:G:T 2,.,. -1 -1 -1 -1 -1 -1 127,.,. 1,.,. recessive HG002 HG002 chr17:24824183:C:A 2,.,. -1 -1 -1 -1 -1 -1 127,.,. 1,.,. recessive HG002 HG002 chr17:24824205:A:T 2,.,. -1 -1 -1 -1 -1 -1 125,.,. 1,.,. recessive HG002 HG002 chr17:24824233:G:T 2,.,. -1 -1 -1 -1 -1 -1 124,.,. 1,.,. recessive HG002 HG002 chr17:24824243:G:C 2,.,. -1 -1 -1 -1 -1 -1 127,.,. 1,.,. recessive HG002 HG002 chr17:24824264:G:T 2,.,. -1 -1 -1 -1 -1 -1 127,.,. 1,.,. recessive HG002 HG002 chr17:24859006:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859025:C:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859092:A:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859307:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859320:G:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859333:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859414:G:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:24859584:C:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859619:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859627:A:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859653:A:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859711:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859809:A:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859845:T:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859881:T:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859888:A:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859918:T:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859924:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859948:T:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:24859976:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:24860001:G:T 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:24860136:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:24860156:G:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24860188:A:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:24860195:T:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:24860211:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:24860212:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:24860217:A:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:24860222:A:AC 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:24860236:A:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24860241:A:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24860243:T:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:24860456:A:AC 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:24860618:A:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24860646:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:24860835:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:24860854:G:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:24860860:T:A 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24860887:G:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24860890:A:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24860897:G:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:24860927:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:24860977:C:A 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24861003:T:A 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24861061:T:G 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24861090:A:C 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24861103:C:A 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24861323:T:C 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:24861341:T:G 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:24861342:C:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:24861348:G:C 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24861354:C:G 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24861361:T:C 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24861374:T:C 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24861422:G:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:24861459:G:C 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24861516:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:24861517:C:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:24861522:A:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24861588:A:G 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24861595:T:G 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24861697:G:T 2,.,. -1 -1 -1 0.00210231 3 6 83,.,. 1,.,. recessive HG002 HG002 chr17:24861839:G:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:24862046:G:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24862101:A:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:24862119:G:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24862125:T:C 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24862127:G:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:24862273:T:C 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:24862339:A:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:24862410:C:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24862416:G:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24862423:G:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:24862428:C:G 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:24862429:C:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:24862458:C:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24862521:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:24862557:T:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:24862576:G:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:24862600:A:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:24862639:G:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:24862647:C:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:24862656:T:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:24862713:G:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:24862758:A:G 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:24862781:A:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:24863061:C:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:24863076:C:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:24863104:T:A 2,.,. -1 -1 -1 -1 -1 -1 95,.,. 1,.,. recessive HG002 HG002 chr17:24863149:T:TA 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:24863169:G:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:24863224:G:T 2,.,. -1 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HG002 HG002 chr17:24863496:A:T 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:24863500:A:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:24863521:C:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:24863528:T:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:24863553:T:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:24863554:G:C 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:24863677:A:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:24863699:G:A 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:24863702:A:C 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:24863717:C:T 2,.,. -1 -1 -1 -1 -1 -1 95,.,. 1,.,. recessive HG002 HG002 chr17:24863736:G:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:24863742:T:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:24863755:A:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:24863769:G:T 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:24863772:A:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:24863779:G:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:24863791:A:T 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:24863809:G:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:24863815:T:C 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:24864029:A:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24864055:G:C 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:24864149:A:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24864193:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864215:C:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864223:T:G 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:24864224:C:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24864230:G:C 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:24864236:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864243:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864256:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864304:G:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:24864328:C:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:24864341:G:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864399:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864404:A:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:24864418:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864449:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864470:A:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864477:T:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864536:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864579:G:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24864689:A:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864718:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864721:G:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864739:A:C 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24864745:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864759:T:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864764:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864808:T:C 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24864884:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864885:A:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864902:G:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24864903:A:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864909:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864915:G:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864922:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864927:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864928:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864935:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864976:G:C 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:24864983:A:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24864998:A:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24865001:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865007:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865009:G:T 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:24865017:A:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865020:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865030:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865056:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865069:GC:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865078:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865079:T:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865100:A:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24865118:A:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24865135:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865156:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865169:A:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865172:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865191:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865216:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865224:A:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865250:A:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865264:C:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24865289:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865308:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865313:C:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24865314:C:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24865343:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865358:A:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865381:T:A 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:24865384:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865406:A:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865448:A:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865461:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865475:T:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865478:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865485:A:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865491:T:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24865493:T:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865497:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865500:T:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865502:C:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865521:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865526:C:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865541:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865545:T:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24865573:G:T 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:24865598:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865599:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865613:A:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865624:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865666:A:T 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:24865733:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865753:G:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24865785:A:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24865792:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865808:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865809:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865814:A:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865818:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865825:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865853:CT:C 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:24865857:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24865858:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866024:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.981308,.,. recessive HG002 HG002 chr17:24866054:G:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24866057:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866070:T:C 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24866089:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866090:T:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866109:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866151:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866156:T:C 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:24866162:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866181:C:A 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr17:24866213:A:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866216:G:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866241:C:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24866242:A:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24866245:C:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24866316:G:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866325:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866370:TA:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866393:A:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866411:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866418:C:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866430:C:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866436:G:T 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:24866438:T:C 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:24866448:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866451:G:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866452:T:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866479:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866488:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866496:G:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866498:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866506:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866525:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866530:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24866554:C:A 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:24866867:C:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.991071,.,. recessive HG002 HG002 chr17:24867075:G:T 2,.,. -1 -1 -1 -1 -1 -1 122,.,. 1,.,. recessive HG002 HG002 chr17:24867096:C:A 2,.,. -1 -1 -1 -1 -1 -1 121,.,. 1,.,. recessive HG002 HG002 chr17:24867189:A:T 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr17:24867196:T:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24867230:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24867247:T:C 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24867271:C:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24867322:A:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24867338:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24867339:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24867390:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24867414:G:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24867428:A:T 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr17:24867455:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24867468:C:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24867470:C:T 2,.,. -1 -1 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chr17:24867692:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24867715:T:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:24867764:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:24867777:G:C 2,.,. -1 -1 -1 -1 -1 -1 101,.,. 1,.,. recessive HG002 HG002 chr17:24867793:G:A 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:24867830:C:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:24867863:G:T 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr17:24867870:A:C 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr17:24867957:G:T 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:24867989:A:T 2,.,. -1 -1 -1 -1 -1 -1 101,.,. 1,.,. recessive HG002 HG002 chr17:24868035:G:C 2,.,. -1 -1 -1 -1 -1 -1 101,.,. 1,.,. recessive HG002 HG002 chr17:24868420:A:T 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:24868597:A:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 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HG002 HG002 chr17:24996225:G:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24996561:T:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24996567:T:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24997057:A:G 2,.,. -1 -1 -1 0.00210231 1 6 10,.,. 1,.,. recessive HG002 HG002 chr17:24997076:T:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24997303:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24997376:T:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24997494:T:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24997551:G:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24997610:T:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24997629:T:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24997855:T:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24998056:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24998132:A:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24998390:T:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24998440:G:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24998447:T:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24998656:G:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24998660:T:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24998677:T:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24998820:T:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:24999403:G:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:25000086:C:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:25002064:A:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25003434:G:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:25004779:A:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25028510:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25028756:T:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25029220:A:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25029304:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25029306:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25029481:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25029594:G:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25029781:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:25030040:A:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:25030213:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:25030241:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:25030266:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:25030321:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:25030493:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:25030529:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:25030573:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:25030638:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:25030657:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:25030661:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:25030884:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:25030950:C:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:25031031:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:25031113:C:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:25031137:A:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25031140:T:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:25031184:A:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:25031433:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25031474:T:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25031479:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25031482:A:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25031618:A:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25031630:G:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25031698:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25031711:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25031929:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25031937:A:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:25032021:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25032119:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25032198:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25032446:C:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:25032466:G:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:25032930:A:T 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr17:25032951:C:T 2,.,. -1 -1 -1 -1 -1 -1 114,.,. 1,.,. recessive HG002 HG002 chr17:25033009:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25033128:C:A 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr17:25033172:T:A 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr17:25033179:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25033199:G:T 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 0.990826,.,. recessive HG002 HG002 chr17:25033261:T:A 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr17:25033402:A:C 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 0.991304,.,. recessive HG002 HG002 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114,.,. 1,.,. recessive HG002 HG002 chr17:25037672:T:G 2,.,. -1 -1 -1 -1 -1 -1 114,.,. 1,.,. recessive HG002 HG002 chr17:25037704:G:T 2,.,. -1 -1 -1 -1 -1 -1 114,.,. 1,.,. recessive HG002 HG002 chr17:25037716:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25037788:C:G 2,.,. -1 -1 -1 -1 -1 -1 114,.,. 1,.,. recessive HG002 HG002 chr17:25038190:G:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25038442:C:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25038459:A:G 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25038530:A:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25038538:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25038543:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25038548:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25038551:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 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83,.,. 1,.,. recessive HG002 HG002 chr17:25038821:A:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25038839:G:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25038845:T:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25038861:T:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25038889:C:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25038915:T:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 0.988095,.,. recessive HG002 HG002 chr17:25038977:G:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 0.988235,.,. recessive HG002 HG002 chr17:25039008:T:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 0.988235,.,. recessive HG002 HG002 chr17:25039015:C:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039039:G:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039060:A:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 0.988095,.,. recessive HG002 HG002 chr17:25039085:G:C 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039141:T:C 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:25039188:A:C 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:25039200:C:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039223:C:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039231:T:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039235:T:C 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039236:G:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039241:A:C 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039253:T:G 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039254:C:A 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:25039257:G:A 2,.,. -1 -1 -1 0.00105116 0 3 84,.,. 1,.,. recessive HG002 HG002 chr17:25039260:G:C 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039266:C:G 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039273:T:C 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039278:C:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039279:T:G 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039286:T:C 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039334:G:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039358:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039368:G:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039371:G:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039391:T:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039406:C:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039407:A:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039428:C:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039429:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039434:A:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039448:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039453:A:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039497:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039500:A:G 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039507:T:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039543:A:G 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039719:A:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039730:A:C 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039747:A:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039748:G:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25039767:C:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25039775:T:A 2,.,. -1 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HG002 chr17:25040842:A:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25040849:T:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25041072:A:C 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25041085:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25041137:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25041290:G:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041344:G:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041353:G:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041366:T:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041420:A:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041426:C:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25041438:T:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041439:G:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041445:C:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041457:C:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041501:T:G 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041523:G:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041525:G:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25041591:A:G 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041606:T:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041639:G:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041672:A:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041686:T:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041699:C:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041724:T:C 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:25041785:A:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041840:G:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041853:C:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041886:C:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25041899:G:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25041907:T:A 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:25057858:G:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:25057987:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:25058235:G:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:25058254:C:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:25058276:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:25058421:A:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:25058433:G:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:25058557:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:25058740:A:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:25058766:A:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:25058958:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:25058994:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:25059001:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:25059088:G:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:25059114:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25059324:G:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:25059732:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25059750:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25059760:T:G 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25059785:T:G 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25059786:G:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:25059822:G:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25059840:G:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:25059909:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25059949:C:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25059968:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25060011:G:A 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25060091:C:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25060117:T:A 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25060217:C:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:25060438:T:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:25060457:C:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:25060463:G:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:25060469:C:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:25060571:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:25060574:G:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25060631:C:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:25060632:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:25060637:A:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:25060651:G:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:25060670:G:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:25060700:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:25060703:A:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:25060950:A:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.982143,.,. recessive HG002 HG002 chr17:25061083:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:25061161:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25061216:A:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:25061288:T:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25061341:G:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:25061424:T:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25061441:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25061532:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25061804:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:25061820:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25061829:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:25062039:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:25062806:C:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:25074728:G:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:25075137:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:25075420:G:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:25075871:C:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:25076165:T:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:25077196:A:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:25077424:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25077898:T:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25078421:A:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25078587:C:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25079003:G:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25079156:G:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25079912:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25080611:T:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25082625:A:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:25083362:C:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:25083748:C:A 2,.,. -1 -1 -1 0.00210231 3 6 10,.,. 1,.,. recessive HG002 HG002 chr17:25085784:T:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:25086464:C:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:25087148:G:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:25087801:C:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:25186138:C:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:25291031:TC:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:25292053:G:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:25292947:T:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:25293103:T:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:25294769:G:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:25294893:C:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:25324154:T:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:25324310:T:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:25324741:T:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:25325256:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:25325277:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:25325325:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:25325528:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:25326217:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:25331572:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:25331573:C:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25331592:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25331595:T:C 2,.,. -1 -1 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chr17:25332386:A:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332414:C:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332429:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332433:TG:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332440:A:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332441:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332503:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332505:G:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332508:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332510:A:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332521:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332533:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332535:C:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332540:T:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332547:A:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332579:C:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332587:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332595:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332608:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332611:C:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332650:G:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332652:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332690:C:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332920:G:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332928:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332936:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332952:A:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332976:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332991:C:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25332996:T:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333065:C:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333083:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333100:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333105:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333147:A:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333180:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333181:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333187:T:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:25333198:A:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333234:C:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333258:A:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333287:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333312:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333316:A:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333335:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333374:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333395:A:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333404:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333416:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333503:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333665:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333668:A:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333789:C:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25333820:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25334120:T:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25334121:C:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:25334140:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25334143:T:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25334154:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25334165:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25334220:G:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25334261:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25334296:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:25336859:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:25337022:C:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:25338315:A:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25338333:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25338343:T:C 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25338543:A:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25338544:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25338548:T:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.982143,.,. recessive HG002 HG002 chr17:25338551:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25338557:T:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25338564:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25338584:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25338674:C:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25338700:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:25338716:A:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25338719:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:25338735:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:25338737:C:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25338749:T:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25338777:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25338824:G:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25338871:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339016:T:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339020:T:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339030:C:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339038:T:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339039:C:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339045:G:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339051:C:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339058:T:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339063:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339071:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:25339084:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:25339112:C:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339153:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339156:G:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339163:C:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339206:T:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339214:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339219:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25339231:T:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339252:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339271:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25339273:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:25339706:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25339756:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25339761:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25339766:G:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25339799:A:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25339806:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25339823:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25339825:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25339840:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25339851:G:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:25339857:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25339867:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25339881:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25339912:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25339914:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25339930:C:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25339932:A:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25339948:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25339949:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25339980:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25339995:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340000:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340005:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340024:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340054:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25340065:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340078:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340080:C:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25340092:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25340099:C:T 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:25340115:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340122:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25340124:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340127:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340129:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340138:A:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25340151:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:25340157:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340186:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25340248:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340249:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340252:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340253:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25340256:T:C 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:25340272:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25340275:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340280:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340302:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340305:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:25340325:T:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:25340374:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340386:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340440:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340458:C:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25340480:A:C 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25340599:A:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25340622:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340632:C:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25340635:T:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25340858:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340903:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25340927:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25341031:A:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25341049:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341059:T:C 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25341246:A:C 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25341257:C:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25341260:A:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25341261:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341265:T:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:25341268:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:25341274:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341281:G:T 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:25341301:G:T 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:25341324:T:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341391:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341417:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341433:A:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341436:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25341452:T:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341454:C:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341461:G:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341479:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25341480:G:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341481:A:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341482:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341491:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341494:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341497:G:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:25341504:A:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25341517:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341541:G:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341576:A:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341587:G:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25341588:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341610:C:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:25341611:C:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:25341627:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341653:T:A 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:25341680:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341691:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341700:A:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25341733:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341737:T:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341747:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341755:T:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341756:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341759:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341762:G:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25341768:C:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341775:T:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341780:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341788:T:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341798:A:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25341829:C:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341847:C:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25341855:G:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341856:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341870:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341873:G:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341880:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341896:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25341914:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341919:A:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25341936:A:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25341969:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25342020:G:A 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25342032:A:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25342422:C:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:25342460:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25342472:G:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25342482:G:C 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:25342515:A:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:25342522:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25342539:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25342541:G:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25342556:T:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25342567:G:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25342573:T:C 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25342628:C:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25342646:C:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25342665:G:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25342711:C:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25342716:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25342740:G:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25342755:C:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25342770:G:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25342794:C:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25342808:T:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25342831:G:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25342838:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25342840:A:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25342964:T:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25342968:C:G 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:25342991:G:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25342996:A:G 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25343071:T:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25343119:G:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25343134:T:G 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:25343156:C:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:25343174:C:G 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25343263:C:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25343338:G:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25343361:G:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25343746:A:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25343764:C:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25343917:GT:G 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:25343924:A:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25343935:A:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25343975:A:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25343976:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25343983:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25343989:T:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25343996:G:T 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:25344016:G:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:25344039:T:C 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:25344106:C:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25344148:A:C 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25344151:C:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25344169:C:G 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25344195:G:C 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25344209:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25344219:A:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25344256:G:C 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:25344297:A:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:25344302:G:C 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25344303:G:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25344470:T:G 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:25344471:C:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:25344477:G:C 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:25344483:C:G 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:25344490:T:C 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:25344495:C:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:25344516:G:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:25344544:C:G 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:25344588:G:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 0.985075,.,. recessive HG002 HG002 chr17:25344595:C:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25344638:T:G 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25344646:C:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25344663:T:G 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25344684:G:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:25344703:G:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25344747:A:C 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:25344971:A:C 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25344984:C:A 2,.,. -1 -1 -1 0.0024527 1 7 75,.,. 1,.,. recessive HG002 HG002 chr17:25345116:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25345137:C:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345141:A:C 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25345159:A:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25345175:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:25345192:G:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345237:T:A 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:25345248:G:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345254:T:C 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345256:G:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25345271:T:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345282:G:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:25345288:T:C 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345312:C:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345343:C:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:25345363:A:G 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:25345379:C:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345380:G:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345411:A:C 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:25345426:C:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345431:T:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345438:T:C 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345455:G:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345485:G:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25345496:C:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345509:C:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345523:T:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345530:C:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345546:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25345553:G:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345555:A:G 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25345558:C:G 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345569:A:C 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345582:C:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25345588:C:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345626:T:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25345679:T:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345680:T:G 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345684:G:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345703:C:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345706:G:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345711:A:G 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345733:C:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345773:T:G 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345817:G:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25345843:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25345849:T:G 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25345871:C:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25346053:G:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25346063:C:G 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25346372:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25346462:A:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25346480:C:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25346605:C:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25346639:A:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25346690:A:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25346691:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:25346704:T:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:25346731:G:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25346754:T:C 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25346821:C:A 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:25346847:T:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:25346863:A:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25346866:C:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 0.986111,.,. recessive HG002 HG002 chr17:25346882:T:C 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:25346884:C:G 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:25346921:C:A 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:25346924:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:25346934:A:C 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:25346947:C:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25346971:G:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25347018:G:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25347121:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:25347163:T:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25347167:T:C 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:25347177:C:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25347185:T:G 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25347186:C:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25347192:G:C 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25347198:C:G 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25347205:T:C 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25347210:C:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25347218:T:C 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:25347231:G:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:25347235:A:G 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:25347259:C:G 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25347300:G:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25347303:G:C 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25347310:C:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25347361:C:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:25347366:A:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25347388:T:A 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:25347399:G:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25347417:C:T 2,.,. -1 -1 -1 0.00105116 1 3 74,.,. 1,.,. recessive HG002 HG002 chr17:25347418:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25347436:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:25347811:G:A 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25347832:G:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:25347853:C:A 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25347891:G:T 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 0.985714,.,. recessive HG002 HG002 chr17:25347964:G:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:25347972:G:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25347987:T:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25348004:T:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25348077:C:G 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 0.985075,.,. recessive HG002 HG002 chr17:25348096:G:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25348142:C:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:25348147:T:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25348171:G:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25348186:C:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25348201:G:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25348225:C:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25348239:T:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25348262:G:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25348269:G:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25348399:C:G 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25348422:G:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25348427:A:G 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25348449:C:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25348559:G:T 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:25348565:T:G 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:25348587:C:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:25348627:A:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:25348694:C:T 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:25348746:A:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:25348769:G:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25348775:A:T 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:25348779:C:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:25348782:T:C 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:25349178:A:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:25349196:C:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:25349404:C:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25349407:A:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25349408:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25349415:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr17:25349458:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25349488:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25349501:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25349572:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:25349580:A:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25349583:C:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:25349605:A:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.982456,.,. recessive HG002 HG002 chr17:25349628:G:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25349629:G:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25349652:A:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25349665:C:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25349667:G:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:25349736:G:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:25349758:C:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25349829:A:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:25349839:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25349886:G:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25349903:T:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25349904:C:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25349910:G:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25349916:C:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25349923:T:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25349995:C:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350018:G:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350021:G:C 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:25350079:C:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350117:G:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350157:T:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350570:C:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25350574:A:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25350592:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25350608:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350625:G:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350627:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25350663:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25350668:A:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:25350681:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350687:T:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25350689:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25350704:T:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350721:T:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350731:T:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350735:T:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350745:C:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350776:C:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350778:A:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350796:A:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25350813:G:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350831:T:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.982759,.,. recessive HG002 HG002 chr17:25350859:C:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350928:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25350942:C:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350967:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25350977:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr17:25350984:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25350986:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25351019:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25351107:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.983051,.,. recessive HG002 HG002 chr17:25351110:T:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25351111:T:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25351115:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25351137:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25351142:A:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25351161:A:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25351164:C:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25351167:T:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25351169:T:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25351173:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.983051,.,. recessive HG002 HG002 chr17:25351174:C:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25351183:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25351186:G:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25351200:G:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr17:25351202:C:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25351204:T:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25351236:G:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.983333,.,. recessive HG002 HG002 chr17:25351319:A:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25351342:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.983051,.,. recessive HG002 HG002 chr17:25351484:G:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:25351488:A:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25351490:A:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25351494:C:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25351497:T:C 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:25351510:A:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25351746:T:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25351766:T:G 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:25351785:G:T 2,.,. -1 -1 -1 0.00315347 4 9 64,.,. 1,.,. recessive HG002 HG002 chr17:25351827:T:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25351876:C:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25351889:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25351893:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25351901:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25351906:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25351972:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352014:T:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352036:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352037:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352046:TA:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352059:T:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352117:G:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352119:C:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352122:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352123:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352130:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352146:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352149:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352166:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352173:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352176:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352181:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352185:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352195:A:C 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25352203:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352209:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352212:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352214:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352216:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352279:T:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352287:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352293:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352295:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352298:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352317:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352318:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352330:T:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352337:T:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25352341:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352342:G:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352343:A:C 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25352344:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352353:C:A 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25352366:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352372:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352379:C:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352381:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352403:G:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352419:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352472:C:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25352487:G:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352489:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352505:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352506:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352510:C:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352524:A:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25352537:C:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352540:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352552:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352553:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352557:A:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25352562:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352564:C:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:25352587:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352600:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352605:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352617:T:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352618:C:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352624:G:C 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25352630:C:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352637:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352642:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352650:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352660:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352662:T:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352698:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352703:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352705:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352709:C:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352711:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352713:T:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352724:T:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352732:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352735:G:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352753:C:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:25352755:T:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352771:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352774:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:25352793:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352798:A:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352804:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352812:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352817:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352831:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352868:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352871:T:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352879:CG:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352887:T:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25352890:T:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25353086:G:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25353120:G:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25353139:T:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25353202:T:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25353209:T:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25353212:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25353223:G:GA 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:25353424:C:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25353499:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25353539:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25353563:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25353564:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25353574:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25353627:A:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:25388668:T:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:25388930:A:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:25388931:T:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:25389094:A:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:25389174:A:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:25389440:A:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:25389498:G:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:25389632:T:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25389675:A:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:25389711:C:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:25389735:T:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:25389944:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25389976:A:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25389999:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25390000:G:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25390335:T:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25390341:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25390360:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25390367:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25390584:A:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25390640:T:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25390643:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25390679:A:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25390680:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25390686:G:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:25390716:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25390722:T:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25390792:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25391307:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25391736:C:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25391836:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25391891:A:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25392087:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25392122:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25392156:A:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25392214:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25392391:A:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 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recessive HG002 HG002 chr17:25394417:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25394842:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25395328:A:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25395433:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25395556:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25395713:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25395800:A:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25395837:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25396029:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25396043:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25396051:T:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25396052:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25396064:C:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25396071:T:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25397106:A:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:25397320:C:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:25397474:T:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:25397529:A:C 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:25397641:T:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:25398027:T:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:25438360:C:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:25438654:G:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:25439045:G:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:25439258:C:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:25440396:T:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:25440689:C:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:25441368:G:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:25441759:G:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:25442671:A:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:25443056:T:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:25443372:T:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:25443386:C:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:25443401:G:C 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:25443407:C:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:25443575:A:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:25444477:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:25445387:A:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:25453554:C:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:25453607:T:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:25464902:T:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:25466437:T:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:25480825:T:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:25480945:G:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:25481281:T:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:25481287:T:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:25481746:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:25481752:A:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:25482023:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:25482096:T:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:25482775:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:25483396:T:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:25529267:G:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:25529322:A:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:25529478:G:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:25529886:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25529939:T:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25530063:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25530165:G:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25530195:G:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25530201:T:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25530237:T:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25530245:C:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25530271:T:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25530329:T:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25530579:C:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25530610:C:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25530622:C:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25530763:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:25530790:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:25530856:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:25531105:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25531124:C:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25531237:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25531290:A:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25531302:G:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:25531322:C:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25531609:A:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25531635:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25531686:G:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25531827:T:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25531870:A:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:25531957:G:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25531958:G:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25531983:G:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:25532194:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25532602:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25532655:T:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25532723:T:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25532875:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25532882:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25532912:G:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25532918:T:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25532948:A:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25532954:T:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25532962:C:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25532988:T:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25532989:T:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25533345:T:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25533395:A:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25533430:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25533631:G:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25533652:C:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:25622924:T:C 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25623051:G:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25623072:C:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25623132:G:C 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25623165:A:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:25623172:T:A 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:25623315:G:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25623361:T:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25623366:T:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25623446:C:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 0.990909,.,. recessive HG002 HG002 chr17:25623614:T:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25623615:T:G 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25623618:C:G 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:25623641:G:A 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:25623668:C:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25623671:T:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25623682:C:G 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:25623691:T:A 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:25623740:G:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25623801:A:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 0.990909,.,. recessive HG002 HG002 chr17:25623851:T:G 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 0.990826,.,. recessive HG002 HG002 chr17:25623856:T:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25623933:G:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25623965:A:T 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:25624015:C:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624068:C:A 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 0.990826,.,. recessive HG002 HG002 chr17:25624224:A:C 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624234:G:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624239:A:C 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624269:C:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624289:G:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624309:T:C 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 0.990909,.,. recessive HG002 HG002 chr17:25624326:C:A 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:25624369:A:C 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 0.981818,.,. recessive HG002 HG002 chr17:25624397:A:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624465:C:T 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:25624505:G:T 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:25624540:C:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624550:TA:T 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:25624626:A:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624640:T:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624647:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:25624667:G:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25624690:T:C 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624783:T:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624813:T:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 0.990909,.,. recessive HG002 HG002 chr17:25624846:G:C 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624857:C:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624860:G:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624861:T:C 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25624944:G:C 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:25624948:A:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25624953:G:C 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25624954:G:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25625019:T:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625022:T:C 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.991071,.,. recessive HG002 HG002 chr17:25625025:A:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625026:A:G 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 0.981818,.,. recessive HG002 HG002 chr17:25625046:G:A 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25625047:A:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25625057:G:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25625066:A:G 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25625099:T:A 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625103:T:C 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625113:C:A 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625120:G:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 0.981818,.,. recessive HG002 HG002 chr17:25625121:T:G 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625122:C:A 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625128:G:C 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 0.981818,.,. recessive HG002 HG002 chr17:25625134:C:G 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625141:T:C 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625146:C:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625153:G:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625154:T:C 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625164:A:G 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625167:G:A 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625195:C:G 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625213:C:G 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625221:G:C 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625222:G:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625236:G:A 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625239:G:C 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625296:C:T 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:25625302:A:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25625315:T:C 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625324:T:A 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25625335:G:A 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625354:G:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25625398:A:C 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625408:C:G 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:25625434:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25625441:T:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625452:A:C 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625455:G:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 0.990909,.,. recessive HG002 HG002 chr17:25625465:T:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.990991,.,. recessive HG002 HG002 chr17:25625480:T:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625481:T:G 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625485:G:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625488:T:G 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625500:T:G 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625505:A:G 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625507:G:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625510:C:G 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625529:C:G 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625531:A:G 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625534:C:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625537:T:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625543:T:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625544:C:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625550:A:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625553:C:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625557:T:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625559:C:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.990991,.,. recessive HG002 HG002 chr17:25625566:G:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625567:C:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625569:T:G 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25625574:T:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 0.981818,.,. recessive HG002 HG002 chr17:25625659:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625678:G:A 2,.,. -1 -1 -1 0.00140154 2 4 113,.,. 1,.,. recessive HG002 HG002 chr17:25625767:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625788:C:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625789:C:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25625792:A:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625804:A:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25625809:TA:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625819:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25625823:T:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25625826:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625838:G:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25625843:G:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625845:A:G 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25625848:G:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625859:G:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25625867:G:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25625869:G:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25625872:T:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25625875:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25625881:A:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25625882:T:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25625886:A:C 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25625888:T:A 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25625891:A:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25625895:A:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25625899:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625904:A:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25625905:T:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625907:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625912:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25625922:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625933:G:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625939:T:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625949:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625953:T:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625963:C:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25625975:T:C 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25625994:C:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25625996:A:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25626003:A:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25626012:C:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626014:A:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626030:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626031:G:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626033:T:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626038:G:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626062:A:C 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.991071,.,. recessive HG002 HG002 chr17:25626065:A:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.99115,.,. recessive HG002 HG002 chr17:25626077:C:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626082:T:A 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25626086:AG:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:25626088:G:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626090:T:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626099:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626107:G:A 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25626121:A:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25626122:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626125:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626126:A:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626135:A:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626137:G:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626143:G:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25626144:A:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626148:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626156:G:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626161:C:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626163:C:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25626168:T:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626175:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626176:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626182:C:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25626183:T:C 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25626186:G:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626188:C:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25626189:A:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626193:G:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626198:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626205:G:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25626210:C:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626212:T:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626217:G:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626219:A:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626221:A:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626222:T:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626224:T:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626225:C:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25626234:C:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25626235:G:C 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25626240:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626243:C:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626256:T:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626258:A:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626259:T:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626261:C:G 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25626269:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626278:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626292:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626306:C:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626308:C:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626317:C:G 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25626331:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626332:T:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626335:C:G 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25626336:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.99115,.,. recessive HG002 HG002 chr17:25626339:T:C 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25626340:G:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626343:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626355:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626356:A:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626358:G:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626363:A:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626385:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626388:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626408:T:A 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25626409:A:G 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25626410:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626423:C:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626425:T:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626429:G:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25626438:T:A 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25626449:A:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626457:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626462:A:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626467:G:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626470:G:C 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25626482:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626486:G:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626488:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626495:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626501:T:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626504:C:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626518:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626523:C:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25626525:G:C 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.991071,.,. recessive HG002 HG002 chr17:25626541:C:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626543:T:C 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25626551:C:G 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25626556:G:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25626562:A:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626563:A:C 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25626565:T:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626566:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626568:T:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626575:C:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626581:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626587:A:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626589:C:G 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:25626591:G:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626596:A:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626598:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626615:C:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626618:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626622:C:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25626629:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626630:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626640:C:G 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25626647:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626650:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626655:C:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626657:T:TC 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25626658:T:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626665:T:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626668:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626669:T:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626673:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626676:T:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626682:A:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25626689:T:G 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25626697:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626705:G:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25626709:T:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626715:C:A 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:25626718:T:G 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 0.990909,.,. recessive HG002 HG002 chr17:25626727:A:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626728:G:C 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.991071,.,. recessive HG002 HG002 chr17:25626731:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.99115,.,. recessive HG002 HG002 chr17:25626748:A:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626753:C:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25626770:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626778:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626784:C:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626785:C:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626791:C:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626796:T:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626798:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626806:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626816:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626824:C:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626827:T:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626835:A:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626842:C:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25626853:T:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25626885:T:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25627113:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25627119:A:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25627120:A:C 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25627131:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25627133:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25627138:G:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25627141:T:C 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25627151:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25627159:A:C 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 0.981982,.,. recessive HG002 HG002 chr17:25627162:C:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25627166:TG:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25627171:G:A 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25627173:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25627181:C:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25627189:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.982301,.,. recessive HG002 HG002 chr17:25627202:T:A 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 0.982143,.,. recessive HG002 HG002 chr17:25627219:A:G 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25627221:G:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25627290:A:T 2,.,. -1 -1 -1 -1 -1 -1 113,.,. 1,.,. recessive HG002 HG002 chr17:25627301:A:T 2,.,. -1 -1 -1 -1 -1 -1 114,.,. 0.991228,.,. recessive HG002 HG002 chr17:25627312:G:C 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:25627327:A:C 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 0.990476,.,. recessive HG002 HG002 chr17:25627338:C:T 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:25627341:A:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 0.990566,.,. recessive HG002 HG002 chr17:25627346:T:G 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 0.980952,.,. recessive HG002 HG002 chr17:25627349:G:T 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 0.980952,.,. recessive HG002 HG002 chr17:25627355:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:25627362:G:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25627405:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.990654,.,. recessive HG002 HG002 chr17:25627422:G:A 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 0.990476,.,. recessive HG002 HG002 chr17:25627435:C:A 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:25627444:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:25627472:C:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:25627498:T:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:25627505:T:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 0.981132,.,. recessive HG002 HG002 chr17:25627514:A:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:25627517:C:T 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:25627533:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.990654,.,. recessive HG002 HG002 chr17:25627535:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:25627553:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.981308,.,. recessive HG002 HG002 chr17:25627561:G:C 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:25627562:A:C 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:25627563:G:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:25627566:T:G 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 0.980952,.,. recessive HG002 HG002 chr17:25627572:C:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.990654,.,. recessive HG002 HG002 chr17:25627573:C:A 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 0.990476,.,. recessive HG002 HG002 chr17:25627575:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:25627578:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:25627585:A:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:25627598:C:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:25627643:A:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.981308,.,. recessive HG002 HG002 chr17:25627657:A:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.981308,.,. recessive HG002 HG002 chr17:25627668:G:C 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.990741,.,. recessive HG002 HG002 chr17:25627669:G:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:25627682:C:G 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:25627688:T:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 0.981132,.,. recessive HG002 HG002 chr17:25627691:C:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:25627692:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:25627695:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:25627704:C:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:25627708:G:A 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627729:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:25627734:T:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 0.981132,.,. recessive HG002 HG002 chr17:25627737:T:C 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627740:A:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627761:G:A 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:25627762:A:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:25627772:G:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:25627777:G:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:25627781:A:G 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627814:T:A 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627818:T:C 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627828:C:A 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627836:T:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.981308,.,. recessive HG002 HG002 chr17:25627843:G:C 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627849:C:G 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627856:T:C 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627861:C:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627869:T:C 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627879:A:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.981308,.,. recessive HG002 HG002 chr17:25627882:G:A 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627910:C:G 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627928:C:G 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627936:G:C 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627937:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.981308,.,. recessive HG002 HG002 chr17:25627951:G:A 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 chr17:25627954:G:C 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 0.981481,.,. recessive HG002 HG002 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1,.,. recessive HG002 HG002 chr17:25629952:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25629989:G:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:25630047:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:25630057:C:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25630085:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25630118:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25630122:G:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:25630125:T:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25630436:G:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:25630689:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25630744:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:25630781:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25630828:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25630840:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:25630911:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25630955:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25630957:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25630990:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:25631042:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:25631053:A:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:25631056:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25631059:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25631081:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25631085:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25631108:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25631135:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25631173:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25631175:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25631461:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25631465:C:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25631468:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25631864:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25631918:G:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:25631943:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25631947:C:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25632041:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25632143:G:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25632173:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25632186:G:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:25632249:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25632265:A:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25632268:C:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25632313:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25632323:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25632326:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25632336:A:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25632350:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:25632373:G:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25632442:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25632763:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25632768:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25632790:T:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25632813:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25632838:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25632841:T:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25633088:A:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25633101:C:A 2,.,. -1 -1 -1 0.00280308 4 8 44,.,. 1,.,. recessive HG002 HG002 chr17:25633309:G:A 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:25633347:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25633371:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25633373:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25633388:T:A 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:25633405:T:C 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:25633419:T:C 2,.,. -1 -1 -1 -1 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2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:25633670:G:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:25633672:A:G 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:25633705:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25633823:G:A 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:25633828:A:G 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:25633850:C:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:25633853:T:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25633888:C:A 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:25633890:T:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25634170:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25634579:A:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:25634790:T:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 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recessive HG002 HG002 chr17:25635479:C:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25635484:A:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25635554:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:25635557:T:G 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25635949:G:T 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25635970:C:A 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25635992:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:25636020:G:T 2,.,. -1 -1 -1 -1 -1 -1 95,.,. 1,.,. recessive HG002 HG002 chr17:25636025:G:A 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636070:T:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25636081:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25636087:T:C 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636104:T:A 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636115:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25636121:T:C 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636145:C:A 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636176:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25636212:C:T 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636213:G:A 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25636220:G:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25636244:A:C 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25636247:A:G 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 0.989583,.,. recessive HG002 HG002 chr17:25636259:C:A 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636269:G:A 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636271:T:C 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636288:G:A 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25636318:G:A 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636342:C:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25636356:T:A 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636363:C:T 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25636379:G:T 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636386:G:T 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636388:A:G 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636400:A:G 2,.,. -1 -1 -1 -1 -1 -1 95,.,. 1,.,. recessive HG002 HG002 chr17:25636421:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25636450:G:T 2,.,. -1 -1 -1 -1 -1 -1 95,.,. 1,.,. recessive HG002 HG002 chr17:25636516:C:G 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636536:C:T 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636539:G:A 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636544:A:G 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636566:C:T 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636606:T:G 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25636886:G:T 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636892:A:T 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 0.989583,.,. recessive HG002 HG002 chr17:25636896:C:G 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25636899:T:C 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25637158:A:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25637234:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25637258:G:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25637294:A:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25637312:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25637399:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25637527:T:G 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 0.988372,.,. recessive HG002 HG002 chr17:25637530:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 0.988506,.,. recessive HG002 HG002 chr17:25637536:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25637543:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25637563:G:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25637625:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25637653:C:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25637679:T:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25637695:A:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25637698:C:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25637716:C:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25637742:G:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25637756:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25637766:A:C 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:25637779:C:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25637803:G:C 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:25637849:G:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25637850:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25637872:C:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:25637873:C:G 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:25637876:T:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:25638193:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25638198:A:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25638212:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25638220:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25638250:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25638551:C:G 2,.,. -1 -1 -1 0.0024527 2 7 85,.,. 1,.,. recessive HG002 HG002 chr17:25638642:G:A 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:25638663:G:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638684:C:A 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638688:A:C 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638734:G:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638739:G:A 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638744:G:C 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638777:A:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:25638784:T:A 2,.,. -1 -1 -1 -1 -1 -1 91,.,. 1,.,. recessive HG002 HG002 chr17:25638795:G:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638801:T:C 2,.,. -1 -1 -1 -1 -1 -1 91,.,. 1,.,. recessive HG002 HG002 chr17:25638803:G:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638818:T:A 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638829:G:A 2,.,. -1 -1 -1 -1 -1 -1 91,.,. 1,.,. recessive HG002 HG002 chr17:25638848:T:A 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638862:C:A 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638893:C:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638895:A:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638911:C:G 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638913:A:G 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638929:C:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638930:G:A 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638964:A:G 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638976:C:A 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638981:T:A 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25638988:T:C 2,.,. -1 -1 -1 -1 -1 -1 91,.,. 1,.,. recessive HG002 HG002 chr17:25639005:G:A 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639035:G:A 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 0.98913,.,. recessive HG002 HG002 chr17:25639046:C:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639059:C:A 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639073:T:A 2,.,. -1 -1 -1 -1 -1 -1 91,.,. 1,.,. recessive HG002 HG002 chr17:25639080:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25639096:G:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639103:G:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639105:A:G 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639108:C:G 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639110:T:G 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639119:A:C 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25639132:C:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25639138:C:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639167:G:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639176:T:A 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 0.98913,.,. recessive HG002 HG002 chr17:25639230:T:G 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639233:C:G 2,.,. -1 -1 -1 -1 -1 -1 91,.,. 1,.,. recessive HG002 HG002 chr17:25639234:G:T 2,.,. -1 -1 -1 -1 -1 -1 91,.,. 1,.,. recessive HG002 HG002 chr17:25639253:C:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639256:G:A 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639261:A:G 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639283:C:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639323:T:G 2,.,. -1 -1 -1 -1 -1 -1 91,.,. 1,.,. recessive HG002 HG002 chr17:25639336:T:A 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639355:G:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639377:GT:G 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639394:G:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 0.98913,.,. recessive HG002 HG002 chr17:25639422:C:T 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:25639440:C:G 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639529:C:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639604:G:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639610:A:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 0.98913,.,. recessive HG002 HG002 chr17:25639614:C:G 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25639617:T:C 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25639829:A:C 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25640012:A:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25640030:C:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25640040:T:C 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:25640084:C:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25640190:A:T 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:25640201:A:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:25640227:A:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:25640241:A:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:25640242:G:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:25640249:G:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:25640255:T:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:25640262:G:T 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:25640282:G:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:25640305:T:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:25640344:T:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25640372:C:A 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:25640414:A:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25640417:C:T 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:25640435:C:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25640442:G:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25640461:G:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25640475:G:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25640485:A:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25640522:G:C 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25640568:G:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25640591:C:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25640592:C:G 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25640595:T:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25640673:G:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25640720:G:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:25640737:T:G 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:25640738:C:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 0.987654,.,. recessive HG002 HG002 chr17:25640744:G:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 0.987654,.,. recessive HG002 HG002 chr17:25640750:C:G 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:25640757:T:C 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:25640762:C:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:25640783:G:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:25640787:A:G 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:25640811:C:G 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:25640852:G:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:25640855:G:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:25640913:C:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25640951:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:25640970:G:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:25640988:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25641014:A:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:25641383:G:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:25641394:A:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:25641404:C:A 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:25641408:A:C 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 0.987952,.,. recessive HG002 HG002 chr17:25641442:G:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25641454:G:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25641459:G:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:25641464:G:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 0.987654,.,. recessive HG002 HG002 chr17:25641497:A:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:25641504:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641521:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641538:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641555:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641565:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:25641579:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641610:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25641622:G:C 2,.,. -1 -1 -1 0.00175193 2 5 80,.,. 1,.,. recessive HG002 HG002 chr17:25641628:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641630:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:25641646:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641647:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641693:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641698:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:25641703:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641705:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641722:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25641736:A:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25641737:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641752:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641763:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:25641776:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25641790:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641797:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641813:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641820:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641822:A:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:25641825:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:25641836:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:25641849:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:25641855:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25641884:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641907:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:25641947:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:25641950:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641951:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:25641954:T:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 0.985075,.,. recessive HG002 HG002 chr17:25641970:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641973:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25641978:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25642000:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25642023:T:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25642040:T:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25642072:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:25642101:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:25642110:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:25642138:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:25642156:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:25642245:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25642304:T:G 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 0.985294,.,. recessive HG002 HG002 chr17:25642320:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25642343:G:C 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:25642728:A:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25642741:G:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25642746:C:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:25642756:T:C 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:25642796:C:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25642906:A:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:25642971:T:A 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:25642978:G:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:25642998:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr17:25643038:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:25643151:C:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25643158:G:C 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:25643176:G:A 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:25643435:G:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:25643452:T:G 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:25643453:C:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:25643456:G:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:25643459:G:C 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:25643465:C:G 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:25643472:T:C 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 0.984375,.,. recessive HG002 HG002 chr17:25643485:T:C 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:25643498:G:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:25643544:C:G 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:25643567:G:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:25643577:C:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25643628:C:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:25643647:G:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25643685:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25643851:C:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:25644098:G:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:25644119:C:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25644219:T:A 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 0.984375,.,. recessive HG002 HG002 chr17:25644253:T:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25644270:T:C 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25644325:C:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:25644343:C:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:25644362:G:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25644408:C:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:25644413:T:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25644467:G:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25644491:C:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:25644528:G:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25644537:A:G 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25644570:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25644665:C:G 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25644666:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25644688:G:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25644693:A:G 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25644715:C:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25644738:T:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25644787:G:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 0.984848,.,. recessive HG002 HG002 chr17:25644825:G:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 0.985075,.,. recessive HG002 HG002 chr17:25644853:C:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr17:25644980:G:T 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:25645035:G:T 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:25645045:C:G 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:25645048:T:C 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:25645699:T:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.982143,.,. recessive HG002 HG002 chr17:25645787:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:25646164:T:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:25646264:C:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:25646503:T:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:25646699:G:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:25646758:T:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:25647002:G:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:25647587:G:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:25648087:G:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:25681705:G:C 2,.,. -1 -1 -1 0.00210231 3 6 7,.,. 1,.,. recessive HG002 HG002 chr17:25681764:G:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:25692204:G:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25692669:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25693054:T:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:25693371:T:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:25693385:C:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:25693400:G:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:25693406:C:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:25693569:C:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:25693574:A:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:25693792:C:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:25694653:A:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:25694998:GC:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:25695129:C:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:25695432:G:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:25709501:T:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:25831099:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:25831943:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:25832233:A:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:25832243:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:25832248:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:25832551:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:25832585:C:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:25844274:C:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:25844459:C:G 2,.,. -1 -1 -1 0.00210231 3 6 22,.,. 1,.,. recessive HG002 HG002 chr17:25844466:C:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:25844512:T:C 2,.,. -1 -1 -1 0.00280308 4 8 22,.,. 1,.,. recessive HG002 HG002 chr17:25844946:G:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:25845044:T:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:25845558:C:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:25845848:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25845859:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25845861:A:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25845876:A:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25845877:G:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25845880:T:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25845898:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25845899:T:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25845904:T:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25845918:T:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25845937:A:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846000:T:TAAA 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25846009:G:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846043:C:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846061:G:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846062:A:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846068:C:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846074:G:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846081:C:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846086:T:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846087:G:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846142:A:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846168:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25846189:C:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846200:T:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846210:T:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846214:T:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846267:G:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846329:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25846338:C:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846367:G:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:25846373:C:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846381:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25846407:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25846421:C:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846446:G:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846458:G:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846465:G:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846467:A:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846500:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25846515:A:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846519:C:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846538:T:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846541:T:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846563:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:25846596:G:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.983333,.,. recessive HG002 HG002 chr17:25846599:T:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.983333,.,. recessive HG002 HG002 chr17:25846615:C:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846618:G:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846635:T:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846642:A:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846654:T:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846672:T:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846678:C:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846702:T:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:25846730:G:T 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:25846755:G:T 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:25846756:C:G 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:25846761:T:G 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:25846781:T:A 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:25846792:C:G 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:25846816:G:C 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:25846890:C:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25846910:G:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25846942:A:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25846949:T:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25846965:G:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25846966:G:A 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25846971:A:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25846975:C:G 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25846995:A:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847147:T:C 2,.,. -1 -1 -1 0.00280308 4 8 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:25847226:T:C 2,.,. -1 -1 -1 0.00280308 4 8 73,.,. 1,.,. recessive HG002 HG002 chr17:25847246:T:G 2,.,. -1 -1 -1 0.00140154 2 4 73,.,. 1,.,. recessive HG002 HG002 chr17:25847278:G:A 2,.,. -1 -1 -1 0.00210231 3 6 73,.,. 1,.,. recessive HG002 HG002 chr17:25847279:G:C 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:25847301:T:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847302:A:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847307:T:A 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 0.986111,.,. recessive HG002 HG002 chr17:25847311:G:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847368:A:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847372:A:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847393:C:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847400:T:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847425:T:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847426:G:C 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:25847431:G:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847451:A:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25847462:G:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847480:G:A 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847537:T:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847549:A:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847574:A:C 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25847589:C:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847605:T:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 0.986111,.,. recessive HG002 HG002 chr17:25847608:G:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 0.986111,.,. recessive HG002 HG002 chr17:25847624:T:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847627:A:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847641:G:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847644:A:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25847651:G:A 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847663:A:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847687:T:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847692:A:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847717:A:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847723:T:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847731:C:A 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847757:T:A 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847771:A:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847795:C:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847796:A:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847815:T:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847850:T:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847857:C:A 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25847881:G:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847892:C:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25847902:A:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25847906:C:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25848043:C:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25848066:C:T 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25848078:T:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25848079:G:A 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25848084:A:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25848097:C:A 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25848103:G:C 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25848109:C:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25848116:T:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25848122:T:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25848129:T:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25848177:G:A 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25848190:A:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:25848201:C:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:25848214:G:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25848234:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25848249:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25848253:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25848271:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25848272:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25848277:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25848283:A:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25848291:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25848296:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25848310:G:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25848340:C:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25848343:A:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25848347:G:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25848373:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25848594:G:C 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25848613:T:C 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 0.988636,.,. recessive HG002 HG002 chr17:25848723:G:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 0.988764,.,. recessive HG002 HG002 chr17:25848757:C:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 0.988764,.,. recessive HG002 HG002 chr17:25848763:C:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25848767:A:C 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25848776:A:C 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 0.988764,.,. recessive HG002 HG002 chr17:25848785:A:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25848788:G:C 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 0.988764,.,. recessive HG002 HG002 chr17:25848861:A:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25848880:T:C 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25848882:G:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25848912:A:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25848914:T:C 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25848924:T:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25848928:T:C 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25848950:T:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25848981:G:C 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25849006:G:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849040:A:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25849052:C:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849064:T:C 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25849095:A:C 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25849121:A:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25849135:C:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849160:G:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849172:G:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849179:G:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849181:A:G 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25849184:C:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25849214:C:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849221:A:C 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849229:A:G 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849278:A:G 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25849320:A:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849330:C:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849333:G:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849338:A:G 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849347:T:G 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849350:T:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 0.988764,.,. recessive HG002 HG002 chr17:25849357:A:G 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849360:C:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25849363:T:A 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25849369:T:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849393:C:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849398:C:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849417:T:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849425:T:C 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849435:T:C 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25849438:T:C 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25849445:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25849470:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25849496:T:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25849521:G:T 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25849525:A:G 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25849538:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25849681:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25849729:C:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850017:T:G 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25850023:T:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850028:T:C 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25850034:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850043:T:A 2,.,. -1 -1 -1 -1 -1 -1 91,.,. 1,.,. recessive HG002 HG002 chr17:25850067:C:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25850069:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 0.989362,.,. recessive HG002 HG002 chr17:25850072:C:A 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850076:A:G 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850085:A:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25850089:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850097:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850102:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850104:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850107:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850110:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850117:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850133:A:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 0.989362,.,. recessive HG002 HG002 chr17:25850148:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850157:C:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850168:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850173:T:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850188:G:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850197:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850210:T:A 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850227:TA:T 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 0.989247,.,. recessive HG002 HG002 chr17:25850231:A:T 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850232:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850233:A:T 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850242:TA:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850255:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850264:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850267:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850278:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850289:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850292:A:C 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850294:A:C 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 0.989247,.,. recessive HG002 HG002 chr17:25850307:C:T 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 0.989247,.,. recessive HG002 HG002 chr17:25850313:G:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850315:C:A 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850318:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850319:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850323:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 0.989362,.,. recessive HG002 HG002 chr17:25850326:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850332:T:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850339:G:T 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850342:T:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850345:A:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850350:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850359:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850362:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850369:G:A 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850372:T:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850375:A:T 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850377:G:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25850381:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850382:T:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850386:A:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850388:T:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850391:A:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850394:A:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850395:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850399:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850405:T:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850408:A:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850410:A:C 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850412:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850421:T:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850427:T:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850435:A:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850441:T:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850475:T:A 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850483:C:T 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850489:A:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850491:A:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850494:C:T 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850503:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850510:T:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 0.989362,.,. recessive HG002 HG002 chr17:25850512:C:G 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850513:C:T 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850514:A:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850516:A:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850519:G:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850526:T:G 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850533:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850535:T:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850537:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850538:G:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850539:A:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850540:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850547:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850549:C:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850550:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850552:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850562:A:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850568:T:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850575:C:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850577:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850589:T:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850599:G:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850610:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850613:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850620:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850624:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850634:A:C 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850645:G:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850646:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850659:C:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850665:T:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 0.989362,.,. recessive HG002 HG002 chr17:25850667:T:A 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 0.989247,.,. recessive HG002 HG002 chr17:25850668:C:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25850672:T:A 2,.,. -1 -1 -1 -1 -1 -1 91,.,. 1,.,. recessive HG002 HG002 chr17:25850681:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850683:G:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850685:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850701:T:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850702:A:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850708:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 0.989362,.,. recessive HG002 HG002 chr17:25850711:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850717:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850720:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850723:T:G 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850726:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850733:C:A 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850736:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 0.989362,.,. recessive HG002 HG002 chr17:25850738:T:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850756:A:G 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25850778:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850781:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850793:T:C 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850794:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850799:A:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850803:C:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850811:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850812:C:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850818:G:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850821:T:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850824:C:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850831:T:C 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850836:C:T 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25850837:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850844:T:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 0.989362,.,. recessive HG002 HG002 chr17:25850849:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850854:A:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850856:T:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850857:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850859:C:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850885:C:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850892:G:A 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850897:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850899:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850903:C:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850905:A:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850907:T:A 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850910:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850916:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850918:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850926:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850929:G:C 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850936:C:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850947:C:A 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850949:T:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850964:C:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850965:A:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850968:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850986:C:A 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25850987:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850992:A:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25850998:A:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25851006:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25851011:A:G 2,.,. -1 -1 -1 -1 -1 -1 92,.,. 1,.,. recessive HG002 HG002 chr17:25851014:T:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25851016:T:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25851025:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25851032:G:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25851043:C:T 2,.,. -1 -1 -1 0.00175193 2 5 92,.,. 1,.,. recessive HG002 HG002 chr17:25851055:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25851058:A:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25851062:G:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25851065:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 0.989362,.,. recessive HG002 HG002 chr17:25851076:GA:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25851081:T:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25851084:T:G 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25851289:A:C 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 0.991525,.,. recessive HG002 HG002 chr17:25851291:A:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.991597,.,. recessive HG002 HG002 chr17:25851294:T:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851306:A:C 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 0.991525,.,. recessive HG002 HG002 chr17:25851307:G:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851310:T:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851313:A:C 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851322:C:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851326:C:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851328:A:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851329:T:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.983333,.,. recessive HG002 HG002 chr17:25851334:T:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851340:G:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851347:G:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851348:T:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851353:G:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851356:A:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851358:A:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851367:A:G 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.991597,.,. recessive HG002 HG002 chr17:25851374:A:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851386:T:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851397:T:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851400:G:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851404:T:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851407:G:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851418:G:GA 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 0.991379,.,. recessive HG002 HG002 chr17:25851422:A:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851425:G:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.991597,.,. recessive HG002 HG002 chr17:25851429:C:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851439:G:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.983333,.,. recessive HG002 HG002 chr17:25851458:G:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851461:T:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851474:A:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.983333,.,. recessive HG002 HG002 chr17:25851479:C:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851483:A:C 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851491:G:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.991597,.,. recessive HG002 HG002 chr17:25851492:A:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851498:C:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851501:A:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851504:G:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851511:C:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851516:T:C 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.983193,.,. recessive HG002 HG002 chr17:25851517:G:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851524:C:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851529:G:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851534:G:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851536:A:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851537:A:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851539:G:C 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851556:GA:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851566:G:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851578:A:G 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr17:25851580:T:A 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:25851584:G:C 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 0.991453,.,. recessive HG002 HG002 chr17:25851588:A:T 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 0.991453,.,. recessive HG002 HG002 chr17:25851591:G:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851593:T:G 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.991597,.,. recessive HG002 HG002 chr17:25851597:T:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851599:G:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851607:A:G 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.991597,.,. recessive HG002 HG002 chr17:25851610:C:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851614:T:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851620:C:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851625:G:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851631:T:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851634:G:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851641:T:A 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851645:T:C 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851655:C:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851666:C:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851675:G:T 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 0.991453,.,. recessive HG002 HG002 chr17:25851686:C:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851688:A:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851689:T:C 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 0.982906,.,. recessive HG002 HG002 chr17:25851693:A:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.983333,.,. recessive HG002 HG002 chr17:25851704:C:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851706:A:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851722:C:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851723:G:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851732:G:A 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:25851738:T:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851741:T:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851744:G:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851754:A:C 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 1,.,. recessive HG002 HG002 chr17:25851757:A:G 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:25851759:A:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851760:T:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851769:C:A 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851774:T:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851779:G:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851781:T:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851798:G:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851804:C:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.991597,.,. recessive HG002 HG002 chr17:25851812:A:C 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851838:A:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851846:T:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851852:C:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851854:C:A 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851857:T:C 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:25851866:T:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851873:C:T 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:25851875:G:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851876:T:C 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851879:C:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851883:C:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851889:G:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25851896:G:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851901:C:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851902:C:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851903:T:G 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851910:A:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851912:A:C 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851913:T:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851915:T:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851916:C:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851918:T:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851925:C:A 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:25851931:C:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851938:A:C 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851940:A:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851950:T:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851952:C:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851960:G:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851969:T:A 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:25851972:T:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851983:T:A 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25851994:A:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25851997:C:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25852011:T:C 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.983193,.,. recessive HG002 HG002 chr17:25852017:C:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852019:A:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852022:T:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852023:T:G 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25852026:C:G 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr17:25852030:T:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.983333,.,. recessive HG002 HG002 chr17:25852036:A:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852043:T:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25852046:C:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852049:G:A 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25852054:A:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852063:T:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852066:T:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852073:A:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852076:C:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25852079:T:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852081:T:G 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25852085:T:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25852086:C:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25852090:C:A 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25852092:A:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25852095:C:A 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25852098:G:A 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25852099:T:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852103:T:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852109:C:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852112:G:A 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25852114:C:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852116:T:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852125:A:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852129:T:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852133:T:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852141:T:C 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:25852146:T:G 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852148:G:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.991667,.,. recessive HG002 HG002 chr17:25852151:T:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852154:T:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:25852186:G:T 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr17:25852192:T:G 2,.,. -1 -1 -1 -1 -1 -1 135,.,. 1,.,. recessive HG002 HG002 chr17:25852212:T:A 2,.,. -1 -1 -1 -1 -1 -1 135,.,. 1,.,. recessive HG002 HG002 chr17:25852214:C:T 2,.,. -1 -1 -1 -1 -1 -1 135,.,. 1,.,. recessive HG002 HG002 chr17:25852232:C:G 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr17:25852241:A:G 2,.,. -1 -1 -1 -1 -1 -1 135,.,. 1,.,. recessive HG002 HG002 chr17:25852254:G:T 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr17:25852274:T:C 2,.,. -1 -1 -1 -1 -1 -1 131,.,. 1,.,. recessive HG002 HG002 chr17:25852279:G:C 2,.,. -1 -1 -1 -1 -1 -1 131,.,. 1,.,. recessive HG002 HG002 chr17:25852391:T:G 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25852396:G:T 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25852397:G:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25852402:A:T 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 0.992701,.,. recessive HG002 HG002 chr17:25852406:C:G 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25852409:T:C 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 0.992701,.,. recessive HG002 HG002 chr17:25852413:T:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25852418:GC:G 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.985507,.,. recessive HG002 HG002 chr17:25852420:C:A 2,.,. -1 -1 -1 -1 -1 -1 135,.,. 1,.,. recessive HG002 HG002 chr17:25852422:A:T 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25852423:C:T 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 0.992647,.,. recessive HG002 HG002 chr17:25852427:A:T 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25852429:T:G 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25852433:G:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25852436:A:G 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25852441:CT:C 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 0.992701,.,. recessive HG002 HG002 chr17:25852448:T:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25852453:A:C 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25852733:T:G 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr17:25852734:A:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852739:T:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25852743:G:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852750:C:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25852757:T:G 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.992754,.,. recessive HG002 HG002 chr17:25852759:T:A 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25852769:C:A 2,.,. -1 -1 -1 -1 -1 -1 135,.,. 1,.,. recessive HG002 HG002 chr17:25852783:C:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25852785:G:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25852788:C:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852792:A:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852801:A:T 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25852805:A:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852813:C:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852818:G:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25852820:T:G 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25852826:C:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852833:T:G 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25852849:A:G 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.992754,.,. recessive HG002 HG002 chr17:25852864:G:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852873:C:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852884:A:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25852886:T:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852895:G:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852904:G:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852913:G:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852926:T:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852943:TA:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25852947:C:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25852948:C:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852949:G:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852953:A:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852970:T:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25852979:A:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25852982:A:T 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25852993:A:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853004:G:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853007:A:C 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 1,.,. recessive HG002 HG002 chr17:25853009:A:C 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 0.992647,.,. recessive HG002 HG002 chr17:25853018:CA:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.985507,.,. recessive HG002 HG002 chr17:25853022:C:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853028:G:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853030:C:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853033:A:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853034:G:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853037:G:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853038:T:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853041:G:T 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25853047:T:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853054:G:T 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 1,.,. recessive HG002 HG002 chr17:25853057:T:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853060:A:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853065:G:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853074:G:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853077:A:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853084:G:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853087:T:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853090:A:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853092:G:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853096:A:T 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25853097:T:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.985507,.,. recessive HG002 HG002 chr17:25853101:A:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853103:T:A 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25853106:A:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853109:A:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853110:A:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853114:G:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853120:T:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853123:A:G 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25853125:A:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853127:G:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853136:T:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853150:A:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853156:T:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853164:C:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853190:T:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853198:C:T 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25853204:A:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853206:A:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853209:C:T 2,.,. -1 -1 -1 -1 -1 -1 135,.,. 1,.,. recessive HG002 HG002 chr17:25853218:A:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853225:T:C 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25853227:C:G 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25853228:C:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853229:A:G 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853231:A:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853234:G:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853241:T:G 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25853248:T:G 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853250:C:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853253:G:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853254:G:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853255:G:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853262:G:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853264:C:A 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 1,.,. recessive HG002 HG002 chr17:25853265:C:T 2,.,. -1 -1 -1 -1 -1 -1 135,.,. 1,.,. recessive HG002 HG002 chr17:25853267:G:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853268:T:C 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 0.985401,.,. recessive HG002 HG002 chr17:25853277:A:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853281:G:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853283:T:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853290:C:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853292:G:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853298:G:A 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 1,.,. recessive HG002 HG002 chr17:25853304:T:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853314:G:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853319:A:G 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853325:C:T 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 1,.,. recessive HG002 HG002 chr17:25853328:T:G 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853335:A:T 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 1,.,. recessive HG002 HG002 chr17:25853339:C:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853349:A:C 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25853360:G:C 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25853361:G:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853369:T:G 2,.,. -1 -1 -1 -1 -1 -1 135,.,. 1,.,. recessive HG002 HG002 chr17:25853374:C:G 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853380:T:C 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25853382:T:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853383:C:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853387:T:A 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25853396:C:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853398:G:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853400:G:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.985611,.,. recessive HG002 HG002 chr17:25853416:T:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853417:A:G 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.992754,.,. recessive HG002 HG002 chr17:25853421:C:G 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25853424:C:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853432:A:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853435:A:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853438:T:G 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.992754,.,. recessive HG002 HG002 chr17:25853448:C:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.992754,.,. recessive HG002 HG002 chr17:25853451:G:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853453:G:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853454:A:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853463:A:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853468:A:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853469:G:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853473:A:G 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853475:C:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853495:T:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853498:C:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853510:T:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853511:G:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853516:A:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853520:C:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853528:T:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853529:C:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853532:G:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853535:G:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853538:T:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853541:C:G 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853548:T:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853553:C:T 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 1,.,. recessive HG002 HG002 chr17:25853561:T:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.992754,.,. recessive HG002 HG002 chr17:25853566:T:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853571:A:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853573:T:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:25853574:G:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853576:C:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853609:G:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853614:G:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853616:A:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.992754,.,. recessive HG002 HG002 chr17:25853620:C:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:25853624:T:A 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:25853627:T:G 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853633:C:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:25853635:T:G 2,.,. -1 -1 -1 -1 -1 -1 132,.,. 0.992424,.,. recessive HG002 HG002 chr17:25853643:G:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:25853646:G:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:25853653:C:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:25853664:C:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:25853666:T:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:25853681:C:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:25853682:A:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:25853685:C:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:25853703:C:A 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 1,.,. recessive HG002 HG002 chr17:25853704:C:T 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 1,.,. recessive HG002 HG002 chr17:25853709:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:25853715:A:G 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 0.986301,.,. recessive HG002 HG002 chr17:25853722:T:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:25853723:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:25853728:A:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:25853731:T:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:25853733:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:25853742:G:A 2,.,. -1 -1 -1 -1 -1 -1 147,.,. 1,.,. recessive HG002 HG002 chr17:25853749:G:A 2,.,. -1 -1 -1 -1 -1 -1 147,.,. 1,.,. recessive HG002 HG002 chr17:25853761:G:T 2,.,. -1 -1 -1 -1 -1 -1 147,.,. 1,.,. recessive HG002 HG002 chr17:25853772:C:T 2,.,. -1 -1 -1 -1 -1 -1 147,.,. 1,.,. recessive HG002 HG002 chr17:25853775:A:G 2,.,. -1 -1 -1 -1 -1 -1 147,.,. 1,.,. recessive HG002 HG002 chr17:25853779:G:T 2,.,. -1 -1 -1 -1 -1 -1 147,.,. 1,.,. recessive HG002 HG002 chr17:25853782:T:G 2,.,. -1 -1 -1 -1 -1 -1 147,.,. 0.986395,.,. recessive HG002 HG002 chr17:25853793:GA:G 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 0.986301,.,. recessive HG002 HG002 chr17:25854005:A:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854007:A:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854022:A:C 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854023:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854026:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854044:A:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854045:T:C 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.993631,.,. recessive HG002 HG002 chr17:25854050:T:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854056:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854063:G:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854064:T:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854069:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854072:A:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854074:A:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854083:A:G 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.993631,.,. recessive HG002 HG002 chr17:25854090:A:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854113:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854116:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854120:T:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854123:G:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854134:G:GA 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:25854138:A:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854141:G:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854145:C:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854155:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854174:G:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854185:A:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854189:C:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.987342,.,. recessive HG002 HG002 chr17:25854190:A:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.987342,.,. recessive HG002 HG002 chr17:25854195:C:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854199:A:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854203:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854207:G:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.987342,.,. recessive HG002 HG002 chr17:25854208:A:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854209:C:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:25854214:C:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854217:A:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:25854220:G:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854227:C:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854232:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.981132,.,. recessive HG002 HG002 chr17:25854233:G:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854240:C:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854241:T:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.987342,.,. recessive HG002 HG002 chr17:25854245:G:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854247:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854250:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854252:A:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854253:A:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854255:G:C 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:25854257:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.981132,.,. recessive HG002 HG002 chr17:25854264:C:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:25854281:G:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854288:A:G 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:25854293:A:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:25854295:T:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:25854299:G:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.987013,.,. recessive HG002 HG002 chr17:25854303:A:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:25854306:G:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854308:T:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854312:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854314:G:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:25854322:A:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854325:C:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854329:T:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854335:C:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854340:G:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:25854346:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854349:G:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:25854356:T:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:25854360:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854370:C:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854381:C:G 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.987261,.,. recessive HG002 HG002 chr17:25854382:T:G 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.993631,.,. recessive HG002 HG002 chr17:25854390:G:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:25854401:C:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:25854403:A:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854404:T:C 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.987261,.,. recessive HG002 HG002 chr17:25854408:A:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.981132,.,. recessive HG002 HG002 chr17:25854419:C:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854421:A:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854437:C:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854438:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854445:G:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.987013,.,. recessive HG002 HG002 chr17:25854453:T:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854456:T:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.987342,.,. recessive HG002 HG002 chr17:25854459:G:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.993631,.,. recessive HG002 HG002 chr17:25854462:G:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854469:A:C 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.993631,.,. recessive HG002 HG002 chr17:25854472:A:G 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.980892,.,. recessive HG002 HG002 chr17:25854474:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:25854475:T:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.980892,.,. recessive HG002 HG002 chr17:25854484:C:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:25854489:T:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:25854494:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854496:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854513:G:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:25854527:A:C 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854543:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854553:A:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854561:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854567:C:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:25854568:A:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854569:C:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854572:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.981132,.,. recessive HG002 HG002 chr17:25854581:T:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854588:C:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:25854590:G:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854591:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854592:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854594:C:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:25854604:G:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854611:G:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:25854613:A:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:25854616:C:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854618:T:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:25854625:A:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.981132,.,. recessive HG002 HG002 chr17:25854627:G:C 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.987179,.,. recessive HG002 HG002 chr17:25854630:T:G 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.980892,.,. recessive HG002 HG002 chr17:25854631:C:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:25854633:T:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854640:C:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854646:C:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854653:A:C 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.987261,.,. recessive HG002 HG002 chr17:25854655:A:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854665:T:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:25854675:G:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854684:T:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:25854687:T:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854698:T:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854709:A:G 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:25854712:C:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854732:C:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:25854734:A:C 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854737:T:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:25854738:T:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854741:C:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:25854745:T:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.980519,.,. recessive HG002 HG002 chr17:25854751:A:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854758:T:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854761:C:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854764:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854769:A:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854778:T:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.987342,.,. recessive HG002 HG002 chr17:25854781:T:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854788:A:G 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.987261,.,. recessive HG002 HG002 chr17:25854791:C:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854794:T:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854796:T:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854800:T:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.987342,.,. recessive HG002 HG002 chr17:25854801:C:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854805:C:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:25854807:A:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854810:C:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854813:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854814:T:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854818:T:G 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.993631,.,. recessive HG002 HG002 chr17:25854824:C:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:25854827:G:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.987179,.,. recessive HG002 HG002 chr17:25854829:C:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:25854831:T:G 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:25854840:A:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854844:T:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854848:T:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854856:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854861:T:G 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.993631,.,. recessive HG002 HG002 chr17:25854863:G:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:25854866:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:25854869:T:C 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.987342,.,. recessive HG002 HG002 chr17:25854901:G:T 2,.,. -1 -1 -1 -1 -1 -1 180,.,. 1,.,. recessive HG002 HG002 chr17:25854907:T:G 2,.,. -1 -1 -1 -1 -1 -1 182,.,. 1,.,. recessive HG002 HG002 chr17:25854927:T:A 2,.,. -1 -1 -1 -1 -1 -1 182,.,. 0.983516,.,. recessive HG002 HG002 chr17:25854929:C:T 2,.,. -1 -1 -1 -1 -1 -1 182,.,. 0.994505,.,. recessive HG002 HG002 chr17:25854947:C:G 2,.,. -1 -1 -1 -1 -1 -1 182,.,. 1,.,. recessive HG002 HG002 chr17:25854956:A:G 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 0.98895,.,. recessive HG002 HG002 chr17:25854969:A:T 2,.,. -1 -1 -1 -1 -1 -1 180,.,. 1,.,. recessive HG002 HG002 chr17:25854989:T:C 2,.,. -1 -1 -1 -1 -1 -1 177,.,. 1,.,. recessive HG002 HG002 chr17:25854994:G:C 2,.,. -1 -1 -1 -1 -1 -1 179,.,. 0.994413,.,. recessive HG002 HG002 chr17:25855111:G:T 2,.,. -1 -1 -1 -1 -1 -1 184,.,. 1,.,. recessive HG002 HG002 chr17:25855117:A:T 2,.,. -1 -1 -1 -1 -1 -1 185,.,. 0.994595,.,. recessive HG002 HG002 chr17:25855121:C:G 2,.,. -1 -1 -1 -1 -1 -1 178,.,. 0.994382,.,. recessive HG002 HG002 chr17:25855122:A:AC 2,.,. -1 -1 -1 -1 -1 -1 172,.,. 1,.,. recessive HG002 HG002 chr17:25855127:T:C 2,.,. -1 -1 -1 -1 -1 -1 185,.,. 0.994595,.,. recessive HG002 HG002 chr17:25855136:A:T 2,.,. -1 -1 -1 -1 -1 -1 184,.,. 0.994565,.,. recessive HG002 HG002 chr17:25855141:A:T 2,.,. -1 -1 -1 -1 -1 -1 178,.,. 0.994382,.,. recessive HG002 HG002 chr17:25855143:T:G 2,.,. -1 -1 -1 -1 -1 -1 177,.,. 0.99435,.,. recessive HG002 HG002 chr17:25855157:T:C 2,.,. -1 -1 -1 -1 -1 -1 180,.,. 0.994444,.,. recessive HG002 HG002 chr17:25855162:T:C 2,.,. -1 -1 -1 -1 -1 -1 182,.,. 0.994505,.,. recessive HG002 HG002 chr17:25855447:T:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:25855448:A:G 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.994975,.,. recessive HG002 HG002 chr17:25855453:T:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.994975,.,. recessive HG002 HG002 chr17:25855457:G:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:25855458:AC:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.98995,.,. recessive HG002 HG002 chr17:25855461:G:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.994975,.,. recessive HG002 HG002 chr17:25855464:C:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.994975,.,. recessive HG002 HG002 chr17:25855470:A:AG 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.989899,.,. recessive HG002 HG002 chr17:25855472:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:25855477:T:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.994975,.,. recessive HG002 HG002 chr17:25855479:G:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.994975,.,. recessive HG002 HG002 chr17:25855483:C:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:25855485:G:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.994975,.,. recessive HG002 HG002 chr17:25855486:G:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.994975,.,. recessive HG002 HG002 chr17:25855492:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.984848,.,. recessive HG002 HG002 chr17:25855497:C:T 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 0.994872,.,. recessive HG002 HG002 chr17:25855499:G:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.98995,.,. recessive HG002 HG002 chr17:25855502:C:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:25855503:T:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:25855506:A:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:25855515:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:25855519:A:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25855527:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:25855532:G:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25855534:T:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:25855537:C:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.984925,.,. recessive HG002 HG002 chr17:25855540:C:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25855547:T:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855563:A:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.989899,.,. recessive HG002 HG002 chr17:25855578:G:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.994975,.,. recessive HG002 HG002 chr17:25855587:C:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855598:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855600:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:25855609:G:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25855618:G:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:25855625:A:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855627:G:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855640:T:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.994975,.,. recessive HG002 HG002 chr17:25855656:T:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25855661:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:25855662:C:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25855684:T:G 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.984925,.,. recessive HG002 HG002 chr17:25855693:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855696:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855707:A:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25855718:G:A 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25855721:A:C 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 0.994819,.,. recessive HG002 HG002 chr17:25855723:A:C 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 0.984694,.,. recessive HG002 HG002 chr17:25855732:CA:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855736:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855742:G:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855744:C:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855747:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855748:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855751:G:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.989899,.,. recessive HG002 HG002 chr17:25855752:T:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.989848,.,. recessive HG002 HG002 chr17:25855755:G:T 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 0.994872,.,. recessive HG002 HG002 chr17:25855761:T:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855768:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855771:T:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855774:A:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855779:G:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855788:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855791:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855792:C:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25855798:G:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855801:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855804:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855806:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855810:A:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855811:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:25855815:A:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855817:T:A 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25855820:A:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:25855823:A:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855824:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855828:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855834:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855837:A:G 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25855839:A:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.989899,.,. recessive HG002 HG002 chr17:25855841:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855850:T:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855856:T:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.984772,.,. recessive HG002 HG002 chr17:25855864:A:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855870:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855878:C:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855894:A:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855904:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855912:C:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25855918:A:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855920:A:C 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25855923:C:T 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:25855932:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855939:T:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855941:C:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855942:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855943:A:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855945:A:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855955:T:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855962:T:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855964:G:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855967:G:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855968:G:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855969:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855976:G:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855978:C:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855979:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855981:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855982:T:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25855984:G:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25855991:A:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25855997:T:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856004:C:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856006:G:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856012:G:A 2,.,. -1 -1 -1 -1 -1 -1 194,.,. 1,.,. recessive HG002 HG002 chr17:25856018:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856022:A:T 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:25856028:G:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856033:A:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:25856039:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856042:T:G 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:25856049:A:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25856053:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856063:A:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856074:G:C 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25856075:G:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25856083:T:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.989899,.,. recessive HG002 HG002 chr17:25856084:C:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856088:C:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856097:C:T 2,.,. -1 -1 -1 -1 -1 -1 194,.,. 1,.,. recessive HG002 HG002 chr17:25856098:C:G 2,.,. -1 -1 -1 -1 -1 -1 194,.,. 1,.,. recessive HG002 HG002 chr17:25856101:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856110:C:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 0.994898,.,. recessive HG002 HG002 chr17:25856112:G:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856114:G:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856130:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856131:A:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856137:G:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.989848,.,. recessive HG002 HG002 chr17:25856139:C:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:25856140:T:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856143:C:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856146:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856149:A:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25856152:T:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:25856155:T:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856162:C:A 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25856165:G:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.989899,.,. recessive HG002 HG002 chr17:25856167:T:A 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25856170:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.989899,.,. recessive HG002 HG002 chr17:25856171:A:C 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25856172:C:T 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:25856181:C:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856183:A:ACT 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856185:A:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856187:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856207:T:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856210:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856218:T:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856222:T:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856228:A:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856232:C:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.984848,.,. recessive HG002 HG002 chr17:25856241:T:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856242:C:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856245:G:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856248:G:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856251:T:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856254:C:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856261:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856266:C:T 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:25856267:T:G 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25856274:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856275:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856279:T:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856281:C:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25856284:A:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:25856286:T:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:25856287:G:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:25856289:C:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856315:C:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856322:G:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856327:G:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:25856329:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:25856333:C:G 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:25856335:A:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856337:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856340:T:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856346:C:T 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:25856348:T:G 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 1,.,. recessive HG002 HG002 chr17:25856356:G:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856359:G:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856366:C:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856377:C:A 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:25856379:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856382:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856394:C:A 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:25856395:A:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:25856398:C:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25856410:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856416:C:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856417:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856422:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856428:A:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856435:T:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856436:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856441:A:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856444:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856446:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856455:G:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856462:G:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856474:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856485:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856488:A:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856492:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856495:T:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.989848,.,. recessive HG002 HG002 chr17:25856511:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856518:A:C 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25856718:A:C 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 1,.,. recessive HG002 HG002 chr17:25856720:A:T 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 1,.,. recessive HG002 HG002 chr17:25856723:T:C 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 1,.,. recessive HG002 HG002 chr17:25856735:A:C 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 0.995025,.,. recessive HG002 HG002 chr17:25856736:G:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856739:G:C 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 1,.,. recessive HG002 HG002 chr17:25856751:C:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856757:A:C 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 1,.,. recessive HG002 HG002 chr17:25856758:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856763:T:A 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 1,.,. recessive HG002 HG002 chr17:25856769:G:A 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 1,.,. recessive HG002 HG002 chr17:25856776:G:T 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 0.99005,.,. recessive HG002 HG002 chr17:25856777:T:G 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 0.99005,.,. recessive HG002 HG002 chr17:25856782:G:A 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 1,.,. recessive HG002 HG002 chr17:25856785:A:T 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 1,.,. recessive HG002 HG002 chr17:25856787:A:T 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 1,.,. recessive HG002 HG002 chr17:25856796:A:G 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 1,.,. recessive HG002 HG002 chr17:25856803:A:G 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 1,.,. recessive HG002 HG002 chr17:25856808:G:T 2,.,. -1 -1 -1 0.000700771 0 2 201,.,. 1,.,. recessive HG002 HG002 chr17:25856815:T:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:25856826:T:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856829:G:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:25856833:T:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:25856836:G:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856847:G:GA 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 0.994872,.,. recessive HG002 HG002 chr17:25856851:A:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25856854:G:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856858:C:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856868:G:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25856887:G:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856890:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856895:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856898:A:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856902:C:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25856903:A:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856908:C:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856912:A:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856920:G:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25856921:A:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.994975,.,. recessive HG002 HG002 chr17:25856927:C:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856930:A:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25856933:G:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856940:C:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856945:T:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.98995,.,. recessive HG002 HG002 chr17:25856946:G:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.99,.,. recessive HG002 HG002 chr17:25856953:C:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25856954:T:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856958:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25856960:T:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856963:G:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856965:A:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25856966:A:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856968:G:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856970:G:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25856979:G:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25856983:C:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25856994:G:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857001:A:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857006:A:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857008:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25857012:G:C 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25857014:G:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.99,.,. recessive HG002 HG002 chr17:25857016:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857019:G:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:25857021:T:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857025:T:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857027:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857035:A:G 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857038:C:G 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857042:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857053:G:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857059:T:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.994975,.,. recessive HG002 HG002 chr17:25857062:G:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857069:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857073:T:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857083:C:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857094:C:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857095:T:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:25857103:G:T 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:25857114:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857116:A:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857117:T:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:25857118:G:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857121:A:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857132:C:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857134:A:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857150:C:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857151:G:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857157:A:AC 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.984772,.,. recessive HG002 HG002 chr17:25857158:G:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857159:G:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25857160:G:A 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25857166:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857167:G:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:25857169:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:25857172:G:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857173:T:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:25857175:G:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:25857182:A:C 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:25857185:A:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857187:A:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857188:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857197:C:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857199:A:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:25857202:T:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857203:A:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857207:G:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857209:T:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857226:G:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857232:C:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857240:A:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857256:G:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857266:A:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857274:T:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.984925,.,. recessive HG002 HG002 chr17:25857280:C:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857282:C:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857285:T:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857294:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857301:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857303:G:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857304:T:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857305:G:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857307:C:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857317:G:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:25857324:G:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857326:A:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857329:C:G 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857330:C:G 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857331:T:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857338:A:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25857340:A:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857343:T:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:25857344:C:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857346:T:G 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.994975,.,. recessive HG002 HG002 chr17:25857353:C:A 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25857359:C:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857366:A:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857368:A:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25857374:A:G 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857378:T:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857380:C:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:25857388:G:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857397:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25857400:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857411:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857413:A:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857422:A:G 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857425:C:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857445:C:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.985,.,. recessive HG002 HG002 chr17:25857447:A:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857450:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857451:T:G 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857454:C:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25857455:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.989899,.,. recessive HG002 HG002 chr17:25857458:T:G 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 0.989796,.,. recessive HG002 HG002 chr17:25857464:A:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857471:T:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857474:C:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857477:G:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857482:A:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857491:T:G 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857494:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857501:A:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857504:C:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857507:T:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857509:T:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857513:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857514:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857516:T:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857518:C:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857520:A:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857523:C:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857526:G:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857527:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857537:C:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857539:C:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857540:G:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:25857542:C:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857544:T:G 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857553:A:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857557:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857561:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857569:T:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857574:T:G 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857576:G:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857579:T:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857582:T:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857589:G:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857614:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857620:T:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857640:T:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857642:C:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857645:C:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857660:C:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857669:A:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25857699:T:TA 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 0.989796,.,. recessive HG002 HG002 chr17:25857702:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857704:T:G 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25857707:G:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857808:T:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857825:G:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857830:A:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857834:C:G 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857837:T:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:25857841:T:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:25857848:C:A 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:25857850:A:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:25857855:A:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25857857:T:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:25857861:G:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.985,.,. recessive HG002 HG002 chr17:25857864:A:G 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 0.994898,.,. recessive HG002 HG002 chr17:25857869:CT:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.984925,.,. recessive HG002 HG002 chr17:25857871:T:C 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:25857876:T:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.994975,.,. recessive HG002 HG002 chr17:25857881:A:C 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:25858161:T:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858162:A:G 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858167:T:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858171:G:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858178:C:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858184:A:AG 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 0.989691,.,. recessive HG002 HG002 chr17:25858186:T:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 0.989796,.,. recessive HG002 HG002 chr17:25858191:T:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 0.989796,.,. recessive HG002 HG002 chr17:25858193:G:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858197:C:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858199:G:A 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858200:G:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858206:C:T 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858211:C:T 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858213:G:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 0.989796,.,. recessive HG002 HG002 chr17:25858216:C:A 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:25858220:A:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858229:A:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858233:A:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858241:C:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858246:G:T 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858248:T:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858251:C:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858254:C:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858261:T:G 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858277:A:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 0.989796,.,. recessive HG002 HG002 chr17:25858292:G:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858301:C:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858312:A:T 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858314:T:C 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858332:G:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858339:A:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858341:G:A 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858354:T:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858375:C:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858376:C:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858377:G:T 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858398:T:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858407:A:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858410:A:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858421:A:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858432:G:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858435:A:C 2,.,. -1 -1 -1 -1 -1 -1 95,.,. 1,.,. recessive HG002 HG002 chr17:25858446:CA:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858450:C:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858456:G:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858458:C:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858461:A:T 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858462:G:T 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858465:G:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858466:T:G 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858469:G:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858475:T:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858482:G:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858485:T:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858488:A:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858493:G:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858502:G:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858505:A:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858512:G:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858515:T:C 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25858518:A:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858520:G:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858524:A:T 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858525:T:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858531:T:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858534:A:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858538:A:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858542:G:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858548:T:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858551:A:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858553:A:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858555:G:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858557:A:T 2,.,. -1 -1 -1 -1 -1 -1 93,.,. 1,.,. recessive HG002 HG002 chr17:25858564:T:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858570:T:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 0.989796,.,. recessive HG002 HG002 chr17:25858578:A:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858584:T:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858592:C:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858618:T:A 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858626:C:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858632:A:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858634:A:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858637:C:T 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858646:A:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858653:T:C 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25858655:C:G 2,.,. -1 -1 -1 -1 -1 -1 96,.,. 1,.,. recessive HG002 HG002 chr17:25858656:C:T 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858657:A:G 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858659:A:C 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:25858682:G:C 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25858718:C:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25858720:G:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25858927:C:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25858939:T:C 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25858940:G:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25858949:C:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25858957:T:G 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25858958:C:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25858964:G:C 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25858970:C:G 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25858977:T:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25858982:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:25858990:T:C 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25859002:T:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25859003:G:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25859031:C:G 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25859049:C:G 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:25859072:G:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25859075:G:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25859082:C:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25859095:T:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:25859132:C:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25859133:C:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25859138:A:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25859171:G:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25859204:A:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:25859208:G:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25859211:T:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:25859436:A:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:25859498:G:A 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:25859519:A:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:25859584:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25859603:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25859624:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25859662:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25859758:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25859769:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25859775:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25859841:C:T 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:25859867:G:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:25859925:T:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:25859942:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25859948:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25859971:A:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:25859972:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25859983:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25859996:C:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25860018:T:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:25860019:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:25860021:C:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25860031:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25860038:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25860040:A:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25860073:C:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25860290:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25860307:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25860308:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25860328:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25860329:C:G 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:25860334:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25860396:A:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25860538:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25860544:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25860548:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25860779:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25860787:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:25860792:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:25860797:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25860858:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25861049:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25861052:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:25861071:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:25861102:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:25861111:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25861181:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25861202:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25861229:G:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25861260:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:25861474:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:25861487:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25861504:T:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25861505:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25861511:G:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25861517:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25861524:T:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:25861549:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:25861578:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25861596:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25861619:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25861629:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25861680:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25861758:T:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25862150:G:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862161:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25862171:C:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862175:A:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862185:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25862209:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25862226:G:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862271:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25862282:G:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862288:T:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862290:G:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862305:T:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862316:G:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862322:T:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862332:T:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862335:C:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862346:C:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862377:C:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862397:A:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862413:C:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 0.987654,.,. recessive HG002 HG002 chr17:25862414:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25862445:A:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862448:A:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862460:C:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862465:T:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862472:T:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862489:G:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862519:G:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862543:C:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862557:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25862564:C:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862580:G:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862587:G:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862589:A:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862594:T:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862603:A:C 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862616:C:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862622:C:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862633:C:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:25862713:T:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862714:T:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862718:G:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 0.987654,.,. recessive HG002 HG002 chr17:25862737:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25862740:G:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862745:A:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862767:C:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862770:T:A 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862807:T:G 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:25862851:G:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25863087:G:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 0.988636,.,. recessive HG002 HG002 chr17:25863093:A:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25863097:C:G 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:25863100:T:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 0.988506,.,. recessive HG002 HG002 chr17:25863496:A:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25863514:C:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25863517:C:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25863575:A:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:25863694:C:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25863729:T:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 0.988506,.,. recessive HG002 HG002 chr17:25863732:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 0.988506,.,. recessive HG002 HG002 chr17:25863738:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25863745:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25863765:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25863855:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25863881:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25863897:A:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25863900:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25863918:C:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25863937:C:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25863955:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25863958:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25863968:A:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25863981:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:25864005:G:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25864029:C:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25864051:G:C 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:25864052:G:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:25864074:C:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:25864075:C:G 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:25864147:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25864344:C:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25864395:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25864400:A:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25864414:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25864422:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:25864452:G:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:25864473:T:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 0.988506,.,. recessive HG002 HG002 chr17:25864865:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25864876:A:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:25864886:C:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25864890:A:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25864900:C:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25864924:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25864941:G:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25864986:T:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25864997:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865003:T:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865005:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865020:T:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865031:G:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865037:T:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865047:T:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865061:C:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865092:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865094:A:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865112:A:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865128:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 0.988235,.,. recessive HG002 HG002 chr17:25865129:G:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25865160:A:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865163:A:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865175:C:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865180:T:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25865187:T:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865204:G:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865234:G:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865258:C:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865272:T:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865279:C:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:25865295:G:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 0.988095,.,. recessive HG002 HG002 chr17:25865302:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865304:A:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865307:C:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865309:T:G 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25865318:A:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865331:C:A 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:25865337:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865366:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865375:T:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865428:T:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25865429:T:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865433:G:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 0.988095,.,. recessive HG002 HG002 chr17:25865452:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865455:G:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865460:A:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865482:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865485:T:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865522:T:G 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25865554:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865592:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865620:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865638:C:G 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25865802:G:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:25865812:C:G 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:25865815:T:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:25865829:C:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 0.988372,.,. recessive HG002 HG002 chr17:25866211:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866229:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866250:A:G 2,.,. -1 -1 -1 0.00175193 2 5 54,.,. 1,.,. recessive HG002 HG002 chr17:25866388:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866439:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866440:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866444:T:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:25866447:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:25866453:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866460:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866503:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866570:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866596:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866612:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866615:C:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:25866631:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866633:C:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866659:G:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:25866673:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866683:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866720:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866755:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866767:G:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:25866768:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:25866790:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866794:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866807:G:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866914:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866928:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866937:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866943:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866949:C:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:25866956:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866961:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866969:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25866982:G:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25867010:C:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25867051:G:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25867054:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25867061:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25867112:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25867117:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25867150:G:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25867169:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25867441:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:25867462:G:A 2,.,. -1 -1 -1 0.00140154 1 4 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:25867562:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:25867582:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:25867603:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:25867658:G:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:25867696:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25867703:T:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25867714:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25867737:T:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25867778:C:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25867829:A:G 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:25867845:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25867846:G:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25867892:C:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25867897:T:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25867951:G:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25867962:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25867975:C:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25867989:T:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25867996:C:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25868019:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25868026:T:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25868035:A:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25868048:C:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:25868054:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25868146:T:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25868150:G:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:25868169:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25868172:G:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25868177:A:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25868199:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:25868519:G:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:25868529:C:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:25868532:T:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:25868928:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25868941:G:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:25868946:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25868956:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:25869096:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869143:A:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:25869157:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869158:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869165:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869171:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869178:G:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:25869198:G:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:25869221:T:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869238:G:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:25869288:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869314:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869333:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25869349:T:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25869351:C:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25869370:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869377:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869389:C:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:25869391:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869394:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869485:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869498:C:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869504:T:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:25869507:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869508:C:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869511:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869524:G:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25869628:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869642:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869650:T:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869651:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869654:G:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25869657:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869663:C:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869670:T:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869675:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869683:T:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869724:C:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869750:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869765:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869768:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869775:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869831:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869864:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869883:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25869927:A:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25870083:T:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25870317:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25870377:G:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:25870410:A:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:25870417:T:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:25870434:T:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870436:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870451:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870492:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870543:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870559:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870560:G:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870591:A:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:25870606:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870611:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870665:G:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870673:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870676:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870689:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870691:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25870703:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870710:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870733:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870735:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870738:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25870749:A:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870762:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870768:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870863:C:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870864:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25870883:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870886:G:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870891:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25870910:A:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25870937:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:25871179:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25871234:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:25871643:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:25871661:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:25871671:T:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25871711:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:25871871:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25871885:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25871892:G:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:25871912:G:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:25872002:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872028:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872047:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:25872063:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872091:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872102:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872105:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872106:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872199:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872212:C:G 2,.,. -1 -1 -1 0.000700771 0 2 39,.,. 1,.,. recessive HG002 HG002 chr17:25872221:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872222:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872225:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872238:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872302:G:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:25872345:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872359:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:25872367:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872368:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872374:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872380:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872387:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872400:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872441:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872467:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872482:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872485:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872492:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872581:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872600:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872644:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:25872972:C:G 2,.,. -1 -1 -1 0.00315347 4 9 39,.,. 1,.,. recessive HG002 HG002 chr17:25881417:G:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26090367:C:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26091899:G:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:26095598:T:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:26108781:G:T 2,.,. -1 -1 -1 0.00140154 2 4 15,.,. 1,.,. recessive HG002 HG002 chr17:26109273:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26110320:T:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:26110336:T:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:26110353:A:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:26110358:C:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:26110369:T:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:26110377:C:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:26110379:A:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:26129887:G:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:26146310:C:T 2,.,. -1 -1 -1 0.00280308 4 8 6,.,. 1,.,. recessive HG002 HG002 chr17:26146329:C:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:26147996:G:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26147997:G:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26148091:A:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26148784:C:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26148827:C:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26148931:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26148988:C:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26148989:C:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26149060:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26149067:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26149519:G:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26149897:G:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:26150047:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26150080:T:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26150117:T:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26150181:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26150193:T:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26150397:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:26150403:A:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:26150407:C:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:26150410:T:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:26150806:A:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:26150827:C:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:26151192:T:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151208:A:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151211:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151279:A:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:26151316:G:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151402:G:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151523:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151531:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26151532:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151538:G:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:26151544:C:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26151551:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151556:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151577:G:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151581:A:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151604:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151605:C:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151612:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26151623:C:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151646:G:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151649:G:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151707:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26151712:A:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26151726:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26151778:A:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26152227:C:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26152404:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152440:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152441:G:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152456:T:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152459:T:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152462:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:26152472:A:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152475:A:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152487:C:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152497:G:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152499:T:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152570:C:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152607:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152614:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152616:A:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:26152619:C:G 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:26152741:T:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152745:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:26152748:T:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:26152764:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152767:G:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152772:A:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152794:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152797:T:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152799:T:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:26152834:T:G 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:26152866:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26152904:G:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26153114:G:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26153120:A:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26153124:C:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26153127:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26153523:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26153602:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26153613:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26153649:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26153751:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26153752:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26153756:T:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:26153759:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.981132,.,. recessive HG002 HG002 chr17:26153765:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26153792:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26153882:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26153908:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26153924:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26153927:C:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:26153943:T:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:26153995:A:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:26154008:C:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:26154032:G:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:26154078:G:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26154079:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26154246:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:26154247:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:26154253:G:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:26154259:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:26154266:T:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:26154364:G:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.981132,.,. recessive HG002 HG002 chr17:26154371:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26154414:T:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26154422:C:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:26154427:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26154439:T:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:26154479:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26154497:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:26154521:G:A 2,.,. -1 -1 -1 0.00210231 3 6 55,.,. 1,.,. recessive HG002 HG002 chr17:26154892:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:26154913:C:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:26154917:A:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:26155013:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155047:T:A 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:26155064:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155088:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155119:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26155155:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155156:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155187:A:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26155190:A:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155202:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:26155207:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155214:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155231:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155285:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155299:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155306:C:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:26155322:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155329:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155331:A:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155358:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155364:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155460:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26155479:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155482:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155487:A:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155619:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155625:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155829:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26155835:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155839:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26155842:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26156238:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26156256:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26156415:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26156639:A:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26156856:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26156959:T:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26156960:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26156963:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:26156966:G:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26156972:C:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26156979:T:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26156992:T:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26157005:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26157077:G:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:26157135:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26157605:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26157626:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26157726:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26157761:T:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26157772:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26157870:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26157945:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26157999:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26158043:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26158170:T:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26158174:G:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:26158196:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26158201:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26158339:T:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26158543:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26158553:C:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26158556:T:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26158952:A:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:26158970:C:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:26158973:C:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:26159337:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26159570:G:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26159673:T:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26159674:C:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26159680:G:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26159686:C:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:26159706:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26159719:G:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26159747:C:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26159791:G:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26160319:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:26160340:C:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:26160440:T:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26160491:T:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26160583:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26160641:T:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26160658:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26160699:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26160712:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26160909:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26160914:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26161325:A:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26161335:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26161667:A:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:26161911:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26161918:G:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:26162392:T:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26162393:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26162399:G:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26162405:C:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26162425:T:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26162438:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26162510:G:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:26162772:C:T 2,.,. -1 -1 -1 0.0024527 3 7 36,.,. 1,.,. recessive HG002 HG002 chr17:26163059:C:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26163159:T:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26163208:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26163234:C:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26163301:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26163302:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26163360:T:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26163377:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26163418:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26163431:C:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26163628:G:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:26163633:A:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26164384:A:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:26164877:G:T 2,.,. -1 -1 -1 -1 -1 -1 188,.,. 1,.,. recessive HG002 HG002 chr17:26164883:T:C 2,.,. -1 -1 -1 -1 -1 -1 204,.,. 1,.,. recessive HG002 HG002 chr17:26164893:G:C 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 1,.,. recessive HG002 HG002 chr17:26164934:A:T 2,.,. -1 -1 -1 -1 -1 -1 206,.,. 1,.,. recessive HG002 HG002 chr17:26164939:G:C 2,.,. -1 -1 -1 -1 -1 -1 203,.,. 1,.,. recessive HG002 HG002 chr17:26164948:A:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26164953:C:G 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 1,.,. recessive HG002 HG002 chr17:26164962:C:T 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 1,.,. recessive HG002 HG002 chr17:26164963:C:G 2,.,. -1 -1 -1 -1 -1 -1 206,.,. 1,.,. recessive HG002 HG002 chr17:26164975:C:T 2,.,. -1 -1 -1 -1 -1 -1 210,.,. 1,.,. recessive HG002 HG002 chr17:26165008:T:C 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:26165032:G:A 2,.,. -1 -1 -1 -1 -1 -1 204,.,. 1,.,. recessive HG002 HG002 chr17:26165033:A:T 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:26165048:G:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:26165283:C:T 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:26165288:A:T 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 1,.,. recessive HG002 HG002 chr17:26165293:T:A 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 0.981043,.,. recessive HG002 HG002 chr17:26165302:G:T 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:26165310:T:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:26165350:C:T 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:26165351:C:T 2,.,. -1 -1 -1 -1 -1 -1 210,.,. 1,.,. recessive HG002 HG002 chr17:26165358:G:T 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.995283,.,. recessive HG002 HG002 chr17:26165361:T:G 2,.,. -1 -1 -1 -1 -1 -1 210,.,. 1,.,. recessive HG002 HG002 chr17:26165441:C:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:26165453:C:T 2,.,. -1 -1 -1 -1 -1 -1 203,.,. 0.980296,.,. recessive HG002 HG002 chr17:26165466:T:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:26165493:G:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:26165506:C:A 2,.,. -1 -1 -1 0.00105116 1 3 211,.,. 0.995261,.,. recessive HG002 HG002 chr17:26165507:T:C 2,.,. -1 -1 -1 -1 -1 -1 204,.,. 0.980392,.,. recessive HG002 HG002 chr17:26165515:C:G 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 0.980861,.,. recessive HG002 HG002 chr17:26165517:A:G 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 0.981043,.,. recessive HG002 HG002 chr17:26165520:C:T 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:26165523:T:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:26165530:C:T 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.981132,.,. recessive HG002 HG002 chr17:26165534:C:G 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 0.980099,.,. recessive HG002 HG002 chr17:26165539:C:A 2,.,. -1 -1 -1 -1 -1 -1 210,.,. 0.980952,.,. recessive HG002 HG002 chr17:26165552:G:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.99,.,. recessive HG002 HG002 chr17:26165744:C:A 2,.,. -1 -1 -1 -1 -1 -1 194,.,. 1,.,. recessive HG002 HG002 chr17:26165753:G:T 2,.,. -1 -1 -1 -1 -1 -1 204,.,. 1,.,. recessive HG002 HG002 chr17:26165774:C:A 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 1,.,. recessive HG002 HG002 chr17:26165796:A:T 2,.,. -1 -1 -1 -1 -1 -1 202,.,. 1,.,. recessive HG002 HG002 chr17:26165824:G:T 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:26165829:G:A 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 1,.,. recessive HG002 HG002 chr17:26165853:G:C 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 0.980676,.,. recessive HG002 HG002 chr17:26165863:A:G 2,.,. -1 -1 -1 -1 -1 -1 202,.,. 1,.,. recessive HG002 HG002 chr17:26165908:T:A 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 1,.,. recessive HG002 HG002 chr17:26165925:T:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:26165939:T:C 2,.,. -1 -1 -1 -1 -1 -1 204,.,. 1,.,. recessive HG002 HG002 chr17:26165949:C:A 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:26165961:T:C 2,.,. -1 -1 -1 -1 -1 -1 201,.,. 0.995025,.,. recessive HG002 HG002 chr17:26165982:A:T 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:26165998:C:G 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 1,.,. recessive HG002 HG002 chr17:26166016:C:T 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 1,.,. recessive HG002 HG002 chr17:26166017:G:A 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 1,.,. recessive HG002 HG002 chr17:26166024:G:C 2,.,. -1 -1 -1 -1 -1 -1 205,.,. 1,.,. recessive HG002 HG002 chr17:26166025:G:C 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 1,.,. recessive HG002 HG002 chr17:26166026:G:T 2,.,. -1 -1 -1 -1 -1 -1 206,.,. 1,.,. recessive HG002 HG002 chr17:26166032:T:A 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 1,.,. recessive HG002 HG002 chr17:26166035:T:A 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:26166038:G:T 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:26166039:T:C 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:26166041:G:T 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 1,.,. recessive HG002 HG002 chr17:26166048:A:C 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 0.995192,.,. recessive HG002 HG002 chr17:26166073:G:A 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:26166075:T:C 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:26166092:G:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:26166106:A:T 2,.,. -1 -1 -1 -1 -1 -1 205,.,. 1,.,. recessive HG002 HG002 chr17:26166107:C:T 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:26166143:G:T 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 0.985646,.,. recessive HG002 HG002 chr17:26166146:C:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:26166160:T:A 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:26166167:C:T 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:26166171:G:A 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 0.990431,.,. recessive HG002 HG002 chr17:26166173:C:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:26166183:G:T 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 1,.,. recessive HG002 HG002 chr17:26166190:G:T 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 1,.,. recessive HG002 HG002 chr17:26166204:A:G 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:26166225:C:A 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:26166229:T:C 2,.,. -1 -1 -1 -1 -1 -1 202,.,. 0.985148,.,. recessive HG002 HG002 chr17:26166254:G:T 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 1,.,. recessive HG002 HG002 chr17:26166263:T:C 2,.,. -1 -1 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HG002 HG002 chr17:26166411:T:A 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:26166608:C:T 2,.,. -1 -1 -1 -1 -1 -1 207,.,. 0.985507,.,. recessive HG002 HG002 chr17:26166616:C:T 2,.,. -1 -1 -1 -1 -1 -1 208,.,. 1,.,. recessive HG002 HG002 chr17:26166626:C:A 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.984925,.,. recessive HG002 HG002 chr17:26166633:T:A 2,.,. -1 -1 -1 -1 -1 -1 205,.,. 0.985366,.,. recessive HG002 HG002 chr17:26166636:G:T 2,.,. -1 -1 -1 -1 -1 -1 204,.,. 0.995098,.,. recessive HG002 HG002 chr17:26166641:C:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.98,.,. recessive HG002 HG002 chr17:26166683:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.984848,.,. recessive HG002 HG002 chr17:26166691:G:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.99495,.,. recessive HG002 HG002 chr17:26166696:C:A 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:26166697:C:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26166701:C:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:26166704:T:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26166719:C:G 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.984293,.,. recessive HG002 HG002 chr17:26166735:A:T 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 0.984375,.,. recessive HG002 HG002 chr17:26166740:C:A 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:26166748:A:T 2,.,. -1 -1 -1 -1 -1 -1 190,.,. 0.994737,.,. recessive HG002 HG002 chr17:26166771:C:G 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 0.984375,.,. recessive HG002 HG002 chr17:26166778:C:T 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 0.984375,.,. recessive HG002 HG002 chr17:26166785:T:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.984848,.,. recessive HG002 HG002 chr17:26166803:T:A 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.984848,.,. recessive HG002 HG002 chr17:26166825:T:G 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 0.984456,.,. recessive HG002 HG002 chr17:26166829:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.984848,.,. recessive HG002 HG002 chr17:26166844:C:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:26166853:A:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 0.984848,.,. recessive HG002 HG002 chr17:26166872:T:A 2,.,. -1 -1 -1 -1 -1 -1 190,.,. 0.984211,.,. recessive HG002 HG002 chr17:26167042:A:G 2,.,. -1 -1 -1 0.00210231 2 6 190,.,. 1,.,. recessive HG002 HG002 chr17:26167072:A:T 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.989529,.,. recessive HG002 HG002 chr17:26167100:A:T 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26167113:G:T 2,.,. -1 -1 -1 -1 -1 -1 188,.,. 1,.,. recessive HG002 HG002 chr17:26167118:C:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26167121:C:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26167124:A:C 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 0.984694,.,. recessive HG002 HG002 chr17:26167128:T:C 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26167154:G:T 2,.,. -1 -1 -1 -1 -1 -1 189,.,. 1,.,. recessive HG002 HG002 chr17:26167158:G:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.989848,.,. recessive HG002 HG002 chr17:26167168:C:G 2,.,. -1 -1 -1 -1 -1 -1 188,.,. 1,.,. recessive HG002 HG002 chr17:26167176:A:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.989848,.,. recessive HG002 HG002 chr17:26167179:A:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:26167208:G:A 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 1,.,. recessive HG002 HG002 chr17:26167300:G:C 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:26167326:C:T 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:26167337:G:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 0.994898,.,. recessive HG002 HG002 chr17:26167343:T:A 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:26167350:G:T 2,.,. -1 -1 -1 -1 -1 -1 194,.,. 1,.,. recessive HG002 HG002 chr17:26167370:G:T 2,.,. -1 -1 -1 -1 -1 -1 194,.,. 1,.,. recessive HG002 HG002 chr17:26167380:G:T 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:26167390:C:A 2,.,. -1 -1 -1 -1 -1 -1 187,.,. 0.989305,.,. recessive HG002 HG002 chr17:26167410:G:A 2,.,. -1 -1 -1 -1 -1 -1 194,.,. 1,.,. recessive HG002 HG002 chr17:26167432:T:A 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:26167443:T:G 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26167486:T:C 2,.,. -1 -1 -1 -1 -1 -1 188,.,. 1,.,. recessive HG002 HG002 chr17:26167493:TC:T 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.984293,.,. recessive HG002 HG002 chr17:26167505:C:G 2,.,. -1 -1 -1 -1 -1 -1 185,.,. 1,.,. recessive HG002 HG002 chr17:26167523:C:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26167541:C:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.989848,.,. recessive HG002 HG002 chr17:26167549:G:C 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:26167550:G:C 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:26167551:G:A 2,.,. -1 -1 -1 -1 -1 -1 189,.,. 1,.,. recessive HG002 HG002 chr17:26167552:T:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26167554:T:C 2,.,. -1 -1 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HG002 HG002 chr17:26167683:T:A 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 1,.,. recessive HG002 HG002 chr17:26167692:C:T 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:26167760:G:T 2,.,. -1 -1 -1 -1 -1 -1 188,.,. 1,.,. recessive HG002 HG002 chr17:26167990:T:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26167998:C:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26168003:A:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26168008:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.989848,.,. recessive HG002 HG002 chr17:26168017:G:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26168025:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26168065:C:T 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 0.989796,.,. recessive HG002 HG002 chr17:26168066:C:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26168073:G:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26168076:T:G 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 1,.,. recessive HG002 HG002 chr17:26168153:A:C 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.989848,.,. recessive HG002 HG002 chr17:26168156:C:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.984772,.,. recessive HG002 HG002 chr17:26168168:C:T 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.989529,.,. recessive HG002 HG002 chr17:26168181:T:A 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 0.989796,.,. recessive HG002 HG002 chr17:26168186:G:C 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.984293,.,. recessive HG002 HG002 chr17:26168208:G:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.989848,.,. recessive HG002 HG002 chr17:26168218:G:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.994924,.,. recessive HG002 HG002 chr17:26168221:C:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26168230:C:G 2,.,. -1 -1 -1 -1 -1 -1 194,.,. 0.989691,.,. recessive HG002 HG002 chr17:26168232:A:G 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 0.984694,.,. recessive HG002 HG002 chr17:26168235:C:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.989848,.,. recessive HG002 HG002 chr17:26168238:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.989848,.,. recessive HG002 HG002 chr17:26168244:T:G 2,.,. -1 -1 -1 -1 -1 -1 178,.,. 0.988764,.,. recessive HG002 HG002 chr17:26168245:C:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.989848,.,. recessive HG002 HG002 chr17:26168247:T:G 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 0.989796,.,. recessive HG002 HG002 chr17:26168254:C:A 2,.,. -1 -1 -1 -1 -1 -1 196,.,. 0.989796,.,. recessive HG002 HG002 chr17:26168258:T:A 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 0.989848,.,. recessive HG002 HG002 chr17:26168260:C:T 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26168267:G:C 2,.,. -1 -1 -1 -1 -1 -1 189,.,. 0.989418,.,. recessive HG002 HG002 chr17:26168468:G:T 2,.,. -1 -1 -1 -1 -1 -1 190,.,. 1,.,. recessive HG002 HG002 chr17:26168472:T:G 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 0.984375,.,. recessive HG002 HG002 chr17:26168489:C:A 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:26168511:A:T 2,.,. -1 -1 -1 -1 -1 -1 190,.,. 1,.,. recessive HG002 HG002 chr17:26168512:C:T 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:26168544:G:A 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 0.994819,.,. recessive HG002 HG002 chr17:26168552:G:C 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168560:G:T 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.989529,.,. recessive HG002 HG002 chr17:26168568:G:C 2,.,. -1 -1 -1 -1 -1 -1 189,.,. 0.989418,.,. recessive HG002 HG002 chr17:26168582:A:T 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.989529,.,. recessive HG002 HG002 chr17:26168587:A:G 2,.,. -1 -1 -1 -1 -1 -1 185,.,. 0.989189,.,. recessive HG002 HG002 chr17:26168589:T:A 2,.,. -1 -1 -1 -1 -1 -1 185,.,. 0.989189,.,. recessive HG002 HG002 chr17:26168600:G:A 2,.,. -1 -1 -1 -1 -1 -1 189,.,. 0.989418,.,. recessive HG002 HG002 chr17:26168606:T:C 2,.,. -1 -1 -1 -1 -1 -1 190,.,. 0.989474,.,. recessive HG002 HG002 chr17:26168623:T:A 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:26168640:T:C 2,.,. -1 -1 -1 -1 -1 -1 186,.,. 1,.,. recessive HG002 HG002 chr17:26168643:G:C 2,.,. -1 -1 -1 -1 -1 -1 188,.,. 0.989362,.,. recessive HG002 HG002 chr17:26168654:T:C 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 1,.,. recessive HG002 HG002 chr17:26168664:C:A 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168676:T:C 2,.,. -1 -1 -1 -1 -1 -1 189,.,. 0.994709,.,. recessive HG002 HG002 chr17:26168687:A:T 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 0.989637,.,. recessive HG002 HG002 chr17:26168695:C:G 2,.,. -1 -1 -1 -1 -1 -1 186,.,. 1,.,. recessive HG002 HG002 chr17:26168697:A:T 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 1,.,. recessive HG002 HG002 chr17:26168713:C:G 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168731:C:T 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168732:G:A 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168739:G:C 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168740:G:C 2,.,. -1 -1 -1 -1 -1 -1 189,.,. 1,.,. recessive HG002 HG002 chr17:26168741:G:T 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 1,.,. recessive HG002 HG002 chr17:26168747:T:A 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168750:T:A 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168753:G:T 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168754:T:C 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168756:G:T 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:26168763:A:C 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:26168766:A:G 2,.,. -1 -1 -1 -1 -1 -1 190,.,. 0.994737,.,. recessive HG002 HG002 chr17:26168769:T:A 2,.,. -1 -1 -1 -1 -1 -1 190,.,. 0.989474,.,. recessive HG002 HG002 chr17:26168778:C:A 2,.,. -1 -1 -1 -1 -1 -1 185,.,. 0.994595,.,. recessive HG002 HG002 chr17:26168788:G:A 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168790:T:C 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168807:G:C 2,.,. -1 -1 -1 -1 -1 -1 183,.,. 1,.,. recessive HG002 HG002 chr17:26168813:C:T 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 0.989637,.,. recessive HG002 HG002 chr17:26168821:A:T 2,.,. -1 -1 -1 -1 -1 -1 187,.,. 1,.,. recessive HG002 HG002 chr17:26168822:C:T 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168858:G:T 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 0.989637,.,. recessive HG002 HG002 chr17:26168861:C:T 2,.,. -1 -1 -1 -1 -1 -1 188,.,. 1,.,. recessive HG002 HG002 chr17:26168866:T:C 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.989529,.,. recessive HG002 HG002 chr17:26168875:T:A 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168882:C:T 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:26168886:G:A 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168888:C:A 2,.,. -1 -1 -1 -1 -1 -1 190,.,. 1,.,. recessive HG002 HG002 chr17:26168898:G:T 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168905:G:T 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:26168919:A:G 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 1,.,. recessive HG002 HG002 chr17:26168940:C:A 2,.,. -1 -1 -1 -1 -1 -1 189,.,. 1,.,. recessive HG002 HG002 chr17:26168944:T:C 2,.,. -1 -1 -1 -1 -1 -1 189,.,. 0.989418,.,. recessive HG002 HG002 chr17:26168969:G:T 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26168978:T:C 2,.,. -1 -1 -1 -1 -1 -1 189,.,. 1,.,. recessive HG002 HG002 chr17:26169003:A:C 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 1,.,. recessive HG002 HG002 chr17:26169006:C:A 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:26169035:T:G 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:26169055:C:T 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26169058:G:A 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 1,.,. recessive HG002 HG002 chr17:26169063:A:G 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:26169078:T:C 2,.,. -1 -1 -1 -1 -1 -1 189,.,. 1,.,. recessive HG002 HG002 chr17:26169081:C:T 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.989529,.,. recessive HG002 HG002 chr17:26169082:A:T 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.989529,.,. recessive HG002 HG002 chr17:26169085:C:T 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:26169088:T:A 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:26169090:T:G 2,.,. -1 -1 -1 -1 -1 -1 190,.,. 1,.,. recessive HG002 HG002 chr17:26169094:T:A 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.989529,.,. recessive HG002 HG002 chr17:26169101:A:T 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 0.984456,.,. recessive HG002 HG002 chr17:26169104:C:A 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 0.989583,.,. recessive HG002 HG002 chr17:26169107:G:A 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 0.989583,.,. recessive HG002 HG002 chr17:26169112:T:A 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.989529,.,. recessive HG002 HG002 chr17:26169118:C:T 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 0.984456,.,. recessive HG002 HG002 chr17:26169121:G:A 2,.,. -1 -1 -1 -1 -1 -1 187,.,. 0.983957,.,. recessive HG002 HG002 chr17:26169123:C:A 2,.,. -1 -1 -1 -1 -1 -1 192,.,. 1,.,. recessive HG002 HG002 chr17:26169125:T:A 2,.,. -1 -1 -1 -1 -1 -1 182,.,. 1,.,. recessive HG002 HG002 chr17:26169322:C:T 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.989529,.,. recessive HG002 HG002 chr17:26169330:C:T 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26169340:C:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.987342,.,. recessive HG002 HG002 chr17:26169347:T:A 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.9875,.,. recessive HG002 HG002 chr17:26169350:G:T 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.9875,.,. recessive HG002 HG002 chr17:26169355:C:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.993631,.,. recessive HG002 HG002 chr17:26169821:A:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:26170038:C:G 2,.,. -1 -1 -1 0.0024527 3 7 14,.,. 1,.,. recessive HG002 HG002 chr17:26170059:T:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26170108:G:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26170113:T:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26170807:T:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26170900:C:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26190252:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190269:A:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190332:C:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190333:T:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190344:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190397:C:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190401:A:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190409:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190415:C:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190420:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190439:T:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190440:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190459:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190464:C:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190465:C:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190501:A:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190593:T:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190609:C:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190612:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190629:T:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190636:A:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190672:C:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190675:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190679:T:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190696:T:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190711:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26190960:G:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26190969:C:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26190972:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26190981:GC:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26190983:C:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26190985:A:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26190986:C:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26191078:T:C 2,.,. -1 -1 -1 0.00210231 1 6 28,.,. 1,.,. recessive HG002 HG002 chr17:26191241:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191296:T:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26191321:T:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26191326:T:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191328:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191363:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191367:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191375:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191395:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191421:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191446:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191488:T:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191510:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191520:TA:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191533:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191591:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191593:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191596:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191615:G:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26191618:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191626:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191638:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191645:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191653:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191681:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191684:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191686:A:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191688:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191751:T:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191759:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191765:A:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191789:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191790:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191809:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191811:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191814:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191815:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191851:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191853:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191942:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191945:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191962:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26191978:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26191979:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26192003:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192058:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192076:A:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192088:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192089:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192095:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192101:C:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192108:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192121:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192169:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192182:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192184:T:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192195:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192203:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192206:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192226:T:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192242:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192245:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192264:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192269:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192283:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192288:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192361:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192583:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192586:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192605:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192610:T:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192616:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192624:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192629:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192755:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192767:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192768:A:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192774:C:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192780:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192787:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192792:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192793:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192800:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192812:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192848:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192863:A:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26192874:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192882:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192895:C:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192961:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26192964:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26192981:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193007:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193044:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193045:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193056:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193113:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193121:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193127:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193151:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193152:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193171:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193173:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193176:C:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193177:C:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193206:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193213:A:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193302:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193305:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193321:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193324:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193329:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193335:C:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193338:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193341:T:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193348:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26193356:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. 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29,.,. 1,.,. recessive HG002 HG002 chr17:26193671:G:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26193672:G:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26193676:C:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26193681:C:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26193684:T:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26193693:GC:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26193695:C:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26193697:A:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26193698:C:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26193702:A:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26193720:C:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26194081:A:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26194099:C:T 2,.,. -1 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recessive HG002 HG002 chr17:26194802:T:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26194803:C:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26194809:G:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26194815:C:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26194827:C:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26194848:G:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26194876:C:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26194917:G:A 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:26194920:G:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26194978:C:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26194983:A:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:26195016:G:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26195035:G:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26195053:G:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26195240:C:T 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:26195469:C:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195473:A:C 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26195491:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:26195507:G:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195519:G:T 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26195524:G:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195562:A:T 2,.,. -1 -1 -1 -1 -1 -1 68,.,. 1,.,. recessive HG002 HG002 chr17:26195569:T:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26195580:G:T 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26195586:T:C 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26195603:T:A 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26195620:T:C 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195630:T:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195644:C:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195652:C:G 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26195675:C:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195677:A:T 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr17:26195695:A:G 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195711:C:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195712:G:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195743:A:C 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26195746:A:G 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 0.990291,.,. recessive HG002 HG002 chr17:26195758:C:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195763:T:A 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26195768:G:A 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26195770:T:C 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195787:G:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195817:G:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195828:C:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195841:C:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195855:T:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195862:C:T 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26195878:G:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 0.980769,.,. recessive HG002 HG002 chr17:26195885:G:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195887:A:G 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195890:C:G 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr17:26195892:T:G 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195901:A:C 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr17:26195914:C:A 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26195920:C:T 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26195949:G:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26195958:T:A 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26196012:T:G 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26196015:C:G 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26196016:G:T 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 0.990291,.,. recessive HG002 HG002 chr17:26196035:C:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26196038:G:A 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26196043:A:G 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26196065:C:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26196088:T:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26196118:T:A 2,.,. -1 -1 -1 -1 -1 -1 101,.,. 1,.,. recessive HG002 HG002 chr17:26196137:G:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26196149:G:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26196175:G:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:26196181:T:G 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:26196203:C:T 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:26196221:C:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26196385:G:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:26196391:A:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:26196395:C:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26196412:C:T 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:26196454:A:C 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:26196464:G:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26196795:A:T 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:26196813:C:T 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:26196816:C:T 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 1,.,. recessive HG002 HG002 chr17:26196972:A:T 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 1,.,. recessive HG002 HG002 chr17:26196983:A:T 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 1,.,. recessive HG002 HG002 chr17:26197023:A:T 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 1,.,. recessive HG002 HG002 chr17:26197024:G:T 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:26197028:T:G 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr17:26197031:G:T 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr17:26197037:T:A 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:26197064:G:T 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:26197087:T:C 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:26197126:T:A 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:26197154:C:A 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:26197180:T:A 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 1,.,. recessive HG002 HG002 chr17:26197196:A:C 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:26197199:C:T 2,.,. -1 -1 -1 -1 -1 -1 114,.,. 1,.,. recessive HG002 HG002 chr17:26197215:T:C 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 0.991525,.,. recessive HG002 HG002 chr17:26197217:C:G 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:26197245:G:T 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:26197257:G:T 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:26197267:A:C 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 1,.,. recessive HG002 HG002 chr17:26197280:C:A 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:26197304:G:C 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 1,.,. recessive HG002 HG002 chr17:26197325:A:T 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 0.991525,.,. recessive HG002 HG002 chr17:26197339:A:C 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 0.991304,.,. recessive HG002 HG002 chr17:26197345:A:T 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:26197350:G:C 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr17:26197351:G:T 2,.,. -1 -1 -1 -1 -1 -1 114,.,. 1,.,. recessive HG002 HG002 chr17:26197373:C:T 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 1,.,. recessive HG002 HG002 chr17:26197374:C:G 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 1,.,. recessive HG002 HG002 chr17:26197386:C:T 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 0.991525,.,. recessive HG002 HG002 chr17:26197422:A:T 2,.,. -1 -1 -1 -1 -1 -1 116,.,. 0.982759,.,. recessive HG002 HG002 chr17:26197444:A:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:26197463:A:G 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.983193,.,. recessive HG002 HG002 chr17:26197510:C:A 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.983193,.,. recessive HG002 HG002 chr17:26197518:T:G 2,.,. -1 -1 -1 -1 -1 -1 114,.,. 0.982456,.,. recessive HG002 HG002 chr17:26197525:G:C 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.983193,.,. recessive HG002 HG002 chr17:26197531:C:G 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.983193,.,. recessive HG002 HG002 chr17:26197543:C:T 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 0.982906,.,. recessive HG002 HG002 chr17:26197551:T:C 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 0.983051,.,. recessive HG002 HG002 chr17:26197564:G:A 2,.,. -1 -1 -1 -1 -1 -1 117,.,. 0.982906,.,. recessive HG002 HG002 chr17:26197592:C:G 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.983193,.,. recessive HG002 HG002 chr17:26197633:G:A 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.983193,.,. recessive HG002 HG002 chr17:26197636:G:C 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.983193,.,. recessive HG002 HG002 chr17:26197643:C:A 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 0.991525,.,. recessive HG002 HG002 chr17:26197686:T:G 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 0.991597,.,. recessive HG002 HG002 chr17:26197694:C:T 2,.,. -1 -1 -1 -1 -1 -1 119,.,. 1,.,. recessive HG002 HG002 chr17:26197699:A:T 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:26197711:T:G 2,.,. -1 -1 -1 -1 -1 -1 118,.,. 1,.,. recessive HG002 HG002 chr17:26197732:G:A 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.983333,.,. recessive HG002 HG002 chr17:26197751:G:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 1,.,. recessive HG002 HG002 chr17:26197769:G:T 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.983333,.,. recessive HG002 HG002 chr17:26197795:A:C 2,.,. -1 -1 -1 -1 -1 -1 120,.,. 0.983333,.,. recessive HG002 HG002 chr17:26197956:C:T 2,.,. -1 -1 -1 -1 -1 -1 121,.,. 0.991736,.,. recessive HG002 HG002 chr17:26198164:G:T 2,.,. -1 -1 -1 -1 -1 -1 132,.,. 1,.,. recessive HG002 HG002 chr17:26198185:C:A 2,.,. -1 -1 -1 -1 -1 -1 132,.,. 1,.,. recessive HG002 HG002 chr17:26198223:G:T 2,.,. -1 -1 -1 -1 -1 -1 131,.,. 1,.,. recessive HG002 HG002 chr17:26198235:G:T 2,.,. -1 -1 -1 -1 -1 -1 131,.,. 1,.,. recessive HG002 HG002 chr17:26198245:G:C 2,.,. -1 -1 -1 -1 -1 -1 131,.,. 1,.,. recessive HG002 HG002 chr17:26198285:T:A 2,.,. -1 -1 -1 -1 -1 -1 126,.,. 1,.,. recessive HG002 HG002 chr17:26198296:G:T 2,.,. -1 -1 -1 -1 -1 -1 128,.,. 1,.,. recessive HG002 HG002 chr17:26198302:T:C 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198304:G:T 2,.,. -1 -1 -1 -1 -1 -1 127,.,. 1,.,. recessive HG002 HG002 chr17:26198319:T:A 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198330:G:A 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198334:C:T 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198336:T:C 2,.,. -1 -1 -1 -1 -1 -1 128,.,. 1,.,. recessive HG002 HG002 chr17:26198391:C:T 2,.,. -1 -1 -1 -1 -1 -1 127,.,. 1,.,. recessive HG002 HG002 chr17:26198393:A:T 2,.,. -1 -1 -1 -1 -1 -1 115,.,. 1,.,. recessive HG002 HG002 chr17:26198409:C:G 2,.,. -1 -1 -1 -1 -1 -1 126,.,. 1,.,. recessive HG002 HG002 chr17:26198428:G:A 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198474:C:A 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198479:T:A 2,.,. -1 -1 -1 -1 -1 -1 127,.,. 1,.,. recessive HG002 HG002 chr17:26198494:C:T 2,.,. -1 -1 -1 -1 -1 -1 128,.,. 1,.,. recessive HG002 HG002 chr17:26198503:G:A 2,.,. -1 -1 -1 -1 -1 -1 126,.,. 1,.,. recessive HG002 HG002 chr17:26198518:C:T 2,.,. -1 -1 -1 -1 -1 -1 128,.,. 1,.,. recessive HG002 HG002 chr17:26198533:G:A 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 0.992248,.,. recessive HG002 HG002 chr17:26198557:C:A 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198571:T:A 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198594:G:T 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198601:G:T 2,.,. -1 -1 -1 -1 -1 -1 126,.,. 1,.,. recessive HG002 HG002 chr17:26198603:A:G 2,.,. -1 -1 -1 -1 -1 -1 128,.,. 1,.,. recessive HG002 HG002 chr17:26198636:C:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:26198665:G:T 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198674:T:A 2,.,. -1 -1 -1 -1 -1 -1 127,.,. 1,.,. recessive HG002 HG002 chr17:26198702:C:A 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198704:C:A 2,.,. -1 -1 -1 -1 -1 -1 128,.,. 1,.,. recessive HG002 HG002 chr17:26198727:T:A 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198728:T:G 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198731:C:G 2,.,. -1 -1 -1 -1 -1 -1 127,.,. 1,.,. recessive HG002 HG002 chr17:26198754:G:A 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198759:A:G 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198781:C:T 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198784:T:A 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198804:T:A 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198819:C:A 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198821:T:G 2,.,. -1 -1 -1 -1 -1 -1 128,.,. 1,.,. recessive HG002 HG002 chr17:26198834:T:A 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198853:G:T 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26198882:G:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26198891:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26198897:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26198919:C:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26198937:C:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26199101:G:T 2,.,. -1 -1 -1 -1 -1 -1 149,.,. 1,.,. recessive HG002 HG002 chr17:26199107:A:T 2,.,. -1 -1 -1 -1 -1 -1 148,.,. 0.993243,.,. recessive HG002 HG002 chr17:26199111:C:G 2,.,. -1 -1 -1 -1 -1 -1 147,.,. 1,.,. recessive HG002 HG002 chr17:26199114:T:C 2,.,. -1 -1 -1 -1 -1 -1 149,.,. 1,.,. recessive HG002 HG002 chr17:26199510:A:T 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 1,.,. recessive HG002 HG002 chr17:26199528:C:T 2,.,. -1 -1 -1 -1 -1 -1 164,.,. 1,.,. recessive HG002 HG002 chr17:26199531:C:T 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 1,.,. recessive HG002 HG002 chr17:26199589:A:T 2,.,. -1 -1 -1 -1 -1 -1 164,.,. 1,.,. recessive HG002 HG002 chr17:26199600:G:C 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 1,.,. recessive HG002 HG002 chr17:26199687:A:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26199746:G:T 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 0.992481,.,. recessive HG002 HG002 chr17:26199752:T:A 2,.,. -1 -1 -1 -1 -1 -1 135,.,. 1,.,. recessive HG002 HG002 chr17:26199779:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26199841:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26199843:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26199911:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26199932:C:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26199959:G:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26199990:A:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26199995:C:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26199997:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26200019:G:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200065:G:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200075:C:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200088:C:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26200089:C:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26200121:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26200157:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26200175:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26200204:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200217:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26200234:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26200235:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26200241:G:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200247:C:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26200254:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200267:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26200268:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26200280:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200308:C:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200326:C:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200330:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200349:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200359:C:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200409:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26200410:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26200429:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200437:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200448:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26200478:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200481:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200485:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200488:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26200504:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26200507:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200511:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26200512:TAAA:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26200711:A:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26200713:A:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200716:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200728:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.985915,.,. recessive HG002 HG002 chr17:26200729:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26200732:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26200735:A:C 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26200744:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200750:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26200751:T:C 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.985714,.,. recessive HG002 HG002 chr17:26200756:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26200762:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200769:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26200775:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200778:A:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26200780:A:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200789:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200796:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200808:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26200819:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26200822:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200826:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26200829:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26200840:G:GA 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.985816,.,. recessive HG002 HG002 chr17:26200844:A:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.992857,.,. recessive HG002 HG002 chr17:26200847:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200851:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26200861:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200880:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200883:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26200896:A:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.985816,.,. recessive HG002 HG002 chr17:26200901:C:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200905:A:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26200913:G:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.985714,.,. recessive HG002 HG002 chr17:26200914:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.985915,.,. recessive HG002 HG002 chr17:26200920:C:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26200923:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26200926:G:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26200933:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26200938:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26200939:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200946:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26200947:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26200951:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200956:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200958:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26200961:G:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26200987:G:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26200994:A:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26200999:A:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26201001:T:A 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26201005:G:C 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.985714,.,. recessive HG002 HG002 chr17:26201009:A:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.985714,.,. recessive HG002 HG002 chr17:26201012:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26201014:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.985915,.,. recessive HG002 HG002 chr17:26201018:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26201020:G:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:26201028:A:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.985816,.,. recessive HG002 HG002 chr17:26201031:C:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26201035:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201041:C:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201046:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201052:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26201055:G:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26201062:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26201066:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201076:C:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201087:C:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201107:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26201109:A:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26201110:T:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26201119:G:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201125:C:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201127:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26201143:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26201144:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201151:G:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201159:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26201162:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26201165:G:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26201175:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26201178:A:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.985816,.,. recessive HG002 HG002 chr17:26201180:A:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.985915,.,. recessive HG002 HG002 chr17:26201181:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.985915,.,. recessive HG002 HG002 chr17:26201190:C:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26201195:T:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26201196:A:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26201200:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26201202:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201219:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26201225:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26201233:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26201259:A:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201267:T:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26201273:C:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201275:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26201287:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26201294:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201296:G:C 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.985714,.,. recessive HG002 HG002 chr17:26201297:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201298:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201300:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26201310:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201317:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201319:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201322:C:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26201323:C:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201324:T:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26201331:A:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26201333:A:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26201337:C:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26201346:C:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26201352:C:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26201359:A:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201361:A:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.985915,.,. recessive HG002 HG002 chr17:26201367:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201371:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26201381:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201390:T:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:26201393:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201404:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26201415:A:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26201418:C:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201432:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.985915,.,. recessive HG002 HG002 chr17:26201438:C:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26201439:C:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201440:A:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26201443:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26201444:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26201447:C:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201448:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26201451:T:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26201457:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26201464:T:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26201467:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201470:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201475:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201484:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201494:A:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26201497:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26201500:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26201502:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201507:C:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.992857,.,. recessive HG002 HG002 chr17:26201511:C:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:26201516:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.985915,.,. recessive HG002 HG002 chr17:26201519:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201520:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201524:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26201530:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201533:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26201535:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26201537:T:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26201546:A:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201550:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201554:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201562:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26201567:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26201569:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201572:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201575:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.985915,.,. recessive HG002 HG002 chr17:26201607:G:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26201622:A:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26201633:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201635:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26201644:C:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201653:C:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26201675:A:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26201697:T:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26201700:G:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26201801:T:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26201817:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26201818:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201823:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.985915,.,. recessive HG002 HG002 chr17:26201827:C:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26201828:A:AC 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26201833:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201842:A:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26201847:A:T 2,.,. -1 -1 -1 -1 -1 -1 132,.,. 0.984848,.,. recessive HG002 HG002 chr17:26201849:T:G 2,.,. -1 -1 -1 -1 -1 -1 131,.,. 0.984733,.,. recessive HG002 HG002 chr17:26201863:T:C 2,.,. -1 -1 -1 -1 -1 -1 131,.,. 0.984733,.,. recessive HG002 HG002 chr17:26202225:A:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202238:G:T 2,.,. -1 -1 -1 -1 -1 -1 101,.,. 1,.,. recessive HG002 HG002 chr17:26202243:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202246:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202253:T:G 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26202304:A:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26202331:A:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202333:G:A 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26202402:A:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202413:A:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202424:G:A 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr17:26202450:C:A 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26202453:A:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26202454:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202461:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.990654,.,. recessive HG002 HG002 chr17:26202467:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202474:G:T 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:26202494:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202504:G:A 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26202517:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202534:G:T 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26202547:G:T 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26202556:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202610:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.990654,.,. recessive HG002 HG002 chr17:26202629:C:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26202645:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.990654,.,. recessive HG002 HG002 chr17:26202647:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202654:G:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202674:G:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.990654,.,. recessive HG002 HG002 chr17:26202675:G:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26202684:C:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 0.990566,.,. recessive HG002 HG002 chr17:26202687:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202688:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202690:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202695:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202697:A:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202703:T:C 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 0.990385,.,. recessive HG002 HG002 chr17:26202710:C:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26202712:G:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26202718:G:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26202724:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202734:G:C 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26202755:A:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 0.990566,.,. recessive HG002 HG002 chr17:26202780:G:C 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26202781:G:T 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:26202800:T:C 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 0.990385,.,. recessive HG002 HG002 chr17:26202803:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202807:T:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26202816:C:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 0.981132,.,. recessive HG002 HG002 chr17:26202820:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.990654,.,. recessive HG002 HG002 chr17:26202875:A:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26202894:A:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26202932:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202941:C:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.990654,.,. recessive HG002 HG002 chr17:26202949:T:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26202950:C:A 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26202956:G:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202962:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202969:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202974:C:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26202982:T:C 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202983:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26202992:A:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.990654,.,. recessive HG002 HG002 chr17:26202994:T:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26202995:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26203030:G:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 0.990385,.,. recessive HG002 HG002 chr17:26203041:C:G 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26203064:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26203067:G:C 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26203074:C:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26203124:C:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26203125:C:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26203130:A:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.990654,.,. recessive HG002 HG002 chr17:26203152:T:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26203163:G:A 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 0.990654,.,. recessive HG002 HG002 chr17:26203182:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26203196:A:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26203200:G:T 2,.,. -1 -1 -1 -1 -1 -1 107,.,. 1,.,. recessive HG002 HG002 chr17:26203203:T:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26203504:A:G 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 0.981132,.,. recessive HG002 HG002 chr17:26203595:G:T 2,.,. -1 -1 -1 -1 -1 -1 101,.,. 1,.,. recessive HG002 HG002 chr17:26203616:C:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203620:A:C 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203629:A:C 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr17:26203638:A:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:26203641:G:C 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr17:26203648:C:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr17:26203653:T:C 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr17:26203654:G:T 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26203661:C:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr17:26203666:G:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203671:G:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203673:A:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:26203674:A:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr17:26203676:G:C 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26203709:A:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:26203714:A:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:26203716:T:A 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:26203727:G:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203733:T:C 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203735:G:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:26203743:A:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr17:26203746:C:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr17:26203750:T:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203756:C:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr17:26203767:T:C 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203770:G:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203777:T:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203781:T:C 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203791:C:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203822:C:T 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26203824:A:T 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26203840:C:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203842:A:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203859:G:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203874:T:A 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26203877:T:A 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26203880:G:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.99,.,. recessive HG002 HG002 chr17:26203890:A:C 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 0.989691,.,. recessive HG002 HG002 chr17:26203893:A:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr17:26203896:T:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr17:26203905:C:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203910:T:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203915:G:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.99,.,. recessive HG002 HG002 chr17:26203917:T:C 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26203934:G:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203940:C:T 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 0.989899,.,. recessive HG002 HG002 chr17:26203974:A:T 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 0.989899,.,. recessive HG002 HG002 chr17:26203982:T:C 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr17:26203988:C:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26203990:C:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 0.989796,.,. recessive HG002 HG002 chr17:26204002:T:A 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26204009:C:T 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:26204013:G:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.99,.,. recessive HG002 HG002 chr17:26204015:C:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:26204025:G:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26204032:G:T 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26204034:A:G 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26204037:C:G 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 0.989899,.,. recessive HG002 HG002 chr17:26204039:T:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:26204046:A:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.99,.,. recessive HG002 HG002 chr17:26204061:C:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.99,.,. recessive HG002 HG002 chr17:26204067:C:T 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26204074:A:C 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr17:26204076:A:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr17:26204086:C:G 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26204096:G:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26204105:T:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26204108:T:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.98,.,. recessive HG002 HG002 chr17:26204130:A:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:26204153:C:G 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 0.989899,.,. recessive HG002 HG002 chr17:26204155:A:C 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 0.989899,.,. recessive HG002 HG002 chr17:26204158:T:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26204159:T:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26204162:C:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26204163:G:T 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26204166:T:G 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 0.989796,.,. recessive HG002 HG002 chr17:26204182:C:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.99,.,. recessive HG002 HG002 chr17:26204185:G:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26204190:A:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26204199:T:G 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 0.989899,.,. recessive HG002 HG002 chr17:26204202:T:A 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 0.989899,.,. recessive HG002 HG002 chr17:26204209:A:G 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.99,.,. recessive HG002 HG002 chr17:26204212:C:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26204215:T:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26204217:T:G 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26204222:C:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 0.989796,.,. recessive HG002 HG002 chr17:26204231:C:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 0.989796,.,. recessive HG002 HG002 chr17:26204234:G:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.99,.,. recessive HG002 HG002 chr17:26204235:T:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26204245:C:T 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 0.989899,.,. recessive HG002 HG002 chr17:26204247:C:T 2,.,. -1 -1 -1 -1 -1 -1 94,.,. 1,.,. recessive HG002 HG002 chr17:26204250:C:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26204252:T:G 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26204261:A:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.99,.,. recessive HG002 HG002 chr17:26204265:T:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26204269:T:A 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.99,.,. recessive HG002 HG002 chr17:26204277:T:C 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 0.99,.,. recessive HG002 HG002 chr17:26204282:T:G 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 0.989899,.,. recessive HG002 HG002 chr17:26204284:G:T 2,.,. -1 -1 -1 -1 -1 -1 100,.,. 1,.,. recessive HG002 HG002 chr17:26204287:T:C 2,.,. -1 -1 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recessive HG002 HG002 chr17:26204542:C:G 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:26204545:T:C 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26204549:T:C 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 0.989899,.,. recessive HG002 HG002 chr17:26204556:C:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 0.988372,.,. recessive HG002 HG002 chr17:26204558:A:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 0.989796,.,. recessive HG002 HG002 chr17:26204582:T:C 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 0.989899,.,. recessive HG002 HG002 chr17:26204941:A:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:26204951:A:C 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:26204954:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26204962:C:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:26204969:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205020:A:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:26205046:G:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:26205118:A:T 2,.,. -1 -1 -1 -1 -1 -1 81,.,. 1,.,. recessive HG002 HG002 chr17:26205140:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26205164:G:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205166:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205169:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205170:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205177:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26205183:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205190:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26205193:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205196:A:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205201:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205210:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205213:A:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205220:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205223:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205228:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205232:A:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205242:A:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205246:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205256:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205259:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205261:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205263:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205286:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205292:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:26205326:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205334:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205340:A:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205345:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205354:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205361:T:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205363:C:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205364:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205365:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205367:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205377:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205384:T:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205386:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205389:G:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205391:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205398:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205400:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205401:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205406:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:26205413:A:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26205419:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205421:A:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205426:C:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26205428:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205434:G:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:26205440:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205449:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205450:G:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205457:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205464:T:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26205471:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205475:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205496:G:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26205497:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205505:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:26205510:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205516:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205518:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205519:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205523:T:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26205532:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:26205534:G:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205536:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205550:T:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26205553:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205572:A:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205575:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205585:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205588:G:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:26205590:T:A 2,.,. -1 -1 -1 -1 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2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26205666:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205672:G:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205675:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205678:C:G 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:26205685:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205690:C:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26205691:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205698:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205703:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205708:A:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205710:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205711:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205713:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205739:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205746:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205751:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:26205757:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205759:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:26205761:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205764:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205770:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205772:T:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26205780:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205783:G:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205801:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205803:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205818:C:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26205819:A:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26205822:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26205840:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205841:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205846:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205852:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205860:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205865:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205868:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26205870:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26205879:G:A 2,.,. -1 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recessive HG002 HG002 chr17:26206292:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206326:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206327:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206332:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206336:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206344:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26206345:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206351:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206354:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206357:G:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206364:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206369:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206370:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206377:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206382:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206387:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206389:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206390:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206392:G:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206430:A:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26206436:G:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26206440:A:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26206443:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206449:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206451:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26206459:A:G 2,.,. -1 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recessive HG002 HG002 chr17:26206664:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206690:A:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26206698:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206704:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206706:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206709:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206718:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206725:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26206727:G:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26206728:T:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26206729:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206731:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206741:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206748:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206750:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206753:C:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26206764:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206770:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206777:C:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206783:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26206790:A:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26206792:A:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26206802:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206812:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206824:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206846:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206871:A:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206874:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206875:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206888:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206895:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206898:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206901:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206906:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206915:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206918:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206925:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206928:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 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recessive HG002 HG002 chr17:26206993:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26206998:T:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:26207003:T:C 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26207064:T:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26207066:C:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26207131:G:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26207225:A:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26207226:C:G 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26207232:T:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26207248:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26207249:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26207254:A:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26207258:C:G 2,.,. -1 -1 -1 -1 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recessive HG002 HG002 chr17:26208106:G:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208116:C:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208120:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208135:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208142:C:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208166:G:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208232:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208235:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208252:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208268:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208269:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208293:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208305:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208348:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208361:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208366:A:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208378:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208379:C:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208385:G:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208391:C:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208398:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208399:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208403:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208411:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208424:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208459:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208472:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208474:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208485:T:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26208493:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208496:G:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208516:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208532:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208535:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208554:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208559:A:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208565:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208573:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208578:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208581:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208629:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208632:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208648:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208651:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208873:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208876:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208892:C:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208895:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208900:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208906:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208919:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208922:A:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26208973:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209045:C:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209057:G:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26209058:A:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209064:C:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209070:G:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209077:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209082:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209083:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209090:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209102:A:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209105:G:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209138:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209151:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209153:A:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209164:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209172:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209179:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209185:C:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209251:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209254:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209271:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209324:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209334:C:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209335:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209346:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209403:A:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209411:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209417:C:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209422:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209441:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209442:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209461:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209463:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209466:C:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209467:C:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209477:A:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209481:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209496:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209503:A:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209537:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209595:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209611:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209614:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209631:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209638:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209646:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209651:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209655:C:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209660:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26209674:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209676:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209677:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209679:C:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209681:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209694:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209698:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209706:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209713:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26209777:T:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26209906:G:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26209962:G:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26209967:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26209971:C:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26209974:T:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26209983:GC:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26209985:C:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26209987:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26209988:C:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26210011:T:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26210013:T:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26257003:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26257025:G:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:26257083:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26257161:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26257386:A:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257402:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257405:G:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257424:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257429:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257443:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257448:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257574:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257586:G:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257587:A:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257593:C:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257599:G:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257606:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257611:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257612:G:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257678:G:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26257682:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26257693:G:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26257701:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257714:C:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257780:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257783:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257800:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257863:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257864:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257875:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257932:A:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257940:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257946:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257951:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257970:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257971:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257990:G:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257995:C:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257996:C:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26257997:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26258032:A:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26258140:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26258143:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26258160:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26258167:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26258179:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26258180:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26258189:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26258203:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26258205:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26258206:G:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26258208:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26258210:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26258227:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26258255:G:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26258374:C:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26258435:G:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:26258490:G:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:26258491:G:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:26258496:A:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:26258503:T:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26258827:T:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26258833:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26258899:A:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26258907:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259116:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259135:G:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259151:T:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259214:T:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259217:A:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259284:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259292:C:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:26259298:A:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259322:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259323:A:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259342:T:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259384:C:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259608:A:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259620:T:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259621:C:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259640:T:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259716:T:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:26259727:T:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259735:G:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26259738:G:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26259758:T:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26259774:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26259796:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26259815:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26259820:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26259867:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26259874:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26259893:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260115:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260118:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260137:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260142:T:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260156:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260161:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260287:C:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26260299:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260300:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260312:G:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260319:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260324:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260395:A:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26260645:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260653:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260659:C:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260683:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260684:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260703:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260708:C:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260709:C:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260710:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260837:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260853:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260888:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260916:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260919:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260923:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260940:T:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260955:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26260968:G:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr17:26260994:C:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26261075:C:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26261204:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26261209:A:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26261485:T:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26261546:T:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261612:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261620:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261640:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261733:T:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261765:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261822:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261830:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261841:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261845:G:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261849:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261865:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261868:C:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261873:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261885:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261905:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261918:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261928:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261931:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261933:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261935:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261955:GC:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26261974:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26261999:T:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262007:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262013:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262037:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262038:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262057:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262059:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262062:G:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262063:G:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262077:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262099:C:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262230:C:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262272:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262284:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262307:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262325:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262337:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262338:C:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262350:C:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262357:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262370:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262433:T:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26262452:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26262455:G:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26262475:T:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26262491:A:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26262494:C:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26262513:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26262518:A:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26262532:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26262537:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26262540:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26262584:A:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26262591:T:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26262603:AC:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26262816:A:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26262832:G:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26262835:G:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26262854:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26262859:T:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26262878:G:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26262892:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26262929:T:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26263004:C:A 2,.,. -1 -1 -1 -1 -1 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-1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26263210:C:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26263213:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26263230:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26263247:G:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26263303:G:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26263322:G:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26263362:A:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26263370:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26263376:C:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26263400:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26263401:G:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26263420:G:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 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recessive HG002 HG002 chr17:26264530:A:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26264545:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264551:G:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264553:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264556:A:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26264557:G:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26264561:T:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264564:G:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26264580:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264583:A:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264588:G:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264597:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264600:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264607:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26264610:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264615:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264619:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264629:A:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26264633:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264637:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264643:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264646:A:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264648:A:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264650:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264679:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264713:T:A 2,.,. -1 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recessive HG002 HG002 chr17:26264949:T:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264955:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264958:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264961:T:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264971:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264974:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26264986:A:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264987:G:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264991:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26264996:A:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26264998:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26265021:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26265034:G:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26265039:A:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26265043:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26265051:T:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26265052:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26265058:G:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26265061:T:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26265064:C:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26265071:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26265076:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26265077:T:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26265084:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26265089:T:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26265094:A:G 2,.,. -1 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recessive HG002 HG002 chr17:26265324:T:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:26265530:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265545:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265546:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265549:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265552:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265567:A:C 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26265568:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265573:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265579:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265587:T:G 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26265592:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265606:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265613:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265643:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265646:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265657:G:GA 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26265664:G:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26265713:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265718:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265722:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265730:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265731:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265737:C:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265740:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265743:G:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265750:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265755:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265756:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265763:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265773:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265775:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265776:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265816:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265822:G:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265824:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265826:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265829:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265837:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:26265845:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265848:C:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265852:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265858:C:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265863:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265867:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265869:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265879:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265883:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265893:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265905:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265924:C:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26265926:A:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26265927:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265944:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265961:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265979:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.983051,.,. recessive HG002 HG002 chr17:26265982:G:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26265992:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26265995:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.983051,.,. recessive HG002 HG002 chr17:26266007:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266008:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266012:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266017:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266019:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266050:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266076:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266084:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266090:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266092:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266095:T:C 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26266104:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266111:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266113:G:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266114:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266115:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266127:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266134:G:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26266136:A:G 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26266139:C:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266141:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266148:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266150:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266163:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266169:C:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26266176:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266198:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266210:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266232:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266257:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266260:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266261:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266265:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266268:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266284:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266287:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266292:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266301:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266304:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.983051,.,. recessive HG002 HG002 chr17:26266311:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.983051,.,. recessive HG002 HG002 chr17:26266314:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266317:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266319:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266323:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266324:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266330:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266333:C:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26266336:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266347:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266349:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266350:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266352:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266354:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266367:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266371:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266379:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266384:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266386:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266389:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266392:T:C 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26266399:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266424:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266426:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266450:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266452:C:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26266479:A:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26266514:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266517:G:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266518:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266640:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266644:C:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266647:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266651:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266656:GC:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266658:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266660:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266661:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266955:C:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26266971:T:G 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26266972:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266977:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266981:G:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26266988:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267000:T:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.982456,.,. recessive HG002 HG002 chr17:26267021:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267026:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267030:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267039:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267043:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267051:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267056:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267058:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267064:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267071:T:G 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recessive HG002 HG002 chr17:26267599:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267618:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.983051,.,. recessive HG002 HG002 chr17:26267621:C:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26267638:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267654:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267655:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267661:G:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26267664:T:G 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26267673:A:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26267676:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267679:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267734:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267747:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267752:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267756:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267764:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267765:C:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26267771:G:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267774:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267777:C:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267784:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267789:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267790:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267797:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267798:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267802:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267807:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267809:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267810:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267812:C:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267845:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267850:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267856:C:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267858:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267860:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267863:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267869:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26267871:T:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 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65,.,. 1,.,. recessive HG002 HG002 chr17:26268280:A:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268281:T:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268286:T:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268292:G:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268300:T:G 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 0.984375,.,. recessive HG002 HG002 chr17:26268305:G:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268308:A:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268319:A:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268326:A:G 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:26268349:T:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268356:T:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 0.984615,.,. recessive HG002 HG002 chr17:26268359:G:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268370:G:GA 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:26268377:G:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268391:G:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268426:A:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268431:C:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268435:A:C 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:26268443:G:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268444:A:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268450:C:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268453:A:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268456:G:C 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:26268463:C:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268468:T:C 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 0.984615,.,. recessive HG002 HG002 chr17:26268469:G:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 0.984615,.,. recessive HG002 HG002 chr17:26268476:C:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268481:G:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268486:G:A 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268488:A:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268489:A:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268524:A:G 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268529:A:G 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26268539:A:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26268542:G:T 2,.,. -1 -1 -1 -1 -1 -1 65,.,. 1,.,. recessive HG002 HG002 chr17:26268548:T:C 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:26268550:G:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26268558:A:G 2,.,. -1 -1 -1 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2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26270498:T:C 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26270503:C:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:26270511:T:C 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26270512:G:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26270516:T:G 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26270559:G:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26270564:G:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:26270574:T:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:26270585:T:G 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:26270593:G:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26270596:G:C 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:26270614:C:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26270616:T:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:26270632:A:G 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26270635:C:T 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 0.985714,.,. recessive HG002 HG002 chr17:26270653:C:A 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:26270654:C:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:26270659:A:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:26270681:T:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:26270692:G:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26270725:A:G 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26270729:G:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:26270732:T:G 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:26270748:T:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26270957:A:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26270972:A:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26270973:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26270976:T:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26270994:A:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26270995:T:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26271000:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26271006:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26271019:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26271033:A:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26271040:A:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26271070:T:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271073:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271103:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271124:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271127:T:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:26271145:C:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271157:G:T 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 0.986842,.,. recessive HG002 HG002 chr17:26271158:A:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271164:C:G 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:26271167:A:T 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:26271170:G:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271177:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271183:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271190:C:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271195:G:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271200:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271205:G:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271238:A:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271243:A:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271251:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271253:A:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271256:G:T 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:26271262:T:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271264:G:T 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:26271272:A:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271275:C:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:26271279:T:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271285:C:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:26271290:G:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271296:T:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271306:T:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271310:T:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271320:C:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271332:T:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271351:C:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271387:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271388:G:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271403:T:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271406:T:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271409:G:T 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:26271419:A:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271422:A:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:26271425:T:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271434:C:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271439:T:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271446:T:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271463:G:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:26271503:A:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271511:T:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271517:C:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271519:T:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271522:T:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271531:T:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271540:G:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271541:T:C 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:26271542:G:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271544:C:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271554:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271561:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271563:A:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271566:C:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:26271575:A:G 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271578:T:C 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:26271590:C:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271596:C:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26271603:A:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:26271637:T:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271659:A:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271684:A:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271688:T:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271692:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271695:T:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271711:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271714:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271719:A:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271731:T:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271741:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271744:T:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:26271746:T:G 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 0.986842,.,. recessive HG002 HG002 chr17:26271750:T:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271760:C:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:26271774:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271779:C:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271781:T:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271798:T:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271806:T:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26271813:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271819:T:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271826:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26271877:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26271897:C:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26271919:A:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26271939:T:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:26272061:G:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:26272062:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26272067:A:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26272071:C:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26272074:T:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26272087:A:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26272110:C:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26272470:A:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:26272488:C:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:26272491:C:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:26272549:A:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:26272578:G:A 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 1,.,. recessive HG002 HG002 chr17:26272647:A:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:26272706:G:T 2,.,. -1 -1 -1 -1 -1 -1 80,.,. 0.9875,.,. recessive HG002 HG002 chr17:26272739:G:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:26272792:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26272855:T:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:26272871:A:C 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:26272874:C:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:26272955:C:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:26272957:G:A 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:26272963:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26273186:C:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:26273194:T:G 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:26273195:C:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:26273201:G:C 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:26273207:C:G 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:26273214:T:C 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:26273219:C:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:26273227:T:C 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:26273239:T:A 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:26273268:C:G 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:26273286:C:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 0.988235,.,. recessive HG002 HG002 chr17:26273309:G:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 0.988095,.,. recessive HG002 HG002 chr17:26273312:G:C 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 1,.,. recessive HG002 HG002 chr17:26273370:C:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 0.988095,.,. recessive HG002 HG002 chr17:26273408:G:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 0.988235,.,. recessive HG002 HG002 chr17:26273438:C:T 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 0.987952,.,. recessive HG002 HG002 chr17:26273441:A:G 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 0.987952,.,. recessive HG002 HG002 chr17:26273445:G:T 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:26273448:T:G 2,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.987805,.,. recessive HG002 HG002 chr17:26273692:T:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:26273861:C:A 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:26273883:A:T 2,.,. -1 -1 -1 -1 -1 -1 70,.,. 1,.,. recessive HG002 HG002 chr17:26273899:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:26273916:G:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:26273954:A:G 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 0.985915,.,. recessive HG002 HG002 chr17:26273972:G:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:26273980:G:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:26273995:T:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26274026:T:C 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26274067:C:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:26274104:G:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26274150:C:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26274162:T:C 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26274233:C:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 0.986667,.,. recessive HG002 HG002 chr17:26274264:C:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:26274270:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:26274277:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:26274291:A:G 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:26274312:C:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:26274341:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:26274427:C:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:26274430:G:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:26274435:A:G 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:26274454:A:G 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 0.985915,.,. recessive HG002 HG002 chr17:26274457:C:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:26274460:T:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:26274462:T:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:26274487:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:26274495:C:A 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:26274497:T:G 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:26274510:T:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:26274529:G:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:26274595:C:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 1,.,. recessive HG002 HG002 chr17:26274635:A:T 2,.,. -1 -1 -1 -1 -1 -1 71,.,. 0.985915,.,. recessive HG002 HG002 chr17:26274783:A:T 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.986486,.,. recessive HG002 HG002 chr17:26274787:C:G 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:26274790:T:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:26275186:A:T 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. recessive HG002 HG002 chr17:26275199:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26275265:A:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26275363:A:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26275411:C:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26275419:T:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 0.983871,.,. recessive HG002 HG002 chr17:26275422:G:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26275455:G:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26275465:G:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr17:26275495:G:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26275508:G:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.983333,.,. recessive HG002 HG002 chr17:26275590:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.983051,.,. recessive HG002 HG002 chr17:26275608:C:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26275671:C:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr17:26275695:G:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26275742:G:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26275761:T:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.983333,.,. recessive HG002 HG002 chr17:26275764:C:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26275804:G:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26275877:C:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr17:26275907:T:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26275908:C:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26275914:G:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26275920:C:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26275927:T:C 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26275932:C:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26275940:T:C 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26275941:G:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26275988:G:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.983333,.,. recessive HG002 HG002 chr17:26275999:C:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26276003:T:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 0.983871,.,. recessive HG002 HG002 chr17:26276022:G:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26276025:G:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26276083:C:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 0.983871,.,. recessive HG002 HG002 chr17:26276102:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr17:26276158:G:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 0.983871,.,. recessive HG002 HG002 chr17:26276161:T:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 0.983871,.,. recessive HG002 HG002 chr17:26276384:A:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr17:26276405:G:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 0.983333,.,. recessive HG002 HG002 chr17:26276574:C:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26276578:A:C 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26276596:A:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26276612:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276629:G:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26276631:A:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26276672:A:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:26276685:G:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26276693:G:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26276708:T:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26276725:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276735:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276739:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276761:T:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:26276780:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276782:A:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:26276800:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276817:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276835:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276838:G:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26276848:A:C 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26276851:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276863:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276873:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276875:T:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276946:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276948:C:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26276971:G:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26276983:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276990:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276992:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276995:C:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26276997:T:G 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26277006:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26277019:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26277025:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26277116:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26277117:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26277121:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26277124:T:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:26277140:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26277143:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26277148:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26277170:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26277173:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26277175:T:G 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26277208:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26277210:T:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26277223:T:A 2,.,. -1 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chr17:26278621:C:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26278627:G:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26278633:C:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26278640:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26278653:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26278665:T:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26278735:G:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26278796:C:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26278874:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26279118:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26279134:C:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:26279326:A:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26279347:G:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:26279385:A:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26279530:G:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:26279576:C:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:26279588:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26279659:C:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:26279703:G:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:26279856:G:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:26279880:A:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:26279923:T:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:26280203:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:26280209:A:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:26280213:C:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:26280228:A:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:26280484:T:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26280507:C:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26280522:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26280545:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280589:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280606:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280610:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280618:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280638:T:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280731:T:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280736:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280753:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280758:A:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280776:T:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26280834:G:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280836:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280839:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280840:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280847:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280863:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280866:A:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280883:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26280890:G:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280893:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280898:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280902:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26280912:A:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280920:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280926:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280929:A:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280931:A:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26280933:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26280996:T:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26281004:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26281010:A:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26281034:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26281035:A:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26281047:T:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26281054:T:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26281059:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26281060:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26281070:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26281083:A:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26281089:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26281096:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26281120:G:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:26281189:C:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:26281510:G:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:26281515:A:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:26281529:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:26281588:T:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:26281714:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26281813:A:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26281816:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26281829:G:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26281832:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26281835:A:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26281848:C:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. recessive HG002 HG002 chr17:26281850:A:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26281851:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. recessive HG002 HG002 chr17:26281856:T:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26281862:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26281875:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26281889:A:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26281926:T:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26281929:G:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26281940:G:GA 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282001:C:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282013:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26282014:A:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282020:C:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282023:A:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26282033:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282038:T:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26282039:G:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282046:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282056:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282058:A:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282099:A:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26282105:G:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282107:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282109:A:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282112:G:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. recessive HG002 HG002 chr17:26282120:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26282128:A:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282131:C:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282135:T:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282141:C:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282152:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282166:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282207:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282209:A:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282210:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282227:A:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26282244:G:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26282262:T:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282265:G:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26282275:A:C 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26282278:A:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282290:C:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282291:T:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282300:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282302:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282359:A:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282367:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282373:C:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282375:C:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282378:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282397:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282398:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282410:G:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. recessive HG002 HG002 chr17:26282417:G:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282419:A:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26282422:C:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26282423:C:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282424:T:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282433:A:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282446:C:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282452:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282459:A:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26282493:T:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282543:T:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26282544:T:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26282548:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:26282551:T:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282567:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282570:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282587:T:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. recessive HG002 HG002 chr17:26282594:A:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282597:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282602:T:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282606:T:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282607:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282613:A:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26282616:C:A 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26282630:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282632:C:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26282633:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282635:C:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282637:T:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282650:T:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282654:T:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282662:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282667:T:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. recessive HG002 HG002 chr17:26282682:G:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282708:C:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. recessive HG002 HG002 chr17:26282733:T:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26282801:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26282894:A:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26282901:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26282917:G:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr17:26282918:G:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26282922:C:A 2,.,. -1 -1 -1 0.00210231 3 6 52,.,. 1,.,. recessive HG002 HG002 chr17:26282923:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26282927:C:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26282930:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26282943:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26283326:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26283503:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26283543:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26283605:G:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26283648:G:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26283711:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26283730:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26283775:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26283785:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26283798:A:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26283804:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26283811:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26283835:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26283882:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26283953:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284032:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284049:T:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26284050:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284056:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284062:C:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284069:T:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284074:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284082:T:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26284092:A:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284130:G:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26284167:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284225:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284230:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284244:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284303:T:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284429:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26284716:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284719:T:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284720:A:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284738:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26284754:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284773:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26284809:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26284827:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284835:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26284942:A:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284959:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26284993:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26285005:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285017:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285088:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285125:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285132:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285134:A:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285137:C:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285161:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285167:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285263:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285266:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26285282:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285285:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285312:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285315:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285347:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26285350:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285352:T:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26285642:C:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26285645:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26286041:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26286218:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26286258:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26286266:C:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26286269:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26286270:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26286274:T:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:26286277:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr17:26286320:G:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26286363:G:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr17:26286426:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26286442:A:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26286445:C:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:26286490:G:C 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26286500:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26286513:A:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26286526:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26286550:G:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26286619:C:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26286690:A:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26286908:C:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26286940:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26286945:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26287015:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26287018:T:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26287432:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26287445:T:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26287470:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:26287512:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26287543:G:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26287638:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26287675:G:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26287721:C:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26287733:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26287804:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26287841:G:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26287848:G:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26287850:A:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26288001:G:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26288028:C:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26288031:T:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26288063:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26288273:C:T 2,.,. -1 -1 -1 0.00280308 4 8 53,.,. 1,.,. recessive HG002 HG002 chr17:26288353:C:A 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26288358:C:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr17:26288361:T:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:26288757:A:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:26289027:G:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:26289089:T:A 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:26289180:C:G 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:26289207:G:C 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:26289220:G:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:26289267:G:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:26289313:G:C 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:26289337:C:G 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:26289376:T:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:26289409:C:T 2,.,. -1 -1 -1 0.00210231 3 6 67,.,. 1,.,. recessive HG002 HG002 chr17:26289606:C:A 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:26289622:C:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:26289657:C:T 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:26289714:G:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:26290127:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26290148:C:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26290186:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26290208:G:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26290248:T:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26290282:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26290391:G:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26290437:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.983051,.,. recessive HG002 HG002 chr17:26290442:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26290496:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26290507:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26290520:C:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26290534:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26290557:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.983051,.,. recessive HG002 HG002 chr17:26290564:G:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26290566:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26290599:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26290717:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26290722:A:G 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26290744:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26291064:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26291074:C:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26291077:T:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26291473:A:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26291491:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:26291650:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26291701:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26291715:T:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26291832:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26291858:T:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26291877:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26291893:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26291895:C:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26291920:G:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26291982:G:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26292029:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26292055:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26292091:G:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26292172:T:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26292186:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26292193:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26292194:T:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26292201:G:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26292207:C:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26292214:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26292227:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26292240:G:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26292268:C:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26292319:C:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26292370:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26292375:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26292427:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26292841:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:26292862:C:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26293105:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26293151:C:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26293278:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26293431:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26293778:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26312522:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26312642:G:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26312648:A:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26312986:T:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26313372:A:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26313437:T:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26313451:A:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26313476:A:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26313761:A:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26313793:T:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26313869:T:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26313911:T:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26313927:A:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26314027:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26314473:C:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26314486:C:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26314799:A:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26314813:C:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26314864:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26314933:T:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26315077:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26315094:T:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26315237:T:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26315335:C:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26315357:G:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26315363:A:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26315695:T:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26315701:T:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26315767:A:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26315775:C:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26315920:TA:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26316020:T:C 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26316055:G:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26316088:A:C 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26316153:T:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26316167:A:C 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26316191:C:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26316192:A:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26316211:T:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26316227:C:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26316684:G:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26316987:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26317514:A:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:26317553:G:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26317572:G:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26317722:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26317787:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26317792:T:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:26318078:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26318482:A:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26318715:T:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26318718:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26318867:T:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26318967:C:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26319379:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26319398:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26319457:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26319870:C:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26320004:T:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26320096:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26320188:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26320242:C:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26320267:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26320286:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26320288:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26320291:C:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26320302:A:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26320436:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26320501:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26320504:C:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26320506:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26320538:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26320555:A:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321196:A:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321349:TA:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321430:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321433:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321519:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26321582:T:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321646:G:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321660:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321682:C:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321741:A:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26321754:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321793:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321919:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321920:C:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321926:G:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321932:C:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321939:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26321944:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr17:26322037:G:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26322095:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26322100:A:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26322122:T:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26322173:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26322420:A:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:26322433:C:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:26322586:C:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:26322679:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26322875:C:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:26322887:T:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:26322958:C:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:26323002:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26323004:A:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:26323007:C:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:26323063:A:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:26323066:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26323152:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26323220:C:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:26323222:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26323508:A:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:26323911:A:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:26324037:A:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:26324064:TA:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:26324081:G:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:26324100:A:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr17:26324161:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26324164:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324166:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324167:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324172:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324184:A:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324204:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324217:A:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324227:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324230:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324232:A:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324234:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324297:T:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324305:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26324311:A:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324316:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26324335:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324336:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324355:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324357:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324360:G:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324361:G:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324371:C:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324375:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324390:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324397:C:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26324409:G:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:26324421:G:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324456:A:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324477:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26324812:C:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:26324831:G:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:26324890:T:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr17:26325140:C:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26325337:C:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26325358:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26325531:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26325539:A:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26325638:A:C 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:26325643:G:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26325646:G:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26325694:A:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26325699:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26325904:G:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26325982:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26326000:C:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26326021:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26337510:A:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26337610:T:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26337835:A:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26337851:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26337854:G:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26337873:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26337878:T:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26337892:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26337930:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26337950:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338025:C:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338037:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338038:A:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338044:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338050:G:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338057:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338062:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338082:A:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338085:G:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338165:C:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338220:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338234:T:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26338251:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338268:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338304:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338325:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338384:A:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338392:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338398:C:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338422:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338423:G:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr17:26338442:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338444:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338447:C:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338448:C:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338458:A:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338462:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338485:A:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr17:26338953:C:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26338956:T:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26339352:A:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26339360:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26339624:A:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26339667:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26339737:T:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26339745:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26339775:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340043:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340073:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340074:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340080:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340086:C:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340093:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26340098:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340106:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340118:T:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340188:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340191:G:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26340211:T:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340249:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340268:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340327:T:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26340568:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340571:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340587:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340601:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340614:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340703:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340721:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26340850:A:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26340861:G:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26341031:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26341043:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26341108:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26341114:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26341138:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26341139:G:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26341160:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26342068:A:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26342076:C:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26342238:G:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26342246:A:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26342265:T:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26342338:G:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26342384:T:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26342454:T:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26342462:C:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:26342792:T:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:26342793:C:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:26342799:G:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:26342805:C:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:26342817:C:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:26342826:G:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:26342910:G:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26343287:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:26343290:T:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr17:26343308:A:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26343333:G:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:26343459:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26343634:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26343702:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26343760:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26343777:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26343831:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26345103:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26345181:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26345494:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26345511:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26345512:C:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26345518:G:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26345544:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26345545:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26346009:T:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26346025:C:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26361878:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26361882:T:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362008:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362031:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362056:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362064:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362083:T:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26362250:G:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26362296:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362303:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362315:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26362346:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362351:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362397:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26362418:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362432:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362458:C:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26362518:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26362543:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26362570:A:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362572:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:26362647:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362659:T:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26362694:T:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26362714:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362715:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362720:T:G 2,.,. -1 -1 -1 0.00140154 2 4 43,.,. 1,.,. recessive HG002 HG002 chr17:26362736:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362739:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362773:T:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362790:G:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26362820:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362844:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26362858:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362865:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362869:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362871:C:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26362923:C:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26362925:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26363313:C:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:26363333:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:26363394:A:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:26363398:C:G 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:26363401:T:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26363414:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr17:26363421:T:A 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr17:26363629:A:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr17:26364024:C:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:26364035:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:26364068:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:26364078:G:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr17:26364095:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26364108:G:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr17:26364171:A:C 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:26364183:T:C 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:26364202:C:G 2,.,. -1 -1 -1 -1 -1 -1 67,.,. 1,.,. recessive HG002 HG002 chr17:26364221:C:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:26364247:G:C 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:26364283:C:G 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 1,.,. recessive HG002 HG002 chr17:26364297:T:C 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:26364647:C:A 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:26364703:A:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:26364717:G:T 2,.,. -1 -1 -1 -1 -1 -1 75,.,. 1,.,. recessive HG002 HG002 chr17:26364765:C:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:26364773:G:T 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:26364776:T:G 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:26364789:A:G 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:26364790:T:A 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:26364800:T:G 2,.,. -1 -1 -1 -1 -1 -1 72,.,. 1,.,. recessive HG002 HG002 chr17:26364853:A:C 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:26364856:C:A 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.986301,.,. recessive HG002 HG002 chr17:26365032:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26365036:C:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26365068:A:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26365149:G:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26365364:C:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26365432:G:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26365575:T:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26366443:A:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26366522:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26366542:T:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:26366619:G:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26366623:G:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26366919:C:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr17:26366938:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26370218:A:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26375355:T:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:26375753:T:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26375916:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26376242:A:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26376256:C:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26376281:G:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26376537:T:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26376680:T:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26377143:T:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26377308:G:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26377530:A:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26377561:T:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26377609:A:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26377634:A:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26377951:T:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26378069:T:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26378126:G:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:26378185:T:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26378204:T:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26378467:T:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26378739:C:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26378957:A:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26378971:C:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26379232:G:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:26379236:T:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26379253:T:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26379396:T:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26379515:G:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26380244:A:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26380275:T:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26380309:T:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26380323:A:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26380348:A:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26380407:TC:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26380669:T:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:26380787:T:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26380844:G:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26380903:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26380922:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26381348:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26381424:A:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26381619:GA:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26381675:A:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26381689:C:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26381714:G:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26381733:G:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26381809:T:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26381883:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26381949:G:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26381953:T:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26381970:T:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26382048:C:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:26382629:A:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26382671:T:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26382860:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26382879:G:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26382895:T:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26382935:T:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26382948:A:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26382958:T:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26382963:A:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26382965:G:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383028:T:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383036:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383042:A:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383066:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383067:A:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383086:T:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383092:G:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383102:C:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383106:T:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383128:C:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383334:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383352:A:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383384:T:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383397:T:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383460:T:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383471:T:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383482:G:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383502:T:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383518:A:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383521:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383540:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383545:A:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383559:G:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26383618:T:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383637:T:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383843:A:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383862:G:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383881:T:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383900:T:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383905:G:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383908:A:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr17:26383959:G:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384031:C:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384043:G:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384063:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384139:A:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384158:A:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384389:A:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384397:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384403:C:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384427:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384428:G:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384447:G:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384448:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384453:C:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384463:A:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384523:T:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384565:C:CT 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384568:C:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384597:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384632:T:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384667:T:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:26384684:T:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384712:G:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384827:T:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384948:G:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26384957:C:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26385290:T:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:26385356:A:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:26385755:A:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:26386215:T:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:26386272:G:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:26386350:T:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:26386613:T:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:26386776:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:26387397:T:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:26387666:A:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:26399469:G:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26399486:T:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26399487:C:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26399493:G:C 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26399499:C:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26399506:T:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr17:26399511:C:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26399519:T:C 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26399520:G:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26399531:T:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr17:26399586:G:C 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr17:26399611:C:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26399624:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.983051,.,. recessive HG002 HG002 chr17:26399627:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26399681:G:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr17:26399700:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr17:26400153:C:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:26400328:C:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:26400454:T:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:26400569:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:26400793:C:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26401657:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26401729:G:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26401789:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26401811:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26401929:G:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26402204:T:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26402278:C:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26402345:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26422311:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26422597:A:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26451829:A:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26451836:T:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26451902:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26452233:A:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26452261:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26452410:A:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26452450:C:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26452458:C:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26452466:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26452469:G:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26452505:A:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26452512:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26452555:G:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26452618:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26452637:C:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26452682:G:C 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:26452718:C:A 2,.,. -1 -1 -1 -1 -1 -1 74,.,. 1,.,. recessive HG002 HG002 chr17:26452939:T:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26452940:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26452949:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26452957:T:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26452958:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26452964:G:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26452970:C:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26452982:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26452990:T:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26452991:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26453002:T:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26453049:C:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26453072:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26453095:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26453132:C:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26453133:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26453138:A:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26453152:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26453171:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26453204:A:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26453211:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26453337:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:26453356:C:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:26453519:A:G 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 0.988372,.,. recessive HG002 HG002 chr17:26453624:C:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26453646:A:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:26453662:G:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26453679:G:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26453741:T:C 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26453758:T:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26453789:T:C 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26453799:C:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26453832:A:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26453848:C:G 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26453866:C:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26453867:G:A 2,.,. -1 -1 -1 -1 -1 -1 73,.,. 1,.,. recessive HG002 HG002 chr17:26453918:T:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26453925:T:C 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26453942:G:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26453972:G:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26453983:C:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26453996:C:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26454013:G:C 2,.,. -1 -1 -1 0.00315347 3 9 85,.,. 1,.,. recessive HG002 HG002 chr17:26454023:C:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:26454033:G:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26454040:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:26454042:A:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:26454054:A:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:26454219:TG:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 0.988636,.,. recessive HG002 HG002 chr17:26454293:G:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26454305:G:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26454331:G:T 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr17:26454337:T:G 2,.,. -1 -1 -1 -1 -1 -1 102,.,. 1,.,. recessive HG002 HG002 chr17:26454377:C:G 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26454399:A:T 2,.,. -1 -1 -1 -1 -1 -1 101,.,. 1,.,. recessive HG002 HG002 chr17:26454424:G:C 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26454466:C:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26454486:G:T 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 1,.,. recessive HG002 HG002 chr17:26454541:G:T 2,.,. -1 -1 -1 -1 -1 -1 106,.,. 1,.,. recessive HG002 HG002 chr17:26454551:C:A 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 0.990476,.,. recessive HG002 HG002 chr17:26454621:A:C 2,.,. -1 -1 -1 -1 -1 -1 105,.,. 0.980952,.,. recessive HG002 HG002 chr17:26454949:A:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:26454967:C:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:26454970:C:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:26455028:A:T 2,.,. -1 -1 -1 -1 -1 -1 112,.,. 1,.,. recessive HG002 HG002 chr17:26455091:A:T 2,.,. -1 -1 -1 -1 -1 -1 103,.,. 1,.,. recessive HG002 HG002 chr17:26455186:G:T 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:26455199:G:T 2,.,. -1 -1 -1 -1 -1 -1 109,.,. 1,.,. recessive HG002 HG002 chr17:26455219:G:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:26455259:G:T 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26455281:T:A 2,.,. -1 -1 -1 -1 -1 -1 111,.,. 1,.,. recessive HG002 HG002 chr17:26455335:T:A 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:26455354:C:T 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:26455372:C:G 2,.,. -1 -1 -1 -1 -1 -1 108,.,. 1,.,. recessive HG002 HG002 chr17:26455379:G:C 2,.,. -1 -1 -1 -1 -1 -1 110,.,. 1,.,. recessive HG002 HG002 chr17:26455397:G:A 2,.,. -1 -1 -1 -1 -1 -1 131,.,. 1,.,. recessive HG002 HG002 chr17:26455399:A:C 2,.,. -1 -1 -1 -1 -1 -1 131,.,. 1,.,. recessive HG002 HG002 chr17:26455435:C:A 2,.,. -1 -1 -1 -1 -1 -1 130,.,. 1,.,. recessive HG002 HG002 chr17:26455443:G:A 2,.,. -1 -1 -1 -1 -1 -1 122,.,. 1,.,. recessive HG002 HG002 chr17:26455656:T:C 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr17:26455657:G:A 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr17:26455666:C:A 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr17:26455674:T:G 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr17:26455675:C:A 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr17:26455681:G:C 2,.,. -1 -1 -1 -1 -1 -1 132,.,. 1,.,. recessive HG002 HG002 chr17:26455687:C:G 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr17:26455699:C:T 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr17:26455707:T:C 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr17:26455708:G:T 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr17:26455719:T:A 2,.,. -1 -1 -1 -1 -1 -1 127,.,. 1,.,. recessive HG002 HG002 chr17:26455766:C:G 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr17:26455789:G:A 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 1,.,. recessive HG002 HG002 chr17:26455799:C:A 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:26455849:C:A 2,.,. -1 -1 -1 -1 -1 -1 130,.,. 1,.,. recessive HG002 HG002 chr17:26455850:C:T 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:26455855:A:T 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:26455869:G:T 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 0.992701,.,. recessive HG002 HG002 chr17:26455888:G:A 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 0.992701,.,. recessive HG002 HG002 chr17:26455921:A:G 2,.,. -1 -1 -1 -1 -1 -1 135,.,. 1,.,. recessive HG002 HG002 chr17:26456320:G:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:26456331:A:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26456341:C:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:26456363:A:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26456379:G:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.987342,.,. recessive HG002 HG002 chr17:26456391:G:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:26456396:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:26456401:G:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.981132,.,. recessive HG002 HG002 chr17:26456458:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:26456475:T:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:26456486:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26456492:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:26456506:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:26456516:C:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:26456549:A:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:26456565:C:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:26456583:C:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:26456584:G:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26456635:T:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:26456642:T:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:26456659:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:26456674:C:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.987342,.,. recessive HG002 HG002 chr17:26456689:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:26456700:C:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:26456713:C:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.987342,.,. recessive HG002 HG002 chr17:26456727:T:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:26456750:G:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:26456757:G:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:26456759:A:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:26456771:A:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:26456990:T:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26457009:G:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.993631,.,. recessive HG002 HG002 chr17:26457021:G:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26457047:G:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:26457053:T:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:26457093:C:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:26457115:A:T 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 0.992248,.,. recessive HG002 HG002 chr17:26457140:G:C 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:26457182:C:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:26457202:G:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:26457257:G:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:26457267:C:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:26457368:A:G 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:26457376:A:C 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.980892,.,. recessive HG002 HG002 chr17:26457666:A:T 2,.,. -1 -1 -1 -1 -1 -1 178,.,. 1,.,. recessive HG002 HG002 chr17:26457684:C:T 2,.,. -1 -1 -1 -1 -1 -1 178,.,. 1,.,. recessive HG002 HG002 chr17:26457687:C:T 2,.,. -1 -1 -1 -1 -1 -1 177,.,. 0.988701,.,. recessive HG002 HG002 chr17:26457714:C:T 2,.,. -1 -1 -1 -1 -1 -1 178,.,. 1,.,. recessive HG002 HG002 chr17:26457745:A:T 2,.,. -1 -1 -1 -1 -1 -1 177,.,. 1,.,. recessive HG002 HG002 chr17:26457756:G:C 2,.,. -1 -1 -1 -1 -1 -1 177,.,. 0.983051,.,. recessive HG002 HG002 chr17:26457771:A:T 2,.,. -1 -1 -1 -1 -1 -1 175,.,. 1,.,. recessive HG002 HG002 chr17:26457902:G:T 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 0.993976,.,. recessive HG002 HG002 chr17:26457915:G:T 2,.,. -1 -1 -1 -1 -1 -1 164,.,. 1,.,. recessive HG002 HG002 chr17:26457935:G:T 2,.,. -1 -1 -1 -1 -1 -1 163,.,. 1,.,. recessive HG002 HG002 chr17:26457997:T:A 2,.,. -1 -1 -1 -1 -1 -1 177,.,. 1,.,. recessive HG002 HG002 chr17:26458088:C:G 2,.,. -1 -1 -1 -1 -1 -1 175,.,. 1,.,. recessive HG002 HG002 chr17:26458115:G:C 2,.,. -1 -1 -1 -1 -1 -1 182,.,. 1,.,. recessive HG002 HG002 chr17:26458151:C:A 2,.,. -1 -1 -1 -1 -1 -1 180,.,. 1,.,. recessive HG002 HG002 chr17:26458373:G:A 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 1,.,. recessive HG002 HG002 chr17:26458390:T:G 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 1,.,. recessive HG002 HG002 chr17:26458391:C:A 2,.,. -1 -1 -1 -1 -1 -1 180,.,. 1,.,. recessive HG002 HG002 chr17:26458397:G:C 2,.,. -1 -1 -1 -1 -1 -1 179,.,. 1,.,. recessive HG002 HG002 chr17:26458403:C:G 2,.,. -1 -1 -1 -1 -1 -1 180,.,. 1,.,. recessive HG002 HG002 chr17:26458415:C:T 2,.,. -1 -1 -1 -1 -1 -1 172,.,. 1,.,. recessive HG002 HG002 chr17:26458436:G:A 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 1,.,. recessive HG002 HG002 chr17:26458464:C:G 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 1,.,. recessive HG002 HG002 chr17:26458482:C:G 2,.,. -1 -1 -1 -1 -1 -1 179,.,. 1,.,. recessive HG002 HG002 chr17:26458490:G:C 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 1,.,. recessive HG002 HG002 chr17:26458505:G:A 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 1,.,. recessive HG002 HG002 chr17:26458515:C:A 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 1,.,. recessive HG002 HG002 chr17:26458531:C:T 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 1,.,. recessive HG002 HG002 chr17:26458565:C:A 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 1,.,. recessive HG002 HG002 chr17:26458566:C:T 2,.,. -1 -1 -1 -1 -1 -1 180,.,. 1,.,. recessive HG002 HG002 chr17:26458585:G:T 2,.,. -1 -1 -1 -1 -1 -1 180,.,. 1,.,. recessive HG002 HG002 chr17:26458623:G:T 2,.,. -1 -1 -1 -1 -1 -1 99,.,. 1,.,. recessive HG002 HG002 chr17:26458770:C:T 2,.,. -1 -1 -1 0.00280308 4 8 103,.,. 1,.,. recessive HG002 HG002 chr17:26458789:C:A 2,.,. -1 -1 -1 -1 -1 -1 104,.,. 1,.,. recessive HG002 HG002 chr17:26459036:G:T 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 1,.,. recessive HG002 HG002 chr17:26459057:C:A 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 1,.,. recessive HG002 HG002 chr17:26459079:A:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26459095:G:T 2,.,. -1 -1 -1 -1 -1 -1 163,.,. 1,.,. recessive HG002 HG002 chr17:26459107:G:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:26459112:G:A 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 0.993976,.,. recessive HG002 HG002 chr17:26459117:G:C 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 1,.,. recessive HG002 HG002 chr17:26459157:T:A 2,.,. -1 -1 -1 -1 -1 -1 162,.,. 1,.,. recessive HG002 HG002 chr17:26459168:G:T 2,.,. -1 -1 -1 -1 -1 -1 161,.,. 1,.,. recessive HG002 HG002 chr17:26459174:T:C 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 1,.,. recessive HG002 HG002 chr17:26459176:G:T 2,.,. -1 -1 -1 -1 -1 -1 162,.,. 0.993827,.,. recessive HG002 HG002 chr17:26459191:T:A 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 1,.,. recessive HG002 HG002 chr17:26459202:G:A 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 1,.,. recessive HG002 HG002 chr17:26459208:T:C 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 1,.,. recessive HG002 HG002 chr17:26459211:G:T 2,.,. -1 -1 -1 -1 -1 -1 162,.,. 1,.,. recessive HG002 HG002 chr17:26459222:T:C 2,.,. -1 -1 -1 -1 -1 -1 164,.,. 1,.,. recessive HG002 HG002 chr17:26459232:C:A 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 1,.,. recessive HG002 HG002 chr17:26459263:C:T 2,.,. -1 -1 -1 -1 -1 -1 161,.,. 0.993789,.,. recessive HG002 HG002 chr17:26459265:A:T 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 1,.,. recessive HG002 HG002 chr17:26459281:C:G 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 0.993976,.,. recessive HG002 HG002 chr17:26459299:C:T 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 0.993939,.,. recessive HG002 HG002 chr17:26459300:G:A 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 1,.,. recessive HG002 HG002 chr17:26459307:G:C 2,.,. -1 -1 -1 -1 -1 -1 162,.,. 0.993827,.,. recessive HG002 HG002 chr17:26459342:A:T 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 1,.,. recessive HG002 HG002 chr17:26459346:C:A 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 1,.,. recessive HG002 HG002 chr17:26459351:T:A 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 1,.,. recessive HG002 HG002 chr17:26459358:G:C 2,.,. -1 -1 -1 -1 -1 -1 164,.,. 1,.,. recessive HG002 HG002 chr17:26459375:G:A 2,.,. -1 -1 -1 -1 -1 -1 164,.,. 1,.,. recessive HG002 HG002 chr17:26459390:C:T 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 1,.,. recessive HG002 HG002 chr17:26459405:G:A 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 1,.,. recessive HG002 HG002 chr17:26459416:C:T 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 1,.,. recessive HG002 HG002 chr17:26459429:C:A 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 1,.,. recessive HG002 HG002 chr17:26459443:T:A 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 0.987952,.,. recessive HG002 HG002 chr17:26459454:G:A 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 1,.,. recessive HG002 HG002 chr17:26459466:G:T 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 1,.,. recessive HG002 HG002 chr17:26459473:G:T 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 1,.,. recessive HG002 HG002 chr17:26459475:A:G 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 1,.,. recessive HG002 HG002 chr17:26459487:A:G 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 1,.,. recessive HG002 HG002 chr17:26459490:T:C 2,.,. -1 -1 -1 -1 -1 -1 162,.,. 0.993827,.,. recessive HG002 HG002 chr17:26459508:C:T 2,.,. -1 -1 -1 -1 -1 -1 161,.,. 1,.,. recessive HG002 HG002 chr17:26459706:T:A 2,.,. -1 -1 -1 -1 -1 -1 167,.,. 0.994012,.,. recessive HG002 HG002 chr17:26459725:G:T 2,.,. -1 -1 -1 -1 -1 -1 167,.,. 0.988024,.,. recessive HG002 HG002 chr17:26459754:G:A 2,.,. -1 -1 -1 -1 -1 -1 167,.,. 0.994012,.,. recessive HG002 HG002 chr17:26459763:G:T 2,.,. -1 -1 -1 -1 -1 -1 167,.,. 0.988024,.,. recessive HG002 HG002 chr17:26459769:T:G 2,.,. -1 -1 -1 -1 -1 -1 168,.,. 0.988095,.,. recessive HG002 HG002 chr17:26459809:C:G 2,.,. -1 -1 -1 -1 -1 -1 168,.,. 0.988095,.,. recessive HG002 HG002 chr17:26459810:G:A 2,.,. -1 -1 -1 -1 -1 -1 168,.,. 1,.,. recessive HG002 HG002 chr17:26459838:A:G 2,.,. -1 -1 -1 -1 -1 -1 168,.,. 1,.,. recessive HG002 HG002 chr17:26459898:C:T 2,.,. -1 -1 -1 0.00140154 2 4 167,.,. 0.994012,.,. recessive HG002 HG002 chr17:26459918:G:T 2,.,. -1 -1 -1 0.00140154 2 4 167,.,. 0.994012,.,. recessive HG002 HG002 chr17:26459948:T:A 2,.,. -1 -1 -1 -1 -1 -1 167,.,. 1,.,. recessive HG002 HG002 chr17:26459973:G:T 2,.,. -1 -1 -1 -1 -1 -1 168,.,. 0.994048,.,. recessive HG002 HG002 chr17:26459979:A:T 2,.,. -1 -1 -1 -1 -1 -1 168,.,. 0.988095,.,. recessive HG002 HG002 chr17:26459983:C:G 2,.,. -1 -1 -1 -1 -1 -1 166,.,. 0.993976,.,. recessive HG002 HG002 chr17:26459986:T:C 2,.,. -1 -1 -1 -1 -1 -1 164,.,. 0.981707,.,. recessive HG002 HG002 chr17:26460083:G:A 2,.,. -1 -1 -1 0.00140154 2 4 170,.,. 0.982353,.,. recessive HG002 HG002 chr17:26460332:T:G 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 0.994083,.,. recessive HG002 HG002 chr17:26460381:A:T 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 1,.,. recessive HG002 HG002 chr17:26460399:C:T 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 1,.,. recessive HG002 HG002 chr17:26460402:C:T 2,.,. -1 -1 -1 -1 -1 -1 168,.,. 0.994048,.,. recessive HG002 HG002 chr17:26460444:C:A 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 1,.,. recessive HG002 HG002 chr17:26460460:A:T 2,.,. -1 -1 -1 -1 -1 -1 167,.,. 1,.,. recessive HG002 HG002 chr17:26460464:C:G 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 1,.,. recessive HG002 HG002 chr17:26460477:A:G 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 1,.,. recessive HG002 HG002 chr17:26460498:C:A 2,.,. -1 -1 -1 -1 -1 -1 165,.,. 1,.,. recessive HG002 HG002 chr17:26460514:A:C 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 0.982249,.,. recessive HG002 HG002 chr17:26460558:A:T 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 0.988166,.,. recessive HG002 HG002 chr17:26460617:G:T 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 1,.,. recessive HG002 HG002 chr17:26460630:G:T 2,.,. -1 -1 -1 -1 -1 -1 152,.,. 1,.,. recessive HG002 HG002 chr17:26460650:G:T 2,.,. -1 -1 -1 -1 -1 -1 150,.,. 1,.,. recessive HG002 HG002 chr17:26460712:T:A 2,.,. -1 -1 -1 -1 -1 -1 168,.,. 1,.,. recessive HG002 HG002 chr17:26460740:C:A 2,.,. -1 -1 -1 -1 -1 -1 161,.,. 1,.,. recessive HG002 HG002 chr17:26460766:T:A 2,.,. -1 -1 -1 -1 -1 -1 167,.,. 1,.,. recessive HG002 HG002 chr17:26460782:A:C 2,.,. -1 -1 -1 -1 -1 -1 130,.,. 1,.,. recessive HG002 HG002 chr17:26460785:C:T 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr17:26460803:C:G 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 1,.,. recessive HG002 HG002 chr17:26460866:C:A 2,.,. -1 -1 -1 -1 -1 -1 130,.,. 1,.,. recessive HG002 HG002 chr17:26460931:A:T 2,.,. -1 -1 -1 -1 -1 -1 132,.,. 1,.,. recessive HG002 HG002 chr17:26460950:C:G 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 1,.,. recessive HG002 HG002 chr17:26461229:C:A 2,.,. -1 -1 -1 -1 -1 -1 172,.,. 0.994186,.,. recessive HG002 HG002 chr17:26461280:C:T 2,.,. -1 -1 -1 -1 -1 -1 172,.,. 0.994186,.,. recessive HG002 HG002 chr17:26461299:G:T 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 0.992647,.,. recessive HG002 HG002 chr17:26461307:T:A 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 0.992647,.,. recessive HG002 HG002 chr17:26461337:G:T 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 0.992647,.,. recessive HG002 HG002 chr17:26461355:G:T 2,.,. -1 -1 -1 -1 -1 -1 135,.,. 0.985185,.,. recessive HG002 HG002 chr17:26461358:T:G 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 0.992647,.,. recessive HG002 HG002 chr17:26461750:G:T 2,.,. -1 -1 -1 0.00140154 2 4 219,.,. 1,.,. recessive HG002 HG002 chr17:26461761:A:T 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26461771:C:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26461775:A:C 2,.,. -1 -1 -1 -1 -1 -1 217,.,. 1,.,. recessive HG002 HG002 chr17:26461809:G:T 2,.,. -1 -1 -1 -1 -1 -1 217,.,. 0.995392,.,. recessive HG002 HG002 chr17:26461821:G:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26461826:G:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26461828:A:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:26461831:G:C 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26461842:G:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:26461864:A:T 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:26461869:A:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 1,.,. recessive HG002 HG002 chr17:26461871:T:A 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26461882:G:T 2,.,. -1 -1 -1 -1 -1 -1 220,.,. 1,.,. recessive HG002 HG002 chr17:26461888:T:C 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26461890:G:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26461905:T:A 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26461916:G:A 2,.,. -1 -1 -1 -1 -1 -1 220,.,. 1,.,. recessive HG002 HG002 chr17:26461922:T:C 2,.,. -1 -1 -1 -1 -1 -1 220,.,. 0.995455,.,. recessive HG002 HG002 chr17:26461932:T:A 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 0.99095,.,. recessive HG002 HG002 chr17:26461936:T:C 2,.,. -1 -1 -1 -1 -1 -1 220,.,. 0.990909,.,. recessive HG002 HG002 chr17:26461946:C:A 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 0.986425,.,. recessive HG002 HG002 chr17:26461977:C:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26461979:A:T 2,.,. -1 -1 -1 -1 -1 -1 217,.,. 1,.,. recessive HG002 HG002 chr17:26461995:C:G 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26461997:A:G 2,.,. -1 -1 -1 -1 -1 -1 220,.,. 0.990909,.,. recessive HG002 HG002 chr17:26462013:C:T 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 0.986425,.,. recessive HG002 HG002 chr17:26462014:G:A 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462021:G:C 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.986301,.,. recessive HG002 HG002 chr17:26462029:T:A 2,.,. -1 -1 -1 -1 -1 -1 220,.,. 1,.,. recessive HG002 HG002 chr17:26462032:T:A 2,.,. -1 -1 -1 -1 -1 -1 216,.,. 1,.,. recessive HG002 HG002 chr17:26462045:A:C 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 0.986425,.,. recessive HG002 HG002 chr17:26462048:A:G 2,.,. -1 -1 -1 -1 -1 -1 220,.,. 0.986364,.,. recessive HG002 HG002 chr17:26462060:C:A 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462065:T:A 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462070:G:A 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 0.986425,.,. recessive HG002 HG002 chr17:26462072:T:C 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26462089:G:A 2,.,. -1 -1 -1 0.00210231 3 6 220,.,. 1,.,. recessive HG002 HG002 chr17:26462104:C:T 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462119:G:A 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462130:C:T 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462143:C:A 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462145:C:T 2,.,. -1 -1 -1 -1 -1 -1 202,.,. 0.985148,.,. recessive HG002 HG002 chr17:26462157:T:A 2,.,. -1 -1 -1 -1 -1 -1 220,.,. 0.990909,.,. recessive HG002 HG002 chr17:26462164:C:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.986301,.,. recessive HG002 HG002 chr17:26462168:G:A 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 0.9819,.,. recessive HG002 HG002 chr17:26462170:C:T 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr17:26462180:G:T 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462187:G:T 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462189:A:G 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462192:C:G 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 0.986239,.,. recessive HG002 HG002 chr17:26462194:T:G 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 0.986425,.,. recessive HG002 HG002 chr17:26462201:A:G 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 0.986425,.,. recessive HG002 HG002 chr17:26462203:A:C 2,.,. -1 -1 -1 -1 -1 -1 220,.,. 0.986364,.,. recessive HG002 HG002 chr17:26462207:C:T 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 0.986239,.,. recessive HG002 HG002 chr17:26462216:C:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.986301,.,. recessive HG002 HG002 chr17:26462222:C:T 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26462241:T:G 2,.,. -1 -1 -1 -1 -1 -1 217,.,. 1,.,. recessive HG002 HG002 chr17:26462243:C:G 2,.,. -1 -1 -1 -1 -1 -1 202,.,. 0.985148,.,. recessive HG002 HG002 chr17:26462251:G:T 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462260:T:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26462274:T:A 2,.,. -1 -1 -1 -1 -1 -1 217,.,. 1,.,. recessive HG002 HG002 chr17:26462288:C:A 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462313:T:A 2,.,. -1 -1 -1 -1 -1 -1 220,.,. 1,.,. recessive HG002 HG002 chr17:26462314:T:G 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462317:C:G 2,.,. -1 -1 -1 -1 -1 -1 220,.,. 1,.,. recessive HG002 HG002 chr17:26462318:G:T 2,.,. -1 -1 -1 -1 -1 -1 210,.,. 0.995238,.,. recessive HG002 HG002 chr17:26462321:T:C 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.984925,.,. recessive HG002 HG002 chr17:26462337:C:T 2,.,. -1 -1 -1 -1 -1 -1 220,.,. 0.986364,.,. recessive HG002 HG002 chr17:26462340:G:A 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462345:A:G 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462367:C:T 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462370:T:A 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462372:T:G 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26462390:T:A 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462405:C:A 2,.,. -1 -1 -1 -1 -1 -1 221,.,. 1,.,. recessive HG002 HG002 chr17:26462407:T:G 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26462420:T:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26462439:G:T 2,.,. -1 -1 -1 -1 -1 -1 220,.,. 1,.,. recessive HG002 HG002 chr17:26462451:G:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26462477:G:T 2,.,. -1 -1 -1 -1 -1 -1 224,.,. 1,.,. recessive HG002 HG002 chr17:26462483:T:G 2,.,. -1 -1 -1 -1 -1 -1 224,.,. 1,.,. recessive HG002 HG002 chr17:26462505:C:T 2,.,. -1 -1 -1 -1 -1 -1 220,.,. 0.995455,.,. recessive HG002 HG002 chr17:26462523:C:G 2,.,. -1 -1 -1 -1 -1 -1 223,.,. 1,.,. recessive HG002 HG002 chr17:26462545:A:C 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 1,.,. recessive HG002 HG002 chr17:26462570:G:C 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.990868,.,. recessive HG002 HG002 chr17:26462571:C:G 2,.,. -1 -1 -1 -1 -1 -1 197,.,. 1,.,. recessive HG002 HG002 chr17:26462573:G:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26462612:C:T 2,.,. -1 -1 -1 -1 -1 -1 222,.,. 0.990991,.,. recessive HG002 HG002 chr17:26462632:G:T 2,.,. -1 -1 -1 -1 -1 -1 222,.,. 1,.,. recessive HG002 HG002 chr17:26462664:A:T 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.995,.,. recessive HG002 HG002 chr17:26462671:T:G 2,.,. -1 -1 -1 -1 -1 -1 200,.,. 0.99,.,. recessive HG002 HG002 chr17:26462687:G:T 2,.,. -1 -1 -1 -1 -1 -1 222,.,. 0.995495,.,. recessive HG002 HG002 chr17:26462692:C:A 2,.,. -1 -1 -1 -1 -1 -1 222,.,. 1,.,. recessive HG002 HG002 chr17:26462697:C:G 2,.,. -1 -1 -1 -1 -1 -1 222,.,. 1,.,. recessive HG002 HG002 chr17:26462700:T:C 2,.,. -1 -1 -1 -1 -1 -1 222,.,. 1,.,. recessive HG002 HG002 chr17:26462714:C:T 2,.,. -1 -1 -1 -1 -1 -1 223,.,. 0.986547,.,. recessive HG002 HG002 chr17:26463096:A:T 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463109:G:C 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.985849,.,. recessive HG002 HG002 chr17:26463114:C:T 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463117:C:T 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463124:T:C 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:26463149:TG:T 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:26463164:C:T 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:26463175:A:T 2,.,. -1 -1 -1 -1 -1 -1 234,.,. 1,.,. recessive HG002 HG002 chr17:26463260:A:C 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 1,.,. recessive HG002 HG002 chr17:26463271:A:C 2,.,. -1 -1 -1 -1 -1 -1 209,.,. 0.995215,.,. recessive HG002 HG002 chr17:26463274:A:T 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 1,.,. recessive HG002 HG002 chr17:26463285:A:T 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 1,.,. recessive HG002 HG002 chr17:26463296:G:C 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:26463305:C:T 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 1,.,. recessive HG002 HG002 chr17:26463311:A:C 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:26463322:C:T 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:26463325:A:T 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 1,.,. recessive HG002 HG002 chr17:26463326:G:T 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 1,.,. recessive HG002 HG002 chr17:26463330:T:G 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 0.982379,.,. recessive HG002 HG002 chr17:26463333:G:T 2,.,. -1 -1 -1 -1 -1 -1 224,.,. 0.991071,.,. recessive HG002 HG002 chr17:26463339:T:A 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 1,.,. recessive HG002 HG002 chr17:26463346:G:T 2,.,. -1 -1 -1 -1 -1 -1 179,.,. 1,.,. recessive HG002 HG002 chr17:26463366:G:T 2,.,. -1 -1 -1 -1 -1 -1 180,.,. 0.988889,.,. recessive HG002 HG002 chr17:26463389:T:C 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 1,.,. recessive HG002 HG002 chr17:26463406:G:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:26463419:G:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:26463428:T:A 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463456:C:A 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 1,.,. recessive HG002 HG002 chr17:26463498:A:C 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463501:C:T 2,.,. -1 -1 -1 -1 -1 -1 223,.,. 1,.,. recessive HG002 HG002 chr17:26463519:C:G 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463545:G:C 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463546:G:C 2,.,. -1 -1 -1 -1 -1 -1 235,.,. 1,.,. recessive HG002 HG002 chr17:26463547:G:T 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 1,.,. recessive HG002 HG002 chr17:26463556:T:A 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 1,.,. recessive HG002 HG002 chr17:26463559:G:T 2,.,. -1 -1 -1 -1 -1 -1 234,.,. 1,.,. recessive HG002 HG002 chr17:26463560:T:C 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 0.991525,.,. recessive HG002 HG002 chr17:26463562:G:T 2,.,. -1 -1 -1 -1 -1 -1 235,.,. 0.991489,.,. recessive HG002 HG002 chr17:26463569:A:C 2,.,. -1 -1 -1 -1 -1 -1 233,.,. 1,.,. recessive HG002 HG002 chr17:26463582:C:A 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463596:T:C 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463606:G:C 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463621:C:G 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463652:G:C 2,.,. -1 -1 -1 -1 -1 -1 229,.,. 1,.,. recessive HG002 HG002 chr17:26463653:G:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26463666:C:G 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463675:C:T 2,.,. -1 -1 -1 -1 -1 -1 235,.,. 1,.,. recessive HG002 HG002 chr17:26463676:C:G 2,.,. -1 -1 -1 -1 -1 -1 235,.,. 1,.,. recessive HG002 HG002 chr17:26463745:G:A 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 1,.,. recessive HG002 HG002 chr17:26463746:A:T 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 1,.,. recessive HG002 HG002 chr17:26463756:G:T 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463765:A:G 2,.,. -1 -1 -1 -1 -1 -1 224,.,. 1,.,. recessive HG002 HG002 chr17:26463803:G:A 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463820:T:G 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463821:C:A 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 0.995763,.,. recessive HG002 HG002 chr17:26463824:G:A 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 1,.,. recessive HG002 HG002 chr17:26463827:G:C 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463833:C:G 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463840:T:C 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 0.987288,.,. recessive HG002 HG002 chr17:26463842:C:G 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463845:C:T 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 1,.,. recessive HG002 HG002 chr17:26463860:C:T 2,.,. -1 -1 -1 -1 -1 -1 229,.,. 1,.,. recessive HG002 HG002 chr17:26463865:T:C 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:26463866:G:A 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463894:C:G 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463912:C:G 2,.,. -1 -1 -1 -1 -1 -1 233,.,. 1,.,. recessive HG002 HG002 chr17:26463920:G:C 2,.,. -1 -1 -1 -1 -1 -1 235,.,. 1,.,. recessive HG002 HG002 chr17:26463921:G:T 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr17:26463935:G:A 2,.,. -1 -1 -1 -1 -1 -1 237,.,. 1,.,. recessive HG002 HG002 chr17:26463938:G:C 2,.,. -1 -1 -1 -1 -1 -1 228,.,. 1,.,. recessive HG002 HG002 chr17:26463945:C:A 2,.,. -1 -1 -1 -1 -1 -1 237,.,. 1,.,. recessive HG002 HG002 chr17:26463961:C:T 2,.,. -1 -1 -1 -1 -1 -1 237,.,. 1,.,. recessive HG002 HG002 chr17:26463996:C:T 2,.,. -1 -1 -1 -1 -1 -1 237,.,. 1,.,. recessive HG002 HG002 chr17:26464014:T:C 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.995305,.,. recessive HG002 HG002 chr17:26464015:G:T 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 1,.,. recessive HG002 HG002 chr17:26464023:T:A 2,.,. -1 -1 -1 -1 -1 -1 228,.,. 1,.,. recessive HG002 HG002 chr17:26464034:G:A 2,.,. -1 -1 -1 -1 -1 -1 230,.,. 1,.,. recessive HG002 HG002 chr17:26464053:G:T 2,.,. -1 -1 -1 -1 -1 -1 230,.,. 1,.,. recessive HG002 HG002 chr17:26464071:G:T 2,.,. -1 -1 -1 -1 -1 -1 228,.,. 0.986842,.,. recessive HG002 HG002 chr17:26464085:G:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:26464097:A:C 2,.,. -1 -1 -1 -1 -1 -1 229,.,. 1,.,. recessive HG002 HG002 chr17:26464258:C:T 2,.,. -1 -1 -1 -1 -1 -1 242,.,. 0.987603,.,. recessive HG002 HG002 chr17:26464466:G:T 2,.,. -1 -1 -1 -1 -1 -1 252,.,. 1,.,. recessive HG002 HG002 chr17:26464487:C:A 2,.,. -1 -1 -1 -1 -1 -1 251,.,. 1,.,. recessive HG002 HG002 chr17:26464491:A:C 2,.,. -1 -1 -1 -1 -1 -1 250,.,. 0.992,.,. recessive HG002 HG002 chr17:26464525:G:T 2,.,. -1 -1 -1 -1 -1 -1 250,.,. 1,.,. recessive HG002 HG002 chr17:26464537:G:T 2,.,. -1 -1 -1 -1 -1 -1 251,.,. 1,.,. recessive HG002 HG002 chr17:26464542:G:A 2,.,. -1 -1 -1 -1 -1 -1 251,.,. 0.992032,.,. recessive HG002 HG002 chr17:26464547:G:C 2,.,. -1 -1 -1 -1 -1 -1 251,.,. 1,.,. recessive HG002 HG002 chr17:26464558:G:T 2,.,. -1 -1 -1 -1 -1 -1 231,.,. 1,.,. recessive HG002 HG002 chr17:26464577:T:C 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 0.991935,.,. recessive HG002 HG002 chr17:26464580:A:T 2,.,. -1 -1 -1 -1 -1 -1 225,.,. 1,.,. recessive HG002 HG002 chr17:26464585:A:C 2,.,. -1 -1 -1 -1 -1 -1 223,.,. 1,.,. recessive HG002 HG002 chr17:26464587:T:A 2,.,. -1 -1 -1 -1 -1 -1 244,.,. 1,.,. recessive HG002 HG002 chr17:26464598:G:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26464604:T:C 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26464606:G:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26464621:T:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26464632:G:A 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 0.99187,.,. recessive HG002 HG002 chr17:26464636:C:T 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 0.995951,.,. recessive HG002 HG002 chr17:26464638:T:C 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26464648:T:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 0.991935,.,. recessive HG002 HG002 chr17:26464652:T:C 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 0.991935,.,. recessive HG002 HG002 chr17:26464662:C:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 0.991935,.,. recessive HG002 HG002 chr17:26464674:T:C 2,.,. -1 -1 -1 -1 -1 -1 228,.,. 1,.,. recessive HG002 HG002 chr17:26464693:C:T 2,.,. -1 -1 -1 -1 -1 -1 245,.,. 1,.,. recessive HG002 HG002 chr17:26464695:A:T 2,.,. -1 -1 -1 -1 -1 -1 243,.,. 1,.,. recessive HG002 HG002 chr17:26464711:C:G 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26464713:A:G 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 0.99187,.,. recessive HG002 HG002 chr17:26464729:C:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 0.983871,.,. recessive HG002 HG002 chr17:26464730:G:A 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 1,.,. recessive HG002 HG002 chr17:26464737:G:C 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 0.991903,.,. recessive HG002 HG002 chr17:26464745:T:A 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26464748:T:A 2,.,. -1 -1 -1 -1 -1 -1 241,.,. 0.995851,.,. recessive HG002 HG002 chr17:26464761:A:C 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 0.98374,.,. recessive HG002 HG002 chr17:26464764:A:G 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 0.987854,.,. recessive HG002 HG002 chr17:26464776:C:A 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26464781:T:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26464786:G:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 0.991935,.,. recessive HG002 HG002 chr17:26464788:T:C 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 1,.,. recessive HG002 HG002 chr17:26464805:G:A 2,.,. -1 -1 -1 0.00210231 3 6 247,.,. 1,.,. recessive HG002 HG002 chr17:26464820:C:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26464835:G:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26464846:C:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26464859:C:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26464861:C:T 2,.,. -1 -1 -1 -1 -1 -1 228,.,. 0.991228,.,. recessive HG002 HG002 chr17:26464873:T:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26464880:C:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 0.991935,.,. recessive HG002 HG002 chr17:26464884:G:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 0.987903,.,. recessive HG002 HG002 chr17:26464886:C:T 2,.,. -1 -1 -1 -1 -1 -1 225,.,. 1,.,. recessive HG002 HG002 chr17:26464896:G:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 0.995968,.,. recessive HG002 HG002 chr17:26464903:G:T 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26464905:A:G 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26464908:C:G 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 0.991935,.,. recessive HG002 HG002 chr17:26464910:T:G 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 0.995935,.,. recessive HG002 HG002 chr17:26464917:A:G 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 0.991903,.,. recessive HG002 HG002 chr17:26464919:A:C 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 0.987903,.,. recessive HG002 HG002 chr17:26464922:T:G 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 0.983806,.,. recessive HG002 HG002 chr17:26464923:C:T 2,.,. -1 -1 -1 -1 -1 -1 245,.,. 0.991837,.,. recessive HG002 HG002 chr17:26464932:C:A 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 0.983806,.,. recessive HG002 HG002 chr17:26464938:C:T 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 1,.,. recessive HG002 HG002 chr17:26464957:T:G 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 1,.,. recessive HG002 HG002 chr17:26464959:C:G 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 0.99115,.,. recessive HG002 HG002 chr17:26464967:G:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26464976:T:A 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 1,.,. recessive HG002 HG002 chr17:26464990:T:A 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 1,.,. recessive HG002 HG002 chr17:26465001:A:C 2,.,. -1 -1 -1 -1 -1 -1 229,.,. 0.995633,.,. recessive HG002 HG002 chr17:26465004:C:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26465006:C:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26465029:T:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26465030:T:G 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26465033:C:G 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 1,.,. recessive HG002 HG002 chr17:26465034:G:T 2,.,. -1 -1 -1 -1 -1 -1 239,.,. 0.991632,.,. recessive HG002 HG002 chr17:26465037:T:C 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 0.991189,.,. recessive HG002 HG002 chr17:26465053:C:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 0.991935,.,. recessive HG002 HG002 chr17:26465056:G:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26465061:A:G 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26465083:C:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26465086:T:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 0.995968,.,. recessive HG002 HG002 chr17:26465088:T:G 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26465106:T:A 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 1,.,. recessive HG002 HG002 chr17:26465121:C:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26465123:T:G 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26465136:T:A 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26465155:G:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26465167:G:T 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 0.995951,.,. recessive HG002 HG002 chr17:26465193:G:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26465199:T:G 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26465221:C:T 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 0.995951,.,. recessive HG002 HG002 chr17:26465239:C:G 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26465261:A:C 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 1,.,. recessive HG002 HG002 chr17:26465286:G:C 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 0.995935,.,. recessive HG002 HG002 chr17:26465287:C:G 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 0.986726,.,. recessive HG002 HG002 chr17:26465289:G:A 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 0.995935,.,. recessive HG002 HG002 chr17:26465328:C:T 2,.,. -1 -1 -1 0.00210231 3 6 248,.,. 0.991935,.,. recessive HG002 HG002 chr17:26465348:G:T 2,.,. -1 -1 -1 0.00280308 4 8 247,.,. 0.995951,.,. recessive HG002 HG002 chr17:26465380:A:T 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 0.995595,.,. recessive HG002 HG002 chr17:26465387:T:G 2,.,. -1 -1 -1 -1 -1 -1 225,.,. 0.991111,.,. recessive HG002 HG002 chr17:26465403:G:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26465409:A:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 0.983936,.,. recessive HG002 HG002 chr17:26465413:C:G 2,.,. -1 -1 -1 -1 -1 -1 244,.,. 1,.,. recessive HG002 HG002 chr17:26465416:T:C 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 0.991903,.,. recessive HG002 HG002 chr17:26465430:C:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 0.983936,.,. recessive HG002 HG002 chr17:26465739:C:G 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26465812:A:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26465825:G:C 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 0.986726,.,. recessive HG002 HG002 chr17:26465830:C:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26465833:C:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26465840:T:C 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 1,.,. recessive HG002 HG002 chr17:26465843:A:C 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26465860:C:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26465865:TG:T 2,.,. -1 -1 -1 -1 -1 -1 225,.,. 1,.,. recessive HG002 HG002 chr17:26465880:G:T 2,.,. -1 -1 -1 -1 -1 -1 225,.,. 0.995556,.,. recessive HG002 HG002 chr17:26465891:A:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26465917:G:T 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26465989:A:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26466000:A:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26466011:G:C 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 1,.,. recessive HG002 HG002 chr17:26466026:A:C 2,.,. -1 -1 -1 -1 -1 -1 225,.,. 1,.,. recessive HG002 HG002 chr17:26466037:C:T 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 1,.,. recessive HG002 HG002 chr17:26466040:A:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466041:G:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466045:T:G 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 0.995984,.,. recessive HG002 HG002 chr17:26466048:G:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 0.995968,.,. recessive HG002 HG002 chr17:26466054:T:A 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466081:G:T 2,.,. -1 -1 -1 -1 -1 -1 204,.,. 1,.,. recessive HG002 HG002 chr17:26466104:T:C 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26466121:G:A 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 1,.,. recessive HG002 HG002 chr17:26466143:T:A 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466171:C:A 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466197:T:A 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466213:A:C 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26466216:C:T 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 1,.,. recessive HG002 HG002 chr17:26466232:T:C 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466234:C:G 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466260:G:C 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466261:G:C 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466262:G:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466271:C:A 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466272:C:A 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 1,.,. recessive HG002 HG002 chr17:26466274:G:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466275:T:C 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466277:G:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466284:A:C 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26466297:C:A 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 0.995984,.,. recessive HG002 HG002 chr17:26466309:G:A 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 0.991189,.,. recessive HG002 HG002 chr17:26466311:T:C 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26466321:G:C 2,.,. -1 -1 -1 -1 -1 -1 245,.,. 1,.,. recessive HG002 HG002 chr17:26466330:A:T 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26466335:C:T 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 1,.,. recessive HG002 HG002 chr17:26466342:A:T 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26466344:A:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466356:A:C 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466367:G:C 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466381:C:G 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466387:T:G 2,.,. -1 -1 -1 -1 -1 -1 227,.,. 0.986784,.,. recessive HG002 HG002 chr17:26466390:C:T 2,.,. -1 -1 -1 -1 -1 -1 245,.,. 1,.,. recessive HG002 HG002 chr17:26466391:C:G 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 1,.,. recessive HG002 HG002 chr17:26466403:C:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466407:G:A 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466433:T:A 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 1,.,. recessive HG002 HG002 chr17:26466439:A:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466440:A:G 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466460:T:A 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26466461:A:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26466464:G:C 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466471:G:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26466480:A:G 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466513:T:A 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466517:T:C 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466518:G:A 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466527:C:A 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466535:T:G 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26466536:C:A 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 0.991903,.,. recessive HG002 HG002 chr17:26466542:G:C 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 1,.,. recessive HG002 HG002 chr17:26466548:C:G 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466555:T:C 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466560:C:T 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26466568:T:C 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26466575:C:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26466578:A:G 2,.,. -1 -1 -1 -1 -1 -1 247,.,. 1,.,. recessive HG002 HG002 chr17:26466580:T:C 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 1,.,. recessive HG002 HG002 chr17:26466581:G:A 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466609:C:G 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26466616:G:T 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 1,.,. recessive HG002 HG002 chr17:26466627:C:G 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26466635:G:C 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 1,.,. recessive HG002 HG002 chr17:26466636:G:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 0.995984,.,. recessive HG002 HG002 chr17:26466639:C:A 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 1,.,. recessive HG002 HG002 chr17:26466650:G:A 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466653:G:C 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466660:C:A 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466676:C:T 2,.,. -1 -1 -1 -1 -1 -1 246,.,. 1,.,. recessive HG002 HG002 chr17:26466688:C:T 2,.,. -1 -1 -1 -1 -1 -1 226,.,. 1,.,. recessive HG002 HG002 chr17:26466711:C:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466716:A:T 2,.,. -1 -1 -1 -1 -1 -1 248,.,. 1,.,. recessive HG002 HG002 chr17:26466729:T:C 2,.,. -1 -1 -1 -1 -1 -1 225,.,. 1,.,. recessive HG002 HG002 chr17:26466730:G:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466738:T:A 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466749:G:A 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466768:G:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466800:G:A 2,.,. -1 -1 -1 -1 -1 -1 225,.,. 0.995556,.,. recessive HG002 HG002 chr17:26466812:A:C 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 1,.,. recessive HG002 HG002 chr17:26466887:G:T 2,.,. -1 -1 -1 0.00280308 4 8 249,.,. 0.987952,.,. recessive HG002 HG002 chr17:26466973:C:T 2,.,. -1 -1 -1 -1 -1 -1 249,.,. 0.983936,.,. recessive HG002 HG002 chr17:26467181:G:T 2,.,. -1 -1 -1 -1 -1 -1 245,.,. 1,.,. recessive HG002 HG002 chr17:26467202:C:A 2,.,. -1 -1 -1 -1 -1 -1 240,.,. 1,.,. recessive HG002 HG002 chr17:26467206:A:C 2,.,. -1 -1 -1 -1 -1 -1 239,.,. 0.987448,.,. recessive HG002 HG002 chr17:26467240:G:T 2,.,. -1 -1 -1 -1 -1 -1 233,.,. 0.991416,.,. recessive HG002 HG002 chr17:26467252:G:T 2,.,. -1 -1 -1 -1 -1 -1 233,.,. 1,.,. recessive HG002 HG002 chr17:26467257:G:A 2,.,. -1 -1 -1 -1 -1 -1 235,.,. 0.987234,.,. recessive HG002 HG002 chr17:26467262:G:C 2,.,. -1 -1 -1 -1 -1 -1 235,.,. 1,.,. recessive HG002 HG002 chr17:26467273:G:T 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26467302:T:A 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26467313:G:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467319:T:C 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467321:G:T 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 0.995413,.,. recessive HG002 HG002 chr17:26467336:T:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467347:G:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467353:T:C 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467363:T:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.981735,.,. recessive HG002 HG002 chr17:26467367:T:C 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.986301,.,. recessive HG002 HG002 chr17:26467377:C:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.986301,.,. recessive HG002 HG002 chr17:26467408:C:T 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26467410:A:T 2,.,. -1 -1 -1 -1 -1 -1 216,.,. 1,.,. recessive HG002 HG002 chr17:26467426:C:G 2,.,. -1 -1 -1 -1 -1 -1 217,.,. 1,.,. recessive HG002 HG002 chr17:26467428:A:G 2,.,. -1 -1 -1 -1 -1 -1 216,.,. 0.986111,.,. recessive HG002 HG002 chr17:26467445:G:A 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26467452:G:C 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.981735,.,. recessive HG002 HG002 chr17:26467460:T:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467479:A:G 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 0.981651,.,. recessive HG002 HG002 chr17:26467491:C:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467496:T:A 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26467501:G:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.981735,.,. recessive HG002 HG002 chr17:26467503:T:C 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26467520:G:A 2,.,. -1 -1 -1 0.00280308 4 8 219,.,. 1,.,. recessive HG002 HG002 chr17:26467535:C:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467550:G:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467561:C:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467574:C:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467588:T:A 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26467595:C:T 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 0.985981,.,. recessive HG002 HG002 chr17:26467599:G:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.981735,.,. recessive HG002 HG002 chr17:26467601:C:T 2,.,. -1 -1 -1 -1 -1 -1 194,.,. 1,.,. recessive HG002 HG002 chr17:26467611:G:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.990868,.,. recessive HG002 HG002 chr17:26467618:G:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467620:A:G 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467623:C:G 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 0.986239,.,. recessive HG002 HG002 chr17:26467625:T:G 2,.,. -1 -1 -1 -1 -1 -1 216,.,. 0.990741,.,. recessive HG002 HG002 chr17:26467632:A:G 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.981735,.,. recessive HG002 HG002 chr17:26467634:A:C 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.981735,.,. recessive HG002 HG002 chr17:26467638:C:T 2,.,. -1 -1 -1 -1 -1 -1 217,.,. 0.981567,.,. recessive HG002 HG002 chr17:26467647:C:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.981735,.,. recessive HG002 HG002 chr17:26467653:C:T 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26467672:T:G 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26467682:G:T 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26467691:T:A 2,.,. -1 -1 -1 -1 -1 -1 217,.,. 1,.,. recessive HG002 HG002 chr17:26467705:T:A 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26467719:C:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467744:T:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467745:T:G 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467748:C:G 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26467749:G:T 2,.,. -1 -1 -1 -1 -1 -1 205,.,. 0.995122,.,. recessive HG002 HG002 chr17:26467768:C:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.981735,.,. recessive HG002 HG002 chr17:26467771:G:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467776:A:G 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467798:C:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467801:T:A 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26467821:T:A 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26467836:C:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467838:T:G 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467870:G:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467882:G:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467908:G:T 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26467914:T:G 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26467936:C:T 2,.,. -1 -1 -1 -1 -1 -1 216,.,. 1,.,. recessive HG002 HG002 chr17:26467954:C:G 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26467976:A:C 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 1,.,. recessive HG002 HG002 chr17:26468001:G:C 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 0.986239,.,. recessive HG002 HG002 chr17:26468002:C:G 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.989529,.,. recessive HG002 HG002 chr17:26468004:G:A 2,.,. -1 -1 -1 -1 -1 -1 216,.,. 1,.,. recessive HG002 HG002 chr17:26468063:G:T 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26468095:A:T 2,.,. -1 -1 -1 -1 -1 -1 195,.,. 0.994872,.,. recessive HG002 HG002 chr17:26468102:T:G 2,.,. -1 -1 -1 -1 -1 -1 194,.,. 0.994845,.,. recessive HG002 HG002 chr17:26468118:G:T 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 0.990826,.,. recessive HG002 HG002 chr17:26468128:C:A 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26468141:G:C 2,.,. -1 -1 -1 -1 -1 -1 194,.,. 1,.,. recessive HG002 HG002 chr17:26468144:C:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 0.981735,.,. recessive HG002 HG002 chr17:26468504:C:A 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 0.995413,.,. recessive HG002 HG002 chr17:26468514:G:A 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26468524:A:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26468537:G:C 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 0.989637,.,. recessive HG002 HG002 chr17:26468542:C:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26468545:C:T 2,.,. -1 -1 -1 -1 -1 -1 219,.,. 1,.,. recessive HG002 HG002 chr17:26468552:T:C 2,.,. -1 -1 -1 -1 -1 -1 194,.,. 1,.,. recessive HG002 HG002 chr17:26468603:A:T 2,.,. -1 -1 -1 -1 -1 -1 217,.,. 1,.,. recessive HG002 HG002 chr17:26468677:TA:T 2,.,. -1 -1 -1 -1 -1 -1 217,.,. 1,.,. recessive HG002 HG002 chr17:26468688:A:C 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26468699:A:C 2,.,. -1 -1 -1 -1 -1 -1 193,.,. 1,.,. recessive HG002 HG002 chr17:26468702:A:T 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26468713:A:T 2,.,. -1 -1 -1 -1 -1 -1 218,.,. 1,.,. recessive HG002 HG002 chr17:26468724:G:C 2,.,. -1 -1 -1 -1 -1 -1 194,.,. 1,.,. recessive HG002 HG002 chr17:26468733:C:T 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:26468739:A:C 2,.,. -1 -1 -1 -1 -1 -1 188,.,. 1,.,. recessive HG002 HG002 chr17:26468750:C:T 2,.,. -1 -1 -1 -1 -1 -1 190,.,. 1,.,. recessive HG002 HG002 chr17:26468753:A:T 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 1,.,. recessive HG002 HG002 chr17:26468754:G:T 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26468758:T:G 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:26468761:G:T 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26468767:T:A 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26468774:G:T 2,.,. -1 -1 -1 -1 -1 -1 168,.,. 1,.,. recessive HG002 HG002 chr17:26468794:G:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:26468817:T:C 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26468856:T:A 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26468884:C:A 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26468910:T:A 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 0.995327,.,. recessive HG002 HG002 chr17:26468926:A:C 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:26468929:G:T 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.99061,.,. recessive HG002 HG002 chr17:26468945:T:C 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 0.995327,.,. recessive HG002 HG002 chr17:26468947:C:G 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26468973:G:C 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26468974:G:C 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26468975:G:T 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26468984:C:A 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 0.995327,.,. recessive HG002 HG002 chr17:26468987:G:T 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:26468988:T:C 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26468990:G:T 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26468997:A:C 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469010:C:A 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469024:T:C 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469034:G:C 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:26469055:A:T 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 0.995327,.,. recessive HG002 HG002 chr17:26469069:A:C 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 0.995327,.,. recessive HG002 HG002 chr17:26469080:G:C 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:26469081:G:T 2,.,. -1 -1 -1 -1 -1 -1 211,.,. 1,.,. recessive HG002 HG002 chr17:26469094:C:G 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26469100:T:G 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.984293,.,. recessive HG002 HG002 chr17:26469103:C:T 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:26469104:C:G 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26469107:T:A 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:26469116:C:T 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 0.995283,.,. recessive HG002 HG002 chr17:26469120:G:A 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 0.995349,.,. recessive HG002 HG002 chr17:26469152:A:T 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 0.995349,.,. recessive HG002 HG002 chr17:26469171:GA:G 2,.,. -1 -1 -1 -1 -1 -1 190,.,. 0.984211,.,. recessive HG002 HG002 chr17:26469184:G:T 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 0.995349,.,. recessive HG002 HG002 chr17:26469191:A:G 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26469224:T:A 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 0.995349,.,. recessive HG002 HG002 chr17:26469228:T:C 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 0.995349,.,. recessive HG002 HG002 chr17:26469229:G:A 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469238:C:A 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 0.990654,.,. recessive HG002 HG002 chr17:26469246:T:G 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26469247:C:A 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:26469253:G:C 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26469259:C:G 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469266:T:C 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469271:C:T 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26469279:T:C 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469286:C:T 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469289:A:G 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 0.995349,.,. recessive HG002 HG002 chr17:26469291:T:C 2,.,. -1 -1 -1 -1 -1 -1 190,.,. 1,.,. recessive HG002 HG002 chr17:26469292:G:A 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469296:A:G 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26469320:C:G 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469327:G:T 2,.,. -1 -1 -1 -1 -1 -1 191,.,. 0.994764,.,. recessive HG002 HG002 chr17:26469338:C:G 2,.,. -1 -1 -1 -1 -1 -1 212,.,. 1,.,. recessive HG002 HG002 chr17:26469346:G:C 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469347:G:T 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469361:G:A 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469364:G:C 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26469371:C:A 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469375:A:T 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469387:C:T 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26469422:C:T 2,.,. -1 -1 -1 -1 -1 -1 215,.,. 1,.,. recessive HG002 HG002 chr17:26469427:A:T 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 0.995305,.,. recessive HG002 HG002 chr17:26469441:G:T 2,.,. -1 -1 -1 -1 -1 -1 213,.,. 1,.,. recessive HG002 HG002 chr17:26469449:T:A 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26469460:G:A 2,.,. -1 -1 -1 -1 -1 -1 216,.,. 0.99537,.,. recessive HG002 HG002 chr17:26469479:G:T 2,.,. -1 -1 -1 -1 -1 -1 216,.,. 1,.,. recessive HG002 HG002 chr17:26469497:G:T 2,.,. -1 -1 -1 -1 -1 -1 216,.,. 0.986111,.,. recessive HG002 HG002 chr17:26469523:A:C 2,.,. -1 -1 -1 -1 -1 -1 216,.,. 1,.,. recessive HG002 HG002 chr17:26469892:G:T 2,.,. -1 -1 -1 -1 -1 -1 214,.,. 1,.,. recessive HG002 HG002 chr17:26469913:C:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26469927:C:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26469951:G:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26469963:G:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26469973:G:C 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470013:T:A 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 1,.,. recessive HG002 HG002 chr17:26470030:T:C 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470032:G:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.993631,.,. recessive HG002 HG002 chr17:26470047:T:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470058:G:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470064:T:C 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470067:G:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470119:C:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26470137:C:G 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470156:G:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26470202:C:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470207:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26470231:G:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26470246:C:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470255:G:A 2,.,. -1 -1 -1 0.00140154 2 4 157,.,. 1,.,. recessive HG002 HG002 chr17:26470261:G:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470285:C:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470299:T:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.993631,.,. recessive HG002 HG002 chr17:26470322:G:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470329:G:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470331:A:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26470393:G:T 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470402:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26470430:C:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470455:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26470456:T:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26470459:C:G 2,.,. -1 -1 -1 -1 -1 -1 152,.,. 1,.,. recessive HG002 HG002 chr17:26470482:G:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470487:A:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26470509:C:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26470532:T:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26470549:T:G 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470562:T:A 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 1,.,. recessive HG002 HG002 chr17:26470593:G:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26470619:G:T 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 1,.,. recessive HG002 HG002 chr17:26470625:T:G 2,.,. -1 -1 -1 -1 -1 -1 170,.,. 1,.,. recessive HG002 HG002 chr17:26470647:C:T 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 1,.,. recessive HG002 HG002 chr17:26470665:C:G 2,.,. -1 -1 -1 -1 -1 -1 171,.,. 1,.,. recessive HG002 HG002 chr17:26470774:G:T 2,.,. -1 -1 -1 0.00280308 4 8 172,.,. 0.988372,.,. recessive HG002 HG002 chr17:26470829:G:T 2,.,. -1 -1 -1 -1 -1 -1 172,.,. 0.994186,.,. recessive HG002 HG002 chr17:26470834:C:A 2,.,. -1 -1 -1 -1 -1 -1 170,.,. 0.994118,.,. recessive HG002 HG002 chr17:26470835:A:T 2,.,. -1 -1 -1 -1 -1 -1 171,.,. 0.994152,.,. recessive HG002 HG002 chr17:26470839:C:G 2,.,. -1 -1 -1 -1 -1 -1 172,.,. 0.994186,.,. recessive HG002 HG002 chr17:26470842:T:C 2,.,. -1 -1 -1 -1 -1 -1 171,.,. 0.982456,.,. recessive HG002 HG002 chr17:26470856:C:T 2,.,. -1 -1 -1 -1 -1 -1 172,.,. 0.994186,.,. recessive HG002 HG002 chr17:26471238:A:T 2,.,. -1 -1 -1 -1 -1 -1 170,.,. 1,.,. recessive HG002 HG002 chr17:26471256:C:T 2,.,. -1 -1 -1 -1 -1 -1 170,.,. 1,.,. recessive HG002 HG002 chr17:26471259:C:T 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 1,.,. recessive HG002 HG002 chr17:26471317:A:T 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 1,.,. recessive HG002 HG002 chr17:26471416:A:T 2,.,. -1 -1 -1 -1 -1 -1 171,.,. 1,.,. recessive HG002 HG002 chr17:26471427:A:T 2,.,. -1 -1 -1 -1 -1 -1 170,.,. 0.994118,.,. recessive HG002 HG002 chr17:26471456:C:T 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 0.984962,.,. recessive HG002 HG002 chr17:26471464:C:A 2,.,. -1 -1 -1 -1 -1 -1 132,.,. 1,.,. recessive HG002 HG002 chr17:26471467:A:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26471468:G:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.992857,.,. recessive HG002 HG002 chr17:26471475:G:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.992857,.,. recessive HG002 HG002 chr17:26471481:T:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26471488:G:T 2,.,. -1 -1 -1 -1 -1 -1 135,.,. 1,.,. recessive HG002 HG002 chr17:26471508:G:T 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr17:26471518:G:A 2,.,. -1 -1 -1 -1 -1 -1 132,.,. 1,.,. recessive HG002 HG002 chr17:26471531:T:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26471548:G:T 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 1,.,. recessive HG002 HG002 chr17:26471561:G:T 2,.,. -1 -1 -1 -1 -1 -1 132,.,. 1,.,. recessive HG002 HG002 chr17:26471570:T:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26471632:C:T 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 0.984962,.,. recessive HG002 HG002 chr17:26471638:A:C 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 0.985075,.,. recessive HG002 HG002 chr17:26471640:A:C 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.992857,.,. recessive HG002 HG002 chr17:26471643:C:T 2,.,. -1 -1 -1 -1 -1 -1 132,.,. 0.992424,.,. recessive HG002 HG002 chr17:26471661:C:G 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.992857,.,. recessive HG002 HG002 chr17:26471687:G:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26471701:G:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26471711:A:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26471724:C:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26471726:G:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:26471738:T:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26471748:G:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26471794:G:C 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26471795:G:T 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 1,.,. recessive HG002 HG002 chr17:26471808:C:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26471817:C:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26471818:C:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26471821:T:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26471850:T:C 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.992857,.,. recessive HG002 HG002 chr17:26471855:C:G 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 0.992481,.,. recessive HG002 HG002 chr17:26471887:G:A 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 1,.,. recessive HG002 HG002 chr17:26471888:A:AT 2,.,. -1 -1 -1 -1 -1 -1 130,.,. 1,.,. recessive HG002 HG002 chr17:26471945:G:A 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26471962:T:G 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26471963:C:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:26471966:G:A 2,.,. -1 -1 -1 -1 -1 -1 133,.,. 1,.,. recessive HG002 HG002 chr17:26471969:G:C 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26471975:C:G 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26471982:T:C 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26471985:A:T 2,.,. -1 -1 -1 0.000700771 0 2 131,.,. 1,.,. recessive HG002 HG002 chr17:26471987:C:T 2,.,. -1 -1 -1 -1 -1 -1 132,.,. 1,.,. recessive HG002 HG002 chr17:26472007:T:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 1,.,. recessive HG002 HG002 chr17:26472008:G:A 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26472054:C:G 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26472058:T:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26472077:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472080:G:C 2,.,. -1 -1 -1 -1 -1 -1 135,.,. 1,.,. recessive HG002 HG002 chr17:26472087:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472100:T:A 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 1,.,. recessive HG002 HG002 chr17:26472137:C:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26472138:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472157:G:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.985816,.,. recessive HG002 HG002 chr17:26472165:T:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26472167:T:A 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 0.985294,.,. recessive HG002 HG002 chr17:26472176:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472195:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472209:A:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26472213:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472216:T:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26472232:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472235:T:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26472239:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472439:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472441:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472444:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472456:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472457:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472460:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472463:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472472:C:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26472478:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472479:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472484:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472490:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472497:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472498:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472503:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472506:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472508:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472517:A:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472550:G:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26472554:T:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26472557:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472568:G:GA 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.992857,.,. recessive HG002 HG002 chr17:26472572:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472575:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472579:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472589:G:A 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.992857,.,. recessive HG002 HG002 chr17:26472608:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472624:A:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472629:C:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26472633:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472641:G:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.992857,.,. recessive HG002 HG002 chr17:26472642:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472648:C:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472651:A:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26472654:G:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472661:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472666:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472667:G:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26472674:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472679:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472684:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472686:A:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26472687:A:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26472689:G:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472715:G:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472719:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472722:A:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26472727:A:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26472729:T:A 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 1,.,. recessive HG002 HG002 chr17:26472733:G:C 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 0.992701,.,. recessive HG002 HG002 chr17:26472737:A:T 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.992754,.,. recessive HG002 HG002 chr17:26472740:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472742:T:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26472746:T:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26472748:G:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26472756:A:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472759:C:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472763:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472769:C:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472774:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472780:T:C 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26472783:G:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26472790:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472794:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472804:C:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26472815:C:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472816:T:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26472824:G:T 2,.,. -1 -1 -1 -1 -1 -1 134,.,. 0.992537,.,. recessive HG002 HG002 chr17:26472835:C:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26472837:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472838:T:C 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.992754,.,. recessive HG002 HG002 chr17:26472853:C:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472855:A:G 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26472871:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472872:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472879:G:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:26472887:T:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26472890:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472893:G:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26472896:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472903:A:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:26472909:T:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:26472918:C:A 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26472923:T:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26472928:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472930:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472947:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26472961:A:C 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26472987:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26472995:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.985915,.,. recessive HG002 HG002 chr17:26473001:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473003:C:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26473006:T:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.985816,.,. recessive HG002 HG002 chr17:26473015:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473022:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473024:G:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473025:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473026:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473028:C:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26473038:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473045:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473047:A:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473050:C:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26473052:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473059:A:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473061:A:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26473062:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473064:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473065:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473067:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473074:C:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26473080:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473087:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473089:A:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473099:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473101:C:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26473109:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473118:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473121:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473132:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473143:A:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26473146:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473160:T:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:26473166:C:G 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.992857,.,. recessive HG002 HG002 chr17:26473168:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473171:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473172:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473175:C:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26473176:G:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26473179:T:G 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26473185:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473192:T:G 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26473195:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473198:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473203:A:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26473212:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473215:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.985915,.,. recessive HG002 HG002 chr17:26473222:A:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26473225:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473228:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473230:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473234:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473235:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473239:C:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26473241:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473244:C:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26473247:G:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.985915,.,. recessive HG002 HG002 chr17:26473248:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473252:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473258:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473261:G:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.992754,.,. recessive HG002 HG002 chr17:26473263:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473265:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473274:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473278:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473282:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473290:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473295:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473297:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473300:T:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26473303:T:C 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26473310:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26473326:G:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26473341:T:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26473350:A:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26473361:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.986207,.,. recessive HG002 HG002 chr17:26473363:C:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26473381:C:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26473390:A:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26473396:G:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26473403:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26473423:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26473428:G:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26473470:C:T 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 1,.,. recessive HG002 HG002 chr17:26473490:G:T 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 0.993151,.,. recessive HG002 HG002 chr17:26473522:A:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26473529:T:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26473545:G:T 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26473546:G:A 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 0.986301,.,. recessive HG002 HG002 chr17:26473551:A:T 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 1,.,. recessive HG002 HG002 chr17:26473555:C:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26473561:T:C 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 0.993151,.,. recessive HG002 HG002 chr17:26473570:A:T 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 0.993151,.,. recessive HG002 HG002 chr17:26473575:A:T 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 0.992806,.,. recessive HG002 HG002 chr17:26473577:T:G 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.992857,.,. recessive HG002 HG002 chr17:26473591:T:C 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 0.992857,.,. recessive HG002 HG002 chr17:26473598:A:G 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 0.986301,.,. recessive HG002 HG002 chr17:26473826:T:G 2,.,. -1 -1 -1 -1 -1 -1 147,.,. 0.993197,.,. recessive HG002 HG002 chr17:26473858:G:A 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 0.993151,.,. recessive HG002 HG002 chr17:26473859:G:C 2,.,. -1 -1 -1 -1 -1 -1 146,.,. 0.993151,.,. recessive HG002 HG002 chr17:26473881:T:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26473882:A:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26473887:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26473891:G:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26473898:C:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26473907:T:A 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.992754,.,. recessive HG002 HG002 chr17:26473936:C:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26473940:A:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26473949:A:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26473953:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26473961:C:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26473966:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26473968:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26473971:C:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26473974:C:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26473981:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474021:C:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474032:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474034:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.986111,.,. recessive HG002 HG002 chr17:26474043:G:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474049:C:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474052:G:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26474061:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474074:T:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474081:T:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26474095:C:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474097:G:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26474118:T:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474127:A:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474130:A:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474141:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474152:G:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26474155:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26474176:G:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474178:C:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474181:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474182:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474185:G:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474186:T:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474189:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26474195:T:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474202:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474205:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474208:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26474213:G:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474222:G:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474225:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474232:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474235:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.986111,.,. recessive HG002 HG002 chr17:26474238:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474240:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26474244:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474245:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474251:T:A 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26474254:A:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.986111,.,. recessive HG002 HG002 chr17:26474257:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26474258:A:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26474262:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474268:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474271:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26474273:A:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474275:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474284:T:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474298:A:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474304:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26474312:C:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474338:T:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474346:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26474352:A:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474354:A:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474357:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474366:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26474373:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474375:C:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474376:C:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474377:A:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474379:A:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.986111,.,. recessive HG002 HG002 chr17:26474389:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26474396:T:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474398:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26474401:G:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474402:G:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474403:G:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474412:C:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474413:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26474415:G:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474416:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474418:G:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474425:A:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26474431:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474438:C:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474440:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474452:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474462:G:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474473:C:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26474476:T:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474483:A:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26474487:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26474497:A:C 2,.,. -1 -1 -1 -1 -1 -1 140,.,. 1,.,. recessive HG002 HG002 chr17:26474508:G:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474509:G:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474517:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26474522:C:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474528:T:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26474530:T:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.986111,.,. recessive HG002 HG002 chr17:26474531:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474532:C:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474535:T:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474544:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474546:G:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474548:G:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474564:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474565:A:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474574:T:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26474580:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474583:A:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 1,.,. recessive HG002 HG002 chr17:26474589:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26474596:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26474599:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26474615:C:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474617:A:ACT 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474619:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474641:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26474644:C:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474656:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474657:G:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474662:A:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474666:C:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474674:T:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474675:C:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474678:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474681:G:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474684:T:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474687:C:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474694:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474699:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474700:T:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474707:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474708:G:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474712:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26474717:A:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474719:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474720:G:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474722:C:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474755:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474760:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26474762:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474766:C:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474768:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.986014,.,. recessive HG002 HG002 chr17:26474770:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26474773:T:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474779:C:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26474781:T:G 2,.,. -1 -1 -1 -1 -1 -1 138,.,. 0.992754,.,. recessive HG002 HG002 chr17:26474789:G:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26474792:G:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26474799:C:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:26474810:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26474812:T:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474827:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26474828:A:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.986111,.,. recessive HG002 HG002 chr17:26474831:C:T 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26474849:C:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474850:C:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26474855:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474861:A:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.986207,.,. recessive HG002 HG002 chr17:26474868:T:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474869:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26474874:A:G 2,.,. -1 -1 -1 -1 -1 -1 141,.,. 0.992908,.,. recessive HG002 HG002 chr17:26474877:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26474879:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26474888:G:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26474895:G:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26474907:G:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26474918:C:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26474921:A:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26474925:G:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26474928:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26474944:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26474947:T:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26474951:A:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475151:A:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475153:A:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475156:T:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475168:A:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475169:G:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475172:T:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475175:A:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475184:C:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475188:C:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26475190:A:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475191:T:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475196:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475202:G:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475209:G:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.986207,.,. recessive HG002 HG002 chr17:26475210:T:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.986207,.,. recessive HG002 HG002 chr17:26475215:G:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475218:A:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475220:A:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475229:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26475259:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.986111,.,. recessive HG002 HG002 chr17:26475262:G:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26475266:T:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475269:G:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475280:G:GA 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26475284:A:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475287:G:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475301:G:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475320:G:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475335:C:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475336:A:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475341:C:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475345:A:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475353:G:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26475354:A:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475360:C:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475363:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475366:G:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475373:C:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475378:T:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.986207,.,. recessive HG002 HG002 chr17:26475379:G:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475386:C:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475391:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26475396:G:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475398:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475399:A:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475401:G:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475427:G:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475434:A:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475439:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26475441:T:A 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:26475445:G:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26475447:G:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.986207,.,. recessive HG002 HG002 chr17:26475449:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26475452:G:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475454:T:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26475458:T:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475460:G:T 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26475468:A:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475471:C:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475475:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475481:C:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475486:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26475492:T:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475495:G:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475502:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.986207,.,. recessive HG002 HG002 chr17:26475506:T:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475516:C:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475527:C:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475528:T:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475547:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26475549:A:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26475550:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26475565:C:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475567:A:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475583:C:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475584:G:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475591:G:C 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 1,.,. recessive HG002 HG002 chr17:26475599:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475602:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475605:G:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475615:A:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. recessive HG002 HG002 chr17:26475620:A:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26475621:T:A 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26475630:C:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475635:T:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26475640:G:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475642:T:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475659:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26475673:A:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26475699:A:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26475707:T:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475713:C:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475715:C:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475718:T:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475727:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475734:C:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475736:G:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475737:T:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475738:G:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475740:C:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475750:G:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475757:G:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475759:A:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475762:C:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475764:T:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475771:A:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475773:A:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475776:T:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.986207,.,. recessive HG002 HG002 chr17:26475777:C:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26475779:T:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.986111,.,. recessive HG002 HG002 chr17:26475786:C:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475792:C:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475799:A:C 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475801:A:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475811:T:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475813:C:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475821:G:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475830:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475833:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475844:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475855:A:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475858:C:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475872:T:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475878:C:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26475880:A:C 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26475883:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475884:T:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475887:C:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475888:G:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475891:T:G 2,.,. -1 -1 -1 -1 -1 -1 142,.,. 0.992958,.,. recessive HG002 HG002 chr17:26475897:A:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475904:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26475907:C:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475910:G:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475915:A:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475924:T:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 0.993056,.,. recessive HG002 HG002 chr17:26475927:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475934:A:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26475937:C:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475940:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475942:T:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475946:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475947:C:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475949:T:G 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26475951:C:A 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475953:A:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475956:C:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475959:G:A 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.993007,.,. recessive HG002 HG002 chr17:26475960:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475970:C:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475972:C:T 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475973:G:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.986207,.,. recessive HG002 HG002 chr17:26475975:C:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475977:T:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chr17:26475986:A:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26475990:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26475994:T:A 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26476002:T:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26476007:T:G 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26476009:G:T 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 1,.,. recessive HG002 HG002 chr17:26476012:T:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26476015:T:C 2,.,. -1 -1 -1 -1 -1 -1 145,.,. 0.993103,.,. recessive HG002 HG002 chr17:26476022:G:T 2,.,. -1 -1 -1 -1 -1 -1 143,.,. 1,.,. recessive HG002 HG002 chr17:26476047:G:T 2,.,. -1 -1 -1 -1 -1 -1 177,.,. 1,.,. recessive HG002 HG002 chr17:26476053:T:G 2,.,. -1 -1 -1 -1 -1 -1 176,.,. 1,.,. recessive HG002 HG002 chr17:26476073:T:A 2,.,. -1 -1 -1 -1 -1 -1 177,.,. 0.983051,.,. recessive HG002 HG002 chr17:26476075:C:T 2,.,. -1 -1 -1 -1 -1 -1 177,.,. 1,.,. recessive HG002 HG002 chr17:26476093:C:G 2,.,. -1 -1 -1 -1 -1 -1 177,.,. 1,.,. recessive HG002 HG002 chr17:26476102:A:G 2,.,. -1 -1 -1 -1 -1 -1 177,.,. 0.99435,.,. recessive HG002 HG002 chr17:26476115:A:T 2,.,. -1 -1 -1 -1 -1 -1 174,.,. 1,.,. recessive HG002 HG002 chr17:26476135:T:C 2,.,. -1 -1 -1 -1 -1 -1 176,.,. 1,.,. recessive HG002 HG002 chr17:26476140:G:C 2,.,. -1 -1 -1 -1 -1 -1 176,.,. 1,.,. recessive HG002 HG002 chr17:26476182:C:T 2,.,. -1 -1 -1 -1 -1 -1 182,.,. 1,.,. recessive HG002 HG002 chr17:26476234:A:G 2,.,. -1 -1 -1 -1 -1 -1 180,.,. 1,.,. recessive HG002 HG002 chr17:26476235:C:G 2,.,. -1 -1 -1 -1 -1 -1 182,.,. 0.994505,.,. recessive HG002 HG002 chr17:26476241:T:C 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 1,.,. recessive HG002 HG002 chr17:26476258:G:A 2,.,. -1 -1 -1 -1 -1 -1 182,.,. 0.994505,.,. recessive HG002 HG002 chr17:26476259:T:G 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 1,.,. recessive HG002 HG002 chr17:26476263:A:T 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 1,.,. recessive HG002 HG002 chr17:26476267:C:G 2,.,. -1 -1 -1 -1 -1 -1 180,.,. 1,.,. recessive HG002 HG002 chr17:26476270:T:C 2,.,. -1 -1 -1 -1 -1 -1 182,.,. 0.989011,.,. recessive HG002 HG002 chr17:26476274:T:C 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 0.994475,.,. recessive HG002 HG002 chr17:26476281:C:A 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 0.994083,.,. recessive HG002 HG002 chr17:26476283:A:T 2,.,. -1 -1 -1 -1 -1 -1 182,.,. 0.994505,.,. recessive HG002 HG002 chr17:26476288:A:T 2,.,. -1 -1 -1 -1 -1 -1 171,.,. 0.994152,.,. recessive HG002 HG002 chr17:26476290:T:G 2,.,. -1 -1 -1 -1 -1 -1 170,.,. 0.994118,.,. recessive HG002 HG002 chr17:26476304:T:C 2,.,. -1 -1 -1 -1 -1 -1 174,.,. 0.988506,.,. recessive HG002 HG002 chr17:26476384:C:T 2,.,. -1 -1 -1 -1 -1 -1 183,.,. 1,.,. recessive HG002 HG002 chr17:26476429:A:G 2,.,. -1 -1 -1 0.00210231 3 6 186,.,. 0.983871,.,. recessive HG002 HG002 chr17:26476463:A:C 2,.,. -1 -1 -1 -1 -1 -1 184,.,. 0.98913,.,. recessive HG002 HG002 chr17:26476473:G:T 2,.,. -1 -1 -1 -1 -1 -1 176,.,. 1,.,. recessive HG002 HG002 chr17:26476539:T:G 2,.,. -1 -1 -1 -1 -1 -1 185,.,. 0.994595,.,. recessive HG002 HG002 chr17:26476571:G:A 2,.,. -1 -1 -1 -1 -1 -1 185,.,. 0.994595,.,. recessive HG002 HG002 chr17:26476572:G:C 2,.,. -1 -1 -1 -1 -1 -1 185,.,. 0.994595,.,. recessive HG002 HG002 chr17:26476594:T:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476595:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.987097,.,. recessive HG002 HG002 chr17:26476600:T:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26476604:G:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476611:C:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26476630:C:G 2,.,. -1 -1 -1 -1 -1 -1 148,.,. 0.993243,.,. recessive HG002 HG002 chr17:26476633:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.987097,.,. recessive HG002 HG002 chr17:26476652:A:G 2,.,. -1 -1 -1 -1 -1 -1 148,.,. 0.993243,.,. recessive HG002 HG002 chr17:26476661:A:T 2,.,. -1 -1 -1 -1 -1 -1 151,.,. 0.993378,.,. recessive HG002 HG002 chr17:26476665:A:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26476673:C:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26476678:G:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26476680:T:G 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 0.993464,.,. recessive HG002 HG002 chr17:26476683:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26476686:C:T 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 1,.,. recessive HG002 HG002 chr17:26476693:T:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26476733:C:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26476744:A:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26476746:T:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476749:T:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476755:G:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26476764:G:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.987013,.,. recessive HG002 HG002 chr17:26476786:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476803:TA:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476807:C:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26476809:G:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476830:T:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476839:A:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26476842:A:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26476853:A:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26476864:G:A 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 1,.,. recessive HG002 HG002 chr17:26476867:A:C 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 0.993464,.,. recessive HG002 HG002 chr17:26476878:CA:C 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 0.986928,.,. recessive HG002 HG002 chr17:26476882:C:T 2,.,. -1 -1 -1 -1 -1 -1 152,.,. 0.986842,.,. recessive HG002 HG002 chr17:26476888:G:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26476890:C:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26476893:A:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26476894:G:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26476897:G:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.980645,.,. recessive HG002 HG002 chr17:26476898:T:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.987013,.,. recessive HG002 HG002 chr17:26476901:G:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26476907:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26476914:G:T 2,.,. -1 -1 -1 -1 -1 -1 152,.,. 1,.,. recessive HG002 HG002 chr17:26476917:T:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476920:A:G 2,.,. -1 -1 -1 -1 -1 -1 152,.,. 0.993421,.,. recessive HG002 HG002 chr17:26476925:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476934:G:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26476937:A:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26476944:G:A 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 1,.,. recessive HG002 HG002 chr17:26476947:T:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476950:A:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26476952:G:T 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 0.986928,.,. recessive HG002 HG002 chr17:26476956:A:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26476957:T:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26476961:A:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26476963:T:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26476966:A:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476969:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476970:A:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476974:G:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26476980:T:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476983:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.987097,.,. recessive HG002 HG002 chr17:26476985:A:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26476987:G:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26476996:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477010:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477016:T:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.987097,.,. recessive HG002 HG002 chr17:26477024:C:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477050:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477058:C:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26477060:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477064:A:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477066:A:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477069:C:T 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 1,.,. recessive HG002 HG002 chr17:26477078:A:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477085:T:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477087:C:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477088:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477089:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477091:A:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477094:G:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477101:T:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477108:T:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477110:G:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26477113:G:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477114:G:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477115:G:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477122:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477124:C:A 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 1,.,. recessive HG002 HG002 chr17:26477125:C:T 2,.,. -1 -1 -1 -1 -1 -1 151,.,. 1,.,. recessive HG002 HG002 chr17:26477127:G:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477128:T:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.987097,.,. recessive HG002 HG002 chr17:26477130:G:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.987097,.,. recessive HG002 HG002 chr17:26477137:A:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477143:T:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477150:C:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477152:G:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477164:T:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477171:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477174:G:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477179:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477185:C:T 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 0.993464,.,. recessive HG002 HG002 chr17:26477188:T:G 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 0.986928,.,. recessive HG002 HG002 chr17:26477195:A:T 2,.,. -1 -1 -1 -1 -1 -1 152,.,. 1,.,. recessive HG002 HG002 chr17:26477199:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477209:A:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477220:G:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477221:G:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477229:T:G 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 0.980392,.,. recessive HG002 HG002 chr17:26477240:T:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26477242:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.987097,.,. recessive HG002 HG002 chr17:26477243:C:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477244:C:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477247:T:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477256:C:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477258:G:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26477260:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477276:T:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26477277:A:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26477284:C:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26477286:T:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477292:A:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477295:A:T 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 1,.,. recessive HG002 HG002 chr17:26477298:T:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.987013,.,. recessive HG002 HG002 chr17:26477301:T:G 2,.,. -1 -1 -1 -1 -1 -1 152,.,. 0.986842,.,. recessive HG002 HG002 chr17:26477308:C:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477311:G:A 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 0.993464,.,. recessive HG002 HG002 chr17:26477313:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477314:A:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477323:A:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477328:A:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26477329:G:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477333:A:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26477335:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477355:T:G 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 0.993464,.,. recessive HG002 HG002 chr17:26477358:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477366:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477370:T:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477371:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477376:A:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477380:C:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477385:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477388:T:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477389:C:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477395:G:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477398:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477401:C:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477408:T:C 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 1,.,. recessive HG002 HG002 chr17:26477413:C:T 2,.,. -1 -1 -1 -1 -1 -1 152,.,. 1,.,. recessive HG002 HG002 chr17:26477414:T:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.987013,.,. recessive HG002 HG002 chr17:26477421:T:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477422:G:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477426:T:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477428:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477431:A:G 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 1,.,. recessive HG002 HG002 chr17:26477433:T:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477434:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477436:C:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477462:C:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477469:G:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477474:G:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26477476:A:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26477480:C:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477482:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477484:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477487:T:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477493:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477495:T:G 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 0.993464,.,. recessive HG002 HG002 chr17:26477503:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477506:G:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477513:C:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477524:C:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26477526:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477529:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477541:C:A 2,.,. -1 -1 -1 -1 -1 -1 152,.,. 1,.,. recessive HG002 HG002 chr17:26477542:A:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.987013,.,. recessive HG002 HG002 chr17:26477545:C:T 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 0.993464,.,. recessive HG002 HG002 chr17:26477563:C:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477564:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477569:A:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477575:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477582:T:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.987013,.,. recessive HG002 HG002 chr17:26477583:G:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477588:A:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.987013,.,. recessive HG002 HG002 chr17:26477591:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477593:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477602:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477609:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477621:G:T 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 1,.,. recessive HG002 HG002 chr17:26477632:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477635:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477639:G:T 2,.,. -1 -1 -1 -1 -1 -1 152,.,. 1,.,. recessive HG002 HG002 chr17:26477642:T:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26477653:GA:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26477658:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26477661:T:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26477665:A:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26477865:A:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:26477867:A:T 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.99375,.,. recessive HG002 HG002 chr17:26477870:T:C 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.99375,.,. recessive HG002 HG002 chr17:26477882:A:C 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.99375,.,. recessive HG002 HG002 chr17:26477883:G:A 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.99375,.,. recessive HG002 HG002 chr17:26477886:T:C 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.99375,.,. recessive HG002 HG002 chr17:26477889:A:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:26477898:C:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:26477902:C:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.987421,.,. recessive HG002 HG002 chr17:26477904:A:C 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.99375,.,. recessive HG002 HG002 chr17:26477905:T:C 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:26477910:T:A 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.99375,.,. recessive HG002 HG002 chr17:26477916:G:A 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.99375,.,. recessive HG002 HG002 chr17:26477923:G:T 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.98125,.,. recessive HG002 HG002 chr17:26477924:T:G 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.9875,.,. recessive HG002 HG002 chr17:26477929:G:A 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:26477932:A:T 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.99375,.,. recessive HG002 HG002 chr17:26477934:A:T 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.99375,.,. recessive HG002 HG002 chr17:26477943:A:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:26477973:T:C 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.99375,.,. recessive HG002 HG002 chr17:26477976:G:A 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:26477980:T:G 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.99375,.,. recessive HG002 HG002 chr17:26477983:G:T 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:26477998:A:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26478001:G:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478015:G:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478034:G:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478049:C:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478050:A:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478055:C:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478059:A:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478067:G:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478068:A:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478074:C:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478077:A:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478080:G:C 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478087:C:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26478092:T:C 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478093:G:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478100:C:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478105:G:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478110:G:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478112:A:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26478113:A:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478115:G:C 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478141:G:C 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26478148:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478153:A:G 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 1,.,. recessive HG002 HG002 chr17:26478155:T:A 2,.,. -1 -1 -1 -1 -1 -1 151,.,. 1,.,. recessive HG002 HG002 chr17:26478159:G:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478161:G:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.987179,.,. recessive HG002 HG002 chr17:26478163:A:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478166:G:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478168:T:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26478172:T:C 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478174:G:T 2,.,. -1 -1 -1 -1 -1 -1 152,.,. 1,.,. recessive HG002 HG002 chr17:26478182:A:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26478185:C:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478189:T:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478195:C:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478200:G:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478206:T:C 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478209:G:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478216:T:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478220:T:C 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478230:C:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478241:C:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26478242:T:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478250:G:T 2,.,. -1 -1 -1 -1 -1 -1 149,.,. 0.993289,.,. recessive HG002 HG002 chr17:26478261:C:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26478263:A:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478264:T:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478279:C:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478281:A:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26478297:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478298:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478305:G:C 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478313:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478316:T:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478319:G:T 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 1,.,. recessive HG002 HG002 chr17:26478329:A:C 2,.,. -1 -1 -1 -1 -1 -1 150,.,. 1,.,. recessive HG002 HG002 chr17:26478332:A:G 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 0.986928,.,. recessive HG002 HG002 chr17:26478334:A:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.987013,.,. recessive HG002 HG002 chr17:26478335:T:A 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 0.993464,.,. recessive HG002 HG002 chr17:26478344:C:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478349:T:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26478354:G:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478356:T:C 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478373:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478387:A:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478413:A:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478421:T:C 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478427:C:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478429:C:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478432:T:C 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478441:T:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478448:C:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26478450:G:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478451:T:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478452:G:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478454:C:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26478464:G:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478471:G:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478473:A:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478476:C:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478477:C:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478478:T:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26478485:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478487:A:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478490:T:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.987179,.,. recessive HG002 HG002 chr17:26478491:C:T 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26478493:T:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.987179,.,. recessive HG002 HG002 chr17:26478500:C:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478506:C:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478513:A:C 2,.,. -1 -1 -1 -1 -1 -1 153,.,. 1,.,. recessive HG002 HG002 chr17:26478515:A:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478525:T:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478527:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478535:G:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478544:T:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478547:T:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478558:T:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478569:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478572:C:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478592:C:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478594:A:C 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478597:T:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478598:T:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478601:C:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478602:G:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478605:T:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478611:A:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478618:T:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26478621:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478624:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478629:A:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478638:T:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478641:T:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.987097,.,. recessive HG002 HG002 chr17:26478648:A:G 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26478651:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478654:T:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478656:T:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478660:T:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478661:C:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478663:T:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478665:C:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 1,.,. recessive HG002 HG002 chr17:26478667:A:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478670:C:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478673:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478674:T:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478684:C:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478686:C:T 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478687:G:A 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26478689:C:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478691:T:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.980645,.,. recessive HG002 HG002 chr17:26478700:A:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478704:T:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478708:T:A 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478716:T:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478721:T:G 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478723:G:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 1,.,. recessive HG002 HG002 chr17:26478726:T:C 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26478729:T:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 0.993548,.,. recessive HG002 HG002 chr17:26478761:G:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:26478767:T:G 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 1,.,. recessive HG002 HG002 chr17:26478787:T:A 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.9875,.,. recessive HG002 HG002 chr17:26478789:C:T 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 1,.,. recessive HG002 HG002 chr17:26478807:C:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:26478816:A:G 2,.,. -1 -1 -1 -1 -1 -1 157,.,. 0.993631,.,. recessive HG002 HG002 chr17:26478829:A:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:26478849:T:C 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 1,.,. recessive HG002 HG002 chr17:26478854:G:C 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 1,.,. recessive HG002 HG002 chr17:26478896:C:T 2,.,. -1 -1 -1 -1 -1 -1 161,.,. 1,.,. recessive HG002 HG002 chr17:26478948:A:G 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.981132,.,. recessive HG002 HG002 chr17:26478955:T:C 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.98125,.,. recessive HG002 HG002 chr17:26478971:G:T 2,.,. -1 -1 -1 -1 -1 -1 161,.,. 1,.,. recessive HG002 HG002 chr17:26478977:A:T 2,.,. -1 -1 -1 -1 -1 -1 161,.,. 1,.,. recessive HG002 HG002 chr17:26478981:C:G 2,.,. -1 -1 -1 -1 -1 -1 161,.,. 1,.,. recessive HG002 HG002 chr17:26478984:T:C 2,.,. -1 -1 -1 -1 -1 -1 161,.,. 1,.,. recessive HG002 HG002 chr17:26478988:T:C 2,.,. -1 -1 -1 -1 -1 -1 161,.,. 0.993789,.,. recessive HG002 HG002 chr17:26478995:C:A 2,.,. -1 -1 -1 -1 -1 -1 154,.,. 0.993506,.,. recessive HG002 HG002 chr17:26478997:A:T 2,.,. -1 -1 -1 -1 -1 -1 159,.,. 0.993711,.,. recessive HG002 HG002 chr17:26479002:A:T 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26479004:T:G 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.99359,.,. recessive HG002 HG002 chr17:26479018:T:C 2,.,. -1 -1 -1 -1 -1 -1 156,.,. 0.987179,.,. recessive HG002 HG002 chr17:26479023:T:C 2,.,. -1 -1 -1 -1 -1 -1 161,.,. 0.993789,.,. recessive HG002 HG002 chr17:26479028:A:C 2,.,. -1 -1 -1 -1 -1 -1 155,.,. 1,.,. recessive HG002 HG002 chr17:26479233:T:C 2,.,. -1 -1 -1 -1 -1 -1 158,.,. 0.993671,.,. recessive HG002 HG002 chr17:26479253:T:G 2,.,. -1 -1 -1 0.00175193 0 5 160,.,. 0.99375,.,. recessive HG002 HG002 chr17:26479285:G:A 2,.,. -1 -1 -1 -1 -1 -1 160,.,. 0.99375,.,. recessive HG002 HG002 chr17:26479309:A:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26479314:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26479318:G:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26479325:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26479344:C:A 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 0.986842,.,. recessive HG002 HG002 chr17:26479358:C:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:26479360:C:A 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:26479363:C:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26479367:A:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26479375:A:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26479376:A:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26479380:A:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26479388:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26479393:G:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26479395:T:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26479398:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26479401:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26479408:T:G 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26479411:A:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26479459:A:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26479485:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26479488:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26479501:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26479557:A:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26479579:G:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26479597:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.983051,.,. recessive HG002 HG002 chr17:26479603:A:C 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26479605:C:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26479608:A:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26479609:G:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26479613:T:G 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr17:26479616:G:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr17:26479619:T:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26479622:T:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26479629:C:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26479632:T:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr17:26479635:A:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 0.983871,.,. recessive HG002 HG002 chr17:26479640:G:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr17:26479641:G:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26479649:G:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26479652:A:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26479659:G:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26479662:T:C 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 0.983871,.,. recessive HG002 HG002 chr17:26479665:A:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr17:26479667:G:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr17:26479671:A:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr17:26479689:G:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26479698:A:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26479702:G:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26479711:T:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26479781:A:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26479802:C:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26479829:G:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26479860:A:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26479865:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26479889:G:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26479935:G:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26479991:T:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 0.987342,.,. recessive HG002 HG002 chr17:26480044:G:A 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26480061:TC:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26480074:C:T 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 0.987179,.,. recessive HG002 HG002 chr17:26480104:T:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26480105:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26480111:G:C 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26480117:C:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26480124:T:C 2,.,. -1 -1 -1 -1 -1 -1 78,.,. 1,.,. recessive HG002 HG002 chr17:26480150:G:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26480196:C:G 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26480208:C:A 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26480222:G:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26480229:C:A 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26480280:C:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26480299:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26480348:C:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26480355:G:T 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26480358:T:G 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr17:26480374:T:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr17:26480377:T:G 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.984127,.,. recessive HG002 HG002 chr17:26480771:C:A 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26480775:A:C 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26480793:A:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26480809:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26480826:G:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 0.988506,.,. recessive HG002 HG002 chr17:26480864:A:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26480871:T:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26480882:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 0.988506,.,. recessive HG002 HG002 chr17:26480888:T:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 0.988506,.,. recessive HG002 HG002 chr17:26480890:G:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26480905:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26480916:G:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26480922:T:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26480932:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26480936:T:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26480946:C:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26480956:G:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26480977:C:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26480979:A:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26480997:A:G 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26481013:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481014:G:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481021:G:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481035:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:26481045:A:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481048:A:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481065:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481072:T:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481089:G:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481119:G:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481143:C:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481157:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481164:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481180:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481187:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481189:A:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481192:C:G 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26481194:T:G 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26481203:A:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481216:C:A 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:26481222:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481251:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481260:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481314:T:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481321:T:G 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr17:26481337:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481340:G:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481345:A:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481367:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481405:C:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481407:T:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481451:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481483:T:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481505:C:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26481523:C:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481693:A:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481697:C:G 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26481700:T:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481714:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481756:A:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26481766:G:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482097:A:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482115:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482285:A:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482325:A:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482326:G:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26482333:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 0.988506,.,. recessive HG002 HG002 chr17:26482339:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482346:G:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:26482366:G:T 2,.,. -1 -1 -1 -1 -1 -1 79,.,. 1,.,. recessive HG002 HG002 chr17:26482428:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482456:C:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482482:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482498:A:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482501:C:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26482517:T:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482519:C:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482556:C:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482559:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482569:A:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482582:C:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482590:G:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26482598:GA:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482607:G:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482642:A:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482653:G:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482654:G:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26482676:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482677:C:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482680:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482725:A:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26482799:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482804:G:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482813:C:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482821:T:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482822:C:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26482825:G:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26482828:G:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482834:C:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482841:T:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482846:C:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:26482854:T:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482855:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482864:A:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482867:G:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482895:C:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482902:G:A 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26482936:G:A 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26482939:G:C 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26482946:C:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26482997:C:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26483002:A:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26483016:G:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26483035:G:A 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26483054:G:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26483072:G:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26483075:T:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 0.988506,.,. recessive HG002 HG002 chr17:26483322:A:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483488:C:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483492:A:C 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:26483510:A:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr17:26483526:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483538:G:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26483588:T:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26483599:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483605:T:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483607:G:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26483622:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483639:T:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483649:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483663:C:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483694:C:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26483696:A:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483714:A:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483730:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483731:G:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483762:A:C 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26483765:A:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 0.988506,.,. recessive HG002 HG002 chr17:26483777:C:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26483782:T:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483789:G:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483806:G:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483836:G:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483860:C:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483874:T:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26483881:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483897:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483904:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483906:A:G 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26483909:C:G 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26483911:T:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483920:A:C 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483933:C:A 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:26483939:C:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26483968:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26483977:T:A 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26484031:T:G 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26484035:G:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26484054:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26484057:G:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26484062:A:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26484084:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26484122:C:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26484124:T:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26484168:G:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26484200:T:G 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26484222:C:T 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26484240:C:G 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26484404:G:T 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26484410:A:T 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26484414:C:G 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26484417:T:C 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26484813:A:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26484831:C:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26485145:T:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26485236:C:G 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26485262:G:C 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26485276:G:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26485323:G:C 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26485351:A:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26485369:G:C 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26485392:C:T 2,.,. -1 -1 -1 -1 -1 -1 86,.,. 1,.,. recessive HG002 HG002 chr17:26485393:C:G 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26485396:T:A 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26485518:T:G 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26485520:G:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26485537:T:G 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 0.988764,.,. recessive HG002 HG002 chr17:26485538:C:A 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26485544:G:C 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26485548:C:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26485550:C:G 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26485557:T:C 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26485583:G:A 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26485611:C:G 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26485629:C:G 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26485638:G:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26485652:G:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26485662:C:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26485713:C:T 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26485751:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26485763:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26485770:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26486185:A:T 2,.,. -1 -1 -1 -1 -1 -1 97,.,. 1,.,. recessive HG002 HG002 chr17:26486194:A:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 0.989796,.,. recessive HG002 HG002 chr17:26486204:C:A 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:26486208:A:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 0.989796,.,. recessive HG002 HG002 chr17:26486242:G:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:26486254:C:T 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:26486264:G:C 2,.,. -1 -1 -1 -1 -1 -1 98,.,. 1,.,. recessive HG002 HG002 chr17:26486297:A:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.987013,.,. recessive HG002 HG002 chr17:26486304:T:A 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26486315:G:T 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486321:T:C 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486323:G:T 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486338:T:A 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486349:G:A 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486355:T:C 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486365:T:A 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 0.988889,.,. recessive HG002 HG002 chr17:26486379:C:A 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 0.988889,.,. recessive HG002 HG002 chr17:26486410:C:T 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486428:C:G 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486430:A:G 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 0.988889,.,. recessive HG002 HG002 chr17:26486446:C:T 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 0.988889,.,. recessive HG002 HG002 chr17:26486447:G:A 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486478:A:C 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 0.988889,.,. recessive HG002 HG002 chr17:26486493:C:A 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486498:T:A 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486505:T:C 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26486522:G:A 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486552:G:A 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486563:C:T 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486576:C:A 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486590:T:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 0.988764,.,. recessive HG002 HG002 chr17:26486597:C:T 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 0.988636,.,. recessive HG002 HG002 chr17:26486613:G:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26486620:G:T 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486622:A:G 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26486625:C:G 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 0.988889,.,. recessive HG002 HG002 chr17:26486627:T:G 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26486636:A:C 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 0.988889,.,. recessive HG002 HG002 chr17:26486649:C:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 0.988764,.,. recessive HG002 HG002 chr17:26486655:C:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26486684:G:T 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486693:T:A 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486747:T:G 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486750:C:G 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486751:G:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26486773:G:A 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486778:A:G 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486800:C:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26486823:T:A 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26486840:T:G 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26486867:G:C 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486872:G:T 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486897:G:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26486901:G:A 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486910:G:T 2,.,. -1 -1 -1 -1 -1 -1 90,.,. 1,.,. recessive HG002 HG002 chr17:26486916:T:G 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26486938:C:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26486956:C:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26486978:A:C 2,.,. -1 -1 -1 -1 -1 -1 76,.,. 1,.,. recessive HG002 HG002 chr17:26487097:A:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26487120:G:T 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26487130:C:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chr17:26487133:T:C 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chr17:26487529:A:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:26487547:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:26487550:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:26487557:T:C 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26487577:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 0.988235,.,. recessive HG002 HG002 chr17:26487597:C:T 2,.,. -1 -1 -1 -1 -1 -1 77,.,. 1,.,. recessive HG002 HG002 chr17:26487706:A:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:26487717:A:T 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 1,.,. recessive HG002 HG002 chr17:26487728:G:C 2,.,. -1 -1 -1 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2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr17:26488084:G:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26488085:G:T 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:26488111:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26488235:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26488252:T:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr17:26488256:G:A 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:26488259:G:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26488265:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26488272:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26488298:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26488352:G:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26488367:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26488370:G:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr17:26488377:C:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26488428:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26488466:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26488485:G:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr17:26488898:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26488919:C:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26488923:A:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26488957:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26488974:G:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26489019:T:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26489030:G:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26489053:T:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26489070:T:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26489080:T:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26489094:C:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26489125:C:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26489145:A:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26489161:C:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26489162:G:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26489193:A:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 0.983607,.,. recessive HG002 HG002 chr17:26489208:C:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26489213:T:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26489220:T:C 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26489237:G:A 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr17:26489252:C:T 2,.,. -1 -1 -1 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HG002 chr17:26490969:T:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26490970:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26490976:G:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26490982:C:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26490989:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26491015:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26491145:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26491470:A:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26491636:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26491781:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26491811:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26491862:A:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26491879:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26491925:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26492008:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26492052:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26492068:A:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26492152:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26492174:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26492202:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26492205:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26492210:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26492558:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26492566:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:26492631:G:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr17:26492962:A:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr17:26493195:T:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26493198:G:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26493347:T:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26493663:T:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26493677:C:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26493685:T:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26493692:G:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26493698:C:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26493705:T:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26493803:G:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26493861:C:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr17:26494352:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26494595:G:A 2,.,. -1 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recessive HG002 HG002 chr17:26501551:T:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26501778:C:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26501819:A:C 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr17:26501851:T:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26501967:C:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26501969:T:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26502026:G:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26502085:T:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26502367:T:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26502530:C:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26502894:T:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26502895:G:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26502914:G:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26503130:G:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26503134:T:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26503151:T:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr17:26504000:A:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:26504564:T:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr17:26504682:T:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26504739:G:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr17:26505042:T:C 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26505080:T:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26505569:A:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26505608:G:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26505627:G:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr17:26505864:T:A 2,.,. -1 -1 -1 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recessive HG002 HG002 chr17:26539050:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539070:A:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539077:G:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539113:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539116:A:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539183:T:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539191:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539221:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539222:A:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539241:T:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539243:G:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539246:G:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539247:G:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539283:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539318:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539376:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539410:A:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539433:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539457:A:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539469:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539492:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539510:A:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539522:T:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539523:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539529:G:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26539535:C:G 2,.,. -1 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chr17:26539722:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26539776:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26540020:T:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26540036:C:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26540063:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26540214:G:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26540282:A:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26540297:A:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26540478:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26540586:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26540605:G:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26540607:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26540739:T:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26540755:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26540775:T:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26540782:A:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26540820:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26540821:G:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26540823:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26540825:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26540842:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26540855:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26540896:C:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26541106:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26541111:A:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26541184:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26541444:A:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541498:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541511:A:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26541515:A:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541523:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541569:G:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541732:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541748:T:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541751:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr17:26541767:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541787:A:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541794:G:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541802:G:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541830:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541833:A:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541835:A:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541900:T:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541908:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541938:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541939:A:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541958:T:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541960:G:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541963:G:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26541964:G:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26542000:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26542414:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26542433:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26542492:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26542736:T:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26542779:G:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26542998:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26543013:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26543024:G:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26543194:C:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26543206:T:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26543263:A:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr17:26543302:G:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26543321:G:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26543471:C:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26543498:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26543534:C:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26543537:G:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr17:26543541:T:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:26544230:A:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26544615:T:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:26544623:C:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:26545146:G:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26545205:T:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26545449:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26546034:G:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26546184:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr17:26546254:T:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr17:26550107:G:C 2,.,. -1 -1 -1 -1 -1 -1 282,.,. 1,.,. recessive HG002 HG002 chr17:26550113:G:C 2,.,. -1 -1 -1 -1 -1 -1 280,.,. 0.992857,.,. recessive HG002 HG002 chr17:26550131:G:C 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 0.992883,.,. recessive HG002 HG002 chr17:26550139:C:G 2,.,. -1 -1 -1 -1 -1 -1 283,.,. 0.992933,.,. recessive HG002 HG002 chr17:26550143:C:A 2,.,. -1 -1 -1 -1 -1 -1 282,.,. 1,.,. recessive HG002 HG002 chr17:26550145:G:A 2,.,. -1 -1 -1 -1 -1 -1 283,.,. 1,.,. recessive HG002 HG002 chr17:26550154:A:G 2,.,. -1 -1 -1 -1 -1 -1 283,.,. 0.992933,.,. recessive HG002 HG002 chr17:26550157:T:G 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 1,.,. recessive HG002 HG002 chr17:26550360:T:C 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.989437,.,. recessive HG002 HG002 chr17:26550364:T:C 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.996479,.,. recessive HG002 HG002 chr17:26550365:G:A 2,.,. -1 -1 -1 -1 -1 -1 283,.,. 0.996466,.,. recessive HG002 HG002 chr17:26550374:C:A 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.992958,.,. recessive HG002 HG002 chr17:26550382:T:G 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.996479,.,. recessive HG002 HG002 chr17:26550383:C:A 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.996479,.,. recessive HG002 HG002 chr17:26550386:A:T 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.996479,.,. recessive HG002 HG002 chr17:26550389:G:C 2,.,. -1 -1 -1 -1 -1 -1 283,.,. 0.996466,.,. recessive HG002 HG002 chr17:26550394:T:C 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.982394,.,. recessive HG002 HG002 chr17:26550395:C:G 2,.,. -1 -1 -1 -1 -1 -1 282,.,. 0.996454,.,. recessive HG002 HG002 chr17:26550397:T:G 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 0.992982,.,. recessive HG002 HG002 chr17:26550402:T:A 2,.,. -1 -1 -1 -1 -1 -1 283,.,. 0.996466,.,. recessive HG002 HG002 chr17:26550405:T:C 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.992958,.,. recessive HG002 HG002 chr17:26550407:C:T 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 0.996491,.,. recessive HG002 HG002 chr17:26550415:T:C 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 0.996491,.,. recessive HG002 HG002 chr17:26550416:G:T 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 0.996491,.,. recessive HG002 HG002 chr17:26550422:C:T 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 0.996441,.,. recessive HG002 HG002 chr17:26550423:G:C 2,.,. -1 -1 -1 -1 -1 -1 283,.,. 0.992933,.,. recessive HG002 HG002 chr17:26550424:T:C 2,.,. -1 -1 -1 -1 -1 -1 282,.,. 0.992908,.,. recessive HG002 HG002 chr17:26550427:T:A 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.996479,.,. recessive HG002 HG002 chr17:26550450:C:G 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 0.992982,.,. recessive HG002 HG002 chr17:26550474:C:G 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 0.996491,.,. recessive HG002 HG002 chr17:26550482:G:C 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.996479,.,. recessive HG002 HG002 chr17:26550486:A:C 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.996479,.,. recessive HG002 HG002 chr17:26550488:A:G 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 0.992982,.,. recessive HG002 HG002 chr17:26550494:A:G 2,.,. -1 -1 -1 -1 -1 -1 283,.,. 0.996466,.,. recessive HG002 HG002 chr17:26550497:G:A 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 0.996491,.,. recessive HG002 HG002 chr17:26550500:G:T 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.996479,.,. recessive HG002 HG002 chr17:26550507:C:A 2,.,. -1 -1 -1 0.00175193 2 5 285,.,. 0.996491,.,. recessive HG002 HG002 chr17:26550520:T:A 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 0.992982,.,. recessive HG002 HG002 chr17:26550523:C:T 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 0.996491,.,. recessive HG002 HG002 chr17:26550542:C:G 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 0.992982,.,. recessive HG002 HG002 chr17:26550557:C:A 2,.,. -1 -1 -1 -1 -1 -1 283,.,. 0.996466,.,. recessive HG002 HG002 chr17:26550558:C:T 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.996479,.,. recessive HG002 HG002 chr17:26550562:T:C 2,.,. -1 -1 -1 -1 -1 -1 282,.,. 0.992908,.,. recessive HG002 HG002 chr17:26550565:G:T 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.996479,.,. recessive HG002 HG002 chr17:26550568:T:C 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.996479,.,. recessive HG002 HG002 chr17:26550577:G:T 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 0.996491,.,. recessive HG002 HG002 chr17:26550579:T:G 2,.,. -1 -1 -1 -1 -1 -1 283,.,. 0.996466,.,. recessive HG002 HG002 chr17:26550592:T:G 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 0.996479,.,. recessive HG002 HG002 chr17:26550596:G:A 2,.,. -1 -1 -1 -1 -1 -1 285,.,. 0.992982,.,. recessive HG002 HG002 chr17:26550612:T:G 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 0.992883,.,. recessive HG002 HG002 chr17:26550615:G:A 2,.,. -1 -1 -1 -1 -1 -1 280,.,. 0.996429,.,. recessive HG002 HG002 chr17:26550622:T:G 2,.,. -1 -1 -1 -1 -1 -1 280,.,. 0.996429,.,. recessive HG002 HG002 chr17:26550625:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.996403,.,. recessive HG002 HG002 chr17:26550629:A:G 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 0.992754,.,. recessive HG002 HG002 chr17:26550637:T:G 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 0.98913,.,. recessive HG002 HG002 chr17:26550639:G:A 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 0.985507,.,. recessive HG002 HG002 chr17:26550641:A:T 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 0.989324,.,. recessive HG002 HG002 chr17:26550644:C:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.992832,.,. recessive HG002 HG002 chr17:26550647:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.989247,.,. recessive HG002 HG002 chr17:26550652:T:G 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 0.992883,.,. recessive HG002 HG002 chr17:26550658:C:T 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 0.992883,.,. recessive HG002 HG002 chr17:26550665:A:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26550669:A:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.992832,.,. recessive HG002 HG002 chr17:26550674:A:T 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 0.992883,.,. recessive HG002 HG002 chr17:26550682:T:A 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 0.992883,.,. recessive HG002 HG002 chr17:26550689:C:A 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 0.98917,.,. recessive HG002 HG002 chr17:26550690:T:C 2,.,. -1 -1 -1 -1 -1 -1 280,.,. 0.989286,.,. recessive HG002 HG002 chr17:26550700:T:C 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 0.992883,.,. recessive HG002 HG002 chr17:26550702:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26550703:T:C 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 0.992883,.,. recessive HG002 HG002 chr17:26550706:C:A 2,.,. -1 -1 -1 -1 -1 -1 280,.,. 0.996429,.,. recessive HG002 HG002 chr17:26550707:A:G 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 0.996441,.,. recessive HG002 HG002 chr17:26550710:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.992806,.,. recessive HG002 HG002 chr17:26550713:A:C 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 1,.,. recessive HG002 HG002 chr17:26550716:C:A 2,.,. -1 -1 -1 -1 -1 -1 281,.,. 0.992883,.,. recessive HG002 HG002 chr17:26550722:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.992832,.,. recessive HG002 HG002 chr17:26550728:C:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550735:T:TG 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26550739:A:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550741:T:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26550742:T:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26550746:G:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.996403,.,. recessive HG002 HG002 chr17:26550749:T:C 2,.,. -1 -1 -1 -1 -1 -1 275,.,. 0.996364,.,. recessive HG002 HG002 chr17:26550757:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550760:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550762:C:T 2,.,. -1 -1 -1 0.00140154 2 4 279,.,. 1,.,. recessive HG002 HG002 chr17:26550768:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550771:C:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550781:C:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550789:A:G 2,.,. -1 -1 -1 -1 -1 -1 274,.,. 1,.,. recessive HG002 HG002 chr17:26550792:A:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26550798:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550801:C:A 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26550802:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26550809:C:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550818:T:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.982014,.,. recessive HG002 HG002 chr17:26550819:A:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.982014,.,. recessive HG002 HG002 chr17:26550820:T:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.996403,.,. recessive HG002 HG002 chr17:26550822:T:A 2,.,. -1 -1 -1 -1 -1 -1 269,.,. 1,.,. recessive HG002 HG002 chr17:26550823:CTT:C 2,.,. -1 -1 -1 -1 -1 -1 274,.,. 1,.,. recessive HG002 HG002 chr17:26550830:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550832:A:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550834:AT:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.989247,.,. recessive HG002 HG002 chr17:26550839:G:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26550858:A:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26550859:A:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26550861:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550865:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550872:A:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26550876:A:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550877:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550880:T:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26550890:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550892:C:T 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26550898:A:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26550901:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26550905:TG:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.989247,.,. recessive HG002 HG002 chr17:26550910:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550912:A:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26550913:G:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550923:G:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26550926:A:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26550927:C:G 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26550928:A:T 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26550933:T:C 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26550941:T:A 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26550944:A:G 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26550950:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26550992:A:AC 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 0.99278,.,. recessive HG002 HG002 chr17:26550994:T:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26550999:C:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551000:T:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551004:T:TA 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 0.992754,.,. recessive HG002 HG002 chr17:26551009:G:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551025:A:C 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551027:T:C 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551028:G:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551032:T:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551039:A:T 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26551049:C:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551057:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551059:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551065:A:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.992832,.,. recessive HG002 HG002 chr17:26551068:C:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551070:TA:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551079:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551080:G:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551084:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.989247,.,. recessive HG002 HG002 chr17:26551087:G:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 0.99639,.,. recessive HG002 HG002 chr17:26551099:G:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551104:G:A 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 0.99278,.,. recessive HG002 HG002 chr17:26551108:T:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551109:G:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551120:G:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551127:A:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551128:G:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.992806,.,. recessive HG002 HG002 chr17:26551130:G:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551133:T:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551142:A:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551157:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26551158:T:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551160:G:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551163:T:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551166:T:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551168:GAAA:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26551177:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551183:T:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551192:AG:A 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551200:T:TC 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551203:G:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551211:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551214:T:C 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551224:C:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.996403,.,. recessive HG002 HG002 chr17:26551228:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551231:T:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551236:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26551239:C:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 0.99639,.,. recessive HG002 HG002 chr17:26551243:TG:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.985663,.,. recessive HG002 HG002 chr17:26551247:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.989247,.,. recessive HG002 HG002 chr17:26551250:A:T 2,.,. -1 -1 -1 -1 -1 -1 272,.,. 1,.,. recessive HG002 HG002 chr17:26551251:G:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551255:C:G 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551257:A:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551273:C:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551279:T:A 2,.,. -1 -1 -1 -1 -1 -1 274,.,. 1,.,. recessive HG002 HG002 chr17:26551287:T:G 2,.,. -1 -1 -1 -1 -1 -1 274,.,. 1,.,. recessive HG002 HG002 chr17:26551291:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551293:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551297:G:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.996403,.,. recessive HG002 HG002 chr17:26551298:AG:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.996403,.,. recessive HG002 HG002 chr17:26551300:G:C 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26551301:G:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551307:T:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551310:T:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551311:T:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551313:G:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551314:T:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551315:G:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551318:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26551320:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26551331:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551336:A:C 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26551337:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551338:C:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551343:T:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551345:C:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551346:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551350:T:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551357:A:T 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26551367:G:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551368:C:A 2,.,. -1 -1 -1 -1 -1 -1 275,.,. 1,.,. recessive HG002 HG002 chr17:26551373:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551376:T:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551382:C:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551385:C:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551386:A:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551389:C:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551397:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551401:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551405:A:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.996403,.,. recessive HG002 HG002 chr17:26551408:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551414:T:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551418:G:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551419:A:G 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551420:G:T 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26551421:C:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551429:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551435:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551437:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551445:T:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551446:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551448:C:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551458:G:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551460:G:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551462:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551465:G:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551467:A:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551475:T:G 2,.,. -1 -1 -1 -1 -1 -1 271,.,. 0.99631,.,. recessive HG002 HG002 chr17:26551479:A:G 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551482:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551497:A:G 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551499:TTC:T 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 0.992754,.,. recessive HG002 HG002 chr17:26551503:T:A 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 0.992754,.,. recessive HG002 HG002 chr17:26551504:C:T 2,.,. -1 -1 -1 -1 -1 -1 274,.,. 1,.,. recessive HG002 HG002 chr17:26551520:T:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551681:C:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551699:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551709:A:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551710:A:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551715:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551718:G:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551724:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551727:A:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26551728:G:A 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551730:G:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551731:G:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551739:A:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551743:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551750:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.992832,.,. recessive HG002 HG002 chr17:26551756:G:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551757:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551760:T:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551761:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551762:T:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551763:A:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551771:A:T 2,.,. -1 -1 -1 -1 -1 -1 274,.,. 1,.,. recessive HG002 HG002 chr17:26551777:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551779:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551787:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551788:A:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551790:A:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551800:T:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551802:C:G 2,.,. -1 -1 -1 -1 -1 -1 272,.,. 1,.,. recessive HG002 HG002 chr17:26551804:T:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551807:T:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551809:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26551817:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551821:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.992832,.,. recessive HG002 HG002 chr17:26551824:A:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551839:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551842:A:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551844:T:TC 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551849:G:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551850:C:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.992832,.,. recessive HG002 HG002 chr17:26551852:G:A 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551863:A:T 2,.,. -1 -1 -1 -1 -1 -1 272,.,. 1,.,. recessive HG002 HG002 chr17:26551874:A:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.989247,.,. recessive HG002 HG002 chr17:26551876:C:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.989209,.,. recessive HG002 HG002 chr17:26551880:C:T 2,.,. -1 -1 -1 -1 -1 -1 275,.,. 1,.,. recessive HG002 HG002 chr17:26551883:C:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551891:C:T 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26551894:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551904:A:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551908:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551911:G:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551916:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.992832,.,. recessive HG002 HG002 chr17:26551919:T:C 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 0.99278,.,. recessive HG002 HG002 chr17:26551923:T:TG 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 0.98913,.,. recessive HG002 HG002 chr17:26551926:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551929:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551930:T:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551934:G:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551936:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551952:G:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551958:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551966:G:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.992832,.,. recessive HG002 HG002 chr17:26551970:T:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551971:A:G 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551972:A:T 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26551976:C:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551978:C:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551979:T:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551980:T:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26551986:A:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551989:C:T 2,.,. -1 -1 -1 -1 -1 -1 275,.,. 0.985455,.,. recessive HG002 HG002 chr17:26551990:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26551992:A:G 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551993:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551994:C:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26551997:A:G 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26551999:T:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552010:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552015:C:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26552016:T:C 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552017:A:C 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552020:G:A 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552022:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552024:G:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552025:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552029:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552035:A:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552045:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552046:C:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.996403,.,. recessive HG002 HG002 chr17:26552048:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.992806,.,. recessive HG002 HG002 chr17:26552049:T:G 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26552053:C:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552060:T:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552070:A:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552078:T:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552080:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552086:C:A 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26552089:T:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552091:T:TA 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552099:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552104:C:T 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26552107:T:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552119:T:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552124:A:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552128:A:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552129:C:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552140:T:G 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552141:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.992832,.,. recessive HG002 HG002 chr17:26552147:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552148:C:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552150:T:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552153:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552159:A:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552160:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.989247,.,. recessive HG002 HG002 chr17:26552162:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.989247,.,. recessive HG002 HG002 chr17:26552163:C:T 2,.,. -1 -1 -1 -1 -1 -1 275,.,. 1,.,. recessive HG002 HG002 chr17:26552165:T:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.989247,.,. recessive HG002 HG002 chr17:26552167:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.989247,.,. recessive HG002 HG002 chr17:26552169:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.989247,.,. recessive HG002 HG002 chr17:26552172:C:A 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26552177:T:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552178:A:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552180:A:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552182:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552183:G:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552186:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552191:C:A 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 0.99639,.,. recessive HG002 HG002 chr17:26552192:T:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552193:A:ACT 2,.,. -1 -1 -1 -1 -1 -1 271,.,. 0.98893,.,. recessive HG002 HG002 chr17:26552195:A:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.989247,.,. recessive HG002 HG002 chr17:26552214:C:A 2,.,. -1 -1 -1 -1 -1 -1 265,.,. 1,.,. recessive HG002 HG002 chr17:26552215:C:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552217:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552221:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552228:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552232:C:A 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552233:A:G 2,.,. -1 -1 -1 -1 -1 -1 274,.,. 1,.,. recessive HG002 HG002 chr17:26552236:C:T 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26552246:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552248:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552254:C:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.996403,.,. recessive HG002 HG002 chr17:26552257:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26552261:T:TG 2,.,. -1 -1 -1 -1 -1 -1 273,.,. 1,.,. recessive HG002 HG002 chr17:26552265:A:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552267:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26552268:T:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552278:A:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.992806,.,. recessive HG002 HG002 chr17:26552281:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552282:G:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552283:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552288:C:T 2,.,. -1 -1 -1 -1 -1 -1 275,.,. 0.981818,.,. recessive HG002 HG002 chr17:26552296:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552299:G:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552305:A:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552347:AC:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26552350:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552355:A:C 2,.,. -1 -1 -1 -1 -1 -1 271,.,. 1,.,. recessive HG002 HG002 chr17:26552356:G:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552360:TA:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.996403,.,. recessive HG002 HG002 chr17:26552366:A:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552376:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552383:A:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26552384:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.996403,.,. recessive HG002 HG002 chr17:26552394:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552396:A:T 2,.,. -1 -1 -1 -1 -1 -1 274,.,. 1,.,. recessive HG002 HG002 chr17:26552397:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552400:A:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.996403,.,. recessive HG002 HG002 chr17:26552404:T:C 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552407:C:A 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552410:A:C 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552416:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552422:A:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552429:TG:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.982079,.,. recessive HG002 HG002 chr17:26552434:G:A 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 0.98917,.,. recessive HG002 HG002 chr17:26552436:A:T 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26552437:G:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552441:T:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.992832,.,. recessive HG002 HG002 chr17:26552444:C:T 2,.,. -1 -1 -1 -1 -1 -1 274,.,. 1,.,. recessive HG002 HG002 chr17:26552452:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26552455:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552463:A:G 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552484:G:A 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552487:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552493:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552496:A:C 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26552497:T:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552502:A:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.996403,.,. recessive HG002 HG002 chr17:26552504:G:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26552513:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.992832,.,. recessive HG002 HG002 chr17:26552514:T:A 2,.,. -1 -1 -1 -1 -1 -1 272,.,. 0.992647,.,. recessive HG002 HG002 chr17:26552515:A:T 2,.,. -1 -1 -1 -1 -1 -1 273,.,. 1,.,. recessive HG002 HG002 chr17:26552517:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552518:C:CTT 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552523:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552525:G:A 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552528:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.992806,.,. recessive HG002 HG002 chr17:26552530:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26552532:A:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552541:A:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.996403,.,. recessive HG002 HG002 chr17:26552554:A:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552557:T:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552576:G:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552591:A:C 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552592:T:C 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552596:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552599:T:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552602:C:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552611:T:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.985663,.,. recessive HG002 HG002 chr17:26552613:G:T 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 0.992754,.,. recessive HG002 HG002 chr17:26552626:G:T 2,.,. -1 -1 -1 -1 -1 -1 272,.,. 1,.,. recessive HG002 HG002 chr17:26552630:A:G 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552646:G:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552649:A:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552656:G:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552659:T:C 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552660:T:C 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552663:G:A 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26552670:G:GTCT 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 0.996377,.,. recessive HG002 HG002 chr17:26552671:G:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.992806,.,. recessive HG002 HG002 chr17:26552673:A:G 2,.,. -1 -1 -1 -1 -1 -1 275,.,. 1,.,. recessive HG002 HG002 chr17:26552675:T:A 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26552678:A:C 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 0.99639,.,. recessive HG002 HG002 chr17:26552681:A:G 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26552686:G:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552692:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552699:G:A 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552703:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552708:T:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552728:T:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552736:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552740:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552741:A:G 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552750:A:C 2,.,. -1 -1 -1 -1 -1 -1 272,.,. 1,.,. recessive HG002 HG002 chr17:26552758:G:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552759:A:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552762:T:A 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26552765:C:G 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552770:C:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552771:G:C 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552773:G:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552778:A:T 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552781:C:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552783:T:C 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26552791:C:T 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 1,.,. recessive HG002 HG002 chr17:26552792:T:G 2,.,. -1 -1 -1 -1 -1 -1 277,.,. 0.99639,.,. recessive HG002 HG002 chr17:26552798:T:C 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 0.996403,.,. recessive HG002 HG002 chr17:26552799:C:G 2,.,. -1 -1 -1 -1 -1 -1 278,.,. 1,.,. recessive HG002 HG002 chr17:26552803:A:T 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 1,.,. recessive HG002 HG002 chr17:26552808:G:A 2,.,. -1 -1 -1 -1 -1 -1 279,.,. 0.996416,.,. recessive HG002 HG002 chr17:26552826:G:C 2,.,. -1 -1 -1 -1 -1 -1 282,.,. 0.996454,.,. recessive HG002 HG002 chr17:26552832:G:C 2,.,. -1 -1 -1 -1 -1 -1 283,.,. 1,.,. recessive HG002 HG002 chr17:26552850:G:C 2,.,. -1 -1 -1 -1 -1 -1 280,.,. 1,.,. recessive HG002 HG002 chr17:26552857:A:T 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 1,.,. recessive HG002 HG002 chr17:26552870:G:A 2,.,. -1 -1 -1 -1 -1 -1 283,.,. 1,.,. recessive HG002 HG002 chr17:26552873:A:G 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 1,.,. recessive HG002 HG002 chr17:26552876:T:G 2,.,. -1 -1 -1 -1 -1 -1 284,.,. 1,.,. recessive HG002 HG002 chr17:26553071:C:T 2,.,. -1 -1 -1 -1 -1 -1 282,.,. 1,.,. recessive HG002 HG002 chr17:26553079:T:C 2,.,. -1 -1 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HG002 HG002 chr17:26553126:C:T 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26553134:T:C 2,.,. -1 -1 -1 -1 -1 -1 275,.,. 0.996364,.,. recessive HG002 HG002 chr17:26553135:G:T 2,.,. -1 -1 -1 -1 -1 -1 275,.,. 1,.,. recessive HG002 HG002 chr17:26553141:C:T 2,.,. -1 -1 -1 -1 -1 -1 273,.,. 1,.,. recessive HG002 HG002 chr17:26553143:T:C 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26553146:T:A 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26553169:C:G 2,.,. -1 -1 -1 -1 -1 -1 276,.,. 1,.,. recessive HG002 HG002 chr17:26553175:C:G 2,.,. -1 -1 -1 -1 -1 -1 275,.,. 1,.,. recessive HG002 HG002 chr17:26553193:C:G 2,.,. -1 -1 -1 -1 -1 -1 273,.,. 1,.,. recessive HG002 HG002 chr17:26553201:G:C 2,.,. -1 -1 -1 -1 -1 -1 275,.,. 1,.,. recessive HG002 HG002 chr17:26553205:A:C 2,.,. -1 -1 -1 -1 -1 -1 273,.,. 1,.,. recessive HG002 HG002 chr17:26553207:A:G 2,.,. -1 -1 -1 -1 -1 -1 274,.,. 1,.,. recessive HG002 HG002 chr17:26553213:A:G 2,.,. -1 -1 -1 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recessive HG002 HG002 chr17:26559276:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26559307:A:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26559322:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26559366:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26559405:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26559419:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26559426:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26559449:G:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26559451:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26559579:C:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26559599:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26559602:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26559607:A:G 2,.,. -1 -1 -1 -1 -1 -1 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recessive HG002 HG002 chr17:26560936:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26560937:C:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26560940:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26560952:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26560953:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26560955:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26560960:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26560979:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26560982:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561005:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561018:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561045:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561059:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561060:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561073:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561081:T:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26561082:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561085:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561088:G:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561094:C:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26561099:A:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561101:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561106:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561113:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561114:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561120:T:C 2,.,. -1 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chr17:26561196:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561199:G:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26561220:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26561244:A:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561262:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561275:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561277:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561295:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561311:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561312:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561314:G:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561343:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26561358:A:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561368:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561440:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561441:T:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561448:T:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561465:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561470:C:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561489:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561491:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561494:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561503:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561510:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561529:T:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561748:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26561767:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26561769:TA:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26561786:G:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561808:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26561827:G:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561829:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26561832:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26561835:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26561848:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26561884:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26561922:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26561955:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561971:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26561973:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26561989:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561990:G:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26561992:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562021:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562036:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562041:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562079:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562080:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562083:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562093:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562095:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562101:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562102:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562106:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562108:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562114:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562119:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562121:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562126:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562133:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562140:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26562163:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562165:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562168:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562170:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562175:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562179:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562180:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562198:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562201:C:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26562202:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562209:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562216:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562217:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562229:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562293:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562294:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562297:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562313:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562314:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562316:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562321:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562343:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562346:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562366:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26562415:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562416:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562420:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562424:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562425:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562428:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562440:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562446:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562476:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562481:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562501:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562509:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562511:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562514:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562520:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562521:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562524:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562526:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562533:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562545:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562554:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562573:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26562576:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562580:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562613:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562623:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562626:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562627:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562640:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562655:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562673:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562690:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562691:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562712:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562729:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562732:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562737:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562742:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562743:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562744:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562750:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562755:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562761:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562762:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562765:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562775:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562783:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562786:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562796:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562804:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26562825:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563073:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563079:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563086:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563091:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563098:G:A 2,.,. -1 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recessive HG002 HG002 chr17:26563513:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563521:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563523:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563526:T:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26563533:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563535:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563629:G:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26563643:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563645:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563652:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr17:26563653:C:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:26563656:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563668:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563669:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563676:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563690:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563695:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563698:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563721:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563734:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563761:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563775:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563776:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563779:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563789:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563791:A:G 2,.,. -1 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recessive HG002 HG002 chr17:26563937:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563961:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26563991:T:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26564012:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564028:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26564029:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564031:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564060:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564075:A:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564085:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564157:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564158:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564165:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564182:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564187:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564206:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564208:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564211:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564220:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564227:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564243:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564246:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564465:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564470:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564486:TA:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564491:G:A 2,.,. -1 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recessive HG002 HG002 chr17:26564832:G:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564837:C:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26564839:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564844:T:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26564851:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564858:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564874:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564881:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564883:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564886:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564888:T:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26564920:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564935:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26564995:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26565008:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26565009:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26565013:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26565016:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26565017:G:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26565032:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26565035:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26565040:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26565062:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26565085:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26565134:G:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26565139:A:C 2,.,. -1 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chr17:26566019:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566024:T:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566033:T:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566040:G:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566048:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26566056:T:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26566060:G:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr17:26566100:G:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566150:C:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566195:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566231:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26566239:G:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26566253:G:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26566267:AT:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26566360:C:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26566369:C:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26566370:C:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr17:26566373:T:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr17:26566437:GA:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566441:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566443:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566476:A:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566490:T:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566491:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566494:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566504:C:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566506:A:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566512:T:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566513:C:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566517:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566519:G:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566525:C:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566530:A:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566532:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566537:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566544:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566551:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26566562:A:G 2,.,. -1 -1 -1 0.000700771 0 2 40,.,. 1,.,. recessive HG002 HG002 chr17:26566574:T:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566576:G:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566579:G:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566586:C:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26566590:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26566591:C:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26566603:A:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566609:T:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566612:G:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566613:G:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr17:26566627:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:26566750:C:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26566751:C:T 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26566758:C:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr17:26569132:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr17:26569141:C:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. recessive HG002 HG002 chr17:26574404:A:G 2,.,. -1 -1 -1 -1 -1 -1 89,.,. 1,.,. recessive HG002 HG002 chr17:26603114:G:A 2,.,. -1 -1 -1 -1 -1 -1 330,.,. 0.984848,.,. recessive HG002 HG002 chr17:26615779:G:A 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:26615793:A:G 2,.,. -1 -1 -1 -1 -1 -1 84,.,. 0.988095,.,. recessive HG002 HG002 chr17:26615826:G:A 2,.,. -1 -1 -1 -1 -1 -1 83,.,. 1,.,. recessive HG002 HG002 chr17:26615839:C:T 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chr17:26615935:A:T 2,.,. -1 -1 -1 -1 -1 -1 66,.,. 1,.,. recessive HG002 HG002 chr17:26843275:A:C 2,.,. -1 -1 -1 0.00525578 4 15 20,.,. 1,.,. recessive HG002 HG002 chr17:26843470:T:C 2,.,. -1 -1 -1 0.00420463 4 12 15,.,. 1,.,. recessive HG002 HG002 chr17:26843743:T:A 2,.,. -1 -1 -1 0.00280308 2 8 15,.,. 1,.,. recessive HG002 HG002 chr17:26843848:A:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26843853:A:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr17:26844254:C:G 2,.,. -1 -1 -1 0.00595655 4 17 17,.,. 1,.,. recessive HG002 HG002 chr17:26844304:A:G 2,.,. 5.61672e-05 0 1 0.00315347 4 9 17,.,. 1,.,. recessive HG002 HG002 chr17:26844789:C:G 2,.,. -1 -1 -1 0.00210231 2 6 12,.,. 1,.,. recessive HG002 HG002 chr17:26845525:A:T 2,.,. -1 -1 -1 0.00280308 0 8 12,.,. 1,.,. recessive HG002 HG002 chr17:26845660:T:C 2,.,. -1 -1 -1 0.00770848 3 22 12,.,. 1,.,. recessive HG002 HG002 chr17:26845685:A:G 2,.,. -1 -1 -1 0.00630694 3 18 12,.,. 1,.,. recessive HG002 HG002 chr17:26845689:A:C 2,.,. -1 -1 -1 0.00350385 0 10 12,.,. 1,.,. recessive HG002 HG002 chr17:26845695:A:G 2,.,. -1 -1 -1 0.00735809 4 21 12,.,. 1,.,. recessive HG002 HG002 chr17:26845729:A:T 2,.,. -1 -1 -1 0.0115627 3 33 12,.,. 1,.,. recessive HG002 HG002 chr17:26845741:G:A 2,.,. -1 -1 -1 0.00595655 0 17 12,.,. 1,.,. dominant HG002 HG002 chr17:26846915:A:C 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.631579,.,. dominant HG002 HG002 chr17:26846997:T:C 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.631579,.,. dominant HG002 HG002 chr17:26847052:T:C 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.631579,.,. recessive HG002 HG002 chr17:26863448:A:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:26863477:G:C 2,.,. 1.05135e-05 0 1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:26863478:A:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr17:26863534:G:A 2,.,. -1 -1 -1 0.00946041 0 27 6,.,. 1,.,. recessive HG002 HG002 chr17:26881697:C:T 2,.,. 2.58679e-05 0 2 -1 -1 -1 129,.,. 0.992248,.,. recessive HG002 HG002 chr17:26881703:A:G 2,.,. -1 -1 -1 -1 -1 -1 127,.,. 0.992126,.,. recessive HG002 HG002 chr17:26881982:G:A 2,.,. 8.73235e-05 0 6 -1 -1 -1 126,.,. 0.992063,.,. recessive HG002 HG002 chr17:26882111:A:G 2,.,. -1 -1 -1 -1 -1 -1 125,.,. 0.992,.,. dominant HG002 HG002 chr17:26961762:G:T 1,.,. -1 -1 -1 0.00105116 0 3 74,.,. 0.486486,.,. dominant HG002 HG002 chr17:27297189:T:C 1,.,. 1.31473e-05 0 2 -1 -1 -1 WSB1 50_intron 34,.,. 0.5,.,. WSB1/intron/;WSB1/non_coding/ 0.0317 0.4525 0.6460 2 recessive HG002 HG002 chr17:27418739:CTCTG:C 2,.,. 0.00341997 0 5 -1 -1 -1 TBC1D3P5 53_non_coding 30,.,. 1,.,. TBC1D3P5/non_coding/ recessive HG002 HG002 chr17:27418748:A:G 2,.,. 0.00536193 0 8 -1 -1 -1 TBC1D3P5 53_non_coding 30,.,. 1,.,. TBC1D3P5/non_coding/ dominant HG002 HG002 chr17:27600617:G:A 1,.,. 2.63089e-05 0 4 -1 -1 -1 KSR1 50_intron 29,.,. 0.37931,.,. KSR1/intron/;KSR1/non_coding/ 0.9922 0.3485 0.4810 1 dominant HG002 HG002 chr17:27661694:GCCAGTCCT:G 1,.,. -1 -1 -1 -1 -1 -1 NOS2P1 53_non_coding 21,.,. 0.619048,.,. NOS2P1/non_coding/ dominant HG002 HG002 chr17:27661703:A:G 1,.,. -1 -1 -1 -1 -1 -1 NOS2P1 53_non_coding 21,.,. 0.666667,.,. NOS2P1/non_coding/ dominant HG002 HG002 chr17:27771211:T:A 1,.,. -1 -1 -1 -1 -1 -1 NOS2 50_intron 24,.,. 0.5,.,. NOS2/intron/ 0.0000 0.7215 0.8580 3 Malaria, susceptibility to dominant HG002 HG002 chr17:27819103:CGCT:C 1,.,. -1 -1 -1 -1 -1 -1 AC005697.1 50_intron 46,.,. 0.608696,.,. AC005697.1/intron/ dominant HG002 HG002 chr17:27819107:A:T 1,.,. -1 -1 -1 -1 -1 -1 AC005697.1 50_intron 46,.,. 0.608696,.,. AC005697.1/intron/ dominant HG002 HG002 chr17:27959808:T:TTTA 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr17:28390919:A:G 1,.,. -1 -1 -1 -1 -1 -1 SARM1 50_intron 37,.,. 0.405405,.,. SARM1/non_coding/;SARM1/intron/ 0.0000 1.1398 1.4130 7 dominant HG002 HG002 chr17:28425166:TTTTG:T 1,.,. 6.26828e-05 0 3 -1 -1 -1 33,.,. 0.363636,.,. dominant HG002 HG002 chr17:28975532:C:T 1,.,. 1.97078e-05 0 3 -1 -1 -1 PIPOX;SEZ6 50_intron 30,.,. 0.466667,.,. PIPOX/non_coding/;SEZ6/intron/ 0.0000;;0.0000 0.8537;;0.5630 1.1080;;0.7080 6;;2 dominant HG002 HG002 chr17:29568662:G:GGGGGCGC 1,.,. -1 -1 -1 -1 -1 -1 TP53I13 35_5_prime_utr 22,.,. 0.5,.,. TP53I13/5_prime_utr/ENST00000581411 0.0000 0.8061 1.1120 6 dominant HG002 HG002 chr17:29731429:A:T 1,.,. -1 -1 -1 -1 -1 -1 SSH2 50_intron 43,.,. 0.395349,.,. SSH2/intron/;SSH2/non_coding/ 1.0000 0.2812 0.3740 0 dominant HG002 HG002 chr17:30097049:C:T 1,.,. -1 -1 -1 -1 -1 -1 EFCAB5 50_intron 28,.,. 0.535714,.,. EFCAB5/intron/ 0.0000 0.7786 0.9080 4 dominant HG002 HG002 chr17:30097054:ATATATAT:A 1,.,. 3.22393e-05 0 2 -1 -1 -1 EFCAB5 50_intron 32,.,. 0.46875,.,. EFCAB5/intron/ 0.0000 0.7786 0.9080 4 recessive HG002 HG002 chr17:31172373:T:C 2,.,. 0.000185132 0 27 -1 -1 -1 NF1 50_intron 47,.,. 1,.,. NF1/intron/ 0.9995 0.3832 0.4490 1 Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome 0.000 dominant HG002 HG002 chr17:31184659:A:T 1,.,. -1 -1 -1 -1 -1 -1 NF1 50_intron 32,.,. 0.65625,.,. NF1/intron/ 0.9995 0.3832 0.4490 1 Neurofibromatosis, type 1;Café-au-lait macules with pulmonary stenosis;Neurofibromatosis, familial spinal;Neurofibromatosis-Noonan syndrome 0.000 dominant HG002 HG002 chr17:31436781:G:T 1,.,. -1 -1 -1 -1 -1 -1 RAB11FIP4 50_intron 38,.,. 0.447368,.,. RAB11FIP4/intron/;RAB11FIP4/non_coding/ 0.8096 0.3781 0.5360 1 dominant HG002 HG002 chr17:31436783:T:G 1,.,. 6.18085e-05 0 2 -1 -1 -1 RAB11FIP4 50_intron 42,.,. 0.404762,.,. RAB11FIP4/intron/;RAB11FIP4/non_coding/ 0.8096 0.3781 0.5360 1 dominant HG002 HG002 chr17:31547323:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr17:31547324:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr17:32200063:A:G 1,.,. 1.32852e-05 0 2 -1 -1 -1 RHOT1 50_intron 42,.,. 0.52381,.,. RHOT1/intron/ 0.4264 0.3992 0.5990 2 dominant HG002 HG002 chr17:32441367:A:G 1,.,. 1.31432e-05 0 2 -1 -1 -1 37,.,. 0.621622,.,. dominant HG002 HG002 chr17:32565723:A:AGT 1,.,. 2.35812e-05 0 3 -1 -1 -1 MYO1D 50_intron 41,.,. 0.390244,.,. MYO1D/intron/;MYO1D/non_coding/ 0.0000 0.6391 0.7870 3 recessive HG002 HG002 chr17:32907991:CCTTAGCCCA:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:32908001:G:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:32908002:A:G 2,.,. 3.69495e-05 0 1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr17:32959731:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr17:33097309:C:G 1,.,. -1 -1 -1 -1 -1 -1 ASIC2 50_intron 35,.,. 0.485714,.,. ASIC2/intron/;ASIC2/non_coding/ 0.1963 0.4174 0.5910 2 dominant HG002 HG002 chr17:33151197:ACACG:A 1,.,. 2.20416e-05 0 3 -1 -1 -1 ASIC2 50_intron 31,.,. 0.548387,.,. ASIC2/intron/;ASIC2/non_coding/ 0.1963 0.4174 0.5910 2 dominant HG002 HG002 chr17:33304318:G:A 1,.,. 1.31404e-05 0 2 -1 -1 -1 ASIC2 50_intron 40,.,. 0.5,.,. ASIC2/intron/ 0.1963 0.4174 0.5910 2 dominant HG002 HG002 chr17:33476552:T:G 1,.,. 1.00446e-05 0 1 -1 -1 -1 ASIC2 50_intron 31,.,. 0.387097,.,. ASIC2/intron/ 0.1963 0.4174 0.5910 2 dominant HG002 HG002 chr17:33519021:CATGTTGGCCAGG:C 1,.,. -1 -1 -1 -1 -1 -1 ASIC2 50_intron 35,.,. 0.628571,.,. ASIC2/intron/ 0.1963 0.4174 0.5910 2 dominant HG002 HG002 chr17:33519034:A:G 1,.,. -1 -1 -1 -1 -1 -1 ASIC2 50_intron 36,.,. 0.611111,.,. ASIC2/intron/ 0.1963 0.4174 0.5910 2 dominant HG002 HG002 chr17:33611115:G:A 1,.,. -1 -1 -1 -1 -1 -1 ASIC2 50_intron 23,.,. 0.434783,.,. ASIC2/intron/ 0.1963 0.4174 0.5910 2 dominant HG002 HG002 chr17:33673261:A:G 1,.,. 6.5735e-06 0 1 -1 -1 -1 ASIC2 50_intron 44,.,. 0.409091,.,. ASIC2/intron/ 0.1963 0.4174 0.5910 2 dominant HG002 HG002 chr17:33868201:G:A 1,.,. -1 -1 -1 -1 -1 -1 ASIC2 50_intron 37,.,. 0.351351,.,. ASIC2/intron/ 0.1963 0.4174 0.5910 2 dominant HG002 HG002 chr17:33886935:AAAAC:A 1,.,. 1.8989e-05 0 2 -1 -1 -1 ASIC2 50_intron 48,.,. 0.395833,.,. ASIC2/intron/ 0.1963 0.4174 0.5910 2 dominant HG002 HG002 chr17:34069321:T:C 1,.,. -1 -1 -1 -1 -1 -1 ASIC2 50_intron 31,.,. 0.354839,.,. ASIC2/intron/ 0.1963 0.4174 0.5910 2 recessive HG002 HG002 chr17:34139583:G:A 2,.,. -1 -1 -1 -1 -1 -1 ASIC2 50_intron 34,.,. 1,.,. ASIC2/intron/ 0.1963 0.4174 0.5910 2 dominant HG002 HG002 chr17:34296206:C:T 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.612245,.,. dominant HG002 HG002 chr17:34380094:T:A 1,.,. 1.97075e-05 0 3 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr17:34550213:A:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr17:34595760:G:A 1,.,. 1.97151e-05 0 3 -1 -1 -1 TMEM132E 50_intron 24,.,. 0.416667,.,. TMEM132E/intron/ 0.0000 0.6830 0.8670 4 Hearing loss, autosomal recessive 99 0.000 dominant HG002 HG002 chr17:34672960:TCATG:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr17:34672967:G:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. dominant HG002 HG002 chr17:34960639:G:C 1,.,. -1 -1 -1 -1 -1 -1 CCT6B 50_intron 43,.,. 0.488372,.,. CCT6B/intron/ 0.0079 0.6421 1.1200 6 dominant HG002 HG002 chr17:35221927:T:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr17:35325594:T:TTGTTTG 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.37931,.,. dominant HG002 HG002 chr17:35388768:T:C 1,.,. 1.97125e-05 0 3 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr17:35455313:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr17:35502502:G:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr17:35617991:CTATGTA:C 1,.,. -1 -1 -1 -1 -1 -1 AP2B1 50_intron 45,.,. 0.466667,.,. AP2B1/intron/;AP2B1/non_coding/ 1.0000 0.1813 0.2750 0 dominant HG002 HG002 chr17:35617999:T:A 1,.,. -1 -1 -1 -1 -1 -1 AP2B1 50_intron 45,.,. 0.466667,.,. AP2B1/intron/;AP2B1/non_coding/ 1.0000 0.1813 0.2750 0 dominant HG002 HG002 chr17:35618000:C:A 1,.,. -1 -1 -1 -1 -1 -1 AP2B1 50_intron 45,.,. 0.466667,.,. AP2B1/intron/;AP2B1/non_coding/ 1.0000 0.1813 0.2750 0 dominant HG002 HG002 chr17:35836305:A:G 1,.,. -1 -1 -1 -1 -1 -1 TAF15 50_intron 40,.,. 0.35,.,. TAF15/non_coding/;TAF15/intron/ 0.9999 0.3307 0.4400 1 Extraskeletal myxoid chondrosarcoma 0.000 dominant HG002 HG002 chr17:35872847:A:T 1,.,. -1 -1 -1 -1 -1 -1 CCL5 50_intron 28,.,. 0.357143,.,. CCL5/intron/ 0.1458 0.5461 1.3870 7 Susceptibility to HIV infection dominant HG002 HG002 chr17:36013541:C:T 1,.,. 1.97171e-05 0 3 -1 -1 -1 CCL23 50_intron 32,.,. 0.53125,.,. CCL23/intron/ 0.0036 0.7859 1.4120 7 dominant HG002 HG002 chr17:36105489:T:C 1,.,. 6.56858e-06 0 1 -1 -1 -1 CCL4 36_3_prime_utr 30,.,. 0.566667,.,. CCL4/3_prime_utr/ENST00000621626;CCL4/3_prime_utr/ENST00000615863 0.0032 0.8042 1.4430 7 recessive HG002 HG002 chr17:36289402:C:A 2,.,. -1 -1 -1 0.0203224 3 58 AC233699.1 53_non_coding 17,.,. 1,.,. AC233699.1/non_coding/ recessive HG002 HG002 chr17:36346353:T:C 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chr17:36448039:G:A 1,.,. 1.66171e-05 1 2 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr17:36517163:G:GT 1,.,. 6.57505e-06 0 1 -1 -1 -1 MYO19 50_intron 38,.,. 0.578947,.,. MYO19/intron/ 0.0000 1.0618 1.2360 6 dominant HG002 HG002 chr17:36629675:G:A 1,.,. 6.5799e-06 0 1 -1 -1 -1 25,.,. 0.6,.,. dominant HG002 HG002 chr17:36911513:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. dominant HG002 HG002 chr17:37180211:T:C 1,.,. 1.97119e-05 0 3 -1 -1 -1 ACACA 50_intron 53,.,. 0.603774,.,. ACACA/intron/;ACACA/non_coding/ 1.0000 0.3129 0.3740 0 Acetyl-CoA: carboxylase deficiency 0.000 dominant HG002 HG002 chr17:37607971:A:AAC 1,.,. 3.83914e-05 0 4 -1 -1 -1 SYNRG 50_intron 30,.,. 0.2,.,. SYNRG/intron/;SYNRG/non_coding/ 1.0000 0.2866 0.3800 0 dominant HG002 HG002 chr17:37688459:G:A 1,.,. 1.33636e-05 0 2 -1 -1 -1 HNF1B 50_intron 31,.,. 0.387097,.,. HNF1B/intron/ 1.0000 0.1326 0.2390 0 Type 2 diabetes mellitus;Renal cysts and diabetes syndrome;Nonpapillary renal cell carcinoma 0.000 dominant HG002 HG002 chr17:37869034:G:A 1,.,. 6.599e-06 0 1 -1 -1 -1 YWHAEP7 53_non_coding 44,.,. 0.409091,.,. YWHAEP7/non_coding/ dominant HG002 HG002 chr17:38339230:G:A 1,.,. 6.57592e-06 0 1 -1 -1 -1 GPR179 50_intron 28,.,. 0.714286,.,. GPR179/intron/ 0.0000 0.7657 0.9650 4 Congenital stationary night blindness 1E 0.000 dominant HG002 HG002 chr17:38415126:G:A 1,.,. 6.57212e-06 0 1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr17:38624861:C:G 1,.,. 6.5716e-06 0 1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr17:38842851:A:ATCTGTCTGTCTG 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.48,.,. dominant HG002 HG002 chr17:38934982:A:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.62069,.,. dominant HG002 HG002 chr17:38973677:T:A 1,.,. 1.34293e-05 0 2 -1 -1 -1 50,.,. 0.62,.,. dominant HG002 HG002 chr17:39118080:C:CCCTT 1,.,. -1 -1 -1 -1 -1 -1 PLXDC1 50_intron 21,.,. 0.714286,.,. PLXDC1/intron/;PLXDC1/non_coding/ 0.0000 0.6304 0.8640 3 dominant HG002 HG002 chr17:39122113:G:C 1,.,. -1 -1 -1 -1 -1 -1 PLXDC1 50_intron 27,.,. 0.296296,.,. PLXDC1/intron/;PLXDC1/non_coding/ 0.0000 0.6304 0.8640 3 dominant HG002 HG002 chr17:39129661:GAAAGAA:G 1,.,. -1 -1 -1 -1 -1 -1 PLXDC1 50_intron 27,.,. 0.481481,.,. PLXDC1/intron/;PLXDC1/non_coding/ 0.0000 0.6304 0.8640 3 dominant HG002 HG002 chr17:39498964:T:C 1,.,. -1 -1 -1 -1 -1 -1 CDK12 50_intron 10,.,. 0.4,.,. CDK12/intron/ 1.0000 0.1367 0.2100 0 dominant HG002 HG002 chr17:39498968:T:C 1,.,. -1 -1 -1 -1 -1 -1 CDK12 50_intron 12,.,. 0.333333,.,. CDK12/intron/ 1.0000 0.1367 0.2100 0 dominant HG002 HG002 chr17:39962911:T:C 1,.,. 1.33456e-05 0 2 -1 -1 -1 GSDMA 50_intron 31,.,. 0.548387,.,. GSDMA/intron/ 0.0000 0.9435 1.2410 7 dominant HG002 HG002 chr17:40246102:T:C 1,.,. -1 -1 -1 -1 -1 -1 WIPF2 50_intron 29,.,. 0.37931,.,. WIPF2/intron/;WIPF2/non_coding/ 0.0211 0.4976 0.7780 3 dominant HG002 HG002 chr17:40262886:T:G 1,.,. 2.62788e-05 0 4 -1 -1 -1 WIPF2 50_intron 26,.,. 0.461538,.,. WIPF2/intron/;WIPF2/non_coding/ 0.0211 0.4976 0.7780 3 dominant HG002 HG002 chr17:40324546:A:G 1,.,. 1.31536e-05 0 2 -1 -1 -1 RARA 50_intron 27,.,. 0.37037,.,. RARA/intron/;RARA/non_coding/ 1.0000 0.1209 0.2540 0 0.000 recessive HG002 HG002 chr17:40847732:T:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:40847733:G:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:40847734:C:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:40847735:C:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr17:40937667:A:G 1,.,. 2.62864e-05 0 4 -1 -1 -1 27,.,. 0.555556,.,. dominant HG002 HG002 chr17:41083421:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr17:41088166:TTTTGGAG:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.321429,.,. recessive HG002 HG002 chr17:41805306:A:C 2,.,. 0.000112667 0 14 0.00911002 0 26 P3H4 50_intron 28,.,. 1,.,. P3H4/intron/;P3H4/non_coding/ 0.0000 0.9210 1.1740 6 dominant HG002 HG002 chr17:42302497:GTACAGAGACATTA:G 1,.,. -1 -1 -1 -1 -1 -1 STAT5A 50_intron 25,.,. 0.6,.,. STAT5A/intron/ 1.0000 0.2625 0.3640 0 dominant HG002 HG002 chr17:42302511:T:A 1,.,. -1 -1 -1 -1 -1 -1 STAT5A 50_intron 25,.,. 0.6,.,. STAT5A/intron/ 1.0000 0.2625 0.3640 0 dominant HG002 HG002 chr17:42334417:G:A 1,.,. 1.33663e-05 0 2 -1 -1 -1 STAT3 50_intron 34,.,. 0.323529,.,. STAT3/intron/ 1.0000 0.0583 0.1090 0 Hyper-IgE recurrent infection syndrome 1, autosomal dominant;STAT3-related early-onset multisystem autoimmune disease 0.000 dominant HG002 HG002 chr17:42545763:GCAATCCCCTTGC:G 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.529412,.,. dominant HG002 HG002 chr17:42545777:T:C 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.529412,.,. recessive HG002 HG002 chr17:43225680:G:A 2,.,. 0.00138039 1 23 0.00140154 0 4 CCDC200 50_intron 15,.,. 1,.,. CCDC200/intron/;CCDC200/non_coding/ dominant HG002 HG002 chr17:43230936:C:T 1,.,. 2.37954e-05 0 2 0.000700771 0 2 CCDC200 50_intron 13,.,. 0.307692,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43261642:T:TGC 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 13,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43261773:A:AC 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 20,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43261774:T:G 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 20,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43261792:G:GC 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 21,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43261830:G:C 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 23,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43261878:G:A 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 27,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43261924:G:GC 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 27,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43261931:G:GC 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 27,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43262281:G:GC 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 50,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43262288:A:AG 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 50,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43262291:A:AC 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 49,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43262546:A:AC 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 62,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43263537:C:T 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 53,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43264065:G:GC 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 76,.,. 0.986842,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43264103:A:AAG 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 77,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43264105:A:C 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 77,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43264106:G:A 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 77,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43291137:T:G 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 153,.,. 1,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43291138:A:C 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 154,.,. 0.993506,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43291140:G:A 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 154,.,. 0.993506,.,. CCDC200/intron/ recessive HG002 HG002 chr17:43291142:A:G 2,.,. -1 -1 -1 -1 -1 -1 CCDC200 50_intron 150,.,. 1,.,. CCDC200/intron/ dominant HG002 HG002 chr17:43449668:C:G 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.3,.,. dominant HG002 HG002 chr17:43570013:G:GCCTGT 1,.,. -1 -1 -1 -1 -1 -1 DHX8;ETV4 50_intron 24,.,. 0.416667,.,. DHX8/intron/;DHX8/non_coding/;ETV4/intron/ 0.0007;;0.0000 0.4465;;0.6350 0.5540;;0.8210 1;;3 dominant HG002 HG002 chr17:43570014:T:A 1,.,. -1 -1 -1 -1 -1 -1 DHX8;ETV4 50_intron 24,.,. 0.416667,.,. DHX8/intron/;DHX8/non_coding/;ETV4/intron/ 0.0007;;0.0000 0.4465;;0.6350 0.5540;;0.8210 1;;3 dominant HG002 HG002 chr17:43622998:T:C 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.541667,.,. dominant HG002 HG002 chr17:43623002:T:TAAATA 1,.,. 6.58276e-06 0 1 -1 -1 -1 23,.,. 0.478261,.,. dominant HG002 HG002 chr17:43675713:T:G 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.56,.,. dominant HG002 HG002 chr17:44606014:G:GATCCA 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.612903,.,. dominant HG002 HG002 chr17:44606015:T:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr17:44609729:C:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.612903,.,. recessive HG002 HG002 chr17:45052004:C:G 2,.,. -1 -1 -1 -1 -1 -1 DCAKD 50_intron 21,.,. 1,.,. DCAKD/intron/ 0.0000 0.7666 1.1640 6 recessive HG002 HG002 chr17:45052005:G:C 2,.,. -1 -1 -1 -1 -1 -1 DCAKD 50_intron 22,.,. 1,.,. DCAKD/intron/ 0.0000 0.7666 1.1640 6 dominant HG002 HG002 chr17:45205998:T:A 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.565217,.,. recessive HG002 HG002 chr17:45471343:GGT:G 2,.,. -1 -1 -1 -1 -1 -1 PLEKHM1 50_intron 35,.,. 1,.,. PLEKHM1/intron/;PLEKHM1/non_coding/ 0.9999 0.3175 0.4330 1 Autosomal recessive osteopetrosis 6;Osteopetrosis, autosomal dominant 3 0.000 recessive HG002 HG002 chr17:45471346:G:T 2,.,. -1 -1 -1 -1 -1 -1 PLEKHM1 50_intron 34,.,. 1,.,. PLEKHM1/intron/;PLEKHM1/non_coding/ 0.9999 0.3175 0.4330 1 Autosomal recessive osteopetrosis 6;Osteopetrosis, autosomal dominant 3 0.000 dominant HG002 HG002 chr17:45482361:A:T 1,.,. -1 -1 -1 -1 -1 -1 PLEKHM1 50_intron 43,.,. 0.44186,.,. PLEKHM1/intron/;PLEKHM1/non_coding/ 0.9999 0.3175 0.4330 1 Autosomal recessive osteopetrosis 6;Osteopetrosis, autosomal dominant 3 0.000 dominant HG002 HG002 chr17:45490912:T:TGAG 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr17:45569442:AATT:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.392857,.,. dominant HG002 HG002 chr17:45638843:G:T 1,.,. -1 -1 -1 0.00105116 0 3 LINC02210;LINC02210-CRHR1 50_intron 36,.,. 0.5,.,. LINC02210/non_coding/;LINC02210-CRHR1/intron/ 0.0081 0.5066 0.7600 3 dominant HG002 HG002 chr17:45692710:AC:A 1,.,. 1.31446e-05 0 2 -1 -1 -1 LINC02210-CRHR1 50_intron 30,.,. 0.533333,.,. LINC02210-CRHR1/intron/;LINC02210-CRHR1/non_coding/ 0.0081 0.5066 0.7600 3 dominant HG002 HG002 chr17:45816404:CCTGCCT:C 1,.,. -1 -1 -1 -1 -1 -1 LINC02210-CRHR1;CRHR1 50_intron 43,.,. 0.465116,.,. LINC02210-CRHR1/intron/;LINC02210-CRHR1/non_coding/;CRHR1/intron/;CRHR1/non_coding/ 0.0081;;0.0042 0.5066;;0.4752 0.7600;;0.6550 3;;2 dominant HG002 HG002 chr17:45816411:G:T 1,.,. -1 -1 -1 -1 -1 -1 LINC02210-CRHR1;CRHR1 50_intron 44,.,. 0.454545,.,. LINC02210-CRHR1/intron/;LINC02210-CRHR1/non_coding/;CRHR1/intron/;CRHR1/non_coding/ 0.0081;;0.0042 0.5066;;0.4752 0.7600;;0.6550 3;;2 dominant HG002 HG002 chr17:45837618:CCAA:C 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.64,.,. dominant HG002 HG002 chr17:45837626:C:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.653846,.,. dominant HG002 HG002 chr17:45856464:G:T 1,.,. 8.87847e-06 0 1 -1 -1 -1 34,.,. 0.705882,.,. dominant HG002 HG002 chr17:45870517:T:G 1,.,. 2.67199e-05 0 3 -1 -1 -1 38,.,. 0.342105,.,. dominant HG002 HG002 chr17:45884332:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.361111,.,. dominant HG002 HG002 chr17:45911791:A:G 1,.,. -1 -1 -1 -1 -1 -1 MAPT 50_intron 21,.,. 0.47619,.,. MAPT/intron/;MAPT/non_coding/ 0.0000 0.5409 0.7230 2 Pick disease;Supranuclear palsy, progressive, 1;Progressive supranuclear palsy-parkinsonism syndrome;Parkinson disease, late-onset 0.000 dominant HG002 HG002 chr17:45956604:T:A 1,.,. -1 -1 -1 0.000700771 0 2 MAPT 50_intron 34,.,. 0.647059,.,. MAPT/intron/;MAPT/non_coding/ 0.0000 0.5409 0.7230 2 Pick disease;Supranuclear palsy, progressive, 1;Progressive supranuclear palsy-parkinsonism syndrome;Parkinson disease, late-onset 0.000 dominant HG002 HG002 chr17:46064073:A:C 1,.,. -1 -1 -1 -1 -1 -1 KANSL1 50_intron 49,.,. 0.612245,.,. KANSL1/intron/;KANSL1/non_coding/ 1.0000 0.2254 0.3250 0 Koolen-de Vries syndrome 0.000 dominant HG002 HG002 chr17:46086182:CGCAG:C 1,.,. -1 -1 -1 -1 -1 -1 KANSL1 50_intron 41,.,. 0.365854,.,. KANSL1/intron/;KANSL1/non_coding/ 1.0000 0.2254 0.3250 0 Koolen-de Vries syndrome 0.000 dominant HG002 HG002 chr17:46086187:T:A 1,.,. -1 -1 -1 -1 -1 -1 KANSL1 50_intron 40,.,. 0.375,.,. KANSL1/intron/;KANSL1/non_coding/ 1.0000 0.2254 0.3250 0 Koolen-de Vries syndrome 0.000 dominant HG002 HG002 chr17:46183574:A:G 1,.,. 1.81071e-05 0 2 -1 -1 -1 KANSL1 50_intron 52,.,. 0.673077,.,. KANSL1/intron/;KANSL1/non_coding/ 1.0000 0.2254 0.3250 0 Koolen-de Vries syndrome 0.000 recessive HG002 HG002 chr17:46478642:C:A 2,.,. -1 -1 -1 -1 -1 -1 NSFP1 53_non_coding 17,.,. 1,.,. NSFP1/non_coding/ dominant HG002 HG002 chr17:46811289:T:A 1,.,. -1 -1 -1 -1 -1 -1 WNT3 50_intron 20,.,. 0.4,.,. WNT3/intron/;WNT3/non_coding/ 0.9998 0.1952 0.3670 0 Tetraamelia syndrome 1 0.000 dominant HG002 HG002 chr17:46886043:CA:C 1,.,. -1 -1 -1 -1 -1 -1 WNT9B 36_3_prime_utr 26,.,. 0.615385,.,. WNT9B/3_prime_utr/ENST00000393461 0.2281 0.4218 0.6830 2 0.000 dominant HG002 HG002 chr17:47194605:T:C 1,.,. 1.97163e-05 0 3 -1 -1 -1 29,.,. 0.310345,.,. dominant HG002 HG002 chr17:47379150:GA:G 1,.,. 6.57091e-06 0 1 -1 -1 -1 EFCAB13 50_intron 45,.,. 0.533333,.,. EFCAB13/intron/;EFCAB13/non_coding/ 0.0000 0.7489 0.9530 4 recessive HG002 HG002 chr17:47529946:A:T 2,.,. -1 -1 -1 -1 -1 -1 NPEPPS 50_intron 23,.,. 1,.,. NPEPPS/intron/;NPEPPS/non_coding/ 1.0000 0.1880 0.2990 0 recessive HG002 HG002 chr17:47529950:A:T 2,.,. 0.00215045 4 100 0.00595655 0 17 NPEPPS 50_intron 24,.,. 1,.,. NPEPPS/intron/;NPEPPS/non_coding/ 1.0000 0.1880 0.2990 0 recessive HG002 HG002 chr17:48665853:G:GTTTTGATTATTGAT 2,.,. 6.62937e-06 0 1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr17:48665855:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr17:49096657:T:C 1,.,. 6.57315e-06 0 1 -1 -1 -1 33,.,. 0.575758,.,. recessive HG002 HG002 chr17:49118246:A:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:49118247:A:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr17:49118248:C:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr17:49437216:A:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.62069,.,. dominant HG002 HG002 chr17:49504761:C:T 1,.,. -1 -1 -1 -1 -1 -1 NGFR 50_intron 23,.,. 0.391304,.,. NGFR/intron/ 0.0000 0.8187 1.1110 6 dominant HG002 HG002 chr17:49923116:C:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.461538,.,. dominant HG002 HG002 chr17:49969338:G:C 1,.,. 2.62778e-05 0 4 -1 -1 -1 DLX4 35_5_prime_utr 28,.,. 0.571429,.,. DLX4/5_prime_utr/ENST00000240306 0.0005 0.6758 1.0560 5 Orofacial cleft 15 0.000 recessive HG002 HG002 chr17:50024525:G:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chr17:50068819:T:A 1,.,. -1 -1 -1 -1 -1 -1 ITGA3 50_intron 26,.,. 0.615385,.,. ITGA3/intron/;ITGA3/non_coding/ 0.0000 0.5603 0.6900 2 Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 0.000 dominant HG002 HG002 chr17:50133491:T:C 1,.,. 1.31435e-05 0 2 -1 -1 -1 25,.,. 0.48,.,. dominant HG002 HG002 chr17:50307732:G:C 1,.,. 6.57488e-06 0 1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr17:50765831:GTGGGGCTGGTCT:G 1,.,. -1 -1 -1 -1 -1 -1 ANKRD40CL 50_intron 33,.,. 0.636364,.,. ANKRD40CL/non_coding/;ANKRD40CL/intron/ dominant HG002 HG002 chr17:50765845:G:T 1,.,. -1 -1 -1 -1 -1 -1 ANKRD40CL 50_intron 32,.,. 0.625,.,. ANKRD40CL/non_coding/;ANKRD40CL/intron/ dominant HG002 HG002 chr17:50765847:T:G 1,.,. -1 -1 -1 -1 -1 -1 ANKRD40CL 50_intron 33,.,. 0.636364,.,. ANKRD40CL/non_coding/;ANKRD40CL/intron/ dominant HG002 HG002 chr17:50775128:C:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr17:50775129:A:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr17:50775130:C:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr17:51374465:CCAG:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr17:51442424:C:CTTGGCTCTTTCCTGGATCTGTCACATTCTCTTTGCTAAGCACCAAGAGGCAAT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.594595,.,. recessive HG002 HG002 chr17:52052301:A:T 2,.,. -1 -1 -1 0.00140154 0 4 CA10 50_intron 14,.,. 1,.,. CA10/intron/;CA10/non_coding/ 0.2946 0.4122 0.6820 2 dominant HG002 HG002 chr17:52130939:T:C 1,.,. 6.57125e-06 0 1 -1 -1 -1 CA10 50_intron 35,.,. 0.314286,.,. CA10/intron/;CA10/non_coding/ 0.2946 0.4122 0.6820 2 dominant HG002 HG002 chr17:52335740:C:CTCTT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr17:52532237:C:T 1,.,. 1.32092e-05 0 2 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr17:52783191:T:TTTG 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr17:53048239:AGT:A 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.315789,.,. dominant HG002 HG002 chr17:53048244:A:T 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.315789,.,. dominant HG002 HG002 chr17:53139401:G:T 1,.,. 4.51549e-05 0 1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr17:54052297:T:A 1,.,. -1 -1 -1 0.00105116 0 3 53,.,. 0.490566,.,. dominant HG002 HG002 chr17:54055753:AACCTGATTATCCTG:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr17:54055769:T:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr17:54500453:C:G 1,.,. -1 -1 -1 0.000700771 0 2 37,.,. 0.513514,.,. dominant HG002 HG002 chr17:54500454:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr17:54874524:AAC:A 1,.,. 2.13211e-05 0 2 -1 -1 -1 35,.,. 0.314286,.,. dominant HG002 HG002 chr17:54874527:A:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.352941,.,. dominant HG002 HG002 chr17:55492243:T:TTTC 1,.,. 5.57082e-05 0 3 0.000700771 0 2 SMIM36 50_intron 32,.,. 0.4375,.,. SMIM36/intron/;SMIM36/non_coding/ dominant HG002 HG002 chr17:55561525:G:A 1,.,. 6.57004e-06 0 1 -1 -1 -1 AC105021.1 53_non_coding 29,.,. 0.482759,.,. AC105021.1/non_coding/ dominant HG002 HG002 chr17:55830044:ATTAC:A 1,.,. -1 -1 -1 -1 -1 -1 PCTP 53_non_coding 36,.,. 0.527778,.,. PCTP/non_coding/ 0.0000 1.0186 1.5080 8 dominant HG002 HG002 chr17:56190175:T:C 1,.,. -1 -1 -1 0.000700771 0 2 ANKFN1 50_intron 48,.,. 0.458333,.,. ANKFN1/intron/;ANKFN1/non_coding/ 0.0000 0.5963 0.7410 3 dominant HG002 HG002 chr17:56887831:C:T 1,.,. 6.57134e-06 0 1 -1 -1 -1 TRIM25 50_intron 31,.,. 0.516129,.,. TRIM25/intron/ 0.0000 0.7185 0.9210 4 recessive HG002 HG002 chr17:57220414:A:ACT 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:57220415:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr17:57239575:GGT:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr17:57239578:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr17:57408920:A:G 1,.,. -1 -1 -1 -1 -1 -1 MSI2 50_intron 45,.,. 0.422222,.,. MSI2/intron/;MSI2/non_coding/ 0.3330 0.4068 0.6470 2 dominant HG002 HG002 chr17:57450253:C:CAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAA 1,.,. -1 -1 -1 -1 -1 -1 MSI2 50_intron 33,.,. 0.393939,.,. MSI2/intron/;MSI2/non_coding/ 0.3330 0.4068 0.6470 2 dominant HG002 HG002 chr17:57851705:A:ACACGCACG 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.526316,.,. dominant HG002 HG002 chr17:58332289:T:G 1,.,. 6.57289e-06 0 1 -1 -1 -1 25,.,. 0.44,.,. dominant HG002 HG002 chr17:58332296:T:A 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.44,.,. dominant HG002 HG002 chr17:58964373:T:A 1,.,. 2.6285e-05 0 4 -1 -1 -1 PPM1E 50_intron 38,.,. 0.526316,.,. PPM1E/intron/ 0.9939 0.3321 0.4780 1 dominant HG002 HG002 chr17:59103181:CAGAA:C 1,.,. 2.63154e-05 0 4 -1 -1 -1 TRIM37 50_intron 41,.,. 0.560976,.,. TRIM37/intron/;TRIM37/non_coding/ 0.0000 0.6493 0.7890 3 Mulibrey nanism syndrome 0.000 dominant HG002 HG002 chr17:59184067:C:T 1,.,. 1.31503e-05 0 2 -1 -1 -1 PRR11 50_intron 34,.,. 0.705882,.,. PRR11/intron/;PRR11/non_coding/ 0.0000 0.7006 0.9550 4 dominant HG002 HG002 chr17:59473680:G:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.351351,.,. dominant HG002 HG002 chr17:59578992:A:G 1,.,. -1 -1 -1 -1 -1 -1 DHX40 50_intron 38,.,. 0.578947,.,. DHX40/intron/ 0.2769 0.4102 0.5690 1 dominant HG002 HG002 chr17:59711419:AACT:A 1,.,. -1 -1 -1 -1 -1 -1 VMP1 50_intron 40,.,. 0.375,.,. VMP1/intron/;VMP1/non_coding/ 1.0000 0.0841 0.1920 0 dominant HG002 HG002 chr17:59711423:C:T 1,.,. -1 -1 -1 -1 -1 -1 VMP1 50_intron 40,.,. 0.375,.,. VMP1/intron/;VMP1/non_coding/ 1.0000 0.0841 0.1920 0 dominant HG002 HG002 chr17:59992664:A:C 1,.,. -1 -1 -1 -1 -1 -1 DHX40P1 53_non_coding 39,.,. 0.435897,.,. DHX40P1/non_coding/ recessive HG002 HG002 chr17:60449945:C:T 2,.,. -1 -1 -1 -1 -1 -1 APPBP2 50_intron 41,.,. 1,.,. APPBP2/intron/ 1.0000 0.2053 0.3400 0 recessive HG002 HG002 chr17:60449946:T:G 2,.,. -1 -1 -1 -1 -1 -1 APPBP2 50_intron 42,.,. 1,.,. APPBP2/intron/ 1.0000 0.2053 0.3400 0 recessive HG002 HG002 chr17:60449947:G:C 2,.,. -1 -1 -1 -1 -1 -1 APPBP2 50_intron 42,.,. 1,.,. APPBP2/intron/ 1.0000 0.2053 0.3400 0 dominant HG002 HG002 chr17:61116262:A:AAATC 1,.,. -1 -1 -1 -1 -1 -1 BCAS3 50_intron 41,.,. 0.487805,.,. BCAS3/intron/;BCAS3/non_coding/ 0.0088 0.4441 0.5800 1 Hengel-Maroofian-Schols syndrome 0.000 dominant HG002 HG002 chr17:61644714:G:GA 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. recessive HG002 HG002 chr17:61992846:T:G 2,.,. -1 -1 -1 -1 -1 -1 MED13 50_intron 36,.,. 1,.,. MED13/intron/ 1.0000 0.0869 0.1300 0 Intellectual developmental disorder 61 0.000 recessive HG002 HG002 chr17:61992847:G:C 2,.,. -1 -1 -1 -1 -1 -1 MED13 50_intron 36,.,. 1,.,. MED13/intron/ 1.0000 0.0869 0.1300 0 Intellectual developmental disorder 61 0.000 recessive HG002 HG002 chr17:61992848:C:A 2,.,. -1 -1 -1 -1 -1 -1 MED13 50_intron 36,.,. 1,.,. MED13/intron/ 1.0000 0.0869 0.1300 0 Intellectual developmental disorder 61 0.000 dominant HG002 HG002 chr17:62007033:AGATCAAGACCATCCTG:A 1,.,. -1 -1 -1 -1 -1 -1 MED13 50_intron 45,.,. 0.4,.,. MED13/intron/ 1.0000 0.0869 0.1300 0 Intellectual developmental disorder 61 0.000 dominant HG002 HG002 chr17:62512859:T:TTTATTATTA 1,.,. -1 -1 -1 -1 -1 -1 TLK2 50_intron 33,.,. 0.393939,.,. TLK2/intron/ 1.0000 0.0449 0.1030 0 Intellectual disability, autosomal dominant 57 0.000 dominant HG002 HG002 chr17:62645536:T:A 1,.,. -1 -1 -1 -1 -1 -1 MRC2 50_intron 33,.,. 0.393939,.,. MRC2/intron/;MRC2/non_coding/ 0.0025 0.4287 0.5140 1 dominant HG002 HG002 chr17:62831958:A:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr17:63537755:GTA:G 1,.,. -1 -1 -1 -1 -1 -1 KCNH6 50_intron 28,.,. 0.392857,.,. KCNH6/intron/ 0.0000 0.9485 1.1400 6 dominant HG002 HG002 chr17:63537758:T:A 1,.,. -1 -1 -1 -1 -1 -1 KCNH6 50_intron 28,.,. 0.392857,.,. KCNH6/intron/ 0.0000 0.9485 1.1400 6 dominant HG002 HG002 chr17:63850009:A:AGTTTG 1,.,. -1 -1 -1 -1 -1 -1 TCAM1P 53_non_coding 34,.,. 0.558824,.,. TCAM1P/non_coding/ dominant HG002 HG002 chr17:63850012:C:G 1,.,. -1 -1 -1 -1 -1 -1 TCAM1P 53_non_coding 34,.,. 0.558824,.,. TCAM1P/non_coding/ dominant HG002 HG002 chr17:63850013:T:A 1,.,. -1 -1 -1 -1 -1 -1 TCAM1P 53_non_coding 34,.,. 0.558824,.,. TCAM1P/non_coding/ recessive HG002 HG002 chr17:64181110:T:TTTAA 2,.,. -1 -1 -1 -1 -1 -1 TEX2 50_intron 43,.,. 1,.,. TEX2/intron/;TEX2/non_coding/ 0.0000 0.4816 0.6070 2 recessive HG002 HG002 chr17:64181112:A:T 2,.,. -1 -1 -1 -1 -1 -1 TEX2 50_intron 44,.,. 1,.,. TEX2/intron/;TEX2/non_coding/ 0.0000 0.4816 0.6070 2 dominant HG002 HG002 chr17:64740786:C:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr17:64764347:TATAA:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.421053,.,. recessive HG002 HG002 chr17:64817143:GGGT:G 2,.,. -1 -1 -1 -1 -1 -1 PLEKHM1P1 53_non_coding 23,.,. 1,.,. PLEKHM1P1/non_coding/ recessive HG002 HG002 chr17:64817147:G:T 2,.,. -1 -1 -1 -1 -1 -1 PLEKHM1P1 53_non_coding 23,.,. 1,.,. PLEKHM1P1/non_coding/ recessive HG002 HG002 chr17:64908528:CCT:C 2,.,. -1 -1 -1 -1 -1 -1 LRRC37A3 50_intron 32,.,. 1,.,. LRRC37A3/intron/ 0.9941 0.3319 0.4780 1 recessive HG002 HG002 chr17:64908533:G:T 2,.,. -1 -1 -1 -1 -1 -1 LRRC37A3 50_intron 32,.,. 1,.,. LRRC37A3/intron/ 0.9941 0.3319 0.4780 1 dominant HG002 HG002 chr17:64970585:A:G 1,.,. -1 -1 -1 -1 -1 -1 AMZ2P1 53_non_coding 31,.,. 0.580645,.,. AMZ2P1/non_coding/ dominant HG002 HG002 chr17:65735544:AATGTACTT:A 1,.,. -1 -1 -1 -1 -1 -1 CEP112 50_intron 40,.,. 0.25,.,. CEP112/intron/;CEP112/non_coding/ 0.0000 0.7251 0.9100 4 Spermatogenic failure 44 0.000 dominant HG002 HG002 chr17:65735554:A:C 1,.,. -1 -1 -1 -1 -1 -1 CEP112 50_intron 40,.,. 0.275,.,. CEP112/intron/;CEP112/non_coding/ 0.0000 0.7251 0.9100 4 Spermatogenic failure 44 0.000 dominant HG002 HG002 chr17:65735558:CCTGAT:C 1,.,. -1 -1 -1 -1 -1 -1 CEP112 50_intron 40,.,. 0.275,.,. CEP112/intron/;CEP112/non_coding/ 0.0000 0.7251 0.9100 4 Spermatogenic failure 44 0.000 dominant HG002 HG002 chr17:65735565:A:C 1,.,. -1 -1 -1 -1 -1 -1 CEP112 50_intron 39,.,. 0.282051,.,. CEP112/intron/;CEP112/non_coding/ 0.0000 0.7251 0.9100 4 Spermatogenic failure 44 0.000 dominant HG002 HG002 chr17:65735567:C:A 1,.,. -1 -1 -1 -1 -1 -1 CEP112 50_intron 40,.,. 0.275,.,. CEP112/intron/;CEP112/non_coding/ 0.0000 0.7251 0.9100 4 Spermatogenic failure 44 0.000 dominant HG002 HG002 chr17:65964704:A:T 1,.,. -1 -1 -1 -1 -1 -1 CEP112 50_intron 42,.,. 0.595238,.,. CEP112/intron/ 0.0000 0.7251 0.9100 4 Spermatogenic failure 44 0.000 dominant HG002 HG002 chr17:65964705:GGGTGCT:G 1,.,. -1 -1 -1 -1 -1 -1 CEP112 50_intron 42,.,. 0.595238,.,. CEP112/intron/ 0.0000 0.7251 0.9100 4 Spermatogenic failure 44 0.000 dominant HG002 HG002 chr17:66019325:C:A 1,.,. -1 -1 -1 -1 -1 -1 CEP112 50_intron 46,.,. 0.565217,.,. CEP112/intron/ 0.0000 0.7251 0.9100 4 Spermatogenic failure 44 0.000 dominant HG002 HG002 chr17:66588671:C:T 1,.,. -1 -1 -1 -1 -1 -1 PRKCA 50_intron 36,.,. 0.527778,.,. PRKCA/intron/ 1.0000 0.2802 0.3970 0 dominant HG002 HG002 chr17:66591742:G:T 1,.,. 1.31451e-05 0 2 -1 -1 -1 PRKCA 50_intron 38,.,. 0.5,.,. PRKCA/intron/ 1.0000 0.2802 0.3970 0 dominant HG002 HG002 chr17:66654410:T:TATC 1,.,. -1 -1 -1 -1 -1 -1 PRKCA 50_intron 26,.,. 0.423077,.,. PRKCA/intron/ 1.0000 0.2802 0.3970 0 dominant HG002 HG002 chr17:66803575:G:A 1,.,. 2.62874e-05 0 4 -1 -1 -1 PRKCA 50_intron 21,.,. 0.52381,.,. PRKCA/intron/ 1.0000 0.2802 0.3970 0 dominant HG002 HG002 chr17:67048327:A:C 1,.,. -1 -1 -1 -1 -1 -1 CACNG1 50_intron 31,.,. 0.387097,.,. CACNG1/intron/ 0.0000 0.9070 1.3180 7 recessive HG002 HG002 chr17:67099398:GTGA:G 2,.,. -1 -1 -1 -1 -1 -1 HELZ 50_intron 58,.,. 1,.,. HELZ/intron/ 1.0000 0.1080 0.1600 0 recessive HG002 HG002 chr17:67099402:A:G 2,.,. 0.00418994 0 3 -1 -1 -1 HELZ 50_intron 59,.,. 1,.,. HELZ/intron/ 1.0000 0.1080 0.1600 0 dominant HG002 HG002 chr17:67143620:G:GA 1,.,. -1 -1 -1 0.00140154 0 4 HELZ 50_intron 48,.,. 0.5,.,. HELZ/intron/ 1.0000 0.1080 0.1600 0 dominant HG002 HG002 chr17:67431062:C:T 1,.,. -1 -1 -1 -1 -1 -1 PITPNC1 50_intron 27,.,. 0.518519,.,. PITPNC1/intron/ 0.7554 0.3132 0.6590 2 recessive HG002 HG002 chr17:67944924:A:AGTG 2,.,. -1 -1 -1 -1 -1 -1 BPTF 50_intron 31,.,. 1,.,. BPTF/intron/;BPTF/non_coding/ 1.0000 0.0595 0.0900 0 Kaposi sarcoma, susceptibility to;Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0.000 recessive HG002 HG002 chr17:67944926:G:A 2,.,. -1 -1 -1 -1 -1 -1 BPTF 50_intron 31,.,. 1,.,. BPTF/intron/;BPTF/non_coding/ 1.0000 0.0595 0.0900 0 Kaposi sarcoma, susceptibility to;Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0.000 recessive HG002 HG002 chr17:68034430:G:GGCT 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:68034434:T:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr17:68062664:A:T 2,.,. 0.00127078 1 187 0.00420463 0 12 34,.,. 1,.,. dominant HG002 HG002 chr17:68215545:CTCTG:C 1,.,. -1 -1 -1 -1 -1 -1 AMZ2 50_intron 31,.,. 0.645161,.,. AMZ2/intron/ 0.0000 0.7137 1.0040 5 dominant HG002 HG002 chr17:68215558:C:CAAAAAAAAAAAAA 1,.,. -1 -1 -1 -1 -1 -1 AMZ2 50_intron 20,.,. 0.55,.,. AMZ2/intron/ 0.0000 0.7137 1.0040 5 recessive HG002 HG002 chr17:68231636:T:G 2,.,. -1 -1 -1 -1 -1 -1 AMZ2 50_intron 36,.,. 1,.,. AMZ2/intron/ 0.0000 0.7137 1.0040 5 dominant HG002 HG002 chr17:68554035:C:CATATGCATAT 1,.,. -1 -1 -1 -1 -1 -1 FAM20A 50_intron 27,.,. 0.555556,.,. FAM20A/non_coding/;FAM20A/intron/ 0.0000 0.8510 1.1080 6 Amelogenesis imperfecta type 1G 0.000 dominant HG002 HG002 chr17:68580008:T:A 1,.,. -1 -1 -1 -1 -1 -1 FAM20A 50_intron 35,.,. 0.485714,.,. FAM20A/intron/ 0.0000 0.8510 1.1080 6 Amelogenesis imperfecta type 1G 0.000 dominant HG002 HG002 chr17:68580009:T:TTAA 1,.,. -1 -1 -1 -1 -1 -1 FAM20A 50_intron 35,.,. 0.485714,.,. FAM20A/intron/ 0.0000 0.8510 1.1080 6 Amelogenesis imperfecta type 1G 0.000 dominant HG002 HG002 chr17:68612554:T:C 1,.,. 6.56263e-06 0 1 -1 -1 -1 37,.,. 0.648649,.,. dominant HG002 HG002 chr17:68675319:T:C 1,.,. 6.56401e-06 0 1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr17:68698266:A:T 1,.,. -1 -1 -1 -1 -1 -1 AC011591.2 53_non_coding 41,.,. 0.585366,.,. AC011591.2/non_coding/ dominant HG002 HG002 chr17:69368824:TAAGA:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr17:69368831:A:G 1,.,. 1.45421e-05 0 1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr17:69564392:G:A 1,.,. 2.6295e-05 0 4 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr17:69587232:CTT:C 1,.,. 6.5716e-06 0 1 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr17:69615630:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.325,.,. dominant HG002 HG002 chr17:69774251:ATATGGAATAT:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr17:69774262:G:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr17:70099369:A:C 1,.,. -1 -1 -1 -1 -1 -1 KCNJ16 50_intron 44,.,. 0.454545,.,. KCNJ16/intron/;KCNJ16/non_coding/ 0.0000 0.7962 1.1570 6 Hypokalemic tubulopathy and deafness 0.000 dominant HG002 HG002 chr17:70594960:G:T 1,.,. 2.6373e-05 0 4 -1 -1 -1 33,.,. 0.545455,.,. dominant HG002 HG002 chr17:70688133:G:A 1,.,. 2.63075e-05 0 4 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr17:71069706:T:C 1,.,. 1.97104e-05 0 3 -1 -1 -1 40,.,. 0.325,.,. dominant HG002 HG002 chr17:71131938:G:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr17:71224260:A:G 1,.,. 2.6266e-05 0 4 -1 -1 -1 59,.,. 0.491525,.,. dominant HG002 HG002 chr17:71361405:A:G 1,.,. 2.6274e-05 0 4 -1 -1 -1 41,.,. 0.414634,.,. dominant HG002 HG002 chr17:71608156:T:C 1,.,. 3.5548e-05 0 4 -1 -1 -1 46,.,. 0.413043,.,. dominant HG002 HG002 chr17:72004858:TTTTTTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.333333,.,. dominant HG002 HG002 chr17:72004873:T:C 1,.,. 1.45016e-05 0 1 -1 -1 -1 42,.,. 0.357143,.,. dominant HG002 HG002 chr17:72266830:GGGCTGTGACA:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.615385,.,. dominant HG002 HG002 chr17:72266843:GGTATCCAC:G 1,.,. 0.000166389 0 1 -1 -1 -1 39,.,. 0.615385,.,. dominant HG002 HG002 chr17:72266855:TATCCACAC:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.615385,.,. dominant HG002 HG002 chr17:72503248:T:C 1,.,. 2.62919e-05 0 4 -1 -1 -1 33,.,. 0.636364,.,. recessive HG002 HG002 chr17:72689424:CAGCAATTCCACTCCTG:C 2,.,. 6.57713e-06 0 1 -1 -1 -1 SLC39A11 50_intron 23,.,. 1,.,. SLC39A11/intron/;SLC39A11/non_coding/ 0.0000 0.9239 1.2470 7 recessive HG002 HG002 chr17:72689441:G:T 2,.,. -1 -1 -1 -1 -1 -1 SLC39A11 50_intron 23,.,. 1,.,. SLC39A11/intron/;SLC39A11/non_coding/ 0.0000 0.9239 1.2470 7 dominant HG002 HG002 chr17:72809204:T:C 1,.,. -1 -1 -1 -1 -1 -1 SLC39A11 50_intron 21,.,. 0.52381,.,. SLC39A11/intron/ 0.0000 0.9239 1.2470 7 dominant HG002 HG002 chr17:73133232:A:AAGAG 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.28,.,. dominant HG002 HG002 chr17:73617211:AGGAGGGGAGAGGGCTCCCGCAGAGG:A 1,.,. 1.29279e-05 0 1 -1 -1 -1 SDK2 50_intron 16,.,. 0.5625,.,. SDK2/intron/ 0.0000 0.4699 0.5540 1 dominant HG002 HG002 chr17:73617254:T:C 1,.,. 1.12375e-05 0 1 -1 -1 -1 SDK2 50_intron 16,.,. 0.625,.,. SDK2/intron/ 0.0000 0.4699 0.5540 1 dominant HG002 HG002 chr17:74054847:TTGTTTCCCTCTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.666667,.,. dominant HG002 HG002 chr17:74054864:C:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.666667,.,. dominant HG002 HG002 chr17:74997053:TTTCTTTCTTTCTTTCTTTCTTTCTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 CDR2L 50_intron 26,.,. 0.384615,.,. CDR2L/intron/ 0.0000 1.1764 1.6010 8 dominant HG002 HG002 chr17:75137435:TAGCCTCAAA:T 1,.,. -1 -1 -1 -1 -1 -1 JPT1 50_intron 33,.,. 0.454545,.,. JPT1/intron/;JPT1/non_coding/ 0.6268 0.3249 0.7430 3 dominant HG002 HG002 chr17:75137445:C:T 1,.,. -1 -1 -1 -1 -1 -1 JPT1 50_intron 33,.,. 0.454545,.,. JPT1/intron/;JPT1/non_coding/ 0.6268 0.3249 0.7430 3 recessive HG002 HG002 chr17:75337904:T:C 2,.,. 0.0080188 4 829 0.0157673 0 45 GRB2 50_intron 34,.,. 1,.,. GRB2/intron/ 0.9999 0.0455 0.2160 0 dominant HG002 HG002 chr17:75553541:CA:C 1,.,. -1 -1 -1 -1 -1 -1 LLGL2 50_intron 38,.,. 0.5,.,. LLGL2/intron/ 0.0000 0.6799 0.8160 3 dominant HG002 HG002 chr17:75743357:C:T 1,.,. 6.57168e-06 0 1 -1 -1 -1 ITGB4 50_intron 17,.,. 0.764706,.,. ITGB4/intron/;ITGB4/non_coding/ 0.0000 0.7540 0.8600 3 Junctional epidermolysis bullosa with pyloric atresia;Epidermolysis bullosa, junctional 5A, intermediate 0.000 dominant HG002 HG002 chr17:76451777:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 UBE2O 50_intron 29,.,. 0.448276,.,. UBE2O/intron/;UBE2O/non_coding/ 1.0000 0.1253 0.1930 0 dominant HG002 HG002 chr17:76549356:G:A 1,.,. 2.62826e-05 0 4 -1 -1 -1 PRCD;CYGB 50_intron 25,.,. 0.56,.,. PRCD/non_coding/;CYGB/intron/ 0.0000;;0.0010 1.2430;;0.6648 1.8410;;1.0570 9;;5 Retinitis pigmentosa 36 0.000 dominant HG002 HG002 chr17:76580721:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 ST6GALNAC2 50_intron 30,.,. 0.566667,.,. ST6GALNAC2/intron/;ST6GALNAC2/non_coding/ 0.0000 1.1507 1.5190 8 dominant HG002 HG002 chr17:76580728:A:C 1,.,. -1 -1 -1 -1 -1 -1 ST6GALNAC2 50_intron 30,.,. 0.566667,.,. ST6GALNAC2/intron/;ST6GALNAC2/non_coding/ 0.0000 1.1507 1.5190 8 recessive HG002 HG002 chr17:76584029:C:A 2,.,. -1 -1 -1 -1 -1 -1 ST6GALNAC2 50_intron 32,.,. 1,.,. ST6GALNAC2/intron/;ST6GALNAC2/non_coding/ 0.0000 1.1507 1.5190 8 dominant HG002 HG002 chr17:77014681:AAAT:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr17:77014686:C:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr17:77245812:CGTATGT:C 1,.,. -1 -1 -1 0.00140154 0 4 33,.,. 0.454545,.,. dominant HG002 HG002 chr17:78418560:T:C 1,.,. -1 -1 -1 -1 -1 -1 PGS1 50_intron 28,.,. 0.571429,.,. PGS1/intron/;PGS1/non_coding/ 0.0000 0.7663 0.9980 5 dominant HG002 HG002 chr17:78432909:C:A 1,.,. -1 -1 -1 -1 -1 -1 DNAH17 50_intron 22,.,. 0.409091,.,. DNAH17/intron/;DNAH17/non_coding/ 0.0000 0.7884 0.8590 3 Spermatogenic failure 39 0.000 recessive HG002 HG002 chr17:78480013:CTTTTTTTTTTTTTTT:C 2,.,. -1 -1 -1 0.0175193 1 50 DNAH17 50_intron 18,.,. 1,.,. DNAH17/intron/;DNAH17/non_coding/ 0.0000 0.7884 0.8590 3 Spermatogenic failure 39 0.000 dominant HG002 HG002 chr17:78563773:AAC:A 1,.,. -1 -1 -1 -1 -1 -1 DNAH17 50_intron 31,.,. 0.451613,.,. DNAH17/intron/;DNAH17/non_coding/ 0.0000 0.7884 0.8590 3 Spermatogenic failure 39 0.000 dominant HG002 HG002 chr17:78563776:A:C 1,.,. -1 -1 -1 -1 -1 -1 DNAH17 50_intron 32,.,. 0.4375,.,. DNAH17/intron/;DNAH17/non_coding/ 0.0000 0.7884 0.8590 3 Spermatogenic failure 39 0.000 dominant HG002 HG002 chr17:78813270:A:AGAGAC 1,.,. -1 -1 -1 -1 -1 -1 USP36 50_intron 33,.,. 0.424242,.,. USP36/intron/;USP36/non_coding/ 0.0000 0.5185 0.6450 2 dominant HG002 HG002 chr17:78813271:A:C 1,.,. -1 -1 -1 -1 -1 -1 USP36 50_intron 33,.,. 0.424242,.,. USP36/intron/;USP36/non_coding/ 0.0000 0.5185 0.6450 2 dominant HG002 HG002 chr17:78815834:TACATACAC:T 1,.,. -1 -1 -1 -1 -1 -1 USP36 50_intron 33,.,. 0.454545,.,. USP36/intron/;USP36/non_coding/ 0.0000 0.5185 0.6450 2 recessive HG002 HG002 chr17:78869989:G:C 2,.,. -1 -1 -1 -1 -1 -1 TIMP2 50_intron 44,.,. 1,.,. TIMP2/intron/ 0.9925 0.2132 0.4480 1 recessive HG002 HG002 chr17:78869991:C:A 2,.,. 0.00218341 0 1 -1 -1 -1 TIMP2 50_intron 45,.,. 1,.,. TIMP2/intron/ 0.9925 0.2132 0.4480 1 recessive HG002 HG002 chr17:78869993:A:G 2,.,. 6.56892e-06 0 1 -1 -1 -1 TIMP2 50_intron 45,.,. 1,.,. TIMP2/intron/ 0.9925 0.2132 0.4480 1 dominant HG002 HG002 chr17:79246722:C:T 1,.,. -1 -1 -1 -1 -1 -1 RBFOX3 50_intron 28,.,. 0.5,.,. RBFOX3/intron/;RBFOX3/non_coding/ 0.5993 0.3806 0.6050 2 dominant HG002 HG002 chr17:79345097:T:C 1,.,. 6.56806e-06 0 1 -1 -1 -1 RBFOX3 50_intron 33,.,. 0.606061,.,. RBFOX3/intron/;RBFOX3/non_coding/ 0.5993 0.3806 0.6050 2 dominant HG002 HG002 chr17:79356373:T:G 1,.,. -1 -1 -1 -1 -1 -1 RBFOX3 50_intron 32,.,. 0.5,.,. RBFOX3/intron/;RBFOX3/non_coding/ 0.5993 0.3806 0.6050 2 recessive HG002 HG002 chr17:79656700:GGAAGGA:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr17:79752802:C:CTTGTTAGCCAGG 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr17:79752803:G:A 2,.,. 0.000300065 3 26 0.00911002 1 26 33,.,. 1,.,. dominant HG002 HG002 chr17:79919344:T:A 1,.,. 1.31449e-05 0 2 -1 -1 -1 16,.,. 0.375,.,. dominant HG002 HG002 chr17:80127070:AACACTG:A 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.2,.,. dominant HG002 HG002 chr17:80184199:G:A 1,.,. 6.57479e-06 0 1 -1 -1 -1 CARD14 30_synonymous 22,.,. 0.545455,.,. CARD14/synonymous&NMD_transcript/ENST00000650867;CARD14/synonymous/ENST00000573882;CARD14/synonymous/ENST00000648509;CARD14/synonymous&NMD_transcript/ENST00000575500;CARD14/synonymous/ENST00000651672;CARD14/synonymous&NMD_transcript/ENST00000651388;CARD14/synonymous&NMD_transcript/ENST00000651068;CARD14/synonymous/ENST00000570421;CARD14/synonymous/ENST00000344227;CARD14/synonymous&NMD_transcript/ENST00000648128;CARD14/synonymous&NMD_transcript/ENST00000571450 0.0000 1.0411 1.2220 6 Psoriasis 2 0.000 recessive HG002 HG002 chr17:80314764:A:T 2,.,. -1 -1 -1 0.00840925 4 24 RNF213 50_intron 22,.,. 1,.,. RNF213/intron/;RNF213/non_coding/ 0.0000 0.6312 0.6920 2 Moyamoya disease 2 0.000 dominant HG002 HG002 chr17:80444671:G:T 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.541667,.,. dominant HG002 HG002 chr17:80509318:G:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr17:80600152:G:A 1,.,. -1 -1 -1 -1 -1 -1 RPTOR 50_intron 40,.,. 0.5,.,. RPTOR/intron/;RPTOR/non_coding/ 1.0000 0.1411 0.2050 0 recessive HG002 HG002 chr17:80634610:T:C 2,.,. -1 -1 -1 -1 -1 -1 RPTOR 50_intron 26,.,. 1,.,. RPTOR/intron/;RPTOR/non_coding/ 1.0000 0.1411 0.2050 0 recessive HG002 HG002 chr17:81243399:AACCAC:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr17:81243405:A:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. dominant HG002 HG002 chr17:81327577:C:T 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.409091,.,. recessive HG002 HG002 chr17:81504284:C:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. dominant HG002 HG002 chr17:81646837:TTTTGTTGGTTTG:T 1,.,. -1 -1 -1 0.00140154 0 4 NPLOC4;TSPAN10 50_intron 31,.,. 0.612903,.,. NPLOC4/non_coding/;TSPAN10/intron/ 0.9997;;0.0003 0.2766;;0.8814 0.4260;;1.4540 1;;8 dominant HG002 HG002 chr17:81650222:T:TATG 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr17:81650223:T:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr17:82308144:C:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr17:82447266:T:A 1,.,. 6.79653e-06 0 1 -1 -1 -1 CYBC1 50_intron 26,.,. 0.346154,.,. CYBC1/intron/;CYBC1/non_coding/ 0.0000 1.1004 1.5560 8 Granulomatous disease, chronic, autosomal recessive, 5 0.000 dominant HG002 HG002 chr17:82451306:T:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.333333,.,. dominant HG002 HG002 chr17:82558774:G:T 1,.,. -1 -1 -1 -1 -1 -1 FOXK2 50_intron 29,.,. 0.413793,.,. FOXK2/intron/;FOXK2/non_coding/ 0.0017 0.5091 0.7210 2 dominant HG002 HG002 chr17:82558775:A:G 1,.,. -1 -1 -1 -1 -1 -1 FOXK2 50_intron 26,.,. 0.384615,.,. FOXK2/intron/;FOXK2/non_coding/ 0.0017 0.5091 0.7210 2 dominant HG002 HG002 chr17:82558776:G:A 1,.,. -1 -1 -1 -1 -1 -1 FOXK2 50_intron 26,.,. 0.384615,.,. FOXK2/intron/;FOXK2/non_coding/ 0.0017 0.5091 0.7210 2 dominant HG002 HG002 chr17:82912306:C:T 1,.,. -1 -1 -1 -1 -1 -1 TBCD 50_intron 30,.,. 0.466667,.,. TBCD/intron/;TBCD/non_coding/ 0.0000 0.6448 0.7630 3 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0.000 dominant HG002 HG002 chr17:82920790:TACCC:T 1,.,. -1 -1 -1 -1 -1 -1 TBCD 50_intron 28,.,. 0.428571,.,. TBCD/intron/;TBCD/non_coding/ 0.0000 0.6448 0.7630 3 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0.000 dominant HG002 HG002 chr17:82920797:C:A 1,.,. -1 -1 -1 -1 -1 -1 TBCD 50_intron 28,.,. 0.428571,.,. TBCD/intron/;TBCD/non_coding/ 0.0000 0.6448 0.7630 3 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0.000 dominant HG002 HG002 chr17:83051932:C:G 1,.,. 6.58666e-06 0 1 -1 -1 -1 21,.,. 0.380952,.,. dominant HG002 HG002 chr17:83135637:T:TCTCAGGGCGGCCGTGTGGGCATCCGTGTCAGAGTGCTGTGTGCCGGGCAACGCTCAGGGCGGCCGTGTGGGCATCCGTGTCAGAGTGCTGTGTGCCGGGCGACGCTCAGGGCGGCCGTGTGGGCATCCGTGTCAGAGTGCTGTGTGCCGGGCAACG 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.28,.,. dominant HG002 HG002 chr17:83162165:A:T 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.65,.,. dominant HG002 HG002 chr17:83172576:C:CAGCAGTGGGGTCAGCAGTGCGGCGAGGAGGGCTGGGTGAGCAGTGGGGTCAGCAGTGTGGCGAGGAGGGCTGGGTGAGCAGTGGGGTCAGCAGTGTGGCGAGGAGGGCTGGGTGAGCAGTGGGGTCAGCAGTGTGGCGAGGAGGGCTGGGTGAGCAGTGGGGTCAGCAGTGTGGCGAGGAGGGCTGGGTGAGCAGTGGGGTCAGCAGTGCGGCGAGGAGGGCTGGGTGAGCAGTGGGGTCAGCAGTGTGGCGAGGAGGGCTGGGTGAGCAGTGGGGTCAGCAGTGTGGCGAGGAGGGCTGGGTGAGCAGTGGGGTCAGCAGTGTGGCGAGGAGGGCTGGGTG 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.318182,.,. dominant HG002 HG002 chr18:80854:CACACAG:C 1,.,. -1 -1 -1 -1 -1 -1 IL9RP4 53_non_coding 23,.,. 0.434783,.,. IL9RP4/non_coding/ dominant HG002 HG002 chr18:457878:G:A 1,.,. 1.97003e-05 0 3 -1 -1 -1 COLEC12 50_intron 36,.,. 0.444444,.,. COLEC12/intron/;COLEC12/non_coding/ 0.3577 0.4048 0.6000 2 dominant HG002 HG002 chr18:614348:G:GAAGGA 1,.,. -1 -1 -1 -1 -1 -1 CLUL1 50_intron 25,.,. 0.56,.,. CLUL1/intron/;CLUL1/non_coding/ 0.0000 0.8151 1.0650 5 recessive HG002 HG002 chr18:822885:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr18:822886:G:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr18:822887:A:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr18:822888:C:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr18:828673:G:A 1,.,. 2.88043e-05 0 2 0.00140154 0 4 31,.,. 0.548387,.,. recessive HG002 HG002 chr18:828727:TGCAGTCC:T 2,.,. 0.000512821 1 3 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr18:838619:CTCTACTG:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr18:838627:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr18:959321:T:G 1,.,. 4.46728e-05 0 2 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr18:1164169:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr18:1263208:T:C 1,.,. -1 -1 -1 0.000700771 0 2 41,.,. 0.487805,.,. dominant HG002 HG002 chr18:1263210:C:A 1,.,. 6.57782e-06 0 1 0.000700771 0 2 41,.,. 0.487805,.,. dominant HG002 HG002 chr18:1539769:TA:T 1,.,. 1.9707e-05 0 3 -1 -1 -1 33,.,. 0.30303,.,. dominant HG002 HG002 chr18:1864501:A:C 1,.,. 1.31427e-05 0 2 -1 -1 -1 37,.,. 0.486486,.,. recessive HG002 HG002 chr18:1986102:CCT:C 2,.,. 0.000129863 0 19 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr18:2084784:T:TCTTTTTC 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.285714,.,. recessive HG002 HG002 chr18:2593924:C:CCAAGA 2,.,. -1 -1 -1 -1 -1 -1 NDC80;KATNBL1P3 50_intron 35,.,. 1,.,. NDC80/intron/;KATNBL1P3/non_coding/ 0.0000 0.6549 0.8760 4 recessive HG002 HG002 chr18:2593925:G:C 2,.,. -1 -1 -1 -1 -1 -1 NDC80;KATNBL1P3 50_intron 35,.,. 1,.,. NDC80/intron/;KATNBL1P3/non_coding/ 0.0000 0.6549 0.8760 4 dominant HG002 HG002 chr18:2647017:G:GACCTC 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr18:2647020:T:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. recessive HG002 HG002 chr18:2989619:T:TTAC 2,.,. -1 -1 -1 -1 -1 -1 LPIN2 50_intron 40,.,. 1,.,. LPIN2/intron/ 0.0017 0.4536 0.5820 1 Majeed syndrome 0.000 recessive HG002 HG002 chr18:2989621:T:A 2,.,. -1 -1 -1 -1 -1 -1 LPIN2 50_intron 40,.,. 1,.,. LPIN2/intron/ 0.0017 0.4536 0.5820 1 Majeed syndrome 0.000 dominant HG002 HG002 chr18:3290904:C:T 1,.,. 1.97239e-05 0 3 -1 -1 -1 46,.,. 0.478261,.,. dominant HG002 HG002 chr18:4132046:A:AT 1,.,. -1 -1 -1 -1 -1 -1 DLGAP1 50_intron 53,.,. 0.490566,.,. DLGAP1/intron/;DLGAP1/non_coding/ 1.0000 0.1351 0.2240 0 dominant HG002 HG002 chr18:4134509:A:G 1,.,. -1 -1 -1 -1 -1 -1 DLGAP1 50_intron 55,.,. 0.490909,.,. DLGAP1/intron/;DLGAP1/non_coding/ 1.0000 0.1351 0.2240 0 dominant HG002 HG002 chr18:4134510:G:C 1,.,. -1 -1 -1 -1 -1 -1 DLGAP1 50_intron 55,.,. 0.490909,.,. DLGAP1/intron/;DLGAP1/non_coding/ 1.0000 0.1351 0.2240 0 dominant HG002 HG002 chr18:4134511:TCGAGGCAGAGATA:T 1,.,. -1 -1 -1 -1 -1 -1 DLGAP1 50_intron 55,.,. 0.490909,.,. DLGAP1/intron/;DLGAP1/non_coding/ 1.0000 0.1351 0.2240 0 dominant HG002 HG002 chr18:4650467:G:A 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.54717,.,. dominant HG002 HG002 chr18:5469463:A:G 1,.,. -1 -1 -1 -1 -1 -1 EPB41L3 50_intron 37,.,. 0.513514,.,. EPB41L3/intron/;EPB41L3/non_coding/ 0.0024 0.4447 0.5620 1 dominant HG002 HG002 chr18:6292881:A:ACCCTCTGCCATCACTCTGC 1,.,. -1 -1 -1 -1 -1 -1 L3MBTL4 50_intron 47,.,. 0.489362,.,. L3MBTL4/intron/ 0.0006 0.5505 0.7930 3 dominant HG002 HG002 chr18:6292883:G:A 1,.,. -1 -1 -1 -1 -1 -1 L3MBTL4 50_intron 47,.,. 0.489362,.,. L3MBTL4/intron/ 0.0006 0.5505 0.7930 3 dominant HG002 HG002 chr18:6329132:TTGTTTCTTTTTTTC:T 1,.,. 1.19451e-05 0 1 -1 -1 -1 L3MBTL4 50_intron 34,.,. 0.529412,.,. L3MBTL4/intron/;L3MBTL4/non_coding/ 0.0006 0.5505 0.7930 3 dominant HG002 HG002 chr18:6393778:C:T 1,.,. -1 -1 -1 -1 -1 -1 L3MBTL4 50_intron 43,.,. 0.511628,.,. L3MBTL4/intron/;L3MBTL4/non_coding/ 0.0006 0.5505 0.7930 3 recessive HG002 HG002 chr18:6457803:A:AGCAATGTTTTTAAGT 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chr18:6729411:AACACAGGCGC:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.35,.,. recessive HG002 HG002 chr18:6927801:C:CTCTG 2,.,. -1 -1 -1 -1 -1 -1 SCML2P1 53_non_coding 43,.,. 1,.,. SCML2P1/non_coding/ dominant HG002 HG002 chr18:7411268:TTTTTG:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.484848,.,. dominant HG002 HG002 chr18:7551097:A:T 1,.,. 6.57099e-06 0 1 -1 -1 -1 45,.,. 0.577778,.,. dominant HG002 HG002 chr18:8023843:C:CACACAA 1,.,. -1 -1 -1 -1 -1 -1 PTPRM 50_intron 54,.,. 0.537037,.,. PTPRM/intron/;PTPRM/non_coding/ 1.0000 0.2548 0.3340 0 dominant HG002 HG002 chr18:8060513:G:T 1,.,. -1 -1 -1 0.000700771 0 2 PTPRM 50_intron 50,.,. 0.52,.,. PTPRM/intron/;PTPRM/non_coding/ 1.0000 0.2548 0.3340 0 dominant HG002 HG002 chr18:8291092:A:C 1,.,. -1 -1 -1 -1 -1 -1 PTPRM 50_intron 40,.,. 0.425,.,. PTPRM/intron/;PTPRM/non_coding/ 1.0000 0.2548 0.3340 0 dominant HG002 HG002 chr18:8492186:C:A 1,.,. 4.49964e-05 0 4 -1 -1 -1 THEMIS3P 53_non_coding 30,.,. 0.266667,.,. THEMIS3P/non_coding/ dominant HG002 HG002 chr18:8785020:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 MTCL1 50_intron 30,.,. 0.266667,.,. MTCL1/intron/;MTCL1/non_coding/ 0.0000 0.5468 0.6630 2 dominant HG002 HG002 chr18:9035840:G:GTGTATATATATATATATATATATGTGTATATATATATATATATATGTGTATATATATATATATATATA 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.290323,.,. dominant HG002 HG002 chr18:9122291:T:A 1,.,. -1 -1 -1 -1 -1 -1 NDUFV2 50_intron 38,.,. 0.526316,.,. NDUFV2/intron/;NDUFV2/non_coding/ 0.8279 0.3218 0.6040 2 Mitochondrial complex 1 deficiency, nuclear type 7 0.000 dominant HG002 HG002 chr18:9122292:A:C 1,.,. -1 -1 -1 -1 -1 -1 NDUFV2 50_intron 38,.,. 0.526316,.,. NDUFV2/intron/;NDUFV2/non_coding/ 0.8279 0.3218 0.6040 2 Mitochondrial complex 1 deficiency, nuclear type 7 0.000 dominant HG002 HG002 chr18:9122293:ACTTTCGG:A 1,.,. -1 -1 -1 -1 -1 -1 NDUFV2 50_intron 38,.,. 0.526316,.,. NDUFV2/intron/;NDUFV2/non_coding/ 0.8279 0.3218 0.6040 2 Mitochondrial complex 1 deficiency, nuclear type 7 0.000 recessive HG002 HG002 chr18:9182334:C:T 2,.,. -1 -1 -1 -1 -1 -1 ANKRD12 50_intron 45,.,. 1,.,. ANKRD12/intron/;ANKRD12/non_coding/ 0.0000 0.4836 0.5830 1 recessive HG002 HG002 chr18:9431943:CAGGTG:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr18:9431949:C:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr18:9539584:CAAGG:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr18:9539589:C:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr18:9539590:T:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. recessive HG002 HG002 chr18:9746189:C:CTAG 2,.,. -1 -1 -1 -1 -1 -1 RAB31 50_intron 41,.,. 1,.,. RAB31/intron/ 0.0000 1.0128 1.5160 8 dominant HG002 HG002 chr18:9923952:C:T 1,.,. -1 -1 -1 -1 -1 -1 VAPA;RNA5SP450 50_intron 37,.,. 0.621622,.,. VAPA/intron/;VAPA/non_coding/;RNA5SP450/non_coding/ 0.9947 0.1559 0.4030 1 dominant HG002 HG002 chr18:10301561:G:T 1,.,. 2.62753e-05 0 4 -1 -1 -1 37,.,. 0.432432,.,. dominant HG002 HG002 chr18:10519416:G:A 1,.,. 1.9728e-05 0 3 -1 -1 -1 32,.,. 0.59375,.,. dominant HG002 HG002 chr18:10600555:TGTTTTG:T 1,.,. 3.10868e-05 0 2 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr18:10956981:A:AAAC 1,.,. -1 -1 -1 -1 -1 -1 PIEZO2 50_intron 41,.,. 0.390244,.,. PIEZO2/intron/ 0.0000 0.4923 0.5630 1 Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Arthrogryposis, distal, with impaired proprioception and touch;Marden-Walker syndrome;Gordon syndrome 0.000 dominant HG002 HG002 chr18:11027823:GACTTGGTA:G 1,.,. -1 -1 -1 -1 -1 -1 PIEZO2 50_intron 43,.,. 0.465116,.,. PIEZO2/intron/ 0.0000 0.4923 0.5630 1 Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Arthrogryposis, distal, with impaired proprioception and touch;Marden-Walker syndrome;Gordon syndrome 0.000 dominant HG002 HG002 chr18:11027833:G:A 1,.,. -1 -1 -1 -1 -1 -1 PIEZO2 50_intron 42,.,. 0.47619,.,. PIEZO2/intron/ 0.0000 0.4923 0.5630 1 Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Arthrogryposis, distal, with impaired proprioception and touch;Marden-Walker syndrome;Gordon syndrome 0.000 dominant HG002 HG002 chr18:11035329:CTCTCTT:C 1,.,. -1 -1 -1 -1 -1 -1 PIEZO2 50_intron 43,.,. 0.44186,.,. PIEZO2/intron/ 0.0000 0.4923 0.5630 1 Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Arthrogryposis, distal, with impaired proprioception and touch;Marden-Walker syndrome;Gordon syndrome 0.000 dominant HG002 HG002 chr18:11035339:C:T 1,.,. -1 -1 -1 -1 -1 -1 PIEZO2 50_intron 43,.,. 0.44186,.,. PIEZO2/intron/ 0.0000 0.4923 0.5630 1 Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome;Arthrogryposis, distal, with impaired proprioception and touch;Marden-Walker syndrome;Gordon syndrome 0.000 dominant HG002 HG002 chr18:11172283:C:T 1,.,. 1.3157e-05 0 2 -1 -1 -1 36,.,. 0.583333,.,. dominant HG002 HG002 chr18:11638393:G:T 1,.,. -1 -1 -1 -1 -1 -1 NPIPB1P 53_non_coding 39,.,. 0.358974,.,. NPIPB1P/non_coding/ dominant HG002 HG002 chr18:11638395:G:T 1,.,. -1 -1 -1 -1 -1 -1 NPIPB1P 53_non_coding 39,.,. 0.589744,.,. NPIPB1P/non_coding/ dominant HG002 HG002 chr18:12215317:G:GTAGGTATTTCTGTAGGTATTTTGTAGGCTGCATTTGTA 1,.,. -1 -1 -1 -1 -1 -1 AP005264.5 53_non_coding 43,.,. 0.511628,.,. AP005264.5/non_coding/ dominant HG002 HG002 chr18:12215319:T:G 1,.,. -1 -1 -1 -1 -1 -1 AP005264.5 53_non_coding 44,.,. 0.5,.,. AP005264.5/non_coding/ dominant HG002 HG002 chr18:12215320:G:T 1,.,. -1 -1 -1 -1 -1 -1 AP005264.5 53_non_coding 44,.,. 0.5,.,. AP005264.5/non_coding/ dominant HG002 HG002 chr18:12251990:TGACTCGCACTG:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr18:12252002:T:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr18:12733087:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. recessive HG002 HG002 chr18:12894959:ATTTGAGATTTGAGAT:A 2,.,. -1 -1 -1 -1 -1 -1 PTPN2 50_intron 41,.,. 1,.,. PTPN2/intron/ 0.5102 0.3889 0.6180 2 0.000 recessive HG002 HG002 chr18:12894975:G:A 2,.,. -1 -1 -1 -1 -1 -1 PTPN2 50_intron 41,.,. 1,.,. PTPN2/intron/ 0.5102 0.3889 0.6180 2 0.000 recessive HG002 HG002 chr18:12894977:A:T 2,.,. 0.000212947 0 2 -1 -1 -1 PTPN2 50_intron 40,.,. 1,.,. PTPN2/intron/ 0.5102 0.3889 0.6180 2 0.000 dominant HG002 HG002 chr18:13352397:T:C 1,.,. -1 -1 -1 -1 -1 -1 LDLRAD4 50_intron 35,.,. 0.571429,.,. LDLRAD4/non_coding/;LDLRAD4/intron/ 0.6376 0.3546 0.6660 2 dominant HG002 HG002 chr18:13352398:CCCTTT:C 1,.,. -1 -1 -1 -1 -1 -1 LDLRAD4 50_intron 35,.,. 0.571429,.,. LDLRAD4/non_coding/;LDLRAD4/intron/ 0.6376 0.3546 0.6660 2 dominant HG002 HG002 chr18:13455532:AGGAGCAGC:A 1,.,. -1 -1 -1 -1 -1 -1 LDLRAD4 50_intron 27,.,. 0.407407,.,. LDLRAD4/intron/ 0.6376 0.3546 0.6660 2 dominant HG002 HG002 chr18:13455541:T:C 1,.,. -1 -1 -1 -1 -1 -1 LDLRAD4 50_intron 27,.,. 0.407407,.,. LDLRAD4/intron/ 0.6376 0.3546 0.6660 2 dominant HG002 HG002 chr18:13455543:A:T 1,.,. 5.20996e-05 0 3 -1 -1 -1 LDLRAD4 50_intron 27,.,. 0.407407,.,. LDLRAD4/intron/ 0.6376 0.3546 0.6660 2 dominant HG002 HG002 chr18:14213135:G:A 1,.,. -1 -1 -1 -1 -1 -1 ANKRD20A5P 53_non_coding 37,.,. 0.513514,.,. ANKRD20A5P/non_coding/ dominant HG002 HG002 chr18:14230282:A:G 1,.,. 1.97163e-05 0 3 -1 -1 -1 ANKRD20A5P 53_non_coding 43,.,. 0.395349,.,. ANKRD20A5P/non_coding/ dominant HG002 HG002 chr18:14379585:G:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. recessive HG002 HG002 chr18:14664569:ATC:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr18:14664582:T:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr18:14668983:G:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr18:14716153:C:A 2,.,. 6.82532e-05 0 6 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr18:14790768:G:C 1,.,. -1 -1 -1 -1 -1 -1 ANKRD30B 50_intron 43,.,. 0.44186,.,. ANKRD30B/non_coding/;ANKRD30B/intron/ 0.0000 0.8182 0.9810 4 dominant HG002 HG002 chr18:14859616:C:T 1,.,. -1 -1 -1 0.000700771 0 2 32,.,. 0.6875,.,. dominant HG002 HG002 chr18:14859624:T:C 1,.,. -1 -1 -1 0.000700771 0 2 31,.,. 0.741935,.,. dominant HG002 HG002 chr18:14872019:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.314286,.,. dominant HG002 HG002 chr18:15046199:T:C 1,.,. 1.97091e-05 0 3 -1 -1 -1 58,.,. 0.482759,.,. dominant HG002 HG002 chr18:15080088:T:A 1,.,. 1.97384e-05 0 3 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr18:15249798:C:T 1,.,. 1.97192e-05 0 3 -1 -1 -1 37,.,. 0.486486,.,. recessive HG002 HG002 chr18:15466986:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chr18:15785458:T:A 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.541667,.,. recessive HG002 HG002 chr18:15799048:A:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr18:15799053:C:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr18:15799067:G:T 2,.,. -1 -1 -1 0.00280308 4 8 10,.,. 1,.,. recessive HG002 HG002 chr18:15802146:T:G 2,.,. -1 -1 -1 0.00210231 0 6 10,.,. 1,.,. recessive HG002 HG002 chr18:15802221:T:C 2,.,. -1 -1 -1 0.00105116 0 3 13,.,. 1,.,. recessive HG002 HG002 chr18:15802225:G:T 2,.,. -1 -1 -1 0.00140154 0 4 14,.,. 1,.,. recessive HG002 HG002 chr18:15802295:T:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr18:15802338:A:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:15802408:A:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:15802419:A:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:15802420:T:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:15802461:A:G 2,.,. -1 -1 -1 0.00911002 3 26 14,.,. 1,.,. recessive HG002 HG002 chr18:15802759:A:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:15802810:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:15802867:A:G 2,.,. -1 -1 -1 0.000700771 0 2 14,.,. 1,.,. recessive HG002 HG002 chr18:15802884:A:G 2,.,. -1 -1 -1 0.00385424 3 11 13,.,. 1,.,. recessive HG002 HG002 chr18:15802925:T:C 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr18:15802936:A:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:15802961:T:C 2,.,. -1 -1 -1 0.00665732 4 19 14,.,. 1,.,. recessive HG002 HG002 chr18:15802987:A:G 2,.,. -1 -1 -1 0.00385424 3 11 14,.,. 1,.,. recessive HG002 HG002 chr18:15803000:A:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:15803186:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:15803215:C:G 2,.,. -1 -1 -1 0.00210231 3 6 14,.,. 1,.,. recessive HG002 HG002 chr18:15803373:G:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:15803436:A:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:15803513:A:G 2,.,. -1 -1 -1 0.0126139 1 36 14,.,. 1,.,. recessive HG002 HG002 chr18:15803606:T:A 2,.,. -1 -1 -1 0.00981079 2 28 14,.,. 1,.,. recessive HG002 HG002 chr18:15803679:T:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:15803709:T:G 2,.,. -1 -1 -1 0.00315347 1 9 12,.,. 1,.,. recessive HG002 HG002 chr18:15803966:A:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr18:15803995:A:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr18:15804366:A:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr18:15805591:G:C 2,.,. -1 -1 -1 0.00455501 2 13 8,.,. 1,.,. recessive HG002 HG002 chr18:15823761:G:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr18:15823770:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr18:15823875:T:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr18:15823876:C:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr18:15828457:C:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr18:15841585:G:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr18:15841594:C:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr18:15841622:C:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr18:15841644:G:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr18:15841649:C:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr18:15841681:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr18:15841700:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr18:15845700:A:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr18:15884069:G:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr18:15892153:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:15917601:C:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr18:15917779:A:G 2,.,. -1 -1 -1 0.00280308 2 8 36,.,. 1,.,. recessive HG002 HG002 chr18:15917890:T:TA 2,.,. -1 -1 -1 0.00210231 3 6 36,.,. 1,.,. recessive HG002 HG002 chr18:15917930:G:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:15918045:T:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:15918134:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:15918167:G:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:15918185:A:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:15918190:C:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:15918200:T:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:15918231:G:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:15918261:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:15918358:T:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr18:15918363:A:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr18:15918431:G:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:15918433:G:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr18:15918436:T:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:15918454:A:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:15918495:A:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:15955418:G:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr18:15984363:G:T 2,.,. -1 -1 -1 0.00175193 1 5 21,.,. 1,.,. recessive HG002 HG002 chr18:16008169:T:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr18:16015721:A:C 2,.,. -1 -1 -1 0.0024527 3 7 22,.,. 1,.,. recessive HG002 HG002 chr18:16049365:GTA:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr18:16049368:G:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr18:16154036:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr18:16176486:C:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr18:16176489:G:A 2,.,. -1 -1 -1 0.00455501 3 13 30,.,. 1,.,. recessive HG002 HG002 chr18:16177012:C:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr18:16177041:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr18:16177046:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr18:16177083:C:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr18:16224956:A:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr18:16272234:T:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr18:16272235:T:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr18:16297771:T:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr18:16327606:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr18:16365973:A:G 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr18:16365989:T:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr18:16366001:T:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr18:16366032:C:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr18:16366048:A:C 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. recessive HG002 HG002 chr18:16411404:G:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr18:16432398:T:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr18:16432408:A:C 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr18:16434209:A:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr18:16443046:G:A 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr18:16522199:C:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:16534487:C:T 2,.,. -1 -1 -1 -1 -1 -1 136,.,. 1,.,. recessive HG002 HG002 chr18:16534496:G:A 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 1,.,. recessive HG002 HG002 chr18:16534531:C:T 2,.,. -1 -1 -1 -1 -1 -1 130,.,. 1,.,. recessive HG002 HG002 chr18:16534546:G:C 2,.,. -1 -1 -1 -1 -1 -1 137,.,. 0.985401,.,. recessive HG002 HG002 chr18:16535376:C:T 2,.,. -1 -1 -1 -1 -1 -1 131,.,. 0.992366,.,. recessive HG002 HG002 chr18:16535381:A:T 2,.,. -1 -1 -1 -1 -1 -1 129,.,. 1,.,. recessive HG002 HG002 chr18:16535405:C:G 2,.,. -1 -1 -1 -1 -1 -1 130,.,. 1,.,. recessive HG002 HG002 chr18:16544007:T:A 2,.,. -1 -1 -1 0.01822 4 52 57,.,. 0.982456,.,. recessive HG002 HG002 chr18:16572242:T:G 2,.,. -1 -1 -1 -1 -1 -1 164,.,. 1,.,. recessive HG002 HG002 chr18:16572286:G:C 2,.,. -1 -1 -1 -1 -1 -1 178,.,. 0.994382,.,. recessive HG002 HG002 chr18:16609731:T:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr18:16613444:A:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr18:16613447:T:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr18:16613465:G:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr18:16639344:G:C 2,.,. -1 -1 -1 -1 -1 -1 243,.,. 1,.,. recessive HG002 HG002 chr18:16639380:C:G 2,.,. -1 -1 -1 -1 -1 -1 236,.,. 1,.,. recessive HG002 HG002 chr18:16639385:C:G 2,.,. -1 -1 -1 -1 -1 -1 239,.,. 1,.,. recessive HG002 HG002 chr18:16640466:G:A 2,.,. -1 -1 -1 -1 -1 -1 234,.,. 1,.,. recessive HG002 HG002 chr18:16640568:C:T 2,.,. -1 -1 -1 -1 -1 -1 234,.,. 0.991453,.,. recessive HG002 HG002 chr18:16705957:G:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr18:16706179:C:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr18:16708602:T:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr18:16708611:C:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr18:16717818:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr18:16717851:G:C 2,.,. -1 -1 -1 0.00280308 4 8 21,.,. 1,.,. recessive HG002 HG002 chr18:16851179:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr18:16909477:G:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr18:16966689:G:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.980769,.,. recessive HG002 HG002 chr18:16966696:A:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr18:16966712:T:C 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr18:16966760:T:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr18:16968211:C:T 2,.,. -1 -1 -1 0.00140154 2 4 33,.,. 1,.,. recessive HG002 HG002 chr18:17064527:T:G 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr18:17132682:C:T 2,.,. -1 -1 -1 0.00315347 4 9 8,.,. 1,.,. recessive HG002 HG002 chr18:17132699:C:T 2,.,. -1 -1 -1 0.00210231 3 6 8,.,. 1,.,. recessive HG002 HG002 chr18:17279621:G:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr18:17279652:G:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr18:17279720:T:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr18:17279721:C:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr18:17279775:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr18:17306331:A:C 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr18:17510404:C:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr18:17510422:T:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr18:17510426:C:G 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr18:17523573:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr18:17553292:T:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr18:17652678:G:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr18:17836102:C:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr18:17836133:C:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr18:17928679:G:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:17946213:C:T 2,.,. -1 -1 -1 0.00210231 1 6 11,.,. 1,.,. recessive HG002 HG002 chr18:17981467:C:T 2,.,. -1 -1 -1 0.00210231 3 6 21,.,. 1,.,. recessive HG002 HG002 chr18:17993573:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr18:17993582:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr18:17993588:G:A 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr18:17993610:C:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr18:17993624:G:C 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr18:17993632:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr18:18045628:T:G 2,.,. -1 -1 -1 0.00140154 2 4 16,.,. 1,.,. recessive HG002 HG002 chr18:18049336:T:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr18:18050010:T:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr18:18073608:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr18:18105317:A:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr18:18310264:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr18:18406142:A:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr18:18447448:G:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr18:18447460:A:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr18:18470050:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr18:18492352:C:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr18:18492579:A:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:18492580:T:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr18:18496560:T:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr18:18498595:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr18:18500630:T:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chr18:18501821:C:A 2,.,. -1 -1 -1 0.0024527 2 7 16,.,. 1,.,. recessive HG002 HG002 chr18:18501999:A:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr18:18519715:T:G 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 0.985507,.,. recessive HG002 HG002 chr18:18519725:A:G 2,.,. -1 -1 -1 -1 -1 -1 69,.,. 0.985507,.,. recessive HG002 HG002 chr18:18548791:G:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr18:18548818:A:G 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr18:18563493:G:A 2,.,. -1 -1 -1 0.00420463 4 12 56,.,. 0.982143,.,. recessive HG002 HG002 chr18:18604558:AAAG:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr18:18604562:T:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr18:18811268:G:T 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr18:18811611:C:A 2,.,. -1 -1 -1 0.00350385 2 10 6,.,. 1,.,. recessive HG002 HG002 chr18:18840954:C:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr18:18840960:T:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr18:18851089:A:T 2,.,. -1 -1 -1 0.00140154 2 4 15,.,. 1,.,. recessive HG002 HG002 chr18:18891027:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr18:19157406:A:C 2,.,. -1 -1 -1 0.0157673 1 45 8,.,. 1,.,. recessive HG002 HG002 chr18:19207462:G:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr18:19207531:C:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr18:19207543:C:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr18:19314318:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chr18:19316333:G:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr18:19331778:C:T 2,.,. -1 -1 -1 0.00210231 3 6 7,.,. 1,.,. recessive HG002 HG002 chr18:19332415:A:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr18:19367626:G:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr18:19367689:T:C 2,.,. -1 -1 -1 0.00280308 2 8 36,.,. 1,.,. recessive HG002 HG002 chr18:19369413:C:A 2,.,. -1 -1 -1 0.00770848 3 22 50,.,. 0.98,.,. recessive HG002 HG002 chr18:19378879:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr18:19380546:GTA:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr18:19380549:G:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr18:19383000:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr18:19425051:C:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr18:19427049:G:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr18:19427266:A:G 2,.,. -1 -1 -1 0.00140154 1 4 7,.,. 1,.,. recessive HG002 HG002 chr18:19427317:G:GA 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr18:19540583:T:G 2,.,. -1 -1 -1 0.00280308 4 8 7,.,. 1,.,. recessive HG002 HG002 chr18:19540587:G:C 2,.,. -1 -1 -1 0.00280308 4 8 7,.,. 1,.,. recessive HG002 HG002 chr18:19588548:G:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr18:19595274:T:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr18:19649229:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr18:19735566:C:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr18:19738218:G:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr18:19750514:T:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr18:19770168:C:A 2,.,. -1 -1 -1 0.0171689 1 49 9,.,. 1,.,. recessive HG002 HG002 chr18:20076819:C:A 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr18:20375364:A:G 2,.,. -1 -1 -1 0.00560617 4 16 6,.,. 1,.,. recessive HG002 HG002 chr18:20485976:A:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chr18:20486065:G:A 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. dominant HG002 HG002 chr18:20574048:C:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.461538,.,. dominant HG002 HG002 chr18:20591722:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.384615,.,. dominant HG002 HG002 chr18:20591886:T:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.410256,.,. dominant HG002 HG002 chr18:20603039:A:G 1,.,. -1 -1 -1 0.00105116 0 3 12,.,. 0.583333,.,. recessive HG002 HG002 chr18:20609128:G:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr18:20609136:C:T 2,.,. -1 -1 -1 0.00210231 3 6 17,.,. 1,.,. recessive HG002 HG002 chr18:20609168:A:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr18:20676998:T:G 2,.,. -1 -1 -1 0.00280308 4 8 22,.,. 1,.,. recessive HG002 HG002 chr18:20688901:G:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr18:20688909:C:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr18:20688928:C:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr18:20688929:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr18:20688932:T:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr18:20688934:G:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr18:20688937:A:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr18:20707063:G:T 2,.,. -1 -1 -1 0.00315347 4 9 13,.,. 1,.,. recessive HG002 HG002 chr18:20707098:C:A 2,.,. -1 -1 -1 0.00280308 4 8 12,.,. 1,.,. recessive HG002 HG002 chr18:20718380:T:G 2,.,. -1 -1 -1 0.00140154 0 4 10,.,. 1,.,. dominant HG002 HG002 chr18:21914882:C:T 1,.,. 2.65632e-05 0 4 -1 -1 -1 37,.,. 0.594595,.,. dominant HG002 HG002 chr18:22022318:C:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.444444,.,. dominant HG002 HG002 chr18:22062091:C:CAAAAGA 1,.,. -1 -1 -1 0.00105116 0 3 30,.,. 0.5,.,. dominant HG002 HG002 chr18:22062099:A:C 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.575758,.,. dominant HG002 HG002 chr18:22067382:A:AAAAAGAG 1,.,. 9.48281e-06 0 1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr18:22105981:T:TAC 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr18:22121435:G:A 1,.,. 2.62854e-05 0 4 -1 -1 -1 29,.,. 0.586207,.,. dominant HG002 HG002 chr18:22164133:G:C 1,.,. 2.62854e-05 0 4 -1 -1 -1 38,.,. 0.526316,.,. recessive HG002 HG002 chr18:22983661:G:GTAACTATTTAGAAATTTAATTCACTTGCTTTAACCTTGTTCTGATCATTTTTTACTTGGAATCTGAAATTTGGTTTTAAGATGTACGATAACCTTGAGCCATACAAATGATTTTAAAATAATTTTAAATTATTT 2,.,. -1 -1 -1 -1 -1 -1 RBBP8 50_intron 32,.,. 1,.,. RBBP8/intron/ 0.0000 0.8105 0.9810 4 Seckel syndrome 2;Jawad syndrome 0.000 recessive HG002 HG002 chr18:22983662:A:T 2,.,. -1 -1 -1 -1 -1 -1 RBBP8 50_intron 34,.,. 1,.,. RBBP8/intron/ 0.0000 0.8105 0.9810 4 Seckel syndrome 2;Jawad syndrome 0.000 recessive HG002 HG002 chr18:22983665:G:A 2,.,. -1 -1 -1 -1 -1 -1 RBBP8 50_intron 34,.,. 1,.,. RBBP8/intron/ 0.0000 0.8105 0.9810 4 Seckel syndrome 2;Jawad syndrome 0.000 dominant HG002 HG002 chr18:23590649:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr18:23997677:A:G 1,.,. -1 -1 -1 -1 -1 -1 TTC39C 50_intron 37,.,. 0.378378,.,. TTC39C/intron/ 0.7766 0.3795 0.5420 1 dominant HG002 HG002 chr18:24394823:G:GTACA 1,.,. -1 -1 -1 -1 -1 -1 OSBPL1A 50_intron 34,.,. 0.617647,.,. OSBPL1A/intron/;OSBPL1A/non_coding/ 0.0000 0.6183 0.7610 3 dominant HG002 HG002 chr18:24394824:C:A 1,.,. -1 -1 -1 -1 -1 -1 OSBPL1A 50_intron 34,.,. 0.617647,.,. OSBPL1A/intron/;OSBPL1A/non_coding/ 0.0000 0.6183 0.7610 3 dominant HG002 HG002 chr18:24440142:GACTC:G 1,.,. 7.15717e-06 0 1 -1 -1 -1 IMPACT 50_intron 37,.,. 0.432432,.,. IMPACT/intron/;IMPACT/non_coding/ 0.0001 0.8860 1.4320 7 dominant HG002 HG002 chr18:24440154:TTATTTCAGTCCATGGGTTAAA:T 1,.,. 1.02756e-05 0 1 -1 -1 -1 IMPACT 50_intron 37,.,. 0.432432,.,. IMPACT/intron/;IMPACT/non_coding/ 0.0001 0.8860 1.4320 7 dominant HG002 HG002 chr18:24561145:C:T 1,.,. 1.31498e-05 0 2 -1 -1 -1 48,.,. 0.583333,.,. dominant HG002 HG002 chr18:24866791:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr18:25074043:T:TGTGTGCAC 1,.,. -1 -1 -1 -1 -1 -1 ZNF521 50_intron 45,.,. 0.555556,.,. ZNF521/intron/ 1.0000 0.1297 0.2060 0 dominant HG002 HG002 chr18:26364429:A:AAGAT 1,.,. -1 -1 -1 -1 -1 -1 TAF4B 50_intron 40,.,. 0.475,.,. TAF4B/intron/ 0.0006 0.4855 0.6460 2 Spermatogenic failure 13 0.000 dominant HG002 HG002 chr18:26364431:A:C 1,.,. -1 -1 -1 -1 -1 -1 TAF4B 50_intron 40,.,. 0.475,.,. TAF4B/intron/ 0.0006 0.4855 0.6460 2 Spermatogenic failure 13 0.000 dominant HG002 HG002 chr18:26364433:C:A 1,.,. -1 -1 -1 -1 -1 -1 TAF4B 50_intron 40,.,. 0.475,.,. TAF4B/intron/ 0.0006 0.4855 0.6460 2 Spermatogenic failure 13 0.000 dominant HG002 HG002 chr18:26508705:ATATTTC:A 1,.,. -1 -1 -1 -1 -1 -1 KCTD1 50_intron 41,.,. 0.390244,.,. KCTD1/intron/ 0.0891 0.4306 0.6060 2 Scalp-ear-nipple syndrome 0.000 dominant HG002 HG002 chr18:26727112:T:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.37931,.,. dominant HG002 HG002 chr18:26825328:G:T 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr18:26925862:GGTAA:G 1,.,. 6.57722e-06 0 1 -1 -1 -1 CHST9 50_intron 38,.,. 0.578947,.,. CHST9/intron/ 0.0000 1.0488 1.4220 7 dominant HG002 HG002 chr18:26927720:CTCAGGGATG:C 1,.,. -1 -1 -1 -1 -1 -1 CHST9 50_intron 36,.,. 0.638889,.,. CHST9/intron/ 0.0000 1.0488 1.4220 7 dominant HG002 HG002 chr18:26927730:A:C 1,.,. -1 -1 -1 -1 -1 -1 CHST9 50_intron 36,.,. 0.638889,.,. CHST9/intron/ 0.0000 1.0488 1.4220 7 dominant HG002 HG002 chr18:27423651:A:G 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr18:27650212:CTTGCTATA:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.452381,.,. dominant HG002 HG002 chr18:28249492:T:G 1,.,. 6.16396e-05 0 3 -1 -1 -1 41,.,. 0.390244,.,. recessive HG002 HG002 chr18:28789038:A:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr18:28789039:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr18:28789040:A:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr18:29033606:A:AT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.388889,.,. recessive HG002 HG002 chr18:29148805:T:A 2,.,. 0.00408839 1 168 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr18:29148806:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr18:29148807:T:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr18:29265164:A:T 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.48,.,. recessive HG002 HG002 chr18:30055172:T:C 2,.,. 0.00303949 1 463 0.00350385 0 10 43,.,. 1,.,. recessive HG002 HG002 chr18:30116852:C:A 2,.,. 0.00299358 1 455 0.00385424 0 11 42,.,. 1,.,. recessive HG002 HG002 chr18:30155517:G:A 2,.,. 0.00511792 2 776 0.00560617 0 16 46,.,. 1,.,. recessive HG002 HG002 chr18:30241772:A:G 2,.,. 0.00298767 1 454 0.00350385 0 10 48,.,. 1,.,. dominant HG002 HG002 chr18:30282788:C:T 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.517241,.,. dominant HG002 HG002 chr18:30478038:A:ATGAAAC 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr18:30479811:G:GGGTCATCC 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr18:30479813:T:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. recessive HG002 HG002 chr18:30499951:TAG:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr18:30499954:C:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr18:30530846:G:T 1,.,. 6.59196e-06 0 1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr18:30591644:A:AATTTATTT 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.636364,.,. dominant HG002 HG002 chr18:31143376:AAAAAT:A 1,.,. 1.11689e-05 0 1 -1 -1 -1 DSC1 50_intron 42,.,. 0.357143,.,. DSC1/intron/ 0.0000 0.7885 0.9510 4 dominant HG002 HG002 chr18:31143386:T:A 1,.,. -1 -1 -1 -1 -1 -1 DSC1 50_intron 40,.,. 0.575,.,. DSC1/intron/ 0.0000 0.7885 0.9510 4 dominant HG002 HG002 chr18:31144932:TTTTC:T 1,.,. 2.24417e-05 0 2 -1 -1 -1 DSC1 50_intron 45,.,. 0.355556,.,. DSC1/intron/ 0.0000 0.7885 0.9510 4 dominant HG002 HG002 chr18:31399605:G:T 1,.,. 2.6286e-05 0 4 -1 -1 -1 DSG4 50_intron 48,.,. 0.666667,.,. DSG4/intron/ 0.0000 0.8802 1.0610 5 Hypotrichosis 6 0.000 recessive HG002 HG002 chr18:31494603:C:T 2,.,. 0.00486998 0 742 0.00315347 0 9 33,.,. 1,.,. dominant HG002 HG002 chr18:31542752:C:T 1,.,. 2.63019e-05 0 4 -1 -1 -1 DSG2 14_missense 34,.,. 0.441176,.,. DSG2/missense/ENST00000261590 0.0000 0.5866 0.7640 3 Dilated cardiomyopathy 1BB;Arrhythmogenic right ventricular dysplasia 10;Arrhythmogenic right ventricular cardiomyopathy;Primary dilated cardiomyopathy 0.000 dominant HG002 HG002 chr18:31678705:T:C 1,.,. 2.62812e-05 0 4 -1 -1 -1 B4GALT6 50_intron 47,.,. 0.553191,.,. B4GALT6/intron/ 0.9553 0.3115 0.5280 1 dominant HG002 HG002 chr18:31739475:A:T 1,.,. 2.63179e-05 0 4 -1 -1 -1 45,.,. 0.555556,.,. dominant HG002 HG002 chr18:31810423:AAACAAAACAAG:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr18:32199658:CCTTTCGTT:C 1,.,. -1 -1 -1 -1 -1 -1 GAREM1;MEP1B 50_intron 28,.,. 0.321429,.,. GAREM1/intron/;MEP1B/non_coding/ 0.9494;;0.0000 0.3653;;0.9883 0.5070;;1.2230 1;;6 dominant HG002 HG002 chr18:32229230:A:T 1,.,. 2.58402e-05 0 3 -1 -1 -1 GAREM1 50_intron 36,.,. 0.611111,.,. GAREM1/intron/ 0.9494 0.3653 0.5070 1 dominant HG002 HG002 chr18:32307933:C:T 1,.,. 1.97163e-05 0 3 -1 -1 -1 GAREM1 50_intron 35,.,. 0.371429,.,. GAREM1/intron/;GAREM1/non_coding/ 0.9494 0.3653 0.5070 1 dominant HG002 HG002 chr18:32376024:T:C 1,.,. 2.62788e-05 0 4 -1 -1 -1 GAREM1 50_intron 40,.,. 0.525,.,. GAREM1/intron/ 0.9494 0.3653 0.5070 1 dominant HG002 HG002 chr18:32383104:G:A 1,.,. 2.62916e-05 0 4 -1 -1 -1 GAREM1 50_intron 24,.,. 0.541667,.,. GAREM1/intron/ 0.9494 0.3653 0.5070 1 dominant HG002 HG002 chr18:32445329:AAAAAGGCT:A 1,.,. -1 -1 -1 -1 -1 -1 GAREM1 50_intron 65,.,. 0.430769,.,. GAREM1/intron/ 0.9494 0.3653 0.5070 1 dominant HG002 HG002 chr18:32445342:A:G 1,.,. 7.14561e-06 0 1 -1 -1 -1 GAREM1 50_intron 59,.,. 0.491525,.,. GAREM1/intron/ 0.9494 0.3653 0.5070 1 recessive HG002 HG002 chr18:32813978:A:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr18:32813979:A:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr18:32813980:A:ATACCTTTGGTTG 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr18:32828516:T:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.512195,.,. dominant HG002 HG002 chr18:32913290:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr18:33319030:C:A 1,.,. -1 -1 -1 -1 -1 -1 CCDC178 50_intron 40,.,. 0.375,.,. CCDC178/intron/ 0.0000 1.0348 1.3470 7 dominant HG002 HG002 chr18:34049500:A:T 1,.,. -1 -1 -1 -1 -1 -1 NOL4 50_intron 43,.,. 0.488372,.,. NOL4/intron/ 1.0000 0.1967 0.3260 0 dominant HG002 HG002 chr18:34518030:C:T 1,.,. -1 -1 -1 -1 -1 -1 DTNA 50_intron 33,.,. 0.545455,.,. DTNA/intron/ 0.4023 0.4044 0.5230 1 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2;Left ventricular noncompaction 1 0.000 recessive HG002 HG002 chr18:34951269:G:C 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr18:34951270:T:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr18:35029709:C:A 1,.,. -1 -1 -1 -1 -1 -1 MAPRE2 50_intron 50,.,. 0.56,.,. MAPRE2/intron/ 0.9857 0.3108 0.4940 1 Skin creases, congenital symmetric circumferential, 2 0.000 recessive HG002 HG002 chr18:35581579:G:GCAGC 2,.,. -1 -1 -1 -1 -1 -1 GALNT1 53_non_coding 42,.,. 1,.,. GALNT1/non_coding/ 1.0000 0.2114 0.3590 0 recessive HG002 HG002 chr18:35581581:C:G 2,.,. -1 -1 -1 -1 -1 -1 GALNT1 53_non_coding 42,.,. 1,.,. GALNT1/non_coding/ 1.0000 0.2114 0.3590 0 recessive HG002 HG002 chr18:35581589:G:GGC 2,.,. -1 -1 -1 -1 -1 -1 GALNT1 53_non_coding 42,.,. 1,.,. GALNT1/non_coding/ 1.0000 0.2114 0.3590 0 recessive HG002 HG002 chr18:35581590:C:G 2,.,. -1 -1 -1 -1 -1 -1 GALNT1 53_non_coding 42,.,. 1,.,. GALNT1/non_coding/ 1.0000 0.2114 0.3590 0 recessive HG002 HG002 chr18:35581616:CCG:C 2,.,. -1 -1 -1 -1 -1 -1 GALNT1 53_non_coding 42,.,. 1,.,. GALNT1/non_coding/ 1.0000 0.2114 0.3590 0 recessive HG002 HG002 chr18:35581619:C:G 2,.,. -1 -1 -1 -1 -1 -1 GALNT1 53_non_coding 42,.,. 1,.,. GALNT1/non_coding/ 1.0000 0.2114 0.3590 0 recessive HG002 HG002 chr18:35581783:C:CCCGCGCT 2,.,. -1 -1 -1 -1 -1 -1 GALNT1 35_5_prime_utr 42,.,. 1,.,. GALNT1/5_prime_utr/ENST00000591924 1.0000 0.2114 0.3590 0 recessive HG002 HG002 chr18:35581786:T:G 2,.,. 0.0016835 0 1 -1 -1 -1 GALNT1 35_5_prime_utr 42,.,. 1,.,. GALNT1/5_prime_utr/ENST00000591924 1.0000 0.2114 0.3590 0 recessive HG002 HG002 chr18:35581788:G:C 2,.,. 7.03215e-06 0 1 -1 -1 -1 GALNT1 35_5_prime_utr 41,.,. 1,.,. GALNT1/5_prime_utr/ENST00000591924 1.0000 0.2114 0.3590 0 recessive HG002 HG002 chr18:35581906:C:G 2,.,. -1 -1 -1 -1 -1 -1 GALNT1 50_intron 42,.,. 1,.,. GALNT1/non_coding/;GALNT1/intron/ 1.0000 0.2114 0.3590 0 recessive HG002 HG002 chr18:35581907:T:C 2,.,. -1 -1 -1 -1 -1 -1 GALNT1 50_intron 42,.,. 1,.,. GALNT1/non_coding/;GALNT1/intron/ 1.0000 0.2114 0.3590 0 recessive HG002 HG002 chr18:35581908:G:T 2,.,. -1 -1 -1 -1 -1 -1 GALNT1 50_intron 41,.,. 1,.,. GALNT1/non_coding/;GALNT1/intron/ 1.0000 0.2114 0.3590 0 dominant HG002 HG002 chr18:35784967:A:AT 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr18:36512690:CCATAGGTAA:C 1,.,. -1 -1 -1 -1 -1 -1 FHOD3 50_intron 35,.,. 0.714286,.,. FHOD3/intron/;FHOD3/non_coding/ 0.0000 0.4911 0.5950 2 Cardiomyopathy, familial hypertrophic, 28 0.000 dominant HG002 HG002 chr18:36512701:A:T 1,.,. -1 -1 -1 -1 -1 -1 FHOD3 50_intron 34,.,. 0.735294,.,. FHOD3/intron/;FHOD3/non_coding/ 0.0000 0.4911 0.5950 2 Cardiomyopathy, familial hypertrophic, 28 0.000 dominant HG002 HG002 chr18:36973826:C:CACACAT 1,.,. -1 -1 -1 -1 -1 -1 KIAA1328 50_intron 38,.,. 0.605263,.,. KIAA1328/intron/ 0.0000 0.8423 1.0890 5 recessive HG002 HG002 chr18:37566181:G:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr18:37784487:TTC:T 2,.,. 0.02 0 1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr18:37784490:G:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr18:38067386:A:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.543478,.,. dominant HG002 HG002 chr18:38464180:GCAT:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr18:38464184:C:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr18:39036142:TATGTA:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr18:39036148:C:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr18:39790968:A:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.580645,.,. recessive HG002 HG002 chr18:40112989:TAC:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr18:40112993:T:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr18:40666967:G:A 1,.,. 1.31377e-05 0 2 -1 -1 -1 62,.,. 0.387097,.,. dominant HG002 HG002 chr18:40722457:G:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.6,.,. dominant HG002 HG002 chr18:40853347:TCTC:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr18:40853352:G:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.472222,.,. recessive HG002 HG002 chr18:41288376:C:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr18:41484362:A:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr18:42383407:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr18:42383408:G:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr18:42383409:T:A 1,.,. -1 -1 -1 0.00105116 0 3 37,.,. 0.405405,.,. dominant HG002 HG002 chr18:42383411:T:A 1,.,. -1 -1 -1 0.00105116 0 3 37,.,. 0.405405,.,. dominant HG002 HG002 chr18:42383412:C:A 1,.,. -1 -1 -1 0.00105116 0 3 37,.,. 0.405405,.,. recessive HG002 HG002 chr18:42442478:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr18:42933746:G:A 1,.,. -1 -1 -1 -1 -1 -1 RIT2 50_intron 39,.,. 0.435897,.,. RIT2/intron/;RIT2/non_coding/ 0.0000 1.1264 1.6840 8 dominant HG002 HG002 chr18:42946203:G:C 1,.,. -1 -1 -1 -1 -1 -1 RIT2 50_intron 47,.,. 0.382979,.,. RIT2/intron/;RIT2/non_coding/ 0.0000 1.1264 1.6840 8 dominant HG002 HG002 chr18:43211500:A:C 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.391304,.,. dominant HG002 HG002 chr18:43302142:G:A 1,.,. 1.97746e-05 0 3 -1 -1 -1 51,.,. 0.607843,.,. dominant HG002 HG002 chr18:43984814:A:G 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.418605,.,. dominant HG002 HG002 chr18:44362771:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.666667,.,. dominant HG002 HG002 chr18:44402109:A:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr18:44544073:T:A 1,.,. 2.53846e-05 0 2 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr18:44617237:A:T 1,.,. 1.31593e-05 0 2 -1 -1 -1 47,.,. 0.531915,.,. dominant HG002 HG002 chr18:44868689:AGAGAGAGAGGACGGAAGGAAGG:A 1,.,. 2.29207e-05 0 3 -1 -1 -1 SETBP1 50_intron 41,.,. 0.219512,.,. SETBP1/intron/ 1.0000 0.0792 0.1430 0 Intellectual disability, autosomal dominant 29;Schinzel-Giedion syndrome 0.000 dominant HG002 HG002 chr18:45022003:TACTGTTAACTG:T 1,.,. -1 -1 -1 -1 -1 -1 SETBP1 50_intron 31,.,. 0.612903,.,. SETBP1/intron/ 1.0000 0.0792 0.1430 0 Intellectual disability, autosomal dominant 29;Schinzel-Giedion syndrome 0.000 dominant HG002 HG002 chr18:45022016:A:T 1,.,. -1 -1 -1 -1 -1 -1 SETBP1 50_intron 31,.,. 0.612903,.,. SETBP1/intron/ 1.0000 0.0792 0.1430 0 Intellectual disability, autosomal dominant 29;Schinzel-Giedion syndrome 0.000 dominant HG002 HG002 chr18:45382307:A:ATAT 1,.,. -1 -1 -1 -1 -1 -1 SLC14A2 50_intron 46,.,. 0.391304,.,. SLC14A2/intron/ 0.0000 0.8424 1.0080 5 recessive HG002 HG002 chr18:46021429:G:GTA 2,.,. 0.000137678 0 3 -1 -1 -1 PSTPIP2 50_intron 37,.,. 1,.,. PSTPIP2/intron/;PSTPIP2/non_coding/ 0.0000 0.5721 0.7800 3 dominant HG002 HG002 chr18:46260699:C:G 1,.,. -1 -1 -1 -1 -1 -1 C18orf25 50_intron 40,.,. 0.525,.,. C18orf25/intron/ 0.1032 0.4397 0.6680 2 dominant HG002 HG002 chr18:46531579:T:TTCGTC 1,.,. -1 -1 -1 -1 -1 -1 LOXHD1 50_intron 33,.,. 0.424242,.,. LOXHD1/intron/;LOXHD1/non_coding/ 0.0000 0.7953 0.8960 4 Autosomal recessive nonsyndromic hearing loss 77 0.000 dominant HG002 HG002 chr18:46531581:T:G 1,.,. -1 -1 -1 -1 -1 -1 LOXHD1 50_intron 34,.,. 0.441176,.,. LOXHD1/intron/;LOXHD1/non_coding/ 0.0000 0.7953 0.8960 4 Autosomal recessive nonsyndromic hearing loss 77 0.000 dominant HG002 HG002 chr18:46592285:C:CA 1,.,. 6.57834e-06 0 1 -1 -1 -1 LOXHD1 50_intron 34,.,. 0.5,.,. LOXHD1/intron/;LOXHD1/non_coding/ 0.0000 0.7953 0.8960 4 Autosomal recessive nonsyndromic hearing loss 77 0.000 dominant HG002 HG002 chr18:46650703:AGAAT:A 1,.,. -1 -1 -1 -1 -1 -1 LOXHD1 50_intron 34,.,. 0.588235,.,. LOXHD1/intron/ 0.0000 0.7953 0.8960 4 Autosomal recessive nonsyndromic hearing loss 77 0.000 dominant HG002 HG002 chr18:46650708:G:T 1,.,. -1 -1 -1 -1 -1 -1 LOXHD1 50_intron 34,.,. 0.588235,.,. LOXHD1/intron/ 0.0000 0.7953 0.8960 4 Autosomal recessive nonsyndromic hearing loss 77 0.000 dominant HG002 HG002 chr18:47196188:A:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.5,.,. dominant HG002 HG002 chr18:47198577:AAAAAAAAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.348837,.,. dominant HG002 HG002 chr18:47275498:A:C 1,.,. 1.31394e-05 0 2 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr18:47277658:G:A 1,.,. 1.96962e-05 0 3 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr18:47360902:A:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.354839,.,. recessive HG002 HG002 chr18:47398965:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr18:47398966:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr18:47398969:G:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr18:47694819:CAACAAAAAAAAAAAA:C 2,.,. -1 -1 -1 0.0024527 0 7 19,.,. 1,.,. dominant HG002 HG002 chr18:48359345:AGAT:A 1,.,. -1 -1 -1 -1 -1 -1 ZBTB7C 50_intron 34,.,. 0.441176,.,. ZBTB7C/intron/ 0.7193 0.3486 0.6290 2 dominant HG002 HG002 chr18:48359349:G:A 1,.,. -1 -1 -1 -1 -1 -1 ZBTB7C 50_intron 35,.,. 0.457143,.,. ZBTB7C/intron/ 0.7193 0.3486 0.6290 2 dominant HG002 HG002 chr18:48359350:A:G 1,.,. -1 -1 -1 -1 -1 -1 ZBTB7C 50_intron 35,.,. 0.457143,.,. ZBTB7C/intron/ 0.7193 0.3486 0.6290 2 dominant HG002 HG002 chr18:48986472:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.470588,.,. recessive HG002 HG002 chr18:49758177:C:T 2,.,. -1 -1 -1 0.0122635 2 35 26,.,. 1,.,. recessive HG002 HG002 chr18:49769942:A:T 2,.,. -1 -1 -1 0.000700771 0 2 25,.,. 1,.,. dominant HG002 HG002 chr18:49974788:C:CACACACACACAG 1,.,. -1 -1 -1 -1 -1 -1 MYO5B 50_intron 35,.,. 0.4,.,. MYO5B/intron/ 0.0000 0.6142 0.7070 2 Congenital microvillous atrophy;Cholestasis, progressive familial intrahepatic, 10 0.000 dominant HG002 HG002 chr18:50093199:CACACACAG:C 1,.,. 9.2348e-06 0 1 -1 -1 -1 MYO5B 50_intron 30,.,. 0.433333,.,. MYO5B/intron/;MYO5B/non_coding/ 0.0000 0.6142 0.7070 2 Congenital microvillous atrophy;Cholestasis, progressive familial intrahepatic, 10 0.000 dominant HG002 HG002 chr18:50093209:C:G 1,.,. -1 -1 -1 -1 -1 -1 MYO5B 50_intron 30,.,. 0.433333,.,. MYO5B/intron/;MYO5B/non_coding/ 0.0000 0.6142 0.7070 2 Congenital microvillous atrophy;Cholestasis, progressive familial intrahepatic, 10 0.000 dominant HG002 HG002 chr18:50104173:G:A 1,.,. -1 -1 -1 -1 -1 -1 MYO5B 50_intron 37,.,. 0.567568,.,. MYO5B/intron/ 0.0000 0.6142 0.7070 2 Congenital microvillous atrophy;Cholestasis, progressive familial intrahepatic, 10 0.000 dominant HG002 HG002 chr18:50371128:G:GAAACA 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr18:50423734:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr18:50568195:CA:C 1,.,. -1 -1 -1 0.00105116 0 3 MAPK4 50_intron 33,.,. 0.393939,.,. MAPK4/intron/ 0.0011 0.5265 0.7520 3 recessive HG002 HG002 chr18:50840502:C:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:50840503:T:TCTC 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr18:50947322:C:T 1,.,. -1 -1 -1 -1 -1 -1 ME2 36_3_prime_utr 37,.,. 0.513514,.,. ME2/3_prime_utr&NMD_transcript/ENST00000639115;ME2/3_prime_utr&NMD_transcript/ENST00000640967;ME2/3_prime_utr&NMD_transcript/ENST00000640530;ME2/3_prime_utr&NMD_transcript/ENST00000639398;ME2/3_prime_utr&NMD_transcript/ENST00000585680;ME2/3_prime_utr/ENST00000638937;ME2/3_prime_utr&NMD_transcript/ENST00000639665;ME2/3_prime_utr/ENST00000638410;ME2/3_prime_utr/ENST00000382927;ME2/3_prime_utr/ENST00000321341;ME2/3_prime_utr/ENST00000640965;ME2/3_prime_utr/ENST00000639850;ME2/3_prime_utr/ENST00000639255 0.0001 0.7102 1.0650 5 dominant HG002 HG002 chr18:51033162:G:C 1,.,. -1 -1 -1 -1 -1 -1 AC091551.1;SMAD4 50_intron 46,.,. 0.413043,.,. AC091551.1/intron/;AC091551.1/non_coding/;SMAD4/intron/ 1.0000 0.1079 0.2270 0 Myhre syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Familial pancreatic carcinoma;Juvenile polyposis syndrome 0.000 dominant HG002 HG002 chr18:51084004:GCGCGCGCGCACACA:G 1,.,. -1 -1 -1 0.00105116 1 3 SMAD4 36_3_prime_utr 44,.,. 0.522727,.,. SMAD4/3_prime_utr/ENST00000398417;SMAD4/3_prime_utr/ENST00000342988 1.0000 0.1079 0.2270 0 Myhre syndrome;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;Familial pancreatic carcinoma;Juvenile polyposis syndrome 0.000 dominant HG002 HG002 chr18:51377703:TA:T 1,.,. -1 -1 -1 0.00140154 0 4 40,.,. 0.425,.,. dominant HG002 HG002 chr18:51475215:A:G 1,.,. 2.62912e-05 0 4 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr18:51516179:A:AATATATATATATATAT 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.214286,.,. dominant HG002 HG002 chr18:51796671:T:G 1,.,. 1.88633e-05 0 2 -1 -1 -1 39,.,. 0.538462,.,. recessive HG002 HG002 chr18:51847860:T:TAAGGGA 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr18:51847861:G:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr18:51989207:G:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.522727,.,. dominant HG002 HG002 chr18:52032504:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr18:52032505:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr18:52186445:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.606061,.,. dominant HG002 HG002 chr18:52217642:A:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.564103,.,. dominant HG002 HG002 chr18:52309746:TATTTCTATATATA:T 1,.,. 4.32015e-05 0 3 -1 -1 -1 46,.,. 0.543478,.,. dominant HG002 HG002 chr18:52398118:T:A 1,.,. -1 -1 -1 -1 -1 -1 DCC 50_intron 34,.,. 0.5,.,. DCC/intron/ 1.0000 0.3230 0.4140 1 Malignant tumor of esophagus;Colorectal cancer;Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 0.000 dominant HG002 HG002 chr18:52398120:T:A 1,.,. -1 -1 -1 -1 -1 -1 DCC 50_intron 34,.,. 0.5,.,. DCC/intron/ 1.0000 0.3230 0.4140 1 Malignant tumor of esophagus;Colorectal cancer;Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 0.000 dominant HG002 HG002 chr18:52398121:G:T 1,.,. -1 -1 -1 -1 -1 -1 DCC 50_intron 34,.,. 0.5,.,. DCC/intron/ 1.0000 0.3230 0.4140 1 Malignant tumor of esophagus;Colorectal cancer;Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 0.000 dominant HG002 HG002 chr18:52398122:A:ATTGGGGTAATG 1,.,. -1 -1 -1 -1 -1 -1 DCC 50_intron 34,.,. 0.5,.,. DCC/intron/ 1.0000 0.3230 0.4140 1 Malignant tumor of esophagus;Colorectal cancer;Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 0.000 dominant HG002 HG002 chr18:52535650:G:A 1,.,. -1 -1 -1 -1 -1 -1 DCC 50_intron 41,.,. 0.634146,.,. DCC/intron/ 1.0000 0.3230 0.4140 1 Malignant tumor of esophagus;Colorectal cancer;Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 0.000 dominant HG002 HG002 chr18:52922201:C:T 1,.,. -1 -1 -1 -1 -1 -1 DCC 50_intron 36,.,. 0.305556,.,. DCC/intron/ 1.0000 0.3230 0.4140 1 Malignant tumor of esophagus;Colorectal cancer;Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 0.000 dominant HG002 HG002 chr18:53101827:ATTTGTG:A 1,.,. 2.20242e-05 0 3 -1 -1 -1 DCC 50_intron 39,.,. 0.615385,.,. DCC/intron/;DCC/non_coding/ 1.0000 0.3230 0.4140 1 Malignant tumor of esophagus;Colorectal cancer;Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 0.000 dominant HG002 HG002 chr18:53326767:G:GAGTGTTTGGGAGATCAA 1,.,. -1 -1 -1 -1 -1 -1 DCC 50_intron 43,.,. 0.55814,.,. DCC/intron/ 1.0000 0.3230 0.4140 1 Malignant tumor of esophagus;Colorectal cancer;Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 0.000 dominant HG002 HG002 chr18:53326770:A:C 1,.,. -1 -1 -1 -1 -1 -1 DCC 50_intron 43,.,. 0.55814,.,. DCC/intron/ 1.0000 0.3230 0.4140 1 Malignant tumor of esophagus;Colorectal cancer;Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 0.000 dominant HG002 HG002 chr18:53426442:A:T 1,.,. -1 -1 -1 -1 -1 -1 DCC 50_intron 47,.,. 0.468085,.,. DCC/intron/ 1.0000 0.3230 0.4140 1 Malignant tumor of esophagus;Colorectal cancer;Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 0.000 dominant HG002 HG002 chr18:53426466:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 DCC 50_intron 46,.,. 0.456522,.,. DCC/intron/ 1.0000 0.3230 0.4140 1 Malignant tumor of esophagus;Colorectal cancer;Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 0.000 dominant HG002 HG002 chr18:53426478:T:A 1,.,. -1 -1 -1 -1 -1 -1 DCC 50_intron 47,.,. 0.468085,.,. DCC/intron/ 1.0000 0.3230 0.4140 1 Malignant tumor of esophagus;Colorectal cancer;Mirror movements 1;Gaze palsy, familial horizontal, with progressive scoliosis, 2 0.000 dominant HG002 HG002 chr18:53625478:T:TCAGA 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. dominant HG002 HG002 chr18:53625482:A:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.487805,.,. recessive HG002 HG002 chr18:53656984:AACATATGTAACATATGT:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr18:53657002:A:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr18:53684379:T:TACTA 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. dominant HG002 HG002 chr18:53699821:T:C 1,.,. 4.62107e-05 0 4 -1 -1 -1 49,.,. 0.306122,.,. recessive HG002 HG002 chr18:53703348:TTAATAAAGGTAAATAGC:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr18:53703367:A:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. dominant HG002 HG002 chr18:53708531:CACACAG:C 1,.,. -1 -1 -1 0.00140154 0 4 57,.,. 0.508772,.,. dominant HG002 HG002 chr18:53803691:C:CATGAT 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr18:53803692:C:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr18:53803694:T:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. recessive HG002 HG002 chr18:53863589:A:C 2,.,. 0.00538343 0 49 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr18:53863594:A:C 2,.,. 0.000392371 0 59 0.000700771 0 2 32,.,. 1,.,. dominant HG002 HG002 chr18:54343611:G:A 1,.,. -1 -1 -1 -1 -1 -1 STARD6 50_intron 37,.,. 0.540541,.,. STARD6/intron/ 0.0136 0.6315 1.1390 6 recessive HG002 HG002 chr18:54364144:CAT:C 2,.,. -1 -1 -1 -1 -1 -1 C18orf54 50_intron 43,.,. 1,.,. C18orf54/intron/;C18orf54/non_coding/ 0.0000 1.0254 1.3300 7 recessive HG002 HG002 chr18:54364147:A:T 2,.,. -1 -1 -1 -1 -1 -1 C18orf54 50_intron 47,.,. 1,.,. C18orf54/intron/;C18orf54/non_coding/ 0.0000 1.0254 1.3300 7 recessive HG002 HG002 chr18:54388620:A:AGT 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chr18:54708630:GCT:G 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr18:54708633:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr18:54858517:GGGACTA:G 1,.,. -1 -1 -1 -1 -1 -1 RAB27B 50_intron 46,.,. 0.369565,.,. RAB27B/intron/;RAB27B/non_coding/ 0.0082 0.5816 0.9630 4 dominant HG002 HG002 chr18:54858524:C:T 1,.,. -1 -1 -1 -1 -1 -1 RAB27B 50_intron 46,.,. 0.369565,.,. RAB27B/intron/;RAB27B/non_coding/ 0.0082 0.5816 0.9630 4 dominant HG002 HG002 chr18:55799930:TCTGGCTTTGTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGC:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.6,.,. recessive HG002 HG002 chr18:55826438:T:TTGATCCA 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr18:55826439:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr18:55826443:T:G 2,.,. -1 -1 -1 -1 -1 -1 48,.,. 1,.,. dominant HG002 HG002 chr18:55995987:T:TTCTG 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr18:56229767:G:GGT 1,.,. 9.54016e-05 0 3 -1 -1 -1 35,.,. 0.542857,.,. recessive HG002 HG002 chr18:56589900:G:A 2,.,. 0.00510445 4 777 0.00350385 0 10 43,.,. 1,.,. recessive HG002 HG002 chr18:56678484:A:G 2,.,. -1 -1 -1 -1 -1 -1 WDR7 50_intron 42,.,. 1,.,. WDR7/intron/ 1.0000 0.2753 0.3560 0 recessive HG002 HG002 chr18:56736333:G:C 2,.,. 0.00518622 4 789 0.00350385 0 10 WDR7 50_intron 30,.,. 1,.,. WDR7/intron/;WDR7/non_coding/ 1.0000 0.2753 0.3560 0 recessive HG002 HG002 chr18:57477270:C:A 2,.,. -1 -1 -1 -1 -1 -1 ONECUT2 36_3_prime_utr 40,.,. 1,.,. ONECUT2/3_prime_utr/ENST00000491143 0.3872 0.3991 0.6770 2 dominant HG002 HG002 chr18:57632069:T:TTTATTATTTATTTA 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.434783,.,. dominant HG002 HG002 chr18:57648876:G:GTGTA 1,.,. -1 -1 -1 -1 -1 -1 ATP8B1 50_intron 30,.,. 0.466667,.,. ATP8B1/intron/ 0.0000 0.5127 0.6200 2 Cholestasis, intrahepatic, of pregnancy, 1;Progressive familial intrahepatic cholestasis type 1;Benign recurrent intrahepatic cholestasis type 1 0.000 dominant HG002 HG002 chr18:57985674:A:AAG 1,.,. 8.47099e-05 0 2 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr18:57985678:A:G 1,.,. 8.55652e-05 0 2 -1 -1 -1 45,.,. 0.422222,.,. recessive HG002 HG002 chr18:58039304:C:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr18:58039307:TCCTG:T 2,.,. 0.00287356 0 4 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr18:58114674:T:C 1,.,. -1 -1 -1 -1 -1 -1 NEDD4L 50_intron 35,.,. 0.628571,.,. NEDD4L/intron/;NEDD4L/non_coding/ 0.9988 0.3248 0.4570 1 Periventricular nodular heterotopia 7 0.000 dominant HG002 HG002 chr18:58305810:T:G 1,.,. 2.62812e-05 0 4 -1 -1 -1 NEDD4L 50_intron 36,.,. 0.416667,.,. NEDD4L/intron/;NEDD4L/non_coding/ 0.9988 0.3248 0.4570 1 Periventricular nodular heterotopia 7 0.000 dominant HG002 HG002 chr18:58342073:T:C 1,.,. 2.62698e-05 0 4 -1 -1 -1 NEDD4L 50_intron 27,.,. 0.555556,.,. NEDD4L/intron/;NEDD4L/non_coding/ 0.9988 0.3248 0.4570 1 Periventricular nodular heterotopia 7 0.000 dominant HG002 HG002 chr18:58472525:A:AAAAGT 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr18:58472529:A:T 1,.,. 1.98536e-05 0 3 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr18:59139699:G:A 1,.,. 2.62788e-05 0 4 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr18:59300096:C:T 1,.,. -1 -1 -1 -1 -1 -1 CPLX4 50_intron 41,.,. 0.463415,.,. CPLX4/intron/ 0.0000 1.1381 1.7290 8 dominant HG002 HG002 chr18:59311868:C:T 1,.,. -1 -1 -1 -1 -1 -1 CPLX4 50_intron 37,.,. 0.432432,.,. CPLX4/intron/ 0.0000 1.1381 1.7290 8 dominant HG002 HG002 chr18:59509816:TTACTAAATTA:T 1,.,. -1 -1 -1 -1 -1 -1 CCBE1 50_intron 33,.,. 0.424242,.,. CCBE1/intron/ 0.0000 0.6974 0.9330 4 Hennekam lymphangiectasia-lymphedema syndrome 1 0.000 dominant HG002 HG002 chr18:59509827:C:G 1,.,. -1 -1 -1 -1 -1 -1 CCBE1 50_intron 33,.,. 0.424242,.,. CCBE1/intron/ 0.0000 0.6974 0.9330 4 Hennekam lymphangiectasia-lymphedema syndrome 1 0.000 dominant HG002 HG002 chr18:59509828:T:C 1,.,. -1 -1 -1 -1 -1 -1 CCBE1 50_intron 33,.,. 0.424242,.,. CCBE1/intron/ 0.0000 0.6974 0.9330 4 Hennekam lymphangiectasia-lymphedema syndrome 1 0.000 dominant HG002 HG002 chr18:59670154:C:CCTTA 1,.,. -1 -1 -1 -1 -1 -1 CCBE1 50_intron 37,.,. 0.513514,.,. CCBE1/intron/ 0.0000 0.6974 0.9330 4 Hennekam lymphangiectasia-lymphedema syndrome 1 0.000 dominant HG002 HG002 chr18:59670155:A:T 1,.,. -1 -1 -1 -1 -1 -1 CCBE1 50_intron 37,.,. 0.513514,.,. CCBE1/intron/ 0.0000 0.6974 0.9330 4 Hennekam lymphangiectasia-lymphedema syndrome 1 0.000 dominant HG002 HG002 chr18:59834225:T:TTATCAAGGAAA 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr18:59834227:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.439024,.,. dominant HG002 HG002 chr18:59849717:AAAAAAAAGAGGAAG:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.285714,.,. recessive HG002 HG002 chr18:60504978:ATTGTTTTTTT:A 2,.,. 0.00155874 0 88 0.0112123 1 32 36,.,. 1,.,. dominant HG002 HG002 chr18:60817197:AAT:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.531915,.,. dominant HG002 HG002 chr18:60817200:G:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.543478,.,. dominant HG002 HG002 chr18:61140656:A:ATTTAT 1,.,. 1.98041e-05 0 3 -1 -1 -1 42,.,. 0.595238,.,. dominant HG002 HG002 chr18:61910448:AAAGAG:A 1,.,. -1 -1 -1 -1 -1 -1 PIGN 50_intron 25,.,. 0.28,.,. PIGN/intron/ 0.0000 1.0457 1.4600 8 Multiple congenital anomalies-hypotonia-seizures syndrome 1 0.000 recessive HG002 HG002 chr18:62125169:T:C 2,.,. -1 -1 -1 -1 -1 -1 PIGN 50_intron 57,.,. 1,.,. PIGN/intron/;PIGN/non_coding/ 0.0000 1.0457 1.4600 8 Multiple congenital anomalies-hypotonia-seizures syndrome 1 0.000 recessive HG002 HG002 chr18:62375085:G:T 2,.,. 0.00457638 1 265 0.0115627 1 33 TNFRSF11A 50_intron 35,.,. 1,.,. TNFRSF11A/intron/ 0.0000 0.6603 0.8790 4 Familial expansile osteolysis;Paget disease of bone 2, early-onset;Autosomal recessive osteopetrosis 7 0.000 dominant HG002 HG002 chr18:62907388:A:G 1,.,. -1 -1 -1 -1 -1 -1 PHLPP1 50_intron 38,.,. 0.631579,.,. PHLPP1/intron/;PHLPP1/non_coding/ 0.2219 0.4121 0.5460 1 dominant HG002 HG002 chr18:63095329:G:T 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.363636,.,. dominant HG002 HG002 chr18:63095330:T:G 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.347826,.,. dominant HG002 HG002 chr18:63095331:G:T 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.363636,.,. dominant HG002 HG002 chr18:63095333:A:ACC 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.363636,.,. dominant HG002 HG002 chr18:63138705:G:A 1,.,. 6.57013e-06 0 1 -1 -1 -1 BCL2 50_intron 29,.,. 0.62069,.,. BCL2/intron/;BCL2/non_coding/ 0.9890 0.0776 0.3680 0 0.000 dominant HG002 HG002 chr18:63462600:T:A 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.52,.,. dominant HG002 HG002 chr18:63462602:A:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.5,.,. dominant HG002 HG002 chr18:63462603:A:G 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.5,.,. dominant HG002 HG002 chr18:63462607:T:A 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.5,.,. dominant HG002 HG002 chr18:63462608:TTTAGG:T 1,.,. 6.60319e-06 0 1 -1 -1 -1 26,.,. 0.5,.,. dominant HG002 HG002 chr18:63465447:CTTTTTTTTTTT:C 1,.,. 3.5246e-05 0 4 0.000700771 0 2 22,.,. 0.636364,.,. recessive HG002 HG002 chr18:64502407:C:CGA 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr18:64502409:A:C 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr18:64598409:A:C 2,.,. 0.000357567 1 44 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr18:64598416:G:A 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr18:64598417:T:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr18:64700750:T:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr18:64700751:G:GCTGAAAACA 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr18:64875679:A:T 2,.,. 0.000415091 0 63 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr18:65019395:C:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.527778,.,. dominant HG002 HG002 chr18:65101149:A:AACT 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.555556,.,. dominant HG002 HG002 chr18:65101151:T:G 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.545455,.,. dominant HG002 HG002 chr18:65101152:G:C 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.545455,.,. dominant HG002 HG002 chr18:65396912:C:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr18:65479161:A:T 1,.,. 9.01128e-06 0 1 -1 -1 -1 47,.,. 0.489362,.,. recessive HG002 HG002 chr18:66211158:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr18:66211159:A:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr18:66211161:TGCAGTAACTA:T 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr18:66521927:G:T 1,.,. 1.11824e-05 0 1 -1 -1 -1 CDH19 50_intron 46,.,. 0.521739,.,. CDH19/intron/ 0.0000 0.8057 1.1050 6 dominant HG002 HG002 chr18:66694733:T:C 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.347826,.,. dominant HG002 HG002 chr18:66736911:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.428571,.,. recessive HG002 HG002 chr18:66810747:GCTCAA:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr18:66810753:A:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr18:67294556:C:T 1,.,. -1 -1 -1 0.00105116 0 3 26,.,. 0.5,.,. dominant HG002 HG002 chr18:67776312:ACACACACACATCTATC:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. recessive HG002 HG002 chr18:68026236:C:CTA 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr18:68026240:T:G 2,.,. 2.64873e-05 0 4 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr18:68125046:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.384615,.,. dominant HG002 HG002 chr18:68148347:C:G 1,.,. 2.63047e-05 0 4 -1 -1 -1 49,.,. 0.510204,.,. recessive HG002 HG002 chr18:68205912:CCTCTCTCACAG:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr18:68205924:T:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr18:68358722:GAGTT:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.591837,.,. dominant HG002 HG002 chr18:68358727:T:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.568627,.,. dominant HG002 HG002 chr18:68598713:GAGAC:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. dominant HG002 HG002 chr18:68598719:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. dominant HG002 HG002 chr18:68782379:A:C 1,.,. -1 -1 -1 -1 -1 -1 CCDC102B 50_intron 44,.,. 0.545455,.,. CCDC102B/intron/ 0.0000 1.2800 1.5840 8 dominant HG002 HG002 chr18:68824544:G:A 1,.,. 6.57177e-06 0 1 -1 -1 -1 CCDC102B 50_intron 44,.,. 0.522727,.,. CCDC102B/intron/;CCDC102B/non_coding/ 0.0000 1.2800 1.5840 8 dominant HG002 HG002 chr18:68834964:C:A 1,.,. -1 -1 -1 -1 -1 -1 CCDC102B 50_intron 49,.,. 0.367347,.,. CCDC102B/intron/;CCDC102B/non_coding/ 0.0000 1.2800 1.5840 8 recessive HG002 HG002 chr18:69139475:A:AAC 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr18:69139476:C:A 2,.,. 6.56789e-06 0 1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr18:69160641:CTGTAGTTA:C 2,.,. 0.000796377 0 121 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr18:69160651:G:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr18:69268757:A:AAAGT 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr18:69321811:T:TTA 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr18:69321812:A:T 1,.,. 6.59735e-06 0 1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr18:69427399:ATCAT:A 1,.,. -1 -1 -1 -1 -1 -1 DOK6 50_intron 37,.,. 0.405405,.,. DOK6/intron/ 0.0199 0.4715 0.6920 2 dominant HG002 HG002 chr18:69427404:T:G 1,.,. -1 -1 -1 -1 -1 -1 DOK6 50_intron 37,.,. 0.405405,.,. DOK6/intron/ 0.0199 0.4715 0.6920 2 dominant HG002 HG002 chr18:69427405:G:A 1,.,. -1 -1 -1 -1 -1 -1 DOK6 50_intron 37,.,. 0.405405,.,. DOK6/intron/ 0.0199 0.4715 0.6920 2 dominant HG002 HG002 chr18:69852161:A:T 1,.,. -1 -1 -1 -1 -1 -1 CD226 50_intron 50,.,. 0.6,.,. CD226/intron/ 0.0000 0.6896 1.0120 5 dominant HG002 HG002 chr18:69880353:A:AAAGGAAGGAAGG 1,.,. -1 -1 -1 -1 -1 -1 CD226 50_intron 35,.,. 0.428571,.,. CD226/intron/ 0.0000 0.6896 1.0120 5 dominant HG002 HG002 chr18:69894420:A:AAGGGAGGGAGGGAGGG 1,.,. -1 -1 -1 0.00105116 0 3 CD226 50_intron 9,.,. 0.777778,.,. CD226/intron/ 0.0000 0.6896 1.0120 5 dominant HG002 HG002 chr18:69901221:T:C 1,.,. -1 -1 -1 -1 -1 -1 CD226 50_intron 30,.,. 0.466667,.,. CD226/intron/ 0.0000 0.6896 1.0120 5 dominant HG002 HG002 chr18:70657770:C:CACACAA 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.352941,.,. dominant HG002 HG002 chr18:70988377:A:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.333333,.,. recessive HG002 HG002 chr18:70990232:CAAAGG:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr18:70990239:C:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr18:71075871:T:A 2,.,. 0.000294811 0 1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr18:71075872:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr18:71075873:TGCTTAA:T 2,.,. 0.000269978 0 1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr18:71205907:T:TATCC 2,.,. 2.75649e-05 0 1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr18:71205921:C:A 2,.,. 0.000242767 1 34 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr18:71411826:C:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr18:71663891:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.333333,.,. recessive HG002 HG002 chr18:71804908:A:C 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr18:71804910:C:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. dominant HG002 HG002 chr18:71835664:A:ACTCT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr18:72255484:A:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.595745,.,. dominant HG002 HG002 chr18:72291649:A:AACAC 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.477273,.,. dominant HG002 HG002 chr18:72365749:T:C 1,.,. 1.97402e-05 0 3 -1 -1 -1 41,.,. 0.512195,.,. recessive HG002 HG002 chr18:72367557:T:TTGTGTG 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr18:72666230:T:A 2,.,. 0.000299412 0 16 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr18:72666239:T:A 2,.,. -1 -1 -1 0.00560617 0 16 40,.,. 1,.,. recessive HG002 HG002 chr18:72702856:TTATAATAATAATA:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr18:72702871:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr18:72702872:A:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr18:72763595:T:TCA 1,.,. -1 -1 -1 -1 -1 -1 NETO1 50_intron 66,.,. 0.469697,.,. NETO1/intron/ 0.4020 0.4019 0.5840 2 dominant HG002 HG002 chr18:72781869:T:TACATG 1,.,. -1 -1 -1 -1 -1 -1 NETO1 50_intron 49,.,. 0.387755,.,. NETO1/intron/ 0.4020 0.4019 0.5840 2 dominant HG002 HG002 chr18:72781871:C:G 1,.,. -1 -1 -1 -1 -1 -1 NETO1 50_intron 49,.,. 0.387755,.,. NETO1/intron/ 0.4020 0.4019 0.5840 2 dominant HG002 HG002 chr18:72781872:G:C 1,.,. -1 -1 -1 -1 -1 -1 NETO1 50_intron 48,.,. 0.395833,.,. NETO1/intron/ 0.4020 0.4019 0.5840 2 dominant HG002 HG002 chr18:72781873:G:A 1,.,. -1 -1 -1 -1 -1 -1 NETO1 50_intron 49,.,. 0.387755,.,. NETO1/intron/ 0.4020 0.4019 0.5840 2 dominant HG002 HG002 chr18:72925053:A:G 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.66,.,. dominant HG002 HG002 chr18:73040886:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr18:73171986:C:CTATATAT 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr18:73325691:C:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.461538,.,. dominant HG002 HG002 chr18:73395966:G:T 1,.,. 6.57601e-06 0 1 -1 -1 -1 41,.,. 0.560976,.,. recessive HG002 HG002 chr18:73423577:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr18:73482799:G:A 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr18:73531241:CAAGAAAAAAAA:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.368421,.,. dominant HG002 HG002 chr18:73531258:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.375,.,. dominant HG002 HG002 chr18:73638021:C:T 1,.,. 1.31465e-05 0 2 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr18:74158485:G:A 1,.,. -1 -1 -1 -1 -1 -1 TIMM21 36_3_prime_utr 30,.,. 0.566667,.,. TIMM21/3_prime_utr/ENST00000579071;TIMM21/3_prime_utr/ENST00000169551 0.0000 1.0183 1.3880 7 dominant HG002 HG002 chr18:74361668:A:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.520833,.,. recessive HG002 HG002 chr18:74744785:G:C 2,.,. 0.00177395 0 7 -1 -1 -1 ZNF407 50_intron 60,.,. 1,.,. ZNF407/intron/ 1.0000 0.1540 0.2260 0 Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies 0.000 dominant HG002 HG002 chr18:75110622:T:C 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.642857,.,. dominant HG002 HG002 chr18:75121834:C:CTCTT 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.333333,.,. dominant HG002 HG002 chr18:75426303:G:T 1,.,. -1 -1 -1 -1 -1 -1 SMIM21 50_intron 34,.,. 0.5,.,. SMIM21/intron/ 0.0033 0.9080 1.6460 8 dominant HG002 HG002 chr18:75604391:C:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.555556,.,. recessive HG002 HG002 chr18:76044652:TAG:T 2,.,. 0.00677831 0 17 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr18:76044670:G:A 2,.,. 0.0221519 0 14 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr18:76186930:A:AGTGTATGT 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr18:76186935:G:A 1,.,. 6.59317e-06 0 1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr18:76192078:G:C 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.5,.,. recessive HG002 HG002 chr18:76239185:G:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chr18:76577014:A:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5625,.,. dominant HG002 HG002 chr18:76628761:T:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chr18:76793982:G:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr18:77068398:TGAC:T 1,.,. -1 -1 -1 -1 -1 -1 MBP 50_intron 39,.,. 0.487179,.,. MBP/intron/;MBP/non_coding/ 0.1122 0.4396 0.6770 2 dominant HG002 HG002 chr18:77068403:A:C 1,.,. -1 -1 -1 -1 -1 -1 MBP 50_intron 39,.,. 0.487179,.,. MBP/intron/;MBP/non_coding/ 0.1122 0.4396 0.6770 2 dominant HG002 HG002 chr18:77100522:T:G 1,.,. -1 -1 -1 -1 -1 -1 MBP 50_intron 29,.,. 0.37931,.,. MBP/intron/;MBP/non_coding/ 0.1122 0.4396 0.6770 2 dominant HG002 HG002 chr18:77199984:CTTTTA:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.647059,.,. dominant HG002 HG002 chr18:77199994:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.628571,.,. dominant HG002 HG002 chr18:77199996:C:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.628571,.,. dominant HG002 HG002 chr18:77247978:G:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.666667,.,. dominant HG002 HG002 chr18:77256502:A:T 1,.,. -1 -1 -1 -1 -1 -1 GALR1 50_intron 19,.,. 0.263158,.,. GALR1/intron/ 0.0379 0.5448 0.9830 4 dominant HG002 HG002 chr18:77256503:GTGCA:G 1,.,. 2.5236e-05 0 1 -1 -1 -1 GALR1 50_intron 19,.,. 0.263158,.,. GALR1/intron/ 0.0379 0.5448 0.9830 4 dominant HG002 HG002 chr18:77258581:C:CATGGTGGTGATGGTGGTGGTCATGGTGGTGATGGTGGTGGTGGTG 1,.,. -1 -1 -1 0.000700771 0 2 GALR1 50_intron 19,.,. 0.578947,.,. GALR1/intron/ 0.0379 0.5448 0.9830 4 dominant HG002 HG002 chr18:77259408:G:GTGA 1,.,. -1 -1 -1 -1 -1 -1 GALR1 50_intron 21,.,. 0.52381,.,. GALR1/intron/ 0.0379 0.5448 0.9830 4 recessive HG002 HG002 chr18:77575811:T:C 2,.,. 2.62843e-05 0 4 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr18:77670634:A:G 2,.,. -1 -1 -1 0.00210231 2 6 22,.,. 1,.,. recessive HG002 HG002 chr18:77670635:G:T 2,.,. -1 -1 -1 0.00280308 2 8 22,.,. 1,.,. dominant HG002 HG002 chr18:77681159:A:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr18:77749622:C:G 1,.,. 1.31511e-05 0 2 -1 -1 -1 31,.,. 0.451613,.,. dominant HG002 HG002 chr18:77974544:T:TGATAGACA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr18:78041170:TTACAATTTACTTGGTTTGGGGGCTTAGATTCACAGATGGTTTCTTTCGCTTTA:T 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr18:78041224:A:AGT 1,.,. -1 -1 -1 -1 -1 -1 43,.,. 0.488372,.,. dominant HG002 HG002 chr18:78132877:T:TCGCA 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr18:78132879:A:T 1,.,. 6.58094e-06 0 1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr18:78232484:T:A 1,.,. -1 -1 -1 -1 -1 -1 12,.,. 0.583333,.,. recessive HG002 HG002 chr18:78375480:A:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr18:78375481:A:ATTTT 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr18:78375482:A:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr18:78375484:T:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr18:78375485:C:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr18:78404189:G:GGTGTGTGGGTGT 1,.,. 1.63779e-05 0 2 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr18:78404200:G:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr18:78998230:AATTTATACT:A 1,.,. -1 -1 -1 -1 -1 -1 SALL3 36_3_prime_utr 18,.,. 0.555556,.,. SALL3/3_prime_utr/ENST00000537592 0.0004 0.5358 0.7540 3 dominant HG002 HG002 chr18:78998242:T:A 1,.,. -1 -1 -1 -1 -1 -1 SALL3 36_3_prime_utr 18,.,. 0.555556,.,. SALL3/3_prime_utr/ENST00000537592 0.0004 0.5358 0.7540 3 dominant HG002 HG002 chr18:79034020:T:TGACTCTCACCCTCCACCCAGGCATCCTGGTTCTAGATTCAGTCCTCATGGCTGCCATGTCTCATAGCCTTCCAC 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.333333,.,. dominant HG002 HG002 chr18:79327467:GTTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCT:G 1,.,. -1 -1 -1 0.00105116 0 3 ATP9B 50_intron 35,.,. 0.457143,.,. ATP9B/intron/;ATP9B/non_coding/ 0.0000 0.7114 0.8570 3 dominant HG002 HG002 chr18:79386287:G:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5625,.,. dominant HG002 HG002 chr18:79495904:A:G 1,.,. 1.31565e-05 0 2 -1 -1 -1 NFATC1 50_intron 18,.,. 0.722222,.,. NFATC1/intron/;NFATC1/non_coding/ 0.9982 0.3256 0.4610 1 dominant HG002 HG002 chr18:79521000:T:G 1,.,. -1 -1 -1 0.000700771 0 2 NFATC1 50_intron 13,.,. 0.461538,.,. NFATC1/intron/;NFATC1/non_coding/ 0.9982 0.3256 0.4610 1 dominant HG002 HG002 chr18:79683318:A:G 1,.,. 1.31354e-05 0 2 -1 -1 -1 CTDP1 50_intron 31,.,. 0.548387,.,. CTDP1/intron/;CTDP1/non_coding/ 0.0000 0.5023 0.6500 2 Congenital cataracts-facial dysmorphism-neuropathy syndrome 0.000 dominant HG002 HG002 chr18:79730465:A:G 1,.,. -1 -1 -1 -1 -1 -1 CTDP1 50_intron 32,.,. 0.5625,.,. CTDP1/intron/ 0.0000 0.5023 0.6500 2 Congenital cataracts-facial dysmorphism-neuropathy syndrome 0.000 dominant HG002 HG002 chr18:79730466:T:TCATTCGATATCAAAGGG 1,.,. -1 -1 -1 -1 -1 -1 CTDP1 50_intron 30,.,. 0.566667,.,. CTDP1/intron/ 0.0000 0.5023 0.6500 2 Congenital cataracts-facial dysmorphism-neuropathy syndrome 0.000 recessive HG002 HG002 chr18:79865922:A:G 2,.,. -1 -1 -1 -1 -1 -1 KCNG2 50_intron 18,.,. 1,.,. KCNG2/intron/ 0.0005 1.5624 1.9380 9 recessive HG002 HG002 chr18:79952593:G:GGGGTGAGGGGCGCGC 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr18:79952611:A:C 2,.,. -1 -1 -1 0.0133146 3 38 17,.,. 1,.,. recessive HG002 HG002 chr18:79952615:T:C 2,.,. -1 -1 -1 0.0115627 0 33 17,.,. 1,.,. recessive HG002 HG002 chr18:80041731:TTTTC:T 2,.,. -1 -1 -1 -1 -1 -1 AC090360.1;RBFA 50_intron 33,.,. 1,.,. AC090360.1/intron/;RBFA/intron/;RBFA/non_coding/ 0.0071 0.5902 0.9770 4 recessive HG002 HG002 chr18:80054704:C:G 2,.,. -1 -1 -1 -1 -1 -1 AC090360.1 50_intron 29,.,. 1,.,. AC090360.1/intron/ dominant HG002 HG002 chr18:80092352:G:T 1,.,. -1 -1 -1 -1 -1 -1 AC090360.1 50_intron 35,.,. 0.542857,.,. AC090360.1/intron/;AC090360.1/non_coding/ dominant HG002 HG002 chr18:80092354:G:T 1,.,. -1 -1 -1 -1 -1 -1 AC090360.1 50_intron 36,.,. 0.444444,.,. AC090360.1/intron/;AC090360.1/non_coding/ recessive HG002 HG002 chr19:472957:GACTGAGGCCCAGGCAGAGATACATGGTCACAGATGGGGAA:G 2,.,. 0.00153502 0 177 -1 -1 -1 ODF3L2 50_intron 13,.,. 1,.,. ODF3L2/intron/ 0.0005 1.6008 1.9410 9 dominant HG002 HG002 chr19:520116:G:T 1,.,. -1 -1 -1 -1 -1 -1 8,.,. 0.625,.,. dominant HG002 HG002 chr19:523377:AGCAT:A 1,.,. -1 -1 -1 -1 -1 -1 8,.,. 0.75,.,. dominant HG002 HG002 chr19:523384:C:T 1,.,. -1 -1 -1 -1 -1 -1 8,.,. 0.75,.,. recessive HG002 HG002 chr19:573070:A:ATCTCG 2,.,. -1 -1 -1 -1 -1 -1 BSG 50_intron 14,.,. 1,.,. BSG/intron/;BSG/non_coding/ 0.0000 0.9533 1.2540 7 BLOOD GROUP--OK recessive HG002 HG002 chr19:576962:T:G 2,.,. 9.25045e-05 0 14 -1 -1 -1 BSG 50_intron 16,.,. 1,.,. BSG/intron/;BSG/non_coding/ 0.0000 0.9533 1.2540 7 BLOOD GROUP--OK recessive HG002 HG002 chr19:580887:C:CAAG 2,.,. -1 -1 -1 -1 -1 -1 BSG 50_intron 17,.,. 1,.,. BSG/intron/;BSG/non_coding/ 0.0000 0.9533 1.2540 7 BLOOD GROUP--OK recessive HG002 HG002 chr19:580888:T:G 2,.,. -1 -1 -1 -1 -1 -1 BSG 50_intron 18,.,. 1,.,. BSG/intron/;BSG/non_coding/ 0.0000 0.9533 1.2540 7 BLOOD GROUP--OK recessive HG002 HG002 chr19:580891:A:G 2,.,. -1 -1 -1 -1 -1 -1 BSG 50_intron 18,.,. 1,.,. BSG/intron/;BSG/non_coding/ 0.0000 0.9533 1.2540 7 BLOOD GROUP--OK recessive HG002 HG002 chr19:597174:G:A 2,.,. 0.000866471 0 132 0.000700771 0 2 HCN2 50_intron 18,.,. 1,.,. HCN2/intron/ 0.1767 0.4230 0.6270 2 Epilepsy, idiopathic generalized, susceptibility to, 17 0.000 recessive HG002 HG002 chr19:759548:T:C 2,.,. 0.00115744 0 176 0.00140154 0 4 MISP 50_intron 26,.,. 1,.,. MISP/intron/;MISP/non_coding/ 0.0000 1.0117 1.2750 7 recessive HG002 HG002 chr19:759549:G:A 2,.,. 0.00111808 0 170 0.00140154 0 4 MISP 50_intron 26,.,. 1,.,. MISP/intron/;MISP/non_coding/ 0.0000 1.0117 1.2750 7 recessive HG002 HG002 chr19:759552:T:A 2,.,. 0.00114465 0 174 0.00140154 0 4 MISP 50_intron 25,.,. 1,.,. MISP/intron/;MISP/non_coding/ 0.0000 1.0117 1.2750 7 dominant HG002 HG002 chr19:847306:C:G 1,.,. 2.63748e-05 0 4 -1 -1 -1 PRTN3 50_intron 21,.,. 0.52381,.,. PRTN3/intron/ 0.0000 1.4270 1.8850 9 0.000 dominant HG002 HG002 chr19:852602:G:T 1,.,. -1 -1 -1 0.000700771 0 2 ELANE 50_intron 16,.,. 0.4375,.,. ELANE/intron/ 0.0004 0.7686 1.2450 7 Cyclical neutropenia;Neutropenia, severe congenital, 1, autosomal dominant 0.000 dominant HG002 HG002 chr19:855016:G:A 1,.,. -1 -1 -1 -1 -1 -1 ELANE 50_intron 17,.,. 0.588235,.,. ELANE/intron/ 0.0004 0.7686 1.2450 7 Cyclical neutropenia;Neutropenia, severe congenital, 1, autosomal dominant 0.000 dominant HG002 HG002 chr19:949192:C:T 1,.,. -1 -1 -1 -1 -1 -1 ARID3A 50_intron 13,.,. 0.692308,.,. ARID3A/intron/ 0.9983 0.2671 0.4420 1 dominant HG002 HG002 chr19:949194:CCAGGGG:C 1,.,. -1 -1 -1 -1 -1 -1 ARID3A 50_intron 13,.,. 0.692308,.,. ARID3A/intron/ 0.9983 0.2671 0.4420 1 dominant HG002 HG002 chr19:949201:T:A 1,.,. -1 -1 -1 -1 -1 -1 ARID3A 50_intron 13,.,. 0.692308,.,. ARID3A/intron/ 0.9983 0.2671 0.4420 1 recessive HG002 HG002 chr19:991196:CGTCCCAG:C 2,.,. -1 -1 -1 -1 -1 -1 WDR18 50_intron 27,.,. 1,.,. WDR18/intron/;WDR18/non_coding/ 0.0000 0.9135 1.2220 6 recessive HG002 HG002 chr19:991204:G:C 2,.,. -1 -1 -1 -1 -1 -1 WDR18 50_intron 27,.,. 1,.,. WDR18/intron/;WDR18/non_coding/ 0.0000 0.9135 1.2220 6 dominant HG002 HG002 chr19:1097818:C:CA 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.526316,.,. dominant HG002 HG002 chr19:1459957:A:G 1,.,. -1 -1 -1 -1 -1 -1 APC2 50_intron 13,.,. 0.615385,.,. APC2/intron/;APC2/non_coding/ 0.0000 0.7430 0.9610 4 Cortical dysplasia, complex, with other brain malformations 10;Intellectual developmental disorder, autosomal recessive 74 0.000 dominant HG002 HG002 chr19:1533869:TGTGGGGGCGAGGG:T 1,.,. -1 -1 -1 -1 -1 -1 PLK5 50_intron 18,.,. 0.555556,.,. PLK5/intron/;PLK5/non_coding/ 0.0000 0.9418 1.2840 7 dominant HG002 HG002 chr19:1533884:T:G 1,.,. -1 -1 -1 -1 -1 -1 PLK5 50_intron 16,.,. 0.625,.,. PLK5/intron/;PLK5/non_coding/ 0.0000 0.9418 1.2840 7 dominant HG002 HG002 chr19:1537427:C:T 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.473684,.,. dominant HG002 HG002 chr19:1541245:G:GTTGTTC 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.473684,.,. dominant HG002 HG002 chr19:1569721:C:A 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.409091,.,. dominant HG002 HG002 chr19:1651402:C:G 1,.,. 2.62722e-05 0 4 -1 -1 -1 TCF3 50_intron 22,.,. 0.590909,.,. TCF3/intron/ 0.0000 0.9897 1.2390 7 Agammaglobulinemia 8b, autosomal recessive;Agammaglobulinemia 8, autosomal dominant 0.000 recessive HG002 HG002 chr19:1694203:T:G 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chr19:1729367:CGTGT:C 1,.,. 2.47402e-05 0 1 -1 -1 -1 19,.,. 0.578947,.,. dominant HG002 HG002 chr19:1939454:T:C 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.64,.,. recessive HG002 HG002 chr19:2033177:T:A 2,.,. 0.00200944 1 207 0.00105116 1 3 BTBD2 50_intron 25,.,. 1,.,. BTBD2/intron/ 0.2792 0.4125 0.6350 2 recessive HG002 HG002 chr19:2033180:T:A 2,.,. 0.000270699 0 28 -1 -1 -1 BTBD2 50_intron 25,.,. 1,.,. BTBD2/intron/ 0.2792 0.4125 0.6350 2 recessive HG002 HG002 chr19:2033183:T:A 2,.,. -1 -1 -1 -1 -1 -1 BTBD2 50_intron 25,.,. 1,.,. BTBD2/intron/ 0.2792 0.4125 0.6350 2 dominant HG002 HG002 chr19:2235777:C:A 1,.,. 2.62816e-05 0 4 -1 -1 -1 PLEKHJ1 14_missense 18,.,. 0.444444,.,. PLEKHJ1/missense/ENST00000586608;PLEKHJ1/missense/ENST00000587394;PLEKHJ1/missense/ENST00000587962;PLEKHJ1/missense/ENST00000591099;PLEKHJ1/missense/ENST00000326631;PLEKHJ1/missense/ENST00000589097 0.0000 1.1279 1.5930 8 dominant HG002 HG002 chr19:2347215:A:ACACACTCACGCACTCTTATTCGCCTGATTCCGTTCTCTCTCTC 1,.,. 2.74977e-05 0 3 0.000700771 0 2 SPPL2B 50_intron 20,.,. 0.35,.,. SPPL2B/intron/;SPPL2B/non_coding/ 0.0000 0.8514 1.1080 6 dominant HG002 HG002 chr19:2375086:C:T 1,.,. 1.31422e-05 0 2 -1 -1 -1 TMPRSS9 50_intron 8,.,. 0.5,.,. TMPRSS9/intron/ 0.0000 1.1338 1.3260 7 dominant HG002 HG002 chr19:2443218:T:C 1,.,. 6.58025e-06 0 1 -1 -1 -1 LMNB2 50_intron 14,.,. 0.428571,.,. LMNB2/intron/ 1.0000 0.2626 0.3990 0 Progressive myoclonic epilepsy type 9;Microcephaly 27, primary, autosomal dominant;Lipodystrophy, partial, acquired, susceptibility to 0.000 dominant HG002 HG002 chr19:2450107:C:CATATACAT 1,.,. -1 -1 -1 -1 -1 -1 LMNB2 50_intron 22,.,. 0.409091,.,. LMNB2/intron/ 1.0000 0.2626 0.3990 0 Progressive myoclonic epilepsy type 9;Microcephaly 27, primary, autosomal dominant;Lipodystrophy, partial, acquired, susceptibility to 0.000 dominant HG002 HG002 chr19:2752688:G:A 1,.,. 6.57004e-06 0 1 -1 -1 -1 19,.,. 0.210526,.,. dominant HG002 HG002 chr19:2755223:T:C 1,.,. 6.5722e-06 0 1 -1 -1 -1 SGTA 36_3_prime_utr 17,.,. 0.235294,.,. SGTA/3_prime_utr/ENST00000221566 0.0029 0.5144 0.7470 3 dominant HG002 HG002 chr19:2866175:A:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr19:2908900:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 ZNF57 50_intron 27,.,. 0.481481,.,. ZNF57/intron/ 0.0038 0.7129 1.2430 7 dominant HG002 HG002 chr19:2959417:A:AAGGG 1,.,. 1.31683e-05 0 1 -1 -1 -1 19,.,. 0.421053,.,. dominant HG002 HG002 chr19:3010368:A:G 1,.,. 3.19789e-05 0 3 -1 -1 -1 TLE2 50_intron 26,.,. 0.461538,.,. TLE2/intron/;TLE2/non_coding/ 0.0000 0.8403 1.0200 5 dominant HG002 HG002 chr19:3581610:T:A 1,.,. 9.1565e-06 0 1 -1 -1 -1 17,.,. 0.411765,.,. dominant HG002 HG002 chr19:3643511:C:T 1,.,. -1 -1 -1 -1 -1 -1 PIP5K1C 50_intron 13,.,. 0.461538,.,. PIP5K1C/intron/ 0.0000 0.5833 0.7520 3 Lethal congenital contracture syndrome 3 0.000 dominant HG002 HG002 chr19:3789786:C:G 1,.,. 9.86145e-05 0 4 -1 -1 -1 MATK 50_intron 20,.,. 0.6,.,. MATK/intron/;MATK/non_coding/ 0.0000 0.7102 0.9210 4 dominant HG002 HG002 chr19:3789787:T:C 1,.,. -1 -1 -1 -1 -1 -1 MATK 50_intron 20,.,. 0.6,.,. MATK/intron/;MATK/non_coding/ 0.0000 0.7102 0.9210 4 dominant HG002 HG002 chr19:3789788:G:T 1,.,. -1 -1 -1 -1 -1 -1 MATK 50_intron 20,.,. 0.6,.,. MATK/intron/;MATK/non_coding/ 0.0000 0.7102 0.9210 4 dominant HG002 HG002 chr19:4061136:C:G 1,.,. 2.62819e-05 0 4 -1 -1 -1 ZBTB7A 50_intron 18,.,. 0.611111,.,. ZBTB7A/intron/ 0.0881 0.4868 0.8780 4 Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 0.000 recessive HG002 HG002 chr19:4511404:T:G 2,.,. -1 -1 -1 -1 -1 -1 PLIN4 14_missense 19,.,. 1,.,. PLIN4/missense/ENST00000301286;PLIN4/missense/ENST00000633942 0.0000 1.1864 1.4910 8 Vacuolar Neuromyopathy recessive HG002 HG002 chr19:4511406:T:C 2,.,. -1 -1 -1 -1 -1 -1 PLIN4 14_missense 18,.,. 1,.,. PLIN4/missense/ENST00000301286;PLIN4/missense/ENST00000633942 0.0000 1.1864 1.4910 8 Vacuolar Neuromyopathy recessive HG002 HG002 chr19:4511409:G:C 2,.,. -1 -1 -1 -1 -1 -1 PLIN4 14_missense 19,.,. 1,.,. PLIN4/missense/ENST00000301286;PLIN4/missense/ENST00000633942 0.0000 1.1864 1.4910 8 Vacuolar Neuromyopathy recessive HG002 HG002 chr19:4511412:C:T 2,.,. -1 -1 -1 -1 -1 -1 PLIN4 14_missense 19,.,. 1,.,. PLIN4/missense/ENST00000301286;PLIN4/missense/ENST00000633942 0.0000 1.1864 1.4910 8 Vacuolar Neuromyopathy recessive HG002 HG002 chr19:4511416:T:C 2,.,. 7.78828e-06 0 1 -1 -1 -1 PLIN4 30_synonymous 18,.,. 1,.,. PLIN4/synonymous/ENST00000301286;PLIN4/synonymous/ENST00000633942 0.0000 1.1864 1.4910 8 Vacuolar Neuromyopathy recessive HG002 HG002 chr19:4511422:A:G 2,.,. -1 -1 -1 -1 -1 -1 PLIN4 30_synonymous 19,.,. 1,.,. PLIN4/synonymous/ENST00000301286;PLIN4/synonymous/ENST00000633942 0.0000 1.1864 1.4910 8 Vacuolar Neuromyopathy recessive HG002 HG002 chr19:4511424:C:T 2,.,. -1 -1 -1 -1 -1 -1 PLIN4 14_missense 19,.,. 1,.,. PLIN4/missense/ENST00000301286;PLIN4/missense/ENST00000633942 0.0000 1.1864 1.4910 8 Vacuolar Neuromyopathy recessive HG002 HG002 chr19:4511425:A:C 2,.,. -1 -1 -1 -1 -1 -1 PLIN4 30_synonymous 19,.,. 1,.,. PLIN4/synonymous/ENST00000301286;PLIN4/synonymous/ENST00000633942 0.0000 1.1864 1.4910 8 Vacuolar Neuromyopathy recessive HG002 HG002 chr19:4511428:C:T 2,.,. -1 -1 -1 -1 -1 -1 PLIN4 30_synonymous 19,.,. 1,.,. PLIN4/synonymous/ENST00000301286;PLIN4/synonymous/ENST00000633942 0.0000 1.1864 1.4910 8 Vacuolar Neuromyopathy recessive HG002 HG002 chr19:4511434:C:G 2,.,. -1 -1 -1 -1 -1 -1 PLIN4 30_synonymous 19,.,. 1,.,. PLIN4/synonymous/ENST00000301286;PLIN4/synonymous/ENST00000633942 0.0000 1.1864 1.4910 8 Vacuolar Neuromyopathy dominant HG002 HG002 chr19:4609107:AAT:A 1,.,. 9.16624e-06 0 1 -1 -1 -1 26,.,. 0.346154,.,. dominant HG002 HG002 chr19:5206262:T:A 1,.,. -1 -1 -1 -1 -1 -1 PTPRS 53_non_coding 36,.,. 0.277778,.,. PTPRS/non_coding/ 1.0000 0.3052 0.3780 0 dominant HG002 HG002 chr19:5206263:G:T 1,.,. -1 -1 -1 -1 -1 -1 PTPRS 53_non_coding 39,.,. 0.333333,.,. PTPRS/non_coding/ 1.0000 0.3052 0.3780 0 dominant HG002 HG002 chr19:5206265:A:G 1,.,. -1 -1 -1 -1 -1 -1 PTPRS 53_non_coding 35,.,. 0.371429,.,. PTPRS/non_coding/ 1.0000 0.3052 0.3780 0 dominant HG002 HG002 chr19:5423784:CCACT:C 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. dominant HG002 HG002 chr19:5423794:A:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr19:5823109:A:G 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.52381,.,. dominant HG002 HG002 chr19:6025374:C:T 1,.,. -1 -1 -1 -1 -1 -1 RFX2 50_intron 35,.,. 0.485714,.,. RFX2/intron/;RFX2/non_coding/ 1.0000 0.2486 0.3690 0 dominant HG002 HG002 chr19:6035848:G:GGTGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 RFX2 50_intron 32,.,. 0.5,.,. RFX2/intron/;RFX2/non_coding/ 1.0000 0.2486 0.3690 0 dominant HG002 HG002 chr19:6056223:G:A 1,.,. -1 -1 -1 -1 -1 -1 RFX2 50_intron 31,.,. 0.483871,.,. RFX2/intron/;RFX2/non_coding/ 1.0000 0.2486 0.3690 0 recessive HG002 HG002 chr19:6138652:A:G 2,.,. -1 -1 -1 -1 -1 -1 RFX2;ACSBG2 50_intron 28,.,. 1,.,. RFX2/intron/;ACSBG2/intron/ 1.0000;;0.0000 0.2486;;0.7954 0.3690;;0.9900 0;;5 dominant HG002 HG002 chr19:6298624:C:T 1,.,. 1.97135e-05 0 3 -1 -1 -1 16,.,. 0.3125,.,. dominant HG002 HG002 chr19:6347500:ACGAGC:A 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.47619,.,. dominant HG002 HG002 chr19:6347507:A:C 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.5,.,. dominant HG002 HG002 chr19:6355831:CATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCG:C 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.296296,.,. dominant HG002 HG002 chr19:6381460:TCGC:T 1,.,. -1 -1 -1 -1 -1 -1 GTF2F1 13_inframe_deletion 22,.,. 0.318182,.,. GTF2F1/inframe_deletion/ENST00000394456;GTF2F1/inframe_deletion/ENST00000593678;GTF2F1/inframe_deletion/ENST00000595047 0.0000 0.6096 0.8020 3 dominant HG002 HG002 chr19:6533709:C:T 1,.,. -1 -1 -1 -1 -1 -1 TNFSF9 50_intron 17,.,. 0.411765,.,. TNFSF9/intron/ 0.0000 1.2329 1.8440 9 dominant HG002 HG002 chr19:6689322:TACCTAC:T 1,.,. -1 -1 -1 -1 -1 -1 C3 50_intron 28,.,. 0.535714,.,. C3/intron/;C3/non_coding/ 0.0000 0.4567 0.5410 1 Atypical hemolytic-uremic syndrome with C3 anomaly;Age related macular degeneration 9;Complement component 3 deficiency 0.000 recessive HG002 HG002 chr19:6720064:C:T 2,.,. 0.000370221 0 11 -1 -1 -1 C3 50_intron 14,.,. 1,.,. C3/intron/;C3/non_coding/ 0.0000 0.4567 0.5410 1 Atypical hemolytic-uremic syndrome with C3 anomaly;Age related macular degeneration 9;Complement component 3 deficiency 0.000 recessive HG002 HG002 chr19:6720065:A:C 2,.,. -1 -1 -1 -1 -1 -1 C3 50_intron 14,.,. 1,.,. C3/intron/;C3/non_coding/ 0.0000 0.4567 0.5410 1 Atypical hemolytic-uremic syndrome with C3 anomaly;Age related macular degeneration 9;Complement component 3 deficiency 0.000 recessive HG002 HG002 chr19:6720066:C:A 2,.,. 0.00037117 0 11 -1 -1 -1 C3 50_intron 14,.,. 1,.,. C3/intron/;C3/non_coding/ 0.0000 0.4567 0.5410 1 Atypical hemolytic-uremic syndrome with C3 anomaly;Age related macular degeneration 9;Complement component 3 deficiency 0.000 dominant HG002 HG002 chr19:6758133:G:GTATTT 1,.,. 2.44958e-05 0 3 -1 -1 -1 SH2D3A 50_intron 22,.,. 0.363636,.,. SH2D3A/intron/;SH2D3A/non_coding/ 0.0000 1.0130 1.2880 7 dominant HG002 HG002 chr19:6938790:TTTC:T 1,.,. 7.17648e-06 0 1 -1 -1 -1 ADGRE1 50_intron 43,.,. 0.465116,.,. ADGRE1/intron/ 0.0000 0.7918 0.9510 4 dominant HG002 HG002 chr19:6938800:T:C 1,.,. -1 -1 -1 -1 -1 -1 ADGRE1 50_intron 45,.,. 0.511111,.,. ADGRE1/intron/ 0.0000 0.7918 0.9510 4 dominant HG002 HG002 chr19:6938801:C:T 1,.,. 1.45153e-05 0 2 -1 -1 -1 ADGRE1 50_intron 42,.,. 0.571429,.,. ADGRE1/intron/ 0.0000 0.7918 0.9510 4 dominant HG002 HG002 chr19:6994353:AAATAATAATAAT:A 1,.,. -1 -1 -1 -1 -1 -1 ADGRE4P 53_non_coding 21,.,. 0.666667,.,. ADGRE4P/non_coding/ dominant HG002 HG002 chr19:7062339:TTATAA:T 1,.,. 6.65513e-05 0 1 -1 -1 -1 30,.,. 0.466667,.,. recessive HG002 HG002 chr19:7322369:A:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr19:7322382:C:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr19:7516627:T:C 1,.,. 2.63317e-05 0 4 -1 -1 -1 AC008878.1 50_intron 27,.,. 0.407407,.,. AC008878.1/non_coding/;AC008878.1/intron/ dominant HG002 HG002 chr19:7548716:TATAC:T 1,.,. -1 -1 -1 -1 -1 -1 PNPLA6 50_intron 29,.,. 0.344828,.,. PNPLA6/intron/;PNPLA6/non_coding/ 0.0000 0.7380 0.8720 4 Hereditary spastic paraplegia 39;Laurence-Moon syndrome;Ataxia-hypogonadism-choroidal dystrophy syndrome;Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 0.000 dominant HG002 HG002 chr19:7548728:T:C 1,.,. 0.000141643 0 2 0.000700771 0 2 PNPLA6 50_intron 28,.,. 0.357143,.,. PNPLA6/intron/;PNPLA6/non_coding/ 0.0000 0.7380 0.8720 4 Hereditary spastic paraplegia 39;Laurence-Moon syndrome;Ataxia-hypogonadism-choroidal dystrophy syndrome;Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 0.000 dominant HG002 HG002 chr19:7785701:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr19:7785704:T:A 1,.,. 6.01576e-05 0 2 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr19:7791044:T:TTATG 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.575758,.,. dominant HG002 HG002 chr19:7806097:A:C 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.6,.,. dominant HG002 HG002 chr19:7806115:A:C 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.4,.,. dominant HG002 HG002 chr19:7806116:C:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.384615,.,. dominant HG002 HG002 chr19:7823503:G:A 1,.,. 0.000576701 0 1 -1 -1 -1 17,.,. 0.411765,.,. dominant HG002 HG002 chr19:7913048:C:T 1,.,. 1.14563e-05 0 1 -1 -1 -1 MAP2K7 36_3_prime_utr 24,.,. 0.458333,.,. MAP2K7/3_prime_utr/ENST00000397981;MAP2K7/3_prime_utr/ENST00000397979;MAP2K7/3_prime_utr/ENST00000397983 0.9975 0.2799 0.4540 1 recessive HG002 HG002 chr19:8063857:G:C 2,.,. 0.000806595 1 100 0.000700771 0 2 26,.,. 1,.,. dominant HG002 HG002 chr19:8090484:G:T 1,.,. 2.12567e-05 0 2 -1 -1 -1 FBN3 50_intron 25,.,. 0.36,.,. FBN3/intron/ 0.0000 0.7567 0.8440 3 dominant HG002 HG002 chr19:8090485:T:G 1,.,. 3.24286e-05 0 2 -1 -1 -1 FBN3 50_intron 27,.,. 0.333333,.,. FBN3/intron/ 0.0000 0.7567 0.8440 3 recessive HG002 HG002 chr19:8336585:TACACATATAC:T 2,.,. -1 -1 -1 -1 -1 -1 KANK3 50_intron 23,.,. 1,.,. KANK3/intron/ 0.0000 1.3477 1.6730 8 recessive HG002 HG002 chr19:8336601:T:C 2,.,. 0.000445153 0 19 0.000700771 0 2 KANK3 50_intron 23,.,. 1,.,. KANK3/intron/ 0.0000 1.3477 1.6730 8 dominant HG002 HG002 chr19:8633923:C:T 1,.,. -1 -1 -1 -1 -1 -1 NFILZ 50_intron 30,.,. 0.433333,.,. NFILZ/intron/;NFILZ/non_coding/ dominant HG002 HG002 chr19:8790486:C:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr19:8844217:CACA:C 1,.,. 4.61056e-05 0 3 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr19:8844224:C:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr19:8895832:ACAT:A 1,.,. 0.000286656 0 4 -1 -1 -1 MUC16 50_intron 36,.,. 0.444444,.,. MUC16/intron/ 0.0000 0.7366 0.7870 3 dominant HG002 HG002 chr19:8941296:AGAAC:A 1,.,. -1 -1 -1 -1 -1 -1 MUC16 50_intron 38,.,. 0.684211,.,. MUC16/intron/ 0.0000 0.7366 0.7870 3 dominant HG002 HG002 chr19:8941301:T:A 1,.,. -1 -1 -1 -1 -1 -1 MUC16 50_intron 38,.,. 0.684211,.,. MUC16/intron/ 0.0000 0.7366 0.7870 3 dominant HG002 HG002 chr19:8942980:A:ATTAT 1,.,. -1 -1 -1 -1 -1 -1 MUC16 50_intron 32,.,. 0.625,.,. MUC16/intron/ 0.0000 0.7366 0.7870 3 dominant HG002 HG002 chr19:8998312:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.45,.,. dominant HG002 HG002 chr19:9045039:G:A 1,.,. 1.31643e-05 0 2 -1 -1 -1 26,.,. 0.538462,.,. dominant HG002 HG002 chr19:9048685:G:A 1,.,. 1.99053e-05 0 3 -1 -1 -1 23,.,. 0.521739,.,. dominant HG002 HG002 chr19:9160998:C:T 1,.,. 6.5722e-06 0 1 0.000700771 0 2 ZNF317 30_synonymous 45,.,. 0.444444,.,. ZNF317/synonymous/ENST00000360385;ZNF317/synonymous/ENST00000247956;ZNF317/3_prime_utr&NMD_transcript/ENST00000591278 0.0020 0.6181 0.9830 4 recessive HG002 HG002 chr19:9408967:CAGAATTTGAACATGAACATGAACATGTTCCTTGAACATGTTCCTTGATCATG:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr19:9409020:A:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr19:9409022:CATG:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr19:9430370:A:ACTCAC 2,.,. -1 -1 -1 -1 -1 -1 ZNF266 50_intron 32,.,. 1,.,. ZNF266/intron/ 0.0001 0.9070 1.4650 8 recessive HG002 HG002 chr19:9430372:C:T 2,.,. -1 -1 -1 -1 -1 -1 ZNF266 50_intron 32,.,. 1,.,. ZNF266/intron/ 0.0001 0.9070 1.4650 8 dominant HG002 HG002 chr19:9549098:AG:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.536585,.,. dominant HG002 HG002 chr19:9708826:A:T 1,.,. 6.57056e-06 0 1 -1 -1 -1 40,.,. 0.35,.,. dominant HG002 HG002 chr19:9927996:A:G 1,.,. -1 -1 -1 -1 -1 -1 OLFM2 50_intron 27,.,. 0.407407,.,. OLFM2/intron/;OLFM2/non_coding/ 0.0040 0.5063 0.7360 2 dominant HG002 HG002 chr19:10521328:TAC:T 1,.,. 7.1959e-06 0 1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr19:10867257:T:TTGATGTCCTCTGATGAC 1,.,. -1 -1 -1 -1 -1 -1 C19orf38 50_intron 20,.,. 0.5,.,. C19orf38/intron/ 0.0262 0.4900 0.7660 3 dominant HG002 HG002 chr19:10867259:C:G 1,.,. -1 -1 -1 -1 -1 -1 C19orf38 50_intron 20,.,. 0.5,.,. C19orf38/intron/ 0.0262 0.4900 0.7660 3 dominant HG002 HG002 chr19:10946077:G:C 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.586207,.,. dominant HG002 HG002 chr19:11164730:C:A 1,.,. -1 -1 -1 -1 -1 -1 KANK2 36_3_prime_utr 22,.,. 0.454545,.,. KANK2/3_prime_utr/ENST00000586659;KANK2/3_prime_utr/ENST00000588787 0.0000 0.5406 0.7040 2 Nephrotic syndrome 16;Wooly hair-palmoplantar keratoderma syndrome 0.000 dominant HG002 HG002 chr19:11195119:G:C 1,.,. -1 -1 -1 -1 -1 -1 KANK2 35_5_prime_utr 23,.,. 0.565217,.,. KANK2/5_prime_utr/ENST00000590685 0.0000 0.5406 0.7040 2 Nephrotic syndrome 16;Wooly hair-palmoplantar keratoderma syndrome 0.000 recessive HG002 HG002 chr19:11209759:C:T 2,.,. -1 -1 -1 0.000700771 0 2 DOCK6 50_intron 20,.,. 1,.,. DOCK6/intron/ 0.0000 0.7630 0.8700 4 Adams-Oliver syndrome 2 0.000 recessive HG002 HG002 chr19:11209763:C:T 2,.,. -1 -1 -1 -1 -1 -1 DOCK6 50_intron 20,.,. 1,.,. DOCK6/intron/ 0.0000 0.7630 0.8700 4 Adams-Oliver syndrome 2 0.000 recessive HG002 HG002 chr19:11209766:A:ACTTGTCTATCCCCTCAC 2,.,. -1 -1 -1 -1 -1 -1 DOCK6 50_intron 20,.,. 1,.,. DOCK6/intron/ 0.0000 0.7630 0.8700 4 Adams-Oliver syndrome 2 0.000 dominant HG002 HG002 chr19:11727947:T:TCGCGATCTCGG 1,.,. -1 -1 -1 -1 -1 -1 ZNF823 50_intron 37,.,. 0.621622,.,. ZNF823/intron/ 0.3984 0.3815 0.8730 4 dominant HG002 HG002 chr19:12385648:TATATACAC:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.592593,.,. recessive HG002 HG002 chr19:12410174:TATAC:T 2,.,. 0.00215148 3 148 0.00105116 0 3 AC008758.5 50_intron 47,.,. 1,.,. AC008758.5/intron/ recessive HG002 HG002 chr19:12410180:T:C 2,.,. -1 -1 -1 -1 -1 -1 AC008758.5 50_intron 47,.,. 1,.,. AC008758.5/intron/ dominant HG002 HG002 chr19:12853164:T:TAGC 1,.,. -1 -1 -1 -1 -1 -1 HOOK2;MAST1 50_intron 34,.,. 0.411765,.,. HOOK2/non_coding/;MAST1/intron/;MAST1/non_coding/ 0.0000;;1.0000 0.9889;;0.2862 1.1600;;0.3790 6;;0 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0.000 dominant HG002 HG002 chr19:12853165:T:C 1,.,. 1.99495e-05 0 3 -1 -1 -1 HOOK2;MAST1 50_intron 34,.,. 0.411765,.,. HOOK2/non_coding/;MAST1/intron/;MAST1/non_coding/ 0.0000;;1.0000 0.9889;;0.2862 1.1600;;0.3790 6;;0 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0.000 dominant HG002 HG002 chr19:12853167:C:G 1,.,. -1 -1 -1 -1 -1 -1 HOOK2;MAST1 50_intron 34,.,. 0.411765,.,. HOOK2/non_coding/;MAST1/intron/;MAST1/non_coding/ 0.0000;;1.0000 0.9889;;0.2862 1.1600;;0.3790 6;;0 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0.000 dominant HG002 HG002 chr19:12853168:T:A 1,.,. -1 -1 -1 -1 -1 -1 HOOK2;MAST1 50_intron 34,.,. 0.411765,.,. HOOK2/non_coding/;MAST1/intron/;MAST1/non_coding/ 0.0000;;1.0000 0.9889;;0.2862 1.1600;;0.3790 6;;0 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0.000 dominant HG002 HG002 chr19:13231063:G:A 1,.,. -1 -1 -1 -1 -1 -1 CACNA1A 50_intron 25,.,. 0.52,.,. CACNA1A/intron/;CACNA1A/non_coding/ 1.0000 0.2597 0.3310 0 Spinocerebellar ataxia type 6;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42 0.000 dominant HG002 HG002 chr19:13239106:TCGCGCCTCCCC:T 1,.,. -1 -1 -1 -1 -1 -1 CACNA1A 50_intron 31,.,. 0.387097,.,. CACNA1A/intron/;CACNA1A/non_coding/ 1.0000 0.2597 0.3310 0 Spinocerebellar ataxia type 6;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42 0.000 dominant HG002 HG002 chr19:13239118:T:G 1,.,. -1 -1 -1 -1 -1 -1 CACNA1A 50_intron 31,.,. 0.387097,.,. CACNA1A/intron/;CACNA1A/non_coding/ 1.0000 0.2597 0.3310 0 Spinocerebellar ataxia type 6;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42 0.000 recessive HG002 HG002 chr19:13393685:CCTTT:C 2,.,. -1 -1 -1 -1 -1 -1 CACNA1A 50_intron 27,.,. 1,.,. CACNA1A/intron/;CACNA1A/non_coding/ 1.0000 0.2597 0.3310 0 Spinocerebellar ataxia type 6;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42 0.000 recessive HG002 HG002 chr19:13393691:C:T 2,.,. -1 -1 -1 -1 -1 -1 CACNA1A 50_intron 27,.,. 1,.,. CACNA1A/intron/;CACNA1A/non_coding/ 1.0000 0.2597 0.3310 0 Spinocerebellar ataxia type 6;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42 0.000 dominant HG002 HG002 chr19:13508647:A:AGGAGTC 1,.,. -1 -1 -1 -1 -1 -1 CACNA1A 50_intron 25,.,. 0.52,.,. CACNA1A/intron/ 1.0000 0.2597 0.3310 0 Spinocerebellar ataxia type 6;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42 0.000 dominant HG002 HG002 chr19:13508651:T:G 1,.,. 1.32052e-05 1 2 -1 -1 -1 CACNA1A 50_intron 25,.,. 0.52,.,. CACNA1A/intron/ 1.0000 0.2597 0.3310 0 Spinocerebellar ataxia type 6;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42 0.000 dominant HG002 HG002 chr19:13595193:A:G 1,.,. -1 -1 -1 0.000700771 0 2 CACNA1A 50_intron 30,.,. 0.433333,.,. CACNA1A/intron/ 1.0000 0.2597 0.3310 0 Spinocerebellar ataxia type 6;Episodic ataxia type 2;Developmental and epileptic encephalopathy, 42 0.000 dominant HG002 HG002 chr19:13825051:T:C 1,.,. -1 -1 -1 -1 -1 -1 ZSWIM4 50_intron 23,.,. 0.478261,.,. ZSWIM4/intron/ 0.0000 0.6703 0.8300 3 dominant HG002 HG002 chr19:14107728:G:GAGGTAT 1,.,. -1 -1 -1 -1 -1 -1 PRKACA 50_intron 24,.,. 0.333333,.,. PRKACA/intron/;PRKACA/non_coding/ 1.0000 0.1938 0.3380 0 Cardioacrofacial dysplasia 1;Pigmented nodular adrenocortical disease, primary, 4 0.000 dominant HG002 HG002 chr19:14107729:G:T 1,.,. -1 -1 -1 -1 -1 -1 PRKACA 50_intron 24,.,. 0.333333,.,. PRKACA/intron/;PRKACA/non_coding/ 1.0000 0.1938 0.3380 0 Cardioacrofacial dysplasia 1;Pigmented nodular adrenocortical disease, primary, 4 0.000 dominant HG002 HG002 chr19:14289117:GGTGAGGGATGCTGGGCTGGACCAA:G 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.52,.,. dominant HG002 HG002 chr19:14322750:TTCTTTCTTTCTC:T 1,.,. 3.40205e-05 0 1 -1 -1 -1 17,.,. 0.294118,.,. dominant HG002 HG002 chr19:14636008:T:TCTTC 1,.,. -1 -1 -1 -1 -1 -1 ADGRE3 50_intron 30,.,. 0.3,.,. ADGRE3/intron/ 0.0000 1.0335 1.2650 7 dominant HG002 HG002 chr19:14650657:C:T 1,.,. -1 -1 -1 0.000700771 0 2 ADGRE3 50_intron 29,.,. 0.413793,.,. ADGRE3/intron/ 0.0000 1.0335 1.2650 7 dominant HG002 HG002 chr19:14749688:G:A 1,.,. -1 -1 -1 0.00140154 0 4 ADGRE2 50_intron 44,.,. 0.477273,.,. ADGRE2/intron/;ADGRE2/non_coding/ 0.0000 0.8522 1.0280 5 Vibratory urticaria 0.000 dominant HG002 HG002 chr19:14749932:AATT:A 1,.,. -1 -1 -1 0.000700771 0 2 ADGRE2 50_intron 46,.,. 0.456522,.,. ADGRE2/intron/;ADGRE2/non_coding/ 0.0000 0.8522 1.0280 5 Vibratory urticaria 0.000 dominant HG002 HG002 chr19:14915574:ATATATTT:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr19:14989764:T:G 1,.,. 5.54262e-05 0 1 -1 -1 -1 SLC1A6 50_intron 32,.,. 0.375,.,. SLC1A6/intron/ 0.7178 0.3738 0.5760 1 dominant HG002 HG002 chr19:14990794:A:C 1,.,. 2.63932e-05 0 4 -1 -1 -1 SLC1A6 50_intron 36,.,. 0.388889,.,. SLC1A6/intron/ 0.7178 0.3738 0.5760 1 dominant HG002 HG002 chr19:14997999:A:ATGTGTG 1,.,. -1 -1 -1 -1 -1 -1 SLC1A6 50_intron 45,.,. 0.377778,.,. SLC1A6/intron/ 0.7178 0.3738 0.5760 1 dominant HG002 HG002 chr19:15003674:A:AAAAAG 1,.,. -1 -1 -1 -1 -1 -1 SLC1A6 50_intron 35,.,. 0.428571,.,. SLC1A6/intron/ 0.7178 0.3738 0.5760 1 dominant HG002 HG002 chr19:15039075:T:A 1,.,. 2.72859e-05 0 4 0.00140154 0 4 21,.,. 0.428571,.,. dominant HG002 HG002 chr19:15060403:TCC:T 1,.,. 1.99317e-05 0 3 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr19:15099170:GAAGGGAAGGGAAAGGGA:G 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.6,.,. dominant HG002 HG002 chr19:15142962:G:GGCT 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr19:15142966:C:G 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr19:15213342:A:C 1,.,. -1 -1 -1 -1 -1 -1 13,.,. 0.307692,.,. dominant HG002 HG002 chr19:15524235:A:G 1,.,. 2.62829e-05 0 4 -1 -1 -1 CYP4F22 50_intron 34,.,. 0.352941,.,. CYP4F22/intron/ 0.0000 0.5820 0.7660 3 Autosomal recessive congenital ichthyosis 5 0.000 dominant HG002 HG002 chr19:15619258:C:T 1,.,. 1.97132e-05 0 3 -1 -1 -1 CYP4F8 50_intron 31,.,. 0.612903,.,. CYP4F8/intron/;CYP4F8/non_coding/ 0.0000 0.9903 1.2320 6 dominant HG002 HG002 chr19:15630048:G:C 1,.,. -1 -1 -1 -1 -1 -1 CYP4F8 36_3_prime_utr 29,.,. 0.482759,.,. CYP4F8/3_prime_utr/ENST00000612078 0.0000 0.9903 1.2320 6 dominant HG002 HG002 chr19:15630049:T:G 1,.,. -1 -1 -1 -1 -1 -1 CYP4F8 36_3_prime_utr 29,.,. 0.482759,.,. CYP4F8/3_prime_utr/ENST00000612078 0.0000 0.9903 1.2320 6 dominant HG002 HG002 chr19:15693664:T:C 1,.,. -1 -1 -1 -1 -1 -1 CYP4F12 50_intron 32,.,. 0.53125,.,. CYP4F12/non_coding/;CYP4F12/intron/ 0.0000 1.0545 1.3050 7 dominant HG002 HG002 chr19:15695794:C:T 1,.,. 1.97236e-05 0 3 -1 -1 -1 CYP4F12 50_intron 31,.,. 0.516129,.,. CYP4F12/non_coding/;CYP4F12/intron/ 0.0000 1.0545 1.3050 7 dominant HG002 HG002 chr19:15866783:T:G 1,.,. 6.59057e-06 0 1 -1 -1 -1 25,.,. 0.4,.,. dominant HG002 HG002 chr19:15991677:A:G 1,.,. 1.31363e-05 0 2 -1 -1 -1 CYP4F9P 53_non_coding 44,.,. 0.454545,.,. CYP4F9P/non_coding/ dominant HG002 HG002 chr19:16057791:A:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.387097,.,. dominant HG002 HG002 chr19:16083648:G:GTGATCACACAAGGTGATTGCCT 1,.,. -1 -1 -1 -1 -1 -1 TPM4 50_intron 26,.,. 0.576923,.,. TPM4/intron/;TPM4/non_coding/ 0.0055 0.5274 0.8010 3 Bleeding disorder, platelet-type, 25 dominant HG002 HG002 chr19:16083653:G:T 1,.,. -1 -1 -1 -1 -1 -1 TPM4 50_intron 26,.,. 0.576923,.,. TPM4/intron/;TPM4/non_coding/ 0.0055 0.5274 0.8010 3 Bleeding disorder, platelet-type, 25 dominant HG002 HG002 chr19:16083655:C:G 1,.,. -1 -1 -1 -1 -1 -1 TPM4 50_intron 26,.,. 0.576923,.,. TPM4/intron/;TPM4/non_coding/ 0.0055 0.5274 0.8010 3 Bleeding disorder, platelet-type, 25 dominant HG002 HG002 chr19:16083656:C:CAATG 1,.,. -1 -1 -1 -1 -1 -1 TPM4 50_intron 26,.,. 0.576923,.,. TPM4/intron/;TPM4/non_coding/ 0.0055 0.5274 0.8010 3 Bleeding disorder, platelet-type, 25 dominant HG002 HG002 chr19:16428550:AAGAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 EPS15L1 50_intron 22,.,. 0.272727,.,. EPS15L1/intron/ 0.9995 0.3468 0.4530 1 0.000 dominant HG002 HG002 chr19:16483613:G:GTGCCTGTA 1,.,. 9.49091e-06 0 1 -1 -1 -1 CALR3;AC008764.1 50_intron 47,.,. 0.425532,.,. CALR3/intron/;AC008764.1/intron/;CALR3/non_coding/ 0.0000 0.7752 1.0280 5 dominant HG002 HG002 chr19:16483615:G:T 1,.,. -1 -1 -1 -1 -1 -1 CALR3;AC008764.1 50_intron 47,.,. 0.425532,.,. CALR3/intron/;AC008764.1/intron/;CALR3/non_coding/ 0.0000 0.7752 1.0280 5 dominant HG002 HG002 chr19:16483616:G:C 1,.,. 6.57869e-06 0 1 -1 -1 -1 CALR3;AC008764.1 50_intron 48,.,. 0.416667,.,. CALR3/intron/;AC008764.1/intron/;CALR3/non_coding/ 0.0000 0.7752 1.0280 5 dominant HG002 HG002 chr19:16806037:TA:T 1,.,. -1 -1 -1 -1 -1 -1 NWD1 50_intron 35,.,. 0.685714,.,. NWD1/intron/;NWD1/non_coding/ 0.0000 0.9117 1.0640 5 dominant HG002 HG002 chr19:17013889:T:C 1,.,. -1 -1 -1 -1 -1 -1 CPAMD8 50_intron 23,.,. 0.434783,.,. CPAMD8/intron/ 0.0000 0.7122 0.8250 3 Anterior segment dysgenesis 8 0.000 dominant HG002 HG002 chr19:17018918:A:AAAAG 1,.,. -1 -1 -1 -1 -1 -1 CPAMD8 50_intron 20,.,. 0.35,.,. CPAMD8/intron/ 0.0000 0.7122 0.8250 3 Anterior segment dysgenesis 8 0.000 dominant HG002 HG002 chr19:17079793:TG:T 1,.,. -1 -1 -1 -1 -1 -1 MYO9B 50_intron 18,.,. 0.611111,.,. MYO9B/intron/ 1.0000 0.3521 0.4300 1 dominant HG002 HG002 chr19:17240583:G:A 1,.,. 7.39919e-06 0 1 -1 -1 -1 NR2F6 50_intron 26,.,. 0.269231,.,. NR2F6/intron/ 0.0000 0.8644 1.2560 7 recessive HG002 HG002 chr19:17590475:G:A 2,.,. -1 -1 -1 0.00420463 1 12 29,.,. 1,.,. recessive HG002 HG002 chr19:17666197:C:CTCTCTCTCTCTTTCTT 2,.,. -1 -1 -1 -1 -1 -1 UNC13A 50_intron 25,.,. 1,.,. UNC13A/intron/ 1.0000 0.3144 0.3890 0 0.000 dominant HG002 HG002 chr19:18057241:T:A 1,.,. 2.65562e-05 0 2 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr19:18345334:A:C 1,.,. 2.62975e-05 0 4 -1 -1 -1 PGPEP1 50_intron 21,.,. 0.571429,.,. PGPEP1/intron/ 0.0000 0.8238 1.2510 7 dominant HG002 HG002 chr19:18616384:T:TTTGTTGTTG 1,.,. -1 -1 -1 -1 -1 -1 TMEM59L 50_intron 23,.,. 0.478261,.,. TMEM59L/intron/;TMEM59L/non_coding/ 0.0000 0.8710 1.1650 6 recessive HG002 HG002 chr19:19158373:A:C 2,.,. 0.0070922 0 2 -1 -1 -1 MEF2B;BORCS8-MEF2B 50_intron 28,.,. 1,.,. MEF2B/intron/;BORCS8-MEF2B/intron/;BORCS8-MEF2B/non_coding/ 0.0211;;0.0140 0.4977;;0.5041 0.7780;;0.7760 3;;3 recessive HG002 HG002 chr19:19158374:T:A 2,.,. 6.85025e-06 0 1 -1 -1 -1 MEF2B;BORCS8-MEF2B 50_intron 28,.,. 1,.,. MEF2B/intron/;BORCS8-MEF2B/intron/;BORCS8-MEF2B/non_coding/ 0.0211;;0.0140 0.4977;;0.5041 0.7780;;0.7760 3;;3 recessive HG002 HG002 chr19:19158375:G:T 2,.,. 0.0104167 0 1 -1 -1 -1 MEF2B;BORCS8-MEF2B 50_intron 28,.,. 1,.,. MEF2B/intron/;BORCS8-MEF2B/intron/;BORCS8-MEF2B/non_coding/ 0.0211;;0.0140 0.4977;;0.5041 0.7780;;0.7760 3;;3 dominant HG002 HG002 chr19:19470154:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 GATAD2A 50_intron 32,.,. 0.3125,.,. GATAD2A/intron/ 1.0000 0.1820 0.2950 0 dominant HG002 HG002 chr19:19759690:T:TTCCCTCCC 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.384615,.,. dominant HG002 HG002 chr19:19879510:T:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF253 50_intron 33,.,. 0.636364,.,. ZNF253/intron/ 0.1174 0.5105 1.0730 5 dominant HG002 HG002 chr19:19962800:G:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF93 53_non_coding 28,.,. 0.535714,.,. ZNF93/non_coding/ 0.0000 0.6741 0.9100 4 dominant HG002 HG002 chr19:19972375:T:C 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr19:20117397:C:CTCCTTCCTTCCTTCCT 1,.,. -1 -1 -1 -1 -1 -1 ZNF90 50_intron 24,.,. 0.416667,.,. ZNF90/non_coding/;ZNF90/intron/ 0.0063 0.7148 1.2880 7 dominant HG002 HG002 chr19:20148944:G:C 1,.,. -1 -1 -1 -1 -1 -1 AC011447.2 53_non_coding 20,.,. 0.45,.,. AC011447.2/non_coding/ dominant HG002 HG002 chr19:20158073:T:C 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.541667,.,. dominant HG002 HG002 chr19:20572238:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.485714,.,. dominant HG002 HG002 chr19:20572621:TTTGCC:T 1,.,. 0.000100873 0 4 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr19:20572627:T:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. recessive HG002 HG002 chr19:20618766:T:TCTTC 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr19:20618770:T:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr19:20619043:AGAAT:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr19:20619056:T:TTAAGG 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr19:20640228:AATAATTAAATTATTAAT:A 1,.,. 2.07797e-05 0 1 -1 -1 -1 ZNF626 50_intron 37,.,. 0.459459,.,. ZNF626/intron/ 0.6014 0.3306 0.7560 3 dominant HG002 HG002 chr19:20640248:T:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF626 50_intron 38,.,. 0.447368,.,. ZNF626/intron/ 0.6014 0.3306 0.7560 3 dominant HG002 HG002 chr19:20640252:T:A 1,.,. 2.08229e-05 0 1 -1 -1 -1 ZNF626 50_intron 38,.,. 0.447368,.,. ZNF626/intron/ 0.6014 0.3306 0.7560 3 dominant HG002 HG002 chr19:20648380:C:T 1,.,. -1 -1 -1 -1 -1 -1 ZNF626 50_intron 31,.,. 0.483871,.,. ZNF626/intron/ 0.6014 0.3306 0.7560 3 recessive HG002 HG002 chr19:21019967:A:T 2,.,. 3.51964e-05 0 3 0.0185704 2 53 29,.,. 1,.,. dominant HG002 HG002 chr19:21577283:A:G 1,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.339286,.,. dominant HG002 HG002 chr19:21653193:C:CCTT 1,.,. -1 -1 -1 -1 -1 -1 AC123912.3 53_non_coding 51,.,. 0.529412,.,. AC123912.3/non_coding/ dominant HG002 HG002 chr19:21929322:GGGTC:G 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.44,.,. dominant HG002 HG002 chr19:21929327:A:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.44,.,. dominant HG002 HG002 chr19:21958742:T:TGTTTTC 1,.,. -1 -1 -1 -1 -1 -1 ZNF208 50_intron 45,.,. 0.466667,.,. ZNF208/intron/ 0.0014 0.7601 1.2890 7 dominant HG002 HG002 chr19:21958743:A:T 1,.,. -1 -1 -1 -1 -1 -1 ZNF208 50_intron 45,.,. 0.466667,.,. ZNF208/intron/ 0.0014 0.7601 1.2890 7 dominant HG002 HG002 chr19:21958744:G:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF208 50_intron 45,.,. 0.466667,.,. ZNF208/intron/ 0.0014 0.7601 1.2890 7 dominant HG002 HG002 chr19:21958745:A:C 1,.,. -1 -1 -1 -1 -1 -1 ZNF208 50_intron 45,.,. 0.466667,.,. ZNF208/intron/ 0.0014 0.7601 1.2890 7 dominant HG002 HG002 chr19:22108172:T:C 1,.,. -1 -1 -1 0.00105116 0 3 44,.,. 0.568182,.,. dominant HG002 HG002 chr19:22207352:GA:G 1,.,. -1 -1 -1 -1 -1 -1 ZNF676 50_intron 42,.,. 0.666667,.,. ZNF676/intron/ 0.0113 0.9477 1.7700 8 dominant HG002 HG002 chr19:22424621:C:CCTGG 1,.,. 1.59408e-05 0 1 -1 -1 -1 ZNF98 50_intron 29,.,. 0.344828,.,. ZNF98/intron/ 0.0012 0.8520 1.4770 8 dominant HG002 HG002 chr19:22424622:T:G 1,.,. -1 -1 -1 -1 -1 -1 ZNF98 50_intron 28,.,. 0.392857,.,. ZNF98/intron/ 0.0012 0.8520 1.4770 8 dominant HG002 HG002 chr19:23415309:GGT:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr19:23415312:G:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.575,.,. recessive HG002 HG002 chr19:23656044:G:GAGCCAAAATT 2,.,. -1 -1 -1 -1 -1 -1 ZNF675 50_intron 42,.,. 1,.,. ZNF675/intron/;ZNF675/non_coding/ 0.0000 0.6428 0.8520 3 recessive HG002 HG002 chr19:23656045:G:A 2,.,. -1 -1 -1 -1 -1 -1 ZNF675 50_intron 43,.,. 1,.,. ZNF675/intron/;ZNF675/non_coding/ 0.0000 0.6428 0.8520 3 recessive HG002 HG002 chr19:23656046:A:T 2,.,. -1 -1 -1 -1 -1 -1 ZNF675 50_intron 43,.,. 1,.,. ZNF675/intron/;ZNF675/non_coding/ 0.0000 0.6428 0.8520 3 recessive HG002 HG002 chr19:23656742:A:AATG 2,.,. -1 -1 -1 -1 -1 -1 ZNF675 36_3_prime_utr 44,.,. 1,.,. ZNF675/3_prime_utr&NMD_transcript/ENST00000597074 0.0000 0.6428 0.8520 3 recessive HG002 HG002 chr19:23656746:G:T 2,.,. 2.62857e-05 0 4 -1 -1 -1 ZNF675 36_3_prime_utr 44,.,. 1,.,. ZNF675/3_prime_utr&NMD_transcript/ENST00000597074 0.0000 0.6428 0.8520 3 recessive HG002 HG002 chr19:23713237:TATGAA:T 2,.,. 0.0019305 0 1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr19:23713249:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr19:23810454:T:C 2,.,. -1 -1 -1 -1 -1 -1 AC139769.1 53_non_coding 38,.,. 1,.,. AC139769.1/non_coding/ dominant HG002 HG002 chr19:27511793:G:A 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.510638,.,. dominant HG002 HG002 chr19:27743641:C:T 1,.,. 0.000249377 0 1 -1 -1 -1 30,.,. 0.566667,.,. dominant HG002 HG002 chr19:27946560:T:C 1,.,. 1.97158e-05 0 3 -1 -1 -1 AC005357.2 53_non_coding 47,.,. 0.638298,.,. AC005357.2/non_coding/ dominant HG002 HG002 chr19:28776555:A:AAAAAC 1,.,. 1.94662e-05 0 2 0.00105116 0 3 50,.,. 0.24,.,. dominant HG002 HG002 chr19:28848211:CTGTTGCTGT:C 1,.,. 6.1106e-05 0 2 -1 -1 -1 36,.,. 0.388889,.,. dominant HG002 HG002 chr19:28848233:T:G 1,.,. 6.14439e-05 0 2 -1 -1 -1 36,.,. 0.416667,.,. dominant HG002 HG002 chr19:28908624:A:G 1,.,. 1.31434e-05 0 2 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr19:28952066:A:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.375,.,. recessive HG002 HG002 chr19:29593924:G:A 2,.,. 0.00254274 2 387 0.00280308 0 8 36,.,. 1,.,. recessive HG002 HG002 chr19:29904925:T:C 2,.,. 0.00610203 0 50 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chr19:30031665:A:G 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.531915,.,. dominant HG002 HG002 chr19:30247646:C:T 1,.,. 6.57869e-06 0 1 -1 -1 -1 ZNF536 50_intron 35,.,. 0.4,.,. ZNF536/non_coding/;ZNF536/intron/ 1.0000 0.1544 0.2450 0 dominant HG002 HG002 chr19:30279439:C:T 1,.,. 6.57099e-06 0 1 -1 -1 -1 ZNF536 50_intron 35,.,. 0.571429,.,. ZNF536/non_coding/;ZNF536/intron/ 1.0000 0.1544 0.2450 0 dominant HG002 HG002 chr19:30402794:A:AATATATATATATATAT 1,.,. -1 -1 -1 -1 -1 -1 ZNF536 50_intron 32,.,. 0.3125,.,. ZNF536/intron/ 1.0000 0.1544 0.2450 0 dominant HG002 HG002 chr19:31439676:TGA:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr19:31439687:G:A 1,.,. 1.20143e-05 0 1 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr19:31486472:G:GGGAATTCAAGA 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr19:31486474:T:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr19:31589353:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr19:31948500:G:T 1,.,. 6.56487e-06 0 1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr19:31958450:G:GAGAAAGACAGAAAGAA 1,.,. 2.46845e-05 0 3 -1 -1 -1 17,.,. 0.647059,.,. dominant HG002 HG002 chr19:32310929:C:CAAAAG 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr19:32322515:T:TGAAAAGAAAA 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr19:32542418:C:CAGTG 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr19:32542425:G:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.454545,.,. dominant HG002 HG002 chr19:32627402:A:T 1,.,. -1 -1 -1 -1 -1 -1 ANKRD27 50_intron 34,.,. 0.411765,.,. ANKRD27/intron/ 0.0000 0.8150 0.9650 4 dominant HG002 HG002 chr19:32913303:ATATTTTT:A 1,.,. -1 -1 -1 -1 -1 -1 CEP89 50_intron 30,.,. 0.466667,.,. CEP89/intron/ 0.0000 0.9347 1.1730 6 dominant HG002 HG002 chr19:32921237:G:A 1,.,. -1 -1 -1 -1 -1 -1 CEP89 50_intron 35,.,. 0.428571,.,. CEP89/intron/ 0.0000 0.9347 1.1730 6 dominant HG002 HG002 chr19:33013187:TTAAAAAAACAAAA:T 1,.,. -1 -1 -1 -1 -1 -1 RHPN2 50_intron 33,.,. 0.272727,.,. RHPN2/intron/;RHPN2/non_coding/ 0.0001 0.5168 0.6850 2 recessive HG002 HG002 chr19:33420210:G:C 2,.,. -1 -1 -1 -1 -1 -1 PEPD 50_intron 28,.,. 1,.,. PEPD/intron/;PEPD/non_coding/ 0.0000 0.8255 1.1320 6 Prolidase deficiency 0.000 recessive HG002 HG002 chr19:33872482:C:A 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr19:33916274:T:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr19:34079701:C:CCA 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr19:35105993:T:TAATCACCACCGTGACCACGCCGCCACCGTTAATCACCGCCGTGACCACGCCGCCACCGTTAATCACCACCGTGACCACGCCGCCACCGTTATCACCGCCGTGACCACGCCACCAGCATTATCACCGCCGTGACCACGCCGCCACCAGCATTATCACCACCGTGACCACGCCACCACCGTTAATCACCACCGTGACCACGCCGCCACCGTTAATCACCGCCGTGACCACGCCGCCACCGTTAATCACCGCCGTGACCACGCCGCCACCGTTAATCACCGCCGTGACCACGCCGCCACCGTTA 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.416667,.,. dominant HG002 HG002 chr19:35174928:C:G 1,.,. 2.16832e-05 0 3 -1 -1 -1 41,.,. 0.560976,.,. dominant HG002 HG002 chr19:35371837:T:A 1,.,. -1 -1 -1 -1 -1 -1 GPR42 14_missense 23,.,. 0.782609,.,. GPR42/missense/ENST00000454971;GPR42/missense/ENST00000597214 0.3109 0.0000 1.8740 9 dominant HG002 HG002 chr19:35374308:G:GAGAA 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr19:35528923:G:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chr19:35664498:C:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.366667,.,. dominant HG002 HG002 chr19:35820058:A:G 1,.,. 7.95672e-05 0 1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr19:35820059:C:T 1,.,. 2.48102e-05 0 1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr19:35879929:G:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.407407,.,. dominant HG002 HG002 chr19:36054121:C:T 1,.,. 2.6285e-05 0 4 -1 -1 -1 THAP8 50_intron 28,.,. 0.714286,.,. THAP8/intron/;THAP8/non_coding/ 0.0000 1.1527 1.6150 8 recessive HG002 HG002 chr19:36172358:C:CATTCCCATCAGTTTCAG 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr19:36172360:T:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr19:36223687:C:A 2,.,. -1 -1 -1 -1 -1 -1 ZNF565;ZNF146 50_intron 32,.,. 1,.,. ZNF565/intron/;ZNF146/non_coding/ 0.0000;;0.3495 0.7127;;0.4039 0.9530;;0.7050 4;;2 dominant HG002 HG002 chr19:36269560:G:GGGTGCGTCTGTGT 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.37931,.,. dominant HG002 HG002 chr19:36337047:T:A 1,.,. -1 -1 -1 -1 -1 -1 ZFP14 36_3_prime_utr 27,.,. 0.481481,.,. ZFP14/3_prime_utr/ENST00000270001 0.9186 0.3609 0.5240 1 dominant HG002 HG002 chr19:36337048:C:T 1,.,. -1 -1 -1 -1 -1 -1 ZFP14 36_3_prime_utr 27,.,. 0.444444,.,. ZFP14/3_prime_utr/ENST00000270001 0.9186 0.3609 0.5240 1 dominant HG002 HG002 chr19:36337049:A:AAAAATAAATCCCTAAC 1,.,. -1 -1 -1 -1 -1 -1 ZFP14 36_3_prime_utr 26,.,. 0.461538,.,. ZFP14/3_prime_utr/ENST00000270001 0.9186 0.3609 0.5240 1 dominant HG002 HG002 chr19:36387276:C:T 1,.,. 6.57454e-06 0 1 -1 -1 -1 ZFP82 50_intron 35,.,. 0.514286,.,. ZFP82/intron/ 0.0002 0.5248 0.7190 2 dominant HG002 HG002 chr19:36403385:A:AGGC 1,.,. -1 -1 -1 -1 -1 -1 ZFP82 50_intron 34,.,. 0.529412,.,. ZFP82/intron/ 0.0002 0.5248 0.7190 2 dominant HG002 HG002 chr19:36403388:C:A 1,.,. -1 -1 -1 -1 -1 -1 ZFP82 50_intron 33,.,. 0.545455,.,. ZFP82/intron/ 0.0002 0.5248 0.7190 2 dominant HG002 HG002 chr19:36403389:A:G 1,.,. 2.78315e-05 0 4 -1 -1 -1 ZFP82 50_intron 34,.,. 0.529412,.,. ZFP82/intron/ 0.0002 0.5248 0.7190 2 recessive HG002 HG002 chr19:36838104:GCGCACACACACA:G 2,.,. 5.09762e-05 0 2 0.0220743 2 63 ZNF790 50_intron 34,.,. 1,.,. ZNF790/intron/ 0.0140 0.6289 1.1340 6 dominant HG002 HG002 chr19:36864956:G:C 1,.,. -1 -1 -1 -1 -1 -1 ZNF345 50_intron 35,.,. 0.485714,.,. ZNF345/intron/;ZNF345/non_coding/ 0.0033 4.1663 1.9700 9 dominant HG002 HG002 chr19:36927856:GTGTGTATATATA:G 1,.,. -1 -1 -1 -1 -1 -1 ZNF568 50_intron 42,.,. 0.547619,.,. ZNF568/intron/ 0.0012 0.6505 1.0340 5 dominant HG002 HG002 chr19:37116636:G:A 1,.,. 2.6293e-05 0 4 -1 -1 -1 ZNF420;ZNF585A 50_intron 41,.,. 0.658537,.,. ZNF420/intron/;ZNF585A/non_coding/ 0.0000;;0.0035 0.6737;;0.5705 0.8930;;0.8920 4;;4 dominant HG002 HG002 chr19:37343104:C:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF875 50_intron 28,.,. 0.642857,.,. ZNF875/intron/;ZNF875/non_coding/ 0.0001 1.3088 1.8850 9 dominant HG002 HG002 chr19:37345485:A:T 1,.,. -1 -1 -1 -1 -1 -1 ZNF875 50_intron 29,.,. 0.655172,.,. ZNF875/intron/;ZNF875/non_coding/ 0.0001 1.3088 1.8850 9 dominant HG002 HG002 chr19:37361923:AAC:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF875 50_intron 33,.,. 0.484848,.,. ZNF875/intron/;ZNF875/non_coding/ 0.0001 1.3088 1.8850 9 dominant HG002 HG002 chr19:37445404:G:T 1,.,. 1.31453e-05 0 2 -1 -1 -1 ZNF569 50_intron 42,.,. 0.47619,.,. ZNF569/intron/;ZNF569/non_coding/ 0.0000 0.6597 0.8650 3 dominant HG002 HG002 chr19:37711464:A:G 1,.,. 1.97081e-05 0 3 -1 -1 -1 AC093227.2;ZNF607 50_intron 41,.,. 0.512195,.,. AC093227.2/intron/;ZNF607/intron/ 0.1898 0.4593 0.9660 4 dominant HG002 HG002 chr19:37847974:G:T 1,.,. 1.31489e-05 0 2 -1 -1 -1 AC016582.1 53_non_coding 34,.,. 0.441176,.,. AC016582.1/non_coding/ dominant HG002 HG002 chr19:37973599:C:G 1,.,. -1 -1 -1 -1 -1 -1 SIPA1L3 50_intron 33,.,. 0.515152,.,. SIPA1L3/intron/;SIPA1L3/non_coding/ 0.0005 0.4498 0.5590 1 Cataract 45 0.000 dominant HG002 HG002 chr19:37973604:A:G 1,.,. -1 -1 -1 -1 -1 -1 SIPA1L3 50_intron 33,.,. 0.515152,.,. SIPA1L3/intron/;SIPA1L3/non_coding/ 0.0005 0.4498 0.5590 1 Cataract 45 0.000 dominant HG002 HG002 chr19:38176744:G:A 1,.,. 1.97231e-05 0 3 -1 -1 -1 SIPA1L3 50_intron 29,.,. 0.448276,.,. SIPA1L3/intron/;SIPA1L3/non_coding/ 0.0005 0.4498 0.5590 1 Cataract 45 0.000 dominant HG002 HG002 chr19:38270268:A:G 1,.,. -1 -1 -1 -1 -1 -1 SPINT2 50_intron 21,.,. 0.333333,.,. SPINT2/intron/;SPINT2/non_coding/ 0.0001 0.6370 0.9350 4 Congenital secretory sodium diarrhea 3 0.000 dominant HG002 HG002 chr19:38280840:C:G 1,.,. -1 -1 -1 -1 -1 -1 SPINT2 50_intron 23,.,. 0.347826,.,. SPINT2/intron/;SPINT2/non_coding/ 0.0001 0.6370 0.9350 4 Congenital secretory sodium diarrhea 3 0.000 dominant HG002 HG002 chr19:38342192:A:G 1,.,. 6.65026e-06 0 1 -1 -1 -1 CATSPERG 50_intron 17,.,. 0.470588,.,. CATSPERG/intron/ 0.0000 0.7455 0.8730 4 dominant HG002 HG002 chr19:39199494:T:C 1,.,. -1 -1 -1 -1 -1 -1 NCCRP1 50_intron 25,.,. 0.52,.,. NCCRP1/intron/ 0.0000 1.0394 1.3960 7 dominant HG002 HG002 chr19:40608865:C:T 1,.,. 2.22783e-05 0 3 -1 -1 -1 LTBP4 50_intron 22,.,. 0.454545,.,. LTBP4/intron/;LTBP4/non_coding/ 0.0000 0.6188 0.7340 2 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0.000 dominant HG002 HG002 chr19:40831478:C:A 1,.,. 1.3155e-05 0 2 -1 -1 -1 AC008537.1 50_intron 34,.,. 0.529412,.,. AC008537.1/intron/ recessive HG002 HG002 chr19:40843714:C:A 2,.,. -1 -1 -1 -1 -1 -1 CYP2A6 36_3_prime_utr 26,.,. 1,.,. CYP2A6/3_prime_utr/ENST00000301141 0.0000 0.6371 0.8790 4 Lung cancer;Tobacco addiction, susceptibility to;Warfarin response 0.000 recessive HG002 HG002 chr19:40843716:G:C 2,.,. -1 -1 -1 -1 -1 -1 CYP2A6 36_3_prime_utr 26,.,. 1,.,. CYP2A6/3_prime_utr/ENST00000301141 0.0000 0.6371 0.8790 4 Lung cancer;Tobacco addiction, susceptibility to;Warfarin response 0.000 recessive HG002 HG002 chr19:40843727:C:G 2,.,. -1 -1 -1 -1 -1 -1 CYP2A6 36_3_prime_utr 26,.,. 1,.,. CYP2A6/3_prime_utr/ENST00000301141 0.0000 0.6371 0.8790 4 Lung cancer;Tobacco addiction, susceptibility to;Warfarin response 0.000 dominant HG002 HG002 chr19:40848814:G:A 1,.,. 6.65371e-06 0 1 -1 -1 -1 AC008537.1;CYP2A6 50_intron 21,.,. 0.52381,.,. AC008537.1/intron/;CYP2A6/intron/;CYP2A6/non_coding/ 0.0000 0.6371 0.8790 4 Lung cancer;Tobacco addiction, susceptibility to;Warfarin response 0.000 dominant HG002 HG002 chr19:40861139:T:C 1,.,. 2.64967e-05 0 4 -1 -1 -1 AC008537.1 50_intron 34,.,. 0.235294,.,. AC008537.1/intron/ dominant HG002 HG002 chr19:40880763:CAGGACAGGTGCAAACTCAGTCAGAGAAACACGAGGGAGAGAGAGAGAGAG:C 1,.,. -1 -1 -1 -1 -1 -1 AC008537.1;CYP2A7 50_intron 29,.,. 0.551724,.,. AC008537.1/intron/;CYP2A7/intron/ 0.0000 0.8769 1.1580 6 dominant HG002 HG002 chr19:41050280:A:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr19:41050282:G:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr19:41050283:A:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr19:41142087:A:AAGGGAGGGAGGG 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr19:41199697:G:A 1,.,. -1 -1 -1 -1 -1 -1 CYP2S1 50_intron 27,.,. 0.407407,.,. CYP2S1/intron/ 0.0000 0.7390 0.9930 5 dominant HG002 HG002 chr19:42769247:C:A 1,.,. -1 -1 -1 -1 -1 -1 PSG8 50_intron 29,.,. 0.551724,.,. PSG8/intron/ 0.0000 1.3716 1.7070 8 recessive HG002 HG002 chr19:43240887:T:G 2,.,. -1 -1 -1 0.00595655 2 17 PSG9;CEACAMP10 50_intron 24,.,. 1,.,. PSG9/intron/;PSG9/non_coding/;CEACAMP10/non_coding/ 0.0000 1.1559 1.4740 8 recessive HG002 HG002 chr19:43240888:T:G 2,.,. -1 -1 -1 0.00630694 2 18 PSG9;CEACAMP10 50_intron 24,.,. 1,.,. PSG9/intron/;PSG9/non_coding/;CEACAMP10/non_coding/ 0.0000 1.1559 1.4740 8 recessive HG002 HG002 chr19:43240890:C:G 2,.,. -1 -1 -1 0.00595655 2 17 PSG9;CEACAMP10 50_intron 23,.,. 1,.,. PSG9/intron/;PSG9/non_coding/;CEACAMP10/non_coding/ 0.0000 1.1559 1.4740 8 recessive HG002 HG002 chr19:43240892:C:T 2,.,. -1 -1 -1 0.0049054 2 14 PSG9;CEACAMP10 50_intron 24,.,. 1,.,. PSG9/intron/;PSG9/non_coding/;CEACAMP10/non_coding/ 0.0000 1.1559 1.4740 8 recessive HG002 HG002 chr19:43240896:T:G 2,.,. -1 -1 -1 0.00385424 2 11 PSG9;CEACAMP10 50_intron 24,.,. 1,.,. PSG9/intron/;PSG9/non_coding/;CEACAMP10/non_coding/ 0.0000 1.1559 1.4740 8 dominant HG002 HG002 chr19:43451945:T:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chr19:43451947:A:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. recessive HG002 HG002 chr19:43502997:A:G 2,.,. -1 -1 -1 -1 -1 -1 PHLDB3 50_intron 15,.,. 1,.,. PHLDB3/intron/;PHLDB3/non_coding/ 0.0000 1.1989 1.4340 7 recessive HG002 HG002 chr19:43502998:G:C 2,.,. -1 -1 -1 -1 -1 -1 PHLDB3 50_intron 14,.,. 1,.,. PHLDB3/intron/;PHLDB3/non_coding/ 0.0000 1.1989 1.4340 7 recessive HG002 HG002 chr19:43502999:A:C 2,.,. -1 -1 -1 -1 -1 -1 PHLDB3 50_intron 15,.,. 1,.,. PHLDB3/intron/;PHLDB3/non_coding/ 0.0000 1.1989 1.4340 7 recessive HG002 HG002 chr19:43503002:TGTCCACTA:T 2,.,. -1 -1 -1 -1 -1 -1 PHLDB3 50_intron 15,.,. 1,.,. PHLDB3/intron/;PHLDB3/non_coding/ 0.0000 1.1989 1.4340 7 dominant HG002 HG002 chr19:43584222:T:TGTGACCCAGAA 1,.,. -1 -1 -1 -1 -1 -1 L34079.1 50_intron 30,.,. 0.466667,.,. L34079.1/intron/ dominant HG002 HG002 chr19:43584228:A:T 1,.,. -1 -1 -1 -1 -1 -1 L34079.1 50_intron 32,.,. 0.5,.,. L34079.1/intron/ dominant HG002 HG002 chr19:43790003:A:AGGTAT 1,.,. -1 -1 -1 -1 -1 -1 LYPD5 50_intron 28,.,. 0.321429,.,. LYPD5/intron/ 0.0000 1.0989 1.5780 8 dominant HG002 HG002 chr19:43826490:T:TCA 1,.,. -1 -1 -1 -1 -1 -1 LYPD5 50_intron 49,.,. 0.387755,.,. LYPD5/intron/;LYPD5/non_coding/ 0.0000 1.0989 1.5780 8 recessive HG002 HG002 chr19:43998385:A:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr19:43998386:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr19:43998387:A:T 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr19:43998388:G:C 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr19:43998390:G:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr19:44088370:T:G 1,.,. -1 -1 -1 -1 -1 -1 ZNF284 36_3_prime_utr 32,.,. 0.4375,.,. ZNF284/3_prime_utr/ENST00000421176 0.0002 0.8652 1.4000 7 recessive HG002 HG002 chr19:44091532:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr19:44091533:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr19:44153371:A:G 1,.,. 2.63206e-05 0 4 -1 -1 -1 ZNF234 50_intron 43,.,. 0.55814,.,. ZNF234/intron/ 0.0563 0.6043 1.2670 7 dominant HG002 HG002 chr19:44337850:C:A 1,.,. 2.22079e-05 0 2 -1 -1 -1 ZNF112 50_intron 44,.,. 0.5,.,. ZNF112/intron/ 0.0138 0.4437 0.5880 2 dominant HG002 HG002 chr19:44361912:TTTTTCTGAG:T 1,.,. -1 -1 -1 -1 -1 -1 AC245748.1 50_intron 32,.,. 0.65625,.,. AC245748.1/intron/ dominant HG002 HG002 chr19:44361922:C:G 1,.,. -1 -1 -1 -1 -1 -1 AC245748.1 50_intron 32,.,. 0.65625,.,. AC245748.1/intron/ dominant HG002 HG002 chr19:44490173:A:AGGAT 1,.,. -1 -1 -1 -1 -1 -1 ZNF180 50_intron 42,.,. 0.452381,.,. ZNF180/intron/;ZNF180/non_coding/ 0.0032 1.1155 1.8460 9 dominant HG002 HG002 chr19:44490176:G:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF180 50_intron 43,.,. 0.465116,.,. ZNF180/intron/;ZNF180/non_coding/ 0.0032 1.1155 1.8460 9 dominant HG002 HG002 chr19:45217677:C:T 1,.,. 2.63089e-05 0 4 -1 -1 -1 EXOC3L2 14_missense 16,.,. 0.625,.,. EXOC3L2/missense/ENST00000413988 0.0457 0.4583 0.6870 2 Brain malformation renal syndrome dominant HG002 HG002 chr19:45301895:G:A 1,.,. -1 -1 -1 -1 -1 -1 MARK4 50_intron 23,.,. 0.347826,.,. MARK4/intron/ 1.0000 0.2463 0.3610 0 dominant HG002 HG002 chr19:45648362:T:TG 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.277778,.,. dominant HG002 HG002 chr19:45648379:C:T 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.333333,.,. dominant HG002 HG002 chr19:46096684:A:G 1,.,. 6.57263e-06 0 1 -1 -1 -1 45,.,. 0.488889,.,. dominant HG002 HG002 chr19:46292084:C:CTCCA 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.590909,.,. dominant HG002 HG002 chr19:46498299:CAG:C 1,.,. -1 -1 -1 -1 -1 -1 PPP5D1 53_non_coding 28,.,. 0.642857,.,. PPP5D1/non_coding/ dominant HG002 HG002 chr19:46498305:T:TTGTAGAGACGTCTGGACAGGCCAACAGACCCTGTCTACAACC 1,.,. -1 -1 -1 0.000700771 0 2 PPP5D1 53_non_coding 27,.,. 0.62963,.,. PPP5D1/non_coding/ dominant HG002 HG002 chr19:46635594:GA:G 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.388889,.,. dominant HG002 HG002 chr19:46635605:C:G 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.352941,.,. dominant HG002 HG002 chr19:46635608:A:AGGGGGTGTGGGGTGGGAGAGGATGGGGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGGGAGATGGAGGGAGGGGGTG 1,.,. -1 -1 -1 -1 -1 -1 15,.,. 0.266667,.,. recessive HG002 HG002 chr19:46684029:A:ATAGAGT 2,.,. -1 -1 -1 -1 -1 -1 PRKD2 50_intron 26,.,. 1,.,. PRKD2/intron/;PRKD2/non_coding/ 1.0000 0.2689 0.3810 0 recessive HG002 HG002 chr19:46684030:A:G 2,.,. -1 -1 -1 -1 -1 -1 PRKD2 50_intron 26,.,. 1,.,. PRKD2/intron/;PRKD2/non_coding/ 1.0000 0.2689 0.3810 0 dominant HG002 HG002 chr19:47338690:T:A 1,.,. -1 -1 -1 0.000700771 0 2 C5AR2 50_intron 19,.,. 0.368421,.,. C5AR2/intron/ 0.3741 0.0000 1.7880 8 recessive HG002 HG002 chr19:47396722:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr19:47615590:GTTCATAT:G 2,.,. -1 -1 -1 -1 -1 -1 BICRA 50_intron 33,.,. 1,.,. BICRA/intron/ 0.0278 0.4576 0.6590 2 Coffin-Siris syndrome 12 0.000 recessive HG002 HG002 chr19:47615598:C:G 2,.,. -1 -1 -1 -1 -1 -1 BICRA 50_intron 32,.,. 1,.,. BICRA/intron/ 0.0278 0.4576 0.6590 2 Coffin-Siris syndrome 12 0.000 recessive HG002 HG002 chr19:47615600:G:A 2,.,. 3.01951e-05 0 3 -1 -1 -1 BICRA 50_intron 34,.,. 1,.,. BICRA/intron/ 0.0278 0.4576 0.6590 2 Coffin-Siris syndrome 12 0.000 recessive HG002 HG002 chr19:47615602:A:G 2,.,. -1 -1 -1 -1 -1 -1 BICRA 50_intron 35,.,. 1,.,. BICRA/intron/ 0.0278 0.4576 0.6590 2 Coffin-Siris syndrome 12 0.000 dominant HG002 HG002 chr19:47974787:TTTGAGCG:T 1,.,. -1 -1 -1 -1 -1 -1 BSPH1 50_intron 34,.,. 0.5,.,. BSPH1/intron/ 0.0000 0.9332 1.4350 7 dominant HG002 HG002 chr19:47974796:G:A 1,.,. -1 -1 -1 -1 -1 -1 BSPH1 50_intron 34,.,. 0.5,.,. BSPH1/intron/ 0.0000 0.9332 1.4350 7 dominant HG002 HG002 chr19:48407802:C:T 1,.,. -1 -1 -1 -1 -1 -1 GRIN2D 50_intron 24,.,. 0.5,.,. GRIN2D/intron/ 0.0007 0.4822 0.6420 2 Developmental and epileptic encephalopathy, 46 0.000 dominant HG002 HG002 chr19:48428790:GC:G 1,.,. -1 -1 -1 -1 -1 -1 GRIN2D 50_intron 29,.,. 0.344828,.,. GRIN2D/intron/ 0.0007 0.4822 0.6420 2 Developmental and epileptic encephalopathy, 46 0.000 recessive HG002 HG002 chr19:48569453:CATCT:C 2,.,. 0.00027983 0 5 -1 -1 -1 SULT2B1 50_intron 32,.,. 1,.,. SULT2B1/intron/ 0.0013 0.5682 0.8520 3 Ichthyosis, congenital, autosomal recessive 14 0.000 recessive HG002 HG002 chr19:48569459:T:C 2,.,. -1 -1 -1 -1 -1 -1 SULT2B1 50_intron 32,.,. 1,.,. SULT2B1/intron/ 0.0013 0.5682 0.8520 3 Ichthyosis, congenital, autosomal recessive 14 0.000 dominant HG002 HG002 chr19:48778555:GA:G 1,.,. -1 -1 -1 0.00105116 0 3 24,.,. 0.5,.,. recessive HG002 HG002 chr19:48903380:A:AGATGGATGGGCAGGTG 2,.,. -1 -1 -1 -1 -1 -1 NUCB1 50_intron 28,.,. 1,.,. NUCB1/intron/;NUCB1/non_coding/ 0.0000 0.7850 1.0040 5 dominant HG002 HG002 chr19:49376310:T:C 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.52,.,. dominant HG002 HG002 chr19:49386797:GGGAGGGGAA:G 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.48,.,. dominant HG002 HG002 chr19:49665801:T:G 1,.,. -1 -1 -1 -1 -1 -1 IRF3;BCL2L12 35_5_prime_utr 19,.,. 0.684211,.,. IRF3/5_prime_utr&NMD_transcript/ENST00000597636;BCL2L12/5_prime_utr/ENST00000616144;BCL2L12/5_prime_utr/ENST00000619007;BCL2L12/5_prime_utr/ENST00000614495;BCL2L12/5_prime_utr/ENST00000611631;IRF3/5_prime_utr/ENST00000600453;IRF3/5_prime_utr/ENST00000597198;BCL2L12/5_prime_utr/ENST00000441864;BCL2L12/5_prime_utr/ENST00000246785;IRF3/5_prime_utr/ENST00000377135;IRF3/5_prime_utr/ENST00000377139;IRF3/5_prime_utr/ENST00000598808;IRF3/5_prime_utr/ENST00000601291;IRF3/5_prime_utr/ENST00000593818;IRF3/5_prime_utr/ENST00000601809;IRF3/5_prime_utr/ENST00000593337 0.0000;;0.0000 0.7032;;1.1410 0.9490;;1.5710 4;;8 Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 0.000 dominant HG002 HG002 chr19:49702641:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 CPT1C 50_intron 28,.,. 0.464286,.,. CPT1C/intron/;CPT1C/non_coding/ 0.0000 0.6276 0.7780 3 Hereditary spastic paraplegia 73 0.000 recessive HG002 HG002 chr19:49897483:C:G 2,.,. -1 -1 -1 -1 -1 -1 IL4I1 50_intron 22,.,. 1,.,. IL4I1/intron/ 0.0000 0.7948 1.1260 6 dominant HG002 HG002 chr19:49970172:A:ATGCG 1,.,. -1 -1 -1 -1 -1 -1 SIGLEC16 05_frameshift 32,.,. 0.5,.,. SIGLEC16/frameshift/ENST00000602139 dominant HG002 HG002 chr19:49970175:T:C 1,.,. -1 -1 -1 -1 -1 -1 SIGLEC16 14_missense 33,.,. 0.515152,.,. SIGLEC16/missense/ENST00000602139 dominant HG002 HG002 chr19:50273599:G:GGT 1,.,. 2.43078e-05 0 2 -1 -1 -1 MYH14 50_intron 14,.,. 0.642857,.,. MYH14/intron/ 0.0000 0.5553 0.6470 2 Autosomal dominant nonsyndromic hearing loss 4A;Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0.000 dominant HG002 HG002 chr19:50499137:AGAGAGACG:A 1,.,. 2.58953e-05 0 2 -1 -1 -1 13,.,. 0.615385,.,. dominant HG002 HG002 chr19:50499150:G:C 1,.,. -1 -1 -1 -1 -1 -1 12,.,. 0.666667,.,. dominant HG002 HG002 chr19:50754772:G:A 1,.,. 6.58493e-06 0 1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr19:50832537:G:T 1,.,. -1 -1 -1 -1 -1 -1 KLK15 50_intron 25,.,. 0.4,.,. KLK15/intron/ 0.0000 0.9816 1.4260 7 dominant HG002 HG002 chr19:50859333:G:T 1,.,. -1 -1 -1 -1 -1 -1 KLK3 50_intron 28,.,. 0.5,.,. KLK3/intron/;KLK3/non_coding/ 0.0000 0.7330 1.0650 5 dominant HG002 HG002 chr19:50859334:T:G 1,.,. -1 -1 -1 -1 -1 -1 KLK3 50_intron 27,.,. 0.518519,.,. KLK3/intron/;KLK3/non_coding/ 0.0000 0.7330 1.0650 5 dominant HG002 HG002 chr19:50933130:TCTTTTCTTTTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.56,.,. dominant HG002 HG002 chr19:50933146:T:C 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.583333,.,. dominant HG002 HG002 chr19:51012300:G:A 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.578947,.,. dominant HG002 HG002 chr19:51097141:G:GTGCTTAC 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr19:51165506:TATTAAGACCA:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr19:51165519:T:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chr19:51386706:A:ATATTAATT 1,.,. -1 -1 -1 -1 -1 -1 LIM2 50_intron 29,.,. 0.655172,.,. LIM2/intron/ 0.0004 0.6904 1.0790 5 Cataract 19 multiple types 0.000 dominant HG002 HG002 chr19:51386712:T:A 1,.,. -1 -1 -1 -1 -1 -1 LIM2 50_intron 30,.,. 0.666667,.,. LIM2/intron/ 0.0004 0.6904 1.0790 5 Cataract 19 multiple types 0.000 dominant HG002 HG002 chr19:51576945:G:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF175 50_intron 34,.,. 0.441176,.,. ZNF175/intron/ 0.0434 0.5349 0.9650 4 dominant HG002 HG002 chr19:51676962:G:A 1,.,. 3.50582e-05 0 3 -1 -1 -1 32,.,. 0.53125,.,. dominant HG002 HG002 chr19:51725222:A:C 1,.,. -1 -1 -1 -1 -1 -1 15,.,. 0.6,.,. dominant HG002 HG002 chr19:52361607:AAATTTATTTT:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF610 50_intron 39,.,. 0.410256,.,. ZNF610/intron/ 0.0000 0.9302 1.4510 8 dominant HG002 HG002 chr19:52388133:C:A 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.571429,.,. dominant HG002 HG002 chr19:52420347:G:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr19:52553034:TCATATTTACACAC:T 1,.,. -1 -1 -1 -1 -1 -1 ZNF808 50_intron 32,.,. 0.40625,.,. ZNF808/intron/ 0.0728 0.5688 1.1940 6 Pancreatic agenesis 3 dominant HG002 HG002 chr19:52747106:AT:A 1,.,. 1.31409e-05 0 2 -1 -1 -1 36,.,. 0.666667,.,. dominant HG002 HG002 chr19:52809514:A:C 1,.,. 1.3138e-05 0 2 -1 -1 -1 ZNF28 50_intron 37,.,. 0.540541,.,. ZNF28/intron/;ZNF28/non_coding/ 0.2630 0.4673 1.7120 8 dominant HG002 HG002 chr19:52856474:TCTATGCGCCTC:T 1,.,. 2.14399e-05 0 1 -1 -1 -1 ZNF28;ZNF468 50_intron 26,.,. 0.384615,.,. ZNF28/intron/;ZNF468/intron/ 0.2630;;0.0007 0.4673;;1.1080 1.7120;;1.8080 8;;9 dominant HG002 HG002 chr19:53014912:T:C 1,.,. -1 -1 -1 0.000700771 0 2 ERVV-1 30_synonymous 21,.,. 0.52381,.,. ERVV-1/synonymous/ENST00000602168 dominant HG002 HG002 chr19:53015272:G:A 1,.,. -1 -1 -1 -1 -1 -1 ERVV-1 30_synonymous 20,.,. 0.55,.,. ERVV-1/synonymous/ENST00000602168 dominant HG002 HG002 chr19:53015298:G:A 1,.,. -1 -1 -1 0.000700771 0 2 ERVV-1 14_missense 21,.,. 0.52381,.,. ERVV-1/missense/ENST00000602168 dominant HG002 HG002 chr19:53015312:A:G 1,.,. -1 -1 -1 0.00105116 0 3 ERVV-1 14_missense 21,.,. 0.52381,.,. ERVV-1/missense/ENST00000602168 dominant HG002 HG002 chr19:53015451:C:A 1,.,. 1.97145e-05 0 3 -1 -1 -1 ERVV-1 14_missense 20,.,. 0.5,.,. ERVV-1/missense/ENST00000602168 dominant HG002 HG002 chr19:53015452:A:C 1,.,. 1.97202e-05 0 3 -1 -1 -1 ERVV-1 30_synonymous 21,.,. 0.52381,.,. ERVV-1/synonymous/ENST00000602168 dominant HG002 HG002 chr19:53015732:T:C 1,.,. -1 -1 -1 -1 -1 -1 ERVV-1 36_3_prime_utr 20,.,. 0.5,.,. ERVV-1/3_prime_utr/ENST00000602168 dominant HG002 HG002 chr19:53015737:C:T 1,.,. 6.57212e-06 0 1 -1 -1 -1 ERVV-1 36_3_prime_utr 21,.,. 0.52381,.,. ERVV-1/3_prime_utr/ENST00000602168 recessive HG002 HG002 chr19:53051010:A:AGG 2,.,. -1 -1 -1 -1 -1 -1 ERVV-2 36_3_prime_utr 16,.,. 1,.,. ERVV-2/3_prime_utr/ENST00000601417 0.3686 0.3283 1.4510 8 recessive HG002 HG002 chr19:53051012:G:A 2,.,. -1 -1 -1 -1 -1 -1 ERVV-2 36_3_prime_utr 16,.,. 1,.,. ERVV-2/3_prime_utr/ENST00000601417 0.3686 0.3283 1.4510 8 recessive HG002 HG002 chr19:53051013:A:G 2,.,. -1 -1 -1 -1 -1 -1 ERVV-2 36_3_prime_utr 16,.,. 1,.,. ERVV-2/3_prime_utr/ENST00000601417 0.3686 0.3283 1.4510 8 dominant HG002 HG002 chr19:53264902:A:G 1,.,. 1.9706e-05 0 3 -1 -1 -1 41,.,. 0.414634,.,. recessive HG002 HG002 chr19:53298750:T:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr19:53400767:T:C 2,.,. 0.00232198 1 12 0.0140154 0 40 ZNF765 50_intron 40,.,. 1,.,. ZNF765/non_coding/;ZNF765/intron/ 0.0000 0.8166 1.0740 5 dominant HG002 HG002 chr19:53433058:G:C 1,.,. -1 -1 -1 -1 -1 -1 AC022137.3;TPM3P9 50_intron 28,.,. 0.642857,.,. AC022137.3/intron/;TPM3P9/non_coding/ dominant HG002 HG002 chr19:53477435:GGGTT:G 1,.,. -1 -1 -1 -1 -1 -1 ZNF813 50_intron 41,.,. 0.463415,.,. ZNF813/intron/ 0.2236 0.4633 1.1930 6 dominant HG002 HG002 chr19:53477440:G:T 1,.,. -1 -1 -1 -1 -1 -1 ZNF813 50_intron 43,.,. 0.44186,.,. ZNF813/intron/ 0.2236 0.4633 1.1930 6 dominant HG002 HG002 chr19:53478810:A:T 1,.,. 1.97158e-05 0 3 -1 -1 -1 ZNF813 50_intron 39,.,. 0.512821,.,. ZNF813/intron/ 0.2236 0.4633 1.1930 6 dominant HG002 HG002 chr19:53560127:C:T 1,.,. 1.3386e-05 0 2 -1 -1 -1 ZNF331 50_intron 37,.,. 0.459459,.,. ZNF331/intron/ 0.4220 0.3419 1.0730 5 dominant HG002 HG002 chr19:53687086:G:GCTGCCA 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr19:53687087:G:A 1,.,. 6.58796e-06 0 1 -1 -1 -1 34,.,. 0.529412,.,. recessive HG002 HG002 chr19:53766463:A:AATC 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr19:53766465:C:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr19:53880510:G:GAGAGATTC 2,.,. -1 -1 -1 -1 -1 -1 PRKCG 50_intron 24,.,. 1,.,. PRKCG/intron/ 0.9943 0.3475 0.4760 1 Spinocerebellar ataxia type 14 0.000 recessive HG002 HG002 chr19:53880514:T:G 2,.,. -1 -1 -1 -1 -1 -1 PRKCG 50_intron 24,.,. 1,.,. PRKCG/intron/ 0.9943 0.3475 0.4760 1 Spinocerebellar ataxia type 14 0.000 recessive HG002 HG002 chr19:53880518:T:G 2,.,. -1 -1 -1 -1 -1 -1 PRKCG 50_intron 24,.,. 1,.,. PRKCG/intron/ 0.9943 0.3475 0.4760 1 Spinocerebellar ataxia type 14 0.000 recessive HG002 HG002 chr19:53880522:G:A 2,.,. -1 -1 -1 -1 -1 -1 PRKCG 50_intron 23,.,. 1,.,. PRKCG/intron/ 0.9943 0.3475 0.4760 1 Spinocerebellar ataxia type 14 0.000 recessive HG002 HG002 chr19:53880576:TAGAA:T 2,.,. -1 -1 -1 -1 -1 -1 PRKCG 50_intron 24,.,. 1,.,. PRKCG/intron/ 0.9943 0.3475 0.4760 1 Spinocerebellar ataxia type 14 0.000 recessive HG002 HG002 chr19:53880584:C:G 2,.,. -1 -1 -1 -1 -1 -1 PRKCG 50_intron 24,.,. 1,.,. PRKCG/intron/ 0.9943 0.3475 0.4760 1 Spinocerebellar ataxia type 14 0.000 recessive HG002 HG002 chr19:53881085:G:A 2,.,. 6.67949e-06 0 1 -1 -1 -1 PRKCG 50_intron 24,.,. 1,.,. PRKCG/intron/ 0.9943 0.3475 0.4760 1 Spinocerebellar ataxia type 14 0.000 recessive HG002 HG002 chr19:53881087:A:G 2,.,. -1 -1 -1 0.00140154 1 4 PRKCG 50_intron 23,.,. 1,.,. PRKCG/intron/ 0.9943 0.3475 0.4760 1 Spinocerebellar ataxia type 14 0.000 dominant HG002 HG002 chr19:54042874:G:T 1,.,. -1 -1 -1 -1 -1 -1 VSTM1 50_intron 38,.,. 0.394737,.,. VSTM1/intron/ 0.0000 0.7608 1.0430 5 dominant HG002 HG002 chr19:54411256:G:C 1,.,. -1 -1 -1 -1 -1 -1 6,.,. 0.333333,.,. dominant HG002 HG002 chr19:54624630:AG:A 1,.,. -1 -1 -1 -1 -1 -1 LILRB1 50_intron 27,.,. 0.518519,.,. LILRB1/intron/ 0.0000 0.8691 1.0780 5 dominant HG002 HG002 chr19:54832998:G:T 1,.,. -1 -1 -1 -1 -1 -1 KIR2DS4 50_intron 16,.,. 0.25,.,. KIR2DS4/intron/ recessive HG002 HG002 chr19:54834213:A:G 2,.,. 0.00227168 0 118 -1 -1 -1 KIR2DS4 50_intron 12,.,. 1,.,. KIR2DS4/intron/ recessive HG002 HG002 chr19:54834225:C:T 2,.,. -1 -1 -1 -1 -1 -1 KIR2DS4 50_intron 12,.,. 1,.,. KIR2DS4/intron/ recessive HG002 HG002 chr19:54834233:G:T 2,.,. -1 -1 -1 -1 -1 -1 KIR2DS4 50_intron 12,.,. 1,.,. KIR2DS4/intron/ dominant HG002 HG002 chr19:54838337:T:G 1,.,. -1 -1 -1 -1 -1 -1 KIR2DS4 50_intron 23,.,. 0.347826,.,. KIR2DS4/intron/ recessive HG002 HG002 chr19:54838450:CCACATAT:C 2,.,. -1 -1 -1 0.00946041 1 27 KIR2DS4 50_intron 23,.,. 1,.,. KIR2DS4/intron/ recessive HG002 HG002 chr19:54839321:A:G 2,.,. -1 -1 -1 0.00105116 0 3 KIR2DS4 50_intron 23,.,. 1,.,. KIR2DS4/intron/ recessive HG002 HG002 chr19:54996063:C:A 2,.,. -1 -1 -1 0.0049054 0 14 NLRP2 50_intron 24,.,. 1,.,. NLRP2/intron/;NLRP2/non_coding/ 0.0000 1.0430 1.2320 6 Oocyte/zygote/embryo maturation arrest 18 dominant HG002 HG002 chr19:55010295:G:GGCGTT 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr19:55010297:T:G 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. recessive HG002 HG002 chr19:55090240:G:T 2,.,. -1 -1 -1 0.000700771 0 2 14,.,. 1,.,. dominant HG002 HG002 chr19:55097030:TTC:T 1,.,. -1 -1 -1 -1 -1 -1 PPP1R12C 50_intron 21,.,. 0.52381,.,. PPP1R12C/intron/;PPP1R12C/non_coding/ 0.0000 0.6083 0.7740 3 dominant HG002 HG002 chr19:55097036:G:C 1,.,. 1.04138e-05 0 1 -1 -1 -1 PPP1R12C 50_intron 21,.,. 0.52381,.,. PPP1R12C/intron/;PPP1R12C/non_coding/ 0.0000 0.6083 0.7740 3 dominant HG002 HG002 chr19:55097362:C:G 1,.,. -1 -1 -1 -1 -1 -1 PPP1R12C 50_intron 20,.,. 0.55,.,. PPP1R12C/intron/ 0.0000 0.6083 0.7740 3 dominant HG002 HG002 chr19:55155713:T:TG 1,.,. -1 -1 -1 0.000700771 0 2 TNNI3;AC010327.2 50_intron 19,.,. 0.368421,.,. TNNI3/intron/;TNNI3/non_coding/;AC010327.2/intron/ 0.0000 0.7758 1.0990 5 Hypertrophic cardiomyopathy 7;Cardiomyopathy, familial restrictive, 1;Dilated cardiomyopathy 1FF;Dilated cardiomyopathy 2A 0.000 recessive HG002 HG002 chr19:55327105:C:A 2,.,. -1 -1 -1 -1 -1 -1 TMEM150B 53_non_coding 25,.,. 1,.,. TMEM150B/non_coding/ 0.0000 1.3318 1.7550 8 recessive HG002 HG002 chr19:55327106:A:G 2,.,. 0.02 0 1 -1 -1 -1 TMEM150B 53_non_coding 25,.,. 1,.,. TMEM150B/non_coding/ 0.0000 1.3318 1.7550 8 recessive HG002 HG002 chr19:55327107:G:C 2,.,. -1 -1 -1 -1 -1 -1 TMEM150B 53_non_coding 25,.,. 1,.,. TMEM150B/non_coding/ 0.0000 1.3318 1.7550 8 dominant HG002 HG002 chr19:55567882:T:C 1,.,. 2.65248e-05 0 4 -1 -1 -1 25,.,. 0.4,.,. dominant HG002 HG002 chr19:55701363:C:A 1,.,. 1.32168e-05 0 2 -1 -1 -1 EPN1 36_3_prime_utr 15,.,. 0.333333,.,. EPN1/3_prime_utr/ENST00000270460 0.0003 0.5306 0.7360 2 dominant HG002 HG002 chr19:55797998:T:A 1,.,. -1 -1 -1 -1 -1 -1 NLRP11 50_intron 37,.,. 0.432432,.,. NLRP11/intron/ 0.0000 0.6531 0.8250 3 dominant HG002 HG002 chr19:55862255:A:G 1,.,. -1 -1 -1 -1 -1 -1 NLRP4 50_intron 33,.,. 0.424242,.,. NLRP4/intron/ 0.0000 0.4983 0.6450 2 dominant HG002 HG002 chr19:55862636:TGTTTATTGAGACCACTGATTGGGTTTCAGAGAAGACTATAGCGTAAGTCTCC:T 1,.,. -1 -1 -1 -1 -1 -1 NLRP4 50_intron 33,.,. 0.393939,.,. NLRP4/intron/ 0.0000 0.4983 0.6450 2 recessive HG002 HG002 chr19:55884379:TATCTA:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr19:55884386:T:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr19:55942126:A:ACAACAAATT 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.636364,.,. dominant HG002 HG002 chr19:55943487:A:C 1,.,. 3.29924e-05 0 1 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr19:55943492:A:C 1,.,. 2.03514e-05 0 3 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr19:56001436:A:T 1,.,. -1 -1 -1 -1 -1 -1 NLRP5 50_intron 25,.,. 0.6,.,. NLRP5/intron/ 0.0000 0.8078 0.9630 4 Oocyte/zygote/embryo maturation arrest 19 dominant HG002 HG002 chr19:56001437:C:G 1,.,. -1 -1 -1 -1 -1 -1 NLRP5 50_intron 25,.,. 0.6,.,. NLRP5/intron/ 0.0000 0.8078 0.9630 4 Oocyte/zygote/embryo maturation arrest 19 dominant HG002 HG002 chr19:56001438:TCTCCTAATTACTTGAA:T 1,.,. -1 -1 -1 -1 -1 -1 NLRP5 50_intron 25,.,. 0.6,.,. NLRP5/intron/ 0.0000 0.8078 0.9630 4 Oocyte/zygote/embryo maturation arrest 19 recessive HG002 HG002 chr19:56048534:A:AGCT 2,.,. -1 -1 -1 -1 -1 -1 NLRP5 50_intron 34,.,. 1,.,. NLRP5/intron/ 0.0000 0.8078 0.9630 4 Oocyte/zygote/embryo maturation arrest 19 recessive HG002 HG002 chr19:56048535:C:G 2,.,. -1 -1 -1 -1 -1 -1 NLRP5 50_intron 34,.,. 1,.,. NLRP5/intron/ 0.0000 0.8078 0.9630 4 Oocyte/zygote/embryo maturation arrest 19 recessive HG002 HG002 chr19:56048538:A:G 2,.,. -1 -1 -1 -1 -1 -1 NLRP5 50_intron 34,.,. 1,.,. NLRP5/intron/ 0.0000 0.8078 0.9630 4 Oocyte/zygote/embryo maturation arrest 19 recessive HG002 HG002 chr19:56048539:C:A 2,.,. -1 -1 -1 -1 -1 -1 NLRP5 50_intron 34,.,. 1,.,. NLRP5/intron/ 0.0000 0.8078 0.9630 4 Oocyte/zygote/embryo maturation arrest 19 recessive HG002 HG002 chr19:56048540:A:T 2,.,. 6.59822e-06 0 1 -1 -1 -1 NLRP5 50_intron 34,.,. 1,.,. NLRP5/intron/ 0.0000 0.8078 0.9630 4 Oocyte/zygote/embryo maturation arrest 19 recessive HG002 HG002 chr19:56080016:ATGACCACAGCGGTGTGTCCTGGTCACTGGGAGCGGCTGGGCTCGAGGGGCTTGTGTCCAACAGTGCTGATGACCACAGCGGTGTGTCCTGGTCACTGGGAGCGGCTGGGCTCGAGGGGCTGGTGTCCAACAGTGC:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chr19:56337360:G:A 1,.,. 1.31372e-05 0 2 -1 -1 -1 ZSCAN5A 50_intron 35,.,. 0.571429,.,. ZSCAN5A/intron/ 0.0207 0.5173 0.8380 3 dominant HG002 HG002 chr19:56549120:C:T 1,.,. 2.62978e-05 0 4 -1 -1 -1 ZFP28 14_missense 40,.,. 0.575,.,. ZFP28/splice_region/ENST00000301318;ZFP28/missense/ENST00000301318;ZFP28/splice_region/ENST00000591844;ZFP28/missense/ENST00000591844 0.0000 0.7821 1.0560 5 recessive HG002 HG002 chr19:56735770:A:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr19:56745540:C:T 1,.,. -1 -1 -1 0.00140154 0 4 28,.,. 0.392857,.,. dominant HG002 HG002 chr19:56939345:C:T 1,.,. 6.58753e-06 0 1 -1 -1 -1 24,.,. 0.458333,.,. dominant HG002 HG002 chr19:57001032:C:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr19:57001033:G:GAGAA 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.4,.,. dominant HG002 HG002 chr19:57001035:A:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr19:57001036:T:G 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.411765,.,. dominant HG002 HG002 chr19:57086964:G:GATATGT 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.368421,.,. dominant HG002 HG002 chr19:57169454:A:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.466667,.,. dominant HG002 HG002 chr19:57200561:T:TTGTGTCTTG 1,.,. -1 -1 -1 -1 -1 -1 ZNF264 50_intron 32,.,. 0.34375,.,. ZNF264/intron/ 0.0000 1.1508 1.7730 8 dominant HG002 HG002 chr19:57326863:GCCCGC:G 1,.,. 1.75568e-05 0 2 -1 -1 -1 ZNF543 50_intron 37,.,. 0.567568,.,. ZNF543/intron/ 0.0012 0.7748 1.3130 7 dominant HG002 HG002 chr19:57326875:C:T 1,.,. 3.88712e-05 0 1 -1 -1 -1 ZNF543 50_intron 37,.,. 0.567568,.,. ZNF543/intron/ 0.0012 0.7748 1.3130 7 dominant HG002 HG002 chr19:57453198:C:CTTCTT 1,.,. -1 -1 -1 -1 -1 -1 AC004076.1 50_intron 46,.,. 0.586957,.,. AC004076.1/intron/ dominant HG002 HG002 chr19:57690457:GTGTATA:G 1,.,. -1 -1 -1 -1 -1 -1 ZNF551 36_3_prime_utr 39,.,. 0.512821,.,. ZNF551/3_prime_utr/ENST00000282296 0.0524 0.6147 1.2880 7 dominant HG002 HG002 chr19:57813974:C:CCTCAGGTGAT 1,.,. -1 -1 -1 -1 -1 -1 ZNF586;ZNF552 50_intron 31,.,. 0.612903,.,. ZNF586/intron/;ZNF552/intron/;ZNF552/non_coding/ 0.0007;;0.3660 1.1090;;0.3845 1.8080;;0.9930 9;;5 dominant HG002 HG002 chr19:57813976:A:C 1,.,. 6.60362e-06 0 1 -1 -1 -1 ZNF586;ZNF552 50_intron 32,.,. 0.625,.,. ZNF586/intron/;ZNF552/intron/;ZNF552/non_coding/ 0.0007;;0.3660 1.1090;;0.3845 1.8080;;0.9930 9;;5 dominant HG002 HG002 chr19:57813977:A:G 1,.,. -1 -1 -1 -1 -1 -1 ZNF586;ZNF552 50_intron 32,.,. 0.625,.,. ZNF586/intron/;ZNF552/intron/;ZNF552/non_coding/ 0.0007;;0.3660 1.1090;;0.3845 1.8080;;0.9930 9;;5 dominant HG002 HG002 chr19:58079161:GGAAAA:G 1,.,. -1 -1 -1 -1 -1 -1 ZNF135 50_intron 36,.,. 0.416667,.,. ZNF135/intron/ 0.0002 0.9266 1.5240 8 dominant HG002 HG002 chr19:58079168:G:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF135 50_intron 36,.,. 0.416667,.,. ZNF135/intron/ 0.0002 0.9266 1.5240 8 dominant HG002 HG002 chr19:58176151:C:A 1,.,. 2.8547e-05 0 3 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr19:58195532:CAGTGG:C 1,.,. -1 -1 -1 -1 -1 -1 ZNF274 50_intron 37,.,. 0.459459,.,. ZNF274/intron/;ZNF274/non_coding/ 0.0000 0.6601 0.9000 4 dominant HG002 HG002 chr19:58195538:C:T 1,.,. -1 -1 -1 -1 -1 -1 ZNF274 50_intron 36,.,. 0.472222,.,. ZNF274/intron/;ZNF274/non_coding/ 0.0000 0.6601 0.9000 4 dominant HG002 HG002 chr19:58237018:G:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF544;AC020915.4 50_intron 22,.,. 0.590909,.,. ZNF544/intron/;AC020915.4/intron/;ZNF544/non_coding/ 0.0027 0.6950 1.1790 6 dominant HG002 HG002 chr19:58404241:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 ZNF584 53_non_coding 18,.,. 0.5,.,. ZNF584/non_coding/ 0.0001 0.8879 1.4350 7 dominant HG002 HG002 chr19:58502652:A:AAGATGGATGGGTGAACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGCTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGAACAGTTAGAGTAGTGAGTGAGT 1,.,. -1 -1 -1 -1 -1 -1 SLC27A5 50_intron 25,.,. 0.36,.,. SLC27A5/intron/;SLC27A5/non_coding/ 0.0000 0.8294 1.0520 5 recessive HG002 HG002 chr19:58502938:T:G 2,.,. 0.0299145 0 7 0.00105116 0 3 SLC27A5 50_intron 28,.,. 1,.,. SLC27A5/intron/;SLC27A5/non_coding/ 0.0000 0.8294 1.0520 5 recessive HG002 HG002 chr19:58502940:G:C 2,.,. 7.2439e-05 0 11 -1 -1 -1 SLC27A5 50_intron 28,.,. 1,.,. SLC27A5/intron/;SLC27A5/non_coding/ 0.0000 0.8294 1.0520 5 recessive HG002 HG002 chr19:58523619:CAG:C 2,.,. -1 -1 -1 -1 -1 -1 ZBTB45 50_intron 24,.,. 1,.,. ZBTB45/intron/ 0.0019 0.6009 0.9390 4 recessive HG002 HG002 chr19:58523622:C:G 2,.,. -1 -1 -1 -1 -1 -1 ZBTB45 50_intron 24,.,. 1,.,. ZBTB45/intron/ 0.0019 0.6009 0.9390 4 dominant HG002 HG002 chr19:58586653:A:T 1,.,. -1 -1 -1 -1 -1 -1 CENPBD1P1 53_non_coding 37,.,. 0.405405,.,. CENPBD1P1/non_coding/ dominant HG002 HG002 chr19:58586657:T:G 1,.,. -1 -1 -1 -1 -1 -1 CENPBD1P1 53_non_coding 35,.,. 0.428571,.,. CENPBD1P1/non_coding/ dominant HG002 HG002 chr20:485139:A:T 1,.,. -1 -1 -1 0.000700771 0 2 CSNK2A1 50_intron 32,.,. 0.5,.,. CSNK2A1/intron/;CSNK2A1/non_coding/ 1.0000 0.1516 0.2740 0 Okur-Chung neurodevelopmental syndrome 0.000 recessive HG002 HG002 chr20:646133:T:TCTA 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr20:646134:T:A 2,.,. 6.61323e-06 0 1 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chr20:816723:TTGTGCG:T 1,.,. 2.94317e-05 0 2 0.000700771 0 2 12,.,. 0.333333,.,. dominant HG002 HG002 chr20:1577773:A:G 1,.,. -1 -1 -1 -1 -1 -1 AL049634.2 50_intron 18,.,. 0.444444,.,. AL049634.2/intron/ dominant HG002 HG002 chr20:1914820:T:TATAG 1,.,. -1 -1 -1 -1 -1 -1 SIRPA 50_intron 29,.,. 0.482759,.,. SIRPA/intron/ 1.0000 0.1652 0.3100 0 dominant HG002 HG002 chr20:1914822:G:A 1,.,. -1 -1 -1 -1 -1 -1 SIRPA 50_intron 30,.,. 0.5,.,. SIRPA/intron/ 1.0000 0.1652 0.3100 0 dominant HG002 HG002 chr20:2202238:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr20:2317942:T:A 1,.,. 2.33634e-05 0 3 -1 -1 -1 AL121899.2;TGM3 50_intron 34,.,. 0.352941,.,. AL121899.2/intron/;TGM3/non_coding/ 0.0000 0.7104 0.8950 4 Uncombable hair syndrome 2 0.000 dominant HG002 HG002 chr20:2425444:AACT:A 1,.,. -1 -1 -1 -1 -1 -1 TGM6 50_intron 29,.,. 0.517241,.,. TGM6/intron/ 0.0000 0.9346 1.1340 6 Spinocerebellar ataxia type 35 0.000 dominant HG002 HG002 chr20:2425448:T:C 1,.,. -1 -1 -1 -1 -1 -1 TGM6 50_intron 29,.,. 0.517241,.,. TGM6/intron/ 0.0000 0.9346 1.1340 6 Spinocerebellar ataxia type 35 0.000 dominant HG002 HG002 chr20:2428967:G:GCA 1,.,. -1 -1 -1 -1 -1 -1 TGM6 50_intron 30,.,. 0.466667,.,. TGM6/intron/ 0.0000 0.9346 1.1340 6 Spinocerebellar ataxia type 35 0.000 dominant HG002 HG002 chr20:2428972:A:T 1,.,. 6.59552e-06 0 1 -1 -1 -1 TGM6 50_intron 31,.,. 0.483871,.,. TGM6/intron/ 0.0000 0.9346 1.1340 6 Spinocerebellar ataxia type 35 0.000 recessive HG002 HG002 chr20:2636768:C:T 2,.,. 0.000482393 0 16 0.000700771 0 2 TMC2 50_intron 40,.,. 1,.,. TMC2/intron/ 0.0000 0.9590 1.1510 6 recessive HG002 HG002 chr20:2992678:A:AGGGTTTT 2,.,. -1 -1 -1 -1 -1 -1 PTPRA 50_intron 24,.,. 1,.,. PTPRA/intron/ 1.0000 0.1756 0.2600 0 recessive HG002 HG002 chr20:2992680:T:C 2,.,. -1 -1 -1 -1 -1 -1 PTPRA 50_intron 27,.,. 1,.,. PTPRA/intron/ 1.0000 0.1756 0.2600 0 recessive HG002 HG002 chr20:3057298:C:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr20:3661574:TTC:T 2,.,. -1 -1 -1 -1 -1 -1 GFRA4 50_intron 38,.,. 1,.,. GFRA4/intron/ 0.0000 1.9735 1.9780 9 recessive HG002 HG002 chr20:3661577:T:C 2,.,. -1 -1 -1 -1 -1 -1 GFRA4 50_intron 38,.,. 1,.,. GFRA4/intron/ 0.0000 1.9735 1.9780 9 dominant HG002 HG002 chr20:3734356:A:C 1,.,. 6.57203e-06 0 1 -1 -1 -1 HSPA12B 50_intron 24,.,. 0.458333,.,. HSPA12B/intron/ 0.0000 0.8899 1.1160 6 dominant HG002 HG002 chr20:3795374:AAAC:A 1,.,. -1 -1 -1 -1 -1 -1 CDC25B 50_intron 24,.,. 0.416667,.,. CDC25B/intron/ 0.0021 0.4751 0.6410 2 recessive HG002 HG002 chr20:3809439:A:AAAT 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr20:3809441:T:C 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr20:3809442:C:A 2,.,. 7.71034e-06 0 1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr20:3913993:G:A 1,.,. -1 -1 -1 -1 -1 -1 PANK2 50_intron 28,.,. 0.678571,.,. PANK2/intron/;PANK2/non_coding/ 0.0000 0.8445 1.1150 6 Pigmentary pallidal degeneration 0.000 recessive HG002 HG002 chr20:4005160:AGGTTACTTCTTT:A 2,.,. -1 -1 -1 -1 -1 -1 RNF24 50_intron 32,.,. 1,.,. RNF24/intron/ 0.0043 0.7003 1.2220 6 recessive HG002 HG002 chr20:4005174:A:T 2,.,. -1 -1 -1 -1 -1 -1 RNF24 50_intron 32,.,. 1,.,. RNF24/intron/ 0.0043 0.7003 1.2220 6 dominant HG002 HG002 chr20:4051388:CGAAAAGAA:C 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.521739,.,. dominant HG002 HG002 chr20:4051398:G:A 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.521739,.,. dominant HG002 HG002 chr20:4088020:AAAGAAAAAG:A 1,.,. 1.67712e-05 0 1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr20:4088031:A:G 1,.,. 4.85437e-05 0 2 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr20:4133534:TCAGAAA:T 1,.,. -1 -1 -1 -1 -1 -1 SMOX 53_non_coding 26,.,. 0.5,.,. SMOX/non_coding/ 0.0648 0.4445 0.6520 2 dominant HG002 HG002 chr20:4133541:C:G 1,.,. -1 -1 -1 -1 -1 -1 SMOX 53_non_coding 26,.,. 0.5,.,. SMOX/non_coding/ 0.0648 0.4445 0.6520 2 dominant HG002 HG002 chr20:4400620:T:TGTGTATTGTGG 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.591837,.,. dominant HG002 HG002 chr20:4400621:T:A 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.568627,.,. dominant HG002 HG002 chr20:4709276:C:T 1,.,. 1.34401e-05 0 2 -1 -1 -1 45,.,. 0.511111,.,. dominant HG002 HG002 chr20:4797564:C:A 1,.,. -1 -1 -1 -1 -1 -1 RASSF2 50_intron 34,.,. 0.441176,.,. RASSF2/intron/ 0.0000 0.7444 0.9910 5 dominant HG002 HG002 chr20:4797565:ACTATCAGTGGGGACT:A 1,.,. -1 -1 -1 -1 -1 -1 RASSF2 50_intron 34,.,. 0.441176,.,. RASSF2/intron/ 0.0000 0.7444 0.9910 5 dominant HG002 HG002 chr20:4797581:C:G 1,.,. -1 -1 -1 -1 -1 -1 RASSF2 50_intron 34,.,. 0.441176,.,. RASSF2/intron/ 0.0000 0.7444 0.9910 5 dominant HG002 HG002 chr20:4989624:C:CTTAATAT 1,.,. -1 -1 -1 -1 -1 -1 SLC23A2 50_intron 24,.,. 0.416667,.,. SLC23A2/intron/;SLC23A2/non_coding/ 0.0040 0.5003 0.7200 2 dominant HG002 HG002 chr20:4989626:T:G 1,.,. -1 -1 -1 -1 -1 -1 SLC23A2 50_intron 24,.,. 0.416667,.,. SLC23A2/intron/;SLC23A2/non_coding/ 0.0040 0.5003 0.7200 2 dominant HG002 HG002 chr20:4989627:G:T 1,.,. -1 -1 -1 -1 -1 -1 SLC23A2 50_intron 24,.,. 0.416667,.,. SLC23A2/intron/;SLC23A2/non_coding/ 0.0040 0.5003 0.7200 2 dominant HG002 HG002 chr20:5038413:A:T 1,.,. 1.95236e-05 0 1 -1 -1 -1 32,.,. 0.40625,.,. dominant HG002 HG002 chr20:5053069:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.378378,.,. dominant HG002 HG002 chr20:5748050:C:CAATA 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.541667,.,. recessive HG002 HG002 chr20:6316690:T:TGTTCAAGA 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr20:6316691:T:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr20:6724941:T:TTTG 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.365854,.,. recessive HG002 HG002 chr20:7194495:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr20:7194496:T:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr20:7194497:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr20:7194498:A:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr20:7376056:G:T 2,.,. 0.00184249 0 51 0.0259285 2 74 41,.,. 1,.,. recessive HG002 HG002 chr20:7376061:TTTAAAAAAA:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. dominant HG002 HG002 chr20:7382842:C:A 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.480769,.,. dominant HG002 HG002 chr20:7664855:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.613636,.,. dominant HG002 HG002 chr20:8146655:T:C 1,.,. -1 -1 -1 -1 -1 -1 PLCB1 50_intron 47,.,. 0.531915,.,. PLCB1/intron/;PLCB1/non_coding/ 1.0000 0.2498 0.3570 0 Developmental and epileptic encephalopathy, 12 0.000 dominant HG002 HG002 chr20:8409436:A:ATAT 1,.,. -1 -1 -1 -1 -1 -1 PLCB1 50_intron 49,.,. 0.428571,.,. PLCB1/intron/;PLCB1/non_coding/ 1.0000 0.2498 0.3570 0 Developmental and epileptic encephalopathy, 12 0.000 dominant HG002 HG002 chr20:8638880:C:CACTCAGGA 1,.,. -1 -1 -1 -1 -1 -1 PLCB1 50_intron 34,.,. 0.382353,.,. PLCB1/intron/;PLCB1/non_coding/ 1.0000 0.2498 0.3570 0 Developmental and epileptic encephalopathy, 12 0.000 dominant HG002 HG002 chr20:8638881:T:C 1,.,. -1 -1 -1 -1 -1 -1 PLCB1 50_intron 34,.,. 0.382353,.,. PLCB1/intron/;PLCB1/non_coding/ 1.0000 0.2498 0.3570 0 Developmental and epileptic encephalopathy, 12 0.000 dominant HG002 HG002 chr20:8645313:A:AAT 1,.,. 2.9436e-05 0 2 -1 -1 -1 PLCB1 50_intron 38,.,. 0.315789,.,. PLCB1/intron/;PLCB1/non_coding/ 1.0000 0.2498 0.3570 0 Developmental and epileptic encephalopathy, 12 0.000 dominant HG002 HG002 chr20:8662091:A:AATATATAATTATAT 1,.,. -1 -1 -1 -1 -1 -1 PLCB1 50_intron 45,.,. 0.311111,.,. PLCB1/intron/;PLCB1/non_coding/ 1.0000 0.2498 0.3570 0 Developmental and epileptic encephalopathy, 12 0.000 dominant HG002 HG002 chr20:8662096:T:A 1,.,. -1 -1 -1 -1 -1 -1 PLCB1 50_intron 45,.,. 0.311111,.,. PLCB1/intron/;PLCB1/non_coding/ 1.0000 0.2498 0.3570 0 Developmental and epileptic encephalopathy, 12 0.000 dominant HG002 HG002 chr20:8929022:C:A 1,.,. -1 -1 -1 -1 -1 -1 PLCB1 50_intron 37,.,. 0.621622,.,. PLCB1/intron/ 1.0000 0.2498 0.3570 0 Developmental and epileptic encephalopathy, 12 0.000 recessive HG002 HG002 chr20:8939634:C:CAGA 2,.,. 5.73987e-05 0 1 -1 -1 -1 PLCB1 50_intron 44,.,. 1,.,. PLCB1/intron/ 1.0000 0.2498 0.3570 0 Developmental and epileptic encephalopathy, 12 0.000 recessive HG002 HG002 chr20:8939637:G:A 2,.,. 1.31999e-05 0 2 -1 -1 -1 PLCB1 50_intron 44,.,. 1,.,. PLCB1/intron/ 1.0000 0.2498 0.3570 0 Developmental and epileptic encephalopathy, 12 0.000 dominant HG002 HG002 chr20:9606360:C:T 1,.,. -1 -1 -1 -1 -1 -1 PAK5 50_intron 34,.,. 0.5,.,. PAK5/intron/ 1.0000 0.2069 0.3290 0 dominant HG002 HG002 chr20:10451076:T:TAAATA 1,.,. -1 -1 -1 -1 -1 -1 SLX4IP 50_intron 36,.,. 0.361111,.,. SLX4IP/intron/ 0.0000 0.8483 1.1290 6 dominant HG002 HG002 chr20:10451077:T:A 1,.,. -1 -1 -1 -1 -1 -1 SLX4IP 50_intron 36,.,. 0.361111,.,. SLX4IP/intron/ 0.0000 0.8483 1.1290 6 dominant HG002 HG002 chr20:11132316:A:G 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.4,.,. dominant HG002 HG002 chr20:11134213:A:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.44898,.,. dominant HG002 HG002 chr20:11142983:A:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.509804,.,. dominant HG002 HG002 chr20:11143024:A:C 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.52,.,. dominant HG002 HG002 chr20:11156729:A:C 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.446809,.,. dominant HG002 HG002 chr20:11179079:A:G 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.351852,.,. dominant HG002 HG002 chr20:11179241:G:A 1,.,. 6.57471e-06 0 1 -1 -1 -1 55,.,. 0.345455,.,. recessive HG002 HG002 chr20:11406017:ATTTCT:A 2,.,. 0.000177999 0 27 0.000700771 0 2 44,.,. 1,.,. recessive HG002 HG002 chr20:11406023:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr20:11509736:G:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr20:11581888:C:T 1,.,. 2.62978e-05 0 4 -1 -1 -1 40,.,. 0.55,.,. dominant HG002 HG002 chr20:11860952:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr20:12307954:G:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.425,.,. dominant HG002 HG002 chr20:12354458:T:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr20:12382158:G:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.395833,.,. dominant HG002 HG002 chr20:12382162:C:A 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.422222,.,. dominant HG002 HG002 chr20:12788964:A:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.325,.,. dominant HG002 HG002 chr20:12812745:C:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.390244,.,. dominant HG002 HG002 chr20:12860084:A:ATTC 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr20:12860085:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr20:13265534:A:T 1,.,. -1 -1 -1 -1 -1 -1 ISM1 50_intron 37,.,. 0.594595,.,. ISM1/intron/ 0.0000 0.5847 0.8170 3 dominant HG002 HG002 chr20:13338713:G:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.47619,.,. dominant HG002 HG002 chr20:13646163:G:A 1,.,. 1.97322e-05 0 3 -1 -1 -1 38,.,. 0.526316,.,. recessive HG002 HG002 chr20:14085068:G:C 2,.,. -1 -1 -1 -1 -1 -1 MACROD2 50_intron 35,.,. 1,.,. MACROD2/intron/;MACROD2/non_coding/ 0.0016 0.5113 0.7240 2 recessive HG002 HG002 chr20:14085069:C:A 2,.,. -1 -1 -1 -1 -1 -1 MACROD2 50_intron 35,.,. 1,.,. MACROD2/intron/;MACROD2/non_coding/ 0.0016 0.5113 0.7240 2 recessive HG002 HG002 chr20:14085070:A:G 2,.,. -1 -1 -1 -1 -1 -1 MACROD2 50_intron 35,.,. 1,.,. MACROD2/intron/;MACROD2/non_coding/ 0.0016 0.5113 0.7240 2 dominant HG002 HG002 chr20:14700529:G:T 1,.,. 2.05956e-05 0 2 -1 -1 -1 MACROD2 50_intron 40,.,. 0.6,.,. MACROD2/intron/;MACROD2/non_coding/ 0.0016 0.5113 0.7240 2 dominant HG002 HG002 chr20:14792383:G:A 1,.,. -1 -1 -1 -1 -1 -1 MACROD2 50_intron 45,.,. 0.488889,.,. MACROD2/intron/;MACROD2/non_coding/ 0.0016 0.5113 0.7240 2 dominant HG002 HG002 chr20:15021262:C:A 1,.,. -1 -1 -1 -1 -1 -1 MACROD2 50_intron 43,.,. 0.44186,.,. MACROD2/intron/ 0.0016 0.5113 0.7240 2 dominant HG002 HG002 chr20:15021266:G:GTGCGTATACGCACACCTGTGTGTATGTATACACACACGTGTGTGTATACGCACACC 1,.,. -1 -1 -1 -1 -1 -1 MACROD2 50_intron 43,.,. 0.44186,.,. MACROD2/intron/ 0.0016 0.5113 0.7240 2 dominant HG002 HG002 chr20:15378149:A:G 1,.,. 9.8955e-06 0 1 -1 -1 -1 MACROD2 50_intron 47,.,. 0.489362,.,. MACROD2/intron/ 0.0016 0.5113 0.7240 2 dominant HG002 HG002 chr20:15378150:AAAGAAG:A 1,.,. -1 -1 -1 -1 -1 -1 MACROD2 50_intron 47,.,. 0.489362,.,. MACROD2/intron/ 0.0016 0.5113 0.7240 2 dominant HG002 HG002 chr20:15677701:AACC:A 1,.,. -1 -1 -1 -1 -1 -1 MACROD2 50_intron 53,.,. 0.603774,.,. MACROD2/intron/ 0.0016 0.5113 0.7240 2 dominant HG002 HG002 chr20:15865479:T:TA 1,.,. -1 -1 -1 -1 -1 -1 MACROD2 50_intron 47,.,. 0.659574,.,. MACROD2/intron/ 0.0016 0.5113 0.7240 2 dominant HG002 HG002 chr20:15963234:CAG:C 1,.,. -1 -1 -1 -1 -1 -1 MACROD2 50_intron 37,.,. 0.567568,.,. MACROD2/intron/;MACROD2/non_coding/ 0.0016 0.5113 0.7240 2 dominant HG002 HG002 chr20:15963238:G:A 1,.,. -1 -1 -1 -1 -1 -1 MACROD2 50_intron 36,.,. 0.583333,.,. MACROD2/intron/;MACROD2/non_coding/ 0.0016 0.5113 0.7240 2 recessive HG002 HG002 chr20:15984117:TTTTTTAAC:T 2,.,. 1.15354e-05 0 1 -1 -1 -1 MACROD2 50_intron 35,.,. 1,.,. MACROD2/intron/;MACROD2/non_coding/ 0.0016 0.5113 0.7240 2 recessive HG002 HG002 chr20:15984130:T:A 2,.,. -1 -1 -1 -1 -1 -1 MACROD2 50_intron 37,.,. 1,.,. MACROD2/intron/;MACROD2/non_coding/ 0.0016 0.5113 0.7240 2 dominant HG002 HG002 chr20:15992055:G:C 1,.,. 6.57644e-06 0 1 -1 -1 -1 MACROD2 50_intron 44,.,. 0.477273,.,. MACROD2/intron/;MACROD2/non_coding/ 0.0016 0.5113 0.7240 2 dominant HG002 HG002 chr20:16547620:T:A 1,.,. -1 -1 -1 -1 -1 -1 KIF16B 50_intron 32,.,. 0.59375,.,. KIF16B/intron/ 0.0000 0.6392 0.7860 3 dominant HG002 HG002 chr20:16730717:C:T 1,.,. -1 -1 -1 -1 -1 -1 SNRPB2 50_intron 50,.,. 0.5,.,. SNRPB2/intron/;SNRPB2/non_coding/ 0.1742 0.4681 0.9840 5 dominant HG002 HG002 chr20:16786924:A:G 1,.,. 6.57869e-06 0 1 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr20:17268031:G:GTATATATATATA 1,.,. -1 -1 -1 -1 -1 -1 PCSK2 50_intron 46,.,. 0.456522,.,. PCSK2/intron/;PCSK2/non_coding/ 1.0000 0.1263 0.2490 0 dominant HG002 HG002 chr20:17335195:G:A 1,.,. -1 -1 -1 -1 -1 -1 PCSK2 50_intron 37,.,. 0.540541,.,. PCSK2/intron/;PCSK2/non_coding/ 1.0000 0.1263 0.2490 0 dominant HG002 HG002 chr20:17448827:C:A 1,.,. -1 -1 -1 -1 -1 -1 PCSK2 50_intron 24,.,. 0.375,.,. PCSK2/intron/ 1.0000 0.1263 0.2490 0 dominant HG002 HG002 chr20:18025034:TGC:T 1,.,. -1 -1 -1 -1 -1 -1 OVOL2 50_intron 25,.,. 0.36,.,. OVOL2/non_coding/;OVOL2/intron/ 0.0002 0.7662 1.2180 6 Posterior polymorphous corneal dystrophy 1 0.000 dominant HG002 HG002 chr20:18025038:A:C 1,.,. -1 -1 -1 -1 -1 -1 OVOL2 50_intron 25,.,. 0.36,.,. OVOL2/non_coding/;OVOL2/intron/ 0.0002 0.7662 1.2180 6 Posterior polymorphous corneal dystrophy 1 0.000 dominant HG002 HG002 chr20:18320368:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr20:18487989:C:A 1,.,. -1 -1 -1 -1 -1 -1 RBBP9 36_3_prime_utr 45,.,. 0.466667,.,. RBBP9/3_prime_utr/ENST00000337227 0.0000 0.9142 1.3280 7 dominant HG002 HG002 chr20:18487996:C:G 1,.,. -1 -1 -1 -1 -1 -1 RBBP9 36_3_prime_utr 46,.,. 0.478261,.,. RBBP9/3_prime_utr/ENST00000337227 0.0000 0.9142 1.3280 7 dominant HG002 HG002 chr20:18953591:A:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.645833,.,. dominant HG002 HG002 chr20:18977061:TTTCAAA:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr20:18977068:T:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr20:19132282:ATATT:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.282609,.,. dominant HG002 HG002 chr20:19351589:T:C 1,.,. -1 -1 -1 -1 -1 -1 SLC24A3 50_intron 47,.,. 0.361702,.,. SLC24A3/intron/ 0.9998 0.2950 0.4290 1 recessive HG002 HG002 chr20:19415838:T:C 2,.,. -1 -1 -1 -1 -1 -1 SLC24A3 50_intron 50,.,. 1,.,. SLC24A3/intron/ 0.9998 0.2950 0.4290 1 recessive HG002 HG002 chr20:19415839:T:A 2,.,. -1 -1 -1 -1 -1 -1 SLC24A3 50_intron 50,.,. 1,.,. SLC24A3/intron/ 0.9998 0.2950 0.4290 1 recessive HG002 HG002 chr20:19415842:TGTCTTAAATTA:T 2,.,. -1 -1 -1 -1 -1 -1 SLC24A3 50_intron 50,.,. 1,.,. SLC24A3/intron/ 0.9998 0.2950 0.4290 1 dominant HG002 HG002 chr20:19911741:G:GTTTA 1,.,. -1 -1 -1 -1 -1 -1 RIN2 50_intron 25,.,. 0.52,.,. RIN2/intron/;RIN2/non_coding/ 0.0013 0.4763 0.6370 2 RIN2 syndrome 0.000 dominant HG002 HG002 chr20:19911743:A:C 1,.,. -1 -1 -1 -1 -1 -1 RIN2 50_intron 26,.,. 0.5,.,. RIN2/intron/;RIN2/non_coding/ 0.0013 0.4763 0.6370 2 RIN2 syndrome 0.000 dominant HG002 HG002 chr20:19954712:T:C 1,.,. -1 -1 -1 -1 -1 -1 RIN2 50_intron 34,.,. 0.588235,.,. RIN2/intron/;RIN2/non_coding/ 0.0013 0.4763 0.6370 2 RIN2 syndrome 0.000 dominant HG002 HG002 chr20:20000287:GAATAAACCCAGC:G 1,.,. -1 -1 -1 -1 -1 -1 RIN2 50_intron 43,.,. 0.55814,.,. RIN2/intron/;RIN2/non_coding/ 0.0013 0.4763 0.6370 2 RIN2 syndrome 0.000 dominant HG002 HG002 chr20:20000300:A:T 1,.,. -1 -1 -1 -1 -1 -1 RIN2 50_intron 42,.,. 0.571429,.,. RIN2/intron/;RIN2/non_coding/ 0.0013 0.4763 0.6370 2 RIN2 syndrome 0.000 dominant HG002 HG002 chr20:20275031:C:CCAAAGCAA 1,.,. -1 -1 -1 -1 -1 -1 CFAP61 50_intron 37,.,. 0.297297,.,. CFAP61/intron/;CFAP61/non_coding/ 0.0000 0.7468 0.8920 4 Spermatogenic failure 84 dominant HG002 HG002 chr20:20275032:A:G 1,.,. -1 -1 -1 -1 -1 -1 CFAP61 50_intron 37,.,. 0.324324,.,. CFAP61/intron/;CFAP61/non_coding/ 0.0000 0.7468 0.8920 4 Spermatogenic failure 84 recessive HG002 HG002 chr20:21238336:A:T 2,.,. 0.0179843 1 677 0.00350385 1 10 KIZ 50_intron 41,.,. 1,.,. KIZ/intron/;KIZ/non_coding/ 0.0000 0.9049 1.2270 6 Retinitis pigmentosa 69 0.000 recessive HG002 HG002 chr20:21262339:C:T 2,.,. -1 -1 -1 0.00105116 0 3 24,.,. 1,.,. recessive HG002 HG002 chr20:21577851:GACTGCAAAC:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr20:21577861:A:C 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr20:21788458:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr20:22082759:A:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.5,.,. dominant HG002 HG002 chr20:22780342:C:T 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. recessive HG002 HG002 chr20:23122970:A:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr20:23561135:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. recessive HG002 HG002 chr20:23654424:C:CGGCCA 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr20:23654425:A:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr20:24152725:C:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.464286,.,. dominant HG002 HG002 chr20:24872941:T:C 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.609756,.,. dominant HG002 HG002 chr20:25475629:TGTGA:T 1,.,. -1 -1 -1 -1 -1 -1 NINL 50_intron 39,.,. 0.564103,.,. NINL/intron/ 0.0000 0.9655 1.1090 6 dominant HG002 HG002 chr20:25475634:G:T 1,.,. -1 -1 -1 -1 -1 -1 NINL 50_intron 39,.,. 0.564103,.,. NINL/intron/ 0.0000 0.9655 1.1090 6 dominant HG002 HG002 chr20:25534130:C:T 1,.,. 1.97127e-05 0 3 -1 -1 -1 NINL 50_intron 38,.,. 0.605263,.,. NINL/intron/ 0.0000 0.9655 1.1090 6 recessive HG002 HG002 chr20:25611230:A:T 2,.,. -1 -1 -1 0.0049054 0 14 28,.,. 1,.,. dominant HG002 HG002 chr20:25649695:T:TCTA 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr20:25649696:T:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr20:25885051:A:AAGTAG 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr20:25885059:A:C 1,.,. 7.06275e-06 0 1 -1 -1 -1 39,.,. 0.461538,.,. dominant HG002 HG002 chr20:25911303:A:T 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.578947,.,. dominant HG002 HG002 chr20:26143521:T:C 1,.,. 6.58103e-06 0 1 -1 -1 -1 41,.,. 0.439024,.,. recessive HG002 HG002 chr20:26264603:G:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr20:26264604:C:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr20:26448106:A:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr20:26448155:A:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr20:26482472:A:C 2,.,. -1 -1 -1 0.00140154 2 4 22,.,. 1,.,. recessive HG002 HG002 chr20:26486208:C:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr20:26491631:G:T 2,.,. -1 -1 -1 -1 -1 -1 178,.,. 0.994382,.,. recessive HG002 HG002 chr20:26524756:C:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chr20:26537934:C:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr20:26539293:C:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr20:26704193:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr20:26894612:C:CCT 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr20:26955243:A:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr20:26955252:G:T 2,.,. -1 -1 -1 0.00140154 2 4 38,.,. 1,.,. recessive HG002 HG002 chr20:26955281:A:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr20:26955294:G:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr20:28053663:C:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr20:28514549:T:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr20:28514612:A:C 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr20:28590279:C:A 1,.,. -1 -1 -1 0.000700771 0 2 FRG1CP 53_non_coding 32,.,. 0.3125,.,. FRG1CP/non_coding/ dominant HG002 HG002 chr20:28615762:AGTT:A 1,.,. -1 -1 -1 -1 -1 -1 133,.,. 0.609023,.,. dominant HG002 HG002 chr20:28615769:A:T 1,.,. -1 -1 -1 -1 -1 -1 131,.,. 0.618321,.,. dominant HG002 HG002 chr20:28620227:CGGCCTTCAGTTGGT:C 1,.,. -1 -1 -1 -1 -1 -1 130,.,. 0.653846,.,. dominant HG002 HG002 chr20:28620242:G:A 1,.,. -1 -1 -1 -1 -1 -1 128,.,. 0.664062,.,. dominant HG002 HG002 chr20:28757476:T:A 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.409091,.,. dominant HG002 HG002 chr20:28884699:T:C 1,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.5,.,. dominant HG002 HG002 chr20:28910931:G:A 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.304348,.,. dominant HG002 HG002 chr20:29015221:C:G 1,.,. -1 -1 -1 0.00105116 0 3 36,.,. 0.416667,.,. dominant HG002 HG002 chr20:29045040:C:T 1,.,. -1 -1 -1 0.000700771 0 2 22,.,. 0.409091,.,. recessive HG002 HG002 chr20:29142955:G:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chr20:29143158:C:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr20:29143419:G:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr20:29149019:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr20:29154880:A:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr20:29155816:A:C 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr20:29156247:C:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr20:29156293:G:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr20:29157455:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr20:29159612:C:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr20:29160268:A:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr20:29161597:C:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr20:29162506:G:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr20:29162889:C:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr20:29166987:A:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr20:29167110:G:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr20:29167239:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr20:29167547:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr20:29167558:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr20:29167588:C:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chr20:29167600:A:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr20:29167608:T:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chr20:29167701:G:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr20:29167989:T:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr20:29168069:T:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr20:29168126:C:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr20:29168229:A:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr20:29168270:A:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chr20:29168771:C:G 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chr20:29170735:G:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr20:29170800:G:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr20:29171197:T:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr20:29171216:T:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr20:29171601:T:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr20:29171613:G:C 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr20:29171657:A:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr20:29171690:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr20:29171800:C:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr20:29172967:T:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr20:29173022:G:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr20:29173051:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr20:29173515:A:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr20:29173975:T:C 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr20:29173976:G:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr20:29173982:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr20:29174041:T:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr20:29174047:G:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr20:29174064:A:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr20:29174065:C:G 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr20:29174077:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr20:29174090:A:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr20:29174113:G:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr20:29174455:C:G 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr20:29174460:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr20:29174486:A:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr20:29174506:A:T 2,.,. -1 -1 -1 -1 -1 -1 42,.,. 1,.,. recessive HG002 HG002 chr20:29174558:T:G 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr20:29174670:C:T 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr20:29174753:T:A 2,.,. -1 -1 -1 -1 -1 -1 45,.,. 1,.,. recessive HG002 HG002 chr20:29174954:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr20:29174995:T:A 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr20:29175006:G:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr20:29175071:G:A 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr20:29175088:A:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr20:29175089:C:G 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr20:29175113:A:C 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. recessive HG002 HG002 chr20:29175542:C:T 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr20:29175583:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr20:29175640:C:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr20:29175652:C:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr20:29175665:C:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr20:29175709:C:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr20:29175725:G:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr20:29175872:T:A 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr20:29177381:G:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr20:29177755:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr20:29177995:G:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.982759,.,. recessive HG002 HG002 chr20:29178002:T:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.982759,.,. recessive HG002 HG002 chr20:29178009:A:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr20:29178200:A:AT 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.982759,.,. recessive HG002 HG002 chr20:29178203:G:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr20:29178369:A:C 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr20:29178382:A:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr20:29178383:C:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr20:29178392:G:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr20:29178402:G:C 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr20:29178405:G:C 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr20:29178457:A:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr20:29178458:C:T 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr20:29178463:C:T 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr20:29178468:G:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr20:29178495:A:C 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr20:29178499:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr20:29178508:T:G 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr20:29178766:G:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr20:29178808:A:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr20:29178813:A:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr20:29178832:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr20:29178840:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr20:29178849:G:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.981132,.,. recessive HG002 HG002 chr20:29178871:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr20:29178881:A:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr20:29178888:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr20:29178895:A:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr20:29178900:C:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr20:29178913:C:T 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr20:29178957:C:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr20:29178973:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr20:29178992:A:G 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.982759,.,. recessive HG002 HG002 chr20:29179010:T:C 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.982456,.,. recessive HG002 HG002 chr20:29179012:C:G 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr20:29179026:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr20:29179597:C:T 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr20:29179924:C:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr20:29180017:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr20:29180036:T:G 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 1,.,. recessive HG002 HG002 chr20:29180295:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr20:29180345:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. recessive HG002 HG002 chr20:29180348:A:G 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr20:29180485:T:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr20:29180521:A:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr20:29180569:T:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr20:29180603:C:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.982456,.,. recessive HG002 HG002 chr20:29182038:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. recessive HG002 HG002 chr20:29182325:T:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. recessive HG002 HG002 chr20:29182520:A:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr20:29182829:T:G 2,.,. -1 -1 -1 0.00210231 3 6 47,.,. 1,.,. recessive HG002 HG002 chr20:29183339:C:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.982456,.,. recessive HG002 HG002 chr20:29183975:C:G 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr20:29184392:A:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr20:29184393:C:G 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr20:29184396:C:T 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr20:29184416:C:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr20:29184426:T:C 2,.,. -1 -1 -1 -1 -1 -1 62,.,. 1,.,. recessive HG002 HG002 chr20:29184484:G:A 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr20:29184491:T:A 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr20:29184498:A:C 2,.,. -1 -1 -1 -1 -1 -1 63,.,. 1,.,. recessive HG002 HG002 chr20:29184692:G:T 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr20:29184733:T:A 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 1,.,. recessive HG002 HG002 chr20:29184809:G:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr20:29184839:C:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr20:29184851:A:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr20:29184859:T:A 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr20:29184881:G:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr20:29184891:G:C 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr20:29184952:C:T 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chr20:29185248:CG:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr20:29185414:T:A 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.982456,.,. recessive HG002 HG002 chr20:29185460:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.982143,.,. recessive HG002 HG002 chr20:29186200:G:A 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr20:29186410:A:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr20:29186517:C:A 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr20:29186541:C:T 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr20:29186583:C:T 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr20:29186610:T:G 2,.,. -1 -1 -1 -1 -1 -1 52,.,. 1,.,. recessive HG002 HG002 chr20:29187030:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr20:29187048:C:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr20:29187108:T:C 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr20:29187120:G:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr20:29187267:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr20:29187294:A:G 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr20:29187312:C:T 2,.,. -1 -1 -1 -1 -1 -1 49,.,. 1,.,. recessive HG002 HG002 chr20:29187405:G:A 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr20:29187415:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr20:29187440:C:G 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr20:29187998:A:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr20:29187999:C:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr20:29188031:C:T 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr20:29188637:C:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr20:29188677:C:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr20:29188721:A:G 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.982143,.,. recessive HG002 HG002 chr20:29188730:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr20:29188806:C:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr20:29189058:T:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr20:29189061:A:G 2,.,. -1 -1 -1 -1 -1 -1 57,.,. 1,.,. recessive HG002 HG002 chr20:29189139:A:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.981481,.,. recessive HG002 HG002 chr20:29189277:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr20:29189282:T:A 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr20:29189828:A:T 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.981818,.,. recessive HG002 HG002 chr20:29189843:A:C 2,.,. -1 -1 -1 -1 -1 -1 55,.,. 1,.,. recessive HG002 HG002 chr20:29189858:T:G 2,.,. -1 -1 -1 -1 -1 -1 54,.,. 1,.,. recessive HG002 HG002 chr20:29189952:G:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 0.982143,.,. recessive HG002 HG002 chr20:29189959:T:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 0.982759,.,. recessive HG002 HG002 chr20:29190326:A:C 2,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.981132,.,. recessive HG002 HG002 chr20:29190845:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr20:29190870:C:T 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr20:29190914:C:A 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. recessive HG002 HG002 chr20:29190930:G:A 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 1,.,. recessive HG002 HG002 chr20:29191379:T:G 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 1,.,. recessive HG002 HG002 chr20:29192022:G:A 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr20:29192253:G:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr20:29192305:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr20:29192325:C:G 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr20:29192338:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr20:29192725:C:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr20:29192930:T:G 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr20:29193600:T:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr20:29193621:T:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr20:29193693:G:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr20:29194128:C:T 2,.,. -1 -1 -1 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr20:29194364:C:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr20:29194376:T:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr20:29195402:A:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr20:29195472:T:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr20:29195669:G:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr20:29197607:A:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr20:29199705:G:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chr20:29210626:C:T 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.541667,.,. dominant HG002 HG002 chr20:29221293:C:A 1,.,. -1 -1 -1 0.000700771 0 2 24,.,. 0.458333,.,. dominant HG002 HG002 chr20:29305943:A:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.395833,.,. dominant HG002 HG002 chr20:29307854:A:AACAGACAG 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.391304,.,. dominant HG002 HG002 chr20:29307876:GAC:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.395833,.,. dominant HG002 HG002 chr20:29309117:TGAGAGTGA:T 1,.,. -1 -1 -1 -1 -1 -1 47,.,. 0.404255,.,. dominant HG002 HG002 chr20:29309135:G:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.416667,.,. dominant HG002 HG002 chr20:29420187:A:G 1,.,. -1 -1 -1 0.000700771 0 2 99,.,. 0.20202,.,. dominant HG002 HG002 chr20:29556370:T:TTTG 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. recessive HG002 HG002 chr20:29651772:A:C 2,.,. -1 -1 -1 -1 -1 -1 64,.,. 1,.,. dominant HG002 HG002 chr20:29674673:G:T 1,.,. -1 -1 -1 -1 -1 -1 63,.,. 0.301587,.,. dominant HG002 HG002 chr20:29697312:A:C 1,.,. -1 -1 -1 0.000700771 0 2 40,.,. 0.4,.,. recessive HG002 HG002 chr20:29704767:G:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr20:29715230:C:T 1,.,. -1 -1 -1 0.000700771 0 2 42,.,. 0.47619,.,. dominant HG002 HG002 chr20:29758413:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chr20:29801921:A:G 1,.,. -1 -1 -1 -1 -1 -1 55,.,. 0.381818,.,. dominant HG002 HG002 chr20:29806408:C:A 1,.,. -1 -1 -1 0.000700771 0 2 43,.,. 0.395349,.,. dominant HG002 HG002 chr20:29872479:C:A 1,.,. -1 -1 -1 0.000700771 0 2 89,.,. 0.213483,.,. dominant HG002 HG002 chr20:29876993:A:G 1,.,. -1 -1 -1 -1 -1 -1 113,.,. 0.212389,.,. dominant HG002 HG002 chr20:29925607:A:G 1,.,. -1 -1 -1 -1 -1 -1 10,.,. 0.3,.,. dominant HG002 HG002 chr20:29925732:G:C 1,.,. -1 -1 -1 -1 -1 -1 9,.,. 0.333333,.,. recessive HG002 HG002 chr20:30130603:A:AAG 2,.,. -1 -1 -1 -1 -1 -1 59,.,. 0.983051,.,. recessive HG002 HG002 chr20:30153474:G:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr20:30505206:A:C 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chr20:31168094:T:TTGGAA 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.65,.,. dominant HG002 HG002 chr20:31194474:G:A 1,.,. -1 -1 -1 0.000700771 0 2 20,.,. 0.35,.,. dominant HG002 HG002 chr20:31429233:T:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.354839,.,. recessive HG002 HG002 chr20:31638481:A:C 2,.,. -1 -1 -1 -1 -1 -1 COX4I2 50_intron 19,.,. 1,.,. COX4I2/intron/;COX4I2/non_coding/ 0.0001 0.7192 1.0790 5 Pancreatic insufficiency-anemia-hyperostosis syndrome 0.000 dominant HG002 HG002 chr20:31663137:T:TATACACACACAC 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.444444,.,. recessive HG002 HG002 chr20:32151444:GAGT:G 2,.,. -1 -1 -1 -1 -1 -1 TM9SF4 50_intron 33,.,. 1,.,. TM9SF4/intron/ 1.0000 0.2714 0.3770 0 recessive HG002 HG002 chr20:32151448:G:T 2,.,. -1 -1 -1 -1 -1 -1 TM9SF4 50_intron 33,.,. 1,.,. TM9SF4/intron/ 1.0000 0.2714 0.3770 0 recessive HG002 HG002 chr20:32163297:G:A 2,.,. 0.0182077 2 716 0.00630694 1 18 TM9SF4 50_intron 39,.,. 1,.,. TM9SF4/intron/;TM9SF4/non_coding/ 1.0000 0.2714 0.3770 0 dominant HG002 HG002 chr20:32542601:G:A 1,.,. -1 -1 -1 0.000700771 0 2 NOL4L 50_intron 23,.,. 0.391304,.,. NOL4L/intron/ 1.0000 0.0890 0.1870 0 dominant HG002 HG002 chr20:32666824:T:G 1,.,. -1 -1 -1 -1 -1 -1 C20orf203;FO393400.1 50_intron 31,.,. 0.387097,.,. C20orf203/intron/;FO393400.1/intron/ 0.0000 1.2753 1.8350 9 dominant HG002 HG002 chr20:32707292:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 FO393400.1 50_intron 29,.,. 0.482759,.,. FO393400.1/intron/ recessive HG002 HG002 chr20:32724968:A:T 2,.,. -1 -1 -1 -1 -1 -1 FO393400.1 50_intron 10,.,. 1,.,. FO393400.1/intron/ dominant HG002 HG002 chr20:33455474:G:A 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.352941,.,. dominant HG002 HG002 chr20:33759990:G:A 1,.,. -1 -1 -1 -1 -1 -1 ZNF341 50_intron 32,.,. 0.4375,.,. ZNF341/intron/ 0.0000 0.6000 0.7560 3 Hyper-IgE recurrent infection syndrome 3, autosomal recessive 0.000 dominant HG002 HG002 chr20:33920158:G:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.514286,.,. dominant HG002 HG002 chr20:34113734:A:AAAAG 1,.,. -1 -1 -1 0.00140154 0 4 47,.,. 0.340426,.,. recessive HG002 HG002 chr20:34472395:A:G 2,.,. 0.000281095 0 41 -1 -1 -1 ITCH 50_intron 44,.,. 1,.,. ITCH/intron/;ITCH/non_coding/ 1.0000 0.2338 0.3430 0 Syndromic multisystem autoimmune disease due to ITCH deficiency 0.000 dominant HG002 HG002 chr20:35000214:G:A 1,.,. -1 -1 -1 -1 -1 -1 MYH7B 50_intron 28,.,. 0.464286,.,. MYH7B/intron/ 0.0000 0.9040 1.0150 5 recessive HG002 HG002 chr20:35420664:A:ATGAAAAGGCTTTG 2,.,. 6.5735e-06 0 1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr20:35420666:T:G 2,.,. 0.00519931 0 6 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chr20:35420667:T:G 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chr20:36004571:C:CTT 1,.,. 2.06211e-05 0 3 -1 -1 -1 CNBD2 50_intron 21,.,. 0.285714,.,. CNBD2/intron/ 0.0000 0.9353 1.1730 6 dominant HG002 HG002 chr20:36173082:G:A 1,.,. 1.31413e-05 0 2 -1 -1 -1 EPB41L1 50_intron 26,.,. 0.384615,.,. EPB41L1/intron/ 1.0000 0.2829 0.3860 0 Intellectual disability, autosomal dominant 11 0.000 recessive HG002 HG002 chr20:36431144:ACAGGGTCCTC:A 2,.,. -1 -1 -1 -1 -1 -1 DLGAP4 50_intron 29,.,. 1,.,. DLGAP4/intron/ 1.0000 0.2233 0.3310 0 recessive HG002 HG002 chr20:36431156:C:T 2,.,. -1 -1 -1 -1 -1 -1 DLGAP4 50_intron 28,.,. 1,.,. DLGAP4/intron/ 1.0000 0.2233 0.3310 0 recessive HG002 HG002 chr20:36431157:G:T 2,.,. 0.000207061 0 4 -1 -1 -1 DLGAP4 50_intron 29,.,. 1,.,. DLGAP4/intron/ 1.0000 0.2233 0.3310 0 recessive HG002 HG002 chr20:37145269:CCT:C 2,.,. -1 -1 -1 0.00700771 2 20 MROH8 50_intron 23,.,. 1,.,. MROH8/non_coding/;MROH8/intron/ 0.0000 0.6636 0.8510 3 recessive HG002 HG002 chr20:37145273:C:T 2,.,. -1 -1 -1 0.00420463 1 12 MROH8 50_intron 32,.,. 1,.,. MROH8/non_coding/;MROH8/intron/ 0.0000 0.6636 0.8510 3 recessive HG002 HG002 chr20:37424619:T:G 2,.,. 0.0119048 0 2 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr20:37424621:A:G 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. recessive HG002 HG002 chr20:37725546:TGCC:T 2,.,. 2.65284e-05 0 4 -1 -1 -1 CTNNBL1 50_intron 44,.,. 1,.,. CTNNBL1/intron/ 0.0083 0.4666 0.6470 2 Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias 0.000 recessive HG002 HG002 chr20:37725550:T:C 2,.,. -1 -1 -1 -1 -1 -1 CTNNBL1 50_intron 44,.,. 1,.,. CTNNBL1/intron/ 0.0083 0.4666 0.6470 2 Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias 0.000 dominant HG002 HG002 chr20:37901395:T:G 1,.,. 2.63199e-05 0 4 -1 -1 -1 32,.,. 0.59375,.,. dominant HG002 HG002 chr20:37901903:G:GA 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.375,.,. recessive HG002 HG002 chr20:38709342:A:G 2,.,. 9.90347e-05 0 15 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chr20:39152244:A:C 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr20:39199279:G:GGGGCCACAGAC 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr20:39199282:C:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr20:39199283:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.513514,.,. dominant HG002 HG002 chr20:39463064:T:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.416667,.,. recessive HG002 HG002 chr20:39659468:T:C 2,.,. 0.0041841 0 92 0.000700771 0 2 43,.,. 1,.,. dominant HG002 HG002 chr20:39996371:AAGAAAGAGACTAGAAGC:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. dominant HG002 HG002 chr20:39996392:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.5,.,. recessive HG002 HG002 chr20:40097620:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr20:40097621:A:G 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr20:40097622:G:GTATT 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr20:40230828:G:GAGGA 1,.,. 7.32145e-05 0 4 -1 -1 -1 51,.,. 0.372549,.,. dominant HG002 HG002 chr20:40603183:G:GAAGGA 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chr20:40880015:AGCGCT:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.633333,.,. dominant HG002 HG002 chr20:40880021:G:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.633333,.,. dominant HG002 HG002 chr20:40971575:C:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr20:41002053:TTA:T 1,.,. 3.87087e-05 0 4 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr20:41002058:T:A 1,.,. 8.32099e-06 0 1 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr20:41196482:T:TTATAAATATATATTATATATAATATATATTTATATAAATATATATTATATATAAATATATATTATATATAATATATATTTATATAAATATATATTATATATTATATAAATATTATATATAATATATATTTA 1,.,. -1 -1 -1 0.00140154 0 4 ZHX3;PLCG1 50_intron 38,.,. 0.263158,.,. ZHX3/intron/;PLCG1/non_coding/ 0.9998;;0.1679 0.2960;;0.4113 0.4300;;0.5040 1;;1 Immune dysregulation, autoimmunity, and autoinflammation dominant HG002 HG002 chr20:41562840:TGGGTC:T 1,.,. -1 -1 -1 -1 -1 -1 CHD6 50_intron 41,.,. 0.463415,.,. CHD6/intron/;CHD6/non_coding/ 1.0000 0.1707 0.2210 0 dominant HG002 HG002 chr20:41676058:T:TTTCACA 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.481481,.,. dominant HG002 HG002 chr20:41842296:C:CTATT 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.529412,.,. dominant HG002 HG002 chr20:41886910:A:C 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.318182,.,. recessive HG002 HG002 chr20:42027058:C:G 2,.,. 0.000781856 1 119 0.000700771 0 2 41,.,. 1,.,. recessive HG002 HG002 chr20:42027129:C:G 2,.,. 0.000781907 1 119 0.000700771 0 2 38,.,. 1,.,. recessive HG002 HG002 chr20:42029256:G:A 2,.,. 0.000873586 1 133 0.000700771 0 2 38,.,. 1,.,. recessive HG002 HG002 chr20:42130697:G:A 2,.,. 0.000788498 1 120 0.000700771 0 2 PTPRT 50_intron 36,.,. 1,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 recessive HG002 HG002 chr20:42343971:C:T 2,.,. 0.00244805 2 373 0.00210231 0 6 PTPRT 50_intron 30,.,. 1,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 recessive HG002 HG002 chr20:42358262:T:C 2,.,. 0.000762436 1 116 0.00105116 0 3 PTPRT 50_intron 28,.,. 1,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 recessive HG002 HG002 chr20:42420350:T:C 2,.,. 0.000742678 1 113 0.000700771 0 2 PTPRT 50_intron 37,.,. 1,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 recessive HG002 HG002 chr20:42420793:C:T 2,.,. 0.00177293 1 270 0.00210231 0 6 PTPRT 50_intron 34,.,. 1,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 recessive HG002 HG002 chr20:42459535:G:T 2,.,. 0.00173324 1 264 0.00210231 0 6 PTPRT 50_intron 36,.,. 1,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 recessive HG002 HG002 chr20:42472028:C:A 2,.,. 0.00174081 1 265 0.0024527 0 7 PTPRT 50_intron 44,.,. 1,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 dominant HG002 HG002 chr20:42496452:C:T 1,.,. -1 -1 -1 -1 -1 -1 PTPRT 50_intron 39,.,. 0.461538,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 recessive HG002 HG002 chr20:42576339:C:G 2,.,. 0.0016808 1 256 0.0024527 0 7 PTPRT 50_intron 32,.,. 1,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 recessive HG002 HG002 chr20:42654099:G:C 2,.,. 0.000710059 1 108 0.000700771 0 2 PTPRT 50_intron 42,.,. 1,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 recessive HG002 HG002 chr20:42834314:T:C 2,.,. 0.000952681 1 145 0.000700771 0 2 PTPRT 50_intron 38,.,. 1,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 recessive HG002 HG002 chr20:42865389:T:A 2,.,. 0.00201594 3 307 0.00210231 0 6 PTPRT 50_intron 42,.,. 1,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 recessive HG002 HG002 chr20:43087359:CGTCCTTTTTT:C 2,.,. -1 -1 -1 0.0203224 2 58 PTPRT 50_intron 22,.,. 1,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 dominant HG002 HG002 chr20:43096931:T:C 1,.,. 6.57566e-06 0 1 -1 -1 -1 PTPRT 50_intron 34,.,. 0.411765,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 recessive HG002 HG002 chr20:43142473:C:T 2,.,. 0.00429292 1 654 0.00280308 0 8 PTPRT 50_intron 34,.,. 1,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 recessive HG002 HG002 chr20:43185843:A:C 2,.,. 0.000801556 1 122 0.000700771 0 2 PTPRT 50_intron 45,.,. 1,.,. PTPRT/intron/ 1.0000 0.3135 0.3950 0 recessive HG002 HG002 chr20:43232614:A:G 2,.,. 0.000716295 2 109 0.000700771 0 2 35,.,. 1,.,. recessive HG002 HG002 chr20:43280955:G:A 2,.,. 0.00102359 2 155 0.000700771 0 2 36,.,. 1,.,. recessive HG002 HG002 chr20:43319766:A:G 2,.,. 0.00135234 2 206 0.000700771 0 2 33,.,. 1,.,. recessive HG002 HG002 chr20:43435995:G:A 2,.,. 0.0015173 2 231 0.00105116 0 3 34,.,. 1,.,. recessive HG002 HG002 chr20:43507706:C:A 2,.,. 0.000769352 2 117 0.00105116 0 3 L3MBTL1 35_5_prime_utr 31,.,. 1,.,. L3MBTL1/5_prime_utr/ENST00000434666;L3MBTL1/5_prime_utr&NMD_transcript/ENST00000439769;L3MBTL1/5_prime_utr/ENST00000649084;L3MBTL1/5_prime_utr/ENST00000418998 0.0000 0.6853 0.8400 3 recessive HG002 HG002 chr20:43526651:T:C 2,.,. 0.000762175 2 116 0.00105116 0 3 AL031681.3;L3MBTL1 50_intron 40,.,. 1,.,. AL031681.3/intron/;L3MBTL1/intron/;L3MBTL1/non_coding/ 0.0000 0.6853 0.8400 3 recessive HG002 HG002 chr20:43559725:A:C 2,.,. 0.000853522 2 130 0.000700771 0 2 Z98752.3;SGK2 50_intron 26,.,. 1,.,. Z98752.3/intron/;SGK2/intron/ 0.0000 0.7381 1.0010 5 recessive HG002 HG002 chr20:43602138:T:TATTTA 2,.,. -1 -1 -1 0.00455501 1 13 IFT52 50_intron 42,.,. 1,.,. IFT52/intron/;IFT52/non_coding/ 0.0000 0.7990 1.1160 6 Short-rib thoracic dysplasia 16 with or without polydactyly 0.000 dominant HG002 HG002 chr20:43658577:A:C 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.590909,.,. recessive HG002 HG002 chr20:43677141:TCATCCTGTTGTGGACCAGG:T 2,.,. -1 -1 -1 0.00210231 0 6 MYBL2 50_intron 24,.,. 1,.,. MYBL2/intron/ 0.9730 0.3617 0.4960 1 recessive HG002 HG002 chr20:43677163:C:T 2,.,. -1 -1 -1 0.00210231 0 6 MYBL2 50_intron 24,.,. 1,.,. MYBL2/intron/ 0.9730 0.3617 0.4960 1 recessive HG002 HG002 chr20:43677164:T:G 2,.,. -1 -1 -1 0.00210231 0 6 MYBL2 50_intron 24,.,. 1,.,. MYBL2/intron/ 0.9730 0.3617 0.4960 1 recessive HG002 HG002 chr20:43678275:C:T 2,.,. 0.00154418 2 230 0.00140154 0 4 MYBL2 50_intron 31,.,. 1,.,. MYBL2/intron/ 0.9730 0.3617 0.4960 1 recessive HG002 HG002 chr20:43692067:C:T 2,.,. 0.000637621 1 97 0.000700771 0 2 MYBL2 50_intron 29,.,. 1,.,. MYBL2/intron/ 0.9730 0.3617 0.4960 1 recessive HG002 HG002 chr20:43752936:A:C 2,.,. 0.00183177 2 279 0.00105116 0 3 37,.,. 1,.,. recessive HG002 HG002 chr20:43923306:G:A 2,.,. 0.000613643 1 93 0.000700771 0 2 TOX2 50_intron 23,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:43994175:A:G 2,.,. 0.00143393 2 218 0.00105116 0 3 TOX2 50_intron 30,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44004596:C:T 2,.,. 0.00102442 1 156 0.000700771 0 2 TOX2 50_intron 33,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44005874:G:A 2,.,. 0.0068269 4 1039 0.00420463 0 12 TOX2 50_intron 34,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44007235:TAA:T 2,.,. 0.00474232 3 722 0.00280308 0 8 TOX2 50_intron 34,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44008798:CA:C 2,.,. 0.00493527 3 751 0.00350385 0 10 TOX2 50_intron 29,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44009148:A:G 2,.,. 0.00518747 3 790 0.00315347 0 9 TOX2 50_intron 29,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44009934:C:A 2,.,. 0.00794892 4 1210 0.00455501 0 13 TOX2 50_intron 31,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44014294:C:T 2,.,. 0.0043942 2 669 0.0024527 0 7 TOX2 50_intron 33,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44018421:C:T 2,.,. 0.00535135 3 815 0.00385424 0 11 TOX2 50_intron 35,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44020680:T:C 2,.,. 0.00534689 3 814 0.00385424 0 11 TOX2 50_intron 29,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44022315:T:C 2,.,. 0.00538609 3 820 0.00385424 0 11 TOX2 50_intron 31,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44025401:C:G 2,.,. 0.00542891 3 814 0.00385424 0 11 TOX2 50_intron 27,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44026790:C:T 2,.,. 0.0053998 3 822 0.00385424 0 11 TOX2 50_intron 33,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44027731:G:A 2,.,. 0.0054218 3 826 0.00385424 0 11 TOX2 50_intron 34,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44028112:T:A 2,.,. 0.00545992 3 831 0.00385424 0 11 TOX2 50_intron 36,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44035088:A:G 2,.,. 0.00580907 3 885 0.00385424 0 11 TOX2 50_intron 32,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44038658:C:T 2,.,. 0.00548655 3 834 0.00315347 0 9 TOX2 50_intron 37,.,. 1,.,. TOX2/intron/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44041498:T:G 2,.,. 0.00537225 4 818 0.00315347 0 9 TOX2 50_intron 33,.,. 1,.,. TOX2/intron/;TOX2/non_coding/ 0.9765 0.3280 0.5050 1 recessive HG002 HG002 chr20:44053439:T:TATATACACAC 2,.,. 0.00240331 1 344 0.00210231 0 6 TOX2 50_intron 18,.,. 1,.,. TOX2/intron/;TOX2/non_coding/ 0.9765 0.3280 0.5050 1 dominant HG002 HG002 chr20:44266379:C:A 1,.,. -1 -1 -1 -1 -1 -1 GDAP1L1 50_intron 24,.,. 0.583333,.,. GDAP1L1/intron/ 0.0001 0.6075 0.8830 4 dominant HG002 HG002 chr20:44337881:T:C 1,.,. 6.57056e-06 0 1 -1 -1 -1 R3HDML 50_intron 23,.,. 0.521739,.,. R3HDML/intron/ 0.0000 0.8163 1.1980 6 dominant HG002 HG002 chr20:44404751:A:G 1,.,. -1 -1 -1 -1 -1 -1 HNF4A 50_intron 33,.,. 0.606061,.,. HNF4A/intron/ 0.9992 0.2853 0.4390 1 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young;Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 1;Familial hyperinsulinism 0.000 recessive HG002 HG002 chr20:44742018:GAGCAGTTC:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr20:44742027:T:G 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr20:44931041:C:CT 2,.,. -1 -1 -1 0.0224247 1 64 PABPC1L 50_intron 33,.,. 1,.,. PABPC1L/intron/ 0.0281 0.4436 0.6080 2 Oocyte/zygote/embryo maturation arrest 22 dominant HG002 HG002 chr20:45369770:T:TTTTGTA 1,.,. 6.597e-06 0 1 -1 -1 -1 SYS1;SYS1-DBNDD2 50_intron 29,.,. 0.62069,.,. SYS1/intron/;SYS1-DBNDD2/intron/;SYS1-DBNDD2/non_coding/ 0.0404 0.5401 0.9750 4 dominant HG002 HG002 chr20:45369774:GTATTTT:G 1,.,. 6.64231e-06 0 1 -1 -1 -1 SYS1;SYS1-DBNDD2 50_intron 29,.,. 0.62069,.,. SYS1/intron/;SYS1-DBNDD2/intron/;SYS1-DBNDD2/non_coding/ 0.0404 0.5401 0.9750 4 dominant HG002 HG002 chr20:45591025:A:AATC 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.371429,.,. dominant HG002 HG002 chr20:45591026:C:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr20:45724999:T:C 1,.,. 1.27518e-05 0 1 0.000700771 0 2 SPINT4 50_intron 49,.,. 0.55102,.,. SPINT4/intron/ 0.0149 0.7406 1.4470 8 dominant HG002 HG002 chr20:45733916:G:GTATATA 1,.,. 9.34667e-05 0 4 -1 -1 -1 42,.,. 0.238095,.,. recessive HG002 HG002 chr20:46029913:TGTGC:T 2,.,. 6.98747e-05 0 3 -1 -1 -1 SLC12A5 50_intron 18,.,. 1,.,. SLC12A5/intron/;SLC12A5/non_coding/ 1.0000 0.1517 0.2250 0 Epilepsy, idiopathic generalized, susceptibility to, 14;Developmental and epileptic encephalopathy, 34 0.000 dominant HG002 HG002 chr20:46563610:A:AAGAGAGAG 1,.,. -1 -1 -1 -1 -1 -1 SLC13A3 50_intron 32,.,. 0.59375,.,. SLC13A3/intron/ 0.0000 0.6719 0.8980 4 Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 0.000 dominant HG002 HG002 chr20:46934356:T:TCCTCGTC 1,.,. -1 -1 -1 -1 -1 -1 EYA2 50_intron 33,.,. 0.545455,.,. EYA2/intron/ 0.0043 0.4720 0.6470 2 dominant HG002 HG002 chr20:47023638:T:TTTTG 1,.,. 5.66845e-05 0 4 0.00105116 0 3 EYA2 50_intron 39,.,. 0.333333,.,. EYA2/intron/ 0.0043 0.4720 0.6470 2 dominant HG002 HG002 chr20:47023643:T:G 1,.,. 7.11217e-06 0 1 -1 -1 -1 EYA2 50_intron 45,.,. 0.422222,.,. EYA2/intron/ 0.0043 0.4720 0.6470 2 dominant HG002 HG002 chr20:47148021:T:TGCAGTCC 1,.,. -1 -1 -1 -1 -1 -1 EYA2 50_intron 26,.,. 0.653846,.,. EYA2/intron/ 0.0043 0.4720 0.6470 2 dominant HG002 HG002 chr20:47148023:T:C 1,.,. -1 -1 -1 -1 -1 -1 EYA2 50_intron 26,.,. 0.653846,.,. EYA2/intron/ 0.0043 0.4720 0.6470 2 dominant HG002 HG002 chr20:47152775:C:T 1,.,. 2.03161e-05 0 3 -1 -1 -1 EYA2 50_intron 26,.,. 0.461538,.,. EYA2/intron/ 0.0043 0.4720 0.6470 2 recessive HG002 HG002 chr20:47481213:CACTGCAGGT:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr20:47481223:T:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chr20:47614076:A:G 1,.,. -1 -1 -1 -1 -1 -1 NCOA3 50_intron 59,.,. 0.559322,.,. NCOA3/intron/ 1.0000 0.2915 0.3760 0 dominant HG002 HG002 chr20:48282117:C:T 1,.,. 1.97151e-05 0 3 -1 -1 -1 39,.,. 0.538462,.,. dominant HG002 HG002 chr20:48415390:G:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr20:48449812:GGGATGGGATGGAT:G 1,.,. 3.51383e-05 0 4 0.00105116 0 3 29,.,. 0.551724,.,. dominant HG002 HG002 chr20:48449939:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr20:48449940:A:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr20:48449941:T:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.6,.,. dominant HG002 HG002 chr20:48450400:G:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.586207,.,. dominant HG002 HG002 chr20:48512254:G:A 1,.,. -1 -1 -1 0.00105116 1 3 24,.,. 0.5,.,. dominant HG002 HG002 chr20:48959471:C:G 1,.,. -1 -1 -1 -1 -1 -1 ARFGEF2 50_intron 34,.,. 0.647059,.,. ARFGEF2/intron/ 1.0000 0.3213 0.3910 0 Periventricular heterotopia with microcephaly, autosomal recessive 0.000 dominant HG002 HG002 chr20:49140984:A:T 1,.,. 4.92951e-05 0 3 -1 -1 -1 STAU1 50_intron 43,.,. 0.372093,.,. STAU1/intron/ 1.0000 0.2058 0.3270 0 dominant HG002 HG002 chr20:49331332:G:T 1,.,. -1 -1 -1 -1 -1 -1 KCNB1;AL035685.1 50_intron 36,.,. 0.388889,.,. KCNB1/non_coding/;KCNB1/intron/;AL035685.1/non_coding/ 1.0000 0.1822 0.3090 0 Developmental and epileptic encephalopathy, 26 0.000 dominant HG002 HG002 chr20:49680030:T:C 1,.,. 1.31258e-05 0 2 -1 -1 -1 B4GALT5 50_intron 37,.,. 0.594595,.,. B4GALT5/intron/ 0.9992 0.2380 0.4150 1 dominant HG002 HG002 chr20:49722846:A:AATAT 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.444444,.,. dominant HG002 HG002 chr20:50028299:C:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr20:50162742:C:CACACTACACA 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.454545,.,. dominant HG002 HG002 chr20:50173783:T:G 1,.,. 1.32259e-05 0 2 -1 -1 -1 27,.,. 0.444444,.,. dominant HG002 HG002 chr20:50381153:G:A 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. recessive HG002 HG002 chr20:50452381:G:C 2,.,. 0.00039097 2 54 0.0049054 0 14 30,.,. 1,.,. recessive HG002 HG002 chr20:51089975:T:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr20:51089977:A:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr20:51089980:T:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr20:51113289:C:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.428571,.,. dominant HG002 HG002 chr20:51187941:T:TGTA 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr20:51187943:G:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.5,.,. dominant HG002 HG002 chr20:51421875:C:CATCTGTA 1,.,. -1 -1 -1 -1 -1 -1 NFATC2 50_intron 27,.,. 0.555556,.,. NFATC2/intron/ 1.0000 0.2534 0.3650 0 Joint contractures, osteochondromas, and B-cell lymphoma dominant HG002 HG002 chr20:51421878:T:A 1,.,. -1 -1 -1 -1 -1 -1 NFATC2 50_intron 27,.,. 0.555556,.,. NFATC2/intron/ 1.0000 0.2534 0.3650 0 Joint contractures, osteochondromas, and B-cell lymphoma dominant HG002 HG002 chr20:51542751:G:GGGGGGA 1,.,. 3.44645e-05 0 3 -1 -1 -1 NFATC2 50_intron 36,.,. 0.222222,.,. NFATC2/intron/ 1.0000 0.2534 0.3650 0 Joint contractures, osteochondromas, and B-cell lymphoma dominant HG002 HG002 chr20:52486671:T:G 1,.,. 1.31954e-05 0 2 -1 -1 -1 37,.,. 0.567568,.,. dominant HG002 HG002 chr20:52997324:ACTGAT:A 1,.,. -1 -1 -1 -1 -1 -1 TSHZ2 50_intron 37,.,. 0.459459,.,. TSHZ2/intron/ 1.0000 0.2819 0.4060 1 dominant HG002 HG002 chr20:52997331:A:C 1,.,. -1 -1 -1 -1 -1 -1 TSHZ2 50_intron 38,.,. 0.473684,.,. TSHZ2/intron/ 1.0000 0.2819 0.4060 1 dominant HG002 HG002 chr20:53000459:T:C 1,.,. -1 -1 -1 -1 -1 -1 TSHZ2 50_intron 35,.,. 0.485714,.,. TSHZ2/intron/ 1.0000 0.2819 0.4060 1 dominant HG002 HG002 chr20:53280413:C:T 1,.,. 2.6312e-05 0 4 -1 -1 -1 TSHZ2 50_intron 38,.,. 0.578947,.,. TSHZ2/intron/ 1.0000 0.2819 0.4060 1 dominant HG002 HG002 chr20:53421740:T:C 1,.,. 2.18395e-05 0 3 -1 -1 -1 TSHZ2 50_intron 38,.,. 0.421053,.,. TSHZ2/intron/ 1.0000 0.2819 0.4060 1 dominant HG002 HG002 chr20:53469049:A:T 1,.,. 1.58504e-05 0 1 -1 -1 -1 TSHZ2 50_intron 27,.,. 0.518519,.,. TSHZ2/intron/ 1.0000 0.2819 0.4060 1 dominant HG002 HG002 chr20:53481041:T:TTATTAG 1,.,. -1 -1 -1 -1 -1 -1 TSHZ2 50_intron 25,.,. 0.4,.,. TSHZ2/intron/ 1.0000 0.2819 0.4060 1 dominant HG002 HG002 chr20:53481043:G:A 1,.,. 6.61411e-06 0 1 -1 -1 -1 TSHZ2 50_intron 22,.,. 0.5,.,. TSHZ2/intron/ 1.0000 0.2819 0.4060 1 dominant HG002 HG002 chr20:53745827:A:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr20:54510341:C:T 1,.,. -1 -1 -1 -1 -1 -1 DOK5 50_intron 37,.,. 0.540541,.,. DOK5/intron/ 0.0000 0.6579 0.9320 4 dominant HG002 HG002 chr20:54694040:AAATCAT:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr20:54694048:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. recessive HG002 HG002 chr20:54826680:G:A 2,.,. 0.00615385 0 4 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr20:54878904:G:GTTTTTTTTTT 2,.,. -1 -1 -1 0.00525578 0 15 25,.,. 1,.,. dominant HG002 HG002 chr20:54985566:TAAC:T 1,.,. 1.98206e-05 0 3 -1 -1 -1 42,.,. 0.47619,.,. recessive HG002 HG002 chr20:55188008:A:G 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr20:55188009:C:A 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr20:55196507:T:G 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. dominant HG002 HG002 chr20:55310039:G:C 1,.,. 1.31484e-05 0 2 -1 -1 -1 44,.,. 0.363636,.,. dominant HG002 HG002 chr20:55369905:T:TTG 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.586957,.,. dominant HG002 HG002 chr20:55450414:G:GGTGT 1,.,. 1.56939e-05 0 2 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr20:55450538:C:T 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.547619,.,. dominant HG002 HG002 chr20:55493721:A:G 1,.,. 1.31461e-05 0 2 -1 -1 -1 47,.,. 0.638298,.,. dominant HG002 HG002 chr20:55544067:TTCGG:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.638889,.,. dominant HG002 HG002 chr20:55544073:A:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.648649,.,. dominant HG002 HG002 chr20:55625414:G:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr20:55625415:T:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr20:55625416:A:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr20:55633127:T:TGCA 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5625,.,. dominant HG002 HG002 chr20:55633129:A:G 1,.,. 1.11887e-05 0 1 -1 -1 -1 31,.,. 0.548387,.,. dominant HG002 HG002 chr20:55642055:TAAGC:T 1,.,. 6.57376e-06 0 1 -1 -1 -1 41,.,. 0.341463,.,. recessive HG002 HG002 chr20:55687510:T:TTG 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr20:55687511:G:A 2,.,. -1 -1 -1 -1 -1 -1 37,.,. 1,.,. dominant HG002 HG002 chr20:55847519:A:G 1,.,. 1.31556e-05 0 2 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr20:55985342:CAG:C 1,.,. 1.31463e-05 0 2 -1 -1 -1 32,.,. 0.46875,.,. dominant HG002 HG002 chr20:56388940:C:A 1,.,. 1.97176e-05 0 3 -1 -1 -1 AURKA 50_intron 32,.,. 0.5,.,. AURKA/intron/ 0.9326 0.3479 0.5280 1 Colorectal cancer 0.000 dominant HG002 HG002 chr20:56732340:A:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.384615,.,. dominant HG002 HG002 chr20:57056336:T:A 1,.,. 1.36482e-05 0 2 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr20:57091160:A:T 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.4,.,. dominant HG002 HG002 chr20:57190419:T:C 1,.,. -1 -1 -1 -1 -1 -1 BMP7 50_intron 31,.,. 0.483871,.,. BMP7/intron/;BMP7/non_coding/ 0.9588 0.3226 0.5230 1 dominant HG002 HG002 chr20:57608434:TTA:T 1,.,. -1 -1 -1 -1 -1 -1 ZBP1 50_intron 36,.,. 0.416667,.,. ZBP1/intron/;ZBP1/non_coding/ 0.0000 1.0034 1.2940 7 dominant HG002 HG002 chr20:57608442:C:A 1,.,. -1 -1 -1 -1 -1 -1 ZBP1 50_intron 37,.,. 0.432432,.,. ZBP1/intron/;ZBP1/non_coding/ 0.0000 1.0034 1.2940 7 dominant HG002 HG002 chr20:57630852:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.594595,.,. dominant HG002 HG002 chr20:57830448:G:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.5,.,. dominant HG002 HG002 chr20:58968219:T:G 1,.,. 4.17798e-05 0 4 -1 -1 -1 15,.,. 0.4,.,. dominant HG002 HG002 chr20:58975177:AGTAAAACTCTGTCT:A 1,.,. -1 -1 -1 -1 -1 -1 24,.,. 0.5,.,. dominant HG002 HG002 chr20:58978446:ATGGAGAAACC:A 1,.,. 5.53608e-05 0 3 -1 -1 -1 23,.,. 0.521739,.,. dominant HG002 HG002 chr20:59442200:C:CCTTCCCCTCCCCCCTCCCTCCCCTCCCTTCCCTCCCTCCTTCCTTCCTTCTTCCCTCCCTCCCCTCCCTTT 1,.,. -1 -1 -1 0.000700771 0 2 29,.,. 0.413793,.,. dominant HG002 HG002 chr20:59638796:A:AGATG 1,.,. -1 -1 -1 -1 -1 -1 PHACTR3 50_intron 37,.,. 0.513514,.,. PHACTR3/intron/ 1.0000 0.1827 0.3020 0 dominant HG002 HG002 chr20:59822126:CTCCGCAGCGATCCCACCCCCTCCGCAGCGATCCCACCCCT:C 1,.,. 3.62568e-05 0 2 0.00105116 0 3 PHACTR3 50_intron 25,.,. 0.44,.,. PHACTR3/intron/ 1.0000 0.1827 0.3020 0 dominant HG002 HG002 chr20:60787078:C:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr20:60882273:G:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.685714,.,. dominant HG002 HG002 chr20:60882274:G:A 1,.,. 1.31518e-05 0 2 -1 -1 -1 35,.,. 0.685714,.,. dominant HG002 HG002 chr20:60882275:G:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.685714,.,. dominant HG002 HG002 chr20:60882276:C:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.685714,.,. dominant HG002 HG002 chr20:60882277:C:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.727273,.,. dominant HG002 HG002 chr20:60882278:G:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.705882,.,. dominant HG002 HG002 chr20:60882279:A:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.685714,.,. dominant HG002 HG002 chr20:60933641:C:G 1,.,. 1.97145e-05 0 3 -1 -1 -1 20,.,. 0.55,.,. dominant HG002 HG002 chr20:60957203:C:T 1,.,. 1.97096e-05 0 3 -1 -1 -1 28,.,. 0.392857,.,. dominant HG002 HG002 chr20:61019912:A:G 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.478261,.,. dominant HG002 HG002 chr20:61304773:GGTT:G 1,.,. -1 -1 -1 -1 -1 -1 CDH4 50_intron 29,.,. 0.275862,.,. CDH4/intron/ 0.5408 0.3983 0.5330 1 dominant HG002 HG002 chr20:61304777:G:T 1,.,. -1 -1 -1 -1 -1 -1 CDH4 50_intron 29,.,. 0.275862,.,. CDH4/intron/ 0.5408 0.3983 0.5330 1 dominant HG002 HG002 chr20:61329896:A:T 1,.,. 7.06524e-06 0 1 -1 -1 -1 CDH4 50_intron 26,.,. 0.5,.,. CDH4/intron/ 0.5408 0.3983 0.5330 1 dominant HG002 HG002 chr20:61329897:G:C 1,.,. -1 -1 -1 -1 -1 -1 CDH4 50_intron 25,.,. 0.48,.,. CDH4/intron/ 0.5408 0.3983 0.5330 1 dominant HG002 HG002 chr20:61362348:G:A 1,.,. -1 -1 -1 -1 -1 -1 CDH4 50_intron 30,.,. 0.3,.,. CDH4/intron/ 0.5408 0.3983 0.5330 1 dominant HG002 HG002 chr20:61444050:CTCTGGTTG:C 1,.,. -1 -1 -1 -1 -1 -1 CDH4 50_intron 34,.,. 0.558824,.,. CDH4/intron/ 0.5408 0.3983 0.5330 1 dominant HG002 HG002 chr20:61444067:T:G 1,.,. -1 -1 -1 -1 -1 -1 CDH4 50_intron 34,.,. 0.558824,.,. CDH4/intron/ 0.5408 0.3983 0.5330 1 dominant HG002 HG002 chr20:61444068:G:T 1,.,. -1 -1 -1 -1 -1 -1 CDH4 50_intron 34,.,. 0.558824,.,. CDH4/intron/ 0.5408 0.3983 0.5330 1 dominant HG002 HG002 chr20:61565221:T:TGGTGGTAGTGGTCCTCTTGGTGATGGGG 1,.,. -1 -1 -1 -1 -1 -1 CDH4 50_intron 26,.,. 0.423077,.,. CDH4/intron/ 0.5408 0.3983 0.5330 1 dominant HG002 HG002 chr20:61565233:G:GTGGTGCTCT 1,.,. -1 -1 -1 0.000700771 0 2 CDH4 50_intron 27,.,. 0.444444,.,. CDH4/intron/ 0.5408 0.3983 0.5330 1 dominant HG002 HG002 chr20:61729115:CTGCA:C 1,.,. -1 -1 -1 -1 -1 -1 CDH4 50_intron 31,.,. 0.612903,.,. CDH4/intron/ 0.5408 0.3983 0.5330 1 dominant HG002 HG002 chr20:61729120:G:A 1,.,. -1 -1 -1 -1 -1 -1 CDH4 50_intron 31,.,. 0.612903,.,. CDH4/intron/ 0.5408 0.3983 0.5330 1 dominant HG002 HG002 chr20:62185438:A:T 1,.,. -1 -1 -1 -1 -1 -1 MTG2 50_intron 19,.,. 0.368421,.,. MTG2/non_coding/;MTG2/intron/ 0.0000 0.7458 1.0650 5 recessive HG002 HG002 chr20:62373080:G:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chr20:62373084:CTATCTCTT:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chr20:62413461:G:T 1,.,. -1 -1 -1 -1 -1 -1 RBBP8NL 14_missense 23,.,. 0.652174,.,. RBBP8NL/missense/ENST00000252998 0.0000 1.2240 1.5200 8 dominant HG002 HG002 chr20:62498836:G:T 1,.,. 5.84727e-05 0 2 -1 -1 -1 11,.,. 0.636364,.,. dominant HG002 HG002 chr20:62728106:C:CACGT 1,.,. 6.57817e-06 0 1 -1 -1 -1 NTSR1 50_intron 38,.,. 0.394737,.,. NTSR1/intron/ 0.0000 0.9252 1.2610 7 dominant HG002 HG002 chr20:62804142:C:T 1,.,. 2.62854e-05 0 4 -1 -1 -1 21,.,. 0.714286,.,. dominant HG002 HG002 chr20:62833880:T:TTTTG 1,.,. 2.39429e-05 0 2 -1 -1 -1 COL9A3 50_intron 20,.,. 0.55,.,. COL9A3/intron/;COL9A3/non_coding/ 0.0000 0.8585 1.0260 5 Stickler syndrome, type 6;Epiphyseal dysplasia, multiple, 3;Intervertebral disc disorder 0.000 dominant HG002 HG002 chr20:62833885:T:TTTG 1,.,. -1 -1 -1 -1 -1 -1 COL9A3 50_intron 21,.,. 0.428571,.,. COL9A3/intron/;COL9A3/non_coding/ 0.0000 0.8585 1.0260 5 Stickler syndrome, type 6;Epiphyseal dysplasia, multiple, 3;Intervertebral disc disorder 0.000 dominant HG002 HG002 chr20:62906705:T:C 1,.,. -1 -1 -1 -1 -1 -1 DIDO1 50_intron 53,.,. 0.584906,.,. DIDO1/intron/ 1.0000 0.1550 0.2350 0 dominant HG002 HG002 chr20:62906707:C:T 1,.,. -1 -1 -1 -1 -1 -1 DIDO1 50_intron 53,.,. 0.584906,.,. DIDO1/intron/ 1.0000 0.1550 0.2350 0 dominant HG002 HG002 chr20:62906708:A:T 1,.,. -1 -1 -1 -1 -1 -1 DIDO1 50_intron 52,.,. 0.576923,.,. DIDO1/intron/ 1.0000 0.1550 0.2350 0 dominant HG002 HG002 chr20:62906709:A:G 1,.,. -1 -1 -1 -1 -1 -1 DIDO1 50_intron 53,.,. 0.584906,.,. DIDO1/intron/ 1.0000 0.1550 0.2350 0 dominant HG002 HG002 chr20:63094245:C:T 1,.,. -1 -1 -1 -1 -1 -1 11,.,. 0.363636,.,. dominant HG002 HG002 chr20:63115168:C:CCA 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.611111,.,. recessive HG002 HG002 chr20:63366228:T:C 2,.,. 8.45717e-05 0 7 0.00455501 2 13 CHRNA4 53_non_coding 6,.,. 1,.,. CHRNA4/non_coding/ 0.0000 0.6085 0.8340 3 Autosomal dominant nocturnal frontal lobe epilepsy 1;Tobacco addiction, susceptibility to 0.000 dominant HG002 HG002 chr20:63632195:C:A 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.388889,.,. dominant HG002 HG002 chr20:63732098:T:G 1,.,. 1.97485e-05 0 3 -1 -1 -1 ZGPAT;AL121845.3 50_intron 28,.,. 0.321429,.,. ZGPAT/intron/;ZGPAT/non_coding/;AL121845.3/intron/ 0.0000 0.8430 1.1010 6 dominant HG002 HG002 chr20:63774789:T:A 1,.,. -1 -1 -1 -1 -1 -1 ZBTB46 50_intron 22,.,. 0.590909,.,. ZBTB46/intron/ 0.9999 0.2172 0.3790 0 dominant HG002 HG002 chr20:63883828:G:C 1,.,. 2.47831e-05 0 2 -1 -1 -1 TPD52L2 50_intron 14,.,. 0.428571,.,. TPD52L2/intron/ 0.0000 0.7831 1.1380 6 dominant HG002 HG002 chr20:63970914:C:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.428571,.,. dominant HG002 HG002 chr20:64141403:G:GCT 1,.,. 3.6075e-05 0 1 -1 -1 -1 MYT1 50_intron 19,.,. 0.421053,.,. MYT1/intron/ 1.0000 0.1817 0.2570 0 dominant HG002 HG002 chr20:64201468:CATGCA:C 1,.,. -1 -1 -1 -1 -1 -1 MYT1 50_intron 30,.,. 0.6,.,. MYT1/intron/ 1.0000 0.1817 0.2570 0 dominant HG002 HG002 chr20:64201475:T:A 1,.,. -1 -1 -1 -1 -1 -1 MYT1 50_intron 30,.,. 0.6,.,. MYT1/intron/ 1.0000 0.1817 0.2570 0 dominant HG002 HG002 chr21:7918486:C:A 1,.,. -1 -1 -1 -1 -1 -1 106,.,. 0.433962,.,. recessive HG002 HG002 chr21:8011623:A:AAG 2,.,. -1 -1 -1 -1 -1 -1 199,.,. 0.98995,.,. recessive HG002 HG002 chr21:8011626:A:G 2,.,. -1 -1 -1 -1 -1 -1 198,.,. 1,.,. recessive HG002 HG002 chr21:8209225:G:GGCC 2,.,. -1 -1 -1 -1 -1 -1 58,.,. 1,.,. recessive HG002 HG002 chr21:8209228:G:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. recessive HG002 HG002 chr21:8209261:C:CCG 2,.,. -1 -1 -1 -1 -1 -1 61,.,. 1,.,. recessive HG002 HG002 chr21:8209262:G:C 2,.,. -1 -1 -1 -1 -1 -1 60,.,. 1,.,. dominant HG002 HG002 chr21:8227625:A:C 1,.,. -1 -1 -1 -1 -1 -1 337,.,. 0.246291,.,. dominant HG002 HG002 chr21:8227629:A:C 1,.,. -1 -1 -1 -1 -1 -1 339,.,. 0.247788,.,. dominant HG002 HG002 chr21:8227692:C:T 1,.,. -1 -1 -1 -1 -1 -1 344,.,. 0.252907,.,. recessive HG002 HG002 chr21:8553745:A:ATGAAG 2,.,. -1 -1 -1 0.0133146 4 38 9,.,. 1,.,. recessive HG002 HG002 chr21:8558854:G:T 2,.,. -1 -1 -1 0.0119131 0 34 12,.,. 1,.,. recessive HG002 HG002 chr21:9159839:C:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr21:9159863:T:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr21:9183835:T:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr21:9184398:T:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr21:9184474:T:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr21:9184770:G:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr21:9185113:C:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr21:9185363:G:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr21:9185418:T:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr21:9185436:C:T 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr21:9185621:C:T 2,.,. 0.000523977 0 25 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr21:9185678:G:A 2,.,. 0.0208421 0 987 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr21:9185901:G:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr21:9185938:T:C 2,.,. -1 -1 -1 0.00420463 2 12 9,.,. 1,.,. recessive HG002 HG002 chr21:9186272:G:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr21:9186385:G:A 2,.,. -1 -1 -1 0.00105116 1 3 9,.,. 1,.,. recessive HG002 HG002 chr21:9186407:A:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chr21:9186740:G:C 2,.,. -1 -1 -1 0.00315347 4 9 9,.,. 1,.,. recessive HG002 HG002 chr21:9187611:A:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr21:9187617:A:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr21:9187891:C:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr21:9188024:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr21:9188044:G:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr21:9188874:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr21:9189721:GA:G 2,.,. -1 -1 -1 0.00140154 2 4 7,.,. 1,.,. recessive HG002 HG002 chr21:9190840:A:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chr21:9818414:G:GGC 2,.,. -1 -1 -1 -1 -1 -1 LINC01667 53_non_coding 40,.,. 1,.,. LINC01667/non_coding/ recessive HG002 HG002 chr21:9818415:C:G 2,.,. -1 -1 -1 0.00140154 0 4 LINC01667 53_non_coding 37,.,. 1,.,. LINC01667/non_coding/ dominant HG002 HG002 chr21:10070471:C:T 1,.,. -1 -1 -1 -1 -1 -1 CR382285.1 53_non_coding 63,.,. 0.380952,.,. CR382285.1/non_coding/ recessive HG002 HG002 chr21:10135975:G:A 2,.,. 0.000452367 0 57 0.0203224 0 58 38,.,. 1,.,. recessive HG002 HG002 chr21:10136290:G:A 2,.,. -1 -1 -1 0.0255781 1 73 38,.,. 1,.,. recessive HG002 HG002 chr21:10139795:C:T 2,.,. -1 -1 -1 0.00805886 0 23 55,.,. 0.981818,.,. recessive HG002 HG002 chr21:10145920:C:A 2,.,. -1 -1 -1 0.0126139 0 36 75,.,. 1,.,. recessive HG002 HG002 chr21:10146569:G:A 2,.,. -1 -1 -1 0.0178697 0 51 78,.,. 0.987179,.,. dominant HG002 HG002 chr21:10329819:G:A 1,.,. -1 -1 -1 0.00140154 0 4 249,.,. 0.204819,.,. dominant HG002 HG002 chr21:10329831:C:T 1,.,. -1 -1 -1 0.000700771 0 2 250,.,. 0.204,.,. dominant HG002 HG002 chr21:10476291:C:T 1,.,. -1 -1 -1 -1 -1 -1 BAGE2 53_non_coding 185,.,. 0.443243,.,. BAGE2/non_coding/ recessive HG002 HG002 chr21:10508073:A:ACG 2,.,. -1 -1 -1 -1 -1 -1 BAGE2 53_non_coding 58,.,. 1,.,. BAGE2/non_coding/ recessive HG002 HG002 chr21:10508074:G:T 2,.,. -1 -1 -1 -1 -1 -1 BAGE2 53_non_coding 62,.,. 0.983871,.,. BAGE2/non_coding/ dominant HG002 HG002 chr21:10616853:C:T 1,.,. -1 -1 -1 -1 -1 -1 128,.,. 0.585938,.,. dominant HG002 HG002 chr21:10629587:A:G 1,.,. -1 -1 -1 -1 -1 -1 143,.,. 0.384615,.,. dominant HG002 HG002 chr21:10683060:C:T 1,.,. -1 -1 -1 -1 -1 -1 91,.,. 0.648352,.,. dominant HG002 HG002 chr21:10696758:C:A 1,.,. -1 -1 -1 -1 -1 -1 101,.,. 0.465347,.,. dominant HG002 HG002 chr21:13017295:ATTTTTTTAT:A 1,.,. 1.33964e-05 0 2 -1 -1 -1 69,.,. 0.362319,.,. dominant HG002 HG002 chr21:13019685:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.410959,.,. dominant HG002 HG002 chr21:13019686:C:A 1,.,. -1 -1 -1 -1 -1 -1 73,.,. 0.410959,.,. recessive HG002 HG002 chr21:13048350:CCT:C 2,.,. -1 -1 -1 -1 -1 -1 ANKRD30BP2 53_non_coding 45,.,. 1,.,. ANKRD30BP2/non_coding/ dominant HG002 HG002 chr21:13158571:T:A 1,.,. -1 -1 -1 0.000700771 0 2 40,.,. 0.625,.,. dominant HG002 HG002 chr21:13429446:C:A 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.416667,.,. recessive HG002 HG002 chr21:13445840:C:T 2,.,. -1 -1 -1 -1 -1 -1 GTF2IP2 53_non_coding 27,.,. 1,.,. GTF2IP2/non_coding/ recessive HG002 HG002 chr21:13445842:T:C 2,.,. -1 -1 -1 -1 -1 -1 GTF2IP2 53_non_coding 27,.,. 1,.,. GTF2IP2/non_coding/ dominant HG002 HG002 chr21:13805061:T:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr21:13905272:A:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. recessive HG002 HG002 chr21:13977168:G:GTAAT 2,.,. -1 -1 -1 0.0262789 0 75 ANKRD20A11P 53_non_coding 31,.,. 1,.,. ANKRD20A11P/non_coding/ recessive HG002 HG002 chr21:13977172:T:C 2,.,. -1 -1 -1 -1 -1 -1 ANKRD20A11P 53_non_coding 31,.,. 1,.,. ANKRD20A11P/non_coding/ dominant HG002 HG002 chr21:14060939:C:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.37931,.,. recessive HG002 HG002 chr21:14071849:CAT:C 2,.,. 7.17618e-06 0 1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr21:14071852:C:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chr21:14233702:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.368421,.,. dominant HG002 HG002 chr21:14233703:C:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.368421,.,. recessive HG002 HG002 chr21:14365111:TATATATACAG:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr21:14365122:A:T 2,.,. -1 -1 -1 -1 -1 -1 46,.,. 1,.,. recessive HG002 HG002 chr21:14539601:T:G 2,.,. 0.00215974 3 328 0.00280308 0 8 SAMSN1 50_intron 38,.,. 1,.,. SAMSN1/intron/;SAMSN1/non_coding/ 0.0000 0.7793 1.1130 6 dominant HG002 HG002 chr21:14641008:T:A 1,.,. 0.00010636 0 1 -1 -1 -1 SAMSN1 50_intron 46,.,. 0.565217,.,. SAMSN1/intron/;SAMSN1/non_coding/ 0.0000 0.7793 1.1130 6 dominant HG002 HG002 chr21:14641010:AATGT:A 1,.,. -1 -1 -1 -1 -1 -1 SAMSN1 50_intron 46,.,. 0.565217,.,. SAMSN1/intron/;SAMSN1/non_coding/ 0.0000 0.7793 1.1130 6 dominant HG002 HG002 chr21:14683637:A:AAAGG 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.405405,.,. dominant HG002 HG002 chr21:15068170:C:T 1,.,. 9.27764e-06 0 1 -1 -1 -1 54,.,. 0.5,.,. dominant HG002 HG002 chr21:15068175:C:T 1,.,. 9.27816e-06 0 1 -1 -1 -1 54,.,. 0.5,.,. dominant HG002 HG002 chr21:15518167:A:AATAATATATAT 1,.,. -1 -1 -1 -1 -1 -1 45,.,. 0.466667,.,. recessive HG002 HG002 chr21:16203087:G:T 2,.,. 0.0157068 0 6 -1 -1 -1 51,.,. 0.980392,.,. recessive HG002 HG002 chr21:16203089:T:C 2,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.980392,.,. recessive HG002 HG002 chr21:16203090:C:T 2,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.98,.,. dominant HG002 HG002 chr21:16238032:ATATC:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.363636,.,. recessive HG002 HG002 chr21:16290617:T:C 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr21:16290619:A:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr21:16290620:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr21:16747471:A:G 2,.,. 0.00128678 2 120 0.0024527 1 7 18,.,. 1,.,. recessive HG002 HG002 chr21:16971663:T:TTATATAATATACTTTA 2,.,. 0.000206881 4 20 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr21:16972022:T:A 2,.,. 0.000488885 1 34 -1 -1 -1 37,.,. 1,.,. recessive HG002 HG002 chr21:16972957:A:C 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr21:16972958:C:A 2,.,. 0.000296068 0 5 0.00140154 2 4 38,.,. 1,.,. recessive HG002 HG002 chr21:16972979:T:A 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr21:16972980:TACTA:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr21:16972992:TATATTA:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr21:17115882:C:T 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. recessive HG002 HG002 chr21:17297006:T:G 2,.,. 0.00153374 0 1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr21:17297007:G:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr21:17297008:T:A 2,.,. 6.57575e-06 0 1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr21:17337719:T:TAC 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr21:17478357:A:AATTT 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.457143,.,. recessive HG002 HG002 chr21:17720332:T:C 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chr21:17789264:C:A 1,.,. -1 -1 -1 -1 -1 -1 C21orf91 36_3_prime_utr 53,.,. 0.490566,.,. C21orf91/3_prime_utr/ENST00000284881 0.0000 0.7578 1.1370 6 dominant HG002 HG002 chr21:17792942:ACT:A 1,.,. -1 -1 -1 -1 -1 -1 C21orf91 36_3_prime_utr 54,.,. 0.574074,.,. C21orf91/3_prime_utr/ENST00000284881;C21orf91/3_prime_utr/ENST00000400559 0.0000 0.7578 1.1370 6 dominant HG002 HG002 chr21:17792946:A:C 1,.,. -1 -1 -1 -1 -1 -1 C21orf91 36_3_prime_utr 55,.,. 0.563636,.,. C21orf91/3_prime_utr/ENST00000284881;C21orf91/3_prime_utr/ENST00000400559 0.0000 0.7578 1.1370 6 dominant HG002 HG002 chr21:18081704:G:A 1,.,. -1 -1 -1 -1 -1 -1 CHODL 50_intron 42,.,. 0.47619,.,. CHODL/intron/ 0.0000 0.9181 1.3010 7 dominant HG002 HG002 chr21:18432291:T:A 1,.,. -1 -1 -1 -1 -1 -1 TMPRSS15 50_intron 43,.,. 0.348837,.,. TMPRSS15/intron/ 0.0000 0.9524 1.1200 6 Enterokinase deficiency 0.000 dominant HG002 HG002 chr21:18524917:A:G 1,.,. 2.62905e-05 0 4 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr21:18525763:T:C 1,.,. 2.62961e-05 0 4 -1 -1 -1 45,.,. 0.466667,.,. dominant HG002 HG002 chr21:18686295:A:AT 1,.,. 2.62802e-05 0 4 -1 -1 -1 38,.,. 0.605263,.,. dominant HG002 HG002 chr21:18822154:T:C 1,.,. 2.63026e-05 0 4 -1 -1 -1 44,.,. 0.409091,.,. dominant HG002 HG002 chr21:18827975:T:TTTTA 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.525,.,. dominant HG002 HG002 chr21:18827991:T:TTTTA 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr21:19023172:TAAAATAATAAAATAA:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. recessive HG002 HG002 chr21:19689223:T:G 2,.,. 0.000433189 0 65 0.000700771 0 2 34,.,. 1,.,. recessive HG002 HG002 chr21:19889018:C:G 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr21:19889019:C:CCTGGGGACATT 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chr21:19889020:G:T 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chr21:20289156:G:GAAGGA 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.424242,.,. dominant HG002 HG002 chr21:20516389:T:C 1,.,. 6.61603e-06 0 1 -1 -1 -1 48,.,. 0.479167,.,. dominant HG002 HG002 chr21:20536077:G:T 1,.,. -1 -1 -1 0.00140154 0 4 49,.,. 0.571429,.,. recessive HG002 HG002 chr21:20588686:T:A 2,.,. -1 -1 -1 -1 -1 -1 36,.,. 1,.,. dominant HG002 HG002 chr21:20946207:T:C 1,.,. -1 -1 -1 -1 -1 -1 57,.,. 0.385965,.,. recessive HG002 HG002 chr21:21032948:T:C 2,.,. 0.000220426 0 3 -1 -1 -1 NCAM2 50_intron 48,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21032963:A:G 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 48,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21093021:AAC:A 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 37,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21093024:T:C 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 37,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21119569:T:TAC 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 49,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21119570:C:A 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 49,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21221226:T:C 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 46,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21221227:C:T 2,.,. 1.97042e-05 0 3 -1 -1 -1 NCAM2 50_intron 46,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21408940:A:T 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 38,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21408948:GATA:G 2,.,. 6.62138e-06 0 1 -1 -1 -1 NCAM2 50_intron 38,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21408954:A:C 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 38,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21408959:A:G 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 38,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21408961:T:A 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 38,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21408963:G:A 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 38,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21408964:A:AG 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 38,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21408967:T:A 2,.,. 4.20196e-05 0 5 -1 -1 -1 NCAM2 50_intron 38,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21408968:TG:T 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 38,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21408971:T:A 2,.,. 5.04346e-05 0 6 -1 -1 -1 NCAM2 50_intron 38,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21408981:A:C 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 38,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21408982:G:C 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 38,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21408985:T:G 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 38,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 recessive HG002 HG002 chr21:21408987:CAGTAATAAA:C 2,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 38,.,. 1,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 dominant HG002 HG002 chr21:21465560:C:T 1,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 43,.,. 0.674419,.,. NCAM2/intron/;NCAM2/non_coding/ 1.0000 0.2891 0.4130 1 dominant HG002 HG002 chr21:21524438:A:C 1,.,. -1 -1 -1 -1 -1 -1 NCAM2 50_intron 38,.,. 0.394737,.,. NCAM2/intron/ 1.0000 0.2891 0.4130 1 dominant HG002 HG002 chr21:22651950:TATATATCTACAC:T 1,.,. -1 -1 -1 -1 -1 -1 52,.,. 0.403846,.,. dominant HG002 HG002 chr21:22796724:T:TTTTC 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.25,.,. dominant HG002 HG002 chr21:22812984:T:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr21:22812987:A:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr21:22812988:A:T 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.565217,.,. dominant HG002 HG002 chr21:23076257:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. dominant HG002 HG002 chr21:23115558:T:G 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.456522,.,. recessive HG002 HG002 chr21:23199203:G:A 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr21:23558303:A:AAT 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.462963,.,. dominant HG002 HG002 chr21:23559405:AAAACAAACAAACAAAC:A 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.72,.,. dominant HG002 HG002 chr21:23559425:C:A 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.44,.,. dominant HG002 HG002 chr21:23603105:G:A 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.463415,.,. dominant HG002 HG002 chr21:23603107:G:GAAGAGA 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.487179,.,. dominant HG002 HG002 chr21:23610692:A:G 1,.,. -1 -1 -1 -1 -1 -1 50,.,. 0.44,.,. dominant HG002 HG002 chr21:23612647:A:G 1,.,. 0.0046729 0 1 -1 -1 -1 47,.,. 0.468085,.,. dominant HG002 HG002 chr21:23612648:G:T 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.458333,.,. dominant HG002 HG002 chr21:23689897:C:T 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.545455,.,. recessive HG002 HG002 chr21:23731863:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr21:23731865:C:A 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chr21:23731866:T:C 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chr21:24627673:T:G 1,.,. 0.000100881 0 3 -1 -1 -1 44,.,. 0.5,.,. recessive HG002 HG002 chr21:25950031:C:A 2,.,. -1 -1 -1 -1 -1 -1 APP 50_intron 42,.,. 1,.,. APP/intron/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 recessive HG002 HG002 chr21:25950032:A:G 2,.,. -1 -1 -1 -1 -1 -1 APP 50_intron 42,.,. 1,.,. APP/intron/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 recessive HG002 HG002 chr21:25950033:G:C 2,.,. -1 -1 -1 -1 -1 -1 APP 50_intron 42,.,. 1,.,. APP/intron/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 recessive HG002 HG002 chr21:25959014:TTG:T 2,.,. -1 -1 -1 -1 -1 -1 APP 50_intron 44,.,. 1,.,. APP/intron/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 recessive HG002 HG002 chr21:25959017:A:G 2,.,. -1 -1 -1 -1 -1 -1 APP 50_intron 44,.,. 1,.,. APP/intron/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 recessive HG002 HG002 chr21:25979850:G:T 2,.,. -1 -1 -1 -1 -1 -1 APP 50_intron 45,.,. 1,.,. APP/intron/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 recessive HG002 HG002 chr21:25979880:G:GATT 2,.,. -1 -1 -1 -1 -1 -1 APP 50_intron 44,.,. 1,.,. APP/intron/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 recessive HG002 HG002 chr21:25979883:T:A 2,.,. -1 -1 -1 -1 -1 -1 APP 50_intron 44,.,. 1,.,. APP/intron/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 dominant HG002 HG002 chr21:25980676:AAAC:A 1,.,. -1 -1 -1 -1 -1 -1 APP 50_intron 45,.,. 0.422222,.,. APP/intron/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 dominant HG002 HG002 chr21:25980683:A:C 1,.,. -1 -1 -1 -1 -1 -1 APP 50_intron 45,.,. 0.444444,.,. APP/intron/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 dominant HG002 HG002 chr21:25980684:C:A 1,.,. -1 -1 -1 0.00105116 0 3 APP 50_intron 44,.,. 0.477273,.,. APP/intron/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 recessive HG002 HG002 chr21:26019655:TTC:T 2,.,. -1 -1 -1 -1 -1 -1 APP 50_intron 42,.,. 1,.,. APP/intron/;APP/non_coding/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 recessive HG002 HG002 chr21:26019658:A:C 2,.,. -1 -1 -1 -1 -1 -1 APP 50_intron 41,.,. 1,.,. APP/intron/;APP/non_coding/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 recessive HG002 HG002 chr21:26019664:AAT:A 2,.,. 0.00261097 0 2 -1 -1 -1 APP 50_intron 42,.,. 1,.,. APP/intron/;APP/non_coding/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 recessive HG002 HG002 chr21:26019667:G:T 2,.,. -1 -1 -1 -1 -1 -1 APP 50_intron 42,.,. 1,.,. APP/intron/;APP/non_coding/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 recessive HG002 HG002 chr21:26043831:G:GGC 2,.,. -1 -1 -1 -1 -1 -1 APP 50_intron 38,.,. 1,.,. APP/intron/;APP/non_coding/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 recessive HG002 HG002 chr21:26043832:C:T 2,.,. 6.57255e-06 0 1 -1 -1 -1 APP 50_intron 38,.,. 1,.,. APP/intron/;APP/non_coding/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 dominant HG002 HG002 chr21:26062226:A:AACAC 1,.,. -1 -1 -1 -1 -1 -1 APP 50_intron 44,.,. 0.409091,.,. APP/intron/;APP/non_coding/ 1.0000 0.3025 0.4100 1 Cerebral amyloid angiopathy, APP-related;Alzheimer disease type 1 0.000 dominant HG002 HG002 chr21:26311660:C:T 1,.,. -1 -1 -1 0.00140154 0 4 32,.,. 0.375,.,. dominant HG002 HG002 chr21:26579428:T:G 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.395833,.,. dominant HG002 HG002 chr21:26832192:T:C 1,.,. 6.56901e-06 0 1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr21:26832393:G:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr21:27023999:G:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.540541,.,. dominant HG002 HG002 chr21:27024000:T:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr21:27024001:A:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.552632,.,. dominant HG002 HG002 chr21:27172835:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.555556,.,. dominant HG002 HG002 chr21:28067057:G:A 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.52381,.,. recessive HG002 HG002 chr21:28543759:TGTA:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr21:28543763:T:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. dominant HG002 HG002 chr21:28603884:G:T 1,.,. 1.31422e-05 0 2 -1 -1 -1 38,.,. 0.578947,.,. dominant HG002 HG002 chr21:28943983:G:A 1,.,. -1 -1 -1 -1 -1 -1 LTN1 50_intron 46,.,. 0.521739,.,. LTN1/intron/ 0.9949 0.3670 0.4710 1 dominant HG002 HG002 chr21:29151705:C:CT 1,.,. 6.57307e-06 0 1 -1 -1 -1 MAP3K7CL 50_intron 50,.,. 0.52,.,. MAP3K7CL/intron/;MAP3K7CL/non_coding/ 0.0013 0.7661 1.2990 7 dominant HG002 HG002 chr21:29214144:CACACAG:C 1,.,. -1 -1 -1 -1 -1 -1 BACH1 50_intron 42,.,. 0.52381,.,. BACH1/intron/ 0.0000 0.6253 0.8360 3 dominant HG002 HG002 chr21:29381352:A:G 1,.,. 1.31368e-05 0 2 -1 -1 -1 BACH1 50_intron 50,.,. 0.5,.,. BACH1/intron/ 0.0000 0.6253 0.8360 3 dominant HG002 HG002 chr21:29697924:C:CTCTTTCTTTCTTTCTT 1,.,. -1 -1 -1 -1 -1 -1 GRIK1 50_intron 45,.,. 0.311111,.,. GRIK1/intron/;GRIK1/non_coding/ 0.0012 0.5492 0.8060 3 dominant HG002 HG002 chr21:29861579:T:C 1,.,. -1 -1 -1 -1 -1 -1 GRIK1 50_intron 48,.,. 0.4375,.,. GRIK1/intron/;GRIK1/non_coding/ 0.0012 0.5492 0.8060 3 dominant HG002 HG002 chr21:29867811:A:AGAAAGAAAGAAT 1,.,. 8.14969e-06 0 1 -1 -1 -1 GRIK1 50_intron 39,.,. 0.358974,.,. GRIK1/intron/;GRIK1/non_coding/ 0.0012 0.5492 0.8060 3 dominant HG002 HG002 chr21:29868026:A:C 1,.,. -1 -1 -1 -1 -1 -1 GRIK1 50_intron 39,.,. 0.487179,.,. GRIK1/intron/;GRIK1/non_coding/ 0.0012 0.5492 0.8060 3 recessive HG002 HG002 chr21:30249522:GGTTGAAA:G 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr21:30249530:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chr21:30249531:T:A 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. dominant HG002 HG002 chr21:30701785:T:TGTGA 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.363636,.,. recessive HG002 HG002 chr21:30704012:T:TTC 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr21:30704014:C:T 2,.,. -1 -1 -1 -1 -1 -1 44,.,. 1,.,. dominant HG002 HG002 chr21:30816277:T:TTC 1,.,. -1 -1 -1 -1 -1 -1 46,.,. 0.5,.,. dominant HG002 HG002 chr21:30869411:ATATATATATATATATAC:A 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.447368,.,. dominant HG002 HG002 chr21:31044451:A:C 1,.,. 1.98046e-05 0 3 -1 -1 -1 42,.,. 0.452381,.,. recessive HG002 HG002 chr21:31148956:CTTTTTCTT:C 2,.,. 3.46693e-05 0 1 -1 -1 -1 TIAM1 50_intron 30,.,. 1,.,. TIAM1/intron/ 0.9906 0.3800 0.4690 1 Neurodevelopmental disorder with language delay and seizures 0.000 dominant HG002 HG002 chr21:31227490:T:C 1,.,. 1.31418e-05 0 2 -1 -1 -1 TIAM1 50_intron 36,.,. 0.555556,.,. TIAM1/intron/;TIAM1/non_coding/ 0.9906 0.3800 0.4690 1 Neurodevelopmental disorder with language delay and seizures 0.000 dominant HG002 HG002 chr21:31365397:T:C 1,.,. 6.69676e-06 0 1 -1 -1 -1 TIAM1 50_intron 30,.,. 0.366667,.,. TIAM1/intron/;TIAM1/non_coding/ 0.9906 0.3800 0.4690 1 Neurodevelopmental disorder with language delay and seizures 0.000 dominant HG002 HG002 chr21:31453690:G:A 1,.,. -1 -1 -1 -1 -1 -1 TIAM1 50_intron 31,.,. 0.387097,.,. TIAM1/intron/;TIAM1/non_coding/ 0.9906 0.3800 0.4690 1 Neurodevelopmental disorder with language delay and seizures 0.000 recessive HG002 HG002 chr21:31597267:CTTCTTCCTTCCTTCCTTCCT:C 2,.,. -1 -1 -1 0.0189208 3 54 18,.,. 1,.,. dominant HG002 HG002 chr21:31812283:A:ACCC 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr21:31812285:C:A 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr21:31812286:T:G 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr21:31812287:G:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. recessive HG002 HG002 chr21:32054607:ACTTGCTTC:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr21:32054618:T:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr21:32054619:C:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr21:32109149:A:C 2,.,. 0.00231308 0 328 0.0234758 1 67 33,.,. 1,.,. recessive HG002 HG002 chr21:32342652:G:GTCACCA 2,.,. -1 -1 -1 -1 -1 -1 URB1 50_intron 37,.,. 1,.,. URB1/intron/ 0.0000 0.8073 0.9130 4 recessive HG002 HG002 chr21:32342653:C:T 2,.,. -1 -1 -1 -1 -1 -1 URB1 50_intron 37,.,. 1,.,. URB1/intron/ 0.0000 0.8073 0.9130 4 recessive HG002 HG002 chr21:32342657:A:G 2,.,. 2.03707e-05 0 3 -1 -1 -1 URB1 50_intron 37,.,. 1,.,. URB1/intron/ 0.0000 0.8073 0.9130 4 recessive HG002 HG002 chr21:32342658:G:A 2,.,. -1 -1 -1 -1 -1 -1 URB1 50_intron 37,.,. 1,.,. URB1/intron/ 0.0000 0.8073 0.9130 4 recessive HG002 HG002 chr21:32342674:C:CTGAT 2,.,. -1 -1 -1 -1 -1 -1 URB1 50_intron 35,.,. 1,.,. URB1/intron/ 0.0000 0.8073 0.9130 4 recessive HG002 HG002 chr21:32342675:A:G 2,.,. -1 -1 -1 -1 -1 -1 URB1 50_intron 35,.,. 1,.,. URB1/intron/ 0.0000 0.8073 0.9130 4 recessive HG002 HG002 chr21:32342697:G:C 2,.,. -1 -1 -1 -1 -1 -1 URB1 50_intron 36,.,. 1,.,. URB1/intron/ 0.0000 0.8073 0.9130 4 recessive HG002 HG002 chr21:32342709:G:C 2,.,. -1 -1 -1 -1 -1 -1 URB1 50_intron 37,.,. 1,.,. URB1/intron/ 0.0000 0.8073 0.9130 4 dominant HG002 HG002 chr21:32475897:A:C 1,.,. -1 -1 -1 -1 -1 -1 CFAP298-TCP10L;EVA1C 50_intron 22,.,. 0.5,.,. CFAP298-TCP10L/intron/;EVA1C/non_coding/;EVA1C/intron/ 0.0000;;0.0000 0.7718;;0.6351 1.0320;;0.9000 5;;4 recessive HG002 HG002 chr21:32678627:AAT:A 2,.,. -1 -1 -1 -1 -1 -1 SYNJ1 50_intron 51,.,. 1,.,. SYNJ1/intron/ 0.0018 0.4380 0.5390 1 Early-onset Parkinson disease 20;Developmental and epileptic encephalopathy, 53 0.000 recessive HG002 HG002 chr21:32678632:A:T 2,.,. -1 -1 -1 -1 -1 -1 SYNJ1 50_intron 51,.,. 1,.,. SYNJ1/intron/ 0.0018 0.4380 0.5390 1 Early-onset Parkinson disease 20;Developmental and epileptic encephalopathy, 53 0.000 dominant HG002 HG002 chr21:32837423:A:T 1,.,. 1.97039e-05 0 3 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chr21:32982773:ACT:A 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr21:32982776:A:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.413793,.,. dominant HG002 HG002 chr21:33013022:C:T 1,.,. 1.9713e-05 0 3 -1 -1 -1 34,.,. 0.588235,.,. dominant HG002 HG002 chr21:33188267:T:C 1,.,. 1.31486e-05 0 2 -1 -1 -1 40,.,. 0.525,.,. recessive HG002 HG002 chr21:33319236:T:A 2,.,. 0.000494854 0 5 -1 -1 -1 35,.,. 1,.,. recessive HG002 HG002 chr21:33338387:C:T 2,.,. -1 -1 -1 -1 -1 -1 IFNAR1 50_intron 38,.,. 1,.,. IFNAR1/intron/ 0.0002 1.0653 1.7300 8 Immunodeficiency 106, susceptibility to viral infections 0.000 dominant HG002 HG002 chr21:33413018:G:GCCAGA 1,.,. -1 -1 -1 -1 -1 -1 IFNGR2 50_intron 27,.,. 0.518519,.,. IFNGR2/intron/ 0.4486 0.3963 0.6100 2 Immunodeficiency 28 0.000 dominant HG002 HG002 chr21:33413020:G:A 1,.,. 2.62771e-05 0 4 -1 -1 -1 IFNGR2 50_intron 27,.,. 0.518519,.,. IFNGR2/intron/ 0.4486 0.3963 0.6100 2 Immunodeficiency 28 0.000 dominant HG002 HG002 chr21:33421826:G:A 1,.,. -1 -1 -1 -1 -1 -1 IFNGR2 50_intron 40,.,. 0.575,.,. IFNGR2/intron/ 0.4486 0.3963 0.6100 2 Immunodeficiency 28 0.000 dominant HG002 HG002 chr21:33432309:A:G 1,.,. -1 -1 -1 -1 -1 -1 IFNGR2 14_missense 44,.,. 0.454545,.,. IFNGR2/missense/ENST00000290219;IFNGR2/missense/ENST00000381995;IFNGR2/missense/ENST00000405436;IFNGR2/3_prime_utr&NMD_transcript/ENST00000545369 0.4486 0.3963 0.6100 2 Immunodeficiency 28 0.000 recessive HG002 HG002 chr21:34086837:G:GGA 2,.,. -1 -1 -1 -1 -1 -1 MRPS6 50_intron 41,.,. 1,.,. MRPS6/non_coding/;MRPS6/intron/ 0.0814 0.5254 1.0370 5 recessive HG002 HG002 chr21:34086838:A:G 2,.,. -1 -1 -1 -1 -1 -1 MRPS6 50_intron 41,.,. 1,.,. MRPS6/non_coding/;MRPS6/intron/ 0.0814 0.5254 1.0370 5 recessive HG002 HG002 chr21:34088683:A:C 2,.,. -1 -1 -1 -1 -1 -1 MRPS6 50_intron 45,.,. 1,.,. MRPS6/non_coding/;MRPS6/intron/ 0.0814 0.5254 1.0370 5 recessive HG002 HG002 chr21:34091265:CCG:C 2,.,. 0.021978 0 4 -1 -1 -1 MRPS6 50_intron 51,.,. 1,.,. MRPS6/non_coding/;MRPS6/intron/ 0.0814 0.5254 1.0370 5 recessive HG002 HG002 chr21:34091268:C:G 2,.,. -1 -1 -1 -1 -1 -1 MRPS6 50_intron 52,.,. 1,.,. MRPS6/non_coding/;MRPS6/intron/ 0.0814 0.5254 1.0370 5 dominant HG002 HG002 chr21:34157169:A:AGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.366667,.,. recessive HG002 HG002 chr21:34297564:G:T 2,.,. 0.00258398 0 2 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr21:34297566:A:G 2,.,. 0.0011655 0 1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr21:34297568:C:A 2,.,. 0.0238095 0 1 -1 -1 -1 38,.,. 1,.,. dominant HG002 HG002 chr21:34558627:CAACTT:C 1,.,. 1.12322e-05 0 1 -1 -1 -1 RCAN1 50_intron 38,.,. 0.5,.,. RCAN1/intron/;RCAN1/non_coding/ 0.0153 0.5459 0.9040 4 dominant HG002 HG002 chr21:35285149:T:C 1,.,. -1 -1 -1 -1 -1 -1 RUNX1 50_intron 47,.,. 0.531915,.,. RUNX1/intron/ 0.2923 0.4111 0.6330 2 Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 0.000 dominant HG002 HG002 chr21:35647624:TTTTTCCTG:T 1,.,. -1 -1 -1 -1 -1 -1 RUNX1 50_intron 36,.,. 0.388889,.,. RUNX1/intron/ 0.2923 0.4111 0.6330 2 Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 0.000 dominant HG002 HG002 chr21:35647634:T:C 1,.,. -1 -1 -1 -1 -1 -1 RUNX1 50_intron 35,.,. 0.4,.,. RUNX1/intron/ 0.2923 0.4111 0.6330 2 Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 0.000 dominant HG002 HG002 chr21:35647637:C:T 1,.,. -1 -1 -1 -1 -1 -1 RUNX1 50_intron 31,.,. 0.483871,.,. RUNX1/intron/ 0.2923 0.4111 0.6330 2 Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 0.000 recessive HG002 HG002 chr21:36167940:C:T 2,.,. -1 -1 -1 -1 -1 -1 DOP1B 50_intron 43,.,. 1,.,. DOP1B/intron/;DOP1B/non_coding/ 0.0000 0.7296 0.8310 3 dominant HG002 HG002 chr21:36755138:T:A 1,.,. -1 -1 -1 -1 -1 -1 HLCS 50_intron 26,.,. 0.423077,.,. HLCS/intron/ 0.0000 0.6939 0.8830 4 Holocarboxylase synthetase deficiency 0.000 dominant HG002 HG002 chr21:36755140:T:C 1,.,. -1 -1 -1 -1 -1 -1 HLCS 50_intron 26,.,. 0.423077,.,. HLCS/intron/ 0.0000 0.6939 0.8830 4 Holocarboxylase synthetase deficiency 0.000 dominant HG002 HG002 chr21:36755141:A:AAAGTGCTAAGTCCC 1,.,. -1 -1 -1 -1 -1 -1 HLCS 50_intron 26,.,. 0.423077,.,. HLCS/intron/ 0.0000 0.6939 0.8830 4 Holocarboxylase synthetase deficiency 0.000 dominant HG002 HG002 chr21:36833593:T:A 1,.,. 7.14255e-06 0 1 -1 -1 -1 HLCS 50_intron 28,.,. 0.571429,.,. HLCS/intron/ 0.0000 0.6939 0.8830 4 Holocarboxylase synthetase deficiency 0.000 recessive HG002 HG002 chr21:36879124:C:A 2,.,. -1 -1 -1 -1 -1 -1 HLCS 50_intron 39,.,. 1,.,. HLCS/intron/ 0.0000 0.6939 0.8830 4 Holocarboxylase synthetase deficiency 0.000 recessive HG002 HG002 chr21:36879156:T:A 2,.,. -1 -1 -1 -1 -1 -1 HLCS 50_intron 40,.,. 1,.,. HLCS/intron/ 0.0000 0.6939 0.8830 4 Holocarboxylase synthetase deficiency 0.000 recessive HG002 HG002 chr21:36879157:A:T 2,.,. -1 -1 -1 -1 -1 -1 HLCS 50_intron 40,.,. 1,.,. HLCS/intron/ 0.0000 0.6939 0.8830 4 Holocarboxylase synthetase deficiency 0.000 recessive HG002 HG002 chr21:36879158:T:A 2,.,. -1 -1 -1 -1 -1 -1 HLCS 50_intron 40,.,. 1,.,. HLCS/intron/ 0.0000 0.6939 0.8830 4 Holocarboxylase synthetase deficiency 0.000 dominant HG002 HG002 chr21:36958249:A:AAAAG 1,.,. -1 -1 -1 -1 -1 -1 HLCS 50_intron 30,.,. 0.4,.,. HLCS/intron/ 0.0000 0.6939 0.8830 4 Holocarboxylase synthetase deficiency 0.000 dominant HG002 HG002 chr21:36973063:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 HLCS 50_intron 30,.,. 0.533333,.,. HLCS/intron/ 0.0000 0.6939 0.8830 4 Holocarboxylase synthetase deficiency 0.000 recessive HG002 HG002 chr21:37206261:GGT:G 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr21:37206264:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chr21:37212911:G:GAGAA 2,.,. 6.85429e-06 0 1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr21:37300448:TGA:T 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr21:37308534:A:T 2,.,. -1 -1 -1 -1 -1 -1 47,.,. 1,.,. dominant HG002 HG002 chr21:37325538:C:G 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.392857,.,. dominant HG002 HG002 chr21:37351612:A:T 1,.,. 6.57229e-06 0 1 -1 -1 -1 43,.,. 0.395349,.,. recessive HG002 HG002 chr21:37614504:G:GTGTGTGTATGCA 2,.,. 1.40677e-05 0 2 -1 -1 -1 KCNJ6 36_3_prime_utr 45,.,. 1,.,. KCNJ6/3_prime_utr/ENST00000609713 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 recessive HG002 HG002 chr21:37616590:CATATATAT:C 2,.,. 0.00018699 3 17 -1 -1 -1 KCNJ6 36_3_prime_utr 45,.,. 1,.,. KCNJ6/3_prime_utr/ENST00000609713 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 recessive HG002 HG002 chr21:37616599:A:T 2,.,. 0.00122386 3 57 -1 -1 -1 KCNJ6 36_3_prime_utr 47,.,. 1,.,. KCNJ6/3_prime_utr/ENST00000609713 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 recessive HG002 HG002 chr21:37665751:G:C 2,.,. -1 -1 -1 -1 -1 -1 KCNJ6 50_intron 41,.,. 1,.,. KCNJ6/intron/ 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 recessive HG002 HG002 chr21:37665753:C:G 2,.,. -1 -1 -1 -1 -1 -1 KCNJ6 50_intron 41,.,. 1,.,. KCNJ6/intron/ 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 recessive HG002 HG002 chr21:37665754:G:C 2,.,. 5.9066e-05 0 9 -1 -1 -1 KCNJ6 50_intron 41,.,. 1,.,. KCNJ6/intron/ 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 dominant HG002 HG002 chr21:37709528:G:A 1,.,. -1 -1 -1 -1 -1 -1 KCNJ6 50_intron 24,.,. 0.666667,.,. KCNJ6/intron/ 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 dominant HG002 HG002 chr21:37818201:T:TGTGTGTGTGTGC 1,.,. -1 -1 -1 -1 -1 -1 KCNJ6 50_intron 36,.,. 0.388889,.,. KCNJ6/intron/ 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 recessive HG002 HG002 chr21:37847408:C:G 2,.,. -1 -1 -1 -1 -1 -1 KCNJ6 50_intron 41,.,. 1,.,. KCNJ6/intron/ 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 recessive HG002 HG002 chr21:37847409:A:C 2,.,. -1 -1 -1 -1 -1 -1 KCNJ6 50_intron 41,.,. 1,.,. KCNJ6/intron/ 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 recessive HG002 HG002 chr21:37847410:G:A 2,.,. -1 -1 -1 -1 -1 -1 KCNJ6 50_intron 41,.,. 1,.,. KCNJ6/intron/ 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 recessive HG002 HG002 chr21:38058356:C:G 2,.,. -1 -1 -1 -1 -1 -1 KCNJ6 50_intron 36,.,. 1,.,. KCNJ6/intron/ 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 recessive HG002 HG002 chr21:38058357:A:C 2,.,. -1 -1 -1 -1 -1 -1 KCNJ6 50_intron 36,.,. 1,.,. KCNJ6/intron/ 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 recessive HG002 HG002 chr21:38058359:C:T 2,.,. -1 -1 -1 -1 -1 -1 KCNJ6 50_intron 36,.,. 1,.,. KCNJ6/intron/ 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 recessive HG002 HG002 chr21:38058360:T:C 2,.,. -1 -1 -1 -1 -1 -1 KCNJ6 50_intron 36,.,. 1,.,. KCNJ6/intron/ 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 dominant HG002 HG002 chr21:38090096:ATCTTCTAGT:A 1,.,. -1 -1 -1 -1 -1 -1 KCNJ6 50_intron 42,.,. 0.5,.,. KCNJ6/intron/ 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 dominant HG002 HG002 chr21:38090106:T:A 1,.,. -1 -1 -1 -1 -1 -1 KCNJ6 50_intron 42,.,. 0.5,.,. KCNJ6/intron/ 0.9892 0.2764 0.4820 1 Keppen-Lubinsky syndrome 0.000 dominant HG002 HG002 chr21:39046993:A:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.361111,.,. dominant HG002 HG002 chr21:39046994:GTGCA:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.361111,.,. recessive HG002 HG002 chr21:39204004:A:T 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204007:T:G 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 51,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204009:G:T 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204011:C:G 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204015:G:T 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204018:G:T 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204030:A:G 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204031:A:T 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204034:C:T 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204036:A:C 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204040:A:C 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204041:C:T 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204047:A:G 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204050:C:G 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204053:A:T 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204056:C:G 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204057:A:G 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204060:A:G 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204063:A:G 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204066:G:T 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204070:G:T 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204071:A:T 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204076:C:CTG 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 51,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204081:A:T 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204087:A:G 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204088:G:T 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204093:C:G 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204094:A:T 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 recessive HG002 HG002 chr21:39204099:A:C 2,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 52,.,. 1,.,. BRWD1/intron/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 dominant HG002 HG002 chr21:39279649:AAAAAAAAG:A 1,.,. -1 -1 -1 0.00105116 0 3 BRWD1 50_intron 45,.,. 0.466667,.,. BRWD1/intron/;BRWD1/non_coding/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 dominant HG002 HG002 chr21:39279664:A:G 1,.,. -1 -1 -1 -1 -1 -1 BRWD1 50_intron 45,.,. 0.577778,.,. BRWD1/intron/;BRWD1/non_coding/ 0.9999 0.3682 0.4470 1 Ciliary dyskinesia, primary, 51 dominant HG002 HG002 chr21:39566116:G:T 1,.,. 6.58094e-06 0 1 -1 -1 -1 B3GALT5 50_intron 52,.,. 0.557692,.,. B3GALT5/intron/ 0.3165 0.0000 1.8680 9 dominant HG002 HG002 chr21:39623233:C:CCCTTCCTT 1,.,. -1 -1 -1 -1 -1 -1 B3GALT5 50_intron 24,.,. 0.375,.,. B3GALT5/intron/ 0.3165 0.0000 1.8680 9 dominant HG002 HG002 chr21:39623989:T:A 1,.,. 2.62774e-05 0 4 -1 -1 -1 B3GALT5 50_intron 29,.,. 0.413793,.,. B3GALT5/intron/ 0.3165 0.0000 1.8680 9 dominant HG002 HG002 chr21:39719431:G:GGTGCCTGTGTTGTAAATCATGTTCTGGAGGTGACCTCATTTCCTTGGAGGCTTCCTCTGGGTCAGGTCAGGCATATGATGAATCACTAGGCT 1,.,. -1 -1 -1 0.000700771 0 2 40,.,. 0.45,.,. recessive HG002 HG002 chr21:39746688:C:T 2,.,. 0.000120091 0 2 -1 -1 -1 IGSF5 50_intron 41,.,. 1,.,. IGSF5/intron/ 0.0000 1.0813 1.4660 8 dominant HG002 HG002 chr21:39844883:A:AAG 1,.,. 2.80426e-05 0 1 -1 -1 -1 31,.,. 0.451613,.,. recessive HG002 HG002 chr21:39982335:A:AGCAGGATCTCT 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr21:39982337:A:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr21:39982338:G:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chr21:39982339:C:A 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr21:40032487:G:A 1,.,. -1 -1 -1 -1 -1 -1 DSCAM 50_intron 25,.,. 0.48,.,. DSCAM/intron/ 1.0000 0.2196 0.2800 0 dominant HG002 HG002 chr21:40246950:T:C 1,.,. 1.97223e-05 0 3 -1 -1 -1 DSCAM 50_intron 39,.,. 0.615385,.,. DSCAM/intron/ 1.0000 0.2196 0.2800 0 dominant HG002 HG002 chr21:40261650:T:TACAC 1,.,. -1 -1 -1 -1 -1 -1 DSCAM 50_intron 34,.,. 0.5,.,. DSCAM/intron/ 1.0000 0.2196 0.2800 0 dominant HG002 HG002 chr21:40493871:AAAAAAAAAAT:A 1,.,. -1 -1 -1 -1 -1 -1 DSCAM 50_intron 36,.,. 0.444444,.,. DSCAM/intron/ 1.0000 0.2196 0.2800 0 dominant HG002 HG002 chr21:40622499:A:G 1,.,. 1.31515e-05 0 2 -1 -1 -1 DSCAM 50_intron 40,.,. 0.475,.,. DSCAM/intron/ 1.0000 0.2196 0.2800 0 dominant HG002 HG002 chr21:40637498:A:C 1,.,. 0.00011542 2 4 0.000700771 0 2 DSCAM 50_intron 30,.,. 0.666667,.,. DSCAM/intron/ 1.0000 0.2196 0.2800 0 recessive HG002 HG002 chr21:40767888:T:C 2,.,. 0.000635459 1 96 0.000700771 0 2 DSCAM 50_intron 36,.,. 1,.,. DSCAM/intron/ 1.0000 0.2196 0.2800 0 dominant HG002 HG002 chr21:40913410:C:T 1,.,. 1.70497e-05 0 1 -1 -1 -1 34,.,. 0.470588,.,. dominant HG002 HG002 chr21:40940513:G:GAGAAACTC 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.435897,.,. dominant HG002 HG002 chr21:40940514:T:A 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.45,.,. dominant HG002 HG002 chr21:40957336:A:G 1,.,. 2.63359e-05 0 4 -1 -1 -1 28,.,. 0.428571,.,. dominant HG002 HG002 chr21:40993016:CAAAG:C 1,.,. -1 -1 -1 -1 -1 -1 48,.,. 0.645833,.,. dominant HG002 HG002 chr21:40993022:C:G 1,.,. -1 -1 -1 -1 -1 -1 49,.,. 0.632653,.,. dominant HG002 HG002 chr21:41579225:T:C 1,.,. 1.97078e-05 0 3 -1 -1 -1 35,.,. 0.571429,.,. dominant HG002 HG002 chr21:41852673:C:G 1,.,. 6.57056e-06 0 1 -1 -1 -1 PRDM15 50_intron 23,.,. 0.478261,.,. PRDM15/intron/ 0.0000 0.4910 0.6080 2 dominant HG002 HG002 chr21:42146489:T:TTGGGGAGGAGGGCTGTGGTGGGAGTCACCCCCCGCACTGTGTCTCTGTCCCTCC 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.35,.,. dominant HG002 HG002 chr21:42386776:GGTTA:G 1,.,. -1 -1 -1 -1 -1 -1 TMPRSS3 50_intron 35,.,. 0.342857,.,. TMPRSS3/intron/;TMPRSS3/non_coding/ 0.0000 0.8796 1.1060 6 Autosomal recessive nonsyndromic hearing loss 8 0.000 dominant HG002 HG002 chr21:42405988:G:C 1,.,. -1 -1 -1 -1 -1 -1 UBASH3A 50_intron 41,.,. 0.390244,.,. UBASH3A/intron/;UBASH3A/non_coding/ 0.0000 0.8310 1.0380 5 dominant HG002 HG002 chr21:42809760:CTCACACACATGTACAT:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr21:42809786:C:T 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr21:42836193:AACTT:A 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.4,.,. dominant HG002 HG002 chr21:43357406:T:A 1,.,. 2.4139e-05 0 3 -1 -1 -1 25,.,. 0.48,.,. dominant HG002 HG002 chr21:43740538:G:A 1,.,. 1.31558e-05 0 2 -1 -1 -1 PDXK 50_intron 16,.,. 0.25,.,. PDXK/intron/;PDXK/non_coding/ 0.7710 0.3520 0.5970 2 Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy 0.000 dominant HG002 HG002 chr21:43787285:C:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.47619,.,. dominant HG002 HG002 chr21:44478285:C:T 1,.,. 2.62567e-05 0 4 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr21:44863137:A:ACCACAGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGACACACAGCCCGCCACGGCCTCGGCAACACAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCGGCAACACAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCGGCAACACAGAGACACAGCCCG 1,.,. -1 -1 -1 0.000700771 0 2 PTTG1IP 50_intron 25,.,. 0.48,.,. PTTG1IP/intron/;PTTG1IP/non_coding/ 0.0004 0.6555 1.0090 5 dominant HG002 HG002 chr21:45327849:G:A 1,.,. 2.63165e-05 0 4 -1 -1 -1 12,.,. 0.583333,.,. dominant HG002 HG002 chr21:45327879:T:A 1,.,. -1 -1 -1 -1 -1 -1 12,.,. 0.583333,.,. recessive HG002 HG002 chr21:45437666:T:A 2,.,. 0.000395351 0 10 0.000700771 0 2 COL18A1 50_intron 14,.,. 1,.,. COL18A1/intron/ 0.0000 0.8561 1.0010 5 Knobloch syndrome 1;Hereditary glaucoma, primary closed-angle 0.000 recessive HG002 HG002 chr21:45491466:C:G 2,.,. -1 -1 -1 0.00981079 1 28 COL18A1 50_intron 13,.,. 1,.,. COL18A1/intron/ 0.0000 0.8561 1.0010 5 Knobloch syndrome 1;Hereditary glaucoma, primary closed-angle 0.000 dominant HG002 HG002 chr21:45713479:G:A 1,.,. -1 -1 -1 -1 -1 -1 PCBP3 50_intron 35,.,. 0.514286,.,. PCBP3/intron/;PCBP3/non_coding/ 0.0308 0.4687 0.7030 2 dominant HG002 HG002 chr21:45797273:A:G 1,.,. -1 -1 -1 -1 -1 -1 PCBP3 50_intron 35,.,. 0.514286,.,. PCBP3/intron/ 0.0308 0.4687 0.7030 2 dominant HG002 HG002 chr21:45797351:A:G 1,.,. -1 -1 -1 -1 -1 -1 PCBP3 50_intron 35,.,. 0.514286,.,. PCBP3/intron/ 0.0308 0.4687 0.7030 2 dominant HG002 HG002 chr21:45890893:G:C 1,.,. 6.62857e-06 0 1 0.00105116 0 3 PCBP3 50_intron 22,.,. 0.454545,.,. PCBP3/intron/;PCBP3/non_coding/ 0.0308 0.4687 0.7030 2 recessive HG002 HG002 chr21:45954574:GCTTGA:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chr21:45954581:C:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chr21:46010819:T:C 1,.,. -1 -1 -1 -1 -1 -1 10,.,. 0.3,.,. dominant HG002 HG002 chr21:46035313:G:GCGGTGTGGACGGGCCTCTCCAGTGTGTGCCAGCCTCCAATACCCCCGCATCACCTGCGGTGTGGACGGGCCTCTCCAGTGTGTGCCAGCCTCCAATACCCCCACGTCACCTA 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.363636,.,. dominant HG002 HG002 chr21:46055558:T:C 1,.,. -1 -1 -1 -1 -1 -1 12,.,. 0.666667,.,. dominant HG002 HG002 chr21:46055559:G:T 1,.,. -1 -1 -1 -1 -1 -1 10,.,. 0.7,.,. dominant HG002 HG002 chr21:46055560:C:G 1,.,. -1 -1 -1 -1 -1 -1 11,.,. 0.727273,.,. recessive HG002 HG002 chr21:46257455:T:A 2,.,. -1 -1 -1 -1 -1 -1 MCM3AP 50_intron 34,.,. 1,.,. MCM3AP/intron/;MCM3AP/non_coding/ 0.0000 0.6574 0.7690 3 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 0.000 recessive HG002 HG002 chr21:46257456:A:C 2,.,. -1 -1 -1 -1 -1 -1 MCM3AP 50_intron 34,.,. 1,.,. MCM3AP/intron/;MCM3AP/non_coding/ 0.0000 0.6574 0.7690 3 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 0.000 recessive HG002 HG002 chr21:46257457:C:A 2,.,. -1 -1 -1 -1 -1 -1 MCM3AP 50_intron 34,.,. 1,.,. MCM3AP/intron/;MCM3AP/non_coding/ 0.0000 0.6574 0.7690 3 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 0.000 recessive HG002 HG002 chr21:46328271:C:T 2,.,. 3.43218e-05 0 5 -1 -1 -1 PCNT 50_intron 26,.,. 1,.,. PCNT/non_coding/;PCNT/intron/ 0.0000 0.8563 0.9430 4 Microcephalic osteodysplastic primordial dwarfism type II 0.000 recessive HG002 HG002 chr21:46486096:T:A 2,.,. -1 -1 -1 -1 -1 -1 DIP2A 50_intron 15,.,. 1,.,. DIP2A/intron/ 0.0000 0.5112 0.6170 2 recessive HG002 HG002 chr22:10556714:C:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr22:10568422:T:C 2,.,. -1 -1 -1 0.00455501 0 13 16,.,. 1,.,. recessive HG002 HG002 chr22:10571118:A:T 2,.,. -1 -1 -1 0.00455501 3 13 15,.,. 1,.,. recessive HG002 HG002 chr22:10571440:G:C 2,.,. -1 -1 -1 0.00350385 2 10 17,.,. 1,.,. recessive HG002 HG002 chr22:10571443:A:C 2,.,. -1 -1 -1 0.00455501 2 13 17,.,. 1,.,. recessive HG002 HG002 chr22:10571449:C:T 2,.,. -1 -1 -1 0.00385424 2 11 17,.,. 1,.,. recessive HG002 HG002 chr22:10571659:T:C 2,.,. 0.00911895 4 615 0.00140154 2 4 16,.,. 1,.,. recessive HG002 HG002 chr22:10571960:A:G 2,.,. 2.22916e-05 0 1 0.00140154 2 4 12,.,. 1,.,. recessive HG002 HG002 chr22:10571974:C:T 2,.,. 0.000491368 2 37 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chr22:10572359:C:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr22:10572362:A:G 2,.,. -1 -1 -1 0.00280308 4 8 16,.,. 1,.,. recessive HG002 HG002 chr22:10572368:T:G 2,.,. 0.000273873 0 3 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr22:10572370:T:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr22:10572374:C:T 2,.,. 0.000164285 0 2 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chr22:10572375:G:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chr22:10572377:G:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chr22:10572389:C:T 2,.,. -1 -1 -1 0.00280308 4 8 16,.,. 1,.,. recessive HG002 HG002 chr22:10574646:G:A 2,.,. -1 -1 -1 0.00630694 0 18 13,.,. 1,.,. recessive HG002 HG002 chr22:10578237:G:A 2,.,. -1 -1 -1 0.015417 3 44 13,.,. 1,.,. recessive HG002 HG002 chr22:10579175:C:A 2,.,. -1 -1 -1 0.0140154 3 40 12,.,. 1,.,. recessive HG002 HG002 chr22:10582117:G:T 2,.,. -1 -1 -1 0.01822 1 52 15,.,. 1,.,. recessive HG002 HG002 chr22:10582261:T:C 2,.,. -1 -1 -1 0.0234758 1 67 15,.,. 1,.,. recessive HG002 HG002 chr22:10583675:A:G 2,.,. -1 -1 -1 0.0248774 1 71 16,.,. 1,.,. recessive HG002 HG002 chr22:10584517:A:G 2,.,. -1 -1 -1 0.0280308 2 80 17,.,. 1,.,. recessive HG002 HG002 chr22:10584904:A:C 2,.,. -1 -1 -1 0.00175193 0 5 16,.,. 1,.,. recessive HG002 HG002 chr22:10585148:T:C 2,.,. -1 -1 -1 0.0255781 1 73 18,.,. 1,.,. recessive HG002 HG002 chr22:10585715:C:T 2,.,. -1 -1 -1 0.0168185 1 48 19,.,. 1,.,. recessive HG002 HG002 chr22:10585785:G:A 2,.,. -1 -1 -1 0.0129643 1 37 19,.,. 1,.,. recessive HG002 HG002 chr22:10586875:T:C 2,.,. -1 -1 -1 0.0150666 0 43 20,.,. 1,.,. recessive HG002 HG002 chr22:10588067:T:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chr22:10589415:G:T 2,.,. -1 -1 -1 0.00315347 1 9 22,.,. 1,.,. recessive HG002 HG002 chr22:10614864:T:C 2,.,. -1 -1 -1 0.00350385 2 10 21,.,. 1,.,. recessive HG002 HG002 chr22:10645896:C:T 2,.,. -1 -1 -1 0.024527 4 70 22,.,. 1,.,. recessive HG002 HG002 chr22:10646887:G:A 2,.,. -1 -1 -1 0.0294324 4 84 21,.,. 1,.,. recessive HG002 HG002 chr22:10655409:A:T 2,.,. -1 -1 -1 0.00735809 2 21 16,.,. 1,.,. dominant HG002 HG002 chr22:11247377:T:A 1,.,. -1 -1 -1 0.000700771 0 2 38,.,. 0.552632,.,. dominant HG002 HG002 chr22:11250846:C:T 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chr22:11305592:A:AT 1,.,. -1 -1 -1 0.000700771 0 2 66,.,. 0.378788,.,. recessive HG002 HG002 chr22:11885034:CTG:C 2,.,. 0.000210208 2 22 -1 -1 -1 AC138776.1 53_non_coding 24,.,. 1,.,. AC138776.1/non_coding/ recessive HG002 HG002 chr22:11887492:C:A 2,.,. 0.000198983 2 22 -1 -1 -1 AC138776.1 53_non_coding 25,.,. 1,.,. AC138776.1/non_coding/ recessive HG002 HG002 chr22:11897251:G:A 2,.,. -1 -1 -1 -1 -1 -1 AC138776.1 53_non_coding 27,.,. 1,.,. AC138776.1/non_coding/ dominant HG002 HG002 chr22:12110154:C:G 1,.,. 2.00908e-05 1 2 -1 -1 -1 36,.,. 0.472222,.,. dominant HG002 HG002 chr22:12114457:G:T 1,.,. 1.35029e-05 0 1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr22:15355994:T:C 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr22:15356972:C:T 1,.,. -1 -1 -1 0.00140154 0 4 37,.,. 0.432432,.,. dominant HG002 HG002 chr22:15536622:G:C 1,.,. -1 -1 -1 -1 -1 -1 82,.,. 0.280488,.,. recessive HG002 HG002 chr22:16261075:ATC:A 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr22:16261079:C:T 2,.,. -1 -1 -1 -1 -1 -1 43,.,. 1,.,. recessive HG002 HG002 chr22:16321359:C:T 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. dominant HG002 HG002 chr22:16544547:A:C 1,.,. 6.58675e-06 0 1 -1 -1 -1 47,.,. 0.553191,.,. dominant HG002 HG002 chr22:16558321:A:G 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr22:16799472:A:T 1,.,. -1 -1 -1 -1 -1 -1 XKR3 50_intron 50,.,. 0.5,.,. XKR3/intron/ 0.0000 0.6342 0.8800 4 dominant HG002 HG002 chr22:17298218:T:C 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.518519,.,. dominant HG002 HG002 chr22:17307431:A:AAG 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chr22:17463360:G:A 1,.,. 1.33495e-05 0 2 -1 -1 -1 CECR2 50_intron 23,.,. 0.434783,.,. CECR2/intron/;CECR2/non_coding/ 1.0000 0.1866 0.2590 0 dominant HG002 HG002 chr22:17651393:A:T 1,.,. -1 -1 -1 -1 -1 -1 BCL2L13 50_intron 33,.,. 0.575758,.,. BCL2L13/non_coding/;BCL2L13/intron/ 0.2462 0.4227 0.7380 2 dominant HG002 HG002 chr22:17771783:A:ATGGGCTGGATGG 1,.,. -1 -1 -1 -1 -1 -1 BID 50_intron 18,.,. 0.388889,.,. BID/intron/;BID/non_coding/ 0.0000 1.0616 1.5530 8 dominant HG002 HG002 chr22:17771784:A:G 1,.,. -1 -1 -1 -1 -1 -1 BID 50_intron 18,.,. 0.388889,.,. BID/intron/;BID/non_coding/ 0.0000 1.0616 1.5530 8 dominant HG002 HG002 chr22:17928452:G:A 1,.,. -1 -1 -1 -1 -1 -1 MICAL3 50_intron 44,.,. 0.386364,.,. MICAL3/intron/ 1.0000 0.3179 0.3990 0 recessive HG002 HG002 chr22:17962705:G:T 2,.,. -1 -1 -1 -1 -1 -1 MICAL3 50_intron 26,.,. 1,.,. MICAL3/intron/ 1.0000 0.3179 0.3990 0 dominant HG002 HG002 chr22:18018765:T:TACACACACACACACATACAC 1,.,. -1 -1 -1 -1 -1 -1 MICAL3 50_intron 31,.,. 0.419355,.,. MICAL3/intron/ 1.0000 0.3179 0.3990 0 dominant HG002 HG002 chr22:18018767:T:C 1,.,. -1 -1 -1 -1 -1 -1 MICAL3 50_intron 31,.,. 0.419355,.,. MICAL3/intron/ 1.0000 0.3179 0.3990 0 dominant HG002 HG002 chr22:18018768:C:A 1,.,. 7.23757e-06 0 1 -1 -1 -1 MICAL3 50_intron 31,.,. 0.419355,.,. MICAL3/intron/ 1.0000 0.3179 0.3990 0 dominant HG002 HG002 chr22:18046328:T:A 1,.,. -1 -1 -1 -1 -1 -1 16,.,. 0.375,.,. recessive HG002 HG002 chr22:18578988:T:G 2,.,. -1 -1 -1 0.00315347 3 9 18,.,. 1,.,. recessive HG002 HG002 chr22:18629402:C:A 2,.,. -1 -1 -1 0.00175193 2 5 15,.,. 1,.,. dominant HG002 HG002 chr22:18894609:A:G 1,.,. -1 -1 -1 -1 -1 -1 51,.,. 0.333333,.,. recessive HG002 HG002 chr22:18894801:G:T 2,.,. -1 -1 -1 0.00665732 2 19 30,.,. 1,.,. dominant HG002 HG002 chr22:18894944:ATT:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. dominant HG002 HG002 chr22:18896409:G:C 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.441176,.,. dominant HG002 HG002 chr22:18989554:TTTTG:T 1,.,. -1 -1 -1 -1 -1 -1 DGCR5 53_non_coding 30,.,. 0.333333,.,. DGCR5/non_coding/ dominant HG002 HG002 chr22:19256356:T:C 1,.,. -1 -1 -1 -1 -1 -1 CLTCL1 50_intron 36,.,. 0.416667,.,. CLTCL1/intron/;CLTCL1/non_coding/ 0.0000 0.8694 0.9930 5 0.000 recessive HG002 HG002 chr22:19276017:CCT:C 2,.,. -1 -1 -1 -1 -1 -1 CLTCL1 50_intron 36,.,. 1,.,. CLTCL1/intron/;CLTCL1/non_coding/ 0.0000 0.8694 0.9930 5 0.000 recessive HG002 HG002 chr22:19276021:G:A 2,.,. -1 -1 -1 -1 -1 -1 CLTCL1 50_intron 37,.,. 1,.,. CLTCL1/intron/;CLTCL1/non_coding/ 0.0000 0.8694 0.9930 5 0.000 dominant HG002 HG002 chr22:19600759:A:G 1,.,. 5.89113e-05 0 3 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr22:19600760:AAAAGAAAGAAAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.5,.,. dominant HG002 HG002 chr22:20106762:C:T 1,.,. 1.31377e-05 0 2 -1 -1 -1 DGCR8 50_intron 22,.,. 0.409091,.,. DGCR8/intron/;DGCR8/non_coding/ 1.0000 0.1667 0.2700 0 Velocardiofacial syndrome 0.000 dominant HG002 HG002 chr22:20337145:A:ATATATAT 1,.,. -1 -1 -1 -1 -1 -1 37,.,. 0.486486,.,. dominant HG002 HG002 chr22:20413218:G:A 1,.,. -1 -1 -1 -1 -1 -1 11,.,. 0.363636,.,. dominant HG002 HG002 chr22:20798340:G:A 1,.,. -1 -1 -1 -1 -1 -1 PI4KA 50_intron 37,.,. 0.432432,.,. PI4KA/intron/ 0.0000 0.4591 0.5480 1 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis;Gastrointestinal defects and immunodeficiency syndrome 2;Spastic paraplegia 84, autosomal recessive 0.000 dominant HG002 HG002 chr22:20818585:A:C 1,.,. 6.57281e-06 0 1 -1 -1 -1 PI4KA 50_intron 32,.,. 0.5,.,. PI4KA/intron/;PI4KA/non_coding/ 0.0000 0.4591 0.5480 1 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis;Gastrointestinal defects and immunodeficiency syndrome 2;Spastic paraplegia 84, autosomal recessive 0.000 recessive HG002 HG002 chr22:21083519:G:T 2,.,. -1 -1 -1 0.0168185 3 48 22,.,. 1,.,. dominant HG002 HG002 chr22:22039655:A:G 1,.,. 2.6303e-05 0 4 -1 -1 -1 PRAMENP;IGLV10-54 50_intron 33,.,. 0.515152,.,. PRAMENP/non_coding/;IGLV10-54/intron/ recessive HG002 HG002 chr22:22130448:ATTC:A 2,.,. -1 -1 -1 -1 -1 -1 IGLV10-54 50_intron 56,.,. 0.982143,.,. IGLV10-54/intron/ recessive HG002 HG002 chr22:22130453:T:C 2,.,. -1 -1 -1 -1 -1 -1 IGLV10-54 50_intron 53,.,. 1,.,. IGLV10-54/intron/ dominant HG002 HG002 chr22:22178856:TCCTCTG:T 1,.,. 3.01814e-05 0 2 -1 -1 -1 IGLV10-54 50_intron 39,.,. 0.564103,.,. IGLV10-54/intron/ dominant HG002 HG002 chr22:22178864:T:G 1,.,. 1.53841e-05 0 1 -1 -1 -1 IGLV10-54 50_intron 38,.,. 0.552632,.,. IGLV10-54/intron/ dominant HG002 HG002 chr22:22337730:CAAATAGAT:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr22:22337740:G:C 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.571429,.,. dominant HG002 HG002 chr22:22337742:C:G 1,.,. -1 -1 -1 -1 -1 -1 41,.,. 0.585366,.,. dominant HG002 HG002 chr22:22535343:G:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.473684,.,. dominant HG002 HG002 chr22:22634646:G:A 1,.,. -1 -1 -1 0.000700771 0 2 BCRP4 53_non_coding 17,.,. 0.411765,.,. BCRP4/non_coding/ dominant HG002 HG002 chr22:22687080:A:C 1,.,. 6.58311e-06 0 1 -1 -1 -1 IGLV3-25 14_missense 32,.,. 0.5,.,. IGLV3-25/missense/ENST00000390305 dominant HG002 HG002 chr22:22687132:A:T 1,.,. -1 -1 -1 -1 -1 -1 IGLV3-25 30_synonymous 32,.,. 0.5,.,. IGLV3-25/synonymous/ENST00000390305 dominant HG002 HG002 chr22:22991239:G:T 1,.,. -1 -1 -1 -1 -1 -1 AC245054.1 53_non_coding 33,.,. 0.454545,.,. AC245054.1/non_coding/ dominant HG002 HG002 chr22:23603530:G:T 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.615385,.,. dominant HG002 HG002 chr22:25240053:G:C 1,.,. 1.33158e-05 0 2 -1 -1 -1 28,.,. 0.392857,.,. dominant HG002 HG002 chr22:25258058:A:ATCAGC 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.611111,.,. dominant HG002 HG002 chr22:25308969:C:CGGGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.782609,.,. dominant HG002 HG002 chr22:25507136:T:C 1,.,. -1 -1 -1 -1 -1 -1 CRYBB2P1 53_non_coding 26,.,. 0.461538,.,. CRYBB2P1/non_coding/ dominant HG002 HG002 chr22:25507138:C:A 1,.,. -1 -1 -1 -1 -1 -1 CRYBB2P1 53_non_coding 27,.,. 0.407407,.,. CRYBB2P1/non_coding/ dominant HG002 HG002 chr22:25507139:A:T 1,.,. -1 -1 -1 -1 -1 -1 CRYBB2P1 53_non_coding 28,.,. 0.428571,.,. CRYBB2P1/non_coding/ dominant HG002 HG002 chr22:25653238:A:C 1,.,. -1 -1 -1 -1 -1 -1 GRK3 50_intron 37,.,. 0.459459,.,. GRK3/intron/ 0.2411 0.4178 0.6530 2 dominant HG002 HG002 chr22:25695675:ACAAGTTCTC:A 1,.,. -1 -1 -1 -1 -1 -1 GRK3 50_intron 50,.,. 0.56,.,. GRK3/intron/ 0.2411 0.4178 0.6530 2 dominant HG002 HG002 chr22:25695685:T:G 1,.,. -1 -1 -1 -1 -1 -1 GRK3 50_intron 50,.,. 0.56,.,. GRK3/intron/ 0.2411 0.4178 0.6530 2 dominant HG002 HG002 chr22:26351536:T:TGTTGGTTG 1,.,. 9.83607e-05 0 3 -1 -1 -1 SEZ6L 50_intron 24,.,. 0.5,.,. SEZ6L/intron/ 0.9996 0.3364 0.4500 1 dominant HG002 HG002 chr22:26408798:C:T 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.551724,.,. dominant HG002 HG002 chr22:26874663:A:T 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr22:26874664:AATGTTTAAAACAAAT:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.516129,.,. dominant HG002 HG002 chr22:26964892:T:TCATC 1,.,. -1 -1 -1 -1 -1 -1 53,.,. 0.528302,.,. dominant HG002 HG002 chr22:27668043:T:TGA 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.571429,.,. dominant HG002 HG002 chr22:27768815:T:G 1,.,. -1 -1 -1 -1 -1 -1 MN1 50_intron 29,.,. 0.448276,.,. MN1/intron/;MN1/non_coding/ 0.9924 0.3284 0.4820 1 CEBALID syndrome;Familial meningioma 0.000 dominant HG002 HG002 chr22:27809058:C:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.6,.,. dominant HG002 HG002 chr22:27991284:CA:C 1,.,. 2.62736e-05 0 4 -1 -1 -1 TTC28 50_intron 40,.,. 0.375,.,. TTC28/intron/ 1.0000 0.3126 0.3860 0 dominant HG002 HG002 chr22:28283341:C:CAT 1,.,. 2.63276e-05 0 4 -1 -1 -1 TTC28 50_intron 45,.,. 0.6,.,. TTC28/intron/ 1.0000 0.3126 0.3860 0 dominant HG002 HG002 chr22:28283343:C:A 1,.,. 2.63265e-05 0 4 -1 -1 -1 TTC28 50_intron 43,.,. 0.627907,.,. TTC28/intron/ 1.0000 0.3126 0.3860 0 dominant HG002 HG002 chr22:28607133:C:T 1,.,. 2.6293e-05 0 4 -1 -1 -1 TTC28 50_intron 39,.,. 0.589744,.,. TTC28/intron/ 1.0000 0.3126 0.3860 0 dominant HG002 HG002 chr22:28685447:G:A 1,.,. 2.63168e-05 0 4 -1 -1 -1 51,.,. 0.607843,.,. dominant HG002 HG002 chr22:29020761:TTTTGTGTGTGTG:T 1,.,. -1 -1 -1 -1 -1 -1 ZNRF3 50_intron 30,.,. 0.266667,.,. ZNRF3/intron/ 0.9703 0.3522 0.5030 1 0.000 dominant HG002 HG002 chr22:29115443:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 KREMEN1 50_intron 37,.,. 0.27027,.,. KREMEN1/intron/ 0.0000 0.6030 0.8480 3 Ectodermal dysplasia 13, hair/tooth type 0.000 dominant HG002 HG002 chr22:29215191:C:T 1,.,. 2.6276e-05 0 4 -1 -1 -1 EMID1 50_intron 23,.,. 0.521739,.,. EMID1/intron/ 0.0000 0.7637 0.9940 5 dominant HG002 HG002 chr22:29400979:T:G 1,.,. -1 -1 -1 -1 -1 -1 AP1B1;AC002059.3 50_intron 43,.,. 0.55814,.,. AP1B1/intron/;AC002059.3/non_coding/ 0.9936 0.3563 0.4760 1 Autosomal recessive keratitis-ichthyosis-deafness syndrome 0.000 dominant HG002 HG002 chr22:29585187:G:A 1,.,. 2.62805e-05 0 4 -1 -1 -1 25,.,. 0.52,.,. dominant HG002 HG002 chr22:30680378:G:A 1,.,. 2.63023e-05 0 4 -1 -1 -1 33,.,. 0.515152,.,. dominant HG002 HG002 chr22:31486279:A:T 1,.,. 0.000114969 0 1 -1 -1 -1 DRG1;EIF4ENIF1 50_intron 38,.,. 0.473684,.,. DRG1/intron/;EIF4ENIF1/intron/ 0.0166;;1.0000 0.4759;;0.2011 0.6980;;0.2850 2;;0 Tan-Almurshedi syndrome dominant HG002 HG002 chr22:32463508:GAAAACACCTGAAAC:G 1,.,. -1 -1 -1 -1 -1 -1 BPIFC 50_intron 31,.,. 0.419355,.,. BPIFC/intron/ 0.0000 0.9876 1.2530 7 dominant HG002 HG002 chr22:32463524:C:A 1,.,. 6.57687e-06 0 1 -1 -1 -1 BPIFC 50_intron 32,.,. 0.4375,.,. BPIFC/intron/ 0.0000 0.9876 1.2530 7 dominant HG002 HG002 chr22:32463525:A:G 1,.,. -1 -1 -1 -1 -1 -1 BPIFC 50_intron 32,.,. 0.4375,.,. BPIFC/intron/ 0.0000 0.9876 1.2530 7 dominant HG002 HG002 chr22:32463526:C:T 1,.,. -1 -1 -1 -1 -1 -1 BPIFC 50_intron 32,.,. 0.4375,.,. BPIFC/intron/ 0.0000 0.9876 1.2530 7 dominant HG002 HG002 chr22:32553416:A:AAAT 1,.,. 1.97065e-05 0 3 -1 -1 -1 SYN3 50_intron 26,.,. 0.346154,.,. SYN3/intron/ 0.0001 0.5355 0.7230 2 dominant HG002 HG002 chr22:32780967:TTCCTTCCTTCCC:T 1,.,. 1.51566e-05 0 1 -1 -1 -1 SYN3 50_intron 32,.,. 0.53125,.,. SYN3/intron/;SYN3/non_coding/ 0.0001 0.5355 0.7230 2 dominant HG002 HG002 chr22:32781135:T:C 1,.,. 7.22136e-06 0 1 -1 -1 -1 SYN3 50_intron 32,.,. 0.5625,.,. SYN3/intron/;SYN3/non_coding/ 0.0001 0.5355 0.7230 2 dominant HG002 HG002 chr22:33137363:G:A 1,.,. 1.31477e-05 0 2 -1 -1 -1 29,.,. 0.586207,.,. dominant HG002 HG002 chr22:33183972:T:A 1,.,. 6.58692e-06 0 1 -1 -1 -1 LARGE1 50_intron 59,.,. 0.576271,.,. LARGE1/intron/;LARGE1/non_coding/ 0.0006 0.4683 0.6060 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6;Muscular dystrophy-dystroglycanopathy type B6 0.000 dominant HG002 HG002 chr22:33307636:G:A 1,.,. 1.31428e-05 0 2 -1 -1 -1 LARGE1 50_intron 33,.,. 0.636364,.,. LARGE1/intron/;LARGE1/non_coding/ 0.0006 0.4683 0.6060 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6;Muscular dystrophy-dystroglycanopathy type B6 0.000 dominant HG002 HG002 chr22:33319698:T:C 1,.,. 6.57575e-06 0 1 -1 -1 -1 LARGE1 50_intron 33,.,. 0.484848,.,. LARGE1/intron/;LARGE1/non_coding/ 0.0006 0.4683 0.6060 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6;Muscular dystrophy-dystroglycanopathy type B6 0.000 dominant HG002 HG002 chr22:33496640:C:T 1,.,. 2.62829e-05 0 4 -1 -1 -1 LARGE1 50_intron 36,.,. 0.638889,.,. LARGE1/intron/;LARGE1/non_coding/ 0.0006 0.4683 0.6060 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6;Muscular dystrophy-dystroglycanopathy type B6 0.000 recessive HG002 HG002 chr22:33539732:A:AGGCATGTGCCAC 2,.,. -1 -1 -1 -1 -1 -1 LARGE1 50_intron 20,.,. 1,.,. LARGE1/intron/;LARGE1/non_coding/ 0.0006 0.4683 0.6060 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6;Muscular dystrophy-dystroglycanopathy type B6 0.000 recessive HG002 HG002 chr22:33539734:C:A 2,.,. -1 -1 -1 -1 -1 -1 LARGE1 50_intron 20,.,. 1,.,. LARGE1/intron/;LARGE1/non_coding/ 0.0006 0.4683 0.6060 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6;Muscular dystrophy-dystroglycanopathy type B6 0.000 dominant HG002 HG002 chr22:33583401:A:C 1,.,. 1.31472e-05 0 2 -1 -1 -1 LARGE1 50_intron 35,.,. 0.628571,.,. LARGE1/intron/;LARGE1/non_coding/ 0.0006 0.4683 0.6060 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6;Muscular dystrophy-dystroglycanopathy type B6 0.000 dominant HG002 HG002 chr22:33590576:C:T 1,.,. 1.31387e-05 0 2 -1 -1 -1 LARGE1 50_intron 29,.,. 0.62069,.,. LARGE1/intron/;LARGE1/non_coding/ 0.0006 0.4683 0.6060 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6;Muscular dystrophy-dystroglycanopathy type B6 0.000 dominant HG002 HG002 chr22:33619668:C:T 1,.,. 1.31572e-05 0 2 -1 -1 -1 LARGE1 50_intron 40,.,. 0.6,.,. LARGE1/intron/;LARGE1/non_coding/ 0.0006 0.4683 0.6060 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6;Muscular dystrophy-dystroglycanopathy type B6 0.000 recessive HG002 HG002 chr22:33631156:TGTCTA:T 2,.,. -1 -1 -1 -1 -1 -1 LARGE1 50_intron 42,.,. 1,.,. LARGE1/intron/ 0.0006 0.4683 0.6060 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6;Muscular dystrophy-dystroglycanopathy type B6 0.000 dominant HG002 HG002 chr22:33694534:G:T 1,.,. 1.31544e-05 0 2 -1 -1 -1 LARGE1 50_intron 39,.,. 0.487179,.,. LARGE1/intron/ 0.0006 0.4683 0.6060 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6;Muscular dystrophy-dystroglycanopathy type B6 0.000 dominant HG002 HG002 chr22:33749806:A:G 1,.,. 1.31437e-05 0 2 -1 -1 -1 LARGE1;LARGE-AS1 50_intron 24,.,. 0.541667,.,. LARGE1/intron/;LARGE-AS1/non_coding/ 0.0006 0.4683 0.6060 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6;Muscular dystrophy-dystroglycanopathy type B6 0.000 dominant HG002 HG002 chr22:33798304:C:T 1,.,. 1.31607e-05 0 2 -1 -1 -1 LARGE1 50_intron 46,.,. 0.5,.,. LARGE1/intron/ 0.0006 0.4683 0.6060 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6;Muscular dystrophy-dystroglycanopathy type B6 0.000 dominant HG002 HG002 chr22:33979499:C:A 1,.,. 2.62926e-05 0 4 -1 -1 -1 40,.,. 0.475,.,. dominant HG002 HG002 chr22:34007683:A:G 1,.,. 6.57333e-06 0 1 -1 -1 -1 36,.,. 0.5,.,. dominant HG002 HG002 chr22:34191565:T:TGGC 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chr22:34191566:C:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr22:34596116:G:A 1,.,. 1.96928e-05 0 3 -1 -1 -1 31,.,. 0.322581,.,. recessive HG002 HG002 chr22:34669527:ACAGATATCCTCTT:A 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. recessive HG002 HG002 chr22:34669541:C:T 2,.,. -1 -1 -1 -1 -1 -1 56,.,. 1,.,. dominant HG002 HG002 chr22:34791885:G:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.638889,.,. dominant HG002 HG002 chr22:34791887:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.638889,.,. dominant HG002 HG002 chr22:34791903:T:A 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.638889,.,. dominant HG002 HG002 chr22:34791942:C:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.638889,.,. dominant HG002 HG002 chr22:34791981:A:C 1,.,. 6.57013e-06 0 1 -1 -1 -1 36,.,. 0.638889,.,. dominant HG002 HG002 chr22:34791987:G:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.657143,.,. dominant HG002 HG002 chr22:34792013:A:G 1,.,. 1.31342e-05 0 2 -1 -1 -1 36,.,. 0.638889,.,. dominant HG002 HG002 chr22:34792051:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.628571,.,. dominant HG002 HG002 chr22:34792057:C:T 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.638889,.,. dominant HG002 HG002 chr22:34792106:A:G 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.638889,.,. dominant HG002 HG002 chr22:34792110:T:C 1,.,. -1 -1 -1 -1 -1 -1 36,.,. 0.638889,.,. dominant HG002 HG002 chr22:34792204:G:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.628571,.,. dominant HG002 HG002 chr22:34792205:G:C 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.628571,.,. dominant HG002 HG002 chr22:34792209:C:CA 1,.,. -1 -1 -1 -1 -1 -1 34,.,. 0.558824,.,. dominant HG002 HG002 chr22:34792237:C:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.628571,.,. dominant HG002 HG002 chr22:34811315:A:AGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.4375,.,. dominant HG002 HG002 chr22:34966865:C:T 1,.,. 1.31582e-05 0 2 -1 -1 -1 35,.,. 0.371429,.,. recessive HG002 HG002 chr22:35063428:A:C 2,.,. -1 -1 -1 -1 -1 -1 34,.,. 1,.,. recessive HG002 HG002 chr22:35170400:A:ATGTGTGTG 2,.,. 0.000470452 1 26 -1 -1 -1 LINC01399 53_non_coding 46,.,. 1,.,. LINC01399/non_coding/ dominant HG002 HG002 chr22:35237426:G:T 1,.,. 2.63082e-05 0 4 -1 -1 -1 40,.,. 0.5,.,. recessive HG002 HG002 chr22:35438995:TCATC:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chr22:35439016:C:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chr22:35499630:G:A 1,.,. 1.31886e-05 0 2 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chr22:35692234:A:G 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr22:35692235:T:A 1,.,. -1 -1 -1 -1 -1 -1 44,.,. 0.454545,.,. dominant HG002 HG002 chr22:35692236:C:T 1,.,. 7.33299e-05 0 2 -1 -1 -1 43,.,. 0.465116,.,. dominant HG002 HG002 chr22:35828895:C:T 1,.,. 2.63348e-05 0 4 -1 -1 -1 RBFOX2 50_intron 45,.,. 0.511111,.,. RBFOX2/intron/;RBFOX2/non_coding/ 1.0000 0.1926 0.3360 0 dominant HG002 HG002 chr22:36210978:T:C 1,.,. 1.97202e-05 0 3 -1 -1 -1 31,.,. 0.451613,.,. recessive HG002 HG002 chr22:36747266:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chr22:36747279:T:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. dominant HG002 HG002 chr22:37175062:G:A 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.473684,.,. dominant HG002 HG002 chr22:38027353:A:G 1,.,. -1 -1 -1 -1 -1 -1 POLR2F 50_intron 28,.,. 0.535714,.,. POLR2F/intron/ 0.0035 0.6099 0.9880 5 dominant HG002 HG002 chr22:38276228:TATCTGCAATGTGTA:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.37037,.,. dominant HG002 HG002 chr22:38276243:G:T 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.37037,.,. recessive HG002 HG002 chr22:38478794:A:C 2,.,. -1 -1 -1 -1 -1 -1 KDELR3 50_intron 30,.,. 1,.,. KDELR3/intron/;KDELR3/non_coding/ 0.0000 0.9595 1.3940 7 recessive HG002 HG002 chr22:38478795:T:A 2,.,. -1 -1 -1 -1 -1 -1 KDELR3 50_intron 30,.,. 1,.,. KDELR3/intron/;KDELR3/non_coding/ 0.0000 0.9595 1.3940 7 recessive HG002 HG002 chr22:38478796:G:T 2,.,. -1 -1 -1 -1 -1 -1 KDELR3 50_intron 30,.,. 1,.,. KDELR3/intron/;KDELR3/non_coding/ 0.0000 0.9595 1.3940 7 dominant HG002 HG002 chr22:38834921:G:A 1,.,. -1 -1 -1 -1 -1 -1 NPTXR 50_intron 20,.,. 0.45,.,. NPTXR/intron/ 0.0111 0.5216 0.8150 3 dominant HG002 HG002 chr22:38852351:C:T 1,.,. 1.31416e-05 0 2 -1 -1 -1 31,.,. 0.516129,.,. recessive HG002 HG002 chr22:38896253:A:T 2,.,. -1 -1 -1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chr22:38896257:T:C 2,.,. -1 -1 -1 0.00105116 0 3 38,.,. 1,.,. dominant HG002 HG002 chr22:38917221:G:C 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.6,.,. dominant HG002 HG002 chr22:39211785:T:TAC 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.482759,.,. dominant HG002 HG002 chr22:39211790:A:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chr22:40120876:G:C 1,.,. 2.62874e-05 0 4 -1 -1 -1 TNRC6B 50_intron 40,.,. 0.4,.,. TNRC6B/intron/ 1.0000 0.2630 0.3320 0 Global developmental delay with speech and behavioral abnormalities 0.000 dominant HG002 HG002 chr22:40164781:T:G 1,.,. -1 -1 -1 -1 -1 -1 TNRC6B 50_intron 31,.,. 0.451613,.,. TNRC6B/intron/ 1.0000 0.2630 0.3320 0 Global developmental delay with speech and behavioral abnormalities 0.000 dominant HG002 HG002 chr22:40261700:C:T 1,.,. 1.31615e-05 0 2 -1 -1 -1 TNRC6B 50_intron 30,.,. 0.5,.,. TNRC6B/intron/ 1.0000 0.2630 0.3320 0 Global developmental delay with speech and behavioral abnormalities 0.000 dominant HG002 HG002 chr22:40446597:A:C 1,.,. 2.62871e-05 0 4 -1 -1 -1 MRTFA 50_intron 39,.,. 0.384615,.,. MRTFA/intron/ 1.0000 0.2674 0.3890 0 Immunodeficiency 66 0.000 dominant HG002 HG002 chr22:40633170:TTTC:T 1,.,. -1 -1 -1 -1 -1 -1 MRTFA 50_intron 25,.,. 0.4,.,. MRTFA/intron/;MRTFA/non_coding/ 1.0000 0.2674 0.3890 0 Immunodeficiency 66 0.000 dominant HG002 HG002 chr22:41221302:C:T 1,.,. 2.62753e-05 0 4 -1 -1 -1 L3MBTL2 30_synonymous 35,.,. 0.457143,.,. L3MBTL2/synonymous/ENST00000449635 0.0000 0.5034 0.6490 2 dominant HG002 HG002 chr22:41615443:A:T 1,.,. -1 -1 -1 -1 -1 -1 DESI1 50_intron 38,.,. 0.473684,.,. DESI1/intron/ 0.0000 0.7450 1.1180 6 dominant HG002 HG002 chr22:41694831:G:T 1,.,. -1 -1 -1 -1 -1 -1 C22orf46 53_non_coding 22,.,. 0.636364,.,. C22orf46/non_coding/ recessive HG002 HG002 chr22:42142455:ACTCCTCGGT:A 2,.,. -1 -1 -1 -1 -1 -1 CYP2D7 50_intron 19,.,. 1,.,. CYP2D7/intron/;CYP2D7/non_coding/ recessive HG002 HG002 chr22:42142466:T:C 2,.,. -1 -1 -1 -1 -1 -1 CYP2D7 50_intron 19,.,. 1,.,. CYP2D7/intron/;CYP2D7/non_coding/ recessive HG002 HG002 chr22:42142469:C:T 2,.,. 7.63126e-05 0 2 -1 -1 -1 CYP2D7 50_intron 19,.,. 1,.,. CYP2D7/intron/;CYP2D7/non_coding/ dominant HG002 HG002 chr22:42188381:A:AACC 1,.,. 2.64019e-05 0 4 -1 -1 -1 TCF20 50_intron 36,.,. 0.5,.,. TCF20/intron/ 1.0000 0.0193 0.0500 0 Developmental delay with variable intellectual impairment and behavioral abnormalities 0.000 dominant HG002 HG002 chr22:42255500:C:A 1,.,. -1 -1 -1 -1 -1 -1 TCF20 50_intron 25,.,. 0.44,.,. TCF20/intron/ 1.0000 0.0193 0.0500 0 Developmental delay with variable intellectual impairment and behavioral abnormalities 0.000 dominant HG002 HG002 chr22:42282899:A:AGCG 1,.,. -1 -1 -1 -1 -1 -1 TCF20 50_intron 24,.,. 0.458333,.,. TCF20/intron/ 1.0000 0.0193 0.0500 0 Developmental delay with variable intellectual impairment and behavioral abnormalities 0.000 dominant HG002 HG002 chr22:42282902:C:T 1,.,. -1 -1 -1 -1 -1 -1 TCF20 50_intron 24,.,. 0.458333,.,. TCF20/intron/ 1.0000 0.0193 0.0500 0 Developmental delay with variable intellectual impairment and behavioral abnormalities 0.000 dominant HG002 HG002 chr22:42386392:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 NFAM1 50_intron 23,.,. 0.304348,.,. NFAM1/intron/ 0.0156 0.6190 1.1170 6 dominant HG002 HG002 chr22:42449206:G:A 1,.,. 2.69328e-05 0 4 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chr22:42839637:T:C 1,.,. 1.98234e-05 0 3 -1 -1 -1 ARFGAP3;PACSIN2 50_intron 32,.,. 0.625,.,. ARFGAP3/intron/;PACSIN2/intron/ 0.0000;;0.8808 0.8881;;0.3727 1.1160;;0.5240 6;;1 dominant HG002 HG002 chr22:43161472:C:T 1,.,. 1.97368e-05 0 3 -1 -1 -1 TSPO 50_intron 25,.,. 0.52,.,. TSPO/intron/ 0.0000 1.3497 1.8710 9 dominant HG002 HG002 chr22:43178880:C:T 1,.,. 1.31399e-05 0 2 -1 -1 -1 TTLL12 50_intron 23,.,. 0.565217,.,. TTLL12/intron/ 0.0000 1.0631 1.2850 7 dominant HG002 HG002 chr22:43257613:A:C 1,.,. 1.97106e-05 0 3 -1 -1 -1 SCUBE1 50_intron 21,.,. 0.714286,.,. SCUBE1/intron/ 0.0000 0.5218 0.6490 2 recessive HG002 HG002 chr22:43902303:TGGTCTCAAGGG:T 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chr22:43902315:G:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chr22:44090425:G:A 1,.,. -1 -1 -1 -1 -1 -1 PARVB 50_intron 26,.,. 0.576923,.,. PARVB/intron/;PARVB/non_coding/ 0.0000 0.9076 1.2680 7 dominant HG002 HG002 chr22:44241639:TCTTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr22:44304148:T:C 1,.,. -1 -1 -1 -1 -1 -1 SHISAL1 50_intron 19,.,. 0.368421,.,. SHISAL1/intron/ 0.4292 0.3921 0.6840 2 dominant HG002 HG002 chr22:44362345:C:T 1,.,. -1 -1 -1 0.000700771 0 2 13,.,. 0.307692,.,. dominant HG002 HG002 chr22:44605020:A:AGC 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.363636,.,. dominant HG002 HG002 chr22:44740588:G:GTGTGTGTACA 1,.,. -1 -1 -1 -1 -1 -1 PRR5-ARHGAP8 50_intron 24,.,. 0.583333,.,. PRR5-ARHGAP8/intron/;PRR5-ARHGAP8/non_coding/ 0.0000 1.3075 1.5760 8 dominant HG002 HG002 chr22:44884123:CATGATCACCATT:C 1,.,. -1 -1 -1 -1 -1 -1 PHF21B 50_intron 29,.,. 0.448276,.,. PHF21B/intron/ 0.0110 0.4735 0.6760 2 dominant HG002 HG002 chr22:45046714:AAG:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.342857,.,. dominant HG002 HG002 chr22:45088242:A:G 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.4,.,. dominant HG002 HG002 chr22:45173844:G:A 1,.,. -1 -1 -1 -1 -1 -1 NUP50 50_intron 25,.,. 0.4,.,. NUP50/intron/;NUP50/non_coding/ 0.3824 0.4004 0.6630 2 dominant HG002 HG002 chr22:45218649:C:A 1,.,. 6.57419e-06 0 1 -1 -1 -1 KIAA0930 50_intron 30,.,. 0.466667,.,. KIAA0930/intron/;KIAA0930/non_coding/ 0.0000 0.5950 0.8370 3 recessive HG002 HG002 chr22:45751755:T:A 2,.,. -1 -1 -1 0.0108619 3 31 ATXN10 50_intron 27,.,. 1,.,. ATXN10/intron/;ATXN10/non_coding/ 0.0005 0.5184 0.7190 2 Spinocerebellar ataxia type 10 0.000 dominant HG002 HG002 chr22:46095861:T:TC 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.571429,.,. dominant HG002 HG002 chr22:46556034:A:T 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.625,.,. recessive HG002 HG002 chr22:46616034:A:G 2,.,. -1 -1 -1 -1 -1 -1 GRAMD4 50_intron 16,.,. 1,.,. GRAMD4/intron/ 0.9982 0.3129 0.4590 1 recessive HG002 HG002 chr22:46616037:TGTAGG:T 2,.,. 0.0116125 2 35 -1 -1 -1 GRAMD4 50_intron 14,.,. 1,.,. GRAMD4/intron/ 0.9982 0.3129 0.4590 1 dominant HG002 HG002 chr22:46683553:AAAACAAGGT:A 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.6,.,. dominant HG002 HG002 chr22:46683563:T:C 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.6,.,. dominant HG002 HG002 chr22:46841044:A:ATGTG 1,.,. -1 -1 -1 -1 -1 -1 TBC1D22A 50_intron 20,.,. 0.75,.,. TBC1D22A/intron/ 0.0000 0.6772 0.8810 4 dominant HG002 HG002 chr22:47069794:A:G 1,.,. -1 -1 -1 -1 -1 -1 TBC1D22A 50_intron 18,.,. 0.666667,.,. TBC1D22A/intron/ 0.0000 0.6772 0.8810 4 dominant HG002 HG002 chr22:47069801:T:C 1,.,. -1 -1 -1 -1 -1 -1 TBC1D22A 50_intron 18,.,. 0.666667,.,. TBC1D22A/intron/ 0.0000 0.6772 0.8810 4 recessive HG002 HG002 chr22:47489651:GCGCACA:G 2,.,. -1 -1 -1 -1 -1 -1 33,.,. 1,.,. dominant HG002 HG002 chr22:47911372:ACT:A 1,.,. 2.62943e-05 0 4 -1 -1 -1 31,.,. 0.548387,.,. recessive HG002 HG002 chr22:47998764:G:A 2,.,. 0.00528958 3 805 0.00525578 0 15 36,.,. 1,.,. recessive HG002 HG002 chr22:48057355:A:G 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chr22:48057356:G:A 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chr22:48057357:T:G 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chr22:48057539:T:C 1,.,. 2.62936e-05 0 4 -1 -1 -1 29,.,. 0.482759,.,. recessive HG002 HG002 chr22:48455054:GCACACACACACACA:G 2,.,. 0.00148793 0 159 0.000700771 0 2 19,.,. 1,.,. dominant HG002 HG002 chr22:48679128:C:T 1,.,. -1 -1 -1 0.00140154 0 4 TAFA5 50_intron 25,.,. 0.48,.,. TAFA5/intron/;TAFA5/non_coding/ 0.4834 0.3584 0.8200 3 dominant HG002 HG002 chr22:48679558:CGGCTCCCCGTCCATCCCTCTCCG:C 1,.,. -1 -1 -1 0.00105116 0 3 TAFA5 50_intron 21,.,. 0.52381,.,. TAFA5/intron/;TAFA5/non_coding/ 0.4834 0.3584 0.8200 3 dominant HG002 HG002 chr22:48686935:G:A 1,.,. -1 -1 -1 -1 -1 -1 TAFA5 50_intron 25,.,. 0.56,.,. TAFA5/intron/;TAFA5/non_coding/ 0.4834 0.3584 0.8200 3 dominant HG002 HG002 chr22:48736171:A:T 1,.,. -1 -1 -1 -1 -1 -1 TAFA5 50_intron 21,.,. 0.619048,.,. TAFA5/intron/;TAFA5/non_coding/ 0.4834 0.3584 0.8200 3 dominant HG002 HG002 chr22:48802289:T:TACACACAC 1,.,. 6.40574e-05 0 2 -1 -1 -1 TAFA5 50_intron 20,.,. 0.4,.,. TAFA5/intron/ 0.4834 0.3584 0.8200 3 recessive HG002 HG002 chr22:48832294:C:A 2,.,. 5.95159e-05 0 9 -1 -1 -1 TAFA5 50_intron 28,.,. 1,.,. TAFA5/intron/ 0.4834 0.3584 0.8200 3 dominant HG002 HG002 chr22:48897532:G:A 1,.,. 6.56806e-06 0 1 -1 -1 -1 18,.,. 0.5,.,. dominant HG002 HG002 chr22:48911897:G:A 1,.,. 4.9807e-05 0 4 -1 -1 -1 26,.,. 0.423077,.,. dominant HG002 HG002 chr22:48912187:C:CCA 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.56,.,. dominant HG002 HG002 chr22:48957150:A:ACACT 1,.,. 0.000104308 0 2 -1 -1 -1 18,.,. 0.555556,.,. dominant HG002 HG002 chr22:49155844:C:CAATTTATAGAACCCCTCCCGCTCTCCACACAA 1,.,. -1 -1 -1 -1 -1 -1 13,.,. 0.538462,.,. dominant HG002 HG002 chr22:49243171:CGGAT:C 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.636364,.,. dominant HG002 HG002 chr22:49243176:G:A 1,.,. 5.41536e-05 0 2 -1 -1 -1 22,.,. 0.636364,.,. recessive HG002 HG002 chr22:49384444:T:TGC 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chr22:49384445:C:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chr22:49579470:T:C 1,.,. -1 -1 -1 0.00105116 0 3 30,.,. 0.4,.,. recessive HG002 HG002 chr22:49879753:G:C 2,.,. -1 -1 -1 -1 -1 -1 ZBED4 50_intron 36,.,. 1,.,. ZBED4/intron/ 0.3474 0.4038 0.7290 2 recessive HG002 HG002 chr22:49879755:C:A 2,.,. -1 -1 -1 -1 -1 -1 ZBED4 50_intron 36,.,. 1,.,. ZBED4/intron/ 0.3474 0.4038 0.7290 2 recessive HG002 HG002 chr22:49879757:G:T 2,.,. -1 -1 -1 -1 -1 -1 ZBED4 50_intron 34,.,. 1,.,. ZBED4/intron/ 0.3474 0.4038 0.7290 2 recessive HG002 HG002 chr22:49879761:C:T 2,.,. -1 -1 -1 -1 -1 -1 ZBED4 50_intron 36,.,. 1,.,. ZBED4/intron/ 0.3474 0.4038 0.7290 2 recessive HG002 HG002 chr22:49879776:T:G 2,.,. -1 -1 -1 -1 -1 -1 ZBED4 50_intron 36,.,. 1,.,. ZBED4/intron/ 0.3474 0.4038 0.7290 2 recessive HG002 HG002 chr22:49879781:T:C 2,.,. -1 -1 -1 -1 -1 -1 ZBED4 50_intron 35,.,. 1,.,. ZBED4/intron/ 0.3474 0.4038 0.7290 2 recessive HG002 HG002 chr22:49879790:T:A 2,.,. -1 -1 -1 -1 -1 -1 ZBED4 50_intron 36,.,. 1,.,. ZBED4/intron/ 0.3474 0.4038 0.7290 2 dominant HG002 HG002 chr22:49972818:G:GCGTGTGTGT 1,.,. -1 -1 -1 -1 -1 -1 11,.,. 0.454545,.,. dominant HG002 HG002 chr22:50029406:A:ACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGAC 1,.,. -1 -1 -1 0.000700771 0 2 TTLL8 50_intron 22,.,. 0.363636,.,. TTLL8/intron/ 0.0000 0.9538 1.1920 6 dominant HG002 HG002 chr22:50307776:G:GGGGGA 1,.,. 0.00215517 0 1 -1 -1 -1 14,.,. 0.5,.,. dominant HG002 HG002 chr22:50308130:T:G 1,.,. 6.61603e-06 0 1 -1 -1 -1 16,.,. 0.375,.,. dominant HG002 HG002 chr22:50449617:A:AAC 1,.,. -1 -1 -1 -1 -1 -1 SBF1 50_intron 21,.,. 0.285714,.,. SBF1/intron/;SBF1/non_coding/ 1.0000 0.3098 0.3810 0 Charcot-Marie-Tooth disease type 4;Charcot-Marie-Tooth disease type 4B3 0.000 dominant HG002 HG002 chrX:34041:T:A 1,.,. -1 -1 -1 0.000759878 0 2 19,.,. 0.684211,.,. dominant HG002 HG002 chrX:111449:A:G 1,.,. -1 -1 -1 0.000759878 0 2 14,.,. 0.785714,.,. dominant HG002 HG002 chrX:111461:T:A 1,.,. -1 -1 -1 -1 -1 -1 14,.,. 0.785714,.,. dominant HG002 HG002 chrX:111485:C:A 1,.,. -1 -1 -1 -1 -1 -1 14,.,. 0.785714,.,. dominant HG002 HG002 chrX:111898:G:A 1,.,. -1 -1 -1 -1 -1 -1 14,.,. 0.785714,.,. recessive HG002 HG002 chrX:114190:CT:C 1,.,. -1 -1 -1 0.00379939 4 10 15,.,. 0.733333,.,. dominant HG002 HG002 chrX:114352:C:T 1,.,. -1 -1 -1 -1 -1 -1 15,.,. 0.733333,.,. dominant HG002 HG002 chrX:128426:C:A 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. dominant HG002 HG002 chrX:243123:T:G 1,.,. -1 -1 -1 0.000759878 0 2 19,.,. 0.263158,.,. dominant HG002 HG002 chrX:243234:A:C 1,.,. -1 -1 -1 0.000759878 0 2 19,.,. 0.263158,.,. dominant HG002 HG002 chrX:243944:A:G 1,.,. 4.5159e-05 0 4 -1 -1 -1 20,.,. 0.25,.,. dominant HG002 HG002 chrX:244557:T:C 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.25,.,. dominant HG002 HG002 chrX:249592:G:A 1,.,. -1 -1 -1 0.000759878 0 2 20,.,. 0.2,.,. recessive HG002 HG002 chrX:259241:G:C 1,.,. 0.000175932 0 2 0.00569909 1 15 25,.,. 0.48,.,. recessive HG002 HG002 chrX:283576:C:A 1,.,. -1 -1 -1 0.018997 1 50 PLCXD1 50_intron 15,.,. 0.4,.,. PLCXD1/intron/;PLCXD1/non_coding/ recessive HG002 HG002 chrX:332234:CCGG:C 1,.,. 0.00304044 0 20 -1 -1 -1 8,.,. 0.375,.,. dominant HG002 HG002 chrX:332239:G:C 1,.,. 0.000180554 0 4 -1 -1 -1 8,.,. 0.375,.,. recessive HG002 HG002 chrX:332239:G:C 1,.,. 0.000180554 0 4 -1 -1 -1 8,.,. 0.375,.,. recessive HG002 HG002 chrX:334556:G:A 1,.,. 0.00399732 3 609 0.00531915 1 14 PPP2R3B 50_intron 10,.,. 0.5,.,. PPP2R3B/intron/;PPP2R3B/non_coding/ recessive HG002 HG002 chrX:340574:A:T 1,.,. 0.000263973 0 23 0.0117781 3 31 PPP2R3B 50_intron 8,.,. 0.5,.,. PPP2R3B/intron/;PPP2R3B/non_coding/ recessive HG002 HG002 chrX:340642:T:A 1,.,. 0.00267789 2 14 0.0110182 3 29 PPP2R3B 50_intron 8,.,. 0.5,.,. PPP2R3B/intron/;PPP2R3B/non_coding/ recessive HG002 HG002 chrX:364175:C:A 1,.,. 0.000124823 0 19 -1 -1 -1 PPP2R3B 50_intron 15,.,. 0.466667,.,. PPP2R3B/intron/;PPP2R3B/non_coding/ recessive HG002 HG002 chrX:367606:G:A 1,.,. 0.00106393 0 162 -1 -1 -1 PPP2R3B 50_intron 15,.,. 0.533333,.,. PPP2R3B/intron/;PPP2R3B/non_coding/ recessive HG002 HG002 chrX:369623:C:A 1,.,. 0.00261897 0 399 0.00113982 0 3 PPP2R3B 50_intron 19,.,. 0.473684,.,. PPP2R3B/intron/;PPP2R3B/non_coding/ recessive HG002 HG002 chrX:384278:C:CTA 1,.,. 0.00173883 0 258 0.00341945 0 9 PPP2R3B 50_intron 17,.,. 0.352941,.,. PPP2R3B/intron/;PPP2R3B/non_coding/ recessive HG002 HG002 chrX:391037:A:C 1,.,. 0.00204406 1 262 0.000759878 0 2 16,.,. 0.4375,.,. recessive HG002 HG002 chrX:391429:C:T 1,.,. 0.000644788 0 98 0.000759878 0 2 16,.,. 0.5625,.,. recessive HG002 HG002 chrX:408145:C:T 1,.,. -1 -1 -1 0.00721885 0 19 20,.,. 0.5,.,. recessive HG002 HG002 chrX:409915:G:C 1,.,. 0.00441221 3 668 0.00265957 0 7 18,.,. 0.5,.,. dominant HG002 HG002 chrX:415552:T:TTGAGGAGCTGGGACTACAGACATACACCATCACACCTGGCTAATATTTAATTTTTTCTTGTAGGGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCACTGGTGCAATCTCCGCTCACTACAGCCTCCACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCC 1,.,. -1 -1 -1 0.00113982 1 3 20,.,. 0.4,.,. recessive HG002 HG002 chrX:418053:G:GCCA 1,.,. 0.000673472 0 19 -1 -1 -1 21,.,. 0.52381,.,. recessive HG002 HG002 chrX:418058:A:G 1,.,. 0.000306452 0 45 -1 -1 -1 21,.,. 0.52381,.,. recessive HG002 HG002 chrX:421989:C:T 1,.,. 0.000183886 0 28 -1 -1 -1 18,.,. 0.5,.,. recessive HG002 HG002 chrX:425937:A:T 2,.,. 0.00074454 1 18 0.00379939 0 10 15,.,. 1,.,. recessive HG002 HG002 chrX:433795:G:C 1,.,. 0.00014271 0 21 -1 -1 -1 23,.,. 0.391304,.,. recessive HG002 HG002 chrX:433796:G:A 1,.,. 6.15915e-05 0 5 -1 -1 -1 23,.,. 0.391304,.,. recessive HG002 HG002 chrX:433811:A:AGGAAGGAAAGGAG 1,.,. 0.000277363 0 42 -1 -1 -1 23,.,. 0.391304,.,. dominant HG002 HG002 chrX:442482:T:TGC 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chrX:442578:T:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. recessive HG002 HG002 chrX:442578:T:C 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. dominant HG002 HG002 chrX:442582:A:AGCTCCTCTGTC 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.5,.,. recessive HG002 HG002 chrX:446465:G:A 1,.,. 0.00375826 1 572 0.00455927 0 12 29,.,. 0.551724,.,. recessive HG002 HG002 chrX:454315:G:A 1,.,. 0.00283237 3 409 0.00227964 0 6 28,.,. 0.464286,.,. dominant HG002 HG002 chrX:456093:CATTTATCT:C 1,.,. 6.82575e-06 0 1 -1 -1 -1 26,.,. 0.461538,.,. dominant HG002 HG002 chrX:457620:C:CAATCATCT 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.5,.,. recessive HG002 HG002 chrX:457623:C:T 1,.,. 4.66505e-05 0 7 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chrX:457665:T:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chrX:457667:T:C 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chrX:458509:TTCTTTC:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.5,.,. dominant HG002 HG002 chrX:458516:T:C 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.538462,.,. recessive HG002 HG002 chrX:458516:T:C 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.538462,.,. recessive HG002 HG002 chrX:469062:G:A 1,.,. 0.00248992 0 379 0.00151976 0 4 27,.,. 0.592593,.,. recessive HG002 HG002 chrX:496273:G:A 1,.,. 0.00485887 2 734 0.00417933 0 11 16,.,. 0.375,.,. dominant HG002 HG002 chrX:505469:C:G 1,.,. -1 -1 -1 0.00113982 0 3 22,.,. 0.454545,.,. recessive HG002 HG002 chrX:505524:G:C 1,.,. -1 -1 -1 0.00531915 0 14 21,.,. 0.47619,.,. dominant HG002 HG002 chrX:505550:T:C 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.47619,.,. recessive HG002 HG002 chrX:505550:T:C 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.47619,.,. dominant HG002 HG002 chrX:505560:T:TA 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.47619,.,. dominant HG002 HG002 chrX:505576:CTATT:C 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.52381,.,. recessive HG002 HG002 chrX:505675:C:G 1,.,. 0.000188627 1 11 0.00607903 1 16 13,.,. 0.769231,.,. recessive HG002 HG002 chrX:511623:C:T 1,.,. 0.00658853 3 986 0.00303951 0 8 17,.,. 0.529412,.,. recessive HG002 HG002 chrX:512475:AGAGCTCCTTCCCTCTCCCTGCATCCCCTTTCCCTGTGGGAGCAG:A 1,.,. -1 -1 -1 0.00227964 0 6 17,.,. 0.411765,.,. recessive HG002 HG002 chrX:516595:C:G 1,.,. 0.000250968 0 38 -1 -1 -1 21,.,. 0.571429,.,. dominant HG002 HG002 chrX:544014:C:CCCTT 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.44,.,. recessive HG002 HG002 chrX:544014:C:CCCTT 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.44,.,. recessive HG002 HG002 chrX:547809:C:T 1,.,. 0.00457327 4 695 0.00303951 0 8 27,.,. 0.481481,.,. dominant HG002 HG002 chrX:562040:C:T 2,.,. 5.17045e-05 0 3 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chrX:562040:C:T 2,.,. 5.17045e-05 0 3 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chrX:570252:G:GTATCGTGTATTATATAATATATAGTATATTGTATCGTGTATTATATAATACATAGTATATTA 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.34375,.,. recessive HG002 HG002 chrX:581856:CAG:C 1,.,. 0.000130526 0 12 -1 -1 -1 21,.,. 0.47619,.,. recessive HG002 HG002 chrX:626494:C:A 1,.,. 0.0015132 1 186 0.0132979 2 35 SHOX 50_intron 16,.,. 0.75,.,. SHOX/intron/ Leri-Weill dyschondrosteosis;SHOX-related short stature;Langer mesomelic dysplasia syndrome 0.000 dominant HG002 HG002 chrX:648916:C:T 2,.,. -1 -1 -1 0.00113982 1 3 SHOX 50_intron 18,.,. 1,.,. SHOX/intron/ Leri-Weill dyschondrosteosis;SHOX-related short stature;Langer mesomelic dysplasia syndrome 0.000 recessive HG002 HG002 chrX:648916:C:T 2,.,. -1 -1 -1 0.00113982 1 3 SHOX 50_intron 18,.,. 1,.,. SHOX/intron/ Leri-Weill dyschondrosteosis;SHOX-related short stature;Langer mesomelic dysplasia syndrome 0.000 dominant HG002 HG002 chrX:648918:T:C 2,.,. -1 -1 -1 0.00113982 1 3 SHOX 50_intron 18,.,. 1,.,. SHOX/intron/ Leri-Weill dyschondrosteosis;SHOX-related short stature;Langer mesomelic dysplasia syndrome 0.000 recessive HG002 HG002 chrX:648918:T:C 2,.,. -1 -1 -1 0.00113982 1 3 SHOX 50_intron 18,.,. 1,.,. SHOX/intron/ Leri-Weill dyschondrosteosis;SHOX-related short stature;Langer mesomelic dysplasia syndrome 0.000 recessive HG002 HG002 chrX:657523:G:A 1,.,. 0.000124939 0 19 -1 -1 -1 SHOX 50_intron 18,.,. 0.5,.,. SHOX/intron/ Leri-Weill dyschondrosteosis;SHOX-related short stature;Langer mesomelic dysplasia syndrome 0.000 dominant HG002 HG002 chrX:667967:TCA:T 1,.,. -1 -1 -1 0.00113982 1 3 8,.,. 0.375,.,. dominant HG002 HG002 chrX:667975:T:C 1,.,. -1 -1 -1 -1 -1 -1 8,.,. 0.375,.,. recessive HG002 HG002 chrX:667975:T:C 1,.,. -1 -1 -1 -1 -1 -1 8,.,. 0.375,.,. recessive HG002 HG002 chrX:769790:A:C 1,.,. 0.00139828 3 213 0.00151976 0 4 24,.,. 0.625,.,. dominant HG002 HG002 chrX:770703:C:CTACCTATCTATG 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.608696,.,. dominant HG002 HG002 chrX:790275:G:GTGTGTGT 1,.,. 3.90244e-05 0 2 -1 -1 -1 25,.,. 0.28,.,. recessive HG002 HG002 chrX:806979:T:TAGGGAGGAAAGAAAGAAGGAGGGAAGGAAGAAAGGAAGAAAGGG 1,.,. -1 -1 -1 0.0163374 2 43 24,.,. 0.25,.,. recessive HG002 HG002 chrX:815447:T:TTG 1,.,. 0.00654839 1 874 0.00303951 0 8 26,.,. 0.423077,.,. dominant HG002 HG002 chrX:827481:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.657895,.,. recessive HG002 HG002 chrX:827481:T:C 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.657895,.,. dominant HG002 HG002 chrX:827500:ATATCTATAATATATAT:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.641026,.,. dominant HG002 HG002 chrX:827517:C:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.641026,.,. recessive HG002 HG002 chrX:827517:C:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.641026,.,. dominant HG002 HG002 chrX:831972:AAGAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. recessive HG002 HG002 chrX:831972:AAGAAAG:A 1,.,. -1 -1 -1 -1 -1 -1 39,.,. 0.512821,.,. dominant HG002 HG002 chrX:831979:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. recessive HG002 HG002 chrX:831979:A:G 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.526316,.,. dominant HG002 HG002 chrX:872710:T:C 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.526316,.,. recessive HG002 HG002 chrX:884912:G:A 1,.,. 0.00263989 0 391 0.00265957 0 7 33,.,. 0.575758,.,. dominant HG002 HG002 chrX:904036:A:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.380952,.,. dominant HG002 HG002 chrX:904842:A:G 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.409091,.,. recessive HG002 HG002 chrX:904842:A:G 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.409091,.,. dominant HG002 HG002 chrX:904844:G:T 1,.,. 1.94852e-05 0 2 -1 -1 -1 23,.,. 0.391304,.,. dominant HG002 HG002 chrX:904847:T:C 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.454545,.,. recessive HG002 HG002 chrX:904847:T:C 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.454545,.,. recessive HG002 HG002 chrX:918482:G:C 1,.,. 0.001121 0 134 0.0159574 1 42 17,.,. 0.294118,.,. recessive HG002 HG002 chrX:919235:T:C 1,.,. 0.00119378 0 62 0.0269757 0 71 25,.,. 0.56,.,. recessive HG002 HG002 chrX:919379:ACTGCTGTTCACCTCGAATTCAAGTGTACCTGGGCACGCATCTGTT:A 1,.,. -1 -1 -1 0.00303951 0 8 25,.,. 0.56,.,. recessive HG002 HG002 chrX:944836:C:G 1,.,. 0.00104446 0 149 0.00341945 0 9 32,.,. 0.53125,.,. dominant HG002 HG002 chrX:945209:A:AATAG 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.483871,.,. dominant HG002 HG002 chrX:945558:GATAGATAGATAC:G 1,.,. 4.16701e-05 0 2 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chrX:945578:G:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. recessive HG002 HG002 chrX:945578:G:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chrX:950114:C:A 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.636364,.,. recessive HG002 HG002 chrX:950114:C:A 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.636364,.,. dominant HG002 HG002 chrX:950115:C:G 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.636364,.,. recessive HG002 HG002 chrX:950115:C:G 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.636364,.,. dominant HG002 HG002 chrX:961258:G:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.322581,.,. dominant HG002 HG002 chrX:963626:GTGTATATATACGTATATATGTGTATA:G 1,.,. 1.39923e-05 0 2 -1 -1 -1 32,.,. 0.375,.,. recessive HG002 HG002 chrX:969518:G:A 1,.,. 0.00427474 2 649 0.00455927 1 12 33,.,. 0.575758,.,. recessive HG002 HG002 chrX:971228:G:GCTCCATCTGGGGATCCTCCTACACTCTACAATAGACACACTCAATGTCCTCCATCTGGGGATCCACCTACACTCTACAATAGATACACTCAATGTCCTCCATCTGGGGATCCTCCTACACTCTACACTAGACACACTCAATGTCCTCCATCTGGGGATCCTCCTACACTCTACAATAGATACACTCAATGTC 1,.,. -1 -1 -1 0.00227964 0 6 30,.,. 0.333333,.,. recessive HG002 HG002 chrX:981518:G:A 1,.,. 0.00481717 1 733 0.00455927 0 12 25,.,. 0.52,.,. recessive HG002 HG002 chrX:990550:T:TTCTCTCTCTCTC 1,.,. -1 -1 -1 0.0129179 0 34 13,.,. 0.769231,.,. dominant HG002 HG002 chrX:1031063:A:G 2,.,. 1.12125e-05 0 1 0.00113982 1 3 19,.,. 1,.,. recessive HG002 HG002 chrX:1031063:A:G 2,.,. 1.12125e-05 0 1 0.00113982 1 3 19,.,. 1,.,. recessive HG002 HG002 chrX:1041618:A:G 1,.,. 0.000513421 0 78 -1 -1 -1 33,.,. 0.393939,.,. dominant HG002 HG002 chrX:1041692:G:GTATC 1,.,. -1 -1 -1 -1 -1 -1 32,.,. 0.625,.,. recessive HG002 HG002 chrX:1060453:G:T 1,.,. 0.00200822 2 305 0.000759878 0 2 27,.,. 0.703704,.,. recessive HG002 HG002 chrX:1085920:AC:A 1,.,. -1 -1 -1 0.0174772 2 46 20,.,. 0.4,.,. recessive HG002 HG002 chrX:1122652:C:G 1,.,. 0.000118691 0 18 -1 -1 -1 23,.,. 0.434783,.,. recessive HG002 HG002 chrX:1125370:TAGAC:T 1,.,. 0.00139402 0 210 0.00227964 0 6 21,.,. 0.47619,.,. recessive HG002 HG002 chrX:1127795:A:C 1,.,. -1 -1 -1 0.00759878 0 20 22,.,. 0.409091,.,. recessive HG002 HG002 chrX:1128082:CA:C 1,.,. 4.76145e-05 0 6 0.00341945 0 9 21,.,. 0.380952,.,. dominant HG002 HG002 chrX:1128274:C:A 1,.,. -1 -1 -1 0.00113982 0 3 22,.,. 0.363636,.,. recessive HG002 HG002 chrX:1128340:G:T 1,.,. -1 -1 -1 0.0239362 1 63 22,.,. 0.5,.,. recessive HG002 HG002 chrX:1137942:C:T 1,.,. 0.000105206 0 16 -1 -1 -1 18,.,. 0.611111,.,. dominant HG002 HG002 chrX:1142260:ACACACACACACACAC:A 1,.,. -1 -1 -1 -1 -1 -1 12,.,. 0.5,.,. dominant HG002 HG002 chrX:1142409:C:G 1,.,. 6.12632e-05 0 4 -1 -1 -1 12,.,. 0.5,.,. dominant HG002 HG002 chrX:1142410:G:A 1,.,. 2.88052e-05 0 2 -1 -1 -1 12,.,. 0.5,.,. dominant HG002 HG002 chrX:1142510:C:T 1,.,. -1 -1 -1 -1 -1 -1 12,.,. 0.5,.,. recessive HG002 HG002 chrX:1142992:G:T 1,.,. 2.37254e-05 0 2 0.0178571 0 47 12,.,. 0.5,.,. recessive HG002 HG002 chrX:1143001:C:T 1,.,. 2.08017e-05 0 2 0.018997 1 50 12,.,. 0.5,.,. dominant HG002 HG002 chrX:1143544:C:A 1,.,. -1 -1 -1 -1 -1 -1 7,.,. 0.571429,.,. dominant HG002 HG002 chrX:1143675:TCACACACACACACACA:T 1,.,. -1 -1 -1 -1 -1 -1 8,.,. 0.75,.,. dominant HG002 HG002 chrX:1143694:C:A 1,.,. -1 -1 -1 0.00113982 0 3 13,.,. 0.461538,.,. recessive HG002 HG002 chrX:1143694:C:A 1,.,. -1 -1 -1 0.00113982 0 3 13,.,. 0.461538,.,. recessive HG002 HG002 chrX:1143951:T:TCAAACACACACACACA 1,.,. -1 -1 -1 0.00835866 0 22 11,.,. 0.545455,.,. recessive HG002 HG002 chrX:1145712:G:A 1,.,. 0.000289947 0 44 -1 -1 -1 12,.,. 0.333333,.,. recessive HG002 HG002 chrX:1148430:C:T 1,.,. 0.00201115 2 238 0.000759878 0 2 13,.,. 0.692308,.,. dominant HG002 HG002 chrX:1176353:T:A 1,.,. -1 -1 -1 -1 -1 -1 15,.,. 0.4,.,. dominant HG002 HG002 chrX:1178271:TA:T 1,.,. 1.45603e-05 0 1 -1 -1 -1 16,.,. 0.6875,.,. recessive HG002 HG002 chrX:1178271:TA:T 1,.,. 1.45603e-05 0 1 -1 -1 -1 16,.,. 0.6875,.,. dominant HG002 HG002 chrX:1178273:A:T 1,.,. -1 -1 -1 0.00113982 0 3 16,.,. 0.6875,.,. recessive HG002 HG002 chrX:1178273:A:T 1,.,. -1 -1 -1 0.00113982 0 3 16,.,. 0.6875,.,. recessive HG002 HG002 chrX:1186873:A:C 1,.,. 0.000237092 0 36 -1 -1 -1 23,.,. 0.695652,.,. recessive HG002 HG002 chrX:1187957:A:G 2,.,. 0.000300913 0 28 0.0155775 0 41 CRLF2 50_intron 23,.,. 1,.,. CRLF2/intron/ dominant HG002 HG002 chrX:1195759:T:TA 1,.,. -1 -1 -1 0.00113982 0 3 CRLF2 50_intron 24,.,. 0.5,.,. CRLF2/intron/ recessive HG002 HG002 chrX:1195759:T:TA 1,.,. -1 -1 -1 0.00113982 0 3 CRLF2 50_intron 24,.,. 0.5,.,. CRLF2/intron/ dominant HG002 HG002 chrX:1195763:A:T 1,.,. -1 -1 -1 0.00113982 0 3 CRLF2 50_intron 23,.,. 0.521739,.,. CRLF2/intron/ recessive HG002 HG002 chrX:1195763:A:T 1,.,. -1 -1 -1 0.00113982 0 3 CRLF2 50_intron 23,.,. 0.521739,.,. CRLF2/intron/ dominant HG002 HG002 chrX:1195764:T:A 1,.,. -1 -1 -1 0.00113982 0 3 CRLF2 50_intron 24,.,. 0.5,.,. CRLF2/intron/ recessive HG002 HG002 chrX:1195764:T:A 1,.,. -1 -1 -1 0.00113982 0 3 CRLF2 50_intron 24,.,. 0.5,.,. CRLF2/intron/ recessive HG002 HG002 chrX:1212742:C:G 1,.,. 0.000286354 0 43 -1 -1 -1 13,.,. 0.461538,.,. dominant HG002 HG002 chrX:1213267:T:C 2,.,. -1 -1 -1 0.00151976 1 4 12,.,. 1,.,. dominant HG002 HG002 chrX:1244599:G:GAGGGAAGGGAAGGGA 1,.,. -1 -1 -1 -1 -1 -1 12,.,. 0.333333,.,. recessive HG002 HG002 chrX:1279070:C:T 1,.,. 0.000455708 1 67 -1 -1 -1 CSF2RA 50_intron 20,.,. 0.6,.,. CSF2RA/intron/;CSF2RA/non_coding/ Surfactant metabolism dysfunction, pulmonary, 4 0.000 recessive HG002 HG002 chrX:1287316:G:C 1,.,. 0.000589014 0 89 -1 -1 -1 CSF2RA 50_intron 18,.,. 0.555556,.,. CSF2RA/intron/;CSF2RA/non_coding/ Surfactant metabolism dysfunction, pulmonary, 4 0.000 recessive HG002 HG002 chrX:1304205:G:A 1,.,. -1 -1 -1 0.0151976 1 40 CSF2RA 50_intron 20,.,. 0.3,.,. CSF2RA/intron/;CSF2RA/non_coding/ Surfactant metabolism dysfunction, pulmonary, 4 0.000 recessive HG002 HG002 chrX:1307328:A:G 1,.,. 0.000808073 0 123 0.000759878 0 2 CSF2RA 50_intron 17,.,. 0.294118,.,. CSF2RA/intron/;CSF2RA/non_coding/ Surfactant metabolism dysfunction, pulmonary, 4 0.000 recessive HG002 HG002 chrX:1316059:AATAG:A 1,.,. 0.00131422 1 196 0.00151976 0 4 11,.,. 0.545455,.,. recessive HG002 HG002 chrX:1341545:T:C 1,.,. -1 -1 -1 0.0182371 0 48 IL3RA 50_intron 26,.,. 0.576923,.,. IL3RA/intron/ dominant HG002 HG002 chrX:1341546:G:T 1,.,. -1 -1 -1 -1 -1 -1 IL3RA 50_intron 26,.,. 0.576923,.,. IL3RA/intron/ recessive HG002 HG002 chrX:1341546:G:T 1,.,. -1 -1 -1 -1 -1 -1 IL3RA 50_intron 26,.,. 0.576923,.,. IL3RA/intron/ recessive HG002 HG002 chrX:1341547:TGC:T 1,.,. 0.00112088 0 26 -1 -1 -1 IL3RA 50_intron 26,.,. 0.576923,.,. IL3RA/intron/ dominant HG002 HG002 chrX:1341550:A:C 1,.,. -1 -1 -1 -1 -1 -1 IL3RA 50_intron 26,.,. 0.576923,.,. IL3RA/intron/ recessive HG002 HG002 chrX:1341550:A:C 1,.,. -1 -1 -1 -1 -1 -1 IL3RA 50_intron 26,.,. 0.576923,.,. IL3RA/intron/ recessive HG002 HG002 chrX:1343278:C:T 1,.,. 0.005128 3 780 0.00379939 0 10 IL3RA 50_intron 25,.,. 0.52,.,. IL3RA/intron/ recessive HG002 HG002 chrX:1353980:C:CT 1,.,. 0.000107123 0 15 -1 -1 -1 IL3RA 50_intron 13,.,. 0.384615,.,. IL3RA/intron/ dominant HG002 HG002 chrX:1365963:A:AGCGGGGTGCGCGGGGTGAGCCGGGTGC 1,.,. -1 -1 -1 -1 -1 -1 IL3RA 50_intron 10,.,. 0.2,.,. IL3RA/intron/ dominant HG002 HG002 chrX:1366542:G:GGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCA 1,.,. 1.55231e-05 0 1 0.00113982 0 3 IL3RA 50_intron 11,.,. 0.545455,.,. IL3RA/intron/ recessive HG002 HG002 chrX:1366542:G:GGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCA 1,.,. 1.55231e-05 0 1 0.00113982 0 3 IL3RA 50_intron 11,.,. 0.545455,.,. IL3RA/intron/ dominant HG002 HG002 chrX:1366579:GGGTGAGCGGGGTGCGC:G 1,.,. -1 -1 -1 -1 -1 -1 IL3RA 50_intron 10,.,. 0.2,.,. IL3RA/intron/ recessive HG002 HG002 chrX:1366612:G:C 1,.,. 0.000292963 0 10 0.00113982 0 3 IL3RA 50_intron 10,.,. 0.2,.,. IL3RA/intron/ dominant HG002 HG002 chrX:1416390:C:CACAG 1,.,. -1 -1 -1 -1 -1 -1 ASMTL 50_intron 27,.,. 0.592593,.,. ASMTL/intron/ recessive HG002 HG002 chrX:1417653:A:T 1,.,. 0.000178536 0 27 -1 -1 -1 ASMTL 50_intron 28,.,. 0.607143,.,. ASMTL/intron/ recessive HG002 HG002 chrX:1418092:T:G 1,.,. 0.00123492 1 188 -1 -1 -1 ASMTL 14_missense 27,.,. 0.407407,.,. ASMTL/missense/ENST00000381317;ASMTL/missense/ENST00000534940;ASMTL/missense/ENST00000381333 dominant HG002 HG002 chrX:1461881:G:T 2,.,. -1 -1 -1 0.000759878 0 2 22,.,. 1,.,. recessive HG002 HG002 chrX:1476477:C:T 1,.,. 0.000131968 0 20 0.000759878 0 2 P2RY8 50_intron 19,.,. 0.421053,.,. P2RY8/intron/ recessive HG002 HG002 chrX:1477199:A:G 2,.,. 0.000868909 1 129 -1 -1 -1 P2RY8 50_intron 19,.,. 1,.,. P2RY8/intron/ dominant HG002 HG002 chrX:1493405:A:G 1,.,. -1 -1 -1 -1 -1 -1 P2RY8 50_intron 19,.,. 0.684211,.,. P2RY8/intron/ recessive HG002 HG002 chrX:1540985:G:A 1,.,. 0.000256333 0 39 0.000759878 0 2 31,.,. 0.451613,.,. dominant HG002 HG002 chrX:1548842:T:TCACACACACACA 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. recessive HG002 HG002 chrX:1548842:T:TCACACACACACA 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chrX:1553559:TTGTA:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.428571,.,. recessive HG002 HG002 chrX:1553559:TTGTA:T 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.428571,.,. dominant HG002 HG002 chrX:1558634:T:TATCTATCATCTATCTA 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.448276,.,. dominant HG002 HG002 chrX:1569439:A:AAATAATAATAAT 1,.,. -1 -1 -1 -1 -1 -1 14,.,. 0.785714,.,. dominant HG002 HG002 chrX:1569439:A:AAATAATAATAATAAT 1,.,. -1 -1 -1 -1 -1 -1 13,.,. 0.769231,.,. recessive HG002 HG002 chrX:1575723:G:C 1,.,. 0.000118354 0 18 -1 -1 -1 23,.,. 0.478261,.,. dominant HG002 HG002 chrX:1577756:A:G 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.545455,.,. recessive HG002 HG002 chrX:1577756:A:G 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.545455,.,. dominant HG002 HG002 chrX:1624688:A:C 1,.,. -1 -1 -1 -1 -1 -1 ASMT 50_intron 17,.,. 0.529412,.,. ASMT/intron/ recessive HG002 HG002 chrX:1624688:A:C 1,.,. -1 -1 -1 -1 -1 -1 ASMT 50_intron 17,.,. 0.529412,.,. ASMT/intron/ dominant HG002 HG002 chrX:1624689:C:A 1,.,. -1 -1 -1 -1 -1 -1 ASMT 50_intron 18,.,. 0.5,.,. ASMT/intron/ recessive HG002 HG002 chrX:1624689:C:A 1,.,. -1 -1 -1 -1 -1 -1 ASMT 50_intron 18,.,. 0.5,.,. ASMT/intron/ dominant HG002 HG002 chrX:1656517:G:A 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chrX:1656527:A:G 1,.,. 1.39595e-05 0 2 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chrX:1656532:T:TATACAC 1,.,. -1 -1 -1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chrX:1656542:T:TACAC 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.5,.,. dominant HG002 HG002 chrX:1656556:T:C 1,.,. 8.21193e-06 0 1 -1 -1 -1 29,.,. 0.517241,.,. dominant HG002 HG002 chrX:1656738:CACATAT:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. recessive HG002 HG002 chrX:1656738:CACATAT:C 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.533333,.,. dominant HG002 HG002 chrX:1656751:A:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. recessive HG002 HG002 chrX:1656751:A:G 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.566667,.,. recessive HG002 HG002 chrX:1656756:T:C 1,.,. 4.67342e-05 0 5 -1 -1 -1 30,.,. 0.566667,.,. recessive HG002 HG002 chrX:1669261:C:T 1,.,. 0.000184235 0 28 -1 -1 -1 24,.,. 0.75,.,. dominant HG002 HG002 chrX:1679066:C:CGGA 1,.,. -1 -1 -1 -1 -1 -1 7,.,. 0.428571,.,. recessive HG002 HG002 chrX:1679066:C:CGGA 1,.,. -1 -1 -1 -1 -1 -1 7,.,. 0.428571,.,. dominant HG002 HG002 chrX:1739263:G:T 1,.,. 1.25122e-05 0 1 -1 -1 -1 9,.,. 0.666667,.,. recessive HG002 HG002 chrX:1739263:G:T 1,.,. 1.25122e-05 0 1 -1 -1 -1 9,.,. 0.666667,.,. dominant HG002 HG002 chrX:1753572:T:TG 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. recessive HG002 HG002 chrX:1753572:T:TG 1,.,. -1 -1 -1 -1 -1 -1 30,.,. 0.433333,.,. recessive HG002 HG002 chrX:1771088:C:T 1,.,. 0.00208233 1 294 0.00341945 0 9 20,.,. 0.6,.,. recessive HG002 HG002 chrX:1778822:C:T 1,.,. 0.000611078 0 93 0.000759878 0 2 32,.,. 0.4375,.,. recessive HG002 HG002 chrX:1780348:G:A 1,.,. 0.005004 3 738 0.00265957 0 7 32,.,. 0.40625,.,. dominant HG002 HG002 chrX:1786323:C:A 1,.,. -1 -1 -1 -1 -1 -1 35,.,. 0.542857,.,. dominant HG002 HG002 chrX:1790725:A:AAAAAAAAAAC 1,.,. 2.01951e-05 0 2 0.000759878 0 2 32,.,. 0.21875,.,. recessive HG002 HG002 chrX:1790737:A:C 1,.,. 0.00120744 1 174 0.00227964 0 6 34,.,. 0.323529,.,. recessive HG002 HG002 chrX:1842185:C:A 1,.,. 0.000210374 0 32 -1 -1 -1 30,.,. 0.466667,.,. recessive HG002 HG002 chrX:1910734:CTCTG:C 1,.,. 0.0036627 0 524 0.0163374 1 43 33,.,. 0.545455,.,. dominant HG002 HG002 chrX:1911166:T:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chrX:1911170:C:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chrX:1911174:C:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chrX:1911174:C:T 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chrX:1911186:G:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chrX:1911186:G:C 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chrX:1911192:C:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chrX:1911192:C:G 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chrX:1916798:ATAGTC:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. recessive HG002 HG002 chrX:1916798:ATAGTC:A 1,.,. -1 -1 -1 -1 -1 -1 31,.,. 0.419355,.,. dominant HG002 HG002 chrX:2137316:A:G 1,.,. -1 -1 -1 -1 -1 -1 15,.,. 0.533333,.,. recessive HG002 HG002 chrX:2141269:A:G 1,.,. 0.00181828 0 68 0.00113982 0 3 21,.,. 0.380952,.,. dominant HG002 HG002 chrX:2166288:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.555556,.,. recessive HG002 HG002 chrX:2166288:G:GGT 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.555556,.,. dominant HG002 HG002 chrX:2184806:A:T 1,.,. 9.73748e-06 0 1 -1 -1 -1 28,.,. 0.5,.,. recessive HG002 HG002 chrX:2184806:A:T 1,.,. 9.73748e-06 0 1 -1 -1 -1 28,.,. 0.5,.,. dominant HG002 HG002 chrX:2185882:C:CAACAGAAGGTACCATTCCCGGCAAGTGGGTCACCGCCTTT 1,.,. -1 -1 -1 -1 -1 -1 26,.,. 0.307692,.,. dominant HG002 HG002 chrX:2202006:G:T 1,.,. -1 -1 -1 0.000759878 0 2 16,.,. 0.5,.,. dominant HG002 HG002 chrX:2202008:T:G 1,.,. -1 -1 -1 0.000759878 0 2 16,.,. 0.5,.,. recessive HG002 HG002 chrX:2252966:G:A 1,.,. 0.000394047 0 60 0.000759878 0 2 DHRSX 50_intron 30,.,. 0.566667,.,. DHRSX/intron/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2259134:G:A 1,.,. 0.000164619 0 25 -1 -1 -1 DHRSX 50_intron 30,.,. 0.466667,.,. DHRSX/intron/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2270888:G:A 1,.,. 0.00028289 0 32 -1 -1 -1 DHRSX 50_intron 18,.,. 0.666667,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2270893:A:G 1,.,. 0.000328212 0 37 -1 -1 -1 DHRSX 50_intron 18,.,. 0.666667,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2270973:G:C 1,.,. 0.00461691 3 699 0.00227964 0 6 DHRSX 50_intron 19,.,. 0.684211,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD dominant HG002 HG002 chrX:2277500:G:A 1,.,. -1 -1 -1 -1 -1 -1 DHRSX 50_intron 23,.,. 0.391304,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD dominant HG002 HG002 chrX:2282788:GAGAGAAGAA:G 1,.,. 1.23833e-05 0 1 -1 -1 -1 DHRSX 50_intron 25,.,. 0.44,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2287361:C:T 1,.,. 0.000118666 0 18 -1 -1 -1 DHRSX 50_intron 28,.,. 0.392857,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2288726:A:G 1,.,. 0.000282471 0 43 -1 -1 -1 DHRSX 50_intron 30,.,. 0.666667,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2289221:G:A 1,.,. 0.000138471 0 21 -1 -1 -1 DHRSX 50_intron 29,.,. 0.275862,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2294493:C:T 1,.,. 0.000111888 0 17 -1 -1 -1 DHRSX 50_intron 32,.,. 0.34375,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2295326:C:T 1,.,. 0.00011178 0 17 -1 -1 -1 DHRSX 50_intron 31,.,. 0.387097,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2298600:GTACACACACACA:G 1,.,. 0.00333127 1 151 0.00113982 0 3 DHRSX 50_intron 30,.,. 0.466667,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2308697:C:T 1,.,. 0.00159033 1 235 0.000759878 0 2 DHRSX 50_intron 22,.,. 0.545455,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD dominant HG002 HG002 chrX:2345382:CCTATAA:C 1,.,. -1 -1 -1 -1 -1 -1 DHRSX 50_intron 41,.,. 0.585366,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2345382:CCTATAA:C 1,.,. -1 -1 -1 -1 -1 -1 DHRSX 50_intron 41,.,. 0.585366,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD dominant HG002 HG002 chrX:2345390:C:T 1,.,. -1 -1 -1 -1 -1 -1 DHRSX 50_intron 40,.,. 0.6,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2345390:C:T 1,.,. -1 -1 -1 -1 -1 -1 DHRSX 50_intron 40,.,. 0.6,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD dominant HG002 HG002 chrX:2345391:C:T 1,.,. -1 -1 -1 -1 -1 -1 DHRSX 50_intron 39,.,. 0.615385,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2345391:C:T 1,.,. -1 -1 -1 -1 -1 -1 DHRSX 50_intron 39,.,. 0.615385,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2345392:C:G 1,.,. -1 -1 -1 0.0087386 0 23 DHRSX 50_intron 39,.,. 0.615385,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2345393:A:G 1,.,. -1 -1 -1 0.0087386 0 23 DHRSX 50_intron 40,.,. 0.625,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD dominant HG002 HG002 chrX:2385136:G:GTGTGTGTGTA 1,.,. -1 -1 -1 -1 -1 -1 DHRSX 50_intron 30,.,. 0.233333,.,. DHRSX/intron/;DHRSX/non_coding/ Congenital disorder of glycosylation, type 1DD recessive HG002 HG002 chrX:2486803:G:A 1,.,. 0.000295365 0 45 -1 -1 -1 ZBED1 36_3_prime_utr 24,.,. 0.5,.,. ZBED1/3_prime_utr/ENST00000381222;ZBED1/3_prime_utr/ENST00000381223;ZBED1/3_prime_utr/ENST00000652001 recessive HG002 HG002 chrX:2487388:G:A 1,.,. 0.000486919 0 74 -1 -1 -1 ZBED1 36_3_prime_utr 24,.,. 0.5,.,. ZBED1/3_prime_utr/ENST00000381222;ZBED1/3_prime_utr/ENST00000381223;ZBED1/3_prime_utr/ENST00000652001 recessive HG002 HG002 chrX:2487943:G:T 1,.,. 0.00399963 2 608 0.00341945 0 9 ZBED1 36_3_prime_utr 23,.,. 0.434783,.,. ZBED1/3_prime_utr/ENST00000381222;ZBED1/3_prime_utr/ENST00000381223;ZBED1/3_prime_utr/ENST00000652001 recessive HG002 HG002 chrX:2529059:T:C 1,.,. 3.94213e-05 0 6 -1 -1 -1 37,.,. 0.459459,.,. dominant HG002 HG002 chrX:2609186:C:T 1,.,. 6.57056e-06 0 1 -1 -1 -1 29,.,. 0.413793,.,. recessive HG002 HG002 chrX:2609186:C:T 1,.,. 6.57056e-06 0 1 -1 -1 -1 29,.,. 0.413793,.,. recessive HG002 HG002 chrX:2618501:TTC:T 1,.,. 0.000116703 0 8 -1 -1 -1 CD99P1 53_non_coding 39,.,. 0.410256,.,. CD99P1/non_coding/ recessive HG002 HG002 chrX:2618507:C:T 1,.,. 0.000373101 1 25 0.0018997 0 5 CD99P1 53_non_coding 39,.,. 0.435897,.,. CD99P1/non_coding/ dominant HG002 HG002 chrX:2632001:A:G 2,.,. -1 -1 -1 -1 -1 -1 CD99P1 53_non_coding 31,.,. 1,.,. CD99P1/non_coding/ recessive HG002 HG002 chrX:2632001:A:G 2,.,. -1 -1 -1 -1 -1 -1 CD99P1 53_non_coding 31,.,. 1,.,. CD99P1/non_coding/ dominant HG002 HG002 chrX:2632002:T:A 2,.,. -1 -1 -1 0.000759878 0 2 CD99P1 53_non_coding 31,.,. 1,.,. CD99P1/non_coding/ recessive HG002 HG002 chrX:2632002:T:A 2,.,. -1 -1 -1 0.000759878 0 2 CD99P1 53_non_coding 31,.,. 1,.,. CD99P1/non_coding/ recessive HG002 HG002 chrX:2691457:G:C 1,.,. 0.00394606 3 601 0.00303951 0 8 CD99 50_intron 26,.,. 0.5,.,. CD99/intron/;CD99/non_coding/ recessive HG002 HG002 chrX:2736201:CAAAA:C 1,.,. 0.00074638 0 60 -1 -1 -1 CD99 50_intron 21,.,. 0.285714,.,. CD99/intron/ recessive HG002 HG002 chrX:2740118:G:A 1,.,. 0.000125871 0 19 -1 -1 -1 CD99 50_intron 25,.,. 0.72,.,. CD99/intron/ recessive HG002 HG002 chrX:2748036:C:T 1,.,. 0.00311494 4 474 0.00303951 0 8 21,.,. 0.238095,.,. recessive HG002 HG002 chrX:2773505:A:G 1,.,. 0.0016027 0 184 0.00455927 0 12 XG 50_intron 27,.,. 0.407407,.,. XG/intron/;XG/non_coding/ recessive HG002 HG002 chrX:2776425:A:G 1,.,. 0.0088245 2 1343 0.00493921 0 13 XG 50_intron 24,.,. 0.5,.,. XG/intron/ dominant HG002 HG002 chrX:2812078:A:AGCCAAATATAGT 2,.,. -1 -1 -1 -1 -1 -1 XG 50_intron 13,.,. 1,.,. XG/intron/ dominant HG002 HG002 chrX:2812079:C:T 2,.,. -1 -1 -1 -1 -1 -1 XG 50_intron 15,.,. 1,.,. XG/intron/ recessive HG002 HG002 chrX:2812079:C:T 2,.,. -1 -1 -1 -1 -1 -1 XG 50_intron 15,.,. 1,.,. XG/intron/ dominant HG002 HG002 chrX:2817102:A:AGACAGAGAGGGAGGGAGG 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chrX:2847725:A:T 2,.,. -1 -1 -1 -1 -1 -1 GYG2 50_intron 22,.,. 1,.,. GYG2/intron/;GYG2/non_coding/ recessive HG002 HG002 chrX:2847725:A:T 2,.,. -1 -1 -1 -1 -1 -1 GYG2 50_intron 22,.,. 1,.,. GYG2/intron/;GYG2/non_coding/ dominant HG002 HG002 chrX:2919813:G:C 2,.,. -1 -1 -1 -1 -1 -1 ARSD 50_intron 10,.,. 1,.,. ARSD/intron/;ARSD/non_coding/ recessive HG002 HG002 chrX:2919813:G:C 2,.,. -1 -1 -1 -1 -1 -1 ARSD 50_intron 10,.,. 1,.,. ARSD/intron/;ARSD/non_coding/ dominant HG002 HG002 chrX:2919814:TTGTTGAAACTC:T 2,.,. -1 -1 -1 -1 -1 -1 ARSD 50_intron 10,.,. 1,.,. ARSD/intron/;ARSD/non_coding/ recessive HG002 HG002 chrX:2919814:TTGTTGAAACTC:T 2,.,. -1 -1 -1 -1 -1 -1 ARSD 50_intron 10,.,. 1,.,. ARSD/intron/;ARSD/non_coding/ dominant HG002 HG002 chrX:3121230:T:TAGAC 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:3121230:T:TAGAC 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:3121393:C:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:3121393:C:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:3121394:T:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:3121394:T:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:3121396:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:3121396:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:3340994:C:T 2,.,. 0.00225465 1 159 -1 -1 -1 MXRA5 50_intron 16,.,. 1,.,. MXRA5/intron/ dominant HG002 HG002 chrX:3618634:A:T 2,.,. 1.06194e-05 0 1 -1 -1 -1 PRKX 50_intron 14,.,. 1,.,. PRKX/intron/;PRKX/non_coding/ recessive HG002 HG002 chrX:3618634:A:T 2,.,. 1.06194e-05 0 1 -1 -1 -1 PRKX 50_intron 14,.,. 1,.,. PRKX/intron/;PRKX/non_coding/ recessive HG002 HG002 chrX:3745502:C:A 2,.,. 8.07131e-05 2 9 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:3774569:G:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chrX:3774569:G:A 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chrX:3996048:C:A 1,.,. -1 -1 -1 0.00495049 0 9 21,.,. 0.428571,.,. dominant HG002 HG002 chrX:3996123:A:T 1,.,. -1 -1 -1 -1 -1 -1 21,.,. 0.571429,.,. recessive HG002 HG002 chrX:4217286:T:A 2,.,. 0.00743512 3 155 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:4217288:T:A 2,.,. 0.00455556 4 125 0.00165017 0 3 18,.,. 1,.,. recessive HG002 HG002 chrX:4426445:A:T 2,.,. 0.000107509 2 12 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:4830420:T:C 2,.,. 0.000107384 1 12 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:4854673:G:T 2,.,. 8.98634e-05 1 10 -1 -1 -1 12,.,. 1,.,. dominant HG002 HG002 chrX:5098786:CAGAGTTTCG:C 2,.,. 9.44671e-06 0 1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:5098786:CAGAGTTTCG:C 2,.,. 9.44671e-06 0 1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:5098796:G:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:5098796:G:C 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:5208278:G:A 2,.,. 1.79414e-05 0 2 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:5208278:G:A 2,.,. 1.79414e-05 0 2 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:5314008:G:A 2,.,. 9.91438e-05 1 11 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:5351698:G:A 2,.,. 0.000103888 1 11 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:5501979:G:A 2,.,. 0.000117172 1 13 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:5646298:C:T 2,.,. 0.000160449 2 10 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:5654064:C:A 2,.,. 4.4016e-05 0 3 0.00385039 4 7 23,.,. 1,.,. dominant HG002 HG002 chrX:5675238:C:CTGTAACCTCAGTT 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:5675238:C:CTGTAACCTCAGTT 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:5675240:T:TGG 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:5675240:T:TGG 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:5675241:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:5675241:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:5854067:A:AGATTATT 2,.,. -1 -1 -1 -1 -1 -1 NLGN4X 53_non_coding 22,.,. 1,.,. NLGN4X/non_coding/ Autism, susceptibility to, X-linked 2 0.000 recessive HG002 HG002 chrX:5854067:A:AGATTATT 2,.,. -1 -1 -1 -1 -1 -1 NLGN4X 53_non_coding 22,.,. 1,.,. NLGN4X/non_coding/ Autism, susceptibility to, X-linked 2 0.000 dominant HG002 HG002 chrX:5854068:A:T 2,.,. -1 -1 -1 -1 -1 -1 NLGN4X 53_non_coding 22,.,. 1,.,. NLGN4X/non_coding/ Autism, susceptibility to, X-linked 2 0.000 recessive HG002 HG002 chrX:5854068:A:T 2,.,. -1 -1 -1 -1 -1 -1 NLGN4X 53_non_coding 22,.,. 1,.,. NLGN4X/non_coding/ Autism, susceptibility to, X-linked 2 0.000 recessive HG002 HG002 chrX:5974004:T:C 2,.,. 6.26948e-05 1 7 -1 -1 -1 NLGN4X 50_intron 24,.,. 1,.,. NLGN4X/intron/ Autism, susceptibility to, X-linked 2 0.000 dominant HG002 HG002 chrX:6013529:GGA:G 2,.,. -1 -1 -1 -1 -1 -1 NLGN4X 50_intron 20,.,. 1,.,. NLGN4X/intron/ Autism, susceptibility to, X-linked 2 0.000 recessive HG002 HG002 chrX:6013529:GGA:G 2,.,. -1 -1 -1 -1 -1 -1 NLGN4X 50_intron 20,.,. 1,.,. NLGN4X/intron/ Autism, susceptibility to, X-linked 2 0.000 dominant HG002 HG002 chrX:6330854:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:6330854:G:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:6775504:T:TATACACAC 2,.,. 6.94417e-05 3 7 -1 -1 -1 PUDP 50_intron 9,.,. 1,.,. PUDP/intron/ dominant HG002 HG002 chrX:8105992:G:A 2,.,. 3.59005e-05 0 4 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:8105992:G:A 2,.,. 3.59005e-05 0 4 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:8280814:T:TACACAGATGTATATATATACACAGATGTATATATATACACAGATGTATATATATACACAGATGTGTATATATACACAGATGTATATATACACAGATGTGTATATATACACAGATGTATATATACACAGATGTATATATACACAGATGTATATATACACAGATGTATATATATACAGATGTATATATATACACAGATGTGTATATATATACACAGATGTATATATGTACACAGATGTGTATATATATACACAGATGTATATATACACAGATGTGTATATATATAC 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chrX:8293073:G:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrX:8293073:G:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrX:8465308:T:G 2,.,. 0.0059318 2 561 0.00880088 4 16 VCX3B 35_5_prime_utr 11,.,. 1,.,. VCX3B/5_prime_utr/ENST00000453306;VCX3B/5_prime_utr/ENST00000381032;VCX3B/5_prime_utr/ENST00000444481 recessive HG002 HG002 chrX:8575900:T:C 2,.,. 7.24887e-05 1 8 -1 -1 -1 ANOS1 50_intron 15,.,. 1,.,. ANOS1/intron/ Hypogonadotropic hypogonadism 1 with or without anosmia 0.000 dominant HG002 HG002 chrX:8794864:G:A 2,.,. 8.95423e-06 0 1 -1 -1 -1 FAM9A 50_intron 21,.,. 1,.,. FAM9A/intron/ recessive HG002 HG002 chrX:8794864:G:A 2,.,. 8.95423e-06 0 1 -1 -1 -1 FAM9A 50_intron 21,.,. 1,.,. FAM9A/intron/ recessive HG002 HG002 chrX:8873211:T:C 2,.,. 7.14037e-05 1 8 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:8938329:T:C 2,.,. 8.03242e-05 1 9 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chrX:9271032:G:A 2,.,. -1 -1 -1 -1 -1 -1 FAM9B 50_intron 10,.,. 1,.,. FAM9B/intron/ dominant HG002 HG002 chrX:9271036:A:G 2,.,. -1 -1 -1 -1 -1 -1 FAM9B 50_intron 10,.,. 1,.,. FAM9B/intron/ recessive HG002 HG002 chrX:9404605:G:T 1,.,. -1 -1 -1 0.00495049 0 9 AC073488.1 53_non_coding 20,.,. 0.35,.,. AC073488.1/non_coding/ recessive HG002 HG002 chrX:9405565:T:C 1,.,. 0.0224791 0 1954 0.00990099 0 18 AC073488.7 53_non_coding 25,.,. 0.44,.,. AC073488.7/non_coding/ recessive HG002 HG002 chrX:9406058:T:C 1,.,. 7.37361e-05 0 8 0.00220022 0 4 AC073488.9 53_non_coding 26,.,. 0.423077,.,. AC073488.9/non_coding/ recessive HG002 HG002 chrX:9406059:G:C 1,.,. 7.39064e-05 0 8 0.00715072 0 13 AC073488.9 53_non_coding 26,.,. 0.423077,.,. AC073488.9/non_coding/ recessive HG002 HG002 chrX:9406314:G:C 1,.,. -1 -1 -1 0.00660066 1 12 AC073488.9 53_non_coding 26,.,. 0.384615,.,. AC073488.9/non_coding/ recessive HG002 HG002 chrX:9407073:T:A 1,.,. -1 -1 -1 0.00715072 1 13 AC073488.8 53_non_coding 24,.,. 0.458333,.,. AC073488.8/non_coding/ recessive HG002 HG002 chrX:9408316:G:A 1,.,. -1 -1 -1 0.00275027 1 5 AC073488.10 53_non_coding 24,.,. 0.458333,.,. AC073488.10/non_coding/ dominant HG002 HG002 chrX:9408361:T:G 1,.,. -1 -1 -1 0.00220022 0 4 AC073488.10 53_non_coding 23,.,. 0.478261,.,. AC073488.10/non_coding/ recessive HG002 HG002 chrX:9408361:T:G 1,.,. -1 -1 -1 0.00220022 0 4 AC073488.10 53_non_coding 23,.,. 0.478261,.,. AC073488.10/non_coding/ recessive HG002 HG002 chrX:9410395:G:T 1,.,. -1 -1 -1 0.0110011 0 20 AC073488.11 53_non_coding 25,.,. 0.48,.,. AC073488.11/non_coding/ recessive HG002 HG002 chrX:9754440:G:A 2,.,. 0.000107871 4 12 0.00110011 1 2 GPR143 50_intron 17,.,. 1,.,. GPR143/intron/;GPR143/non_coding/ Nystagmus 6, congenital, X-linked;Ocular albinism, type I 0.000 dominant HG002 HG002 chrX:9768312:A:G 2,.,. 2.67893e-05 0 3 -1 -1 -1 GPR143 50_intron 14,.,. 1,.,. GPR143/intron/ Nystagmus 6, congenital, X-linked;Ocular albinism, type I 0.000 recessive HG002 HG002 chrX:9768312:A:G 2,.,. 2.67893e-05 0 3 -1 -1 -1 GPR143 50_intron 14,.,. 1,.,. GPR143/intron/ Nystagmus 6, congenital, X-linked;Ocular albinism, type I 0.000 dominant HG002 HG002 chrX:9964741:G:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. dominant HG002 HG002 chrX:10388498:CTTCCATAA:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:10388498:CTTCCATAA:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chrX:10388507:A:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:10388507:A:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chrX:10388509:A:G 2,.,. 2.67754e-05 0 3 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:10388509:A:G 2,.,. 2.67754e-05 0 3 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chrX:11277388:T:TAC 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP6 50_intron 21,.,. 1,.,. ARHGAP6/intron/;ARHGAP6/non_coding/ recessive HG002 HG002 chrX:11277388:T:TAC 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP6 50_intron 21,.,. 1,.,. ARHGAP6/intron/;ARHGAP6/non_coding/ dominant HG002 HG002 chrX:11444737:C:A 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP6 50_intron 26,.,. 1,.,. ARHGAP6/intron/;ARHGAP6/non_coding/ recessive HG002 HG002 chrX:11444737:C:A 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP6 50_intron 26,.,. 1,.,. ARHGAP6/intron/;ARHGAP6/non_coding/ dominant HG002 HG002 chrX:11444738:A:C 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP6 50_intron 26,.,. 1,.,. ARHGAP6/intron/;ARHGAP6/non_coding/ recessive HG002 HG002 chrX:11444738:A:C 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP6 50_intron 26,.,. 1,.,. ARHGAP6/intron/;ARHGAP6/non_coding/ dominant HG002 HG002 chrX:11444740:A:ACCTTGTTACTT 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP6 50_intron 25,.,. 1,.,. ARHGAP6/intron/;ARHGAP6/non_coding/ recessive HG002 HG002 chrX:11444740:A:ACCTTGTTACTT 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP6 50_intron 25,.,. 1,.,. ARHGAP6/intron/;ARHGAP6/non_coding/ dominant HG002 HG002 chrX:11444743:A:G 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP6 50_intron 26,.,. 1,.,. ARHGAP6/intron/;ARHGAP6/non_coding/ recessive HG002 HG002 chrX:11444743:A:G 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP6 50_intron 26,.,. 1,.,. ARHGAP6/intron/;ARHGAP6/non_coding/ dominant HG002 HG002 chrX:11590920:A:G 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP6 50_intron 24,.,. 1,.,. ARHGAP6/intron/;ARHGAP6/non_coding/ dominant HG002 HG002 chrX:11639243:A:ATG 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP6 50_intron 19,.,. 1,.,. ARHGAP6/intron/;ARHGAP6/non_coding/ recessive HG002 HG002 chrX:11639243:A:ATG 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP6 50_intron 19,.,. 1,.,. ARHGAP6/intron/;ARHGAP6/non_coding/ dominant HG002 HG002 chrX:11639246:G:A 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP6 50_intron 21,.,. 1,.,. ARHGAP6/intron/;ARHGAP6/non_coding/ recessive HG002 HG002 chrX:11639246:G:A 2,.,. -1 -1 -1 -1 -1 -1 ARHGAP6 50_intron 21,.,. 1,.,. ARHGAP6/intron/;ARHGAP6/non_coding/ recessive HG002 HG002 chrX:12331820:A:G 2,.,. 0.00039604 1 8 0.00165017 1 3 FRMPD4 50_intron 20,.,. 1,.,. FRMPD4/intron/ Intellectual disability, X-linked 104 0.000 recessive HG002 HG002 chrX:12418350:C:T 2,.,. 0.000592468 4 48 -1 -1 -1 FRMPD4 50_intron 18,.,. 1,.,. FRMPD4/intron/;FRMPD4/non_coding/ Intellectual disability, X-linked 104 0.000 dominant HG002 HG002 chrX:12611478:GTAGT:G 2,.,. -1 -1 -1 -1 -1 -1 FRMPD4 50_intron 18,.,. 1,.,. FRMPD4/intron/;FRMPD4/non_coding/ Intellectual disability, X-linked 104 0.000 recessive HG002 HG002 chrX:12611478:GTAGT:G 2,.,. -1 -1 -1 -1 -1 -1 FRMPD4 50_intron 18,.,. 1,.,. FRMPD4/intron/;FRMPD4/non_coding/ Intellectual disability, X-linked 104 0.000 dominant HG002 HG002 chrX:12611483:A:C 2,.,. -1 -1 -1 -1 -1 -1 FRMPD4 50_intron 18,.,. 1,.,. FRMPD4/intron/;FRMPD4/non_coding/ Intellectual disability, X-linked 104 0.000 recessive HG002 HG002 chrX:12611483:A:C 2,.,. -1 -1 -1 -1 -1 -1 FRMPD4 50_intron 18,.,. 1,.,. FRMPD4/intron/;FRMPD4/non_coding/ Intellectual disability, X-linked 104 0.000 dominant HG002 HG002 chrX:12611484:T:C 2,.,. 3.83686e-05 0 1 -1 -1 -1 FRMPD4 50_intron 18,.,. 1,.,. FRMPD4/intron/;FRMPD4/non_coding/ Intellectual disability, X-linked 104 0.000 recessive HG002 HG002 chrX:12611484:T:C 2,.,. 3.83686e-05 0 1 -1 -1 -1 FRMPD4 50_intron 18,.,. 1,.,. FRMPD4/intron/;FRMPD4/non_coding/ Intellectual disability, X-linked 104 0.000 dominant HG002 HG002 chrX:12611485:C:A 2,.,. -1 -1 -1 -1 -1 -1 FRMPD4 50_intron 18,.,. 1,.,. FRMPD4/intron/;FRMPD4/non_coding/ Intellectual disability, X-linked 104 0.000 recessive HG002 HG002 chrX:12611485:C:A 2,.,. -1 -1 -1 -1 -1 -1 FRMPD4 50_intron 18,.,. 1,.,. FRMPD4/intron/;FRMPD4/non_coding/ Intellectual disability, X-linked 104 0.000 dominant HG002 HG002 chrX:12744302:T:G 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:12744302:T:G 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:14691328:C:T 2,.,. 0.000109888 2 11 0.00715072 2 13 GLRA2 50_intron 26,.,. 1,.,. GLRA2/intron/ Intellectual developmental disorder, X-linked, syndromic, Pilorge type 0.000 dominant HG002 HG002 chrX:15398665:G:GGTGTGTGTGTGT 2,.,. -1 -1 -1 -1 -1 -1 PIR 50_intron 18,.,. 1,.,. PIR/intron/;PIR/non_coding/ recessive HG002 HG002 chrX:15398665:G:GGTGTGTGTGTGT 2,.,. -1 -1 -1 -1 -1 -1 PIR 50_intron 18,.,. 1,.,. PIR/intron/;PIR/non_coding/ dominant HG002 HG002 chrX:16217024:G:C 2,.,. 1.79112e-05 0 2 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:16217024:G:C 2,.,. 1.79112e-05 0 2 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:16234635:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:16234635:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:16234637:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:16234637:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:16234638:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:16234638:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:16362355:G:A 2,.,. -1 -1 -1 0.00330033 0 6 20,.,. 1,.,. recessive HG002 HG002 chrX:17290885:CGTT:C 2,.,. 7.1914e-05 1 8 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:17646031:A:T 2,.,. 8.05953e-05 2 9 -1 -1 -1 NHS 50_intron 14,.,. 1,.,. NHS/intron/ Nance-Horan syndrome;Cataract 40 0.000 recessive HG002 HG002 chrX:17910131:A:G 2,.,. 8.94015e-05 3 10 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:18324912:G:A 2,.,. 8.07856e-05 3 9 0.00110011 1 2 SCML2 14_missense 18,.,. 1,.,. SCML2/missense/ENST00000251900 recessive HG002 HG002 chrX:18622451:C:G 2,.,. 5.35705e-05 1 6 -1 -1 -1 CDKL5 50_intron 15,.,. 1,.,. CDKL5/intron/ Angelman syndrome-like;Developmental and epileptic encephalopathy, 2 0.000 recessive HG002 HG002 chrX:18653259:C:T 2,.,. 7.16204e-05 2 8 -1 -1 -1 CDKL5 50_intron 18,.,. 1,.,. CDKL5/intron/;CDKL5/non_coding/ Angelman syndrome-like;Developmental and epileptic encephalopathy, 2 0.000 recessive HG002 HG002 chrX:18700240:GGTGTGTGTGTGT:G 2,.,. 0.000204567 3 11 -1 -1 -1 PPEF1 50_intron 21,.,. 1,.,. PPEF1/intron/;PPEF1/non_coding/ dominant HG002 HG002 chrX:18729151:C:CATACCAG 2,.,. -1 -1 -1 -1 -1 -1 PPEF1 50_intron 19,.,. 1,.,. PPEF1/intron/;PPEF1/non_coding/ recessive HG002 HG002 chrX:18729151:C:CATACCAG 2,.,. -1 -1 -1 -1 -1 -1 PPEF1 50_intron 19,.,. 1,.,. PPEF1/intron/;PPEF1/non_coding/ dominant HG002 HG002 chrX:18729152:C:G 2,.,. -1 -1 -1 -1 -1 -1 PPEF1 50_intron 19,.,. 1,.,. PPEF1/intron/;PPEF1/non_coding/ recessive HG002 HG002 chrX:18729152:C:G 2,.,. -1 -1 -1 -1 -1 -1 PPEF1 50_intron 19,.,. 1,.,. PPEF1/intron/;PPEF1/non_coding/ dominant HG002 HG002 chrX:18729154:C:A 2,.,. -1 -1 -1 -1 -1 -1 PPEF1 50_intron 19,.,. 1,.,. PPEF1/intron/;PPEF1/non_coding/ recessive HG002 HG002 chrX:18729154:C:A 2,.,. -1 -1 -1 -1 -1 -1 PPEF1 50_intron 19,.,. 1,.,. PPEF1/intron/;PPEF1/non_coding/ dominant HG002 HG002 chrX:18770391:C:T 2,.,. 1.79416e-05 0 2 -1 -1 -1 PPEF1 50_intron 24,.,. 1,.,. PPEF1/intron/;PPEF1/non_coding/ recessive HG002 HG002 chrX:18770391:C:T 2,.,. 1.79416e-05 0 2 -1 -1 -1 PPEF1 50_intron 24,.,. 1,.,. PPEF1/intron/;PPEF1/non_coding/ recessive HG002 HG002 chrX:18912287:A:G 2,.,. 8.03342e-05 2 9 -1 -1 -1 PHKA2 50_intron 18,.,. 1,.,. PHKA2/intron/ Glycogen storage disease IXa1 0.000 recessive HG002 HG002 chrX:19209484:G:A 2,.,. 7.14547e-05 2 8 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chrX:19259933:A:G 2,.,. 0.000107505 3 12 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chrX:19452106:A:G 2,.,. -1 -1 -1 -1 -1 -1 MAP3K15 50_intron 12,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ recessive HG002 HG002 chrX:19452106:A:G 2,.,. -1 -1 -1 -1 -1 -1 MAP3K15 50_intron 12,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ dominant HG002 HG002 chrX:19452111:A:G 2,.,. -1 -1 -1 0.00110011 1 2 MAP3K15 50_intron 12,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ recessive HG002 HG002 chrX:19452111:A:G 2,.,. -1 -1 -1 0.00110011 1 2 MAP3K15 50_intron 12,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ dominant HG002 HG002 chrX:19452116:A:G 2,.,. -1 -1 -1 -1 -1 -1 MAP3K15 50_intron 12,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ recessive HG002 HG002 chrX:19452116:A:G 2,.,. -1 -1 -1 -1 -1 -1 MAP3K15 50_intron 12,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ dominant HG002 HG002 chrX:19452121:A:G 2,.,. -1 -1 -1 -1 -1 -1 MAP3K15 50_intron 11,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ dominant HG002 HG002 chrX:19452126:A:G 2,.,. -1 -1 -1 -1 -1 -1 MAP3K15 50_intron 11,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ recessive HG002 HG002 chrX:19452126:A:G 2,.,. -1 -1 -1 -1 -1 -1 MAP3K15 50_intron 11,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ dominant HG002 HG002 chrX:19452131:A:G 2,.,. -1 -1 -1 -1 -1 -1 MAP3K15 50_intron 10,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ dominant HG002 HG002 chrX:19452136:A:G 2,.,. -1 -1 -1 -1 -1 -1 MAP3K15 50_intron 11,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ dominant HG002 HG002 chrX:19452141:A:G 2,.,. -1 -1 -1 -1 -1 -1 MAP3K15 50_intron 11,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ dominant HG002 HG002 chrX:19452146:A:G 2,.,. -1 -1 -1 0.00110011 2 2 MAP3K15 50_intron 9,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ dominant HG002 HG002 chrX:19452151:A:G 2,.,. -1 -1 -1 -1 -1 -1 MAP3K15 50_intron 10,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ dominant HG002 HG002 chrX:19452156:A:G 2,.,. -1 -1 -1 -1 -1 -1 MAP3K15 50_intron 10,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ dominant HG002 HG002 chrX:19452161:A:G 2,.,. -1 -1 -1 -1 -1 -1 MAP3K15 50_intron 10,.,. 1,.,. MAP3K15/non_coding/;MAP3K15/intron/ recessive HG002 HG002 chrX:19945586:GGGGGTCA:G 2,.,. 0.000292446 3 23 0.00440044 0 8 BCLAF3 50_intron 27,.,. 1,.,. BCLAF3/intron/ recessive HG002 HG002 chrX:19945695:T:C 2,.,. 0.000304236 0 25 0.00385039 0 7 BCLAF3 50_intron 29,.,. 1,.,. BCLAF3/intron/ dominant HG002 HG002 chrX:20506226:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:20506226:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:20552422:G:GAT 1,.,. 0.000199889 3 22 -1 -1 -1 24,.,. 0.291667,.,. recessive HG002 HG002 chrX:22486940:C:T 2,.,. 0.000528748 1 50 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:22529194:A:G 2,.,. 0.000161067 1 18 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chrX:23128988:GCCCTCCCAGCCCT:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:23128988:GCCCTCCCAGCCCT:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:23129003:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:23129003:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:23129004:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:23129004:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:23129006:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:23129006:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:23243941:T:G 2,.,. -1 -1 -1 0.00330033 1 6 20,.,. 1,.,. dominant HG002 HG002 chrX:23673767:A:T 2,.,. -1 -1 -1 -1 -1 -1 PRDX4 50_intron 26,.,. 1,.,. PRDX4/intron/;PRDX4/non_coding/ recessive HG002 HG002 chrX:23673767:A:T 2,.,. -1 -1 -1 -1 -1 -1 PRDX4 50_intron 26,.,. 1,.,. PRDX4/intron/;PRDX4/non_coding/ recessive HG002 HG002 chrX:23730128:CTT:C 2,.,. 0.000310424 2 25 0.00110011 0 2 ACOT9 50_intron 20,.,. 1,.,. ACOT9/intron/ dominant HG002 HG002 chrX:23753852:C:T 2,.,. 9.4097e-05 0 3 -1 -1 -1 ACOT9 50_intron 10,.,. 1,.,. ACOT9/intron/ recessive HG002 HG002 chrX:23753852:C:T 2,.,. 9.4097e-05 0 3 -1 -1 -1 ACOT9 50_intron 10,.,. 1,.,. ACOT9/intron/ recessive HG002 HG002 chrX:23796296:C:T 2,.,. 9.79982e-05 0 11 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:23961328:G:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chrX:23961328:G:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chrX:24205557:A:T 2,.,. 0.00015101 3 17 -1 -1 -1 ZFX 50_intron 26,.,. 1,.,. ZFX/intron/;ZFX/non_coding/ Intellectual developmental disorder, X-linked, syndromic 37 recessive HG002 HG002 chrX:24261934:A:C 2,.,. 0.000121273 2 13 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:24275303:T:C 2,.,. 0.000106922 4 12 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:24278077:G:C 2,.,. 0.000116829 2 13 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:24458312:G:A 2,.,. 0.000115998 2 13 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:24733871:G:C 2,.,. 8.06705e-05 0 9 -1 -1 -1 POLA1 50_intron 17,.,. 1,.,. POLA1/intron/;POLA1/non_coding/ X-linked intellectual disability, van Esch type;X-linked reticulate pigmentary disorder 0.000 recessive HG002 HG002 chrX:25115446:C:A 2,.,. 8.98561e-05 0 10 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:25426427:T:G 2,.,. 0.000151854 4 17 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chrX:25471506:T:TATATAC 2,.,. 0.00067725 1 25 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:25561016:G:T 2,.,. 0.00013317 3 15 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:25772081:G:A 2,.,. 0.000160498 4 18 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:25780483:C:T 2,.,. 0.000107256 1 12 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrX:26231780:C:T 2,.,. 9.79851e-05 0 11 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:26320219:A:T 2,.,. 0.000108942 0 11 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chrX:26624774:G:A 2,.,. 0.000164844 1 18 -1 -1 -1 VENTXP1 53_non_coding 25,.,. 1,.,. VENTXP1/non_coding/ recessive HG002 HG002 chrX:26873935:C:T 2,.,. 0.000169005 4 19 -1 -1 -1 VENTXP1 53_non_coding 22,.,. 1,.,. VENTXP1/non_coding/ dominant HG002 HG002 chrX:27041188:G:T 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.263158,.,. recessive HG002 HG002 chrX:27041188:G:T 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.263158,.,. recessive HG002 HG002 chrX:27091460:C:T 2,.,. 0.000161891 4 18 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:27115011:A:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:27115011:A:G 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chrX:27181199:A:ATG 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrX:27181199:A:ATG 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. dominant HG002 HG002 chrX:27337644:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:27337644:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:27361845:G:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:27361845:G:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chrX:27361849:C:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:27361849:C:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chrX:27387630:A:C 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chrX:27387630:A:C 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chrX:27729685:GGAGTTTCTTTTAAAA:G 2,.,. 0.000161104 4 18 -1 -1 -1 DCAF8L2 50_intron 20,.,. 1,.,. DCAF8L2/non_coding/;DCAF8L2/intron/ dominant HG002 HG002 chrX:27785584:C:CT 1,.,. 1.89527e-05 1 2 -1 -1 -1 24,.,. 0.583333,.,. recessive HG002 HG002 chrX:27785584:C:CT 1,.,. 1.89527e-05 1 2 -1 -1 -1 24,.,. 0.583333,.,. recessive HG002 HG002 chrX:27970262:A:G 2,.,. 0.000196536 2 22 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:28007079:C:T 2,.,. 0.000124493 2 14 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrX:29323699:T:G 2,.,. 0.0004095 3 24 -1 -1 -1 IL1RAPL1 50_intron 18,.,. 1,.,. IL1RAPL1/intron/ Intellectual disability, X-linked 21 0.000 dominant HG002 HG002 chrX:29458457:TTGAC:T 2,.,. 3.40472e-05 1 1 -1 -1 -1 IL1RAPL1 50_intron 27,.,. 1,.,. IL1RAPL1/intron/ Intellectual disability, X-linked 21 0.000 recessive HG002 HG002 chrX:29458457:TTGAC:T 2,.,. 3.40472e-05 1 1 -1 -1 -1 IL1RAPL1 50_intron 27,.,. 1,.,. IL1RAPL1/intron/ Intellectual disability, X-linked 21 0.000 dominant HG002 HG002 chrX:29458464:C:G 2,.,. -1 -1 -1 -1 -1 -1 IL1RAPL1 50_intron 27,.,. 1,.,. IL1RAPL1/intron/ Intellectual disability, X-linked 21 0.000 recessive HG002 HG002 chrX:29458464:C:G 2,.,. -1 -1 -1 -1 -1 -1 IL1RAPL1 50_intron 27,.,. 1,.,. IL1RAPL1/intron/ Intellectual disability, X-linked 21 0.000 recessive HG002 HG002 chrX:29488271:C:G 2,.,. 7.16551e-05 0 8 -1 -1 -1 IL1RAPL1 50_intron 21,.,. 1,.,. IL1RAPL1/intron/ Intellectual disability, X-linked 21 0.000 recessive HG002 HG002 chrX:31073685:T:C 2,.,. 8.92363e-05 4 10 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:31214059:C:CAATTCCTTGGCTGGGTTGG 2,.,. -1 -1 -1 -1 -1 -1 DMD 50_intron 17,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 recessive HG002 HG002 chrX:31214059:C:CAATTCCTTGGCTGGGTTGG 2,.,. -1 -1 -1 -1 -1 -1 DMD 50_intron 17,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 dominant HG002 HG002 chrX:32183573:T:TATATAA 2,.,. -1 -1 -1 -1 -1 -1 DMD 50_intron 15,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 recessive HG002 HG002 chrX:32183573:T:TATATAA 2,.,. -1 -1 -1 -1 -1 -1 DMD 50_intron 15,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 dominant HG002 HG002 chrX:32698633:G:A 2,.,. 2.68771e-05 1 3 -1 -1 -1 DMD 50_intron 19,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 recessive HG002 HG002 chrX:32698633:G:A 2,.,. 2.68771e-05 1 3 -1 -1 -1 DMD 50_intron 19,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 recessive HG002 HG002 chrX:32887056:G:A 2,.,. 9.84375e-05 1 11 -1 -1 -1 DMD 50_intron 26,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 dominant HG002 HG002 chrX:32970962:G:C 2,.,. -1 -1 -1 -1 -1 -1 DMD 50_intron 17,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 recessive HG002 HG002 chrX:32970962:G:C 2,.,. -1 -1 -1 -1 -1 -1 DMD 50_intron 17,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 dominant HG002 HG002 chrX:33005297:C:CACACACACGCAT 2,.,. -1 -1 -1 -1 -1 -1 DMD 50_intron 16,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 recessive HG002 HG002 chrX:33005297:C:CACACACACGCAT 2,.,. -1 -1 -1 -1 -1 -1 DMD 50_intron 16,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 dominant HG002 HG002 chrX:33008884:A:G 2,.,. 2.11019e-05 0 1 -1 -1 -1 DMD 50_intron 23,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 recessive HG002 HG002 chrX:33008884:A:G 2,.,. 2.11019e-05 0 1 -1 -1 -1 DMD 50_intron 23,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 dominant HG002 HG002 chrX:33009855:T:C 2,.,. 2.54732e-05 0 1 0.00220022 1 4 DMD 50_intron 23,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 recessive HG002 HG002 chrX:33009855:T:C 2,.,. 2.54732e-05 0 1 0.00220022 1 4 DMD 50_intron 23,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 dominant HG002 HG002 chrX:33197351:G:A 2,.,. 1.78426e-05 0 2 -1 -1 -1 DMD 50_intron 29,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 recessive HG002 HG002 chrX:33197351:G:A 2,.,. 1.78426e-05 0 2 -1 -1 -1 DMD 50_intron 29,.,. 1,.,. DMD/intron/;DMD/non_coding/ Qualitative or quantitative defects of dystrophin;Becker muscular dystrophy;Dilated cardiomyopathy 3B;Duchenne muscular dystrophy 0.000 recessive HG002 HG002 chrX:33622356:G:GTGTGTGTGTGTGTGTATATATATA 2,.,. 0.000155895 1 14 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:34057054:G:A 2,.,. 8.8964e-05 2 10 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:34066670:C:T 2,.,. 0.000125769 4 14 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chrX:34352200:G:C 2,.,. 0.000125187 4 14 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:35304880:T:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:35304880:T:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:35304881:G:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:35304881:G:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:35304882:C:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:35304882:C:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:35331519:T:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:35331519:T:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:35471426:C:T 2,.,. 0.000216517 4 24 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:35511608:T:G 2,.,. 1.78669e-05 0 2 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:35511608:T:G 2,.,. 1.78669e-05 0 2 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:36317869:TG:T 2,.,. 0.000187782 4 21 -1 -1 -1 CFAP47 50_intron 24,.,. 1,.,. CFAP47/intron/ Spermatogenic failure, X-linked, 3 0.000 dominant HG002 HG002 chrX:36387756:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.606061,.,. recessive HG002 HG002 chrX:36387756:T:A 1,.,. -1 -1 -1 -1 -1 -1 33,.,. 0.606061,.,. recessive HG002 HG002 chrX:36987125:G:C 2,.,. -1 -1 -1 0.00440044 1 8 22,.,. 1,.,. recessive HG002 HG002 chrX:37918485:A:C 2,.,. 8.91123e-05 2 10 -1 -1 -1 AF241726.2 50_intron 29,.,. 1,.,. AF241726.2/intron/ dominant HG002 HG002 chrX:39615491:CAAAAAAAAAA:C 2,.,. 0.000128999 0 3 -1 -1 -1 8,.,. 1,.,. dominant HG002 HG002 chrX:39852937:C:T 2,.,. 2.70448e-05 1 3 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:39852937:C:T 2,.,. 2.70448e-05 1 3 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:39963976:T:TGA 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:39963976:T:TGA 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:39963977:A:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:39963977:A:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:40523749:T:A 2,.,. 0.000124271 1 14 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:40962995:TATGTCATATGTCATA:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:40962995:TATGTCATATGTCATA:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:41140347:T:C 2,.,. 5.36107e-05 1 6 -1 -1 -1 USP9X 50_intron 20,.,. 1,.,. USP9X/intron/ Intellectual disability, X-linked 99, syndromic, female-restricted;Intellectual disability, X-linked 99 0.000 recessive HG002 HG002 chrX:41178353:G:A 2,.,. 0.000283141 2 31 0.00165017 0 3 USP9X 50_intron 25,.,. 1,.,. USP9X/intron/ Intellectual disability, X-linked 99, syndromic, female-restricted;Intellectual disability, X-linked 99 0.000 dominant HG002 HG002 chrX:41354344:C:G 2,.,. 5.71739e-05 1 4 -1 -1 -1 DDX3X 50_intron 11,.,. 1,.,. DDX3X/intron/ Intellectual disability, X-linked 102 0.000 recessive HG002 HG002 chrX:41354344:C:G 2,.,. 5.71739e-05 1 4 -1 -1 -1 DDX3X 50_intron 11,.,. 1,.,. DDX3X/intron/ Intellectual disability, X-linked 102 0.000 dominant HG002 HG002 chrX:41431836:T:TTTTTG 2,.,. -1 -1 -1 0.00110011 0 2 10,.,. 1,.,. recessive HG002 HG002 chrX:41431836:T:TTTTTG 2,.,. -1 -1 -1 0.00110011 0 2 10,.,. 1,.,. recessive HG002 HG002 chrX:41431848:T:G 2,.,. 0.000146534 3 14 -1 -1 -1 13,.,. 1,.,. dominant HG002 HG002 chrX:41611646:T:C 2,.,. -1 -1 -1 -1 -1 -1 CASK 50_intron 20,.,. 1,.,. CASK/intron/;CASK/non_coding/ FG syndrome 4;Syndromic X-linked intellectual disability Najm type;Intellectual developmental disorder, X-linked, with or without nystagmus;Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0.000 recessive HG002 HG002 chrX:41611646:T:C 2,.,. -1 -1 -1 -1 -1 -1 CASK 50_intron 20,.,. 1,.,. CASK/intron/;CASK/non_coding/ FG syndrome 4;Syndromic X-linked intellectual disability Najm type;Intellectual developmental disorder, X-linked, with or without nystagmus;Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0.000 recessive HG002 HG002 chrX:41775108:T:C 1,.,. -1 -1 -1 0.0165017 0 30 CASK 50_intron 20,.,. 0.35,.,. CASK/intron/;CASK/non_coding/ FG syndrome 4;Syndromic X-linked intellectual disability Najm type;Intellectual developmental disorder, X-linked, with or without nystagmus;Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0.000 recessive HG002 HG002 chrX:41775306:C:A 1,.,. 0.000601193 4 67 0.0192519 1 35 CASK 50_intron 21,.,. 0.380952,.,. CASK/intron/;CASK/non_coding/ FG syndrome 4;Syndromic X-linked intellectual disability Najm type;Intellectual developmental disorder, X-linked, with or without nystagmus;Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0.000 recessive HG002 HG002 chrX:41775436:A:G 1,.,. 0.000122566 1 13 0.0181518 1 33 CASK 50_intron 21,.,. 0.380952,.,. CASK/intron/;CASK/non_coding/ FG syndrome 4;Syndromic X-linked intellectual disability Najm type;Intellectual developmental disorder, X-linked, with or without nystagmus;Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0.000 recessive HG002 HG002 chrX:41775475:G:C 1,.,. -1 -1 -1 0.019802 2 36 CASK 50_intron 21,.,. 0.380952,.,. CASK/intron/;CASK/non_coding/ FG syndrome 4;Syndromic X-linked intellectual disability Najm type;Intellectual developmental disorder, X-linked, with or without nystagmus;Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0.000 recessive HG002 HG002 chrX:41775739:T:C 1,.,. -1 -1 -1 0.0192519 1 35 CASK 50_intron 20,.,. 0.4,.,. CASK/intron/;CASK/non_coding/ FG syndrome 4;Syndromic X-linked intellectual disability Najm type;Intellectual developmental disorder, X-linked, with or without nystagmus;Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0.000 recessive HG002 HG002 chrX:41775750:C:T 1,.,. -1 -1 -1 0.020352 1 37 CASK 50_intron 20,.,. 0.4,.,. CASK/intron/;CASK/non_coding/ FG syndrome 4;Syndromic X-linked intellectual disability Najm type;Intellectual developmental disorder, X-linked, with or without nystagmus;Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0.000 recessive HG002 HG002 chrX:41890242:G:GTA 2,.,. -1 -1 -1 0.00660066 0 12 CASK 50_intron 23,.,. 1,.,. CASK/intron/;CASK/non_coding/ FG syndrome 4;Syndromic X-linked intellectual disability Najm type;Intellectual developmental disorder, X-linked, with or without nystagmus;Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0.000 dominant HG002 HG002 chrX:42134694:T:A 2,.,. 2.68152e-05 0 3 -1 -1 -1 32,.,. 1,.,. recessive HG002 HG002 chrX:42134694:T:A 2,.,. 2.68152e-05 0 3 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chrX:42178753:G:C 2,.,. 2.67888e-05 0 3 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:42178753:G:C 2,.,. 2.67888e-05 0 3 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:42332943:C:A 2,.,. 2.70743e-05 0 3 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chrX:42332943:C:A 2,.,. 2.70743e-05 0 3 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chrX:42939143:C:T 2,.,. 8.8964e-05 4 10 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chrX:43013028:A:G 2,.,. 7.15564e-05 1 8 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:43533928:G:T 2,.,. 0.000101379 0 1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:43533928:G:T 2,.,. 0.000101379 0 1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:43654531:C:T 2,.,. 0.0022493 3 12 0.00110011 0 2 19,.,. 1,.,. dominant HG002 HG002 chrX:43667002:G:GGAA 2,.,. -1 -1 -1 -1 -1 -1 MAOA 50_intron 24,.,. 1,.,. MAOA/intron/;MAOA/non_coding/ Brunner syndrome 0.000 recessive HG002 HG002 chrX:43667002:G:GGAA 2,.,. -1 -1 -1 -1 -1 -1 MAOA 50_intron 24,.,. 1,.,. MAOA/intron/;MAOA/non_coding/ Brunner syndrome 0.000 recessive HG002 HG002 chrX:43667009:G:A 2,.,. 0.00012288 2 12 -1 -1 -1 MAOA 50_intron 27,.,. 1,.,. MAOA/intron/;MAOA/non_coding/ Brunner syndrome 0.000 dominant HG002 HG002 chrX:43815213:T:G 2,.,. 2.67714e-05 0 3 -1 -1 -1 MAOB 50_intron 20,.,. 1,.,. MAOB/intron/;MAOB/non_coding/ recessive HG002 HG002 chrX:43815213:T:G 2,.,. 2.67714e-05 0 3 -1 -1 -1 MAOB 50_intron 20,.,. 1,.,. MAOB/intron/;MAOB/non_coding/ recessive HG002 HG002 chrX:44252774:T:C 2,.,. 8.01896e-05 4 9 -1 -1 -1 EFHC2 50_intron 28,.,. 1,.,. EFHC2/intron/ dominant HG002 HG002 chrX:44439307:TAGGATCTGG:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:44439307:TAGGATCTGG:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chrX:44439317:C:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:44439317:C:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:44602081:A:ATATGTATATGTATACATACATGTGCGTATGTATATATGTATATGTATACATACATGTGCGTATGTATATGTATACATACATGTGCG 2,.,. -1 -1 -1 0.00880088 3 16 15,.,. 1,.,. recessive HG002 HG002 chrX:44824114:TTTTA:T 2,.,. 8.49897e-05 2 8 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:44824121:T:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:44824121:T:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:44824122:A:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:44824122:A:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:44826162:AAAATCTCACT:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:44826173:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:44826173:G:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:44826176:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:44826176:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:44826178:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:44826178:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:44826180:C:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:44826180:C:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:44826181:AG:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:45666893:AAGTGCTTATT:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:45666893:AAGTGCTTATT:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:45666905:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:45666905:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:45764446:A:C 2,.,. 0.000157928 3 15 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:47571212:GGTGTGT:G 2,.,. 0.000115086 2 6 -1 -1 -1 ARAF 50_intron 10,.,. 1,.,. ARAF/intron/;ARAF/non_coding/ recessive HG002 HG002 chrX:48281107:G:A 2,.,. -1 -1 -1 0.00330033 1 6 AC245047.6 53_non_coding 13,.,. 1,.,. AC245047.6/non_coding/ recessive HG002 HG002 chrX:48794829:A:G 2,.,. 0.000178105 3 20 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:49037249:A:T 2,.,. 1.78428e-05 0 2 -1 -1 -1 TFE3 50_intron 6,.,. 1,.,. TFE3/intron/;TFE3/non_coding/ Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies;Renal cell carcinoma, Xp11-associated 0.000 recessive HG002 HG002 chrX:49037249:A:T 2,.,. 1.78428e-05 0 2 -1 -1 -1 TFE3 50_intron 6,.,. 1,.,. TFE3/intron/;TFE3/non_coding/ Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies;Renal cell carcinoma, Xp11-associated 0.000 dominant HG002 HG002 chrX:49325614:C:CGGATATATGT 2,.,. -1 -1 -1 -1 -1 -1 GAGE12J 50_intron 12,.,. 1,.,. GAGE12J/intron/ dominant HG002 HG002 chrX:49325615:A:T 2,.,. -1 -1 -1 -1 -1 -1 GAGE12J 50_intron 13,.,. 1,.,. GAGE12J/intron/ recessive HG002 HG002 chrX:50226616:T:C 2,.,. 0.000235262 3 19 -1 -1 -1 CCNB3 50_intron 18,.,. 1,.,. CCNB3/non_coding/;CCNB3/intron/ recessive HG002 HG002 chrX:50278978:TG:T 2,.,. -1 -1 -1 0.00275027 0 5 CCNB3 50_intron 8,.,. 1,.,. CCNB3/non_coding/;CCNB3/intron/ dominant HG002 HG002 chrX:50691515:T:TTTAGCAGGTTAAAAAC 2,.,. -1 -1 -1 -1 -1 -1 SHROOM4 50_intron 26,.,. 1,.,. SHROOM4/intron/;SHROOM4/non_coding/ 0.000 recessive HG002 HG002 chrX:50691515:T:TTTAGCAGGTTAAAAAC 2,.,. -1 -1 -1 -1 -1 -1 SHROOM4 50_intron 26,.,. 1,.,. SHROOM4/intron/;SHROOM4/non_coding/ 0.000 dominant HG002 HG002 chrX:50691518:G:C 2,.,. -1 -1 -1 -1 -1 -1 SHROOM4 50_intron 27,.,. 1,.,. SHROOM4/intron/;SHROOM4/non_coding/ 0.000 recessive HG002 HG002 chrX:50691518:G:C 2,.,. -1 -1 -1 -1 -1 -1 SHROOM4 50_intron 27,.,. 1,.,. SHROOM4/intron/;SHROOM4/non_coding/ 0.000 dominant HG002 HG002 chrX:50691519:T:A 2,.,. -1 -1 -1 -1 -1 -1 SHROOM4 50_intron 27,.,. 1,.,. SHROOM4/intron/;SHROOM4/non_coding/ 0.000 recessive HG002 HG002 chrX:50691519:T:A 2,.,. -1 -1 -1 -1 -1 -1 SHROOM4 50_intron 27,.,. 1,.,. SHROOM4/intron/;SHROOM4/non_coding/ 0.000 dominant HG002 HG002 chrX:51061342:T:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:51061342:T:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:51110745:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:51110745:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:51687804:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrX:51687804:C:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chrX:52183461:T:TAACAGGA 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:52183461:T:TAACAGGA 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:52183466:TA:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:52183466:TA:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:52476283:A:G 2,.,. -1 -1 -1 0.00110011 1 2 17,.,. 1,.,. recessive HG002 HG002 chrX:52476283:A:G 2,.,. -1 -1 -1 0.00110011 1 2 17,.,. 1,.,. dominant HG002 HG002 chrX:52733010:G:A 2,.,. -1 -1 -1 0.00220022 2 4 6,.,. 1,.,. dominant HG002 HG002 chrX:52963265:T:A 2,.,. -1 -1 -1 -1 -1 -1 FAM156A 50_intron 7,.,. 1,.,. FAM156A/intron/;FAM156A/non_coding/ recessive HG002 HG002 chrX:52963265:T:A 2,.,. -1 -1 -1 -1 -1 -1 FAM156A 50_intron 7,.,. 1,.,. FAM156A/intron/;FAM156A/non_coding/ dominant HG002 HG002 chrX:53025919:T:C 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. dominant HG002 HG002 chrX:53026087:A:T 2,.,. -1 -1 -1 0.00220022 2 4 14,.,. 1,.,. recessive HG002 HG002 chrX:53026087:A:T 2,.,. -1 -1 -1 0.00220022 2 4 14,.,. 1,.,. dominant HG002 HG002 chrX:53281567:T:G 2,.,. -1 -1 -1 0.00110011 0 2 IQSEC2 35_5_prime_utr 15,.,. 1,.,. IQSEC2/5_prime_utr/ENST00000675731;IQSEC2/5_prime_utr/ENST00000375365;IQSEC2/5_prime_utr/ENST00000638630;IQSEC2/5_prime_utr/ENST00000639161;IQSEC2/5_prime_utr/ENST00000485377;IQSEC2/5_prime_utr/ENST00000638583 Intellectual disability, X-linked 1 0.000 recessive HG002 HG002 chrX:53281567:T:G 2,.,. -1 -1 -1 0.00110011 0 2 IQSEC2 35_5_prime_utr 15,.,. 1,.,. IQSEC2/5_prime_utr/ENST00000675731;IQSEC2/5_prime_utr/ENST00000375365;IQSEC2/5_prime_utr/ENST00000638630;IQSEC2/5_prime_utr/ENST00000639161;IQSEC2/5_prime_utr/ENST00000485377;IQSEC2/5_prime_utr/ENST00000638583 Intellectual disability, X-linked 1 0.000 dominant HG002 HG002 chrX:53281568:C:A 2,.,. -1 -1 -1 0.00110011 0 2 IQSEC2 35_5_prime_utr 15,.,. 1,.,. IQSEC2/5_prime_utr/ENST00000675731;IQSEC2/5_prime_utr/ENST00000375365;IQSEC2/5_prime_utr/ENST00000638630;IQSEC2/5_prime_utr/ENST00000639161;IQSEC2/5_prime_utr/ENST00000485377;IQSEC2/5_prime_utr/ENST00000638583 Intellectual disability, X-linked 1 0.000 recessive HG002 HG002 chrX:53281568:C:A 2,.,. -1 -1 -1 0.00110011 0 2 IQSEC2 35_5_prime_utr 15,.,. 1,.,. IQSEC2/5_prime_utr/ENST00000675731;IQSEC2/5_prime_utr/ENST00000375365;IQSEC2/5_prime_utr/ENST00000638630;IQSEC2/5_prime_utr/ENST00000639161;IQSEC2/5_prime_utr/ENST00000485377;IQSEC2/5_prime_utr/ENST00000638583 Intellectual disability, X-linked 1 0.000 dominant HG002 HG002 chrX:53281569:T:G 2,.,. -1 -1 -1 0.00110011 0 2 IQSEC2 35_5_prime_utr 15,.,. 1,.,. IQSEC2/5_prime_utr/ENST00000675731;IQSEC2/5_prime_utr/ENST00000375365;IQSEC2/5_prime_utr/ENST00000638630;IQSEC2/5_prime_utr/ENST00000639161;IQSEC2/5_prime_utr/ENST00000485377;IQSEC2/5_prime_utr/ENST00000638583 Intellectual disability, X-linked 1 0.000 recessive HG002 HG002 chrX:53281569:T:G 2,.,. -1 -1 -1 0.00110011 0 2 IQSEC2 35_5_prime_utr 15,.,. 1,.,. IQSEC2/5_prime_utr/ENST00000675731;IQSEC2/5_prime_utr/ENST00000375365;IQSEC2/5_prime_utr/ENST00000638630;IQSEC2/5_prime_utr/ENST00000639161;IQSEC2/5_prime_utr/ENST00000485377;IQSEC2/5_prime_utr/ENST00000638583 Intellectual disability, X-linked 1 0.000 recessive HG002 HG002 chrX:53281570:C:A 2,.,. 6.2272e-05 2 7 0.00110011 0 2 IQSEC2 35_5_prime_utr 15,.,. 1,.,. IQSEC2/5_prime_utr/ENST00000675731;IQSEC2/5_prime_utr/ENST00000375365;IQSEC2/5_prime_utr/ENST00000638630;IQSEC2/5_prime_utr/ENST00000639161;IQSEC2/5_prime_utr/ENST00000485377;IQSEC2/5_prime_utr/ENST00000638583 Intellectual disability, X-linked 1 0.000 dominant HG002 HG002 chrX:53680924:GTTTATTTC:G 2,.,. -1 -1 -1 -1 -1 -1 HUWE1 50_intron 17,.,. 1,.,. HUWE1/intron/;HUWE1/non_coding/ Intellectual disability, X-linked syndromic, Turner type 0.000 recessive HG002 HG002 chrX:53680924:GTTTATTTC:G 2,.,. -1 -1 -1 -1 -1 -1 HUWE1 50_intron 17,.,. 1,.,. HUWE1/intron/;HUWE1/non_coding/ Intellectual disability, X-linked syndromic, Turner type 0.000 dominant HG002 HG002 chrX:53680933:G:A 2,.,. -1 -1 -1 -1 -1 -1 HUWE1 50_intron 17,.,. 1,.,. HUWE1/intron/;HUWE1/non_coding/ Intellectual disability, X-linked syndromic, Turner type 0.000 recessive HG002 HG002 chrX:53680933:G:A 2,.,. -1 -1 -1 -1 -1 -1 HUWE1 50_intron 17,.,. 1,.,. HUWE1/intron/;HUWE1/non_coding/ Intellectual disability, X-linked syndromic, Turner type 0.000 dominant HG002 HG002 chrX:53680934:A:C 2,.,. -1 -1 -1 -1 -1 -1 HUWE1 50_intron 17,.,. 1,.,. HUWE1/intron/;HUWE1/non_coding/ Intellectual disability, X-linked syndromic, Turner type 0.000 recessive HG002 HG002 chrX:53680934:A:C 2,.,. -1 -1 -1 -1 -1 -1 HUWE1 50_intron 17,.,. 1,.,. HUWE1/intron/;HUWE1/non_coding/ Intellectual disability, X-linked syndromic, Turner type 0.000 recessive HG002 HG002 chrX:53772179:C:T 2,.,. 0.00148062 2 76 0.00275027 2 5 20,.,. 1,.,. recessive HG002 HG002 chrX:53913066:C:CAGG 2,.,. 0.000198834 4 22 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:54226411:AG:A 2,.,. 0.000230048 3 23 -1 -1 -1 WNK3 50_intron 20,.,. 1,.,. WNK3/intron/ Prieto syndrome dominant HG002 HG002 chrX:54711609:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:54711609:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:54769224:C:G 2,.,. -1 -1 -1 0.00440044 3 8 ITIH6 50_intron 18,.,. 1,.,. ITIH6/intron/ recessive HG002 HG002 chrX:54851470:CACACACACACACACACACACACACACAG:C 2,.,. 0.000660181 2 19 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:54915410:T:TGTTATATATATA 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:54915410:T:TGTTATATATATA 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:55108461:C:CTAAAGAGCCAGT 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chrX:55108461:C:CTAAAGAGCCAGT 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chrX:55108462:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chrX:55108462:G:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chrX:55385532:T:C 2,.,. 0.000197861 2 22 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:55829724:A:AACAG 2,.,. 0.000223061 2 25 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:55992418:C:T 2,.,. 0.000134255 1 15 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chrX:56093994:T:C 2,.,. 0.000250701 2 27 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chrX:56119605:T:A 2,.,. 0.000209002 2 23 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:56215398:G:A 2,.,. 0.000215438 2 24 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:56236595:A:AC 2,.,. 0.000215421 2 24 -1 -1 -1 KLF8 50_intron 20,.,. 1,.,. KLF8/intron/;KLF8/non_coding/ recessive HG002 HG002 chrX:56275982:A:C 2,.,. 0.000214485 2 24 -1 -1 -1 KLF8 50_intron 18,.,. 1,.,. KLF8/intron/;KLF8/non_coding/ recessive HG002 HG002 chrX:56320192:C:A 2,.,. 0.000213548 1 24 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chrX:56350424:G:A 2,.,. 0.000125826 1 14 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:56454862:A:T 2,.,. 0.000234207 2 26 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:56525988:A:G 2,.,. 0.000215486 2 24 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:56655451:A:G 2,.,. 0.000214523 1 24 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chrX:56766228:A:G 1,.,. 8.96395e-06 1 1 -1 -1 -1 NBDY 50_intron 12,.,. 0.333333,.,. NBDY/intron/ recessive HG002 HG002 chrX:56766228:A:G 1,.,. 8.96395e-06 1 1 -1 -1 -1 NBDY 50_intron 12,.,. 0.333333,.,. NBDY/intron/ recessive HG002 HG002 chrX:56821167:C:T 2,.,. 0.000135263 1 15 -1 -1 -1 SPIN3 50_intron 19,.,. 1,.,. SPIN3/intron/ recessive HG002 HG002 chrX:56930858:G:A 2,.,. 0.000272124 0 19 -1 -1 -1 SPIN3 50_intron 22,.,. 1,.,. SPIN3/intron/ recessive HG002 HG002 chrX:56964842:T:C 2,.,. 0.00022456 2 25 -1 -1 -1 SPIN3 50_intron 22,.,. 1,.,. SPIN3/intron/ recessive HG002 HG002 chrX:56995236:C:T 2,.,. 0.000222783 2 25 -1 -1 -1 SPIN3 20_splice_region 30,.,. 1,.,. SPIN3/5_prime_utr/ENST00000638289;SPIN3/5_prime_utr&NMD_transcript/ENST00000640507;SPIN3/5_prime_utr/ENST00000638257;SPIN3/5_prime_utr&NMD_transcript/ENST00000638873;SPIN3/5_prime_utr&NMD_transcript/ENST00000640131;SPIN3/5_prime_utr&NMD_transcript/ENST00000640463;SPIN3/5_prime_utr&NMD_transcript/ENST00000639888;SPIN3/5_prime_utr&NMD_transcript/ENST00000639418;SPIN3/5_prime_utr&NMD_transcript/ENST00000639000;SPIN3/5_prime_utr/ENST00000639583;SPIN3/5_prime_utr&NMD_transcript/ENST00000638819;SPIN3/5_prime_utr&NMD_transcript/ENST00000640101;SPIN3/5_prime_utr&NMD_transcript/ENST00000640421;SPIN3/5_prime_utr&NMD_transcript/ENST00000640577;SPIN3/5_prime_utr&NMD_transcript/ENST00000640039;SPIN3/5_prime_utr/ENST00000374919;SPIN3/5_prime_utr&NMD_transcript/ENST00000640728;SPIN3/5_prime_utr&NMD_transcript/ENST00000639794;SPIN3/5_prime_utr&NMD_transcript/ENST00000638664;SPIN3/5_prime_utr&NMD_transcript/ENST00000475785;SPIN3/5_prime_utr&NMD_transcript/ENST00000640717;SPIN3/5_prime_utr/ENST00000638619;SPIN3/5_prime_utr/ENST00000640768;SPIN3/5_prime_utr&NMD_transcript/ENST00000639605;SPIN3/5_prime_utr&NMD_transcript/ENST00000638845;SPIN3/splice_region/ENST00000638386;SPIN3/splice_region&NMD_transcript/ENST00000640511;SPIN3/splice_region/ENST00000639525;SPIN3/splice_region&NMD_transcript/ENST00000639956;SPIN3/splice_region&NMD_transcript/ENST00000639482;SPIN3/splice_region&NMD_transcript/ENST00000478405;SPIN3/splice_region&NMD_transcript/ENST00000638481 recessive HG002 HG002 chrX:57052136:C:T 2,.,. 0.000214987 0 20 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:57165317:C:G 2,.,. 0.000215123 2 24 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chrX:57196220:AC:A 2,.,. 0.000215229 2 24 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chrX:57272173:G:A 2,.,. 0.000217595 1 23 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:57277482:A:T 2,.,. 0.000223129 2 25 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chrX:57353379:A:G 2,.,. 0.000230258 2 25 -1 -1 -1 FAAH2 50_intron 22,.,. 1,.,. FAAH2/intron/ recessive HG002 HG002 chrX:57404565:C:T 2,.,. 0.000197338 2 22 -1 -1 -1 FAAH2 50_intron 14,.,. 1,.,. FAAH2/intron/ recessive HG002 HG002 chrX:57565629:C:T 2,.,. 0.000133592 1 15 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:57780642:T:C 2,.,. 0.000125052 1 14 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:57806969:C:T 2,.,. 0.000259901 3 29 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:57823136:C:A 2,.,. 0.000206261 2 23 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrX:57863678:A:G 2,.,. 0.000198705 1 22 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:58397600:G:A 2,.,. 0.000224792 2 25 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:58416560:T:A 2,.,. 0.000209967 1 23 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:58485784:T:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chrX:58485784:T:C 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. dominant HG002 HG002 chrX:58485785:T:TTGTGA 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chrX:58508152:C:A 1,.,. -1 -1 -1 0.00330033 2 6 21,.,. 0.285714,.,. recessive HG002 HG002 chrX:58666679:C:T 2,.,. -1 -1 -1 0.0060506 1 11 8,.,. 1,.,. dominant HG002 HG002 chrX:58675426:AGAT:A 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. dominant HG002 HG002 chrX:58675430:G:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chrX:58675430:G:T 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. dominant HG002 HG002 chrX:59133056:AGAT:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:59133056:AGAT:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:59133060:G:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:59133060:G:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:59339882:A:G 2,.,. -1 -1 -1 0.00715072 4 13 6,.,. 1,.,. dominant HG002 HG002 chrX:59340409:T:G 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. dominant HG002 HG002 chrX:59340639:G:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chrX:59340639:G:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chrX:59340683:A:G 2,.,. -1 -1 -1 0.00275027 0 5 7,.,. 1,.,. dominant HG002 HG002 chrX:59341177:T:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chrX:59341177:T:C 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. dominant HG002 HG002 chrX:59341485:G:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chrX:59341485:G:A 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. dominant HG002 HG002 chrX:59348315:C:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrX:59348315:C:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrX:59467915:G:C 2,.,. -1 -1 -1 0.0154015 3 28 14,.,. 1,.,. recessive HG002 HG002 chrX:59468970:A:C 2,.,. -1 -1 -1 0.0170517 4 31 11,.,. 1,.,. dominant HG002 HG002 chrX:59469283:GC:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chrX:59469283:GC:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. dominant HG002 HG002 chrX:59469340:A:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chrX:59469340:A:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. dominant HG002 HG002 chrX:59469422:A:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chrX:59469422:A:G 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chrX:59469495:C:T 2,.,. -1 -1 -1 0.0121012 4 22 11,.,. 1,.,. recessive HG002 HG002 chrX:59469657:A:C 2,.,. -1 -1 -1 0.00385039 3 7 10,.,. 1,.,. dominant HG002 HG002 chrX:59469720:C:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chrX:59469720:C:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. dominant HG002 HG002 chrX:59469882:A:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chrX:59469882:A:G 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. dominant HG002 HG002 chrX:59470087:A:G 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. dominant HG002 HG002 chrX:59470121:G:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. recessive HG002 HG002 chrX:59470121:G:C 2,.,. -1 -1 -1 -1 -1 -1 9,.,. 1,.,. dominant HG002 HG002 chrX:59470818:G:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. dominant HG002 HG002 chrX:59471027:A:C 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. dominant HG002 HG002 chrX:59471397:A:G 2,.,. -1 -1 -1 0.00110011 0 2 7,.,. 1,.,. dominant HG002 HG002 chrX:59471479:A:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. dominant HG002 HG002 chrX:59937498:C:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrX:59937498:C:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. dominant HG002 HG002 chrX:59990352:ATC:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:59990352:ATC:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:59990356:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:59990356:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:60376070:T:C 2,.,. -1 -1 -1 0.010451 3 19 6,.,. 1,.,. dominant HG002 HG002 chrX:60376302:G:A 2,.,. -1 -1 -1 0.00220022 2 4 6,.,. 1,.,. recessive HG002 HG002 chrX:60376302:G:A 2,.,. -1 -1 -1 0.00220022 2 4 6,.,. 1,.,. dominant HG002 HG002 chrX:60376378:G:A 2,.,. -1 -1 -1 0.00220022 1 4 6,.,. 1,.,. dominant HG002 HG002 chrX:60383256:A:G 2,.,. -1 -1 -1 0.00165017 0 3 17,.,. 1,.,. dominant HG002 HG002 chrX:60383421:AGAT:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:60383421:AGAT:A 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chrX:60383425:G:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:60383425:G:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chrX:60520031:AGAT:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:60520031:AGAT:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chrX:60520035:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:60520035:G:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chrX:60656619:G:A 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. dominant HG002 HG002 chrX:61246915:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:61246915:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:61398965:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chrX:61398965:C:T 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chrX:61497599:G:T 2,.,. -1 -1 -1 0.0280528 4 51 8,.,. 1,.,. dominant HG002 HG002 chrX:62358423:AGAT:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chrX:62358423:AGAT:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. dominant HG002 HG002 chrX:62358427:G:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chrX:62358427:G:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. dominant HG002 HG002 chrX:62384157:A:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. recessive HG002 HG002 chrX:62384157:A:G 2,.,. -1 -1 -1 -1 -1 -1 6,.,. 1,.,. dominant HG002 HG002 chrX:62384217:G:A 2,.,. -1 -1 -1 0.00110011 2 2 7,.,. 1,.,. recessive HG002 HG002 chrX:62384217:G:A 2,.,. -1 -1 -1 0.00110011 2 2 7,.,. 1,.,. dominant HG002 HG002 chrX:62384242:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chrX:62384242:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chrX:62678161:G:A 2,.,. 0.00022028 2 24 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:62740890:T:TA 2,.,. 0.000207155 3 23 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:62822715:G:T 2,.,. 0.000207144 1 23 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:62839564:C:T 2,.,. 0.000187987 1 21 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:62887932:G:T 2,.,. 0.000206326 2 23 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:62948256:C:G 2,.,. 0.000205664 2 23 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:62954391:T:C 2,.,. 0.000214917 2 24 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:62955427:G:C 2,.,. 0.00022392 2 24 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrX:62978443:T:G 2,.,. 0.000216888 2 24 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:63115282:A:G 2,.,. 0.000206193 2 23 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:63835714:G:C 2,.,. 0.000116433 1 13 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrX:63946402:G:A 2,.,. 0.000134271 2 15 -1 -1 -1 33,.,. 1,.,. recessive HG002 HG002 chrX:64063263:C:T 2,.,. 0.000205176 2 23 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chrX:64139745:A:T 2,.,. 0.000223692 3 25 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chrX:64358122:C:G 2,.,. 8.94454e-06 0 1 -1 -1 -1 MTMR8 50_intron 23,.,. 1,.,. MTMR8/intron/ recessive HG002 HG002 chrX:64358122:C:G 2,.,. 8.94454e-06 0 1 -1 -1 -1 MTMR8 50_intron 23,.,. 1,.,. MTMR8/intron/ recessive HG002 HG002 chrX:64586261:C:T 2,.,. 0.000241741 2 26 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:64954364:A:G 2,.,. 0.000276556 2 21 0.00110011 0 2 ZC4H2 50_intron 20,.,. 1,.,. ZC4H2/intron/;ZC4H2/non_coding/ Wieacker-Wolff syndrome, female-restricted;Wieacker-Wolff syndrome 0.000 dominant HG002 HG002 chrX:64960977:G:A 2,.,. -1 -1 -1 -1 -1 -1 ZC4H2 50_intron 13,.,. 1,.,. ZC4H2/intron/;ZC4H2/non_coding/ Wieacker-Wolff syndrome, female-restricted;Wieacker-Wolff syndrome 0.000 recessive HG002 HG002 chrX:64960977:G:A 2,.,. -1 -1 -1 -1 -1 -1 ZC4H2 50_intron 13,.,. 1,.,. ZC4H2/intron/;ZC4H2/non_coding/ Wieacker-Wolff syndrome, female-restricted;Wieacker-Wolff syndrome 0.000 recessive HG002 HG002 chrX:65202050:ATATAT:A 2,.,. 0.000381142 3 33 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chrX:65804392:G:A 2,.,. 0.000214742 2 24 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrX:65826665:G:A 2,.,. 0.000206543 1 23 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chrX:65841904:A:G 2,.,. 0.000213565 2 24 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:65848334:C:T 2,.,. 0.000204929 2 23 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:66037289:T:TATATATTATATAATAATATAATATATA 2,.,. -1 -1 -1 -1 -1 -1 VSIG4 50_intron 17,.,. 1,.,. VSIG4/intron/ recessive HG002 HG002 chrX:66037289:T:TATATATTATATAATAATATAATATATA 2,.,. -1 -1 -1 -1 -1 -1 VSIG4 50_intron 17,.,. 1,.,. VSIG4/intron/ dominant HG002 HG002 chrX:66088303:T:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:66088303:T:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:66088337:TGGAATACTGTG:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:66088337:TGGAATACTGTG:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:66375197:G:A 2,.,. 8.96363e-06 0 1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:66375197:G:A 2,.,. 8.96363e-06 0 1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:66408390:T:A 2,.,. 0.000253851 3 28 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chrX:66589019:TGGCATGGCA:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chrX:66589019:TGGCATGGCA:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chrX:66589032:TAAACTAAACTAA:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chrX:66589032:TAAACTAAACTAA:T 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chrX:66711918:A:C 2,.,. 0.000242046 3 27 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:66742669:G:T 2,.,. 0.000250856 3 28 -1 -1 -1 13,.,. 1,.,. dominant HG002 HG002 chrX:67059598:C:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:67059598:C:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:67278084:G:A 2,.,. 0.000244616 3 27 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:67801500:T:A 2,.,. 0.000277992 2 31 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrX:67919617:C:A 2,.,. 0.000255738 3 28 0.00110011 1 2 13,.,. 1,.,. recessive HG002 HG002 chrX:68096691:A:G 2,.,. 0.000259587 4 29 -1 -1 -1 OPHN1 50_intron 21,.,. 1,.,. OPHN1/intron/;OPHN1/non_coding/ X-linked intellectual disability-cerebellar hypoplasia syndrome 0.000 dominant HG002 HG002 chrX:68325748:A:C 2,.,. -1 -1 -1 -1 -1 -1 OPHN1 50_intron 6,.,. 1,.,. OPHN1/intron/;OPHN1/non_coding/ X-linked intellectual disability-cerebellar hypoplasia syndrome 0.000 recessive HG002 HG002 chrX:68325748:A:C 2,.,. -1 -1 -1 -1 -1 -1 OPHN1 50_intron 6,.,. 1,.,. OPHN1/intron/;OPHN1/non_coding/ X-linked intellectual disability-cerebellar hypoplasia syndrome 0.000 dominant HG002 HG002 chrX:68325760:G:C 2,.,. -1 -1 -1 -1 -1 -1 OPHN1 50_intron 7,.,. 1,.,. OPHN1/intron/;OPHN1/non_coding/ X-linked intellectual disability-cerebellar hypoplasia syndrome 0.000 dominant HG002 HG002 chrX:68325764:G:C 2,.,. -1 -1 -1 -1 -1 -1 OPHN1 50_intron 7,.,. 1,.,. OPHN1/intron/;OPHN1/non_coding/ X-linked intellectual disability-cerebellar hypoplasia syndrome 0.000 dominant HG002 HG002 chrX:68325767:G:C 2,.,. -1 -1 -1 -1 -1 -1 OPHN1 50_intron 7,.,. 1,.,. OPHN1/intron/;OPHN1/non_coding/ X-linked intellectual disability-cerebellar hypoplasia syndrome 0.000 dominant HG002 HG002 chrX:68325771:T:C 2,.,. -1 -1 -1 -1 -1 -1 OPHN1 50_intron 7,.,. 1,.,. OPHN1/intron/;OPHN1/non_coding/ X-linked intellectual disability-cerebellar hypoplasia syndrome 0.000 dominant HG002 HG002 chrX:68325773:T:C 2,.,. -1 -1 -1 -1 -1 -1 OPHN1 50_intron 7,.,. 1,.,. OPHN1/intron/;OPHN1/non_coding/ X-linked intellectual disability-cerebellar hypoplasia syndrome 0.000 dominant HG002 HG002 chrX:68325777:G:C 2,.,. -1 -1 -1 -1 -1 -1 OPHN1 50_intron 7,.,. 1,.,. OPHN1/intron/;OPHN1/non_coding/ X-linked intellectual disability-cerebellar hypoplasia syndrome 0.000 dominant HG002 HG002 chrX:68325779:G:C 2,.,. -1 -1 -1 -1 -1 -1 OPHN1 50_intron 7,.,. 1,.,. OPHN1/intron/;OPHN1/non_coding/ X-linked intellectual disability-cerebellar hypoplasia syndrome 0.000 dominant HG002 HG002 chrX:68325783:G:C 2,.,. -1 -1 -1 -1 -1 -1 OPHN1 50_intron 6,.,. 1,.,. OPHN1/intron/;OPHN1/non_coding/ X-linked intellectual disability-cerebellar hypoplasia syndrome 0.000 dominant HG002 HG002 chrX:68325786:A:C 2,.,. -1 -1 -1 -1 -1 -1 OPHN1 50_intron 7,.,. 1,.,. OPHN1/intron/;OPHN1/non_coding/ X-linked intellectual disability-cerebellar hypoplasia syndrome 0.000 dominant HG002 HG002 chrX:68325790:T:C 2,.,. -1 -1 -1 -1 -1 -1 OPHN1 50_intron 7,.,. 1,.,. OPHN1/intron/;OPHN1/non_coding/ X-linked intellectual disability-cerebellar hypoplasia syndrome 0.000 dominant HG002 HG002 chrX:68325798:T:C 2,.,. -1 -1 -1 -1 -1 -1 OPHN1 50_intron 7,.,. 1,.,. OPHN1/intron/;OPHN1/non_coding/ X-linked intellectual disability-cerebellar hypoplasia syndrome 0.000 recessive HG002 HG002 chrX:68439064:C:A 2,.,. 0.000259847 4 29 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrX:68722976:G:A 2,.,. 0.000160058 3 18 -1 -1 -1 STARD8 50_intron 16,.,. 1,.,. STARD8/intron/ recessive HG002 HG002 chrX:69119835:A:AG 2,.,. 0.000215626 3 24 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:69220851:A:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chrX:69220851:A:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chrX:69486918:G:GT 2,.,. 0.000195305 2 21 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chrX:69487391:CCAAAAATGG:C 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chrX:69487403:A:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:69487403:A:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:71419653:T:C 2,.,. 0.000170811 4 19 -1 -1 -1 TAF1 50_intron 24,.,. 1,.,. TAF1/intron/ Intellectual disability, X-linked, syndromic 33;X-linked dystonia-parkinsonism 0.000 dominant HG002 HG002 chrX:71522121:G:A 1,.,. -1 -1 -1 -1 -1 -1 TAF1 50_intron 9,.,. 0.444444,.,. TAF1/intron/;TAF1/non_coding/ Intellectual disability, X-linked, syndromic 33;X-linked dystonia-parkinsonism 0.000 dominant HG002 HG002 chrX:71522123:C:G 1,.,. -1 -1 -1 -1 -1 -1 TAF1 50_intron 9,.,. 0.444444,.,. TAF1/intron/;TAF1/non_coding/ Intellectual disability, X-linked, syndromic 33;X-linked dystonia-parkinsonism 0.000 dominant HG002 HG002 chrX:71522124:T:A 1,.,. -1 -1 -1 -1 -1 -1 TAF1 50_intron 9,.,. 0.444444,.,. TAF1/intron/;TAF1/non_coding/ Intellectual disability, X-linked, syndromic 33;X-linked dystonia-parkinsonism 0.000 dominant HG002 HG002 chrX:71522131:T:G 1,.,. -1 -1 -1 -1 -1 -1 TAF1 50_intron 9,.,. 0.444444,.,. TAF1/intron/;TAF1/non_coding/ Intellectual disability, X-linked, syndromic 33;X-linked dystonia-parkinsonism 0.000 dominant HG002 HG002 chrX:71522134:G:C 1,.,. -1 -1 -1 -1 -1 -1 TAF1 50_intron 9,.,. 0.444444,.,. TAF1/intron/;TAF1/non_coding/ Intellectual disability, X-linked, syndromic 33;X-linked dystonia-parkinsonism 0.000 recessive HG002 HG002 chrX:72171611:CATATATATATATATAT:C 2,.,. -1 -1 -1 0.00385039 4 7 16,.,. 1,.,. dominant HG002 HG002 chrX:72827279:C:CTTGTGCCAGT 2,.,. -1 -1 -1 -1 -1 -1 DMRTC1B 50_intron 22,.,. 1,.,. DMRTC1B/intron/ dominant HG002 HG002 chrX:72827280:A:T 2,.,. -1 -1 -1 -1 -1 -1 DMRTC1B 50_intron 23,.,. 1,.,. DMRTC1B/intron/ recessive HG002 HG002 chrX:72827280:A:T 2,.,. -1 -1 -1 -1 -1 -1 DMRTC1B 50_intron 23,.,. 1,.,. DMRTC1B/intron/ dominant HG002 HG002 chrX:72893554:A:AAAACTGGCAC 2,.,. -1 -1 -1 -1 -1 -1 DMRTC1 50_intron 7,.,. 1,.,. DMRTC1/intron/ dominant HG002 HG002 chrX:72893556:T:A 2,.,. -1 -1 -1 -1 -1 -1 DMRTC1 50_intron 8,.,. 1,.,. DMRTC1/intron/ recessive HG002 HG002 chrX:73024258:A:G 2,.,. 0.000178595 4 20 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:73385989:A:G 2,.,. -1 -1 -1 0.00275027 2 5 23,.,. 1,.,. recessive HG002 HG002 chrX:73742972:G:A 2,.,. 0.000162095 3 18 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chrX:73744811:ATTG:A 2,.,. 0.000180886 4 20 -1 -1 -1 34,.,. 1,.,. dominant HG002 HG002 chrX:73887724:G:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:73887724:G:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chrX:74265886:GTGATTCT:G 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. dominant HG002 HG002 chrX:74523026:G:GAC 2,.,. -1 -1 -1 -1 -1 -1 SLC16A2 50_intron 19,.,. 1,.,. SLC16A2/intron/ Allan-Herndon-Dudley syndrome 0.000 recessive HG002 HG002 chrX:74523026:G:GAC 2,.,. -1 -1 -1 -1 -1 -1 SLC16A2 50_intron 19,.,. 1,.,. SLC16A2/intron/ Allan-Herndon-Dudley syndrome 0.000 dominant HG002 HG002 chrX:74523027:G:A 2,.,. -1 -1 -1 -1 -1 -1 SLC16A2 50_intron 19,.,. 1,.,. SLC16A2/intron/ Allan-Herndon-Dudley syndrome 0.000 recessive HG002 HG002 chrX:74523027:G:A 2,.,. -1 -1 -1 -1 -1 -1 SLC16A2 50_intron 19,.,. 1,.,. SLC16A2/intron/ Allan-Herndon-Dudley syndrome 0.000 dominant HG002 HG002 chrX:74523028:A:C 2,.,. -1 -1 -1 -1 -1 -1 SLC16A2 50_intron 19,.,. 1,.,. SLC16A2/intron/ Allan-Herndon-Dudley syndrome 0.000 recessive HG002 HG002 chrX:74523028:A:C 2,.,. -1 -1 -1 -1 -1 -1 SLC16A2 50_intron 19,.,. 1,.,. SLC16A2/intron/ Allan-Herndon-Dudley syndrome 0.000 recessive HG002 HG002 chrX:74796080:A:G 2,.,. 0.000170829 2 15 -1 -1 -1 NEXMIF 50_intron 21,.,. 1,.,. NEXMIF/intron/ Non-syndromic X-linked intellectual disability;X-linked intellectual disability, Cantagrel type 0.000 recessive HG002 HG002 chrX:76415821:A:C 2,.,. 9.7965e-05 0 11 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:77293333:T:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:77293333:T:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:77405302:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:77405302:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:77483450:C:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:77483452:C:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:77483452:C:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:77483454:A:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:77483455:AT:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:77483455:AT:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:77483459:TAACCACAGAGTTGACCAA:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:77483459:TAACCACAGAGTTGACCAA:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:77670367:T:A 2,.,. 0.000106961 1 12 -1 -1 -1 ATRX 50_intron 25,.,. 1,.,. ATRX/intron/ Intellectual disability-hypotonic facies syndrome, X-linked, 1;Acquired hemoglobin H disease;Alpha thalassemia-X-linked intellectual disability syndrome 0.000 dominant HG002 HG002 chrX:77790932:GTGTATATATATATA:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chrX:77790932:GTGTATATATATATA:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. dominant HG002 HG002 chrX:78955348:T:A 2,.,. -1 -1 -1 -1 -1 -1 P2RY10 50_intron 27,.,. 1,.,. P2RY10/intron/;P2RY10/non_coding/ recessive HG002 HG002 chrX:78955348:T:A 2,.,. -1 -1 -1 -1 -1 -1 P2RY10 50_intron 27,.,. 1,.,. P2RY10/intron/;P2RY10/non_coding/ dominant HG002 HG002 chrX:78955349:A:C 2,.,. -1 -1 -1 -1 -1 -1 P2RY10 50_intron 27,.,. 1,.,. P2RY10/intron/;P2RY10/non_coding/ recessive HG002 HG002 chrX:78955349:A:C 2,.,. -1 -1 -1 -1 -1 -1 P2RY10 50_intron 27,.,. 1,.,. P2RY10/intron/;P2RY10/non_coding/ dominant HG002 HG002 chrX:78955350:C:A 2,.,. -1 -1 -1 -1 -1 -1 P2RY10 50_intron 27,.,. 1,.,. P2RY10/intron/;P2RY10/non_coding/ recessive HG002 HG002 chrX:78955350:C:A 2,.,. -1 -1 -1 -1 -1 -1 P2RY10 50_intron 27,.,. 1,.,. P2RY10/intron/;P2RY10/non_coding/ dominant HG002 HG002 chrX:79355897:C:CCT 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:79355897:C:CCT 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chrX:79693339:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:79892167:G:A 2,.,. 0.000153363 1 17 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chrX:79988988:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:80072615:G:GGGGAGGC 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:80072615:G:GGGGAGGC 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chrX:80072616:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:80072616:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chrX:80072617:A:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:80072617:A:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chrX:81310756:T:TTATATATATA 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:81310756:T:TTATATATATA 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:82790122:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chrX:82790122:T:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chrX:82790124:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chrX:82790124:C:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chrX:82790125:A:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chrX:82790125:A:C 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chrX:82860682:AAATTTTAATGGATATT:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:82860682:AAATTTTAATGGATATT:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chrX:82860699:A:C 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:82860699:A:C 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chrX:82860703:TTTAA:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:82860703:TTTAA:T 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chrX:83736911:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:83736911:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:83736912:A:G 2,.,. 9.03963e-06 1 1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:83736912:A:G 2,.,. 9.03963e-06 1 1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:83736913:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:83736913:G:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:83736914:T:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:83736914:T:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:83966395:G:A 2,.,. 0.000162019 4 18 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chrX:84872159:G:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:84872161:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:84872161:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:84992188:A:AAC 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:84992188:A:AAC 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chrX:84992189:C:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:84992189:C:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chrX:85088206:A:G 2,.,. -1 -1 -1 -1 -1 -1 APOOL 36_3_prime_utr 12,.,. 1,.,. APOOL/3_prime_utr/ENST00000622540;APOOL/3_prime_utr/ENST00000613473;APOOL/3_prime_utr/ENST00000373173 recessive HG002 HG002 chrX:85088206:A:G 2,.,. -1 -1 -1 -1 -1 -1 APOOL 36_3_prime_utr 12,.,. 1,.,. APOOL/3_prime_utr/ENST00000622540;APOOL/3_prime_utr/ENST00000613473;APOOL/3_prime_utr/ENST00000373173 dominant HG002 HG002 chrX:85568192:T:C 1,.,. -1 -1 -1 -1 -1 -1 16,.,. 0.3125,.,. recessive HG002 HG002 chrX:85568192:T:C 1,.,. -1 -1 -1 -1 -1 -1 16,.,. 0.3125,.,. recessive HG002 HG002 chrX:85568203:G:A 1,.,. -1 -1 -1 0.00385039 4 7 16,.,. 0.3125,.,. recessive HG002 HG002 chrX:86328706:C:T 2,.,. 9.83609e-05 0 11 -1 -1 -1 DACH2 50_intron 19,.,. 1,.,. DACH2/intron/ recessive HG002 HG002 chrX:86637172:G:A 2,.,. 0.000530262 4 36 -1 -1 -1 DACH2 50_intron 25,.,. 1,.,. DACH2/intron/ dominant HG002 HG002 chrX:87024959:TTATA:T 2,.,. -1 -1 -1 0.00165017 1 3 21,.,. 1,.,. recessive HG002 HG002 chrX:87024959:TTATA:T 2,.,. -1 -1 -1 0.00165017 1 3 21,.,. 1,.,. dominant HG002 HG002 chrX:87354569:T:C 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.352941,.,. recessive HG002 HG002 chrX:87911056:C:T 2,.,. 0.000660179 2 27 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:87964615:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:87964615:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:88905315:A:G 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.782609,.,. dominant HG002 HG002 chrX:88905336:A:T 1,.,. -1 -1 -1 -1 -1 -1 23,.,. 0.782609,.,. dominant HG002 HG002 chrX:89204410:GTATATATTATATTCGTAGGTGTCATAAAATAACGTCA:G 1,.,. -1 -1 -1 -1 -1 -1 42,.,. 0.357143,.,. dominant HG002 HG002 chrX:89545369:CAA:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:89545369:CAA:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:89545374:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:89545374:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:89545375:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:89545375:T:C 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:89882328:A:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:89882328:A:G 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:91033047:C:CAT 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:91033047:C:CAT 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:91033048:T:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:91033048:T:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:91396315:A:G 2,.,. 7.99559e-05 3 9 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:94773149:T:C 2,.,. 5.39229e-05 2 6 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chrX:95139849:G:GATAATATCTGTTATCTATATTATATATAGATAATATCTGTTATCTATATTATAT 2,.,. -1 -1 -1 0.00550055 4 10 21,.,. 1,.,. recessive HG002 HG002 chrX:95321550:A:G 2,.,. 6.27594e-05 2 7 0.00110011 1 2 21,.,. 1,.,. recessive HG002 HG002 chrX:95851934:T:C 2,.,. -1 -1 -1 0.00440044 3 8 16,.,. 1,.,. dominant HG002 HG002 chrX:96346187:A:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chrX:96346187:A:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chrX:98848605:T:TTACATATA 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:98934509:T:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:98934509:T:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:99239672:A:AT 2,.,. -1 -1 -1 0.00440044 3 8 25,.,. 1,.,. dominant HG002 HG002 chrX:99903878:TACACAC:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:99903878:TACACAC:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:99903896:C:T 2,.,. -1 -1 -1 0.0060506 1 11 14,.,. 1,.,. dominant HG002 HG002 chrX:100258863:T:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:100258863:T:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:100488262:A:C 2,.,. -1 -1 -1 0.00385039 2 7 21,.,. 1,.,. dominant HG002 HG002 chrX:100763175:C:CATAGATAGATAG 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chrX:100763175:C:CATAGATAGATAG 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chrX:101433235:C:T 2,.,. -1 -1 -1 -1 -1 -1 ARMCX4 50_intron 21,.,. 1,.,. ARMCX4/intron/;ARMCX4/non_coding/ recessive HG002 HG002 chrX:101433235:C:T 2,.,. -1 -1 -1 -1 -1 -1 ARMCX4 50_intron 21,.,. 1,.,. ARMCX4/intron/;ARMCX4/non_coding/ dominant HG002 HG002 chrX:101433242:A:G 2,.,. -1 -1 -1 -1 -1 -1 ARMCX4 50_intron 21,.,. 1,.,. ARMCX4/intron/;ARMCX4/non_coding/ dominant HG002 HG002 chrX:101433253:C:CATACATACACATATGT 2,.,. -1 -1 -1 -1 -1 -1 ARMCX4 50_intron 21,.,. 1,.,. ARMCX4/intron/;ARMCX4/non_coding/ dominant HG002 HG002 chrX:101842242:C:CTCTT 2,.,. 2.49719e-05 0 2 -1 -1 -1 NXF5 50_intron 13,.,. 1,.,. NXF5/non_coding/;NXF5/intron/ recessive HG002 HG002 chrX:101842242:C:CTCTT 2,.,. 2.49719e-05 0 2 -1 -1 -1 NXF5 50_intron 13,.,. 1,.,. NXF5/non_coding/;NXF5/intron/ dominant HG002 HG002 chrX:101854218:ACTTTT:A 2,.,. -1 -1 -1 -1 -1 -1 NXF5 53_non_coding 29,.,. 1,.,. NXF5/non_coding/ recessive HG002 HG002 chrX:101854218:ACTTTT:A 2,.,. -1 -1 -1 -1 -1 -1 NXF5 53_non_coding 29,.,. 1,.,. NXF5/non_coding/ dominant HG002 HG002 chrX:101854224:A:T 2,.,. -1 -1 -1 -1 -1 -1 NXF5 53_non_coding 31,.,. 1,.,. NXF5/non_coding/ recessive HG002 HG002 chrX:101854224:A:T 2,.,. -1 -1 -1 -1 -1 -1 NXF5 53_non_coding 31,.,. 1,.,. NXF5/non_coding/ recessive HG002 HG002 chrX:102264722:A:G 2,.,. -1 -1 -1 0.00825083 2 15 NXF2 50_intron 36,.,. 1,.,. NXF2/intron/ dominant HG002 HG002 chrX:102365858:T:TGGGG 2,.,. -1 -1 -1 -1 -1 -1 AC235565.2;NXF2B 50_intron 8,.,. 1,.,. AC235565.2/intron/;NXF2B/intron/ dominant HG002 HG002 chrX:102373316:T:G 2,.,. -1 -1 -1 -1 -1 -1 AC235565.2;NXF2B 50_intron 16,.,. 1,.,. AC235565.2/intron/;NXF2B/intron/ dominant HG002 HG002 chrX:102455187:T:A 2,.,. -1 -1 -1 0.00220022 4 4 AC235565.2 50_intron 11,.,. 1,.,. AC235565.2/intron/ dominant HG002 HG002 chrX:102671657:C:T 2,.,. 3.69188e-05 1 4 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:102671657:C:T 2,.,. 3.69188e-05 1 4 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:102882239:A:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:102882239:A:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:102882240:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:102882240:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:102882241:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:102882241:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:103749005:C:CTG 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:103749005:C:CTG 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:103749006:G:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:103749006:G:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:104032539:C:T 2,.,. -1 -1 -1 0.00495049 1 9 20,.,. 1,.,. dominant HG002 HG002 chrX:104121874:GATATATATATATATATATATATATATATATATATATATAT:G 2,.,. 0.0013947 0 4 -1 -1 -1 SLC25A53 50_intron 15,.,. 1,.,. SLC25A53/intron/ recessive HG002 HG002 chrX:104121874:GATATATATATATATATATATATATATATATATATATATAT:G 2,.,. 0.0013947 0 4 -1 -1 -1 SLC25A53 50_intron 15,.,. 1,.,. SLC25A53/intron/ dominant HG002 HG002 chrX:104121917:A:T 2,.,. -1 -1 -1 -1 -1 -1 SLC25A53 50_intron 16,.,. 1,.,. SLC25A53/intron/ recessive HG002 HG002 chrX:104121917:A:T 2,.,. -1 -1 -1 -1 -1 -1 SLC25A53 50_intron 16,.,. 1,.,. SLC25A53/intron/ dominant HG002 HG002 chrX:104121918:T:C 2,.,. 1.40424e-05 0 1 -1 -1 -1 SLC25A53 50_intron 16,.,. 1,.,. SLC25A53/intron/ recessive HG002 HG002 chrX:104121918:T:C 2,.,. 1.40424e-05 0 1 -1 -1 -1 SLC25A53 50_intron 16,.,. 1,.,. SLC25A53/intron/ dominant HG002 HG002 chrX:104695595:A:G 2,.,. 4.50582e-05 1 2 -1 -1 -1 IL1RAPL2 50_intron 17,.,. 1,.,. IL1RAPL2/intron/ recessive HG002 HG002 chrX:104695595:A:G 2,.,. 4.50582e-05 1 2 -1 -1 -1 IL1RAPL2 50_intron 17,.,. 1,.,. IL1RAPL2/intron/ dominant HG002 HG002 chrX:105268914:AAC:A 2,.,. -1 -1 -1 -1 -1 -1 IL1RAPL2 50_intron 18,.,. 1,.,. IL1RAPL2/intron/ recessive HG002 HG002 chrX:105268914:AAC:A 2,.,. -1 -1 -1 -1 -1 -1 IL1RAPL2 50_intron 18,.,. 1,.,. IL1RAPL2/intron/ dominant HG002 HG002 chrX:107036323:T:TTAA 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:107036323:T:TTAA 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:107152153:T:C 2,.,. -1 -1 -1 -1 -1 -1 NUP62CL 50_intron 27,.,. 1,.,. NUP62CL/intron/ dominant HG002 HG002 chrX:107152155:T:G 2,.,. -1 -1 -1 -1 -1 -1 NUP62CL 50_intron 29,.,. 1,.,. NUP62CL/intron/ recessive HG002 HG002 chrX:107152155:T:G 2,.,. -1 -1 -1 -1 -1 -1 NUP62CL 50_intron 29,.,. 1,.,. NUP62CL/intron/ recessive HG002 HG002 chrX:108294414:G:GGT 2,.,. 0.000415412 0 24 -1 -1 -1 COL4A6 50_intron 11,.,. 1,.,. COL4A6/intron/;COL4A6/non_coding/ Hearing loss, X-linked 6 0.000 recessive HG002 HG002 chrX:108989964:G:A 2,.,. 0.000108478 4 12 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:109054942:C:A 2,.,. -1 -1 -1 0.00165017 0 3 16,.,. 1,.,. recessive HG002 HG002 chrX:109054942:C:A 2,.,. -1 -1 -1 0.00165017 0 3 16,.,. 1,.,. recessive HG002 HG002 chrX:109361136:T:G 2,.,. 0.000124306 4 14 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:109957981:A:C 2,.,. 0.000123517 4 14 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chrX:110116822:T:TTGTGTGTG 2,.,. 0.000144305 3 14 -1 -1 -1 TMEM164 50_intron 15,.,. 1,.,. TMEM164/intron/;TMEM164/non_coding/ recessive HG002 HG002 chrX:110853624:G:C 2,.,. 0.000116714 4 13 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrX:111014123:C:T 2,.,. 0.000116121 4 13 -1 -1 -1 PAK3 50_intron 19,.,. 1,.,. PAK3/intron/ Intellectual disability, X-linked 30 0.000 recessive HG002 HG002 chrX:111024508:A:G 2,.,. 0.000116627 3 13 -1 -1 -1 PAK3 50_intron 22,.,. 1,.,. PAK3/intron/ Intellectual disability, X-linked 30 0.000 recessive HG002 HG002 chrX:111146118:A:G 2,.,. 0.000107083 4 12 -1 -1 -1 PAK3 50_intron 20,.,. 1,.,. PAK3/intron/;PAK3/non_coding/ Intellectual disability, X-linked 30 0.000 recessive HG002 HG002 chrX:111160603:C:A 2,.,. -1 -1 -1 0.00440044 2 8 PAK3 50_intron 16,.,. 1,.,. PAK3/intron/ Intellectual disability, X-linked 30 0.000 recessive HG002 HG002 chrX:111160623:C:T 2,.,. -1 -1 -1 0.00440044 2 8 PAK3 50_intron 15,.,. 1,.,. PAK3/intron/ Intellectual disability, X-linked 30 0.000 recessive HG002 HG002 chrX:111160627:C:T 2,.,. 1.84301e-05 0 2 0.00440044 2 8 PAK3 50_intron 16,.,. 1,.,. PAK3/intron/ Intellectual disability, X-linked 30 0.000 recessive HG002 HG002 chrX:111160630:C:A 2,.,. -1 -1 -1 0.00440044 2 8 PAK3 50_intron 16,.,. 1,.,. PAK3/intron/ Intellectual disability, X-linked 30 0.000 recessive HG002 HG002 chrX:111201685:C:G 2,.,. 9.92314e-05 3 11 -1 -1 -1 PAK3 50_intron 15,.,. 1,.,. PAK3/intron/ Intellectual disability, X-linked 30 0.000 recessive HG002 HG002 chrX:111554821:T:A 2,.,. 0.000108251 4 12 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chrX:111965825:G:T 2,.,. 3.59234e-05 1 4 -1 -1 -1 TRPC5 50_intron 11,.,. 1,.,. TRPC5/intron/ recessive HG002 HG002 chrX:111965825:G:T 2,.,. 3.59234e-05 1 4 -1 -1 -1 TRPC5 50_intron 11,.,. 1,.,. TRPC5/intron/ recessive HG002 HG002 chrX:112049901:C:T 2,.,. 0.000187456 4 21 -1 -1 -1 TRPC5 50_intron 17,.,. 1,.,. TRPC5/intron/ dominant HG002 HG002 chrX:112359536:C:CTTGAGA 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chrX:112359536:C:CTTGAGA 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chrX:112359538:A:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chrX:112359538:A:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chrX:112890902:C:CCGGACTG 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:112890903:T:C 2,.,. 1.29963e-05 0 1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:112890903:T:C 2,.,. 1.29963e-05 0 1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:113290337:A:G 2,.,. 5.38638e-05 2 6 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:113574958:T:C 2,.,. 4.47107e-05 1 5 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chrX:114400840:T:TATC 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:114400840:T:TATC 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chrX:114400842:C:G 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:114400842:C:G 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chrX:115309941:A:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:115309944:A:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:115309944:A:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:115309946:T:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:115309946:T:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:115347180:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:115347180:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:115552791:TGTG:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:115552791:TGTG:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:115552795:G:C 2,.,. 0.0060241 1 4 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:115552795:G:C 2,.,. 0.0060241 1 4 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:115552796:C:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:115552796:C:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:116116222:A:G 1,.,. 5.81987e-05 0 2 -1 -1 -1 24,.,. 0.541667,.,. dominant HG002 HG002 chrX:116116223:TATATGTATAC:T 1,.,. -1 -1 -1 -1 -1 -1 25,.,. 0.48,.,. recessive HG002 HG002 chrX:116646783:A:G 2,.,. 0.000181594 2 20 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:116809762:C:A 2,.,. 0.000180938 2 20 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:116863937:ATATAT:A 2,.,. -1 -1 -1 -1 -1 -1 32,.,. 1,.,. dominant HG002 HG002 chrX:116871380:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:116871380:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:116871382:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:116871382:A:G 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:116871384:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:116871384:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:117115028:CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:117115028:CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:117721061:GGTC:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:117721061:GGTC:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:117721065:C:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:117721065:C:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:117730210:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:117730210:C:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:118529353:A:G 2,.,. 1.78153e-05 1 2 -1 -1 -1 DOCK11 50_intron 24,.,. 1,.,. DOCK11/intron/ Autoinflammatory disease, multisystem, with immune dysregulation, X-linked recessive HG002 HG002 chrX:118529353:A:G 2,.,. 1.78153e-05 1 2 -1 -1 -1 DOCK11 50_intron 24,.,. 1,.,. DOCK11/intron/ Autoinflammatory disease, multisystem, with immune dysregulation, X-linked recessive HG002 HG002 chrX:118626053:C:T 2,.,. 0.000121583 3 13 -1 -1 -1 DOCK11 50_intron 16,.,. 1,.,. DOCK11/intron/ Autoinflammatory disease, multisystem, with immune dysregulation, X-linked dominant HG002 HG002 chrX:118835962:G:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:118835962:G:A 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:118835963:C:G 2,.,. 2.9111e-05 0 3 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:118835963:C:G 2,.,. 2.9111e-05 0 3 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:118895795:T:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. dominant HG002 HG002 chrX:119201696:T:TCTTTATA 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chrX:119201696:T:TCTTTATA 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chrX:119201697:T:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chrX:119201697:T:A 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chrX:119571044:AAAG:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chrX:119571049:A:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrX:119571049:A:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chrX:119571051:G:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chrX:119571052:A:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chrX:119950435:A:T 2,.,. -1 -1 -1 -1 -1 -1 RHOXF1P3 53_non_coding 22,.,. 1,.,. RHOXF1P3/non_coding/ recessive HG002 HG002 chrX:119950435:A:T 2,.,. -1 -1 -1 -1 -1 -1 RHOXF1P3 53_non_coding 22,.,. 1,.,. RHOXF1P3/non_coding/ dominant HG002 HG002 chrX:119950436:T:A 2,.,. -1 -1 -1 0.00110011 1 2 RHOXF1P3 53_non_coding 22,.,. 1,.,. RHOXF1P3/non_coding/ recessive HG002 HG002 chrX:119950436:T:A 2,.,. -1 -1 -1 0.00110011 1 2 RHOXF1P3 53_non_coding 22,.,. 1,.,. RHOXF1P3/non_coding/ dominant HG002 HG002 chrX:119950437:A:G 2,.,. -1 -1 -1 -1 -1 -1 RHOXF1P3 53_non_coding 22,.,. 1,.,. RHOXF1P3/non_coding/ recessive HG002 HG002 chrX:119950437:A:G 2,.,. -1 -1 -1 -1 -1 -1 RHOXF1P3 53_non_coding 22,.,. 1,.,. RHOXF1P3/non_coding/ dominant HG002 HG002 chrX:119950440:T:G 2,.,. -1 -1 -1 -1 -1 -1 RHOXF1P3 53_non_coding 21,.,. 1,.,. RHOXF1P3/non_coding/ recessive HG002 HG002 chrX:119950440:T:G 2,.,. -1 -1 -1 -1 -1 -1 RHOXF1P3 53_non_coding 21,.,. 1,.,. RHOXF1P3/non_coding/ recessive HG002 HG002 chrX:120112469:A:T 2,.,. -1 -1 -1 0.00275027 0 5 RHOXF1 50_intron 16,.,. 1,.,. RHOXF1/intron/ dominant HG002 HG002 chrX:120112470:T:C 2,.,. -1 -1 -1 -1 -1 -1 RHOXF1 50_intron 16,.,. 1,.,. RHOXF1/intron/ recessive HG002 HG002 chrX:120566378:T:TGTATATATATGTATATATAC 2,.,. 0.000440313 4 36 -1 -1 -1 CUL4B 50_intron 14,.,. 1,.,. CUL4B/intron/ X-linked intellectual disability Cabezas type 0.000 dominant HG002 HG002 chrX:120588009:A:C 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrX:120588009:A:C 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. dominant HG002 HG002 chrX:120955664:G:T 2,.,. -1 -1 -1 -1 -1 -1 CT47A7 14_missense 7,.,. 1,.,. CT47A7/missense/ENST00000434883 dominant HG002 HG002 chrX:120955665:T:C 2,.,. -1 -1 -1 -1 -1 -1 CT47A7 30_synonymous 7,.,. 1,.,. CT47A7/synonymous/ENST00000434883 dominant HG002 HG002 chrX:121384133:G:A 2,.,. -1 -1 -1 0.00220022 4 4 20,.,. 1,.,. recessive HG002 HG002 chrX:121384133:G:A 2,.,. -1 -1 -1 0.00220022 4 4 20,.,. 1,.,. recessive HG002 HG002 chrX:121400523:T:C 2,.,. 5.37962e-05 1 6 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chrX:121794808:C:T 2,.,. 8.32909e-05 1 9 0.00110011 0 2 32,.,. 1,.,. dominant HG002 HG002 chrX:122058260:C:T 2,.,. 8.87382e-06 0 1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:122058260:C:T 2,.,. 8.87382e-06 0 1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrX:122259482:T:G 2,.,. 8.91377e-06 0 1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chrX:122259482:T:G 2,.,. 8.91377e-06 0 1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chrX:122318767:GCTATAT:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:122318767:GCTATAT:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:122318774:A:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:122318774:A:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:123146855:C:A 2,.,. 4.46273e-05 0 5 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chrX:123778662:A:ATTTTT 2,.,. -1 -1 -1 0.00165017 1 3 9,.,. 1,.,. dominant HG002 HG002 chrX:123877992:T:G 2,.,. -1 -1 -1 -1 -1 -1 XIAP 50_intron 14,.,. 1,.,. XIAP/intron/;XIAP/non_coding/ X-linked lymphoproliferative disease due to SH2D1A deficiency;X-linked lymphoproliferative disease due to XIAP deficiency 0.000 recessive HG002 HG002 chrX:123877992:T:G 2,.,. -1 -1 -1 -1 -1 -1 XIAP 50_intron 14,.,. 1,.,. XIAP/intron/;XIAP/non_coding/ X-linked lymphoproliferative disease due to SH2D1A deficiency;X-linked lymphoproliferative disease due to XIAP deficiency 0.000 recessive HG002 HG002 chrX:123903636:G:T 2,.,. -1 -1 -1 0.00550055 2 10 XIAP 50_intron 12,.,. 1,.,. XIAP/non_coding/;XIAP/intron/ X-linked lymphoproliferative disease due to SH2D1A deficiency;X-linked lymphoproliferative disease due to XIAP deficiency 0.000 dominant HG002 HG002 chrX:123938686:T:C 2,.,. 3.60201e-05 0 4 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chrX:123938686:T:C 2,.,. 3.60201e-05 0 4 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chrX:124276518:T:C 2,.,. 3.55824e-05 0 4 -1 -1 -1 STAG2 53_non_coding 22,.,. 1,.,. STAG2/non_coding/ Mullegama-Klein-Martinez syndrome;Holoprosencephaly 13, X-linked 0.000 recessive HG002 HG002 chrX:124276518:T:C 2,.,. 3.55824e-05 0 4 -1 -1 -1 STAG2 53_non_coding 22,.,. 1,.,. STAG2/non_coding/ Mullegama-Klein-Martinez syndrome;Holoprosencephaly 13, X-linked 0.000 dominant HG002 HG002 chrX:125036235:C:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:125036235:C:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chrX:125180088:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:125180088:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180092:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180108:G:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chrX:125180111:A:G 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chrX:125180113:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:125180113:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180116:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:125180116:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180119:G:T 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chrX:125180124:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:125180124:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180128:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180134:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180137:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:125180137:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180138:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:125180138:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180140:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:125180140:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180145:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180148:C:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:125180148:C:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180151:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180169:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180172:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:125180172:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180176:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180179:C:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:125180179:C:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180182:C:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180185:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180186:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:125180186:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180188:T:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180192:T:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180193:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180195:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180196:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180199:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:125180199:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:125180202:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:126744958:A:T 2,.,. 0.000170217 4 19 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:126890777:C:T 2,.,. 0.000168988 4 19 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chrX:127002870:G:T 2,.,. 0.00016097 3 18 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:127010172:G:T 2,.,. 0.000162492 3 18 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chrX:127076267:ATAAT:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrX:127296936:A:G 2,.,. 0.000170479 4 19 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrX:127324340:T:C 2,.,. 0.000179603 4 20 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrX:127556550:T:C 2,.,. 0.000170702 4 19 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chrX:127558641:TATATATATATATATAGACACACACACACAC:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:127558641:TATATATATATATATAGACACACACACACAC:T 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chrX:127624572:A:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:127624572:A:C 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:127748420:T:TTG 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:127748420:T:TTG 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:127748421:G:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:127748421:G:T 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:128128721:T:C 2,.,. 0.000169873 4 19 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:128427115:T:C 2,.,. 0.000171432 4 19 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chrX:128516247:T:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:128516247:T:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:128516254:C:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:128516254:C:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:128516259:T:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:128516259:T:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:128940364:A:G 2,.,. 0.00016071 4 18 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:129228317:A:C 2,.,. 0.000178817 4 20 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:129268536:G:A 2,.,. 0.000151864 3 17 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:129381446:A:G 2,.,. 0.000115724 3 13 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:129559531:A:G 2,.,. 0.000116312 3 13 -1 -1 -1 OCRL 50_intron 28,.,. 1,.,. OCRL/intron/ Lowe syndrome;Dent disease type 2 0.000 recessive HG002 HG002 chrX:129563667:A:G 2,.,. 0.000116338 3 13 -1 -1 -1 OCRL 50_intron 29,.,. 1,.,. OCRL/intron/ Lowe syndrome;Dent disease type 2 0.000 recessive HG002 HG002 chrX:129665098:C:T 2,.,. 0.000116202 3 13 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:129742858:T:G 2,.,. 0.000125188 3 14 -1 -1 -1 XPNPEP2 50_intron 12,.,. 1,.,. XPNPEP2/intron/ Susceptibility to angioedema induced by ACE inhibitors 0.000 dominant HG002 HG002 chrX:130091042:T:G 2,.,. -1 -1 -1 -1 -1 -1 ELF4 50_intron 14,.,. 1,.,. ELF4/intron/ Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 0.000 recessive HG002 HG002 chrX:130091042:T:G 2,.,. -1 -1 -1 -1 -1 -1 ELF4 50_intron 14,.,. 1,.,. ELF4/intron/ Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 0.000 recessive HG002 HG002 chrX:131378793:C:A 2,.,. 0.000107692 4 11 -1 -1 -1 IGSF1 50_intron 30,.,. 1,.,. IGSF1/intron/ X-linked central congenital hypothyroidism with late-onset testicular enlargement 0.000 dominant HG002 HG002 chrX:132931950:C:G 2,.,. 0.00952381 1 2 -1 -1 -1 HS6ST2 50_intron 27,.,. 1,.,. HS6ST2/intron/ Paganini-Miozzo syndrome 0.000 recessive HG002 HG002 chrX:132931950:C:G 2,.,. 0.00952381 1 2 -1 -1 -1 HS6ST2 50_intron 27,.,. 1,.,. HS6ST2/intron/ Paganini-Miozzo syndrome 0.000 dominant HG002 HG002 chrX:132931952:G:C 2,.,. 1.85424e-05 1 2 -1 -1 -1 HS6ST2 50_intron 27,.,. 1,.,. HS6ST2/intron/ Paganini-Miozzo syndrome 0.000 recessive HG002 HG002 chrX:132931952:G:C 2,.,. 1.85424e-05 1 2 -1 -1 -1 HS6ST2 50_intron 27,.,. 1,.,. HS6ST2/intron/ Paganini-Miozzo syndrome 0.000 dominant HG002 HG002 chrX:132931953:A:G 2,.,. -1 -1 -1 -1 -1 -1 HS6ST2 50_intron 27,.,. 1,.,. HS6ST2/intron/ Paganini-Miozzo syndrome 0.000 recessive HG002 HG002 chrX:132931953:A:G 2,.,. -1 -1 -1 -1 -1 -1 HS6ST2 50_intron 27,.,. 1,.,. HS6ST2/intron/ Paganini-Miozzo syndrome 0.000 recessive HG002 HG002 chrX:132994267:A:ATTC 1,.,. 0.00012796 1 14 0.0132013 1 24 18,.,. 0.388889,.,. recessive HG002 HG002 chrX:132994279:CTTA:C 1,.,. 0.000166761 4 18 0.0143014 2 26 18,.,. 0.388889,.,. dominant HG002 HG002 chrX:133519486:C:T 2,.,. 1.90612e-05 0 2 0.00220022 1 4 15,.,. 1,.,. recessive HG002 HG002 chrX:133519486:C:T 2,.,. 1.90612e-05 0 2 0.00220022 1 4 15,.,. 1,.,. dominant HG002 HG002 chrX:135116655:CCTCTG:C 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:135116655:CCTCTG:C 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chrX:135521751:T:TGC 2,.,. -1 -1 -1 -1 -1 -1 INTS6L 50_intron 18,.,. 1,.,. INTS6L/intron/;INTS6L/non_coding/ recessive HG002 HG002 chrX:135521751:T:TGC 2,.,. -1 -1 -1 -1 -1 -1 INTS6L 50_intron 18,.,. 1,.,. INTS6L/intron/;INTS6L/non_coding/ dominant HG002 HG002 chrX:135521752:C:G 2,.,. -1 -1 -1 -1 -1 -1 INTS6L 50_intron 18,.,. 1,.,. INTS6L/intron/;INTS6L/non_coding/ recessive HG002 HG002 chrX:135521752:C:G 2,.,. -1 -1 -1 -1 -1 -1 INTS6L 50_intron 18,.,. 1,.,. INTS6L/intron/;INTS6L/non_coding/ recessive HG002 HG002 chrX:135723952:G:GTATATATA 2,.,. 0.00083612 0 5 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:135759362:A:G 2,.,. 0.00156169 0 3 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:135759382:T:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:135903774:A:G 2,.,. -1 -1 -1 -1 -1 -1 SAGE1 50_intron 29,.,. 1,.,. SAGE1/intron/ recessive HG002 HG002 chrX:135903774:A:G 2,.,. -1 -1 -1 -1 -1 -1 SAGE1 50_intron 29,.,. 1,.,. SAGE1/intron/ dominant HG002 HG002 chrX:135903776:CATCTTGCTGCCTA:C 2,.,. -1 -1 -1 -1 -1 -1 SAGE1 50_intron 29,.,. 1,.,. SAGE1/intron/ recessive HG002 HG002 chrX:135903776:CATCTTGCTGCCTA:C 2,.,. -1 -1 -1 -1 -1 -1 SAGE1 50_intron 29,.,. 1,.,. SAGE1/intron/ dominant HG002 HG002 chrX:135903791:C:A 2,.,. -1 -1 -1 -1 -1 -1 SAGE1 50_intron 29,.,. 1,.,. SAGE1/intron/ recessive HG002 HG002 chrX:135903791:C:A 2,.,. -1 -1 -1 -1 -1 -1 SAGE1 50_intron 29,.,. 1,.,. SAGE1/intron/ recessive HG002 HG002 chrX:136465665:T:A 2,.,. 0.000135727 4 15 0.00110011 0 2 17,.,. 1,.,. recessive HG002 HG002 chrX:136854311:G:T 2,.,. 4.48724e-05 1 5 -1 -1 -1 RBMX 53_non_coding 23,.,. 1,.,. RBMX/non_coding/ Severe X-linked intellectual disability, Gustavson type;Syndromic X-linked intellectual disability Shashi type 0.000 recessive HG002 HG002 chrX:137103807:T:C 2,.,. -1 -1 -1 0.00495049 2 9 27,.,. 1,.,. recessive HG002 HG002 chrX:138193870:G:C 2,.,. 5.36692e-05 3 6 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chrX:138984690:G:A 2,.,. -1 -1 -1 -1 -1 -1 FGF13 50_intron 13,.,. 1,.,. FGF13/intron/ Developmental and epileptic encephalopathy, 90;Intellectual developmental disorder, X-linked 110 0.000 recessive HG002 HG002 chrX:138984690:G:A 2,.,. -1 -1 -1 -1 -1 -1 FGF13 50_intron 13,.,. 1,.,. FGF13/intron/ Developmental and epileptic encephalopathy, 90;Intellectual developmental disorder, X-linked 110 0.000 dominant HG002 HG002 chrX:138984693:G:GAGGAGAAGA 2,.,. 4.17897e-05 1 3 -1 -1 -1 FGF13 50_intron 12,.,. 1,.,. FGF13/intron/ Developmental and epileptic encephalopathy, 90;Intellectual developmental disorder, X-linked 110 0.000 recessive HG002 HG002 chrX:139153347:GA:G 2,.,. -1 -1 -1 0.00330033 4 6 FGF13 50_intron 12,.,. 1,.,. FGF13/intron/ Developmental and epileptic encephalopathy, 90;Intellectual developmental disorder, X-linked 110 0.000 dominant HG002 HG002 chrX:139503118:A:G 1,.,. -1 -1 -1 -1 -1 -1 13,.,. 0.769231,.,. dominant HG002 HG002 chrX:139503256:C:A 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.611111,.,. dominant HG002 HG002 chrX:140080843:A:C 2,.,. -1 -1 -1 0.00165017 2 3 31,.,. 1,.,. recessive HG002 HG002 chrX:140080843:A:C 2,.,. -1 -1 -1 0.00165017 2 3 31,.,. 1,.,. recessive HG002 HG002 chrX:140234084:A:G 2,.,. 8.94678e-05 4 10 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chrX:140510194:GCCAAA:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:140510194:GCCAAA:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:140510201:C:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:140510201:C:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:140596211:G:A 2,.,. 8.07363e-05 3 9 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:140865077:T:G 2,.,. 8.11286e-05 2 9 0.00110011 1 2 11,.,. 1,.,. dominant HG002 HG002 chrX:141039710:C:T 2,.,. -1 -1 -1 0.00220022 1 4 28,.,. 1,.,. recessive HG002 HG002 chrX:141039710:C:T 2,.,. -1 -1 -1 0.00220022 1 4 28,.,. 1,.,. dominant HG002 HG002 chrX:141096555:A:AAAAGAGCCCGCAT 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chrX:141096555:A:AAAAGAGCCCGCAT 2,.,. -1 -1 -1 -1 -1 -1 29,.,. 1,.,. dominant HG002 HG002 chrX:141096558:A:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chrX:141096558:A:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chrX:141236347:C:CAGT 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chrX:141236347:C:CAGT 2,.,. -1 -1 -1 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chrX:141236350:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chrX:141236350:A:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chrX:141547682:G:A 2,.,. -1 -1 -1 0.00220022 1 4 7,.,. 1,.,. dominant HG002 HG002 chrX:141564927:C:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrX:141564927:C:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrX:141906509:C:G 2,.,. 0.00175344 1 182 0.00220022 2 4 MAGEC1 14_missense 19,.,. 1,.,. MAGEC1/missense/ENST00000285879 dominant HG002 HG002 chrX:141906518:C:T 2,.,. -1 -1 -1 0.00220022 2 4 MAGEC1 14_missense 19,.,. 1,.,. MAGEC1/missense/ENST00000285879 recessive HG002 HG002 chrX:141906518:C:T 2,.,. -1 -1 -1 0.00220022 2 4 MAGEC1 14_missense 19,.,. 1,.,. MAGEC1/missense/ENST00000285879 recessive HG002 HG002 chrX:141930663:G:C 2,.,. 8.89537e-05 3 10 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chrX:142275095:A:G 2,.,. 1.78592e-05 0 2 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chrX:142275095:A:G 2,.,. 1.78592e-05 0 2 -1 -1 -1 10,.,. 1,.,. dominant HG002 HG002 chrX:142275096:T:A 2,.,. 3.28501e-05 2 3 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chrX:142275096:T:A 2,.,. 3.28501e-05 2 3 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chrX:142299529:C:T 2,.,. 4.46915e-05 2 5 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:142332743:G:T 2,.,. 5.40336e-05 1 3 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:142332743:G:T 2,.,. 5.40336e-05 1 3 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:142467895:A:G 2,.,. 5.38716e-05 3 6 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:142740172:T:A 2,.,. 7.19437e-05 1 8 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chrX:142842272:G:A 2,.,. 2.67628e-05 1 3 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:142842272:G:A 2,.,. 2.67628e-05 1 3 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:142886939:A:G 2,.,. 4.49265e-05 1 5 -1 -1 -1 22,.,. 1,.,. dominant HG002 HG002 chrX:143494816:A:AAAAAAAAAGTACT 2,.,. -1 -1 -1 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chrX:143577566:C:G 2,.,. 8.95905e-05 2 10 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chrX:143655395:T:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chrX:143655395:T:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. dominant HG002 HG002 chrX:143655422:T:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chrX:143655422:T:A 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chrX:143656736:C:T 2,.,. -1 -1 -1 0.00330033 3 6 14,.,. 1,.,. dominant HG002 HG002 chrX:143656763:C:T 2,.,. -1 -1 -1 0.00220022 2 4 14,.,. 1,.,. recessive HG002 HG002 chrX:143656763:C:T 2,.,. -1 -1 -1 0.00220022 2 4 14,.,. 1,.,. dominant HG002 HG002 chrX:143656790:C:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrX:143656790:C:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. dominant HG002 HG002 chrX:143656835:TAA:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:143656835:TAA:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:143656900:GTA:G 2,.,. 0.000894721 0 3 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:143656900:GTA:G 2,.,. 0.000894721 0 3 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:143656926:T:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrX:143656926:T:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:143657549:A:T 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. dominant HG002 HG002 chrX:143664014:C:T 2,.,. 1.79714e-05 1 2 -1 -1 -1 26,.,. 1,.,. recessive HG002 HG002 chrX:143664014:C:T 2,.,. 1.79714e-05 1 2 -1 -1 -1 26,.,. 1,.,. dominant HG002 HG002 chrX:143754103:T:C 2,.,. 2.6894e-05 1 3 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:143754103:T:C 2,.,. 2.6894e-05 1 3 -1 -1 -1 21,.,. 1,.,. dominant HG002 HG002 chrX:143832285:T:C 2,.,. 2.68329e-05 1 3 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chrX:143832285:T:C 2,.,. 2.68329e-05 1 3 -1 -1 -1 28,.,. 1,.,. dominant HG002 HG002 chrX:143855972:A:G 2,.,. 2.68015e-05 1 3 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:143855972:A:G 2,.,. 2.68015e-05 1 3 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:144286486:A:ATCTC 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:144286486:A:ATCTC 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:144323526:CTTTTT:C 2,.,. 0.000133078 0 8 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrX:144659200:G:C 2,.,. -1 -1 -1 0.00990099 1 18 23,.,. 1,.,. recessive HG002 HG002 chrX:144675846:A:G 2,.,. 5.3803e-05 2 6 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrX:144933666:G:A 2,.,. 6.30108e-05 2 7 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrX:146336750:C:T 2,.,. 5.86058e-05 1 6 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:146822738:T:G 2,.,. 7.78612e-05 0 8 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:146823268:T:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:146823268:T:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:147032333:AACTT:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chrX:147032333:AACTT:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chrX:147279412:C:A 1,.,. 8.12414e-05 2 9 0.0176018 2 32 24,.,. 0.333333,.,. recessive HG002 HG002 chrX:147450228:C:T 2,.,. 6.27606e-05 2 7 -1 -1 -1 30,.,. 1,.,. dominant HG002 HG002 chrX:147992520:C:A 1,.,. -1 -1 -1 -1 -1 -1 FMR1NB 50_intron 17,.,. 0.294118,.,. FMR1NB/intron/ recessive HG002 HG002 chrX:148409648:C:A 2,.,. 6.53186e-05 1 7 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chrX:148429715:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:148429715:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrX:149073400:C:T 2,.,. 0.000161098 3 18 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrX:149438939:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrX:149438939:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrX:149438944:AAAGAG:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:149438944:AAAGAG:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrX:149537293:G:A 2,.,. 0.000171345 3 18 0.00110011 0 2 AC244197.3 50_intron 9,.,. 1,.,. AC244197.3/intron/ dominant HG002 HG002 chrX:149654184:T:C 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. recessive HG002 HG002 chrX:149654184:T:C 2,.,. -1 -1 -1 -1 -1 -1 11,.,. 1,.,. dominant HG002 HG002 chrX:149731885:T:C 2,.,. -1 -1 -1 0.00110011 1 2 9,.,. 1,.,. recessive HG002 HG002 chrX:149731885:T:C 2,.,. -1 -1 -1 0.00110011 1 2 9,.,. 1,.,. dominant HG002 HG002 chrX:149773759:G:A 2,.,. -1 -1 -1 0.00220022 1 4 11,.,. 1,.,. recessive HG002 HG002 chrX:149773759:G:A 2,.,. -1 -1 -1 0.00220022 1 4 11,.,. 1,.,. recessive HG002 HG002 chrX:150837809:T:C 2,.,. 6.2167e-05 2 7 -1 -1 -1 CD99L2 50_intron 14,.,. 1,.,. CD99L2/intron/;CD99L2/non_coding/ dominant HG002 HG002 chrX:150950645:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrX:150950645:A:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. dominant HG002 HG002 chrX:151035394:ACCAAATATAC:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:151035394:ACCAAATATAC:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:151073371:T:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrX:151073371:T:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. dominant HG002 HG002 chrX:151241570:A:AATTCTG 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:151241570:A:AATTCTG 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:151241575:A:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:151241575:A:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrX:151374455:T:TCTGG 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:151374455:T:TCTGG 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chrX:151374456:T:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. recessive HG002 HG002 chrX:151374456:T:A 2,.,. -1 -1 -1 -1 -1 -1 24,.,. 1,.,. dominant HG002 HG002 chrX:151709989:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:151709989:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrX:151864195:C:T 2,.,. 9.88267e-05 0 11 -1 -1 -1 10,.,. 1,.,. recessive HG002 HG002 chrX:151945537:G:A 2,.,. 9.91902e-05 1 11 -1 -1 -1 29,.,. 1,.,. recessive HG002 HG002 chrX:151954949:C:T 2,.,. 5.3722e-05 0 6 -1 -1 -1 GABRE 14_missense 21,.,. 1,.,. GABRE/missense/ENST00000370328 recessive HG002 HG002 chrX:151989920:C:G 2,.,. 5.6746e-05 1 5 -1 -1 -1 17,.,. 1,.,. dominant HG002 HG002 chrX:152007470:C:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chrX:152007470:C:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chrX:152073450:T:G 2,.,. 8.56737e-05 2 5 -1 -1 -1 13,.,. 1,.,. dominant HG002 HG002 chrX:152693215:T:C 1,.,. -1 -1 -1 0.00110011 1 2 16,.,. 0.5,.,. recessive HG002 HG002 chrX:152694311:T:G 1,.,. -1 -1 -1 0.00660066 4 12 16,.,. 0.3125,.,. dominant HG002 HG002 chrX:152695602:G:C 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.294118,.,. recessive HG002 HG002 chrX:152695602:G:C 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.294118,.,. dominant HG002 HG002 chrX:153080300:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. recessive HG002 HG002 chrX:153080300:C:T 2,.,. -1 -1 -1 -1 -1 -1 7,.,. 1,.,. dominant HG002 HG002 chrX:153127345:C:T 1,.,. -1 -1 -1 0.00110011 0 2 AC152010.1 53_non_coding 35,.,. 0.571429,.,. AC152010.1/non_coding/ dominant HG002 HG002 chrX:153136109:C:T 1,.,. -1 -1 -1 -1 -1 -1 20,.,. 0.45,.,. dominant HG002 HG002 chrX:153624008:GAA:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrX:153624008:GAA:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. dominant HG002 HG002 chrX:153624011:G:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrX:153624011:G:T 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. dominant HG002 HG002 chrX:153624012:C:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrX:153624012:C:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. dominant HG002 HG002 chrX:153948721:C:T 1,.,. -1 -1 -1 -1 -1 -1 HCFC1 36_3_prime_utr 6,.,. 0.333333,.,. HCFC1/3_prime_utr/ENST00000444191;HCFC1/3_prime_utr/ENST00000310441;HCFC1/3_prime_utr/ENST00000369984 Methylmalonic acidemia with homocystinuria, type cblX;Disorders of Intracellular Cobalamin Metabolism 0.000 recessive HG002 HG002 chrX:154079469:T:C 2,.,. 9.77126e-05 4 11 -1 -1 -1 MECP2 50_intron 17,.,. 1,.,. MECP2/intron/;MECP2/non_coding/ Autism, susceptibility to, X-linked 3;Syndromic X-linked intellectual disability Lubs type;X-linked intellectual disability-psychosis-macroorchidism syndrome 0.000 recessive HG002 HG002 chrX:154084689:TAA:T 2,.,. 0.000250707 2 28 -1 -1 -1 MECP2 50_intron 12,.,. 1,.,. MECP2/intron/;MECP2/non_coding/ Autism, susceptibility to, X-linked 3;Syndromic X-linked intellectual disability Lubs type;X-linked intellectual disability-psychosis-macroorchidism syndrome 0.000 dominant HG002 HG002 chrX:154088984:C:CTACT 2,.,. -1 -1 -1 -1 -1 -1 MECP2 50_intron 15,.,. 1,.,. MECP2/intron/;MECP2/non_coding/ Autism, susceptibility to, X-linked 3;Syndromic X-linked intellectual disability Lubs type;X-linked intellectual disability-psychosis-macroorchidism syndrome 0.000 recessive HG002 HG002 chrX:154088984:C:CTACT 2,.,. -1 -1 -1 -1 -1 -1 MECP2 50_intron 15,.,. 1,.,. MECP2/intron/;MECP2/non_coding/ Autism, susceptibility to, X-linked 3;Syndromic X-linked intellectual disability Lubs type;X-linked intellectual disability-psychosis-macroorchidism syndrome 0.000 dominant HG002 HG002 chrX:154088986:C:A 2,.,. -1 -1 -1 -1 -1 -1 MECP2 50_intron 15,.,. 1,.,. MECP2/intron/;MECP2/non_coding/ Autism, susceptibility to, X-linked 3;Syndromic X-linked intellectual disability Lubs type;X-linked intellectual disability-psychosis-macroorchidism syndrome 0.000 recessive HG002 HG002 chrX:154088986:C:A 2,.,. -1 -1 -1 -1 -1 -1 MECP2 50_intron 15,.,. 1,.,. MECP2/intron/;MECP2/non_coding/ Autism, susceptibility to, X-linked 3;Syndromic X-linked intellectual disability Lubs type;X-linked intellectual disability-psychosis-macroorchidism syndrome 0.000 recessive HG002 HG002 chrX:154562256:C:T 2,.,. -1 -1 -1 0.00550055 1 10 IKBKG 50_intron 8,.,. 1,.,. IKBKG/intron/;IKBKG/non_coding/ Autoinflammatory disease, X-linked;Immunodeficiency 33;Ectodermal dysplasia and immunodeficiency 1;Incontinentia pigmenti syndrome 0.000 recessive HG002 HG002 chrX:154589254:C:A 2,.,. -1 -1 -1 0.0060506 1 11 16,.,. 1,.,. recessive HG002 HG002 chrX:154627604:A:G 2,.,. -1 -1 -1 0.00660066 1 12 13,.,. 1,.,. dominant HG002 HG002 chrX:155608377:T:C 2,.,. -1 -1 -1 -1 -1 -1 TMLHE 50_intron 23,.,. 1,.,. TMLHE/intron/ Epsilon-trimethyllysine hydroxylase deficiency 0.000 recessive HG002 HG002 chrX:155608377:T:C 2,.,. -1 -1 -1 -1 -1 -1 TMLHE 50_intron 23,.,. 1,.,. TMLHE/intron/ Epsilon-trimethyllysine hydroxylase deficiency 0.000 dominant HG002 HG002 chrX:155700716:T:C 1,.,. -1 -1 -1 -1 -1 -1 TMLHE;SPRY3 50_intron 31,.,. 0.225806,.,. TMLHE/intron/;SPRY3/non_coding/ Epsilon-trimethyllysine hydroxylase deficiency 0.000 dominant HG002 HG002 chrX:155700768:T:C 1,.,. -1 -1 -1 0.00220022 3 4 TMLHE;SPRY3 50_intron 31,.,. 0.225806,.,. TMLHE/intron/;SPRY3/non_coding/ Epsilon-trimethyllysine hydroxylase deficiency 0.000 dominant HG002 HG002 chrX:155700769:G:C 1,.,. -1 -1 -1 0.00110011 2 2 TMLHE;SPRY3 50_intron 31,.,. 0.225806,.,. TMLHE/intron/;SPRY3/non_coding/ Epsilon-trimethyllysine hydroxylase deficiency 0.000 dominant HG002 HG002 chrX:155700984:T:G 1,.,. -1 -1 -1 -1 -1 -1 TMLHE;SPRY3 50_intron 32,.,. 0.25,.,. TMLHE/intron/;SPRY3/non_coding/ Epsilon-trimethyllysine hydroxylase deficiency 0.000 dominant HG002 HG002 chrX:155701027:G:C 1,.,. -1 -1 -1 -1 -1 -1 TMLHE;SPRY3 50_intron 32,.,. 0.25,.,. TMLHE/intron/;SPRY3/non_coding/ Epsilon-trimethyllysine hydroxylase deficiency 0.000 recessive HG002 HG002 chrX:155701027:G:C 1,.,. -1 -1 -1 -1 -1 -1 TMLHE;SPRY3 50_intron 32,.,. 0.25,.,. TMLHE/intron/;SPRY3/non_coding/ Epsilon-trimethyllysine hydroxylase deficiency 0.000 recessive HG002 HG002 chrX:155715773:G:A 1,.,. 0.00239681 3 365 0.000759878 0 2 TMLHE;SPRY3 50_intron 33,.,. 0.515152,.,. TMLHE/intron/;SPRY3/non_coding/ Epsilon-trimethyllysine hydroxylase deficiency 0.000 recessive HG002 HG002 chrX:155718614:T:A 1,.,. 0.000367922 0 56 -1 -1 -1 TMLHE;SPRY3 50_intron 40,.,. 0.45,.,. TMLHE/intron/;SPRY3/non_coding/ Epsilon-trimethyllysine hydroxylase deficiency 0.000 recessive HG002 HG002 chrX:155735562:G:A 1,.,. 0.00302564 0 460 0.00341945 0 9 SPRY3 50_intron 45,.,. 0.511111,.,. SPRY3/non_coding/;SPRY3/intron/ recessive HG002 HG002 chrX:155779685:A:G 1,.,. 0.000341396 1 52 -1 -1 -1 SPRY3 36_3_prime_utr 41,.,. 0.414634,.,. SPRY3/3_prime_utr/ENST00000302805 recessive HG002 HG002 chrX:155790176:C:T 1,.,. 0.00245066 1 373 0.00113982 0 3 50,.,. 0.66,.,. recessive HG002 HG002 chrX:155794758:T:C 1,.,. 4.61012e-05 0 7 -1 -1 -1 50,.,. 0.64,.,. dominant HG002 HG002 chrX:155827824:C:T 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.462963,.,. recessive HG002 HG002 chrX:155827824:C:T 1,.,. -1 -1 -1 -1 -1 -1 54,.,. 0.462963,.,. recessive HG002 HG002 chrX:155833036:G:T 1,.,. 0.000249829 1 38 -1 -1 -1 60,.,. 0.616667,.,. recessive HG002 HG002 chrX:155854386:G:T 1,.,. 0.00245018 1 373 0.00113982 0 3 47,.,. 0.617021,.,. dominant HG002 HG002 chrX:155861618:CCT:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. recessive HG002 HG002 chrX:155861618:CCT:C 2,.,. -1 -1 -1 -1 -1 -1 41,.,. 1,.,. dominant HG002 HG002 chrX:155861623:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chrX:155861623:C:T 2,.,. -1 -1 -1 -1 -1 -1 40,.,. 1,.,. recessive HG002 HG002 chrX:155892044:TATG:T 1,.,. 0.00189792 1 289 0.00113982 0 3 VAMP7 50_intron 49,.,. 0.367347,.,. VAMP7/intron/;VAMP7/non_coding/ 0.000 recessive HG002 HG002 chrX:155892051:C:T 1,.,. 0.00312114 4 475 0.0018997 0 5 VAMP7 50_intron 49,.,. 0.367347,.,. VAMP7/intron/;VAMP7/non_coding/ 0.000 recessive HG002 HG002 chrX:155899199:G:GA 1,.,. 0.00053623 1 78 0.00113982 0 3 VAMP7 50_intron 30,.,. 0.666667,.,. VAMP7/intron/;VAMP7/non_coding/ 0.000 recessive HG002 HG002 chrX:155920972:C:T 1,.,. 0.00239762 1 365 0.00113982 0 3 VAMP7 50_intron 47,.,. 0.638298,.,. VAMP7/intron/;VAMP7/non_coding/ 0.000 recessive HG002 HG002 chrX:155931080:C:T 1,.,. 0.00254307 1 387 0.00113982 0 3 VAMP7 50_intron 40,.,. 0.625,.,. VAMP7/intron/;VAMP7/non_coding/ 0.000 dominant HG002 HG002 chrX:155958278:G:GGA 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chrX:155958278:G:GGA 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. dominant HG002 HG002 chrX:155958280:A:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chrX:155958280:A:G 2,.,. -1 -1 -1 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chrX:155960503:G:A 1,.,. 0.000256269 1 39 -1 -1 -1 28,.,. 0.571429,.,. dominant HG002 HG002 chrX:155966139:A:AAAC 1,.,. -1 -1 -1 -1 -1 -1 14,.,. 0.785714,.,. recessive HG002 HG002 chrX:155966139:A:AAAC 1,.,. -1 -1 -1 -1 -1 -1 14,.,. 0.785714,.,. dominant HG002 HG002 chrX:155966140:C:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. recessive HG002 HG002 chrX:155966140:C:T 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chrX:155978063:C:A 2,.,. 0.00520833 0 1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chrX:155978063:C:A 2,.,. 0.00520833 0 1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chrX:155978064:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. recessive HG002 HG002 chrX:155978064:A:G 2,.,. -1 -1 -1 -1 -1 -1 39,.,. 1,.,. dominant HG002 HG002 chrX:155978065:G:T 2,.,. 6.57384e-06 0 1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chrX:155978065:G:T 2,.,. 6.57384e-06 0 1 -1 -1 -1 38,.,. 1,.,. recessive HG002 HG002 chrX:155991579:C:T 1,.,. 0.000722911 1 105 0.000759878 0 2 46,.,. 0.586957,.,. recessive HG002 HG002 chrX:156009252:CTG:C 1,.,. -1 -1 -1 0.0212766 2 56 IL9R;AJ271736.1 50_intron 34,.,. 0.529412,.,. IL9R/intron/;AJ271736.1/non_coding/ dominant HG002 HG002 chrX:156015901:G:C 2,.,. -1 -1 -1 -1 -1 -1 AJ271736.1 53_non_coding 19,.,. 1,.,. AJ271736.1/non_coding/ recessive HG002 HG002 chrX:156015901:G:C 2,.,. -1 -1 -1 -1 -1 -1 AJ271736.1 53_non_coding 19,.,. 1,.,. AJ271736.1/non_coding/ dominant HG002 HG002 chrX:156015902:C:G 2,.,. -1 -1 -1 -1 -1 -1 AJ271736.1 53_non_coding 19,.,. 1,.,. AJ271736.1/non_coding/ recessive HG002 HG002 chrX:156015902:C:G 2,.,. -1 -1 -1 -1 -1 -1 AJ271736.1 53_non_coding 19,.,. 1,.,. AJ271736.1/non_coding/ dominant HG002 HG002 chrX:156015903:A:C 2,.,. -1 -1 -1 -1 -1 -1 AJ271736.1 53_non_coding 19,.,. 1,.,. AJ271736.1/non_coding/ recessive HG002 HG002 chrX:156015903:A:C 2,.,. -1 -1 -1 -1 -1 -1 AJ271736.1 53_non_coding 19,.,. 1,.,. AJ271736.1/non_coding/ recessive HG002 HG002 chrX:156020106:CGGGTCAGGGTTAGGGTCA:C 1,.,. 0.000184189 0 15 -1 -1 -1 AJ271736.1 53_non_coding 10,.,. 0.3,.,. AJ271736.1/non_coding/ dominant HG002 HG002 chrX:156020900:C:G 1,.,. -1 -1 -1 -1 -1 -1 AJ271736.1;WASH6P 53_non_coding 10,.,. 0.6,.,. AJ271736.1/non_coding/;WASH6P/non_coding/ recessive HG002 HG002 chrX:156020900:C:G 1,.,. -1 -1 -1 -1 -1 -1 AJ271736.1;WASH6P 53_non_coding 10,.,. 0.6,.,. AJ271736.1/non_coding/;WASH6P/non_coding/ recessive HG002 HG002 chrY:2963307:A:G 2,.,. -1 -1 -1 -1 -1 -1 ZFY 50_intron 16,.,. 1,.,. ZFY/intron/;ZFY/non_coding/ recessive HG002 HG002 chrY:3218226:A:C 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrY:3470871:T:A 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. dominant HG002 HG002 chrY:3538097:T:C 1,.,. 4.03096e-05 1 1 -1 -1 -1 19,.,. 0.210526,.,. dominant HG002 HG002 chrY:3538175:G:A 1,.,. 0.000124023 3 3 -1 -1 -1 20,.,. 0.2,.,. dominant HG002 HG002 chrY:3538580:T:C 1,.,. 8.13603e-05 2 2 -1 -1 -1 20,.,. 0.2,.,. dominant HG002 HG002 chrY:3538669:C:A 1,.,. 8.06029e-05 2 2 -1 -1 -1 20,.,. 0.2,.,. dominant HG002 HG002 chrY:3538793:T:A 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.210526,.,. dominant HG002 HG002 chrY:3539071:A:G 1,.,. 7.95007e-05 2 2 0.004914 4 4 18,.,. 0.222222,.,. dominant HG002 HG002 chrY:3539178:C:A 1,.,. 4.09299e-05 1 1 0.002457 2 2 18,.,. 0.222222,.,. dominant HG002 HG002 chrY:3539486:T:C 1,.,. 0.000122464 3 3 0.002457 2 2 19,.,. 0.210526,.,. dominant HG002 HG002 chrY:3539587:A:G 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.222222,.,. dominant HG002 HG002 chrY:3539640:A:C 1,.,. -1 -1 -1 -1 -1 -1 19,.,. 0.210526,.,. recessive HG002 HG002 chrY:5039711:G:A 2,.,. 0.000120678 4 4 -1 -1 -1 PCDH11Y 50_intron 16,.,. 1,.,. PCDH11Y/intron/ recessive HG002 HG002 chrY:5372864:CCCTTCCTT:C 2,.,. -1 -1 -1 -1 -1 -1 PCDH11Y 50_intron 9,.,. 1,.,. PCDH11Y/intron/ recessive HG002 HG002 chrY:5919234:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrY:6246226:T:C 1,.,. -1 -1 -1 -1 -1 -1 TSPY2 35_5_prime_utr 15,.,. 0.266667,.,. TSPY2/5_prime_utr/ENST00000429039;TSPY2/5_prime_utr/ENST00000320701 dominant HG002 HG002 chrY:6246261:C:T 1,.,. -1 -1 -1 -1 -1 -1 TSPY2 35_5_prime_utr 15,.,. 0.266667,.,. TSPY2/5_prime_utr/ENST00000429039;TSPY2/5_prime_utr/ENST00000320701 dominant HG002 HG002 chrY:6246305:G:T 1,.,. 0.000114804 4 4 -1 -1 -1 TSPY2 03_stop_gained 15,.,. 0.266667,.,. TSPY2/stop_gained/ENST00000320701;TSPY2/stop_gained/ENST00000383042;TSPY2/stop_gained/ENST00000429039 dominant HG002 HG002 chrY:6246332:G:T 1,.,. -1 -1 -1 -1 -1 -1 TSPY2 14_missense 15,.,. 0.266667,.,. TSPY2/missense/ENST00000320701;TSPY2/missense/ENST00000383042;TSPY2/missense/ENST00000429039 dominant HG002 HG002 chrY:6246371:A:G 1,.,. -1 -1 -1 -1 -1 -1 TSPY2 14_missense 15,.,. 0.266667,.,. TSPY2/missense/ENST00000320701;TSPY2/missense/ENST00000383042 dominant HG002 HG002 chrY:6246403:G:A 1,.,. -1 -1 -1 -1 -1 -1 TSPY2 30_synonymous 15,.,. 0.266667,.,. TSPY2/synonymous/ENST00000320701;TSPY2/synonymous/ENST00000383042 dominant HG002 HG002 chrY:6247322:T:C 1,.,. -1 -1 -1 -1 -1 -1 TSPY2 50_intron 14,.,. 0.285714,.,. TSPY2/intron/;TSPY2/non_coding/ dominant HG002 HG002 chrY:6247395:G:C 1,.,. -1 -1 -1 -1 -1 -1 TSPY2 14_missense 15,.,. 0.266667,.,. TSPY2/missense/ENST00000429039;TSPY2/missense/ENST00000320701;TSPY2/missense/ENST00000383042 recessive HG002 HG002 chrY:6274286:T:C 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chrY:6274290:A:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. dominant HG002 HG002 chrY:9055186:T:C 1,.,. -1 -1 -1 -1 -1 -1 8,.,. 0.375,.,. recessive HG002 HG002 chrY:9288443:G:A 2,.,. 0.000118656 4 4 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrY:9821965:C:T 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. dominant HG002 HG002 chrY:9917048:T:C 1,.,. 2.96939e-05 1 1 0.0036855 3 3 22,.,. 0.227273,.,. dominant HG002 HG002 chrY:9917184:G:T 1,.,. -1 -1 -1 -1 -1 -1 22,.,. 0.227273,.,. recessive HG002 HG002 chrY:10629513:G:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chrY:10754889:A:T 2,.,. -1 -1 -1 0.004914 4 4 23,.,. 1,.,. recessive HG002 HG002 chrY:10756777:A:T 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. recessive HG002 HG002 chrY:10788341:T:C 2,.,. -1 -1 -1 -1 -1 -1 12,.,. 1,.,. dominant HG002 HG002 chrY:10860535:A:G 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.235294,.,. dominant HG002 HG002 chrY:10860555:T:C 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.235294,.,. dominant HG002 HG002 chrY:10860557:A:C 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.235294,.,. dominant HG002 HG002 chrY:10860580:T:C 1,.,. -1 -1 -1 -1 -1 -1 17,.,. 0.235294,.,. dominant HG002 HG002 chrY:10894399:T:C 1,.,. -1 -1 -1 -1 -1 -1 6,.,. 0.5,.,. dominant HG002 HG002 chrY:11094838:G:A 1,.,. -1 -1 -1 0.002457 2 2 23,.,. 0.434783,.,. dominant HG002 HG002 chrY:11094884:C:T 1,.,. -1 -1 -1 0.002457 2 2 22,.,. 0.409091,.,. recessive HG002 HG002 chrY:11307739:C:G 2,.,. 0.000528053 4 4 -1 -1 -1 DUX4L16 53_non_coding 172,.,. 0.994186,.,. DUX4L16/non_coding/ recessive HG002 HG002 chrY:11308522:G:C 2,.,. -1 -1 -1 -1 -1 -1 180,.,. 0.994444,.,. recessive HG002 HG002 chrY:11314484:G:C 2,.,. -1 -1 -1 -1 -1 -1 371,.,. 0.983827,.,. recessive HG002 HG002 chrY:11314704:G:C 2,.,. -1 -1 -1 -1 -1 -1 387,.,. 0.997416,.,. recessive HG002 HG002 chrY:11315385:A:G 2,.,. -1 -1 -1 -1 -1 -1 DUX4L17 53_non_coding 368,.,. 0.980978,.,. DUX4L17/non_coding/ recessive HG002 HG002 chrY:11315657:A:C 2,.,. -1 -1 -1 -1 -1 -1 DUX4L17 53_non_coding 344,.,. 0.985465,.,. DUX4L17/non_coding/ recessive HG002 HG002 chrY:11315658:A:T 2,.,. -1 -1 -1 -1 -1 -1 DUX4L17 53_non_coding 409,.,. 0.98044,.,. DUX4L17/non_coding/ recessive HG002 HG002 chrY:11315714:T:A 2,.,. -1 -1 -1 -1 -1 -1 DUX4L17 53_non_coding 386,.,. 0.994819,.,. DUX4L17/non_coding/ recessive HG002 HG002 chrY:11315871:C:G 2,.,. -1 -1 -1 -1 -1 -1 DUX4L17 53_non_coding 389,.,. 0.992288,.,. DUX4L17/non_coding/ recessive HG002 HG002 chrY:11315881:T:G 2,.,. -1 -1 -1 -1 -1 -1 DUX4L17 53_non_coding 361,.,. 0.98892,.,. DUX4L17/non_coding/ recessive HG002 HG002 chrY:11315894:T:C 2,.,. -1 -1 -1 -1 -1 -1 DUX4L17 53_non_coding 400,.,. 0.99,.,. DUX4L17/non_coding/ recessive HG002 HG002 chrY:11315964:G:A 2,.,. -1 -1 -1 -1 -1 -1 DUX4L17 53_non_coding 418,.,. 0.997608,.,. DUX4L17/non_coding/ recessive HG002 HG002 chrY:11316584:T:G 2,.,. -1 -1 -1 -1 -1 -1 376,.,. 0.981383,.,. recessive HG002 HG002 chrY:11316658:G:C 2,.,. -1 -1 -1 -1 -1 -1 363,.,. 0.997245,.,. recessive HG002 HG002 chrY:11316698:T:C 2,.,. -1 -1 -1 -1 -1 -1 372,.,. 0.986559,.,. recessive HG002 HG002 chrY:11321325:G:T 2,.,. -1 -1 -1 -1 -1 -1 181,.,. 0.98895,.,. recessive HG002 HG002 chrY:11321867:C:T 2,.,. -1 -1 -1 -1 -1 -1 DUX4L18 53_non_coding 168,.,. 0.982143,.,. DUX4L18/non_coding/ recessive HG002 HG002 chrY:11322291:G:C 2,.,. -1 -1 -1 -1 -1 -1 DUX4L18 53_non_coding 169,.,. 0.982249,.,. DUX4L18/non_coding/ recessive HG002 HG002 chrY:11322834:T:G 2,.,. -1 -1 -1 -1 -1 -1 169,.,. 0.988166,.,. dominant HG002 HG002 chrY:11643164:G:A 1,.,. -1 -1 -1 0.0036855 3 3 41,.,. 0.536585,.,. recessive HG002 HG002 chrY:11654118:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrY:11654119:A:C 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrY:11654120:G:A 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrY:11811146:C:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrY:11824424:G:A 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrY:11840374:C:G 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrY:11858630:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrY:11981569:GTCTATCTA:G 2,.,. -1 -1 -1 0.002457 2 2 MXRA5Y 53_non_coding 22,.,. 1,.,. MXRA5Y/non_coding/ recessive HG002 HG002 chrY:12002944:G:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chrY:12516947:T:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrY:13117405:ACCTAGTTTTGT:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrY:13117417:A:G 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrY:13117948:A:G 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrY:13814729:C:A 2,.,. 0.000119175 4 4 -1 -1 -1 ANOS2P 53_non_coding 24,.,. 1,.,. ANOS2P/non_coding/ recessive HG002 HG002 chrY:13986034:G:C 2,.,. -1 -1 -1 -1 -1 -1 VCY 14_missense 15,.,. 1,.,. VCY/missense/ENST00000250825 Spermatogenic failure, Y-linked, 2 0.000 recessive HG002 HG002 chrY:14089428:A:G 2,.,. 8.95415e-05 3 3 -1 -1 -1 30,.,. 1,.,. recessive HG002 HG002 chrY:15165160:G:T 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrY:15210255:GAGGA:G 2,.,. -1 -1 -1 -1 -1 -1 8,.,. 1,.,. recessive HG002 HG002 chrY:15387005:G:T 2,.,. -1 -1 -1 -1 -1 -1 PUDPP1 53_non_coding 26,.,. 1,.,. PUDPP1/non_coding/ recessive HG002 HG002 chrY:15413246:T:C 2,.,. -1 -1 -1 -1 -1 -1 PUDPP1 53_non_coding 15,.,. 1,.,. PUDPP1/non_coding/ recessive HG002 HG002 chrY:15422450:A:T 2,.,. -1 -1 -1 -1 -1 -1 PUDPP1 53_non_coding 18,.,. 1,.,. PUDPP1/non_coding/ recessive HG002 HG002 chrY:15549080:T:C 2,.,. -1 -1 -1 -1 -1 -1 STSP1 53_non_coding 21,.,. 1,.,. STSP1/non_coding/ recessive HG002 HG002 chrY:15825629:G:A 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrY:15888370:TA:T 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. dominant HG002 HG002 chrY:15990685:T:C 1,.,. -1 -1 -1 -1 -1 -1 16,.,. 0.75,.,. recessive HG002 HG002 chrY:16563737:T:C 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrY:17015861:C:A 2,.,. -1 -1 -1 -1 -1 -1 14,.,. 1,.,. recessive HG002 HG002 chrY:17851954:A:G 2,.,. -1 -1 -1 -1 -1 -1 13,.,. 1,.,. recessive HG002 HG002 chrY:17882693:A:C 2,.,. -1 -1 -1 0.0036855 3 3 CDY6P 53_non_coding 30,.,. 1,.,. CDY6P/non_coding/ recessive HG002 HG002 chrY:17982507:G:A 2,.,. -1 -1 -1 0.004914 4 4 17,.,. 1,.,. recessive HG002 HG002 chrY:17982522:G:A 2,.,. -1 -1 -1 0.004914 4 4 17,.,. 1,.,. recessive HG002 HG002 chrY:18869678:T:A 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chrY:18888848:T:C 2,.,. 0.000135017 4 4 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrY:19122922:A:C 2,.,. 0.000117883 4 4 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrY:19206317:A:ATATGT 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrY:19206321:A:G 2,.,. -1 -1 -1 -1 -1 -1 18,.,. 1,.,. recessive HG002 HG002 chrY:19471898:G:C 2,.,. -1 -1 -1 -1 -1 -1 BCORP1 53_non_coding 13,.,. 1,.,. BCORP1/non_coding/ recessive HG002 HG002 chrY:19569897:T:A 2,.,. -1 -1 -1 -1 -1 -1 TXLNGY 53_non_coding 15,.,. 1,.,. TXLNGY/non_coding/ recessive HG002 HG002 chrY:19968217:G:T 2,.,. -1 -1 -1 -1 -1 -1 31,.,. 1,.,. recessive HG002 HG002 chrY:20107658:G:T 2,.,. -1 -1 -1 0.004914 4 4 29,.,. 1,.,. recessive HG002 HG002 chrY:20120010:T:G 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. dominant HG002 HG002 chrY:20152131:A:C 1,.,. -1 -1 -1 -1 -1 -1 13,.,. 0.384615,.,. recessive HG002 HG002 chrY:20153528:A:T 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrY:20153529:G:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. dominant HG002 HG002 chrY:20157304:C:T 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.277778,.,. dominant HG002 HG002 chrY:20157420:T:C 1,.,. -1 -1 -1 -1 -1 -1 18,.,. 0.277778,.,. recessive HG002 HG002 chrY:20168113:CAAGA:C 2,.,. -1 -1 -1 0.004914 4 4 30,.,. 1,.,. recessive HG002 HG002 chrY:20187452:G:T 2,.,. -1 -1 -1 -1 -1 -1 28,.,. 1,.,. recessive HG002 HG002 chrY:20193681:G:C 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrY:20260794:C:A 2,.,. -1 -1 -1 0.004914 4 4 25,.,. 1,.,. dominant HG002 HG002 chrY:20262810:C:A 1,.,. -1 -1 -1 -1 -1 -1 27,.,. 0.555556,.,. dominant HG002 HG002 chrY:20262873:G:A 1,.,. -1 -1 -1 -1 -1 -1 28,.,. 0.535714,.,. dominant HG002 HG002 chrY:20300774:T:G 1,.,. -1 -1 -1 -1 -1 -1 16,.,. 0.25,.,. recessive HG002 HG002 chrY:20368129:C:T 2,.,. -1 -1 -1 -1 -1 -1 19,.,. 1,.,. recessive HG002 HG002 chrY:20374673:T:A 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrY:20980058:G:C 2,.,. -1 -1 -1 -1 -1 -1 27,.,. 1,.,. dominant HG002 HG002 chrY:21008090:T:A 1,.,. -1 -1 -1 0.0036855 3 3 28,.,. 0.25,.,. dominant HG002 HG002 chrY:21008180:T:A 1,.,. -1 -1 -1 0.0036855 3 3 27,.,. 0.296296,.,. dominant HG002 HG002 chrY:21008229:A:G 1,.,. -1 -1 -1 0.0036855 3 3 29,.,. 0.275862,.,. dominant HG002 HG002 chrY:21008235:T:G 1,.,. -1 -1 -1 0.0036855 3 3 29,.,. 0.275862,.,. dominant HG002 HG002 chrY:21008236:G:A 1,.,. -1 -1 -1 0.0036855 3 3 28,.,. 0.25,.,. dominant HG002 HG002 chrY:21008509:C:T 1,.,. -1 -1 -1 0.002457 2 2 28,.,. 0.321429,.,. dominant HG002 HG002 chrY:21008669:T:C 1,.,. -1 -1 -1 0.0036855 3 3 28,.,. 0.285714,.,. dominant HG002 HG002 chrY:21008671:A:C 1,.,. -1 -1 -1 0.0036855 3 3 29,.,. 0.275862,.,. dominant HG002 HG002 chrY:21008686:A:T 1,.,. -1 -1 -1 0.0036855 3 3 29,.,. 0.310345,.,. dominant HG002 HG002 chrY:21008693:T:A 1,.,. -1 -1 -1 0.0036855 3 3 29,.,. 0.310345,.,. dominant HG002 HG002 chrY:21014913:AGAAGGAAGGAAG:A 1,.,. -1 -1 -1 0.004914 4 4 21,.,. 0.428571,.,. recessive HG002 HG002 chrY:21086965:A:G 2,.,. -1 -1 -1 -1 -1 -1 15,.,. 1,.,. recessive HG002 HG002 chrY:21115146:C:T 2,.,. -1 -1 -1 -1 -1 -1 25,.,. 1,.,. recessive HG002 HG002 chrY:21221387:A:C 2,.,. -1 -1 -1 -1 -1 -1 NEFLP1 53_non_coding 20,.,. 1,.,. NEFLP1/non_coding/ recessive HG002 HG002 chrY:21239764:G:A 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrY:21335116:T:C 2,.,. -1 -1 -1 -1 -1 -1 21,.,. 1,.,. recessive HG002 HG002 chrY:21411959:A:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrY:21617528:C:T 2,.,. -1 -1 -1 -1 -1 -1 23,.,. 1,.,. recessive HG002 HG002 chrY:22240844:T:C 2,.,. -1 -1 -1 -1 -1 -1 16,.,. 1,.,. recessive HG002 HG002 chrY:23089188:C:G 2,.,. -1 -1 -1 0.004914 4 4 33,.,. 1,.,. recessive HG002 HG002 chrY:23134286:A:G 2,.,. -1 -1 -1 -1 -1 -1 DAZ1 50_intron 32,.,. 1,.,. DAZ1/intron/;DAZ1/non_coding/ Spermatogenic failure, Y-linked, 2 0.000 recessive HG002 HG002 chrY:24594438:A:ATG 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrY:24594441:G:A 2,.,. -1 -1 -1 -1 -1 -1 17,.,. 1,.,. recessive HG002 HG002 chrY:26310974:C:T 2,.,. -1 -1 -1 -1 -1 -1 PPP1R12BP1 53_non_coding 16,.,. 1,.,. PPP1R12BP1/non_coding/ recessive HG002 HG002 chrY:26470473:G:A 2,.,. -1 -1 -1 -1 -1 -1 20,.,. 1,.,. recessive HG002 HG002 chrY:26488841:T:C 2,.,. -1 -1 -1 -1 -1 -1 22,.,. 1,.,. recessive HG002 HG002 chrY:26658332:A:G 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chrY:26658344:A:G 2,.,. -1 -1 -1 -1 -1 -1 85,.,. 1,.,. recessive HG002 HG002 chrY:26658356:C:G 2,.,. -1 -1 -1 -1 -1 -1 87,.,. 1,.,. recessive HG002 HG002 chrY:26658357:A:G 2,.,. -1 -1 -1 -1 -1 -1 88,.,. 1,.,. recessive HG002 HG002 chrY:26658385:T:G 2,.,. -1 -1 -1 -1 -1 -1 144,.,. 1,.,. recessive HG002 HG002 chrY:26658405:T:C 2,.,. -1 -1 -1 -1 -1 -1 139,.,. 1,.,. dominant HG002 HG002 chrY:56828489:G:A 1,.,. -1 -1 -1 -1 -1 -1 87,.,. 0.333333,.,. dominant HG002 HG002 chrY:56828552:T:G 1,.,. -1 -1 -1 0.002457 2 2 76,.,. 0.223684,.,. dominant HG002 HG002 chrY:56828564:G:A 1,.,. -1 -1 -1 -1 -1 -1 77,.,. 0.376623,.,. dominant HG002 HG002 chrY:56828736:GTCCAT:G 1,.,. -1 -1 -1 0.002457 2 2 116,.,. 0.344828,.,. dominant HG002 HG002 chrY:56837693:C:A 1,.,. -1 -1 -1 -1 -1 -1 121,.,. 0.22314,.,. dominant HG002 HG002 chrY:56839909:C:T 1,.,. -1 -1 -1 -1 -1 -1 40,.,. 0.225,.,. dominant HG002 HG002 chrY:56840554:C:T 1,.,. -1 -1 -1 -1 -1 -1 38,.,. 0.289474,.,. dominant HG002 HG002 chrY:56844473:C:T 1,.,. -1 -1 -1 0.004914 4 4 38,.,. 0.342105,.,. dominant HG002 HG002 chrY:56845136:C:G 1,.,. -1 -1 -1 0.0036855 3 3 63,.,. 0.380952,.,. dominant HG002 HG002 chrY:56846136:G:A 1,.,. -1 -1 -1 0.0036855 3 3 71,.,. 0.464789,.,. dominant HG002 HG002 chrY:56846336:G:C 1,.,. -1 -1 -1 -1 -1 -1 74,.,. 0.364865,.,. dominant HG002 HG002 chrY:56847119:C:A 1,.,. -1 -1 -1 0.002457 2 2 76,.,. 0.578947,.,. dominant HG002 HG002 chrY:56847187:A:G 1,.,. -1 -1 -1 0.002457 2 2 77,.,. 0.493506,.,. dominant HG002 HG002 chrY:56847189:G:T 1,.,. -1 -1 -1 0.0036855 3 3 77,.,. 0.493506,.,. dominant HG002 HG002 chrY:56864388:A:G 1,.,. -1 -1 -1 -1 -1 -1 275,.,. 0.352727,.,. dominant HG002 HG002 chrY:56864673:C:A 1,.,. -1 -1 -1 -1 -1 -1 269,.,. 0.33829,.,. dominant HG002 HG002 chrY:56867081:C:G 1,.,. -1 -1 -1 0.002457 2 2 279,.,. 0.340502,.,. dominant HG002 HG002 chrY:56867684:G:A 1,.,. -1 -1 -1 -1 -1 -1 268,.,. 0.328358,.,. dominant HG002 HG002 chrY:56867969:A:G 1,.,. -1 -1 -1 0.0036855 3 3 270,.,. 0.362963,.,. dominant HG002 HG002 chrY:56868196:A:C 1,.,. -1 -1 -1 -1 -1 -1 264,.,. 0.329545,.,. dominant HG002 HG002 chrY:56868343:C:T 1,.,. -1 -1 -1 0.002457 2 2 266,.,. 0.338346,.,. dominant HG002 HG002 chrY:56868389:A:G 1,.,. -1 -1 -1 -1 -1 -1 264,.,. 0.363636,.,. dominant HG002 HG002 chrY:56868535:AAT:A 1,.,. -1 -1 -1 -1 -1 -1 268,.,. 0.33209,.,. dominant HG002 HG002 chrY:56868688:T:C 1,.,. -1 -1 -1 -1 -1 -1 268,.,. 0.358209,.,. dominant HG002 HG002 chrY:56869715:T:C 1,.,. -1 -1 -1 -1 -1 -1 266,.,. 0.323308,.,. dominant HG002 HG002 chrY:56869755:C:T 1,.,. -1 -1 -1 -1 -1 -1 265,.,. 0.320755,.,. dominant HG002 HG002 chrY:56869920:C:T 1,.,. -1 -1 -1 0.002457 2 2 264,.,. 0.32197,.,. dominant HG002 HG002 chrY:56871922:G:A 1,.,. -1 -1 -1 -1 -1 -1 258,.,. 0.325581,.,. dominant HG002 HG002 chrY:56873472:A:C 1,.,. -1 -1 -1 0.002457 2 2 235,.,. 0.33617,.,. dominant HG002 HG002 chrY:56873495:A:AG 1,.,. -1 -1 -1 -1 -1 -1 231,.,. 0.311688,.,. dominant HG002 HG002 chrY:56874183:C:T 1,.,. -1 -1 -1 -1 -1 -1 234,.,. 0.32906,.,. dominant HG002 HG002 chrY:56874385:TA:T 1,.,. -1 -1 -1 0.004914 4 4 239,.,. 0.322176,.,. dominant HG002 HG002 chrY:56874439:A:G 1,.,. -1 -1 -1 0.004914 4 4 237,.,. 0.329114,.,. recessive HG002 HG002 chrM:6800:A:G 2,.,. -1 -1 -1 -1 -1 -1 MT-CO1 30_synonymous 273,.,. 1,.,. MT-CO1/synonymous/ENST00000361624 Hereditary hearing loss and deafness;Mitochondrial non-syndromic sensorineural hearing loss;MELAS syndrome 0.000 recessive HG002 HG002 chrM:15175:C:T 2,.,. -1 -1 -1 0.00140154 2 2 MT-CYB 30_synonymous 198,.,. 1,.,. MT-CYB/synonymous/ENST00000361789 Leber optic atrophy;MELAS syndrome 0.000