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| author | elixir-it |
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| date | Tue, 09 Jun 2020 15:57:22 +0000 |
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CHR start gene ref alt AC 1000g2015aug_all CADD_raw CLNDISDB CLNDN CLNSIG ExAC_NFE ExonicFunc.refGene Func.refGene MetaSVM_pred esp6500siv2_ea gnomAD_exome_NFE gnomAD_genome_NFE VINYL_score 10 18429624 CACNB2 C A 11 0.0301518 . MedGen:CN169374 not_specified Benign 0.0474 . UTR5 . 0.0316 0.0372 0.0392 -2.5 10 18429627 CACNB2 C T 1 0.000199681 . . . . 4.472e-05 . UTR5 . . 1.32e-05 . 2.5 10 18429839 CACNB2 C T 1 0.000399361 . . . . . . UTR5 . . . 0.0020 0 10 18430167 CACNB2 G C 9 0.00798722 . . . . 0.0366 . intronic . 0.0274 0.0172 0.0139 -2.5 10 18430169 CACNB2 G T 1 0.0091853 . . . . 0 . intronic . 0.0006 0.0001 0 0 10 18430220 CACNB2 G A 34 0.107628 . . . . . . intronic . . . 0.1135 -2.5 10 18439747 CACNB2 C T 31 0.0970447 . . . . . . intronic . . . 0.1119 -2.5 10 18439784 CACNB2 CTTTTTTT C 7 0.0900559 . MedGen:C2678477,OMIM:611876 Brugada_syndrome_4 Likely_benign 0.0021 . intronic . . . . -2.5 10 18439900 CACNB2 G A 1 0.000599042 6.628 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0015 nonsynonymous_SNV exonic D 0.0009 0.0014 0.0012 4 10 18439926 CACNB2 T C 27 0.0632987 . . . . 0.1292 . intronic . 0.1213 0.1275 0.1093 -2.5 10 18439993 CACNB2 A C 3 0.00179712 . . . . . . intronic . . . 0.0055 0 10 18691018 CACNB2 G A 116 0.391973 . . . . 0.5070 . intronic . 0.5115 0.5076 0.5052 -2.5 10 18691019 CACNB2 C A 2 0.00159744 . . . . 0.0098 . intronic . 0.0092 0.0094 0.0073 0 10 18787308 CACNB2 C T 1 0.000199681 8.208 . . . 1.499e-05 nonsynonymous_SNV exonic D . 1.791e-05 . 6.5 10 18787448 CACNB2 C G 1 0.0792732 . . . . 0.0030 . intronic . 0.0030 0.0033 0.0031 -2.5 10 18787485 CACNB2 G A 2 0.000798722 . . . . . . intronic . . . 0 0 10 18789724 CACNB2 T G 79 0.229832 . MedGen:C2678477,OMIM:611876|MedGen:CN169374 Brugada_syndrome_4|not_specified Benign 0.3240 . intronic . 0.3157 0.3230 0.3179 -2.5 10 18789924 CACNB2 C G 1 0.000998403 . . . . 0.0004 . intronic . 0.0007 0.0006 0.0006 0 10 18795351 CACNB2 G T 1 0.000199681 . . . . 0 . intronic . . 0 . 2.5 10 18795447 CACNB2 G C 2 0.00179712 2.683 MedGen:C2678477,OMIM:611876|MedGen:C3150852,OMIM:613601|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome_4|Early_repolarization_associated_with_ventricular_fibrillation|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic T 0.0012 0.0014 0.0009 2 10 18795555 CACNB2 G A 1 0.000199681 . . . . . . intronic . . . 0.0038 0 10 18795596 CACNB2 G A 82 0.503395 . . . . . . intronic . . . 0.3757 3.5 10 18803338 CACNB2 A G 4 0.014377 . . . . 0.0720 . intronic\x3bintronic . 0.0767 0.0752 0.0773 -2.5 10 18804094 CACNB2 T C 86 0.409545 . . . . . . intronic . . . 0.3659 3.5 10 18807246 CACNB2 G T 1 0.000199681 . . . . . . intronic . . . . 2.5 10 18816565 CACNB2 G A 1 0.00359425 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|Brugada_syndrome_4|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0112 synonymous_SNV exonic . 0.0124 0.0116 0.0112 -2.5 10 18816633 CACNB2 C T 27 0.239417 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign 0.1597 . intronic . 0.1603 0.1604 0.1784 -2.5 10 18822993 CACNB2 C T 1 0.000199681 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance 0.0003 . intronic . 0.0005 0.0003 0.0002 0 10 18825201 CACNB2 T G 4 0.0103834 . . . . . . intronic . . . . -2.5 10 18825202 CACNB2 TGG GGG,T 4 0.607827 . . . . . . intronic . . . 0.2463 -2.5 10 18825203 CACNB2 G T 12 0.0642971 . . . . . . intronic . . . 0.0119 -2.5 10 18825204 CACNB2 G T 12 0.0642971 . . . . . . intronic . . . . -2.5 10 18827336 CACNB2 T C 1 0.000199681 . . . . 1.531e-05 . intronic . . 3.632e-05 6.674e-05 2.5 10 18828191 CACNB2 C T 2 0.00279553 2.546 MedGen:C2678477,OMIM:611876|MedGen:CN230736 Brugada_syndrome_4|Cardiovascular_phenotype Benign/Likely_benign 0.0063 synonymous_SNV exonic . 0.0083 0.0076 0.0084 0 10 18828230 CACNB2 T C 2 0.000998403 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0016 synonymous_SNV exonic . 0.0024 0.0017 0.0015 0 10 18828371 CACNB2 C T 26 0.23722 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1593 synonymous_SNV exonic . 0.1615 0.1600 0.1784 -2.5 10 18828455 CACNB2 C T 1 0.00778754 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0002 synonymous_SNV exonic . 0.0002 9.858e-05 6.68e-05 0 10 18828486 CACNB2 C G 1 0.00439297 4.555 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0145 nonsynonymous_SNV exonic D 0.0170 0.0160 0.0161 -0.5 10 18828561 CACNB2 A G 1 0.000199681 3.389 MedGen:CN169374 not_specified Uncertain_significance 1.509e-05 nonsynonymous_SNV exonic D . 8.972e-06 . 4.5 10 18828635 CACNB2 T G 53 0.0970447 2.791 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1826 nonsynonymous_SNV exonic T 0.1729 0.1809 0.1766 -0.5 10 18828645 CACNB2 C T 1 0.000998403 6.542 MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 3.083e-05 nonsynonymous_SNV exonic D . 1.86e-05 0 4 10 18828663 CACNB2 G T 173 0.774361 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374 Brugada_syndrome|Brugada_syndrome_4|not_specified Benign/Likely_benign 0.7877 . UTR3 . . 0.7836 0.7942 0.5 10 18828670 CACNB2 T C 47 0.0756789 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Likely_benign 0.2713 . UTR3 . . 0.0916 0.1957 -2.5 10 21074724 NEBL T C 12 0.0666933 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0737 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.0762 0.0734 0.0776 1.5 10 21076080 NEBL A C 1 0.000199681 . . . . 5.296e-05 . intronic . . 7.128e-05 . 6.5 10 21076100 NEBL C A 12 0.221845 . . . . 0.0298 . intronic . 0.0238 0.0213 0.0177 1.5 10 21076285 NEBL C G 22 0.0251597 . . . . 0.0774 . intronic . 0.0705 0.0757 0.0668 1.5 10 21076307 NEBL C T 64 0.299521 . . . . . . intronic . . . 0.3437 1.5 10 21097556 NEBL G A 1 0.000199681 14.964 MedGen:CN169374 not_specified Uncertain_significance 1.504e-05 stopgain exonic . 0.0001 2.696e-05 6.661e-05 11.5 10 21098878 NEBL G A 17 0.0834665 . . . . 0.0163 . intronic . . 0.0138 0.0017 1.5 10 21098879 NEBL G A 43 0.226637 . . . . . . intronic . . . . 1.5 10 21101734 NEBL T C 2 0.00139776 -0.155 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign/Likely_benign 0.0016 nonsynonymous_SNV exonic T 0.0019 0.0018 0.0019 7.25 10 21104492 NEBL C T 2 0.000798722 . . . . . . intronic . . . 0.0006 4 10 21104694 NEBL A T 90 0.558906 . . . . 0.3861 . intronic . 0.3794 0.3858 0.3644 1.5 10 21108377 NEBL C T 57 0.183706 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2958 synonymous_SNV exonic . 0.2952 0.2986 0.3057 1.5 10 21112068 NEBL G T 1 0.00159744 . . . . . . intronic . . . 0.0053 4 10 21112111 NEBL A T 55 0.302117 . . . . 0.3146 . intronic . 0.2187 0.2795 0.2738 1.5 10 21112137 NEBL A T 11 0.124601 2.904 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0231 nonsynonymous_SNV exonic T 0.0224 0.0216 0.0187 3.5 10 21112258 NEBL A C 1 0.00459265 . . . . 4.939e-05 . intronic . . 6.493e-05 6.668e-05 4 10 21115332 NEBL T C 91 0.558307 . . . . 0.3875 . intronic . 0.3815 0.3874 0.3664 1.5 10 21115347 NEBL A G 4 0.00559105 . . . . 0.0126 . intronic . 0.0131 0.0121 0.0096 1.5 10 21115491 NEBL G T 1 0.000199681 . . . . 1.526e-05 . intronic . . 3.646e-05 0.0001 6.5 10 21117573 NEBL T A 1 0.000199681 . . . . . . intronic . . . . 6.5 10 21120116 NEBL A G 74 0.46905 . MedGen:CN169374 not_specified Benign 0.3503 . intronic . 0.3458 0.3524 0.3394 1.5 10 21129588 NEBL T C 19 0.0449281 . . . . . . intronic . . . 0.0743 1.5 10 21134282 NEBL C G 19 0.0385383 5.403 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0832 nonsynonymous_SNV exonic T 0.0828 0.0808 0.0742 3.5 10 21139389 NEBL T C 19 0.038738 1.032 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0833 nonsynonymous_SNV exonic T 0.0834 0.0811 0.0743 3.5 10 21141398 NEBL G A 5 0.0119808 . . . . . . intronic . . . 0.0428 1.5 10 21141429 NEBL G A 1 0.000199681 . . . . 0.0011 . intronic . 0.0014 0.0012 0.0006 4 10 21141440 NEBL AG A 53 0.252796 . . . . 0.2575 . intronic . 0.2555 0.2637 0.2586 1.5 10 21141469 NEBL T C 214 0.952476 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.9993 . intronic . 0.9994 0.9994 0.9997 1.5 10 21147144 NEBL G A 2 0.0543131 . . . . 0.0073 . intronic . 0.0052 0.0064 0.0065 1.5 10 21148584 NEBL C A 141 0.502995 . . . . . . intronic . . . 0.6573 1.5 10 21157673 NEBL C T 1 0.00139776 2.566 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity 0.0031 nonsynonymous_SNV exonic T 0.0022 0.0029 0.0023 8.5 10 21157763 NEBL CAA CA,C 1 0.102835 . . . . . . intronic . . . 0.0074 1.5 10 21157774 NEBL AAAAT A 1 0.0517173 . . . . . . intronic . . . 0.0014 1.5 10 21158728 NEBL C T 1 0.000399361 1.228 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004 Primary_dilated_cardiomyopathy Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0002 0.0002 8.5 10 21176945 NEBL G A 196 0.886981 . . . . . . intronic . . . 0.9243 1.5 10 21177128 NEBL G C 1 0.000599042 9.147 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374 Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity 0.0021 stopgain exonic . 0.0017 0.0023 0.0027 11.5 10 21177143 NEBL GA GAA,G 1 0.0111821 . . . . 0.0012 . intronic . . 0.0007 0.0008 1.5 10 21177156 NEBL GA G 141 0.540535 . . . . 0.6507 . intronic . 0.6444 0.6390 0.6549 1.5 10 21178948 NEBL A T 1 0.0181709 . . . . . . intronic . . . 0.0003 1.5 10 21185821 NEBL A C 214 0.923522 . . . . . . intronic . . . 0.9958 1.5 10 21185931 NEBL A G 1 0.00119808 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign 0.0013 synonymous_SNV exonic . 0.0008 0.0015 0.0015 4.625 10 21185974 NEBL G A 1 0.000199681 . . . . . . intronic\x3bintronic . . . . 6.5 10 21250698 NEBL T C 1 0.000199681 2.461 . . . . nonsynonymous_SNV exonic T . . . 8.5 10 21309211 NEBL C T 5 0.00539137 . . . . . . intronic . . . 0.0166 1.5 10 21461232 NEBL G A 30 0.230232 . . . . . . intronic . . . 0.1556 1.5 10 21461237 NEBL T A 1 0.000199681 . . . . . . intronic . . . . 6.5 10 21461410 NEBL G GA 53 0.353634 . MedGen:CN169374 not_specified not_provided 0.2116 . intronic . . 0.2908 0.2007 1.5 10 21462769 NEBL G A 3 0.0163738 . MedGen:CN169374 not_specified Benign 0.0044 . UTR5 . 0.0052 0.0047 0.0033 1.5 10 21462878 NEBL G A 3 0.0163738 . . . . . . UTR5 . . . 0.0033 1.5 10 67726514 CTNNA3 A C 56 0.352636 . MedGen:CN169374 not_specified Benign 0.3036 . intronic . 0.3110 0.3028 0.3127 -2.5 10 67748412 CTNNA3 G A 1 0.000199681 . . . . . . intronic . . . . 2.5 10 68040240 CTNNA3 G T 4 0.0690895 . MedGen:C3810138,OMIM:615616|MedGen:CN169374 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13|not_specified Benign 0.0210 synonymous_SNV exonic . 0.0205 0.0181 0.0161 -2.5 10 68040325 CTNNA3 C T 80 0.485024 0.202 . . . 0.3747 nonsynonymous_SNV exonic T 0.3621 0.3655 0.3892 -0.5 10 68139038 CTNNA3 C T 1 0.000199681 3.955 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0002 6.661e-05 4.5 10 68139039 CTNNA3 G A 1 0.00499201 4.125 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign 0.0165 nonsynonymous_SNV exonic T 0.0151 0.0133 0.0139 -0.5 10 68139142 CTNNA3 G A 39 0.0940495 . . . . 0.1785 . intronic . 0.1845 0.1778 0.1759 -2.5 10 68381592 CTNNA3 T C 3 0.00239617 . . . . 0.0041 . intronic . 0.0042 0.0037 0.0038 0 10 68381615 CTNNA3 A T 1 0.000199681 . . . . . . intronic . . . . 2.5 10 68535233 CTNNA3 A G 1 0.000199681 2.979 . . . 1.501e-05 nonsynonymous_SNV exonic T . 9.013e-06 . 4.5 10 68979342 CTNNA3 A T 1 0.000199681 . . . . . . intronic . . . . 2.5 10 68979343 CTNNA3 C G 14 0.187899 . . . . 0.1136 . intronic . 0.1072 0.1134 0.1160 -2.5 10 68979636 CTNNA3 G A 1 0.000798722 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign 0.0023 . intronic . 0.0020 0.0026 0.0022 0 10 69281585 CTNNA3 A C 18 0.187101 . . . . 0.1131 . intronic . 0.1113 0.1108 0.1357 -2.5 10 69281701 CTNNA3 A T 7 0.0113818 2.461 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign 0.0252 nonsynonymous_SNV exonic T 0.0253 0.0247 0.0270 -0.5 10 69281732 CTNNA3 A G 15 0.0593051 . MedGen:CN169374 not_specified Benign 0.0535 . intronic . 0.0592 0.0553 0.0539 -2.5 10 69299192 CTNNA3 C T 5 0.0179712 . . . . . . intronic . . . 0.0648 -2.5 10 69299372 CTNNA3 T G 4 0.0147764 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign 0.0183 synonymous_SNV exonic . 0.0226 0.0199 0.0176 -2.5 10 69299446 CTNNA3 T A 24 0.195487 . MedGen:CN169374 not_specified Benign 0.1056 . intronic . 0.1024 0.1047 0.0960 -2.5 10 69366602 CTNNA3 T C 58 0.529952 . MedGen:CN169374 not_specified Benign 0.2901 . intronic . 0.2893 0.2871 0.2905 -2.5 10 69407239 CTNNA3 G A 1 0.000399361 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign 0.0027 synonymous_SNV exonic . 0.0035 0.0029 0.0021 0 10 69407254 CTNNA3 T A 1 0.000199681 . . . . 0.0001 synonymous_SNV exonic . 0.0002 0.0002 6.665e-05 2.5 10 69882040 MYPN A G 1 0.000199681 5.735 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype Uncertain_significance 0.0003 nonsynonymous_SNV exonic D 0.0002 0.0002 0.0003 10.5 10 69902919 MYPN T C 4 0.114217 . . . . 0.0455 . intronic . 0.0477 0.0475 0.0474 1.5 10 69905300 MYPN G A 28 0.295927 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign 0.0783 . intronic . 0.0807 0.0778 0.0747 2.125 10 69905411 MYPN T C 1 0.000599042 . . . . . . intronic . . . 0.0003 4 10 69908063 MYPN A T 6 0.0577077 . . . . 0.0154 . intronic . 0.0126 0.0154 0.0169 1.5 10 69908157 MYPN T C 6 0.120607 0.535 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0155 nonsynonymous_SNV exonic T 0.0147 0.0160 0.0178 4.125 10 69908241 MYPN G A 22 0.121605 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign 0.0618 . intronic . 0.0643 0.0608 0.0557 2.125 10 69909756 MYPN T C 4 0.0946486 . . . . 0.0321 . intronic . 0.0344 0.0341 0.0327 1.5 10 69909802 MYPN G A 14 0.0842652 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.0880 synonymous_SNV exonic . 0.0826 0.0854 0.0795 1.5 10 69909844 MYPN C A 1 0.00199681 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0010 synonymous_SNV exonic . 0.0008 0.0007 0.0006 5.25 10 69909899 MYPN G A 15 0.14996 . . . . 0.0893 . intronic . 0.0826 0.0860 0.0803 1.5 10 69918442 MYPN CACTT C 4 0.0379393 . . . . . . intronic . . . 0.0168 1.5 10 69925596 MYPN G C 1 0.00199681 . MedGen:C3714995,OMIM:615248 Dilated_cardiomyopathy_1KK Benign 0.0119 . intronic . 0.0095 0.0116 0.0118 2.125 10 69926097 MYPN T C 140 0.482628 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.6868 synonymous_SNV exonic . 0.6960 0.6904 0.7102 1.5 10 69926319 MYPN C A 49 0.116613 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.1679 synonymous_SNV exonic . 0.1735 0.1614 0.1621 1.5 10 69926325 MYPN C T 53 0.157748 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.1823 synonymous_SNV exonic . 0.1866 0.1760 0.1790 1.5 10 69926334 MYPN C G 87 0.316494 0.756 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.5038 nonsynonymous_SNV exonic T 0.5095 0.5137 0.5306 3.5 10 69933921 MYPN G A 85 0.335863 0.657 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.4801 nonsynonymous_SNV exonic T 0.48 0.4878 0.5016 3.5 10 69933969 MYPN G A 85 0.32508 1.882 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.4795 nonsynonymous_SNV exonic T 0.4798 0.4873 0.5011 3.5 10 69934012 MYPN C A 4 0.0429313 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0144 synonymous_SNV exonic . 0.0123 0.0143 0.0164 2.125 10 69934258 MYPN C G 108 0.471446 2.029 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.5520 nonsynonymous_SNV exonic T 0.5509 0.5577 0.5682 3.5 10 69934259 MYPN G A 4 0.0103834 2.875 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0278 nonsynonymous_SNV exonic T 0.035 0.0292 0.0245 4.125 10 69934467 MYPN A G 164 0.817093 . . . . . . intronic . . . 0.8187 1.5 10 69935059 MYPN A G 139 0.547524 . . . . 0.7115 . intronic . 0.7103 0.7115 0.7219 1.5 10 69935062 MYPN T G 1 0.00519169 . . . . 0.0021 . intronic . . 0.0011 . 4 10 69935235 MYPN T C 214 0.982428 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign 0.9996 . intronic . 0.9990 0.9997 0.9997 2.125 10 69948844 MYPN T C 214 0.984625 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.9997 synonymous_SNV exonic . 0.9994 0.9999 0.9998 1.5 10 69948892 MYPN G C 2 0.0141773 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign 0.0024 . intronic . 0.0019 0.0022 0.0020 2.125 10 69954090 MYPN A G 4 0.00678914 . . . . 0.0215 . intronic . 0.0199 0.0201 0.0233 1.5 10 69954290 MYPN G A 85 0.35603 . . . . 0.4839 . intronic . 0.4774 0.4878 0.5009 1.5 10 69954301 MYPN C T 42 0.117812 . . . . 0.1605 . intronic . 0.1633 0.1512 0.1518 7.5 10 69955140 MYPN T A 131 0.48143 . . . . . . intronic . . . 0.6764 1.5 10 69957279 MYPN T G 1 0.000599042 . . . . 0.0001 . intronic . 0.0002 0.0001 6.761e-05 4 10 69959097 MYPN G T 145 0.538139 . . . . 0.7449 . intronic . 0.7473 0.7461 0.7554 1.5 10 69959174 MYPN C T 2 0.00259585 5.849 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN169882|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1KK|not_specified|Familial_hypertrophic_cardiomyopathy_22|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0033 nonsynonymous_SNV exonic T 0.0024 0.0027 0.0022 11 10 69959242 MYPN C A 85 0.340256 6.536 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.4806 nonsynonymous_SNV exonic T 0.4786 0.4879 0.5020 4.125 10 69959281 MYPN G C 1 0.000199681 6.922 . . . . nonsynonymous_SNV exonic D . . . 10.5 10 69959345 MYPN GCTGGGA G 85 0.358227 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C3714995,OMIM:615248|MedGen:CN169374 Cardiomyopathy|Dilated_cardiomyopathy_1KK|not_specified Benign 0.4708 . intronic . 0.4553 0.4842 0.4950 2.125 10 69959397 MYPN G A 85 0.358227 . . . . . . intronic . . . 0.5019 1.5 10 69961805 MYPN G A 3 0.00678914 . . . . . . intronic . . . 0.0144 1.5 10 69966602 MYPN G A 2 0.000399361 . . . . 4.496e-05 synonymous_SNV exonic . . 5.38e-05 0.0001 6.5 10 69969986 MYPN C T 77 0.285743 . . . . . . intronic . . . 0.3131 1.5 10 69969987 MYPN G A 2 0.00898562 . . . . . . intronic . . . 0.0021 4 10 75834538 VCL C T 1 0.000599042 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0011 synonymous_SNV exonic . 0.0010 0.0014 0.0013 5.25 10 75842152 VCL G A 71 0.511182 . . . . . . intronic . . . 0.3736 1.5 10 75843100 VCL T A 108 0.780751 . MedGen:CN169374 not_specified Benign 0.5331 . intronic . 0.5227 0.5322 0.5449 1.5 10 75849921 VCL T C 1 0.00199681 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype Benign 0.0062 synonymous_SNV exonic . 0.0056 0.0062 0.0047 4.625 10 75849991 VCL C A 1 0.0249601 . . . . 0.0043 . intronic . 0.0035 0.0039 0.0035 1.5 10 75855541 VCL C T 1 0.00319489 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0028 synonymous_SNV exonic . 0.0015 0.0022 0.0022 6.5 10 75863750 VCL C T 167 0.500998 . . . . . . intronic . . . 0.7179 1.5 10 75865065 VCL G A 132 0.324681 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.5852 synonymous_SNV exonic . 0.5895 0.5798 0.5824 1.5 10 75865095 VCL A G 7 0.0365415 . MedGen:CN230736 Cardiovascular_phenotype Likely_benign 0 synonymous_SNV exonic . . 9.001e-06 0 1.5 10 75865159 VCL C T 16 0.0157748 . . . . 0.0575 . intronic . 0.0610 0.0553 0.0535 1.5 10 75866929 VCL C A 133 0.400958 . . . . . . intronic . . . 0.5877 4.5 10 75871735 VCL C G 170 0.623003 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7428 synonymous_SNV exonic . 0.7521 0.7412 0.7447 1.5 10 75873892 VCL C T 133 0.400958 . . . . 0.5913 . intronic . 0.5953 0.5850 0.5886 4.5 10 75873920 VCL C G 1 0.00279553 . . . . 0.0105 . intronic . 0.0124 0.0114 0.0107 1.5 10 75874190 VCL T C 2 0.0125799 . . . . 0.0037 . intronic . . 0.0045 0.0044 1.5 10 75874192 VCL T C 126 0.382788 . . . . 0.4862 . intronic . . . 0.5403 1.5 10 75874667 VCL A T 1 0.000998403 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1W|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0058 . intronic . 0.0038 0.0045 0.0045 6.5 10 88439094 LDB3 G A 1 0.000798722 . . . . 0.0025 . intronic . 0.0028 0.0029 0.0039 4 10 88439175 LDB3 G C 1 0.000199681 5.907 . . . 4.497e-05 nonsynonymous_SNV exonic T . 3.581e-05 6.67e-05 8.5 10 88439866 LDB3 G A 1 0.00439297 . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 7.5e-05 synonymous_SNV exonic . 0.0002 8.952e-05 6.676e-05 4 10 88440018 LDB3 G A 9 0.0726837 . . . . . . intronic . . . 0.0365 1.5 10 88441223 LDB3 G A 2 0.00159744 1.436 MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0072 nonsynonymous_SNV exonic T 0.0070 0.0068 0.0067 6 10 88441269 LDB3 C T 1 0.000199681 -1.218 MedGen:CN169374 not_specified Likely_benign 6.306e-05 nonsynonymous_SNV exonic T 0.0001 6.398e-05 0 8.5 10 88441437 LDB3 C T 2 0.000599042 1.083 MedGen:C1832244,OMIM:601493|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN229629|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Familial_hypertrophic_cardiomyopathy_24|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0007 nonsynonymous_SNV exonic T 0.0002 0.0007 0.0007 11 10 88441527 LDB3 G A 1 0.000199681 4.708 MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374 Myofibrillar_myopathy,_ZASP-related|not_specified Uncertain_significance 7.751e-05 nonsynonymous_SNV exonic T . 5.544e-05 . 8.5 10 88445385 LDB3 G C 150 0.624201 . MedGen:CN169374 not_specified Benign 0.7452 . intronic . 0.7528 0.7447 0.7454 1.5 10 88446811 LDB3 G A 9 0.0613019 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446 Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign 0.0363 . intronic . 0.0396 0.0360 0.0414 1.5 10 88446830 LDB3 G A 2 0.00778754 3.591 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1832244,OMIM:601493|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0043 nonsynonymous_SNV exonic T 0.0040 0.0040 0.0029 11 10 88446985 LDB3 T C 9 0.0567093 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign 0.0361 synonymous_SNV exonic . 0.0407 0.0360 0.0414 4.5 10 88447076 LDB3 A T 2 0.00479233 . . . . 0.0023 . intronic . 0.0035 0.0023 0.0025 4 10 88447082 LDB3 A C 9 0.0439297 . . . . . . intronic . . . 0.0412 4.5 10 88451649 LDB3 A G 2 0.0061901 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0023 . intronic . 0.0038 0.0023 0.0025 4 10 88451715 LDB3 A G 1 0.0171725 3.610 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign 0.0011 nonsynonymous_SNV exonic T 0.0010 0.0014 0.0011 3.5 10 88451869 LDB3 G C 34 0.241214 . MedGen:CN169374 not_specified Benign 0.1302 . intronic . 0.1154 0.1231 0.1273 1.5 10 88452190 LDB3 G A 1 0.000998403 . . . . . . intronic . . . 0.0034 4 10 88452258 LDB3 G A 6 0.00259585 . . . . 0.0058 . intronic . 0.0038 0.0056 0.0026 5 10 88458996 LDB3 TTCTCTCTC CTCTCTCTC,TTCTCTC,TTCTC,TTC,T 6 0.0501198 . . . . 0.0283 . intronic . . 0.0239 0.0004 1.5 10 88459000 LDB3 C G 2 0.0301518 . . . . . . intronic . . . . 1.5 10 88459002 LDB3 C T 2 0.0301518 . . . . 0.0001 . intronic . . 1.247e-05 . 1.5 10 88459050 LDB3 G A 1 0.000798722 . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0008 synonymous_SNV exonic . 0.0001 0.0006 0.0005 4 10 88459055 LDB3 G A 1 0.000199681 2.444 . . . 2.999e-05 nonsynonymous_SNV exonic T . 1.801e-05 0 8.5 10 88459066 LDB3 C T 1 0.000199681 2.712 MedGen:CN169374 not_specified Uncertain_significance 1.5e-05 nonsynonymous_SNV exonic T 0.0001 2.694e-05 6.684e-05 8.5 10 88466465 LDB3 C T 12 0.0201677 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign 0.0489 synonymous_SNV exonic . 0.0369 0.0442 0.0477 1.5 10 88469831 LDB3 G A 2 0.00698882 . . . . 0.0085 . intronic . 0.0072 0.0086 0.0129 1.5 10 88469837 LDB3 C G 6 0.0385383 . MedGen:CN169374 not_specified Likely_benign 0.0359 . intronic . 0.0357 0.0339 0.0392 1.5 10 88476105 LDB3 C G 1 0.000199681 4.244 MedGen:C0340427,Orphanet:ORPHA217607|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Familial_dilated_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0002 0.0001 8.5 10 88477932 LDB3 CAT C 1 0.00798722 . . . . 0.0003 . intronic . 0.0004 0.0004 0 4 10 88485858 LDB3 C T 2 0.00439297 . . . . 0.0018 . intronic . 0.0027 0.0019 0.0017 4 10 92672564 ANKRD1 T C 92 0.354233 . MedGen:CN239310 Dilated_Cardiomyopathy,_Dominant Likely_benign . . UTR3 . . . 0.4794 1.5 10 92675649 ANKRD1 GA G 39 0.178714 . MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.1657 . intronic . 0.1575 0.1591 0.1705 1.5 10 92675857 ANKRD1 G A 16 0.0621006 . . . . . . intronic . . . 0.0269 1.5 10 92678728 ANKRD1 G A 1 0.000798722 3.758 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0003 0.0003 6 10 92678744 ANKRD1 A T 170 0.810104 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0120 . intronic . . 0.0017 0.0083 1.5 10 92678747 ANKRD1 A G 92 0.357827 . . . . . . intronic . . . . 1.5 10 92678748 ANKRD1 A T 169 0.784545 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.0429 . intronic . . 0.0085 0.0626 1.5 10 92678761 ANKRD1 A C 4 0.00419329 . . . . . . intronic . . . . 5 10 92678762 ANKRD1 T A 4 0.00419329 . . . . . . intronic . . . . 5 10 92678764 ANKRD1 T A 4 0.00419329 . . . . . . intronic . . . . 5 10 92678765 ANKRD1 A G 112 0.441094 . . . . 0.6758 . intronic . . 0.6641 0.5462 1.5 10 92678789 ANKRD1 T C 5 0.00319489 . . . . . . intronic . . . 0.0083 5 10 92680886 ANKRD1 G A 1 0.000998403 . MedGen:CN239310 Dilated_Cardiomyopathy,_Dominant Uncertain_significance . . UTR5 . . . 0.0002 4 10 101473218 COX15 A G 188 0.827077 0.914 MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED_CT:67434000|MedGen:CN169374 Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency|not_specified Benign 0.8737 nonsynonymous_SNV exonic T 0.8733 0.8763 0.8814 3.5 10 101474499 COX15 T C 50 0.233427 . . . . 0.2828 . intronic . 0.2957 0.2904 0.3256 4.5 10 101487354 COX15 G T 1 0.000599042 . . . . 0.0024 . intronic . 0.0033 0.0027 0.0021 4 10 112404302 RBM20 G A 32 0.222244 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1372 synonymous_SNV exonic . . 0.1492 0.1394 1.5 10 112541062 RBM20 G A 1 0.0271565 5.048 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0017 nonsynonymous_SNV exonic T 0.0016 0.0012 0.0003 4.75 10 112541073 RBM20 T C 1 0.000199681 -0.375 . . . . nonsynonymous_SNV exonic T . . . 8.5 10 112541335 RBM20 A G 1 0.000199681 -0.710 . . . . nonsynonymous_SNV exonic T . . . 8.5 10 112541676 RBM20 T C 52 0.132987 . . . . 0.2764 . intronic . 0.2788 0.3045 0.2962 1.5 10 112541678 RBM20 G A 52 0.132987 . . . . 0.2764 . intronic . . 0.3041 0.2958 1.5 10 112543217 RBM20 G A 153 0.788139 . . . . 0.7966 . intronic . 0.7879 0.7960 0.8062 1.5 10 112544042 RBM20 T C 1 0.000199681 . . . . . . intronic . . . . 6.5 10 112544063 RBM20 A C 109 0.633986 . . . . 0.5824 . intronic . 0.5698 0.5772 0.5783 1.5 10 112544244 RBM20 G A 2 0.00778754 . . . . . . intronic . 0.0066 . 0.0033 4 10 112544505 RBM20 G T 4 0.00139776 . . . . 0.0084 . intronic . . 0.0037 0.0035 5 10 112544655 RBM20 C T 41 0.164137 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2137 . intronic . 0.2200 0.2240 0.2270 1.5 10 112559490 RBM20 C A 1 0.000199681 . . . . . . intronic . . . . 6.5 10 112559652 RBM20 G A 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 10 112570130 RBM20 G C 5 0.0365415 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0253 . intronic . 0.0245 0.0229 0.0225 2.75 10 112570147 RBM20 G A 1 0.000199681 7.468 MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance 0.0001 nonsynonymous_SNV exonic D . 5.18e-05 0.0002 10.5 10 112570243 RBM20 T C 91 0.316494 . . . . 0.3895 . intronic . 0.3755 0.3846 0.3705 1.5 10 112572147 RBM20 C T 1 0.000998403 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0034 synonymous_SNV exonic . . 0.0033 0.0022 6.5 10 112572458 RBM20 G C 214 0.991014 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.9998 nonsynonymous_SNV exonic . 0.9994 0.9997 0.9997 4.75 10 112579791 RBM20 C T 1 0.000798722 . . . . 0.0010 . intronic . . 0.0005 0.0003 4 10 112583178 RBM20 ATGTTGTATTTCTT A 1 0.00359425 . . . . . . intronic . . . . 4 10 112583294 RBM20 G A 3 0.00199681 3.854 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0085 nonsynonymous_SNV exonic T 0.0053 0.0051 0.0044 7.25 10 112590778 RBM20 G C 1 0.0407348 . . . . 0.0009 . intronic . 0.0013 0.0009 0.0006 1.5 10 112590810 RBM20 G C 214 0.969649 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.9998 . intronic . 0.9994 0.9998 0.9998 2.75 10 112590980 RBM20 C T 1 0.000199681 . . . . 0.0002 . intronic . . 0.0010 0.0005 4 10 112595719 RBM20 G C 172 0.697085 5.504 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.8681 nonsynonymous_SNV exonic T 0.8724 0.8665 0.8760 4.75 10 121429394 BAG3 G A 7 0.00738818 2.270 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign 0.0301 nonsynonymous_SNV exonic T 0.0326 0.0312 0.0351 4.75 10 121429412 BAG3 C T 1 0.000199681 0.270 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified Conflicting_interpretations_of_pathogenicity 0.0005 nonsynonymous_SNV exonic T 0.0006 0.0005 0.0003 8.5 10 121429633 BAG3 T C 34 0.0964457 4.176 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.2214 nonsynonymous_SNV exonic T 0.2073 0.2177 0.2062 3.5 10 121429645 BAG3 G A 2 0.00179712 0.668 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign 0.0046 nonsynonymous_SNV exonic T . 0.0036 0.0029 7.25 10 121432040 BAG3 C T 1 0.000199681 2.527 MedGen:CN169374 not_specified Likely_benign 1.507e-05 nonsynonymous_SNV exonic T . 1.804e-05 0 8.5 10 121435955 BAG3 A C 164 0.635184 . MedGen:CN169374 not_specified Benign 0.7299 . intronic . 0.7245 0.7294 0.7195 1.5 10 121436068 BAG3 T G 23 0.155751 . MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign 0.0846 synonymous_SNV exonic . 0.0881 0.0861 0.0958 1.5 10 121436100 BAG3 A T 1 0.000199681 5.722 . . . 4.496e-05 nonsynonymous_SNV exonic T . 3.581e-05 . 8.5 10 121436286 BAG3 C T 23 0.155551 3.244 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign 0.0844 nonsynonymous_SNV exonic T 0.0877 0.0860 0.0960 3.5 10 121436362 BAG3 A G 176 0.70647 . MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign 0.7819 synonymous_SNV exonic . 0.7792 0.7841 0.7798 1.5 11 533415 HRAS G A 1 0.000399361 . . . . 0.0006 . intronic\x3bintronic . 0.0007 0.0009 0.0009 0 11 533546 HRAS G A 2 0.000798722 . MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Costello_syndrome|Rasopathy|not_specified Benign 0.0015 synonymous_SNV exonic . 0.0012 0.0018 0.0015 0 11 533664 HRAS T A 2 0.000399361 . . . . 3.018e-05 . intronic . . 2.69e-05 0.0001 2.5 11 533821 HRAS G C 1 0.000199681 2.510 . . . . nonsynonymous_SNV exonic T . . . 4.5 11 534197 HRAS C T 14 0.0766773 . MedGen:CN169374 not_specified Benign 0.0401 . intronic . 0.0431 0.0417 0.0474 -2.5 11 534242 HRAS A G 69 0.297125 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Rasopathy|not_specified|not_provided Benign 0.3297 synonymous_SNV exonic . 0.3441 0.3384 0.3542 3.5 11 534332 HRAS G A 7 0.0357428 . MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN169374|MedGen:CN517202 Costello_syndrome|not_specified|not_provided Benign 0.0573 . UTR5 . 0.0462 0.0500 0.0430 -2.5 11 2466274 KCNQ1 G C 1 0.000199681 . . . . . . UTR5 . . . 0 6.5 11 2466501 KCNQ1 C T 1 0.000199681 3.646 . . . . nonsynonymous_SNV exonic D . . . 8.5 11 2549229 KCNQ1 C T 1 0.000399361 3.595 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Uncertain_significance 0.0002 nonsynonymous_SNV exonic D 0.0005 0.0002 6.676e-05 6 11 2549230 KCNQ1 G A 1 0.000399361 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0016 synonymous_SNV exonic . 0.0027 0.0020 0.0020 4 11 2549257 KCNQ1 C T 1 0.0171725 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 0.0003 . intronic . 0.0003 0.0003 0.0004 1.5 11 2549329 KCNQ1 TGG T 118 0.593251 . . . . . . intronic . . . 0.6615 1.5 11 2591802 KCNQ1 T G 1 0.00419329 . . . . . . intronic . . . 0.0004 4 11 2591893 KCNQ1 C T 1 0.000199681 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0013 synonymous_SNV exonic . 0.0016 0.0010 0.0013 4 11 2592033 KCNQ1 G A 1 0.000599042 . . . . 0.0019 . intronic . 0.0037 0.0023 0.0017 4 11 2593185 KCNQ1 C T 1 0.00658946 . . . . . . intronic . . . 0.0279 1.5 11 2593416 KCNQ1 A G 58 0.328874 . . . . . . intronic . . . 0.2310 1.5 11 2594037 KCNQ1 C T 1 0.000399361 . . . . 6.205e-05 . intronic . 0.0001 6.322e-05 . 6.5 11 2594106 KCNQ1 C T 1 0.000399361 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0009 synonymous_SNV exonic . 0.0002 0.0004 0.0003 4 11 2594268 KCNQ1 T G 3 0.00279553 . . . . 0.0063 . intronic . 0.0039 0.0068 0.0053 4 11 2606519 KCNQ1 G A 1 0.000199681 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 9.048e-05 synonymous_SNV exonic . 0.0003 0.0001 6.668e-05 6.5 11 2606621 KCNQ1 C T 8 0.00678914 . . . . . . intronic . . . 0.0113 1.5 11 2609919 KCNQ1 A G 1 0.000199681 . . . . 1.526e-05 . intronic . . 8.978e-06 . 6.5 11 2683152 KCNQ1OT1 T G 38 0.305112 . . . . 0.0938 . ncRNA_exonic . 0.0923 0.0911 0.0962 -2.5 11 2683177 KCNQ1OT1 C T 4 0.0129792 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 0.0112 . ncRNA_exonic . 0.0138 0.0128 0.0136 -2.5 11 2683329 KCNQ1OT1 C T 2 0.0191693 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign 0.0005 . ncRNA_exonic . 0.0002 0.0004 6.668e-05 -2.5 11 2683357 KCNQ1OT1 A G 88 0.519768 . . . . 0.4497 . ncRNA_exonic . 0.4637 0.4573 0.4670 -2.5 11 2683361 KCNQ1OT1 C G 1 0.00139776 . . . . 0.0017 . ncRNA_exonic . 0.0034 0.0022 0.0015 0 11 2790019 KCNQ1 G A 8 0.0908546 . . . . . . intronic . 0.0305 . 0.0256 1.5 11 2790163 KCNQ1 T C 41 0.0461262 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Long_QT_syndrome|Cardiac_arrhythmia|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 0.1177 . intronic . 0.1172 0.1165 0.1083 1.5 11 2797197 KCNQ1 G A 1 0.000199681 5.912 MedGen:CN517202 not_provided Uncertain_significance 9.86e-05 nonsynonymous_SNV exonic D . 4.522e-05 . 10.5 11 2797237 KCNQ1 G A 35 0.180911 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype Benign 0.2836 synonymous_SNV exonic . 0.1932 0.1866 0.2029 1.5 11 2797320 KCNQ1 A G 149 0.668331 . . . . 0.6840 . intronic . 0.6891 0.6784 0.6863 1.5 11 2798305 KCNQ1 T C 54 0.223842 . . . . 0.2406 . intronic . 0.2302 0.2356 0.2468 1.5 11 2798341 KCNQ1 C T 1 0.000199681 . . . . . . intronic . . . . 6.5 11 2799211 KCNQ1 A G 1 0.000199681 0.782 . . . . nonsynonymous_SNV exonic D . . . 8.5 11 2799299 KCNQ1 G T 9 0.0133786 . . . . 0.0484 . intronic . 0.0511 0.0514 0.0608 1.5 11 2799369 KCNQ1 C G 7 0.0155751 . . . . . . intronic . . . 0.0276 1.5 11 2799380 KCNQ1 G A 2 0.000399361 . . . . . . intronic . . . 0.0015 4 11 2869002 KCNQ1 G A 1 0.000599042 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0012 synonymous_SNV exonic . 0.0009 0.0006 0.0004 4 11 2869188 KCNQ1 C T 45 0.0832668 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype Benign 0.3658 synonymous_SNV exonic . 0.2328 0.2550 0.2676 1.5 11 6625566 ILK A G 1 0.000399361 2.601 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374 Primary_familial_hypertrophic_cardiomyopathy|not_specified Likely_benign 0.0032 nonsynonymous_SNV exonic T 0.0007 0.0021 0.0013 7.25 11 6629332 ILK T C 1 0.000199681 3.622 MedGen:CN169374 not_specified Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic T . 8.952e-06 . 8.5 11 6629665 ILK C T 58 0.314696 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2634 synonymous_SNV exonic . 0.25 0.2605 0.2609 1.5 11 6630028 ILK TC T 214 1 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign 1.0000 . intronic\x3bintronic . . 1.0000 1 1.5 11 6630043 ILK C T 1 0.000199681 -0.079 . . . . . intronic\x3bintronic . . . . 6.5 11 6630410 ILK T C 51 0.120807 . . . . 0.2542 . intronic . 0.2548 0.2530 0.2603 1.5 11 6630524 ILK C T 1 0.000399361 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Benign 0.0009 . intronic . 0.0010 0.0008 0.0004 4.625 11 6630833 ILK G A 59 0.347444 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2642 synonymous_SNV exonic . 0.2514 0.2615 0.2613 1.5 11 6630962 ILK C T 1 0.000199681 . MedGen:CN169374 not_specified Benign 0.0003 synonymous_SNV exonic . 0.0002 0.0003 0.0002 6.5 11 6631016 ILK C T 51 0.160144 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2594 synonymous_SNV exonic . 0.2647 0.2581 0.2689 4.5 11 6631300 ILK G A 8 0.00579073 . . . . 0.0173 . intronic . 0.0177 0.0164 0.0124 1.5 11 6631561 ILK A C 1 0.00279553 . . . . 0.0022 . intronic . 0.0015 0.0023 0.0021 4 11 19204403 CSRP3 A G 43 0.155152 . . . . . . intronic . . . 0.1952 1.5 11 19206426 CSRP3 A T 57 0.300919 . . . . . . intronic . . . 0.2400 1.5 11 19207841 CSRP3 C T 28 0.0427316 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1124 synonymous_SNV exonic . 0.1073 0.1089 0.0981 1.5 11 19209640 CSRP3 T C 1 0.00139776 . . . . 0.0032 . intronic . 0.0024 0.0031 0.0016 4 11 19209912 CSRP3 T A 2 0.00239617 . . . . . . intronic . . . 0.0069 4 11 19213986 CSRP3 A G 4 0.00179712 5.529 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1843808,OMIM:607482|MedGen:C2677491,OMIM:612124|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1M|Familial_hypertrophic_cardiomyopathy_12|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0039 nonsynonymous_SNV exonic T 0.0054 0.0041 0.0046 12 11 47353498 MYBPC3 G A 24 0.356629 . . . . . . intronic . 0.1747 . 0.1750 7.5 11 47354068 MYBPC3 G A 24 0.341454 . MedGen:CN169374 not_specified Benign 0.1638 . intronic . 0.1646 0.1638 0.1754 7.5 11 47354787 MYBPC3 C T 49 0.476238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3910 synonymous_SNV exonic . 0.3039 0.3187 0.3157 8.75 11 47354851 MYBPC3 G C 1 0.000199681 1.231 MedGen:CN169374 not_specified Uncertain_significance . nonsynonymous_SNV exonic T . 1.099e-05 . 8.5 11 47354905 MYBPC3 T C 24 0.0329473 . MedGen:CN169374 not_specified Benign 0.1510 . intronic . 0.1060 0.1074 0.1200 1.5 11 47355233 MYBPC3 C G 1 0.000199681 7.255 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified Conflicting_interpretations_of_pathogenicity 4.546e-05 nonsynonymous_SNV exonic D . 5.403e-05 0 15.5 11 47356644 MYBPC3 G C 7 0.0239617 -2.099 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign 5.151e-05 nonsynonymous_SNV exonic T . 0.0010 . 3.5 11 47357416 MYBPC3 G A 4 0.0547125 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0528 . intronic . 0.0257 0.0239 0.0275 2.75 11 47357437 MYBPC3 G T 1 0.000199681 0.220 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype Uncertain_significance 0.0009 nonsynonymous_SNV exonic T . 0.0003 0.0004 6 11 47358997 MYBPC3 G A 4 0.048123 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0385 synonymous_SNV exonic . 0.0351 0.0385 0.0411 2.75 11 47360053 MYBPC3 G C 4 0.0694888 . MedGen:C1861862,OMIM:115197|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_4|not_specified Benign 0.0392 . intronic . 0.0363 0.0393 0.0421 2.125 11 47361011 MYBPC3 C T 1 0.000798722 . . . . . . intronic . 0.0038 . 0.0039 4 11 47361164 MYBPC3 T A 1 0.000798722 . . . . 0.0081 . intronic . 0.0034 0.0056 0.0093 4 11 47362465 MYBPC3 G C 25 0.340056 . . . . . . intronic . . . 0.1877 7.5 11 47362642 MYBPC3 C T 6 0.00898562 . MedGen:CN169374 not_specified Benign 0.0272 . intronic\x3bintronic . 0.0192 0.0218 0.0229 1.5 11 47364187 MYBPC3 C T 1 0.000199681 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0003 synonymous_SNV exonic . 0.0001 0.0003 0.0003 9 11 47364762 MYBPC3 A G 214 0.964058 . MedGen:CN169374 not_specified Benign 0.9990 . intronic . 0.9982 0.9992 0.9991 1.5 11 47365014 MYBPC3 C T 27 0.0782748 . MedGen:CN169374 not_specified Benign 0.1707 . intronic . 0.1174 0.1267 0.1174 1.5 11 47365199 MYBPC3 G A 68 0.249601 . MedGen:CN169374 not_specified Benign 0.3310 . intronic . 0.3084 0.3074 0.2921 7.5 11 47365214 MYBPC3 G A 14 0.0147764 . MedGen:CN169374 not_specified Benign 0.0420 . intronic . 0.0368 0.0418 0.0422 1.5 11 47367738 MYBPC3 C A 1 0.000199681 . . . . . . intronic . . . . 6.5 11 47367848 MYBPC3 C T 1 0.000998403 4.875 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 1.685e-05 nonsynonymous_SNV exonic T . 9.03e-06 0 8.5 11 47367871 MYBPC3 C T 1 0.000798722 4.274 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1A|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0078 nonsynonymous_SNV exonic T 0.0038 0.0056 0.0093 8.5 11 47368153 MYBPC3 G T 2 0.00838658 . MedGen:CN169374 not_specified Benign 0.0257 . intronic . 0.0242 0.0255 0.0248 1.5 11 47368860 MYBPC3 AAACC A 1 0.00139776 . . . . . . intronic . . . 0.0017 4 11 47369443 MYBPC3 G A 26 0.0611022 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2120 synonymous_SNV exonic . 0.1184 0.1256 0.1173 2.75 11 47369453 MYBPC3 G A 1 0.000199681 1.955 . . . . nonsynonymous_SNV exonic T . . . 8.5 11 47370041 MYBPC3 T C 27 0.0670927 0.243 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1393 nonsynonymous_SNV exonic T 0.1263 0.1305 0.1209 7.75 11 47370107 MYBPC3 G A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 4.313e-05 . intronic . . 3.859e-05 . 6.5 11 47370150 MYBPC3 C T 1 0.000399361 . . . . . . intronic . . . . 6.5 11 47371261 MYBPC3 C T 1 0.00239617 . . . . . . intronic . . . 0.0022 4 11 47371330 MYBPC3 T C 1 0.00179712 1.738 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0010 nonsynonymous_SNV exonic T 0.0012 0.0009 0.0008 6 11 47371414 MYBPC3 C T 1 0.00199681 2.583 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0034 nonsynonymous_SNV exonic T 0.0034 0.0033 0.0026 11 11 47371442 MYBPC3 G A 7 0.0249601 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0501 synonymous_SNV exonic . 0.0463 0.0478 0.0470 2.75 11 47371484 MYBPC3 AG A 164 0.610823 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7343 . intronic\x3bintronic . 0.7248 0.7173 0.7226 2.75 11 47371578 MYBPC3 G A 3 0.00838658 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0487 synonymous_SNV exonic . 0.0307 0.0318 0.0302 2.75 11 47371598 MYBPC3 C T 21 0.0329473 4.662 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1402 nonsynonymous_SNV exonic T 0.0864 0.0933 0.1009 4.75 11 47371664 MYBPC3 C T 1 0.000199681 3.139 . . . 0.0001 . splicing . . . . 6.5 11 47372741 MYBPC3 C A 2 0.000798722 . . . . 0.0027 . intronic . 0.0018 0.0015 0.0011 4 11 47372749 MYBPC3 C G 1 0.0607029 . MedGen:CN169374 not_specified Benign 0.0311 . intronic . 0.0217 0.0263 0.0261 1.5 11 74168330 KCNE3 A G 1 0.000199681 . . . . 7.637e-05 synonymous_SNV exonic . . 5.376e-05 0 2.5 11 74168361 KCNE3 C T 1 0.000998403 2.265 Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|Human_Phenotype_Ontology:HP:0001663,MedGen:C1962976|MedGen:C2751089,OMIM:613119|MedGen:CN169374|MedGen:CN230736|MedGen:CN231077|MedGen:CN517202 Syncope|Ventricular_fibrillation|Brugada_syndrome_6|not_specified|Cardiovascular_phenotype|Periodic_paralysis|not_provided Conflicting_interpretations_of_pathogenicity 0.0044 nonsynonymous_SNV exonic D 0.0068 0.0047 0.0049 2 11 74168411 KCNE3 A G 25 0.141174 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1151 synonymous_SNV exonic . 0.1084 0.1106 0.1314 -2.5 11 111781003 CRYAB A T 1 0.000199681 . . . . 1.515e-05 . intronic . . 8.962e-06 . 6.5 11 111781047 CRYAB A C 75 0.239816 -0.652 Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446 Posterior_polar_cataract|Alpha-B_crystallinopathy|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant Benign 0.2914 . intronic T 0.3000 0.2894 0.2783 7.5 11 111782284 CRYAB C T 4 0.0091853 . Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:C3554649,OMIM:615184|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446 Posterior_polar_cataract|Alpha-B_crystallinopathy|Dilated_cardiomyopathy_1II|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant Benign 0.0232 synonymous_SNV exonic . 0.0226 0.0206 0.0210 2.125 11 118011860 SCN4B G A 43 0.141973 . . . . . . intronic . . . 0.1839 -2.5 11 118015832 SCN4B G A 8 0.0349441 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678484,OMIM:611819|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_10|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0398 synonymous_SNV exonic . 0.0374 0.0392 0.0372 -2.5 11 118015959 SCN4B C G 2 0.000399361 . . . . 7.606e-05 . UTR5 . . 5.379e-05 . 2.5 11 118023424 SCN4B G C 1 0.000199681 . MedGen:CN169374 not_specified Benign 4.059e-05 . UTR5 . . 0.0001 6.67e-05 2.5 11 118037564 SCN2B G A 23 0.0780751 . . . . 0.1043 . UTR3 . 0.0928 0.1006 0.1047 -2.5 11 118037569 SCN2B C T 1 0.000399361 . . . . 3e-05 . UTR3 . . 1.792e-05 . 2.5 11 118037813 SCN2B G T 110 0.514377 . MedGen:CN169374 not_specified Benign 0.4739 . intronic . 0.4707 0.4661 0.4683 0.5 11 118038741 SCN2B C T 3 0.251797 . . . . . . intronic . . . 0.0212 -2.5 11 118039016 SCN2B G A 1 0.000199681 . MedGen:C3809312,OMIM:615378 Atrial_fibrillation,_familial,_14 Likely_benign . . intronic . . . . 2.5 11 118039273 SCN2B T C 8 0.249601 . . . . 0.0156 . intronic . 0.0163 0.0132 0.0098 -2.5 11 123504959 SCN3B C G 126 0.750599 . . . . 0.5550 . intronic . 0.5523 0.5519 0.5424 -2.5 11 123508842 SCN3B A G 3 0.0958466 . . . . . . intronic . 0.0113 . 0.0146 -2.5 11 123513161 SCN3B G A 25 0.0820687 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0915 synonymous_SNV exonic . 0.0896 0.0880 0.0882 -2.5 11 123513341 SCN3B G A 1 0.000199681 . . . . 6.067e-05 synonymous_SNV exonic . 0.0002 5.447e-05 6.684e-05 2.5 11 123524389 SCN3B A G 1 0.0443291 . . . . . . intronic . 0.0022 . 0.0023 -2.5 11 123524411 SCN3B G A 32 0.142173 . . . . 0.1402 . intronic . 0.1395 0.1415 0.1368 -2.5 11 128781287 KCNJ5 C T 1 0.000599042 5.122 . . . 1.499e-05 nonsynonymous_SNV exonic D . 8.952e-06 . 4 11 128781339 KCNJ5 T C 188 0.869808 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.8296 synonymous_SNV exonic . 0.8250 0.8274 0.8249 -2.5 11 128781441 KCNJ5 C T 1 0.000199681 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism Benign/Likely_benign 0.0003 synonymous_SNV exonic . 0.0009 0.0004 0.0004 0 11 128781606 KCNJ5 C T 1 0.000399361 . . . . 0 synonymous_SNV exonic . . 8.951e-06 0 2.5 11 128781978 KCNJ5 T G 188 0.866214 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.8277 synonymous_SNV exonic . 0.8216 0.8250 0.8212 0.5 11 128782002 KCNJ5 T C 188 0.867013 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.8276 synonymous_SNV exonic . 0.8216 0.8248 0.8211 0.5 11 128782012 KCNJ5 C G 213 0.995008 0.157 MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.9791 nonsynonymous_SNV exonic T 0.9820 0.9792 0.9776 -0.5 11 128782112 KCNJ5 C T 3 0.076278 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism Benign 0.0110 . intronic . 0.0083 0.0100 0.0073 -2.5 11 128786294 KCNJ5 G A 179 0.735823 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism Benign 0.7338 . intronic . 0.7279 0.7323 0.7287 -2.5 12 2224511 CACNA1C C T 5 0.0117812 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0383 synonymous_SNV exonic . 0.0235 0.0265 0.0218 1.5 12 2224553 CACNA1C G A 1 0.013778 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0007 synonymous_SNV exonic . 0.0005 0.0005 0.0001 1.5 12 2229476 CACNA1C G A 6 0.0253594 . MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374 Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified Benign/Likely_benign 0.0265 . intronic . 0.0265 0.0266 0.0219 1.5 12 2558186 CACNA1C G A 54 0.120407 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.2489 synonymous_SNV exonic . 0.2146 0.2094 0.2123 1.5 12 2558292 CACNA1C C T 1 0.000199681 . . . . 0 . intronic . . 1.81e-05 . 6.5 12 2558298 CACNA1C G A 63 0.260184 . MedGen:CN169374 not_specified Benign 0.2724 . intronic . 0.2386 0.2492 0.2561 1.5 12 2558300 CACNA1C T C 63 0.26258 . MedGen:CN169374 not_specified Benign 0.2722 . intronic . 0.2332 0.2502 0.2561 1.5 12 2602288 CACNA1C C T 1 0.000199681 . . . . . . intronic . . . . 6.5 12 2602307 CACNA1C C G 11 0.0876597 . . . . 0.0523 . intronic\x3bintronic . 0.0491 0.0498 0.0488 1.5 12 2613521 CACNA1C A G 96 0.546326 . . . . . . intronic . . . 0.3699 1.5 12 2613716 CACNA1C C T 26 0.0782748 . MedGen:CN169374 not_specified Benign 0.0824 . intronic . 0.0868 0.0817 0.0716 1.5 12 2614070 CACNA1C G T 1 0.000399361 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0034 synonymous_SNV exonic . 0.0034 0.0033 0.0027 4 12 2621912 CACNA1C G A 20 0.0597045 . . . . . . intronic . . . 0.0440 1.5 12 2622016 CACNA1C G C 1 0.000199681 5.692 . . . 1.598e-05 nonsynonymous_SNV exonic D . 8.984e-06 . 10.5 12 2659082 CACNA1C G T 59 0.294928 . . . . 0.3105 . intronic . 0.2256 0.2304 0.2286 1.5 12 2666051 CACNA1C T C 1 0.000199681 . . . . . . intronic . . . . 6.5 12 2675802 CACNA1C G A 5 0.0561102 . . . . . . intronic . . . 0.0113 1.5 12 2676683 CACNA1C C T 166 0.86222 . . . . . . intronic . . . 0.8409 1.5 12 2690702 CACNA1C G A 127 0.586661 . . . . . . intronic . . . 0.7194 1.5 12 2692186 CACNA1C T G 153 0.632588 . . . . . . intronic . . . 0.7728 1.5 12 2693848 CACNA1C G A 1 0.00339457 . . . . . . intronic . . . 0.0003 4 12 2694470 CACNA1C G A 1 0.0415335 . . . . . . intronic . . . 0.0006 1.5 12 2694638 CACNA1C C T 25 0.145567 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.1305 synonymous_SNV exonic . 0.0786 0.0851 0.0765 1.5 12 2694651 CACNA1C C T 2 0.00159744 4.997 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0061 nonsynonymous_SNV exonic D 0.0047 0.0045 0.0053 6 12 2695136 CACNA1C C T 2 0.00638978 . . . . . . intronic . 0.0189 . 0.0209 1.5 12 2706720 CACNA1C G C 204 0.951278 . . . . . . intronic . 0.9739 . 0.9762 1.5 12 2706781 CACNA1C G A 1 0.000599042 . . . . . . intronic . . . 0.0001 4 12 2714835 CACNA1C C T 1 0.00119808 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0014 . intronic . 0.0012 0.0009 0.0006 4 12 2715687 CACNA1C A G 33 0.0535144 . . . . . . intronic . . . 0.1083 1.5 12 2715941 CACNA1C G A 2 0.00678914 . . . . . . intronic . . . 0.0002 4 12 2717661 CACNA1C C A 1 0.000199681 . . . . 0.0001 . intronic . . 6.191e-05 6.664e-05 6.5 12 2719934 CACNA1C C T 33 0.052516 . . . . . . intronic . . . 0.1078 1.5 12 2720988 CACNA1C T C 60 0.261781 . . . . . . intronic . . . 0.1895 1.5 12 2721137 CACNA1C C T 60 0.259185 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.1852 synonymous_SNV exonic . . 0.1838 0.1901 1.5 12 2743567 CACNA1C C T 1 0.000199681 . . . . 0.0002 . intronic\x3bintronic . 0.0001 0.0002 0.0001 6.5 12 2743650 CACNA1C A AT 48 0.204273 . . . . . . intronic . . . 0.2764 1.5 12 2757756 CACNA1C T C 153 0.666933 . . . . . . intronic . . . 0.8137 1.5 12 2757769 CACNA1C T C 154 0.666534 . . . . . . intronic . . . 0.8138 1.5 12 2757782 CACNA1C C T 152 0.652955 . . . . . . intronic . . . 0.7998 1.5 12 2760708 CACNA1C G A 148 0.670727 . . . . 0.7639 . intronic . 0.7671 0.7669 0.7782 1.5 12 2760898 CACNA1C C T 13 0.023762 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0683 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.0673 0.0672 0.0676 1.5 12 2760965 CACNA1C GA G 79 0.382987 . . . . 0.2915 . intronic\x3bintronic . 0.2809 0.2910 0.2618 1.5 12 2760970 CACNA1C G A 132 0.553914 . . . . 0.7222 . intronic\x3bintronic . 0.7204 0.7114 0.7341 1.5 12 2763143 CACNA1C G T 3 0.0119808 . . . . . . intronic . . . 0.0020 1.5 12 2774833 CACNA1C T C 3 0.0385383 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0031 synonymous_SNV exonic . 0.0035 0.0033 0.0027 1.5 12 2778044 na G A 1 0.000199681 . . . . . . ncRNA_exonic . . . 0.0003 2.5 12 2778061 na C G 1 0.0738818 . . . . 0.0008 . ncRNA_exonic . 0.0009 0.0010 0.0008 -2.5 12 2778272 na G GC 11 0.104633 . . . . . . ncRNA_intronic . . . 0.0388 -2.5 12 2786193 na A G 1 0.000199681 . . . . . . ncRNA_exonic . . . . 2.5 12 2787058 na C T 9 0.0802716 . . . . 0.0346 . ncRNA_exonic . 0.0346 0.0368 0.0352 -2.5 12 2788615 CACNA1C C T 3 0.00299521 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0261 synonymous_SNV exonic . 0.0072 0.0094 0.0130 1.5 12 2788637 CACNA1C G A 1 0.000199681 4.307 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic D 0.0001 0.0003 0.0003 6 12 2788732 CACNA1C C A 2 0.000998403 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0024 synonymous_SNV exonic . 0.0020 0.0019 0.0017 4 12 2788810 CACNA1C C T 11 0.019369 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0675 synonymous_SNV exonic . 0.0613 0.0646 0.0690 1.5 12 2788879 CACNA1C G A 137 0.526358 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.7349 synonymous_SNV exonic . 0.7295 0.7229 0.7396 1.5 12 2788925 CACNA1C C A 1 0.000199681 . . . . 7.272e-05 synonymous_SNV exonic . . 4.482e-05 . 6.5 12 2789787 na A G 13 0.189097 . . . . 0.0470 . ncRNA_intronic . 0.0338 0.0476 0.0435 -2.5 12 2789789 na C G 13 0.189097 . . . . 0.0474 . ncRNA_intronic . 0.0340 0.0477 0.0436 -2.5 12 2791130 CACNA1C C T 170 0.669129 0.086 MedGen:CN169374 not_specified Benign 0.8109 nonsynonymous_SNV exonic T 0.8213 0.8133 0.8199 3.5 12 2791132 CACNA1C A G 174 0.770567 0.106 MedGen:CN169374 not_specified Benign 0.8198 nonsynonymous_SNV exonic T 0.8310 0.8219 0.8270 3.5 12 2791205 CACNA1C A G 214 1 . MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic . 1 1 1 3.5 12 2791722 CACNA1C C T 1 0.000199681 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Likely_benign 0.0008 synonymous_SNV exonic . 0.0006 0.0009 0.0005 4 12 2794977 CACNA1C G A 4 0.0359425 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0299 synonymous_SNV exonic . . 0.0237 0.0206 1.5 12 2795023 na C T 1 0.0159744 . MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374 Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified Benign/Likely_benign 7.753e-05 . ncRNA_intronic . . 0.0001 0.0001 -2.5 12 2795255 na C T 199 0.770767 . . . . . . ncRNA_intronic . . . 0.9556 -2.5 12 2797824 CACNA1C C T 1 0.000399361 0.108 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Uncertain_significance 4.617e-05 nonsynonymous_SNV exonic T . 9.026e-05 0.0001 8.5 12 2798006 na C T 1 0.000399361 . . . . . . ncRNA_intronic . . . 0.0009 0 12 5153694 KCNA5 C T 5 0.0147764 . MedGen:C2677106,OMIM:612240|MedGen:CN204347,Orphanet:ORPHA334 Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation Benign/Likely_benign 0.0390 synonymous_SNV exonic . 0.0411 0.0403 0.0411 -2.5 12 5153820 KCNA5 G T 1 0.000199681 . . . . 1.512e-05 synonymous_SNV exonic . . 8.963e-06 . 2.5 12 5154064 KCNA5 G A 2 0.0081869 1.589 MedGen:C2677106,OMIM:612240|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Atrial_fibrillation,_familial,_7|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 0.0120 nonsynonymous_SNV exonic T 0.0127 0.0127 0.0183 -0.5 12 5154232 KCNA5 C T 1 0.00139776 -2.109 MedGen:C2677106,OMIM:612240|MedGen:CN231063 Atrial_fibrillation,_familial,_7|altered_potassium_channel_function Conflicting_interpretations_of_pathogenicity 0.0031 nonsynonymous_SNV exonic D 0.0028 0.0040 0.0035 2 12 5154242 KCNA5 C T 1 0.00319489 1.204 MedGen:C2677106,OMIM:612240|MedGen:CN169374 Atrial_fibrillation,_familial,_7|not_specified Benign 0.0056 nonsynonymous_SNV exonic T 0.0064 0.0059 0.0055 2 12 5154277 KCNA5 G T 1 0.000199681 5.771 . . . 1.519e-05 nonsynonymous_SNV exonic D . 9.039e-06 . 6.5 12 5154462 KCNA5 T C 214 0.98103 . MedGen:C2677106,OMIM:612240|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Atrial_fibrillation,_familial,_7|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 0.9999 synonymous_SNV exonic . 0.9999 0.9999 0.9999 -2.5 12 5155046 KCNA5 G A 2 0.00319489 0.664 MedGen:C2677106,OMIM:612240|MedGen:CN029323,OMIM:601144|MedGen:CN169374 Atrial_fibrillation,_familial,_7|Brugada_syndrome_1|not_specified Benign 0.0083 nonsynonymous_SNV exonic T 0.0093 0.0097 0.0080 2 12 5155130 KCNA5 A G 1 0.000199681 5.406 . . . 1.561e-05 nonsynonymous_SNV exonic D . 9.096e-06 . 6.5 12 21918616 KCNJ8 G A 1 0.000199681 . . . . 0.0001 . UTR3 . 0.0002 0.0001 0 6.5 12 21918667 KCNJ8 G A 1 0.000199681 2.046 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0025 nonsynonymous_SNV exonic T 0.0022 0.0008 0.0005 6 12 21926614 KCNJ8 C T 1 0.000199681 . . . . . . UTR5 . . . . 6.5 12 21960458 ABCC9 T C 1 0.000199681 . . . . 1.504e-05 . intronic . . 9.002e-06 . 6.5 12 21962721 ABCC9 G A 1 0.000998403 . . . . . . intronic . . . 6.668e-05 4 12 21965173 ABCC9 CTTAG C 4 0.00638978 . . . . . . intronic . . . 0.0083 5 12 21971087 ABCC9 A G 1 0.000998403 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1837839,OMIM:608569|MedGen:CN169374 Cardiomyopathy|Dilated_cardiomyopathy_1O|not_specified Benign 0.0031 synonymous_SNV exonic . 0.0031 0.0030 0.0033 4.625 12 21981916 ABCC9 G A 1 0.000199681 . . . . 1.498e-05 synonymous_SNV exonic . . 8.954e-06 . 6.5 12 21991197 ABCC9 T C 4 0.0115815 . . . . . . intronic . . . 0.0344 1.5 12 21995253 ABCC9 G A 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 12 21997678 ABCC9 G T 1 0.000199681 . . . . 3.001e-05 . intronic . . 1.796e-05 . 6.5 12 21997874 ABCC9 C T 5 0.0501198 . . . . 0.0366 . intronic . 0.0420 0.0382 0.0344 1.5 12 21998493 ABCC9 A C 1 0.00239617 . . . . 0.0021 . intronic . 0.0007 0.0004 6.665e-05 4 12 22001255 ABCC9 G A 1 0.000199681 . . . . . . intronic . . . . 6.5 12 22001272 ABCC9 C T 5 0.0117812 . . . . . . intronic . . . 0.0159 1.5 12 22005003 ABCC9 T G 84 0.334665 . MedGen:CN169374 not_specified Benign 0.4121 . intronic . 0.4124 0.4122 0.4028 1.5 12 22005167 ABCC9 C T 2 0.00259585 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0093 . intronic . 0.0098 0.0096 0.0139 1.5 12 22005258 ABCC9 G T 13 0.0171725 . . . . 0.0510 . intronic . 0.0512 0.0509 0.0456 1.5 12 22005510 ABCC9 A G 214 0.994609 . . . . . . intronic . . . 0.9999 1.5 12 22015858 ABCC9 G A 1 0.000199681 . . . . 1.627e-05 . intronic . 0.0001 9.094e-06 . 6.5 12 22016004 ABCC9 GA AA,GAA,G 1 0.360423 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.4122 . intronic . . 0.4112 0.3188 1.5 12 22017278 ABCC9 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 12 22017398 ABCC9 C T 1 0.000199681 3.625 . . . 3.011e-05 nonsynonymous_SNV exonic D . 1.797e-05 . 8.5 12 22017410 ABCC9 C T 1 0.00399361 2.389 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001658,MedGen:C0027051,SNOMED_CT:22298006|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Myocardial_infarction|Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0107 nonsynonymous_SNV exonic T 0.0132 0.0115 0.0089 4.75 12 22017422 ABCC9 A G 214 0.998203 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 1 . intronic . 1 1 1 1.5 12 22017428 ABCC9 C G 1 0.000199681 . . . . 3.01e-05 . intronic . 0.0001 2.7e-05 . 6.5 12 22017486 ABCC9 C G 214 0.998203 . . . . . . intronic . 1 . 1 1.5 12 22025671 ABCC9 A G 1 0.000798722 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1837839,OMIM:608569|MedGen:CN169374 Hypertrichotic_osteochondrodysplasia|Brugada_syndrome|Dilated_cardiomyopathy_1O|not_specified Benign/Likely_benign 0.0037 . intronic . 0.0035 0.0041 0.0047 5.25 12 22035615 ABCC9 A T 3 0.0391374 . . . . . . intronic . . . 0.0158 1.5 12 22035847 ABCC9 T C 1 0.000199681 . . . . 3.016e-05 . intronic . . 1.803e-05 0 6.5 12 22035873 ABCC9 C T 150 0.534744 . . . . . . intronic . . . 0.7826 1.5 12 22035883 ABCC9 T G 53 0.421925 . . . . . . intronic . . . 0.2001 1.5 12 22040784 ABCC9 C A 2 0.000399361 2.197 MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic T 0.0010 0.0004 0.0005 8.5 12 22040854 ABCC9 T G 1 0.000199681 2.400 MedGen:C1837839,OMIM:608569 Dilated_cardiomyopathy_1O Uncertain_significance 3.012e-05 nonsynonymous_SNV exonic T 0.0001 2.7e-05 6.66e-05 8.5 12 22047151 ABCC9 G T 214 0.997804 . MedGen:CN169374 not_specified Benign 1.0000 . intronic . 1 1 1 1.5 12 22047174 ABCC9 C T 166 0.686302 . . . . . . intronic . . . 0.6838 1.5 12 22059121 ABCC9 C T 2 0.000399361 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Dilated_cardiomyopathy_1O|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0006 synonymous_SNV exonic . 0.0002 0.0005 0.0002 6.5 12 22059244 ABCC9 A G 1 0.000199681 . . . . 2.888e-05 . intronic . . 1.086e-05 . 6.5 12 22063115 ABCC9 A G 214 0.997204 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 1.0000 synonymous_SNV exonic . 1 1 1 1.5 12 22063251 ABCC9 CA C 72 0.375799 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.4473 . intronic . . 0.4459 0.4674 1.5 12 22063737 ABCC9 G T 214 0.991613 . MedGen:CN169374 not_specified Benign 0.9998 . intronic . 0.9998 0.9999 0.9997 1.5 12 22063749 ABCC9 T C 214 0.991613 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.9998 . intronic . 0.9998 0.9999 0.9997 1.5 12 22063971 ABCC9 A G 154 0.667332 . . . . . . intronic . . . 0.6021 1.5 12 22068591 ABCC9 C T 1 0.000399361 . MedGen:CN169374 not_specified Likely_benign 0.0001 . intronic . 0.0001 0.0002 . 6.5 12 22068849 ABCC9 G T 148 0.644768 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.6025 . intronic . 0.5925 0.5915 0.5917 1.5 12 22078838 ABCC9 T G 155 0.701677 . MedGen:CN169374 not_specified Benign 0.6172 . intronic . 0.6074 0.6074 0.6033 1.5 12 22089425 ABCC9 A G 1 0.00199681 . . . . 0.0098 . intronic . 0.0088 0.0089 0.0073 4 12 25362777 KRAS A G 46 0.175519 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified Benign 0.2216 synonymous_SNV exonic . 0.2160 0.2223 0.2119 -2.5 12 25362854 KRAS C T 1 0.0836661 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified Benign/Likely_benign 0.0060 . intronic . 0.0049 0.0044 0.0030 -2.5 12 25368462 KRAS C T 214 0.997604 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign 1 synonymous_SNV exonic . 1 1 1 -2.5 12 25398162 KRAS A C 1 0.000399361 . MedGen:CN169374 not_specified Likely_benign 0.0031 . intronic . 0.0031 0.0027 0.0017 0 12 32945486 PKP2 G T 6 0.0339457 . . . . . . intronic\x3bintronic . 0.0283 . 0.0253 1.5 12 32945495 PKP2 C T 143 0.450479 . . . . . . intronic\x3bintronic . . . 0.6571 1.5 12 32945721 PKP2 G T 143 0.45028 . . . . . . intronic . 0.6760 . 0.6576 1.5 12 32949029 PKP2 A AG 23 0.318291 . MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.1396 . intronic . 0.1393 0.1401 0.1401 1.5 12 32949101 PKP2 G T 2 0.000599042 7.211 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0012 nonsynonymous_SNV exonic T 0.0006 0.0010 0.0005 6 12 32949252 PKP2 AC A 23 0.304912 . MedGen:CN169374 not_specified Benign 0.1115 . intronic . 0.1207 0.0915 0.1204 1.5 12 32974245 PKP2 C T 177 0.591653 . MedGen:CN169374 not_specified Benign 0.8166 . intronic . 0.8183 0.8167 0.8163 1.5 12 32974352 PKP2 G A 1 0.000199681 7.044 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype Uncertain_significance 0.0002 nonsynonymous_SNV exonic D . 0.0002 6.664e-05 10.5 12 32974523 PKP2 C T 2 0.00399361 . . . . . . intronic . . . 0.0113 1.5 12 32977103 PKP2 G GA 2 0.00219649 . MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Benign/Likely_benign 0.0052 . intronic . 0.0044 0.0043 0.0055 4 12 32994144 PKP2 A G 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 3.023e-05 . intronic . 0.0001 1.812e-05 . 6.5 12 32994180 PKP2 G T 1 0.000199681 . . . . 1.519e-05 . intronic . . 1.848e-05 . 6.5 12 33003918 PKP2 A G 1 0.00279553 . MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Benign/Likely_benign 0.0035 . intronic . 0.0030 0.0039 0.0040 4 12 33021934 PKP2 A G 37 0.151358 0.112 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.2099 nonsynonymous_SNV exonic T 0.2301 0.2200 0.2192 3.5 12 33030802 PKP2 T C 1 0.000998403 -1.051 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0029 nonsynonymous_SNV exonic T 0.0022 0.0010 0.0007 8.5 12 33031309 PKP2 T C 1 0.000199681 0.338 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0015 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0013 6 12 33031799 PKP2 A G 1 0.00179712 . . . . . . intronic . . . 0.0075 4 12 33049590 PKP2 C T 2 0.00299521 6.871 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN232456|MedGen:CN239181|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Dysplasia,_arrhythmogenic_right_ventricular|Cardiomyopathy,_ARVC|not_provided Benign/Likely_benign 0.0231 nonsynonymous_SNV exonic D 0.0068 0.0097 0.0077 5.5 12 98909876 TMPO C T 1 0.000199681 . . . . 3.902e-05 synonymous_SNV exonic . . 2.612e-05 . 6.5 12 98925650 TMPO G T 110 0.530351 . . . . 0.5549 . intronic . 0.5688 0.5540 0.5630 1.5 12 98926985 TMPO C G 1 0.0299521 3.863 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2674876,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0013 nonsynonymous_SNV exonic T 0.0017 0.0007 0.0012 3.5 12 98927147 TMPO C G 1 0.000199681 5.570 . . . 1.5e-05 nonsynonymous_SNV exonic T . 8.962e-06 . 8.5 12 98927278 TMPO T G 1 0.000199681 0.194 . . . 8.998e-05 nonsynonymous_SNV exonic T 0.0001 7.168e-05 . 8.5 12 98927830 TMPO C G 29 0.0589058 1.914 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0989 nonsynonymous_SNV exonic T 0.0965 0.0986 0.0957 9.5 12 98938894 TMPO T C 1 0.000199681 . . . . . . intronic . . . 7.208e-05 6.5 12 98938907 TMPO G T 99 0.444089 . . . . . . intronic . . . 0.0115 1.5 12 98938911 TMPO T TG 4 0.0425319 . . . . . . intronic . . . 0.0143 1.5 12 98940228 TMPO A AT 23 0.086262 . MedGen:CN169374 not_specified Benign 0.0751 . intronic . 0.0840 0.0760 0.0844 1.5 12 98940250 TMPO A G 1 0.000199681 . . . . 0.0001 . intronic . 0.0001 9.891e-05 . 6.5 12 98940289 TMPO T A 3 0.00199681 . . . . . . intronic . . . 0.0038 4 12 98941637 TMPO A G 2 0.00279553 . MedGen:CN169374 not_specified Likely_benign 0.0050 . UTR3 . 0.0059 0.0050 0.0037 4 12 111350807 MYL2 G A 3 0.00439297 . . . . . . intronic . . . 0.0180 1.5 12 111350999 MYL2 G A,T 3 0.00439297 . . . . 0.0142 . intronic\x3bintronic . . 0.0155 0.0181 1.5 12 111351002 MYL2 CA C 1 0.0449281 . . . . 0.0004 . intronic\x3bintronic . 0.0005 0.0004 0.0002 1.5 12 111351003 MYL2 A AG 11 0.10024 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202 Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided Benign 0.0702 . intronic\x3bintronic . 0.0664 0.0653 0.0729 2.125 12 111351029 MYL2 TC T 57 0.252596 . MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_10|not_specified|not_provided Benign 0.2953 . intronic\x3bintronic . 0.3138 0.3028 0.3084 2.125 12 111351186 MYL2 C T 11 0.102636 . MedGen:CN517202 not_provided not_provided . . intronic . 0.0644 . 0.0727 1.5 12 111351204 MYL2 T G 3 0.00439297 . . . . . . intronic . . . 0.0180 1.5 12 111351932 MYL2 C A 3 0.00439297 . . . . . . intronic . . . 0.0181 1.5 12 111351937 MYL2 C T 11 0.0982428 . . . . . . intronic . . . 0.0730 1.5 12 111351973 MYL2 C CAG 3 0.00539137 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1834460,OMIM:608758 Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10 Benign 0.0141 . intronic . 0.0134 0.0154 0.0181 2.125 12 111353556 MYL2 A G 15 0.115216 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0848 synonymous_SNV exonic . 0.0801 0.0873 0.0908 2.75 12 111357074 MYL2 T A 15 0.166134 . . . . . . intronic . . . 0.0909 1.5 12 111358234 MYL2 G A 3 0.0207668 . . . . . . intronic . 0.0116 . 0.0143 1.5 12 111358252 MYL2 C G 2 0.00119808 . . . . . . intronic . . . 0.0019 4 12 111358266 MYL2 C T 3 0.0155751 . . . . . . intronic . 0.0116 . 0.0145 1.5 12 111358423 MYL2 A G 1 0.000199681 . . . . . . upstream . . . . 6.5 12 112856954 PTPN11 G C 2 0.0632987 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign 0.0111 . intronic . . 0.0139 0.0180 0.5 12 112856983 PTPN11 C A 2 0.0453275 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006 Noonan_syndrome Benign . . intronic . . . 0.0180 0.5 12 112888140 PTPN11 C T 1 0.000199681 . . . . 1.499e-05 synonymous_SNV exonic . . 8.993e-06 . 2.5 12 112891203 PTPN11 G C 2 0.00599042 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Rasopathy|not_specified Benign 0.0145 . intronic . 0.0127 0.0155 0.0147 -2.5 12 112893675 PTPN11 GTTT GTT 104 . . . . . . . intronic . . . . 7 12 112910723 PTPN11 A G 1 0.000199681 . . . . 0.0006 . intronic . 0.0006 0.0006 0.0007 0 12 112915434 PTPN11 C T 11 0.0365415 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign 0.0790 . intronic . 0.0741 0.0820 0.0795 3.5 12 112919869 PTPN11 C A 1 0.0429313 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C0175704,Orphanet:ORPHA500|MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Noonan_syndrome_with_multiple_lentigines|Metachondromatosis|Rasopathy|not_specified Benign/Likely_benign 0.0105 . intronic . 0.0107 0.0109 0.0166 0.5 12 114793297 TBX5 T C 3 0.0806709 . MedGen:C0265264,OMIM:142900,SNOMED_CT:19092004|MedGen:CN169374 Holt-Oram_syndrome|not_specified Benign 0.0050 . UTR3 . 0.0028 0.0041 0.0047 -2.5 12 114803927 TBX5 A G 1 0.000798722 -0.076 . . . 0 . intronic T . 0 0 0 12 114803954 TBX5 G A 1 0.00239617 -0.054 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Likely_benign 0.0081 . intronic T 0.0097 0.0091 0.0093 0 12 114832510 TBX5 C A 129 0.528754 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.6267 . intronic . 0.6307 0.6284 0.6119 -2.5 12 114841589 TBX5 G A 2 0.000798722 5.798 . . . 4.599e-05 nonsynonymous_SNV exonic D . 2.742e-05 . 4 14 23851325 MYH6 G A 1 0.0485224 . . . . . . intronic . 0.0041 . 0.0043 1.5 14 23851400 MYH6 C T 30 0.122005 . . . . . . intronic . . . 0.1154 4.5 14 23852497 MYH6 T C 1 0.0848642 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0035 synonymous_SNV exonic . 0.0069 0.0041 0.0046 2.75 14 23852537 MYH6 T G 19 0.240415 . . . . 0.0070 . intronic . . 0.0387 0.0265 1.5 14 23852541 MYH6 A G 19 0.241214 . . . . 0.0061 . intronic . . 0.0601 0.0206 1.5 14 23852545 MYH6 T G 18 0.240016 . . . . 0.0677 . intronic . . 0.1690 0.0214 1.5 14 23852548 MYH6 G A 3 0.0523163 . . . . 0.0008 . intronic . . . . 1.5 14 23852550 MYH6 G A 9 0.141573 . . . . 0.0132 . intronic . . 0.0128 0.0001 1.5 14 23853629 MYH6 T C 75 0.229633 . MedGen:CN169374 not_specified Benign 0.2675 . intronic . 0.2644 0.2638 0.2396 1.5 14 23853739 MYH6 C T 1 0.000399361 1.468 . . . 0.0003 nonsynonymous_SNV exonic T . 0.0003 0.0002 8.5 14 23853740 MYH6 C T 1 0.000399361 0.952 . . . 0.0003 nonsynonymous_SNV exonic T . 0.0003 0.0002 8.5 14 23854155 MYH6 G A 29 0.0363419 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1066 synonymous_SNV exonic . 0.1158 0.1089 0.1111 4.5 14 23854272 MYH6 T C 19 0.072484 . MedGen:CN169374 not_specified Benign 0.0877 . intronic . 0.0844 0.0831 0.0785 4.5 14 23854324 MYH6 A G 124 0.488019 . . . . . . intronic . . . 0.4516 1.5 14 23855320 MYH6 G A 29 0.0365415 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1067 synonymous_SNV exonic . 0.1159 0.1090 0.1111 4.5 14 23855357 MYH6 T A 1 0.0489217 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity 0.0033 . intronic . 0.0059 0.0039 0.0043 1.5 14 23855478 MYH6 C G 29 0.0365415 . MedGen:CN169374 not_specified Benign 0.1060 . intronic . 0.1149 0.1083 0.1110 4.5 14 23855511 MYH6 C T 3 0.00539137 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0136 . intronic . 0.0109 0.0125 0.0130 1.5 14 23855569 MYH6 A G 124 0.492812 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.4821 synonymous_SNV exonic . 0.4855 0.4772 0.4524 1.5 14 23855645 MYH6 A G 1 0.048722 1.714 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0031 nonsynonymous_SNV exonic T 0.0019 0.0031 0.0045 4.75 14 23855705 MYH6 T A 1 0.0491214 1.421 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0032 nonsynonymous_SNV exonic T 0.0034 0.0031 0.0042 4.75 14 23855711 MYH6 T C 1 0.000599042 4.594 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_14|not_specified|not_provided Uncertain_significance 4.495e-05 nonsynonymous_SNV exonic D 0.0001 3.58e-05 6.679e-05 6 14 23855849 MYH6 C T 74 0.235224 . MedGen:CN169374 not_specified Benign 0.2676 . intronic . 0.2634 0.2645 0.2387 1.5 14 23856714 MYH6 G A 14 0.019369 . . . . 0.0409 . intronic . 0.0417 0.0379 0.0341 1.5 14 23856861 MYH6 C T 1 0.0325479 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0034 synonymous_SNV exonic . 0.0057 0.0040 0.0043 2.75 14 23856896 MYH6 A G 96 0.471645 . MedGen:CN169374 not_specified Benign 0.4971 . intronic . 0.4965 0.4907 0.5003 1.5 14 23857100 MYH6 C T 1 0.000199681 . . . . 4.528e-05 synonymous_SNV exonic . . 4.522e-05 . 6.5 14 23857351 MYH6 G A 95 0.419728 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3592 . intronic . 0.3660 0.3605 0.3456 1.5 14 23858008 MYH6 C T 1 0.000998403 . . . . . . intronic . . . 0.0030 4 14 23858232 MYH6 C T 30 0.0347444 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1103 synonymous_SNV exonic . 0.1172 0.1116 0.1166 4.5 14 23858275 MYH6 G C 1 0.0279553 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0073 . intronic . . 0.0073 0.0074 1.5 14 23858697 MYH6 C G 3 0.00419329 6.301 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0026 nonsynonymous_SNV exonic D 0.0044 0.0029 0.0027 9.25 14 23859551 MYH6 G C 1 0.000199681 5.232 MedGen:CN169374 not_specified Uncertain_significance 0.0002 nonsynonymous_SNV exonic D . 9.39e-05 . 10.5 14 23859610 MYH6 C T 35 0.0728834 5.149 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1217 nonsynonymous_SNV exonic T . 0.1183 0.1101 3.5 14 23859714 MYH6 C T 10 0.0992412 . . . . . . intronic . . . 0.0687 1.5 14 23861811 MYH6 A G 87 0.3748 0.873 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3635 nonsynonymous_SNV exonic T 0.3737 0.3631 0.3678 3.5 14 23862710 MYH6 C T 2 0.00419329 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0129 synonymous_SNV exonic . 0.0120 0.0113 0.0151 2.75 14 23862783 MYH6 C T 1 0.000199681 . . . . . . intronic . . . . 6.5 14 23862785 MYH6 A T 1 0.000199681 . . . . . . intronic . . . . 6.5 14 23863152 MYH6 A G 4 0.0585064 . . . . 0.0114 . intronic . 0.0099 0.0103 0.0073 1.5 14 23863247 MYH6 A G 1 0.000199681 . . . . 1.499e-05 . intronic . . 3.595e-05 . 6.5 14 23865885 MYH6 G A 84 0.367812 . MedGen:CN169374 not_specified Benign 0.3548 . intronic . 0.3628 0.3529 0.3604 1.5 14 23866146 MYH6 G C 11 0.0325479 . . . . 0.0144 . intronic . 0.0124 0.0122 0.0097 1.5 14 23866189 MYH6 G A 11 0.0339457 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0146 synonymous_SNV exonic . 0.0127 0.0124 0.0097 2.75 14 23866713 MYH6 A G 73 0.30651 . MedGen:CN169374 not_specified Benign 0.3152 . intronic . 0.3187 0.3109 0.3251 1.5 14 23866872 MYH6 C G 2 0.000399361 . . . . 0.0006 . intronic . . 0.0005 0.0005 4 14 23866925 MYH6 G C 3 0.0499201 . . . . . . intronic . . . 0.0061 1.5 14 23868285 MYH6 G A 64 0.16873 . MedGen:CN169374 not_specified Benign 0.2590 . intronic . 0.2597 0.2566 0.2606 1.5 14 23869665 MYH6 CA C 1 0.00379393 . . . . 0.0105 . intronic . 0.0118 0.0105 0.0091 1.5 14 23869993 MYH6 G A 26 0.0321486 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0668 synonymous_SNV exonic . 0.0620 0.0639 0.0547 1.5 14 23871753 MYH6 G A 1 0.000199681 4.859 . . . 1.499e-05 nonsynonymous_SNV exonic D . 8.954e-06 . 8.5 14 23871840 MYH6 G T 1 0.00119808 . . . . 0.0066 . intronic\x3bintronic . 0.0060 0.0072 0.0058 4 14 23871909 MYH6 G A 3 0.0423323 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0102 synonymous_SNV exonic . 0.0087 0.0092 0.0061 2.75 14 23871999 MYH6 C T 2 0.0311502 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0006 synonymous_SNV exonic . 0.0007 0.0006 0.0010 2.75 14 23872666 MYH6 T C 159 0.784944 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7624 . intronic . 0.7680 0.7600 0.7593 1.5 14 23873021 MYH6 C T 9 0.0455272 . . . . 0.0377 . intronic . 0.0364 0.0340 0.0294 1.5 14 23873056 MYH6 A C 1 0.00139776 . . . . . . intronic . 0.0047 . 0.0032 4 14 23873092 MYH6 G A 61 0.159145 . . . . . . intronic . . . 0.2573 1.5 14 23873940 MYH6 C T 2 0.00199681 3.478 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0082 nonsynonymous_SNV exonic T 0.0069 0.0080 0.0058 7.25 14 23874364 MYH6 G A 1 0.000199681 . . . . 7.492e-05 . intronic\x3bintronic . 0.0001 9.847e-05 0.0002 6.5 14 23874507 MYH6 G T 27 0.0776757 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1055 synonymous_SNV exonic . 0.1095 0.1041 0.0996 1.5 14 23874523 MYH6 C T 61 0.154353 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2607 synonymous_SNV exonic . 0.2608 0.2581 0.2614 1.5 14 23874541 MYH6 C T 9 0.0571086 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0824 synonymous_SNV exonic . 0.0884 0.0829 0.0862 1.5 14 23874851 MYH6 C T 1 0.00139776 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0056 synonymous_SNV exonic . 0.0051 0.0061 0.0073 6.5 14 23876216 MYH6 G A 9 0.0497204 . MedGen:CN169374 not_specified Benign 0.0298 . intronic . 0.0364 0.0329 0.0297 1.5 14 23876267 MYH6 C T 9 0.0567093 5.156 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0824 nonsynonymous_SNV exonic T 0.0883 0.0829 0.0860 3.5 14 23876347 MYH6 C T 1 0.00419329 3.306 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0003 8.5 14 23881950 MYH7 C T 19 0.0636981 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . UTR3 . . . 0.0754 1.5 14 23882043 MYH7 C T 1 0.00139776 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign 0.0078 . UTR3 . 0.0066 0.0082 0.0079 4 14 23882144 MYH7 T C 81 0.384385 . . . . . . intronic . 0.3705 . 0.3720 1.5 14 23882186 MYH7 T G 72 0.351038 . . . . . . intronic . . . 0.3642 1.5 14 23883184 MYH7 C T 34 0.134984 . MedGen:CN169374 not_specified Benign 0.1570 . intronic . 0.1524 0.1562 0.1659 1.5 14 23883374 MYH7 C T 1 0.00479233 . . . . . . intronic . . . 0.0004 4 14 23883404 MYH7 C G 19 0.0617013 . . . . . . intronic . . . 0.0746 1.5 14 23884137 MYH7 T A 19 0.116813 . . . . . . intronic . . . 0.1213 1.5 14 23884174 MYH7 G T 1 0.000199681 . . . . 0.0002 . intronic . 0.0001 0.0002 0.0002 6.5 14 23884524 MYH7 C A 9 0.0309505 . MedGen:CN169374 not_specified Benign 0.0111 . intronic\x3bintronic . 0.0098 0.0093 0.0071 1.5 14 23884889 MYH7 C T 19 0.117612 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.1175 synonymous_SNV exonic . 0.1317 0.1224 0.1213 1.5 14 23884981 MYH7 C T 1 0.000199681 4.429 . . . 2.998e-05 nonsynonymous_SNV exonic D . 1.791e-05 . 8.5 14 23886010 MHRT G T 1 0.000199681 . . . . . . ncRNA_intronic . . . 0.0003 2.5 14 23886155 MYH7 A G 3 0.0111821 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0086 synonymous_SNV exonic . 0.0067 0.0083 0.0142 1.5 14 23886264 MHRT C T 35 0.136981 . . . . . . ncRNA_intronic . . . 0.1647 -2.5 14 23886409 MYH7 G C 3 0.00519169 3.122 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0105 nonsynonymous_SNV exonic T 0.0115 0.0127 0.0111 4.125 14 23886509 MYH7 G C 1 0.000199681 4.335 . . . 1.503e-05 nonsynonymous_SNV exonic D . 8.976e-06 . 8.5 14 23886597 MHRT C A 1 0.000199681 . . . . . . ncRNA_intronic . . . . 2.5 14 23887645 MYH7 T C 73 0.351238 . MedGen:CN169374 not_specified Benign 0.3662 . intronic . 0.3634 0.3584 0.3612 1.5 14 23888323 MYH7 T TG 73 0.337061 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Uncertain_significance . . intronic . . . 0.3601 1.5 14 23888368 MYH7 C T 1 0.000199681 . . . . 1.498e-05 . intronic . . 8.953e-06 . 6.5 14 23888371 MYH7 G A 2 0.00459265 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0160 . intronic . 0.0135 0.0158 0.0207 1.5 14 23888665 MYH7 A T 73 0.336661 . MedGen:CN169374 not_specified Benign 0.3534 . intronic . 0.3628 0.3553 0.3610 1.5 14 23888671 MYH7 G A 1 0.00179712 . MedGen:CN169374 not_specified Uncertain_significance 0.0054 . intronic . 0.0043 0.0049 0.0055 4 14 23889445 MYH7 T TG 11 0.0403355 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C2751898,OMIM:603829|MedGen:C3495498,OMIM:192600|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Paroxysmal_familial_ventricular_fibrillation_1|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0027 . splicing . . 0.0129 0.0704 2.125 14 23890074 MYH7 G A 2 0.000599042 . . . . . . intronic . . . 0.0005 4 14 23891481 MYH7 C T 2 0.00319489 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0073 synonymous_SNV exonic . 0.0077 0.0093 0.0091 4.625 14 23891496 MYH7 C T 1 0.000199681 3.877 MedGen:CN169374 not_specified Uncertain_significance 4.495e-05 nonsynonymous_SNV exonic D . 8.952e-06 . 8.5 14 23892819 MYH7 G A 2 0.00259585 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0005 synonymous_SNV exonic . . 0.0005 0.0004 4 14 23892879 MYH7 C T 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 5.994e-05 synonymous_SNV exonic . 0.0001 4.476e-05 . 6.5 14 23892888 MYH7 A G 73 0.376398 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.3270 synonymous_SNV exonic . 0.3288 0.3225 0.3257 1.5 14 23892948 MYH7 C A 1 0.000199681 . . . . 1.498e-05 . intronic . . 1.79e-05 . 6.5 14 23892950 MYH7 C T 1 0.0507188 . MedGen:CN169374 not_specified Benign 0.0007 . intronic . 0.0009 0.0008 0.0007 1.5 14 23894051 MYH7 C T 1 0.000199681 7.365 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 2.997e-05 nonsynonymous_SNV exonic D . 3.581e-05 . 13 14 23894291 MYH7 C T 9 0.0301518 . . . . . . intronic . . . 0.0071 1.5 14 23895083 MYH7 T C 29 0.251997 . . . . . . intronic . . . 0.1536 1.5 14 23896823 MYH7 A T 1 0.000199681 5.665 . . . 1.502e-05 nonsynonymous_SNV exonic D . 8.952e-06 . 10.5 14 23897077 MYH7 T C 1 0.0329473 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0005 synonymous_SNV exonic . 0.0009 0.0006 0.0005 1.5 14 23897156 MYH7 G A 3 0.00119808 . . . . . . intronic . . . 0.0032 4 14 23898105 MYH7 C A 1 0.000199681 . . . . . . intronic . . . 0.0001 6.5 14 23898122 MYH7 G C 2 0.000599042 . . . . 0.0008 . intronic . 0.0007 0.0004 0.0002 4 14 23898504 MYH7 C T 1 0.000199681 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C3495498,OMIM:192600|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0002 synonymous_SNV exonic . 0.0001 0.0003 6.67e-05 9 14 23898994 MYH7 G A 9 0.15615 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0794 synonymous_SNV exonic . 0.0867 0.0801 0.0785 1.5 14 23899027 MYH7 C T 35 0.0796725 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.1567 synonymous_SNV exonic . 0.1513 0.1551 0.1635 1.5 14 23899060 MYH7 G A 19 0.0638978 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0779 synonymous_SNV exonic . 0.0795 0.0767 0.0738 1.5 14 23899725 MYH7 A G 9 0.170527 . MedGen:CN169374 not_specified Benign 0.0890 . intronic . 0.0886 0.0832 0.0808 1.5 14 23899793 MYH7 G A 8 0.0145767 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0292 synonymous_SNV exonic . 0.0290 0.0281 0.0232 1.5 14 23900093 MYH7 C T 7 0.0471246 . MedGen:CN169374 not_specified Likely_benign 0.0095 . intronic . 0.0091 0.0080 0.0064 4.5 14 23900794 MYH7 G A 31 0.263778 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.1618 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.1680 0.1604 0.1547 1.5 14 23901012 MYH7 T C 7 0.00579073 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0152 synonymous_SNV exonic . 0.0147 0.0157 0.0127 1.5 14 23901581 MYH7 G T 1 0.033147 . . . . . . intronic . . . 0.0005 1.5 14 23901582 MYH7 G C 19 0.061901 . . . . . . intronic . . . 0.0738 1.5 14 23902269 MYH7 C T 1 0.000998403 . MedGen:CN169374 not_specified Likely_benign 0.0020 . intronic . 0.0023 0.0022 0.0015 4 14 23902753 MYH7 G A 103 0.520367 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.4780 synonymous_SNV exonic . 0.4841 0.4796 0.4778 1.5 14 23902966 MYH7 C G 1 0.000199681 . . . . 1.522e-05 . intronic . . 9.055e-06 . 6.5 14 23902974 MYH7 C A 19 0.0615016 . . . . 0.0791 . intronic . 0.0778 0.0764 0.0739 1.5 14 73614748 PSEN1 G A 1 0.000399361 . MedGen:CN043596|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant Uncertain_significance 7.531e-05 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.0001 9.85e-05 0 6.5 14 73637794 PSEN1 G A 1 0.000998403 . . . . 0.0044 . intronic . 0.0052 0.0041 0.0051 4 14 73664718 PSEN1 T C 21 0.0189696 . . . . 0.0703 . intronic . 0.0523 0.0552 0.0516 1.5 14 73664853 PSEN1 G T 124 0.671526 . MedGen:CN169374 not_specified Benign 0.5730 . intronic . 0.5613 0.5520 0.5399 1.5 14 73673178 PSEN1 A G 3 0.00559105 2.110 Human_Phenotype_Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED_CT:230270009|MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C0236642,OMIM:172700,SNOMED_CT:13092008|MedGen:C1843013,OMIM:607822|MedGen:C3151038,OMIM:613737|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Frontotemporal_dementia|Alzheimer's_disease|Pick's_disease|Alzheimer_disease,_type_3|Acne_inversa,_familial,_3|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0209 nonsynonymous_SNV exonic D 0.0187 0.0186 0.0231 3.5 14 76425507 TGFB3 C G 1 0.000199681 . . . . 1.498e-05 . UTR3 . . 8.954e-06 . 6.5 14 76429868 TGFB3 A G 25 0.146166 . . . . 0.0767 . intronic . 0.0766 0.0761 0.0682 1.5 14 76432117 TGFB3 GC G 25 0.123203 . . . . . . intronic . . . 0.0636 1.5 14 76446886 TGFB3 G A 1 0.000199681 . MedGen:C3553762,OMIM:614816|MedGen:CN169374|MedGen:CN230736 Loeys-Dietz_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0002 synonymous_SNV exonic . 0.0001 7.165e-05 6.665e-05 6.5 14 90863452 CALM1 G T 2 0.00519169 . . . . . . UTR5 . . . 0.0023 0 14 90863488 CALM1 C CA 2 0.000998403 . . . . . . UTR5 . 0.0186 . 0.0009 -2.5 14 90863489 CALM1 G A,GCA 2 0.000998403 . . . . . . UTR5 . . . 0.0009 0 14 90866346 CALM1 C T 121 0.484425 . . . . . . intronic . 0.6245 . 0.6196 -2.5 14 90866350 CALM1 T C 1 0.000199681 . . . . . . intronic . 0.0003 . 0.0004 2.5 14 90870167 CALM1 G A 2 0.000798722 . . . . 0.0037 . intronic . 0.0043 0.0036 0.0032 0 14 90870689 CALM1 A G 1 0.000199681 . . . . 1.524e-05 . intronic . . 9.248e-06 . 2.5 14 90870740 CALM1 C T 1 0.000199681 . MedGen:C3554047,OMIM:614916|MedGen:C4015671,OMIM:616247|MedGen:CN169374|MedGen:CN230736 Ventricular_tachycardia,_catecholaminergic_polymorphic,_4|Long_QT_syndrome_14|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0018 synonymous_SNV exonic . 0.0009 0.0016 0.0009 0 14 90870909 CALM1 T G 3 0.00159744 . . . . 0.0063 . intronic . 0.0052 0.0063 0.0059 0 15 35083378 ACTC1 A G 2 0.0285543 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C2677506,OMIM:612098|MedGen:C2748552,OMIM:612794|MedGen:C3150681,OMIM:613424|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_11|Atrial_septal_defect_5|Dilated_cardiomyopathy_1R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0036 synonymous_SNV exonic . 0.0042 0.0039 0.0039 2.75 15 35083508 LOC101928174 TCACA T 65 0.244808 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . ncRNA_intronic . . . 0.1298 -2.5 15 35084543 LOC101928174 A C 1 0.000199681 . . . . . . ncRNA_intronic\x3bncRNA_intronic . . . . 2.5 15 35084562 LOC101928174 G A 1 0.000199681 . . . . 7.492e-05 . ncRNA_intronic . 0.0001 5.371e-05 . 2.5 15 48703130 FBN1 T C 1 0.019369 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection Likely_benign . . UTR3 . . . 0.0025 -2.5 15 48703579 FBN1 G A 1 0.000199681 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Likely_benign 2.999e-05 . intronic . 0.0001 5.403e-05 . 2.5 15 48712876 FBN1 T G 2 0.0491214 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Benign 0.0102 . intronic . 0.0099 0.0099 0.0082 -2.5 15 48713959 FBN1 A T 1 0.0253594 . . . . . . intronic . . . 0.0026 -2.5 15 48718045 FBN1 C T 1 0.000199681 . . . . 1.5e-05 synonymous_SNV exonic . . 8.975e-06 . 2.5 15 48718098 FBN1 T C 1 0.000399361 . . . . 0.0001 . intronic . 0.0001 0.0001 . 2.5 15 48718120 FBN1 T C 1 0.000399361 . . . . . . intronic . . . . 2.5 15 48719701 FBN1 G T 2 0.0489217 . . . . . . intronic . . . 0.0082 -2.5 15 48720526 FBN1 G C 169 0.65595 . MedGen:CN169374 not_specified Benign 0.7660 . intronic . 0.7771 0.7679 0.7594 -2.5 15 48720652 FBN1 C T 2 0.0509185 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign 0.0149 synonymous_SNV exonic . 0.0172 0.0155 0.0137 -2.5 15 48722884 FBN1 A G 2 0.0511182 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign 0.0149 synonymous_SNV exonic . 0.0172 0.0155 0.0137 -2.5 15 48722887 FBN1 A G 1 0.000199681 . MedGen:CN169374 not_specified Conflicting_interpretations_of_pathogenicity 0.0001 synonymous_SNV exonic . 0.0002 8.961e-05 6.662e-05 2.5 15 48725121 FBN1 T G 2 0.000798722 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0015 synonymous_SNV exonic . 0.0014 0.0012 0.0010 0 15 48725206 FBN1 T A 2 0.0507188 . MedGen:CN169374 not_specified Benign 0.0148 . intronic . 0.0172 0.0154 0.0137 -2.5 15 48726805 FBN1 A C 1 0.000199681 4.877 . . . . nonsynonymous_SNV exonic T . . . 4.5 15 48729619 FBN1 T G 1 0.000199681 . . . . 0 . intronic . . 0 . 2.5 15 48729648 FBN1 T C 200 0.930112 . . . . . . intronic . 0.8866 . 0.8599 -2.5 15 48729950 FBN1 A G 1 0.000199681 . . . . 1.515e-05 . intronic . . 9.005e-06 . 2.5 15 48736684 FBN1 A T 168 0.620807 . . . . . . intronic . . . 0.7431 -2.5 15 48739082 FBN1 C A 2 0.0425319 . . . . . . intronic . . . 0.0139 -2.5 15 48740907 FBN1 A G 1 0.000199681 . . . . . . intronic . . . . 2.5 15 48740936 FBN1 G GA 2 0.0425319 . MedGen:CN169374 not_specified Benign 0.0159 . intronic . 0.0177 0.0156 0.0138 -2.5 15 48744726 FBN1 G A 1 0.000599042 . . . . 0.0007 . intronic . 0.0003 0.0005 0.0003 0 15 48744908 FBN1 AAGG A 2 0.0405351 . . . . 0.0103 . intronic . 0.0102 0.0100 0.0085 -2.5 15 48748913 FBN1 C T 2 0.00259585 . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0071 synonymous_SNV exonic . 0.0086 0.0078 0.0097 0 15 48755434 FBN1 A C 1 0.000199681 4.356 . . . 1.499e-05 nonsynonymous_SNV exonic D . 8.961e-06 . 4.5 15 48755450 FBN1 T TA 2 0.0477236 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Benign 0.0103 . intronic . 0.0103 0.0100 0.0087 -2.5 15 48755472 FBN1 G A 28 0.0467252 . MedGen:CN169374 not_specified Benign 0.0932 . intronic . 0.0932 0.0934 0.0934 0.5 15 48756163 FBN1 G A 1 0.000199681 . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0002 synonymous_SNV exonic . 0.0001 0.0001 . 2.5 15 48756199 FBN1 A G 1 0.000199681 . . . . 4.522e-05 synonymous_SNV exonic . . 2.691e-05 . 2.5 15 48758132 FBN1 A C 36 0.207268 . . . . . . intronic . . . 0.1505 0.5 15 48760067 FBN1 G A 2 0.047524 . . . . . . intronic . . . 0.0086 -2.5 15 48760087 FBN1 G C 1 0.000199681 . . . . 1.5e-05 . intronic . . 9.003e-06 . 2.5 15 48760750 FBN1 T C 2 0.0405351 . MedGen:CN169374 not_specified Benign 0.0103 . intronic . 0.0101 0.0099 0.0085 -2.5 15 48760805 FBN1 C T 1 0.000199681 . . . . . . intronic . . . 0.0035 0 15 48763008 FBN1 A T 15 0.0682907 . . . . . . intronic . . . 0.1400 -2.5 15 48764709 FBN1 A T 1 0.000199681 . . . . 1.499e-05 . intronic . . 1.817e-05 6.699e-05 2.5 15 48764942 FBN1 A G 2 0.110024 . . . . . . intronic . . . 0.0200 -2.5 15 48766737 FBN1 T C 1 0.000199681 0.242 MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic T 0.0001 1.791e-05 . 4.5 15 48779200 FBN1 AATAAC A 47 0.301318 . . . . . . intronic . . . 0.2484 -2.5 15 48779231 FBN1 GTAAAA ATAAAA,G 47 0.196685 . MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374 Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Benign 0.1480 . intronic . 0.1656 0.1539 0.1538 -2.5 15 48779402 FBN1 C T 16 0.196486 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign 0.1481 . intronic . 0.1390 0.1466 0.1557 -2.5 15 48779550 FBN1 G A 1 0.000399361 7.283 Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic D 0.0015 0.0003 6.66e-05 4 15 48779604 FBN1 A T 1 0.000199681 5.592 . . . . nonsynonymous_SNV exonic D . . . 6.5 15 48779649 FBN1 T C 1 0.000399361 . . . . . . intronic . . 0 0 2.5 15 48780504 FBN1 TTAAAGA T 28 0.048722 . . . . . . intronic\x3bintronic . . . 0.0916 -2.5 15 48780551 FBN1 G C 1 0.000199681 . . . . 4.495e-05 . intronic . . 1.79e-05 . 2.5 15 48782072 FBN1 T C 3 0.000599042 2.075 MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic T 0.0003 0.0006 0.0007 2 15 48782151 FBN1 G A 1 0.000199681 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection Likely_benign 2.997e-05 synonymous_SNV exonic . 0.0001 3.581e-05 6.666e-05 2.5 15 48787360 FBN1 G A 1 0.000199681 . . . . 6.01e-05 synonymous_SNV exonic . . 0.0001 0.0001 2.5 15 48787523 FBN1 T C 1 0.00299521 . . . . . . intronic . . . 0.0001 0 15 48787842 FBN1 TA T 2 0.0197684 . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006 Marfan_syndrome Uncertain_significance . . intronic . . . 0.0025 -2.5 15 48788436 FBN1 G C 1 0.000199681 . . . . 1.5e-05 . intronic . . 1.793e-05 0 2.5 15 48789634 FBN1 T C 49 0.378594 . MedGen:CN169374 not_specified Benign 0.2607 . intronic . 0.2427 0.2535 0.2540 -2.5 15 48797146 FBN1 C T 6 0.0756789 . . . . . . intronic . . . 0.0560 0.5 15 48797158 FBN1 T C 1 0.000199681 . . . . . . intronic . . . 0 2.5 15 48797192 FBN1 C T 2 0.0221645 . MedGen:CN169374 not_specified Likely_benign 0.0025 . intronic . 0.0026 0.0029 0.0025 -2.5 15 48797307 FBN1 A G 18 0.296925 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign 0.1511 synonymous_SNV exonic . 0.1420 0.1500 0.1585 -2.5 15 48807637 FBN1 C T 214 1 . MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic . . 1 1 -0.5 15 48818303 FBN1 C A 1 0.000199681 . . . . 0.0002 . intronic . 0.0002 0.0002 0.0003 2.5 15 48826356 FBN1 A G 1 0.000599042 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0012 synonymous_SNV exonic . 0.0008 0.0013 0.0013 0 15 48826428 FBN1 A G 1 0.00579073 . . . . 0 . intronic . . 0 0 0 15 48888508 FBN1 G A 1 0.000399361 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0009 synonymous_SNV exonic . 0.0012 0.0009 0.0027 0 15 48888610 FBN1 T C 11 0.0151757 . . . . 0.0220 . intronic . 0.0235 0.0229 0.0194 -2.5 15 48892427 FBN1 T A 1 0.000199681 4.225 . . . 3.006e-05 nonsynonymous_SNV exonic D . 2.704e-05 . 4.5 15 48892504 FBN1 T C 1 0.00439297 . . . . . . intronic . . . 0.0091 0 15 48902965 FBN1 G A 1 0.000798722 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0062 synonymous_SNV exonic . 0.0070 0.0060 0.0038 0 15 63335907 TPM1 C G 1 0.00419329 . MedGen:CN169374 not_specified Benign 0.0035 synonymous_SNV exonic . . 0.0002 6.676e-05 4 15 63335910 TPM1 G A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 0.0018 synonymous_SNV exonic . . 0.0003 0.0001 4 15 63336099 TPM1 C G 17 0.028754 . . . . . . intronic . . . 0.0782 1.5 15 63340705 TPM1 C T 16 0.210863 . . . . 0.2097 . UTR5 . . 0.1126 0.1194 1.5 15 63349132 TPM1 T A 30 0.126198 . . . . . . intronic . 0.1316 . 0.1311 1.5 15 63351687 TPM1 A G 160 0.861422 . . . . . . intronic . . . 0.8008 1.5 15 63351736 TPM1 G A 1 0.00119808 . MedGen:CN169374 not_specified Uncertain_significance 0.0005 . intronic . 0.0007 0.0004 6.662e-05 4 15 63351840 TPM1 C A 130 0.705671 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.6546 synonymous_SNV exonic . 0.6458 0.6527 0.6548 1.5 15 63351873 TPM1 T C 15 0.0241613 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity 0.0766 synonymous_SNV exonic . 0.0713 0.0719 0.0714 1.5 15 63353451 TPM1 A G 2 0.00259585 . MedGen:CN169374 not_specified Benign 0.0005 synonymous_SNV exonic . 0.0005 0.0006 0.0005 4 15 63353565 TPM1 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 15 63354009 TPM1 G C 4 0.00898562 . MedGen:CN169374 not_specified Likely_benign 0.0139 . intronic . 0.0128 0.0136 0.0118 1.5 15 63356184 TPM1 C T 1 0.000798722 . . . . . . intronic\x3bintronic . . . 0.0001 4 15 63356237 TPM1 C T 3 0.000599042 . MedGen:CN169374 not_specified Uncertain_significance 0.0005 . intronic\x3bintronic . 0.0005 0.0004 0.0003 4 15 63358033 TPM1 T C 1 0.0151757 . . . . . . intronic . . . 0.0018 1.5 15 63362256 TPM1 A G 1 0.000599042 . . . . . . UTR3 . . . 0.0007 4 15 63363401 TPM1 C CATTTT,CATTTTGTTTT 1 0.127396 . . . . 0.5264 . UTR3 . . . 0.5107 1.5 15 63363402 TPM1 G A 72 0.372005 . MedGen:CN169374 not_specified Benign 0.0073 . UTR3 . . 0.0017 0.0099 1.5 15 66679649 MAP2K1 T TC 19 0.147165 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|not_specified Benign/Likely_benign 0.1024 . UTR5 . 0.0874 0.0835 0.0760 -2.5 15 66679798 MAP2K1 C G 2 0.00758786 . . . . 0.0170 . intronic . 0.0140 0.0197 0.0254 -2.5 15 66679819 MAP2K1 G C 21 0.0361422 . . . . . . intronic . . . 0.0861 3.5 15 66679850 MAP2K1 TG T 21 0.0361422 . . . . . . intronic . . . 0.0861 -2.5 15 66679867 MAP2K1 C T 1 0.000199681 . . . . . . intronic . . . . 2.5 15 66727597 MAP2K1 G C 69 0.270767 . MedGen:CN169374 not_specified Benign 0.3230 . intronic . 0.3353 0.3309 0.3237 0.5 15 66729250 MAP2K1 C T 6 0.0191693 . MedGen:CN169374 not_specified Benign 0.0276 . intronic . 0.0236 0.0270 0.0203 -2.5 15 66735551 MAP2K1 C T 193 0.855232 . . . . . . intronic . . . 0.9129 3.5 15 66736922 MAP2K1 G A 2 0.000998403 . . . . . . intronic . . . 0.0047 0 15 66777345 MAP2K1 G A 2 0.00539137 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign 0.0169 synonymous_SNV exonic . 0.0207 0.0178 0.0174 -2.5 15 66779537 MAP2K1 A C 1 0.000199681 . . . . 0.0002 . intronic . . 0.0001 6.663e-05 2.5 15 66779698 MAP2K1 C T 17 0.0900559 . . . . . . intronic . 0.0893 . 0.0890 0.5 15 66782048 MAP2K1 C T 17 0.0892572 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified Benign 0.0863 . intronic . 0.0854 0.0869 0.0887 0.5 15 66782108 MAP2K1 CTATT C 1 0.00119808 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified Benign 0.0032 . intronic . 0.0029 0.0034 0.0031 0 15 73614834 HCN4 T C 202 0.859625 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.9274 synonymous_SNV exonic . 0.9344 0.9315 0.9391 1.5 15 73614974 HCN4 G A 1 0.000199681 4.878 . . . 0 nonsynonymous_SNV exonic D . 2.873e-05 0.0001 8.5 15 73615084 HCN4 G A 1 0.000599042 3.325 MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0058 nonsynonymous_SNV exonic D 0.0009 0.0025 0.0031 6 15 73615097 HCN4 T C 5 0.0081869 -3.599 MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.03 nonsynonymous_SNV exonic T 0.0126 0.0145 0.0120 3.5 15 73615146 HCN4 G A 1 0.0071885 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.0021 synonymous_SNV exonic . 0.0004 0.0004 0.0003 4 15 73615531 HCN4 G A 2 0.000399361 1.536 MedGen:CN169374 not_specified Uncertain_significance 6.128e-05 nonsynonymous_SNV exonic D . 1.344e-05 0 8.5 15 73615786 HCN4 G C 2 0.00339457 0.186 Human_Phenotype_Ontology:HP:0030682,MedGen:C1960469,Orphanet:ORPHA54260,SNOMED_CT:427608000|MedGen:C1834144,OMIM:163800|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Left_ventricular_noncompaction|Sick_sinus_syndrome_2,_autosomal_dominant|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.0118 nonsynonymous_SNV exonic T 0.0132 0.0115 0.0126 3.5 15 73615878 HCN4 C T 8 0.0275559 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.0484 synonymous_SNV exonic . 0.0488 0.0497 0.0476 1.5 15 73615940 HCN4 G A 1 0.000199681 . . . . 3.123e-05 synonymous_SNV exonic . . 1.88e-05 . 6.5 15 73616252 HCN4 C T 1 0.000199681 3.312 MedGen:C2751083,OMIM:613123 Brugada_syndrome_8 Uncertain_significance 0.0001 nonsynonymous_SNV exonic D . 8.234e-05 0 8.5 15 73616635 HCN4 T C 202 0.772963 . MedGen:CN169374 not_specified Benign 0.9242 . intronic . 0.9314 0.9290 0.9345 1.5 15 73617239 HCN4 C T 2 0.00379393 . . . . . . intronic . . . 0.0130 1.5 15 73617250 HCN4 C T 4 0.00778754 . . . . 0.0209 . intronic . 0.0216 0.0208 0.0219 1.5 15 73617804 HCN4 G T 2 0.00339457 . MedGen:CN169374 not_specified Benign 0.0099 . intronic . 0.0145 0.0111 0.0124 1.5 15 73617851 HCN4 C T 1 0.000199681 . . . . . . intronic . . . 0 6.5 15 73621933 HCN4 C T 1 0.000199681 6.335 . . . 1.501e-05 nonsynonymous_SNV exonic D . 1.791e-05 . 10.5 15 73621946 HCN4 G A 21 0.053115 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0937 synonymous_SNV exonic . 0.0910 0.0957 0.1067 1.5 15 73622049 HCN4 C T 1 0.000199681 . MedGen:CN230736 Cardiovascular_phenotype Likely_benign 4.5e-05 synonymous_SNV exonic . . 5.372e-05 0.0001 6.5 15 73622061 HCN4 G A 1 0.000199681 . MedGen:C2751083,OMIM:613123|MedGen:CN169374 Brugada_syndrome_8|not_specified Benign/Likely_benign 4.534e-05 synonymous_SNV exonic . . 3.596e-05 . 6.5 15 73624463 HCN4 C T 1 0.000599042 . MedGen:C2751083,OMIM:613123|MedGen:CN169374 Brugada_syndrome_8|not_specified Conflicting_interpretations_of_pathogenicity 1.501e-05 . intronic . . 8.96e-06 6.67e-05 4 15 73660154 HCN4 T C 1 0.000199681 0.242 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0 nonsynonymous_SNV exonic T . 0.0026 0.0019 6 15 73660505 HCN4 C T 24 0.0249601 2.191 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1222 nonsynonymous_SNV exonic T 0.0508 0.0637 0.0594 3.5 15 73660576 HCN4 G C 2 0.00359425 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.0090 synonymous_SNV exonic . 0.0047 0.0069 0.0063 4 16 30913382 CTF1 C T 1 0.000599042 . . . . 0 . intronic . . 0 . 4 16 30913405 CTF1 C T 1 0.000199681 2.493 . . . . nonsynonymous_SNV exonic T . . . 8.5 16 30913845 CTF1 C G 1 0.00119808 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0097 synonymous_SNV exonic . . 0.0025 0.0017 4 17 8192158 RANGRF C T 1 0.000599042 1.830 MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Uncertain_significance 0.0009 nonsynonymous_SNV exonic T 0.0013 0.0010 0.0005 2 17 8192922 na C T 11 0.141573 . MedGen:CN169374 not_specified Benign 0.0422 . UTR3\x3bUTR3 . 0.0433 0.0388 0.0423 -2.5 17 8192970 RANGRF G A 2 0.00778754 . . . . 0.0187 . UTR3 . 0.0197 0.0181 0.0188 -2.5 17 8192987 RANGRF C A 1 0.000199681 . . . . 1.517e-05 . UTR3 . . . . 2.5 17 37821770 TCAP C T 3 0.0301518 . MedGen:CN169374 not_specified Benign 0.0537 . intronic . 0.0561 0.0571 0.0543 1.5 17 37821927 TCAP G C 4 0.00379393 . . . . 0.0038 . intronic . 0.0029 0.0025 0.0021 5 17 37822174 TCAP C T 2 0.00838658 6.733 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1843791,OMIM:607487|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1N|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0039 nonsynonymous_SNV exonic D 0.0042 0.0042 0.0038 10.5 17 37822311 TCAP A C 149 0.54972 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.7255 synonymous_SNV exonic . 0.7122 0.7262 0.7038 7.5 17 39911975 JUP G T 1 0.00159744 . MedGen:CN169374 not_specified Benign 0.0029 . UTR3 . 0.0035 0.0028 0.0025 4 17 39912145 JUP T A 155 0.58726 1.242 MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.7291 nonsynonymous_SNV exonic T 0.7391 0.7357 0.7421 3.5 17 39912581 JUP A G 160 0.636581 . . . . . . intronic . . . 0.7693 1.5 17 39912590 JUP G A 3 0.000798722 . . . . . . intronic . . . 0.0015 4 17 39913645 JUP T C 155 0.717252 . MedGen:CN169374 not_specified Benign 0.7393 . intronic . 0.7456 0.7450 0.7532 1.5 17 39913826 JUP G A 1 0.00279553 . . . . 0.0007 . intronic\x3bintronic . 0.0001 0.0006 0.0004 4 17 39914070 JUP G T 155 0.638978 . MedGen:CN169374 not_specified Benign 0.7360 . intronic . 0.7430 0.7405 0.7494 1.5 17 39915057 JUP T C 1 0.00239617 . MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0064 synonymous_SNV exonic . 0.0042 0.0050 0.0116 1.5 17 39919367 JUP G A 1 0.00119808 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0001 synonymous_SNV exonic . . 0.0001 6.672e-05 4 17 39923614 JUP A G 177 0.744209 . MedGen:CN169374 not_specified Benign 0.8096 . intronic . 0.8084 0.8138 0.8146 1.5 17 39925713 JUP C T 14 0.0239617 7.586 MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0630 nonsynonymous_SNV exonic T 0.0581 0.0563 0.0671 3.5 17 39925925 JUP A G 174 0.715655 . MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.7622 synonymous_SNV exonic . 0.7552 0.7581 0.7567 1.5 17 48243312 SGCA C A 4 0.00459265 . . . . . . upstream . . . 0.0110 1.5 17 48243323 SGCA C T 1 0.00139776 . . . . . . upstream . . . 0 4 17 48243461 SGCA G A 12 0.0283546 . MedGen:CN169374 not_specified Likely_benign 0.0694 . intronic . 0.0627 0.0692 0.0713 1.5 17 48243504 SGCA C T 214 0.988618 . . . . 0.9998 . intronic . 0.9997 0.9998 0.9998 1.5 17 48244683 SGCA G C 3 0.0081869 . MedGen:CN169374 not_specified Benign 0.0087 . intronic . 0.0067 0.0085 0.0090 4 17 48244932 SGCA G A 1 0.00159744 . MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2D|not_specified Conflicting_interpretations_of_pathogenicity 0.0019 . intronic . 0.0014 0.0020 0.0013 4 17 48245269 SGCA C A 19 0.122404 . MedGen:CN169374 not_specified Benign 0.1414 . intronic . 0.1379 0.1437 0.1498 1.5 17 48245324 SGCA G A 1 0.000798722 6.470 MedGen:CN169374 not_specified Benign 0.0010 nonsynonymous_SNV exonic D 0.0005 0.0008 0.0001 8 17 48245770 SGCA C A 1 0.00139776 2.670 MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2D|not_specified Conflicting_interpretations_of_pathogenicity 0.0019 nonsynonymous_SNV exonic D 0.0007 0.0008 0.0005 6 17 48247689 SGCA C T 7 0.0786741 . MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2D|not_specified Benign/Likely_benign 0.0381 synonymous_SNV exonic . 0.0416 0.0388 0.0406 1.5 17 48247996 SGCA C T 1 0.000199681 . . . . 0 . intronic . . 0 . 6.5 17 48248083 SGCA C A 1 0.00179712 . . . . . . intronic . 0.0057 . 0.0155 1.5 17 48252804 SGCA T C 207 0.921925 . MedGen:CN169374 not_specified Benign 0.9620 . UTR3 . 0.9589 0.9611 0.959 1.5 17 68172326 KCNJ2 C T 24 0.153954 . MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED_CT:422348008|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736 Andersen_Tawil_syndrome|short_QT_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype Benign 0.1167 synonymous_SNV exonic . 0.1186 0.1172 0.1124 1.5 17 78078341 GAA T G 1 0.00279553 . Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|MeSH:D030342,MedGen:C0950123|MedGen:C0017919,Orphanet:ORPHA79201,SNOMED_CT:29633007|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202|MedGen:CN568813 Myopathy|Inborn_genetic_diseases|Glycogen_storage_disease|Glycogen_storage_disease,_type_II|not_provided|Glycogen_storage_disease_II,_adult_form Pathogenic 0.0053 . intronic . 0.0057 0.0053 0.0052 0 17 78078656 GAA G A 1 0.0115815 4.921 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C1847465|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|Acid_alpha-glucosidase,_allele_2|not_specified|not_provided other 0.0317 nonsynonymous_SNV exonic T 0.0315 0.0327 0.0350 -0.5 17 78078709 GAA T C 166 0.714457 . Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Ciliary_dyskinesia|Glycogen_storage_disease,_type_II|not_specified|not_provided Benign 0.7654 synonymous_SNV exonic . 0.7490 0.7563 0.7533 0.5 17 78078832 GAA G A 1 0.00958466 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity 0.0041 synonymous_SNV exonic . 0.0038 0.0046 0.0059 0 17 78079481 GAA C G 165 0.602436 . . . . . . intronic . . . 0.7401 0.5 17 78079509 GAA T G 165 0.605631 . MedGen:CN169374 not_specified Benign 0.7446 . intronic . 0.7352 0.7398 0.7392 -2.5 17 78079544 GAA C G 165 0.602835 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7456 . intronic . 0.7384 0.7402 0.7400 0.5 17 78079597 GAA A G 165 0.600839 -1.974 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7455 nonsynonymous_SNV exonic T 0.7383 0.7402 0.7399 2.5 17 78079643 GAA C T 52 0.10603 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign 0.2307 synonymous_SNV exonic . 0.22 0.2254 0.2138 -2.5 17 78079669 GAA G A 165 0.602436 1.133 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.7460 nonsynonymous_SNV exonic T 0.7381 0.7402 0.7398 2.5 17 78081307 GAA C T 20 0.0870607 . MedGen:CN169374 not_specified Benign 0.0654 . intronic . 0.0719 0.0657 0.0713 -2.5 17 78081515 GAA G A 4 0.00239617 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.0107 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.0120 0.0102 0.0095 -2.5 17 78081526 GAA AGCGGCGG AGCAGCGGGCGGCGG 164 0.592851 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign 0.7440 . intronic\x3bintronic . . 0.7360 0.7304 -2.5 17 78081551 GAA T C 164 0.601038 . MedGen:CN169374 not_specified Benign 0.7446 . intronic\x3bintronic . 0.7315 0.7313 0.7298 -2.5 17 78081655 GAA G A 1 0.000399361 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity 0.0016 synonymous_SNV exonic . 0.0015 0.0018 0.0016 0 17 78081661 GAA A T 20 0.110224 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.0687 synonymous_SNV exonic . 0.0719 0.0656 0.0713 -2.5 17 78081707 GAA G A 165 0.604433 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7978 . intronic . 0.7545 0.7644 0.7398 -2.5 17 78081786 GAA C T 1 0.000199681 . . . . . . intronic . . . . 2.5 17 78082221 GAA C T 2 0.00519169 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0152 . intronic\x3bintronic . 0.0166 0.0162 0.0136 -2.5 17 78082504 GAA G A 164 0.602835 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7474 synonymous_SNV exonic . 0.7380 0.7401 0.7392 -2.5 17 78083726 GAA A G 165 0.711661 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7619 . intronic . 0.7486 0.7547 0.7528 0.5 17 78083791 GAA C T 20 0.0982428 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.0658 synonymous_SNV exonic . 0.0715 0.0657 0.0712 -2.5 17 78084459 GAA T C 2 0.000399361 . . . . . . intronic . . . . 2.5 17 78084507 GAA G C 164 0.603035 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7454 . intronic . 0.7379 0.7399 0.7392 -2.5 17 78084688 GAA C A 164 0.599241 . MedGen:CN169374 not_specified Benign 0.7454 . intronic\x3bintronic . 0.7380 0.7400 0.7392 0.5 17 78084727 GAA G A 1 0.00279553 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity 0.0040 . intronic . 0.0040 0.0045 0.0059 0 17 78084769 GAA G A 59 0.159545 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.2751 synonymous_SNV exonic . 0.2816 0.2765 0.2704 3.5 17 78084887 GAA G A 1 0.000199681 . . . . . . intronic . . . . 2.5 17 78085710 GAA T G 1 0.00339457 . . . . . . intronic . . . 0 0 17 78085911 GAA G A 5 0.063099 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.0624 . intronic . 0.0628 0.0656 0.0661 -2.5 17 78086531 GAA G A 9 0.0778754 . MedGen:CN169374 not_specified Benign 0.0543 . intronic . 0.0313 0.0403 0.0469 -2.5 17 78086846 GAA A G 166 0.715056 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7704 . intronic . 0.7513 0.7547 0.7524 0.5 17 78086869 GAA A C 4 0.0463259 . . . . 3.598e-05 . intronic . . 0.0001 . -2.5 17 78086892 GAA C T 6 0.0638978 . . . . . . intronic . . . 0.0703 -2.5 17 78086895 GAA A G 6 0.0621006 . . . . . . intronic . . . 0.0706 -2.5 17 78086953 GAA G A 67 0.228035 . . . . . . intronic . . . 0.3127 -2.5 17 78087041 GAA G A 9 0.0780751 2.321 .|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Acid_alpha-glucosidase,_allele_4|Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity,_other 0.0675 nonsynonymous_SNV exonic T 0.0348 0.0385 0.0470 -0.5 17 78087109 GAA A G 71 0.241613 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.3708 synonymous_SNV exonic . 0.2793 0.2879 0.2959 -2.5 17 78090928 GAA G A 166 0.789337 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7669 . intronic . 0.7530 0.7581 0.7546 0.5 17 78090932 GAA T C 14 0.207069 . MedGen:CN169374 not_specified Likely_benign 0.1187 . intronic . 0.1056 0.1168 0.1239 -2.5 17 78091359 GAA C G 2 0.00259585 . . . . 0.0069 . intronic . 0.0060 0.0072 0.0065 0 17 78091405 GAA G A 165 0.711861 -0.394 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7645 nonsynonymous_SNV exonic T 0.7499 0.7566 0.7527 2.5 17 78091929 GAA C T 1 0.000199681 . . . . . . intronic . . . 0 2.5 17 78092063 GAA G A 151 0.509385 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.6465 synonymous_SNV exonic . 0.6427 0.6386 0.6279 3.5 17 78092195 GAA G A 1 0.00199681 . MedGen:CN517202 not_provided Likely_benign 0.0049 . intronic . 0.0045 0.0049 0.0080 0 17 78092211 GAA G T 2 0.00219649 . MedGen:CN517202 not_provided Likely_benign . . intronic . . . 0.0078 0 17 78093011 GAA G A 1 0.0145767 . . . . . . intronic . 0.0057 . 0.0062 -2.5 17 78093221 GAA G A 22 0.120008 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002 Glycogen_storage_disease,_type_II Likely_benign . . UTR3 . . . 0.0785 0.5 18 3067195 MYOM1 C T 1 0.000199681 . . . . . . UTR3 . . . . 2.5 18 3067278 MYOM1 A G 97 0.594449 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.5350 synonymous_SNV exonic . 0.4664 0.4685 0.4680 -2.5 18 3067599 MYOM1 A G 26 0.0694888 . . . . 0.0810 . intronic . 0.0816 0.0839 0.0745 -2.5 18 3075503 MYOM1 C CAAA 212 0.992612 . . . . 0.9942 . intronic . 0.9933 0.9933 0.9926 -2.5 18 3075504 MYOM1 G A 1 0.00339457 . . . . . . intronic . . 0.0227 . -2.5 18 3075554 MYOM1 T C 21 0.193291 . . . . . . intronic . 0.1216 . 0.1261 -2.5 18 3075712 MYOM1 C A 98 0.622804 . MedGen:CN169374 not_specified Benign 0.4972 . intronic . 0.4632 0.4549 0.4613 -2.5 18 3075746 MYOM1 G A 31 0.183506 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2178 synonymous_SNV exonic . 0.1697 0.1666 0.1958 -2.5 18 3075778 MYOM1 A C 31 0.183506 . . . . 0.2071 . intronic . 0.1614 0.1681 0.1960 -2.5 18 3075872 MYOM1 C G 31 0.174121 . . . . . . intronic . . . 0.1957 -2.5 18 3083922 MYOM1 A C 4 0.00279553 . . . . 0.0089 . intronic\x3bintronic . 0.0044 0.0036 0.0033 1 18 3084152 MYOM1 C T 200 0.863019 . . . . . . intronic . . . 0.9297 -2.5 18 3085165 MYOM1 C T 2 0.000399361 . . . . 0.0001 . intronic . . 8.304e-05 6.832e-05 2.5 18 3086065 MYOM1 C T 10 0.0521166 5.971 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0783 nonsynonymous_SNV exonic T 0.0716 0.0792 0.0798 -0.5 18 3089123 MYOM1 CTATTT C 10 0.0696885 . . . . 0.0829 . intronic . 0.0724 0.0823 0.0798 -2.5 18 3089522 MYOM1 G T 173 0.800319 . MedGen:CN169374 not_specified Benign 0.8049 . intronic . 0.7970 0.7995 0.8176 -2.5 18 3089677 MYOM1 A G 3 0.00279553 . . . . . . intronic . . . 0.0070 0 18 3090661 MYOM1 C T 1 0.000199681 6.060 . . . 2.998e-05 nonsynonymous_SNV exonic T . 1.791e-05 . 4.5 18 3094131 MYOM1 A G 13 0.01877 . . . . 0.0202 . intronic . 0.0215 0.0198 0.0180 -2.5 18 3100051 MYOM1 T C 205 0.913339 . . . . . . intronic . . . 0.9187 -2.5 18 3100429 MYOM1 G A 109 0.348043 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.4710 . intronic . 0.4470 0.4467 0.4390 -2.5 18 3102499 MYOM1 C T 1 0.000399361 6.258 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity 0.0004 nonsynonymous_SNV exonic D 0.0005 0.0002 0.0002 4 18 3102674 MYOM1 A G 1 0.000199681 . . . . 6.055e-05 . intronic . . 6.629e-05 0.0001 2.5 18 3112230 MYOM1 A C 1 0.000199681 . . . . . . intronic . . . . 2.5 18 3112231 MYOM1 G C 135 0.596046 . . . . . . intronic . . . 0.5853 -2.5 18 3112252 MYOM1 C A 39 0.0810703 . . . . 0.1850 . intronic . 0.1805 0.1816 0.1793 -2.5 18 3120060 MYOM1 G A 178 0.852436 . . . . . . intronic . . . 0.7968 -2.5 18 3126632 MYOM1 C T 146 0.813698 . . . . . . intronic . . . 0.6976 -2.5 18 3126811 MYOM1 A G 32 0.254393 0.079 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1523 nonsynonymous_SNV exonic T 0.1415 0.1432 0.1403 -0.5 18 3129535 MYOM1 C T 3 0.00199681 . . . . 0.0051 . intronic . 0.0042 0.0050 0.0039 0 18 3134610 MYOM1 A G 34 0.238019 . . . . 0.1577 . intronic . 0.1403 0.1511 0.1475 -2.5 18 3134826 MYOM1 A C 3 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0139 . intronic . 0.0136 0.0140 0.0159 -2.5 18 3135644 MYOM1 C T 1 0.00239617 7.909 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0064 nonsynonymous_SNV exonic T 0.0039 0.0051 0.0125 -0.5 18 3142040 MYOM1 G A 2 0.000399361 7.299 . . . 3.016e-05 nonsynonymous_SNV exonic D . 1.794e-05 . 6.5 18 3164385 MYOM1 C T 54 0.16873 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2406 synonymous_SNV exonic . 0.2072 0.2097 0.1874 -2.5 18 3168816 MYOM1 G A 45 0.282149 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2619 synonymous_SNV exonic . 0.2648 0.2633 0.2740 -2.5 18 3173873 MYOM1 G A 60 0.315895 . . . . . . intronic . 0.3240 . 0.3214 -2.5 18 3173964 MYOM1 G A 60 0.316094 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3103 synonymous_SNV exonic . 0.3157 0.3126 0.3221 -2.5 18 3174018 MYOM1 C T 40 0.192292 . . . . 0.2474 . intronic . 0.2582 0.2517 0.2667 -2.5 18 3174056 MYOM1 C A 60 0.315695 . . . . . . intronic\x3bintronic . 0.3240 . 0.3206 -2.5 18 3174064 MYOM1 G T 40 0.191893 . . . . . . intronic\x3bintronic . 0.2652 . 0.2669 -2.5 18 3174076 MYOM1 A AAC 40 0.233427 . . . . 0.2490 . intronic\x3bintronic . 0.2591 0.2526 0.2682 -2.5 18 3174084 MYOM1 C CAT 20 0.0810703 . . . . 0.0610 . intronic\x3bintronic . 0.0564 0.0595 0.0536 -2.5 18 3174238 MYOM1 G A 7 0.00958466 . . . . 0.0310 . intronic . 0.0269 0.0297 0.0245 -2.5 18 3176017 MYOM1 C T 39 0.191693 . . . . 0.2501 . intronic . 0.2556 0.2417 0.2665 -2.5 18 3176040 MYOM1 C G 138 0.757188 -1.049 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.7042 nonsynonymous_SNV exonic T 0.7156 0.7079 0.7326 -0.5 18 3176063 MYOM1 C T 59 0.273163 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3057 synonymous_SNV exonic . 0.3116 0.3079 0.3207 -2.5 18 3176190 MYOM1 A AACACACACAT 20 0.0808706 . . . . . . intronic . . . . -2.5 18 3188715 MYOM1 T C 16 0.0898562 . . . . 0.0854 . intronic . 0.0573 0.0539 0.0461 -2.5 18 3188778 MYOM1 C T 2 0.00219649 5.491 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0059 nonsynonymous_SNV exonic T 0.0056 0.0062 0.0047 2 18 3188857 MYOM1 A G 16 0.0894569 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0577 synonymous_SNV exonic . 0.0589 0.0557 0.0462 -2.5 18 3188873 MYOM1 G A 16 0.0716853 0.500 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0573 nonsynonymous_SNV exonic T 0.0586 0.0553 0.0458 -0.5 18 3188927 MYOM1 G A 2 0.00379393 -0.419 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign 0.0011 nonsynonymous_SNV exonic T 0.0008 0.0010 0.0005 2 18 3188976 MYOM1 A G 67 0.443291 2.095 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.4155 nonsynonymous_SNV exonic T 0.4153 0.4177 0.4448 -0.5 18 3214918 MYOM1 G C 34 0.286142 . MedGen:CN169374 not_specified Benign 0.2851 . intronic . 0.2615 0.2774 0.2847 -2.5 18 3215004 MYOM1 G A 1 0.000199681 1.311 . . . . nonsynonymous_SNV exonic T . . . 4.5 18 3215030 MYOM1 C A 9 0.0730831 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0652 synonymous_SNV exonic . 0.0565 0.0642 0.0665 -2.5 18 3215083 MYOM1 T C 1 0.00259585 2.576 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0059 nonsynonymous_SNV exonic T 0.0025 0.0052 0.0125 -0.5 18 3215131 MYOM1 G T 2 0.013778 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0174 synonymous_SNV exonic . 0.0127 0.0154 0.0171 -2.5 18 3215156 MYOM1 C G 11 0.128994 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0979 synonymous_SNV exonic . 0.0858 0.0915 0.0930 -2.5 18 3215158 MYOM1 C G 11 0.127995 1.149 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0984 nonsynonymous_SNV exonic T 0.0859 0.0915 0.0930 -0.5 18 3215230 MYOM1 C T 55 0.335663 . MedGen:CN169374 not_specified Benign 0.2652 . UTR5 . 0.2245 0.2252 0.2306 -2.5 18 9102713 NDUFV2 G A 1 0.000199681 . . . . 6.274e-05 . UTR5 . . 1.314e-05 0 6.5 18 9102738 NDUFV2 C T 1 0.000199681 . . . . 5.679e-05 . UTR5 . . 2.34e-05 . 6.5 18 9117867 NDUFV2 T C 179 0.778954 0.840 MedGen:C1838867,OMIM:556500|MedGen:C1838979,OMIM:252010|MedGen:CN169374 Parkinson_disease,_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified Benign 0.8157 nonsynonymous_SNV exonic T 0.8194 0.8155 0.8134 3.5 18 9119489 NDUFV2 A T 19 0.0750799 . MedGen:C1838979,OMIM:252010|MedGen:CN169374 Mitochondrial_complex_I_deficiency|not_specified Likely_benign 0.1029 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.1129 0.1060 0.0999 1.5 18 9124799 na CT C 142 0.630391 . . . . . . ncRNA_intronic . . . 0.5882 -2.5 18 9124909 NDUFV2 C G 1 0.000199681 5.999 . . . 3.022e-05 nonsynonymous_SNV exonic T . 5.374e-05 6.682e-05 8.5 18 9126856 NDUFV2 G T 1 0.000199681 14.347 . . . 1.501e-05 stopgain exonic . . 8.956e-06 . 11.5 18 9134344 na T C 1 0.00339457 . . . . . . ncRNA_intronic . . . 0.0099 0 18 9134354 na C G 19 0.0754792 . MedGen:C1838979,OMIM:252010 Mitochondrial_complex_I_deficiency Likely_benign . . ncRNA_intronic . . . 0.0998 -2.5 18 19358240 MIB1 G C 6 0.0071885 . . . . . . intronic . . . 0.0334 -2.5 18 19418264 MIB1 A G 1 0.000199681 . . . . . . intronic . . . 0 2.5 18 19423003 MIB1 T C 20 0.0872604 . . . . . . intronic . . . 0.0738 -2.5 18 19427096 MIB1 A G 20 0.0878594 . MedGen:C3554496,OMIM:615092|MedGen:CN169374 Left_ventricular_noncompaction_7|not_specified Benign 0.0936 . intronic . 0.0848 0.0838 0.0745 -2.5 18 19429173 MIB1 C T 1 0.000199681 7.064 . . . 1.507e-05 nonsynonymous_SNV exonic T . 9.844e-06 . 4.5 18 19444661 MIB1 A C 20 0.0856629 . . . . 0.0805 . UTR3 . 0.0815 0.0793 0.0720 -2.5 18 28647935 DSC2 T A 1 0.00519169 . MedGen:CN239181 Cardiomyopathy,_ARVC Likely_benign 0.0036 . UTR3 . . 0.0029 0.0043 4 18 28647996 DSC2 T C 1 0.000199681 . . . . 0 synonymous_SNV exonic . . 0 . 6.5 18 28647999 DSC2 T TTC 2 0.00359425 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Benign 0.0122 frameshift_insertion exonic . 0.0134 0.0132 0.0171 7.125 18 28648200 DSC2 C T 18 0.0199681 . . . . 0.0538 . intronic\x3bintronic . 0.0607 0.0592 0.0586 1.5 18 28648975 DSC2 C T 9 0.0275559 0.324 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0540 nonsynonymous_SNV exonic T 0.0452 0.0517 0.0521 3.5 18 28649042 DSC2 T C 15 0.196486 -1.683 MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0842 nonsynonymous_SNV exonic T 0.0837 0.0837 0.0794 3.5 18 28649144 DSC2 G T 2 0.00579073 . . . . 0.0191 . intronic . 0.0186 0.0200 0.0233 1.5 18 28649166 DSC2 A G 10 0.0611022 . MedGen:CN169374 not_specified Benign 0.0556 . intronic . 0.0498 0.0546 0.0477 1.5 18 28650748 DSC2 A C 1 0.000599042 0.742 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0020 nonsynonymous_SNV exonic T 0.0013 0.0023 0.0024 8.5 18 28654750 DSC2 G A 1 0.00219649 4.177 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic T 0.0013 0.0013 0.0005 6 18 28660379 DSC2 G A 1 0.000199681 . . . . . . intronic . . . 0.0001 6.5 18 28666526 DSC2 T TTAA 214 0.996006 . MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 1.0000 . intronic . 1 1.0000 1 1.5 18 28666646 DSC2 G A 1 0.000199681 5.339 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN517202 Cardiomyopathy|not_provided Conflicting_interpretations_of_pathogenicity 7.497e-05 nonsynonymous_SNV exonic T 0.0001 6.27e-05 . 8.5 18 28669387 DSC2 C T 1 0.000399361 . . . . 1.5e-05 . intronic . . 8.959e-06 . 6.5 18 28669470 DSC2 C A 1 0.000199681 2.982 . . . 1.5e-05 nonsynonymous_SNV exonic T . 8.957e-06 . 8.5 18 28670946 DSC2 G C 1 0.00439297 . . . . 0.0117 . intronic . 0.0124 0.0130 0.0170 1.5 18 28671068 DSC2 C T 1 0.000599042 0.476 . . . 6.066e-05 nonsynonymous_SNV exonic T . 5.381e-05 0 6 18 28671130 DSC2 A G 1 0.000199681 . . . . 1.57e-05 . intronic . . 9.05e-06 . 6.5 18 28672067 DSC2 T C 3 0.00379393 . MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0127 synonymous_SNV exonic . 0.0117 0.0125 0.0151 1.5 18 28673565 DSC2 T C 25 0.123602 . MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.1111 synonymous_SNV exonic . 0.1210 0.1129 0.1185 1.5 18 29078121 DSG2 G C 1 0.00738818 . MedGen:CN239181|MedGen:CN239310 Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Likely_benign . . UTR5 . . . 0.0043 4 18 29078160 DSG2 G C 1 0.000399361 . MedGen:CN239181|MedGen:CN239310 Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Uncertain_significance . . UTR5 . . . 0.0027 4 18 29078333 DSG2 C G 7 0.0189696 . . . . . . intronic . . . 0.0168 1.5 18 29098253 DSG2 G T 1 0.000199681 . . . . 0.0003 . intronic . . 0.0003 0.0002 6.5 18 29098254 DSG2 A G 1 0.000199681 . . . . 0.0003 . intronic . . 0.0003 0.0002 6.5 18 29098323 DSG2 G A 73 0.369209 . . . . . . intronic . . . 0.3881 1.5 18 29098345 DSG2 C T 43 0.219848 . . . . . . intronic . . . 0.2721 1.5 18 29099850 DSG2 G A 1 0.000199681 5.774 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1857777,OMIM:610193|MedGen:C2752072,OMIM:612877|MedGen:C4053736,OMIM:604772|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|Dilated_cardiomyopathy_1BB|Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity,_risk_factor 0.0028 nonsynonymous_SNV exonic T 0.0035 0.0032 0.0023 6 18 29101010 DSG2 G A 1 0.000599042 . . . . . . intronic . 0.0013 . 0.0007 4 18 29101230 DSG2 T A 31 0.141374 . MedGen:CN169374 not_specified Benign 0.1127 . intronic . 0.0699 0.1085 0.1114 1.5 18 29104564 DSG2 C A 44 0.211462 . MedGen:CN169374 not_specified Benign 0.2552 . intronic . 0.2609 0.2574 0.2649 1.5 18 29104632 DSG2 A T 1 0.000399361 . . . . 0.0001 . intronic . 0.0002 0.0002 0.0003 6.5 18 29104698 DSG2 C T 74 0.526558 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3687 synonymous_SNV exonic . 0.3787 0.3718 0.3792 1.5 18 29104714 DSG2 A G 23 0.0323482 3.997 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0887 nonsynonymous_SNV exonic T 0.0859 0.0869 0.0929 3.5 18 29104878 DSG2 G A 44 0.216254 . MedGen:CN169374 not_specified Benign 0.2574 . intronic . 0.2614 0.2602 0.2658 1.5 18 29116462 DSG2 T C 33 0.14357 . . . . . . intronic . . . 0.1155 1.5 18 29122618 DSG2 G A 14 0.0259585 1.194 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0739 nonsynonymous_SNV exonic T 0.0777 0.0748 0.0842 3.5 18 29122799 DSG2 G A 41 0.240016 2.152 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2565 nonsynonymous_SNV exonic T 0.2540 0.2551 0.2602 3.5 18 29125854 DSG2 A G 29 0.197484 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1076 synonymous_SNV exonic . 0.1076 0.1063 0.1080 1.5 18 29126108 DSG2 T G 4 0.00319489 3.890 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0047 nonsynonymous_SNV exonic T 0.0050 0.0047 0.0047 7 18 29126592 DSG2 C T 1 0.0103834 . MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0051 synonymous_SNV exonic . 0.0040 0.0050 0.0043 1.5 18 29126670 DSG2 T C 74 0.542931 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3705 synonymous_SNV exonic . 0.3777 0.3733 0.3807 1.5 18 29171787 TTR C T 1 0.000399361 . . . . . . UTR5 . . . . 6.5 18 29172865 TTR G A 9 0.0233626 -0.088 .|MedGen:CN169374|MedGen:CN230736 TRANSTHYRETIN_POLYMORPHISM|not_specified|Cardiovascular_phenotype Benign 0.0709 nonsynonymous_SNV exonic T 0.0780 0.0728 0.0812 3.5 18 29178513 TTR G C 10 0.0660942 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign 0.0353 . intronic . 0.0383 0.0363 0.0442 1.5 18 32335915 DTNA A G 19 0.0479233 . MedGen:CN169374 not_specified Benign 0.0835 . intronic . 0.0780 0.0825 0.0878 1.5 18 32374062 DTNA G A 2 0.00139776 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1858725,OMIM:604169|MedGen:CN169374 Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Left_ventricular_noncompaction_1|not_specified Benign/Likely_benign 0.0070 synonymous_SNV exonic . 0.0087 0.0086 0.0081 4 18 32386101 DTNA C A 23 0.152356 . . . . . . intronic . . . 0.1285 1.5 18 32386125 DTNA T C 35 0.1248 . . . . . . intronic . 0.1116 . 0.1177 1.5 18 32386340 DTNA T C 23 0.152356 . . . . . . intronic . . . 0.1285 1.5 18 32398330 DTNA G C 1 0.000199681 . . . . 1.74e-05 . UTR5\x3bUTR5 . . 9.444e-06 . 6.5 18 32400909 DTNA AC A 22 0.114617 . . . . 0.1093 . intronic\x3bintronic . 0.1147 0.1120 0.1290 1.5 18 32407495 DTNA G A 2 0.000399361 . . . . . . intronic . . . 0.0009 4 18 32408892 DTNA A G 3 0.00758786 . . . . . . intronic . . . 0.0147 1.5 18 32408900 DTNA T C 63 0.229633 . . . . . . intronic . . . 0.2638 1.5 18 32408968 DTNA C A 1 0.000599042 . . . . 0.0014 . intronic . 0.0011 0.0016 0.0015 4 18 32418186 DTNA T A 63 0.204073 . . . . 0.2563 . intronic . 0.2615 0.2592 0.2637 1.5 18 32418189 DTNA A G 2 0.0361422 . . . . . . intronic . 0.0003 . 0.0003 1.5 18 32418634 DTNA T A 20 0.0553115 . . . . . . intronic . . . 0.1282 1.5 18 32418771 DTNA A C 1 0.000199681 2.223 . . . . nonsynonymous_SNV exonic T . . . 8.5 18 32444040 DTNA G A 77 0.29373 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374 Left_ventricular_noncompaction_cardiomyopathy|not_specified Benign 0.3944 . intronic . 0.3304 0.3339 0.3532 1.5 18 32455379 DTNA T C 30 0.128195 . MedGen:CN169374 not_specified Benign 0.1218 . intronic . 0.1264 0.1216 0.1417 1.5 18 32459584 DTNA C G 1 0.000199681 3.167 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.952e-06 . 8.5 18 32459697 DTNA G A 3 0.00559105 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1858725,OMIM:604169|MedGen:CN169374 Cardiomyopathy|Left_ventricular_noncompaction_1|not_specified Benign 0.0102 . intronic . 0.0105 0.0098 0.0189 1.5 18 32459704 DTNA A G 53 0.262181 . . . . 0.2207 . intronic . 0.2241 0.2198 0.2124 1.5 18 32470291 DTNA G A 48 0.266973 2.442 MedGen:CN169374 not_specified Benign 0.2485 nonsynonymous_SNV exonic . . 0.2083 0.1994 3.5 18 32470459 DTNA C T 45 0.155551 . . . . . . UTR3 . . . 0.1937 1.5 18 33935432 FHOD3 G A 1 0.000399361 . . . . . . intronic . . . 0.0003 6.5 18 33952806 FHOD3 C A 1 0.000199681 . . . . . . intronic . . . 6.662e-05 6.5 18 34081849 FHOD3 A G 77 0.225439 . . . . 0.4274 . intronic . 0.4057 0.4242 0.4410 1.5 18 34092327 FHOD3 G C 15 0.0934505 . . . . . . intronic . . . 0.0644 1.5 18 34156497 FHOD3 A G 1 0.0660942 0.448 . . . 0.0051 nonsynonymous_SNV exonic T 0.0043 0.0053 0.0051 3.5 18 34182800 FHOD3 A G 73 0.257188 . . . . . . intronic . . . 0.3022 1.5 18 34191954 FHOD3 G A 1 0.000199681 3.056 . . . 0 nonsynonymous_SNV exonic T . 0 . 8.5 18 34205415 FHOD3 T C 30 0.128195 . . . . . . intronic . . . 0.1417 1.5 18 34205551 FHOD3 C T 14 0.0872604 2.410 . . . 0.0594 synonymous_SNV exonic . 0.0604 0.0583 0.0555 1.5 18 34232543 FHOD3 G A 7 0.0165735 -0.091 . . . 0.0383 nonsynonymous_SNV exonic . . 0.0274 0.0249 3.5 18 34232610 FHOD3 C T 57 0.319489 1.357 . . . 0.3083 nonsynonymous_SNV exonic . . 0.2812 0.2817 6.5 18 34232657 FHOD3 G A 38 0.0702875 -0.089 . . . 0.1429 nonsynonymous_SNV exonic . . 0.1779 0.1720 3.5 18 34232952 FHOD3 T C 56 0.3125 . . . . . . intronic . . . 0.2805 4.5 18 34233231 FHOD3 C T 103 0.571086 . . . . . . intronic . . . 0.4975 1.5 18 34233356 FHOD3 C G 1 0.00299521 2.577 . . . 0 nonsynonymous_SNV exonic . . 4.469e-05 0 6 18 34238093 FHOD3 A C 1 0.000199681 1.407 . . . . nonsynonymous_SNV exonic T . . . 8.5 18 34238217 FHOD3 G A 1 0.00299521 . . . . . . intronic . . . 0 4 18 34261559 FHOD3 T A 100 0.460264 . . . . 0.4992 . intronic . 0.4265 0.4859 0.4886 7.5 18 34261581 FHOD3 AG A 145 0.63099 . . . . 0.6588 . intronic . 0.6421 0.6536 0.6544 1.5 18 34273111 FHOD3 C G 12 0.0107827 . . . . . . intronic . . . 0.0333 1.5 18 34273149 FHOD3 A C 1 0.000399361 . . . . 0.0029 . intronic . 0.0013 0.0021 0.0017 4 18 34273279 FHOD3 C G 44 0.0902556 1.318 . . . 0.1783 nonsynonymous_SNV exonic T 0.1810 0.1802 0.1770 3.5 18 34273440 FHOD3 C T 103 0.476238 . . . . . . intronic . . . 0.4874 1.5 18 34289142 FHOD3 A G 11 0.014976 -1.504 . . . 0.0385 nonsynonymous_SNV exonic T 0.0335 0.0360 0.0318 3.5 18 34289245 FHOD3 C T 1 0.000199681 . . . . 0.0001 synonymous_SNV exonic . . 0.0001 6.666e-05 6.5 18 34289285 FHOD3 G T 3 0.00579073 4.122 . . . 0.0200 nonsynonymous_SNV exonic T 0.0236 0.0220 0.0223 3.5 18 34289364 FHOD3 G A 44 0.0760783 . . . . 0.1804 . intronic . 0.1782 0.1801 0.1765 1.5 18 34297753 FHOD3 C T 70 0.419329 . . . . 0.3717 . intronic . 0.3933 0.3751 0.3775 1.5 18 34298542 FHOD3 G A 1 0.00379393 3.308 . . . 0.0018 nonsynonymous_SNV exonic T 0.0023 0.0022 0.0017 6 18 34298732 FHOD3 G C 65 0.395367 . . . . . . intronic . . . 0.3388 4.5 18 34298737 FHOD3 G A 1 0.000199681 . . . . . . intronic . . . . 6.5 18 34310668 FHOD3 C T 64 0.319489 . . . . 0.3239 synonymous_SNV exonic . 0.3427 0.3299 0.3368 4.5 18 34322621 FHOD3 C A 1 0.000199681 . . . . . . intronic . . . 0.0008 4 18 34322877 FHOD3 G A 2 0.00139776 . . . . . . intronic . . . 0.0033 4 18 34324091 FHOD3 G A 64 0.376198 3.145 . . . 0.3054 nonsynonymous_SNV exonic T 0.3263 0.3112 0.3166 6.5 18 34324190 FHOD3 C T 63 0.302117 . . . . 0.3050 . intronic . 0.3251 0.3107 0.3158 4.5 18 34335047 FHOD3 C T 1 0.000798722 . . . . 0.0003 . intronic . 0.0002 6.568e-05 0 4 18 34340773 FHOD3 T C 1 0.000199681 . . . . 8.94e-05 . intronic . 0.0002 3.248e-05 6.668e-05 6.5 18 34349434 FHOD3 C T 1 0.000399361 . . . . 0.0009 . intronic . 0.0006 0.0009 0.0011 4 19 16591464 CALR3 G A 160 0.650559 . MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign 0.7109 synonymous_SNV exonic . 0.7043 0.7065 0.7044 5.125 19 16593198 CALR3 A G 55 0.175319 . . . . . . intronic . . . 0.0006 1.5 19 16593203 CALR3 A G 105 0.43131 . . . . . . intronic . . . 0.6976 1.5 19 16593213 CALR3 AAAAC A 55 0.175319 . . . . . . intronic . . . . 1.5 19 16593318 CALR3 C T 1 0.00539137 . MedGen:C3151266,OMIM:613875|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|Cardiovascular_phenotype|not_provided Benign 0.0160 synonymous_SNV exonic . 0.0167 0.0151 0.0208 2.125 19 16593415 CALR3 G A 160 0.660144 . . . . 0.7113 . intronic\x3bintronic . 0.7048 0.7067 0.7043 4.5 19 16593573 CALR3 G A 33 0.144569 . MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign 0.1648 synonymous_SNV exonic . 0.1692 0.1645 0.1682 2.125 19 16594967 CALR3 A G 160 0.659744 . . . . 0.7098 . intronic . 0.7026 0.6971 0.6996 1.5 19 16594979 CALR3 C T 162 0.692492 . . . . . . intronic . . . 0.6956 1.5 19 16594989 CALR3 C T 111 0.510583 . . . . . . intronic . . . 0.0022 1.5 19 16601154 CALR3 T C 159 0.603035 . . . . 0.7052 . intronic . 0.6966 0.7005 0.6989 1.5 19 16601168 CALR3 G A 29 0.114018 . MedGen:C3151266,OMIM:613875|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_provided Benign 0.1362 . intronic . 0.1415 0.1389 0.1474 2.125 19 16601194 CALR3 C T 159 0.658946 . MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign 0.7102 synonymous_SNV exonic . 0.7038 0.7052 0.7030 2.125 19 16601358 CALR3 G C 1 0.000199681 6.383 . . . 1.498e-05 nonsynonymous_SNV exonic T . 5.371e-05 0 8.5 19 16601411 CALR3 A T 4 0.0355431 . . . . 0.0533 . intronic . 0.0564 0.0537 0.0555 4.5 19 16606589 CALR3 A G 1 0.000199681 6.072 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.951e-06 . 8.5 19 16606727 CALR3 G A 4 0.00179712 . . . . . . intronic . . . 0.0065 5 19 16606742 CALR3 G C 193 0.802316 . . . . . . intronic . . . 0.8728 7.5 19 16606766 CALR3 G C 193 0.810104 . . . . . . intronic . . . 0.8726 7.5 19 16606821 CALR3 C T 1 0.000798722 . . . . 0.0055 . intronic . 0.0028 0.0040 0.0024 4 19 35521779 SCN1B G T 63 0.148163 . EFO:EFO_0005137,MedGen:C2748542|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374 Cardiac_conduction_defect,_nonspecific|Brugada_syndrome|Generalized_epilepsy_with_febrile_seizures_plus|not_specified Benign 0.5 . intronic . . 0.3 0.2054 -2.5 19 35524558 SCN1B C T 1 0.000199681 . . . . . synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . . . . 2.5 19 35524824 SCN1B T C 112 0.377596 -0.608 MedGen:CN169374 not_specified Benign 0.4522 nonsynonymous_SNV exonic T 0.3721 0.3838 0.3918 -0.5 19 35524836 SCN1B G A 1 0.000399361 1.067 MedGen:C1858672,OMIM:604233|MedGen:C2748541,OMIM:612838|MedGen:C3809311,OMIM:615377|MedGen:C4479236,OMIM:617350|MedGen:CN169374|MedGen:CN517202 Generalized_epilepsy_with_febrile_seizures_plus,_type_1|Brugada_syndrome_5|Atrial_fibrillation,_familial,_13|Epileptic_encephalopathy,_early_infantile,_52|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0060 nonsynonymous_SNV exonic T 0.0047 0.0043 0.0039 2 19 35524939 SCN1B C A 48 0.127396 3.869 MedGen:CN169374 not_specified Benign 0.1818 nonsynonymous_SNV exonic T 0.1455 0.1515 0.1693 -0.5 19 35524944 SCN1B G C 48 0.119209 1.238 MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign 0.1828 nonsynonymous_SNV exonic T 0.1454 0.1515 0.1690 -0.5 19 35530073 SCN1B T C 7 0.0155751 . EFO:EFO_0005137,MedGen:C2748542|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2748541,OMIM:612838|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374|MedGen:CN230736 Cardiac_conduction_defect,_nonspecific|Brugada_syndrome|Brugada_syndrome_5|Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0311 synonymous_SNV exonic . 0.0321 0.0315 0.0290 -2.5 19 35530482 SCN1B C T 1 0.000199681 . . . . . . intronic . . . . 2.5 19 35530514 SCN1B T G 3 0.0081869 . . . . 0.0144 . intronic . 0.015 0.0144 0.0155 -2.5 19 35530525 SCN1B C A 3 0.00798722 . MedGen:CN169374 not_specified Benign 0.0145 . intronic . 0.0151 0.0145 0.0156 -2.5 19 35530580 SCN1B G A 2 0.000399361 5.991 MedGen:C2748541,OMIM:612838|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_5|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0005 nonsynonymous_SNV exonic D 0.0005 0.0004 0.0005 4 19 35530586 SCN1B G A 1 0.000199681 5.849 MedGen:CN169374 not_specified Uncertain_significance 1.501e-05 nonsynonymous_SNV exonic D . 2.686e-05 6.682e-05 6.5 19 35530690 SCN1B C G 16 0.0383387 . . . . . . intronic . . . 0.0998 -2.5 19 46273462 DMPK CCAGCAGCAGCAGCAGCAGCAGCAGCAG C 181 0.891573 . . . . . . UTR3 . . . 0.1495 -2.5 19 46273522 DMPK G T 1 0.000399361 . . . . . . UTR3 . . . 0.0002 2.5 19 46273627 DMPK G A 2 0.000399361 . . . . . . UTR3 . . . 0.0011 0 19 46274171 DMPK A C 110 0.608227 . . . . . . intronic\x3bintronic . . . 0.4713 -2.5 19 46274357 DMPK G A 2 0.00299521 . . . . 0.0272 . intronic\x3bintronic . 0.0125 0.0143 0.0147 -2.5 19 46274392 DMPK G C 14 0.0543131 . . . . 0.1128 . intronic\x3bintronic . . 0.0478 0.0557 -2.5 19 46274553 DMPK G A 11 0.0177716 0.279 . . . 0.0583 . intronic . 0.0519 0.0545 0.0524 -2.5 19 46274624 DMPK G A 1 0.00559105 3.047 . . . 0.0161 nonsynonymous_SNV exonic T 0.0149 0.0168 0.0170 -0.5 19 46274650 DMPK G A 1 0.000199681 . . . . 1.521e-05 synonymous_SNV exonic . . 9.159e-06 . 2.5 19 46274701 DMPK G A 1 0.000199681 . . . . 1.536e-05 . intronic . . 9.099e-06 . 2.5 19 46274972 DMPK A C 110 0.576078 . . . . 0.4591 . intronic\x3bintronic . 0.4529 0.4598 0.4690 -2.5 19 46275976 DMPK G C 22 0.145168 2.333 MedGen:CN169374 not_specified Benign 0.1182 nonsynonymous_SNV exonic T 0.1129 0.1127 0.1273 -0.5 19 46276056 DMPK C A 110 0.53754 . . . . 0.4710 . intronic . 0.4545 0.4646 0.4699 -2.5 19 46278189 DMPK G A 1 0.00559105 . . . . 0.0001 . intronic . . 9.925e-05 0.0001 0 19 46280783 DMPK C T 1 0.000199681 . . . . 1.523e-05 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . . 9.021e-06 . 2.5 19 46280917 DMPK G A 2 0.00599042 . MedGen:CN517202 not_provided Likely_benign 0.0044 . intronic\x3bintronic\x3bintronic . 0.0044 0.0045 0.0038 0 19 46281893 DMPK C T 1 0.000199681 3.368 . . . 0.0004 nonsynonymous_SNV exonic T 0.0002 0.0005 0.0002 2 19 46282503 DMPK A C 23 0.122604 . . . . 0.1229 . intronic . 0.1176 0.1199 0.1355 -2.5 19 46282683 DMPK G A 3 0.0127796 . . . . 0.0086 . intronic\x3bintronic . 0.0093 0.0092 0.0086 -2.5 19 46285498 DMPK G A 1 0.000199681 2.577 . . . 0.0001 nonsynonymous_SNV exonic T . 6.554e-05 . 4.5 19 47104678 CALM3 C A 4 0.00379393 . MedGen:CN169374 not_specified Benign 0.0292 . UTR5 . 0.0106 0.0177 0.0171 -2.5 19 47104779 CALM3 A C 5 0.0249601 . . . . . . intronic . . . 0.0241 -2.5 19 47109011 CALM3 T C 152 0.843051 . . . . . . intronic . 0.6911 . 0.6943 -2.5 19 47109190 CALM3 G A 1 0.000199681 . . . . . . intronic . . . . 2.5 19 47111663 CALM3 T C 152 0.846446 . . . . . . intronic\x3bintronic . . . 0.6779 -2.5 19 47111722 CALM3 CT C 1 0.000798722 . MedGen:CN169374 not_specified Likely_benign 0.0009 . intronic . 0.0038 0.0006 0.0004 0 19 47112159 CALM3 G A 1 0.000199681 . . . . 1.549e-05 synonymous_SNV exonic . . 9.184e-06 . 2.5 19 47112357 CALM3 CCT C 3 0.00599042 . MedGen:CN169374 not_specified Likely_benign 0.0179 . intronic . 0.0251 0.0189 0.0224 -2.5 19 47112464 CALM3 C T 1 0.000399361 . . . . . . UTR3 . . . . 2.5 19 47258674 FKRP C T 55 0.103834 . MedGen:CN169374 not_specified Benign 0.2892 . UTR5 . 0.2281 0.2502 0.2510 7.5 19 47258842 FKRP C T 32 0.15016 . MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:C1847759,OMIM:606612|MedGen:C3150413,OMIM:613153|MedGen:CN169374 Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|Congenital_muscular_dystrophy-dystroglycanopathy_(with_or_without_mental_retardation)_type_B5|Congenital_muscular_dystrophy-dystroglycanopathy_with_brain_and_eye_anomalies_type_A5|not_specified Benign 0.1651 synonymous_SNV exonic . 0.1418 0.1404 0.1368 7.5 19 47258956 FKRP C T 2 0.0061901 . MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374 Walker-Warburg_congenital_muscular_dystrophy|not_specified Benign 0.0214 synonymous_SNV exonic . 0.0134 0.0141 0.0133 1.5 19 47259048 FKRP C G 9 0.0061901 0.398 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374 Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified Conflicting_interpretations_of_pathogenicity 0.0384 nonsynonymous_SNV exonic D 0.0106 0.0148 0.0117 3.5 19 47259134 FKRP C A 4 0.00259585 1.067 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN517202 Walker-Warburg_congenital_muscular_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0173 nonsynonymous_SNV exonic D 0.0049 0.0068 0.0049 3.5 19 47259488 FKRP G A 2 0.000399361 1.329 . . . . nonsynonymous_SNV exonic D . . . 8.5 19 49661112 TRPM4 G A 61 0.150359 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871 not_specified|Progressive_familial_heart_block Benign/Likely_benign 0.3171 . UTR5 . . 0.2925 0.2875 1.5 19 49661274 TRPM4 T G 1 0.000199681 . . . . . . intronic . . . . 6.5 19 49661547 TRPM4 A G 29 0.223642 . . . . 0.1388 . intronic . 0.1345 0.1361 0.1317 1.5 19 49661582 TRPM4 T C 180 0.599441 . . . . . . intronic . 0.8564 . 0.8580 1.5 19 49669486 TRPM4 C G 1 0.0319489 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871 not_specified|Progressive_familial_heart_block Benign/Likely_benign 0.0036 . intronic . 0.0026 0.0021 0.0019 7.5 19 49671118 TRPM4 C T 1 0.0207668 . . . . . . intronic . . . 0 1.5 19 49671151 TRPM4 G A 72 0.338858 . . . . 0.3324 . intronic . 0.3301 0.0765 0.1357 1.5 19 49671207 TRPM4 G A 6 0.0159744 0.454 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign 0.0222 nonsynonymous_SNV exonic T 0.0187 2.801e-05 0.0114 3.5 19 49671212 TRPM4 T G 6 0.0159744 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign 0.0222 synonymous_SNV exonic . 0.0187 1.867e-05 0.0113 1.5 19 49671281 TRPM4 G A 12 0.0910543 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0500 synonymous_SNV exonic . 0.0423 0.0456 0.0403 1.5 19 49671482 TRPM4 C T 1 0.00219649 . . . . 0.0053 . intronic . 0.0051 0.0049 0.0040 4 19 49671507 TRPM4 G A 2 0.0119808 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871 Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block Benign/Likely_benign 0.0233 . intronic . 0.0257 0.0244 0.0296 1.5 19 49671771 TRPM4 C T 6 0.0159744 . . . . 0.0224 . intronic . 0.0186 0.0205 0.0309 7.5 19 49671893 TRPM4 C T 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 19 49671980 TRPM4 G A 6 0.0157748 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0435 synonymous_SNV exonic . 0.0185 0.0225 0.0307 7.5 19 49674722 TRPM4 G A 4 0.00359425 . . . . 0.0091 . intronic . 0.0070 0.0083 0.0077 5 19 49674846 TRPM4 C T 1 0.000798722 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0045 synonymous_SNV exonic . 0.0056 0.0046 0.0074 4 19 49675017 TRPM4 G T 10 0.0597045 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0455 synonymous_SNV exonic . 0.0372 0.0418 0.0381 1.5 19 49675038 TRPM4 G GGGGC 2 0.0279553 . MedGen:CN206278,Orphanet:ORPHA871 Progressive_familial_heart_block Likely_benign 0.0030 . intronic . 0.0023 0.0024 0.0020 1.5 19 49675233 TRPM4 C T 12 0.0914537 . . . . 0.0488 . intronic . 0.0421 0.0454 0.0403 1.5 19 49675366 TRPM4 G A 1 0.000399361 4.520 Gene:8184,MedGen:C1970298,OMIM:604559 Progressive_familial_heart_block_type_1B Likely_pathogenic 3.004e-05 . splicing . . 4.476e-05 6.684e-05 6.5 19 49675439 TRPM4 A G 1 0.000199681 . . . . . . intronic . . . 0.0012 4 19 49675456 TRPM4 C T 6 0.00599042 . . . . . . intronic . . . 0.0310 7.5 19 49684586 TRPM4 T A 5 0.0145767 . MedGen:CN169374 not_specified Benign 0.0576 . intronic . 0.0581 0.0601 0.0640 4.5 19 49684787 TRPM4 CTTTTTTTTTT C 6 0.0181709 . . . . . . intronic . . . 0.0346 1.5 19 49685794 TRPM4 C T 1 0.000199681 . . . . 0.0009 . intronic . 0.0003 0.0007 0.0001 4 19 49685865 TRPM4 G A 1 0.000399361 6.830 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Progressive_familial_heart_block_type_1B|Brugada_syndrome|not_specified Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic D 0.0010 0.0005 0.0003 8 19 49686028 TRPM4 CCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT C 1 0.00439297 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN230736 Progressive_familial_heart_block_type_1B|Brugada_syndrome|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0112 nonframeshift_deletion exonic . 0.0098 0.0111 0.0113 1.5 19 49686146 TRPM4 G A 1 0.000399361 6.169 EFO:EFO_0004278,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374 Sudden_cardiac_death|Progressive_familial_heart_block_type_1B|not_specified Conflicting_interpretations_of_pathogenicity 0.0019 stopgain exonic . 0.0011 0.0020 0.0015 9 19 49691870 TRPM4 C T 3 0.00878594 . . . . 0.0060 . intronic . 0.0059 0.0057 0.0059 4 19 49691871 TRPM4 G A 1 0.00119808 . . . . 0.0027 . intronic . 0.0045 0.0031 0.0028 4 19 49691898 TRPM4 G A 1 0.000399361 2.616 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Progressive_familial_heart_block_type_1B|Brugada_syndrome|not_specified Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic T 0.0010 0.0006 0.0003 6 19 49692171 TRPM4 T G 1 0.000199681 . . . . . . intronic . . 9.095e-06 6.673e-05 6.5 19 49692373 TRPM4 C G 64 0.34365 . . . . 0.3191 . intronic . 0.3220 0.3186 0.2959 1.5 19 49694029 TRPM4 G A 2 0.00339457 -1.018 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374 Progressive_familial_heart_block_type_1B|not_specified Benign 0.0017 nonsynonymous_SNV exonic T 0.0017 0.0018 0.0026 6 19 49699866 TRPM4 C T 16 0.11242 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0910 synonymous_SNV exonic . 0.0411 0.0515 0.0461 1.5 19 49700017 TRPM4 G A 1 0.00179712 3.333 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0044 nonsynonymous_SNV exonic T 0.0016 0.0017 0.0011 6 19 49703799 TRPM4 T G 2 0.00259585 . . . . . . intronic . . . 0.0061 4 19 49713732 TRPM4 G A 1 0.000599042 . . . . . . intronic . . . 0.0009 4 19 49714732 TRPM4 C G 3 0.0203674 . MedGen:CN169374 not_specified Benign 0.0039 . intronic . 0.0027 0.0037 0.0029 1.5 19 49714839 TRPM4 C T 3 0.00199681 . MedGen:CN206278,Orphanet:ORPHA871 Progressive_familial_heart_block Uncertain_significance . . UTR3 . 0.0016 . 0.0024 4 19 49714878 TRPM4 T A 1 0.000199681 . . . . . . UTR3 . . . . 6.5 19 55665349 TNNI3 A G 1 0.00159744 . . . . 0.0015 . intronic . 0.0014 0.0019 0.0020 4 19 55665410 TNNI3 C T 20 0.0477236 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0718 unknown exonic . 0.0658 0.0710 0.0649 1.5 19 55665584 TNNI3 A C 214 1 . Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN239479 Ciliary_dyskinesia|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Nemaline_Myopathy,_Recessive Benign/Likely_benign 1 . intronic . . 1 1 2.75 19 55666036 TNNI3 G A 1 0.000199681 . . . . . . intronic . . . . 6.5 19 55666281 TNNI3 C G 1 0.000998403 . . . . . . intronic . . . 0.0006 4 19 55667500 TNNI3 A T 1 0.137181 . . . . . . intronic . . . 0.0283 1.5 19 55667647 TNNI3 C A 21 0.0227636 2.843 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0649 unknown exonic . 0.0505 0.0567 0.0546 1.5 19 55667871 TNNI3 C A 1 0.000199681 . . . . . . intronic . . . 6.682e-05 6.5 19 55667958 TNNI3 C T 2 0.076877 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign 0.0049 . intronic . 0.0036 0.0028 0.0019 2.75 19 55668105 TNNI3 C T 1 0.000199681 . . . . . . intronic . . . . 6.5 19 55668116 TNNI3 T C 1 0.000199681 . . . . . . intronic . . . 6.689e-05 6.5 19 55668397 TNNI3 C T 20 0.0477236 . MedGen:CN169374 not_specified Benign 0.1201 . intronic . 0.0622 0.0708 0.0655 1.5 19 55668509 TNNI3 A T 51 0.458067 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign 0.2431 . intronic . 0.1948 0.2053 0.1976 2.75 19 55668819 TNNI3 A G 48 0.247204 . . . . . . intronic . . . 0.1669 1.5 19 55668848 TNNI3 G C 25 0.0716853 . . . . . . intronic . 0.0679 . 0.0608 1.5 19 55668992 TNNI3 G T 2 0.076877 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign 0.0029 . UTR5 . 0.0033 0.0028 0.0019 2.75 19 55669004 TNNI3 G A 1 0.00259585 . MedGen:CN169374 not_specified Likely_benign 0.0113 . UTR5 . 0.0094 0.0105 0.0086 1.5 19 55669055 TNNI3 G T 1 0.00519169 . MedGen:CN169374 not_specified Uncertain_significance 0.0169 . UTR5 . . 0.0159 0.0127 4.5 1 2985808 PRDM16 T C 26 0.0347444 . . . . 0.0003 . UTR5 . . 0 . -2.5 1 2985885 PRDM16 C G 75 0.360224 . . . . 0.4481 . intronic . 0.3766 0.4203 0.4220 -2.5 1 3102751 PRDM16 G A 1 0.00119808 3.057 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign 0.0029 nonsynonymous_SNV exonic T 0.0025 0.0029 0.0035 2 1 3102852 PRDM16 G A 1 0.00119808 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign 0.0033 synonymous_SNV exonic . 0.0029 0.0020 0.0014 0 1 3301721 PRDM16 C T 56 0.340455 . MedGen:CN169374 not_specified Benign 0.2706 synonymous_SNV exonic . 0.2668 0.2715 0.2782 -2.5 1 3313213 PRDM16 G A 2 0.00379393 . . . . . . intronic . . . 0.0080 0 1 3319339 PRDM16 G A 14 0.0213658 . MedGen:CN169374 not_specified Benign 0.0700 . intronic . . 0.0716 0.0743 -2.5 1 3319461 PRDM16 C T 3 0.0115815 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign 0.0100 synonymous_SNV exonic . 0.0107 0.0098 0.0106 -2.5 1 3319541 PRDM16 G A 1 0.000199681 1.963 . . . 3.09e-05 nonsynonymous_SNV exonic T . 2.738e-05 0 4.5 1 3319601 PRDM16 ACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG A 54 0.35603 . . . . 0.1657 . intronic . 0.1776 0.1917 0.2823 -2.5 1 3321303 PRDM16 C T 1 0.000199681 . . . . 1.529e-05 synonymous_SNV exonic . . 9.015e-06 . 2.5 1 3322049 PRDM16 G A 1 0.000399361 . MedGen:C3809288,OMIM:615373 Left_ventricular_noncompaction_8 Likely_benign 8.107e-05 . intronic . 0.0002 0.0001 0.0003 2.5 1 3327904 PRDM16 G A 3 0.00199681 . . . . 0.0061 . intronic . 0.0051 0.0055 0.0104 -2.5 1 3327973 PRDM16 G A 2 0.00279553 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign 0.0059 synonymous_SNV exonic . 0.0054 0.0062 0.0070 0 1 3328358 PRDM16 T C 181 0.945088 -0.543 MedGen:CN169374 not_specified Benign 0.8404 nonsynonymous_SNV exonic T 0.8356 0.8350 0.8459 -0.5 1 3328499 PRDM16 G A 1 0.000599042 0.428 . . . 3.043e-05 nonsynonymous_SNV exonic T . 1.797e-05 6.685e-05 2 1 3328646 PRDM16 G A 1 0.000199681 1.763 . . . 3.108e-05 nonsynonymous_SNV exonic T . 2.846e-05 0 4.5 1 3328659 PRDM16 C T 48 0.10603 3.424 MedGen:CN169374 not_specified Benign 0.1636 nonsynonymous_SNV exonic T 0.1516 0.1563 0.1406 -0.5 1 3329051 PRDM16 G A 1 0.000798722 -0.133 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Conflicting_interpretations_of_pathogenicity 0.0019 nonsynonymous_SNV exonic T 0.0024 0.0021 0.0016 2 1 3329182 PRDM16 C T 1 0.000399361 . . . . 0 synonymous_SNV exonic . . 1.06e-05 0 2.5 1 3329213 PRDM16 G A 2 0.00119808 0.736 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign 0.0054 nonsynonymous_SNV exonic T 0.0020 0.0028 0.0025 2 1 3329229 PRDM16 G C 1 0.000798722 4.698 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign 0.0070 nonsynonymous_SNV exonic T 0.0019 0.0042 0.0037 2 1 3329384 PRDM16 C T 46 0.107029 . MedGen:CN169374 not_specified Benign 0.2361 . intronic . 0.1344 0.1476 0.1392 -2.5 1 3331099 PRDM16 C T 2 0.00199681 . . . . 0.0124 . intronic . 0.0098 0.0096 0.0075 -2.5 1 3331192 PRDM16 C T 1 0.000399361 6.541 . . . 1.596e-05 nonsynonymous_SNV exonic T . 9.228e-06 . 4.5 1 3334598 PRDM16 C T 1 0.00539137 . . . . 0.0153 . intronic . 0.0090 0.0123 0.0164 -2.5 1 3335162 PRDM16 A G 2 0.00319489 . . . . . . intronic . . . 6.699e-05 0 1 3342109 PRDM16 G T 66 0.117412 . . . . 0.2240 . intronic . 0.2125 0.2169 0.1968 -2.5 1 3342128 PRDM16 G A 1 0.00539137 . MedGen:CN169374 not_specified Benign 0.0185 . intronic . 0.0206 0.0203 0.0221 -2.5 1 3342364 PRDM16 C T 11 0.0613019 . . . . 0.0403 . intronic . 0.0374 0.0422 0.0391 -2.5 1 3342804 PRDM16 G T 61 0.379393 . MedGen:CN169374 not_specified Benign 0.2679 . intronic . 0.2724 0.2693 0.2621 -2.5 1 3342817 PRDM16 A T 1 0.000399361 . . . . 0.0003 . intronic . 0.0004 0.0003 0.0003 2.5 1 3350173 PRDM16 T C 71 0.403754 . . . . . . intronic . . . 0.0373 -2.5 1 3350409 PRDM16 G A 4 0.0982428 . . . . 0.0286 . UTR3\x3bUTR3 . 0.0266 0.0277 0.0244 -2.5 1 11905974 na A G 10 0.0309505 . . . . . . ncRNA_intronic . 0.0522 . 0.0545 -2.5 1 11905981 na A G 24 0.179113 . . . . . . ncRNA_intronic . 0.1496 . 0.1394 0.5 1 11905995 na C A 10 0.0221645 . . . . . . ncRNA_intronic . 0.0641 . 0.0516 0.5 1 11906068 NPPA A G 24 0.179113 1.595 MedGen:CN169374 not_specified Benign 0.1343 stoploss exonic . 0.1552 0.1405 0.1399 0.5 1 11906129 na G T 1 0.000199681 . . . . . . ncRNA_intronic . . . 0.0002 2.5 1 11907603 na G A 14 0.129593 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign 0.0753 . ncRNA_exonic . 0.0877 0.0805 0.0878 0.5 1 11907648 NPPA C T 3 0.0734824 0.267 . . . 0.0421 nonsynonymous_SNV exonic T 0.0471 0.0457 0.0459 -0.5 1 26378362 TRIM63 C T 1 0.00219649 . . . . 0.0067 . UTR3 . 0.0086 0.0067 0.0072 4 1 26378415 TRIM63 G A 1 0.000199681 . . . . 1.649e-05 . intronic . . 1.597e-05 . 6.5 1 26383618 TRIM63 C G 2 0.0964457 . . . . . . intronic . . . 0.0020 1.5 1 26383645 TRIM63 CCAGGGGT C 52 0.0926518 . . . . 0.2424 . intronic . 0.2340 0.2499 0.2500 1.5 1 26383647 TRIM63 A G 1 0.000199681 . . . . 8.021e-05 . intronic . . 5.464e-05 . 6.5 1 26383700 TRIM63 C G 1 0.000199681 2.499 . . . 1.5e-05 nonsynonymous_SNV exonic T . 8.954e-06 . 8.5 1 26383875 TRIM63 A G 62 0.260783 . . . . . . intronic . . . 0.1927 7.5 1 26384013 TRIM63 A G 59 0.117412 . . . . . . intronic . . . 0.1896 7.5 1 26385003 TRIM63 T C 60 0.182308 1.211 . . . 0.2195 nonsynonymous_SNV exonic T 0.2165 0.2175 0.1920 9.5 1 26385150 TRIM63 G C 60 0.156749 . . . . 0.2201 . intronic . 0.2160 0.2185 0.1917 7.5 1 26386771 TRIM63 G A 1 0.000199681 1.871 . . . 3.001e-05 nonsynonymous_SNV exonic T 0.0001 2.687e-05 . 8.5 1 26387625 TRIM63 A C 50 0.11881 . . . . 0.1856 . intronic . 0.1777 0.1796 0.1608 4.5 1 26387783 TRIM63 G A 1 0.00119808 . . . . 0.0017 synonymous_SNV exonic . 0.0026 0.0021 0.0021 4 1 26392824 TRIM63 C A 5 0.0183706 . . . . 0.0801 synonymous_SNV exonic . 0.0844 0.0864 0.1033 4.5 1 26393974 TRIM63 C T 3 0.0415335 . . . . 0.0013 synonymous_SNV exonic . 0.0010 0.0011 0.0007 1.5 1 74701107 TNNI3K C T 4 0.00559105 . . . . 0.0124 . UTR5 . 0.0136 0.0121 0.0129 -2.5 1 74701295 na T A 214 0.976837 . . . . . . intronic . . . 0.9998 -2.5 1 74701950 na T A 63 0.351837 . . . . . . intronic . . . 0.3146 0.5 1 74716310 na C A 1 0.0692891 . . . . 0.0007 . intronic . 0.0010 0.0008 0.0005 -2.5 1 74716515 na CT CTT,C 1 0.0299521 . . . . . . intronic . . . 0.0729 -2.5 1 74716524 na T C 5 0.0299521 . . . . . . intronic . . . 0.0590 -2.5 1 74737269 na T C 1 0.000399361 . . . . 0.0003 . intronic . 0.0003 0.0003 0.0001 2.5 1 74737274 na C T 3 0.00579073 . . . . 0.0086 . intronic . 0.0083 0.0077 0.0054 0 1 74801864 na A G 9 0.113019 . . . . 0.0450 . intronic . 0.0399 0.0422 0.0333 -2.5 1 74801871 na G C 5 0.00339457 . . . . 0.0090 . intronic . 0.0081 0.0083 0.0095 1 1 74801878 na G A 1 0.000199681 . . . . 0.0005 . intronic . 0.0001 0.0005 0.0004 0 1 74808620 na G C 2 0.00119808 -2.697 . . . 0.0022 nonsynonymous_SNV exonic T 0.0016 0.0025 0.0025 2 1 74808631 na C T 1 0.00199681 5.184 . . . 0.0019 nonsynonymous_SNV exonic T 0.0024 0.0021 0.0017 2 1 74818872 na G A 6 0.0535144 . . . . . . intronic . . . 0.0583 -2.5 1 74819077 na T G 208 0.939097 . . . . 0.9439 . intronic . 0.9423 0.9427 0.9419 -2.5 1 74832855 na C T 1 0.00159744 . . . . . . intronic . . . 0.0042 0 1 74833505 na G A 1 0.00359425 . . . . . . intronic . . . 6.682e-05 0 1 74836154 na T G 6 0.0535144 . . . . . . intronic . . . 0.0585 -2.5 1 74901739 na CT C 119 0.540335 . . . . 0.1407 . intronic . . 0.2046 0.7326 -2.5 1 74901829 na A C 8 0.0776757 . . . . 0.0610 . intronic . 0.06 0.0618 0.0600 -2.5 1 74902244 na A G 8 0.0662939 . . . . 0.0615 . intronic . 0.0619 0.0616 0.0623 -2.5 1 74929048 na T G 2 0.00319489 . . . . . . intronic . . . 0.0095 0 1 74929075 na T C 3 0.0660942 . . . . 0.0074 . intronic . 0.0070 0.0065 0.0054 -2.5 1 74929131 na C G 3 0.00858626 6.930 . . . 1.517e-05 nonsynonymous_SNV exonic D . 1.801e-05 . 4 1 74954856 na C CT 4 0.081869 . . . . 0.0137 . intronic . 0.0168 0.0141 0.0117 -2.5 1 74957896 na G C 1 0.000199681 7.042 . . . 7.503e-05 nonsynonymous_SNV exonic T 0.0001 7.168e-05 6.665e-05 4.5 1 75005984 na C T 1 0.000199681 . . . . 3.016e-05 synonymous_SNV exonic . . 1.809e-05 . 2.5 1 75006027 na A G 120 0.324481 . . . . 0.5609 . intronic . 0.5560 0.5610 0.5629 -2.5 1 75006076 na G A 204 0.916334 . . . . . . intronic . . . 0.9599 -2.5 1 75009539 na G A 1 0.000199681 . . . . 1.52e-05 . intronic . . 9.186e-06 . 2.5 1 75009749 na A G 1 0.000199681 . . . . . . UTR3 . . . . 2.5 1 78383467 NEXN G A 189 0.763778 . . . . 0.8609 . intronic . 0.8608 0.8613 0.8544 1.5 1 78383669 NEXN G C 1 0.000199681 5.175 . . . 1.501e-05 nonsynonymous_SNV exonic T . 8.964e-06 . 8.5 1 78383732 NEXN C T 1 0.000199681 . . . . 1.501e-05 . intronic . . 8.962e-06 . 6.5 1 78390821 NEXN CA C 5 0.00938498 . . . . . . intronic . 0.0251 . 0.0159 1.5 1 78391020 NEXN T C 4 0.0341454 . . . . . . intronic . . . 0.0173 1.5 1 78392446 NEXN G A 48 0.150759 5.664 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2142 nonsynonymous_SNV exonic T 0.2073 0.2106 0.2107 3.5 1 78394997 NEXN T C 1 0.000199681 . . . . 1.518e-05 . intronic . . 9.197e-06 . 6.5 1 78399207 NEXN C G 172 0.664537 . . . . 0.8164 . intronic . 0.8166 0.8183 0.8150 1.5 1 78399212 NEXN T C 17 0.0944489 . . . . 0.0611 . intronic . 0.0437 0.0480 0.0394 1.5 1 78407911 NEXN C G 1 0.00119808 . MedGen:CN169374 not_specified Benign 0.0030 . intronic . 0.0032 0.0035 0.0037 4 1 78408536 NEXN C G 16 0.122005 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign 0.1133 . UTR3 . 0.0849 0.0854 0.0861 1.5 1 112318945 KCND3 C A 1 0.000199681 . . . . . . intronic . . 3.378e-05 . 2.5 1 112319899 KCND3 C T 2 0.000399361 . . . . 5.994e-05 . intronic . . 3.599e-05 . 2.5 1 112320984 KCND3 G A 1 0.0285543 . . . . . . intronic . . . 0.0007 -2.5 1 112321032 KCND3 T A 26 0.192692 . . . . 0.1960 . intronic . 0.1974 0.1992 0.2087 0.5 1 112329551 KCND3 G T 35 0.192692 . MedGen:CN169374 not_specified Benign 0.1492 . intronic . 0.1417 0.1469 0.1559 -2.5 1 112524467 KCND3 G C 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 2.5 1 112524583 KCND3 G A 1 0.000199681 6.470 . . . . nonsynonymous_SNV exonic D . 0 . 6.5 1 112524680 KCND3 C G 3 0.0081869 . MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736 Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype Benign 0.0201 synonymous_SNV exonic . 0.0186 0.0214 0.0253 -2.5 1 112525085 KCND3 G A 14 0.0471246 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1233 synonymous_SNV exonic . 0.1205 0.1253 0.1178 -2.5 1 115252142 NRAS A T 1 0.000199681 . . . . 1.501e-05 . intronic . . 8.958e-06 . 2.5 1 115252280 NRAS C T 1 0.000199681 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Rasopathy|not_specified|not_provided Benign/Likely_benign 0.0005 synonymous_SNV exonic . 0.0006 0.0006 0.0005 0 1 115256669 NRAS G A 144 0.8752 . . . . . . intronic . . . 0.6349 -2.5 1 115258827 NRAS T G 46 0.202276 . . . . 0.0056 . intronic . . 0.0018 6.677e-05 -2.5 1 115258830 NRAS C G 46 0.221446 . . . . 0.0612 . intronic . . 0.0331 . -2.5 1 116243868 CASQ2 A G 14 0.0309505 . Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0638 synonymous_SNV exonic . 0.0614 0.0631 0.0689 1.5 1 116243877 CASQ2 G A 106 0.425719 . Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3619 synonymous_SNV exonic . 0.3573 0.3548 0.3609 1.5 1 116245655 CASQ2 G C 61 0.216054 . . . . 0.2308 . intronic . 0.2029 0.2144 0.2207 1.5 1 116247790 CASQ2 G A 60 0.428714 . MedGen:CN169374 not_specified Benign 0.3086 . intronic . 0.3197 0.3113 0.2918 1.5 1 116260532 CASQ2 A T 134 0.642772 . MedGen:C2677794,OMIM:611938|MedGen:CN169374 Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified Benign 0.5441 . intronic . 0.5505 0.5478 0.5345 1.5 1 116260544 CASQ2 C T 74 0.250799 . . . . 0.2315 . intronic . 0.2274 0.2347 0.2379 1.5 1 116260604 CASQ2 G A 134 0.630591 . . . . . . intronic . . . 0.5350 1.5 1 116268154 CASQ2 C T 1 0.000399361 5.979 MedGen:CN169374 not_specified Uncertain_significance 7.518e-05 nonsynonymous_SNV exonic T . 0.0001 0 8.5 1 116268178 CASQ2 GAA G 117 0.505391 . MedGen:CN169374 not_specified Benign 0.1114 . intronic . . . 0.5067 1.5 1 116268283 CASQ2 C T 129 0.567292 . . . . . . intronic . . . 0.5268 1.5 1 116269560 CASQ2 C T 1 0.000199681 . . . . . . intronic . . . 0.0001 6.5 1 116275561 CASQ2 G C 1 0.000399361 5.974 MedGen:C0344432|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Ventricular_tachycardia,_polymorphic|Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic D 0.0010 0.0004 0.0007 8 1 116283343 CASQ2 A G 188 0.64357 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified Benign 0.8689 . intronic . 0.8780 0.8748 0.8575 1.5 1 116283526 CASQ2 G A 188 0.64357 . . . . . . intronic . . . 0.8575 1.5 1 116310943 CASQ2 C A 1 0.000199681 11.767 . . . 1.498e-05 stopgain exonic . . 8.981e-06 . 11.5 1 116310967 CASQ2 T C 79 0.401158 -1.622 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign 0.2837 nonsynonymous_SNV exonic T 0.2891 0.2901 0.2547 6.5 1 116311198 CASQ2 T C 214 0.96246 . . . . 0.9990 . UTR5 . 0.9994 0.9992 0.9993 1.5 1 147230217 GJA5 T C 167 0.880391 . . . . . . UTR3 . . . 0.7756 -2.5 1 147230978 GJA5 G A 3 0.0163738 . MedGen:C1838539,OMIM:108770|MedGen:C3279693,OMIM:614049|MedGen:CN204347,Orphanet:ORPHA334 Atrial_standstill_1|Atrial_fibrillation,_familial,_11|Familial_atrial_fibrillation Benign/Likely_benign 0.0069 synonymous_SNV exonic . 0.0064 0.0065 0.0047 -2.5 1 156084760 LMNA C T 2 0.00678914 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN043576|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Primary_dilated_cardiomyopathy|Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Charcot-Marie-Tooth_disease,_type_2|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign 0.0371 synonymous_SNV exonic . 0.0126 0.0141 0.0116 2.75 1 156104292 LMNA G A 5 0.00798722 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN043576|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Charcot-Marie-Tooth_disease,_type_2|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign 0.0088 synonymous_SNV exonic . 0.0073 0.0083 0.0075 6.25 1 156104375 LMNA G T 3 0.077476 . . . . . . intronic . . . 0.0236 1.5 1 156104392 LMNA C T 3 0.0750799 . . . . . . intronic . . . 0.0236 1.5 1 156104659 LMNA C T 1 0.000199681 4.678 . . . 1.5e-05 nonsynonymous_SNV exonic D . 8.951e-06 . 8.5 1 156105028 LMNA T C 32 0.193091 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign 0.0745 synonymous_SNV exonic . 0.0751 0.0722 0.0712 2.125 1 156105928 LMNA G A 31 0.192292 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN517202 Primary_dilated_cardiomyopathy|not_specified|not_provided Benign/Likely_benign 0.0733 . intronic . 0.0748 0.0713 0.0704 2.75 1 156105961 LMNA C T 3 0.00219649 . MedGen:CN043576|MedGen:CN169374|MedGen:CN517202 Charcot-Marie-Tooth_disease,_type_2|not_specified|not_provided Benign 0.0106 . intronic\x3bintronic . 0.0069 0.0080 0.0131 1.5 1 156106185 LMNA T C 31 0.249201 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign 0.0978 synonymous_SNV exonic . 0.0760 0.0734 0.0717 2.125 1 156106863 LMNA C T 31 0.182308 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.0738 . intronic\x3bintronic . 0.0751 0.0714 0.0709 1.5 1 156107470 LMNA G A 1 0.000199681 4.275 MedGen:C0031117,Orphanet:ORPHA98496|MedGen:C1834481,OMIM:613426|MedGen:CN043576|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Peripheral_neuropathy|Dilated_cardiomyopathy_1S|Charcot-Marie-Tooth_disease,_type_2|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D 0.0004 0.0005 0.0005 6.5 1 156107534 LMNA C T 45 0.220248 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0271694,Orphanet:ORPHA98306,SNOMED_CT:49292002|MedGen:C0406585,OMIM:275210,Orphanet:ORPHA1662,SNOMED_CT:400128006|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1834653,OMIM:159001,Orphanet:ORPHA264|MedGen:C1854154,OMIM:605588,Orphanet:ORPHA98856|MedGen:C2750035,OMIM:616516,Orphanet:ORPHA98855|MedGen:C2750785,OMIM:613205,Orphanet:ORPHA157973|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN236772|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Limb-girdle_muscular_dystrophy,_type_1B|Charcot-Marie-Tooth_disease_type_2B1|Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign 0.2817 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.2531 0.2649 0.2486 2.125 1 156108325 LMNA G A 1 0.000199681 7.313 MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348|MedGen:CN517202 Familial_partial_lipodystrophy_2|not_provided Pathogenic 0 nonsynonymous_SNV exonic D . 9.448e-06 6.674e-05 10.5 1 156108610 LMNA G T 2 0.000998403 . . . . . . intronic . . . 0.0019 4 1 156108976 LMNA G C 32 0.185304 . MedGen:CN517202 not_provided not_provided . . UTR3\x3bUTR3 . 0.0773 . 0.0708 1.5 1 156109536 LMNA G A 4 0.00319489 . . . . 0.0189 . UTR3 . . 0.0141 0.0106 1.5 1 162257246 NOS1AP A G 2 0.00599042 . . . . 0.0179 . intronic . 0.0174 0.0175 0.0128 -2.5 1 162270589 NOS1AP T C 1 0.000199681 . . . . . . intronic\x3bintronic . . . . 2.5 1 162302846 NOS1AP C T 2 0.00319489 . MedGen:CN517202 not_provided Benign 0.0040 synonymous_SNV exonic . 0.0041 0.0039 0.0051 0 1 162313597 NOS1AP T C 208 0.925919 . . . . 0.9795 . intronic . 0.9816 0.9811 0.9811 -2.5 1 162313735 NOS1AP C T 74 0.430911 . . . . 0.3647 synonymous_SNV exonic . 0.3571 0.3580 0.3632 -2.5 1 162324934 NOS1AP G T 1 0.000998403 . . . . 1.502e-05 . intronic . . 4.487e-05 6.673e-05 0 1 162325172 NOS1AP T G 1 0.000199681 . . . . 0.0003 . intronic . 0.0005 0.0003 0.0003 0 1 162326755 NOS1AP G A 1 0.000599042 . . . . 7.499e-05 synonymous_SNV exonic . 0.0002 9.859e-05 0.0002 0 1 162326851 NOS1AP C T 1 0.00159744 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Likely_benign 0.0088 synonymous_SNV exonic . 0.0073 0.0093 0.0083 0 1 162335256 NOS1AP C T 37 0.250799 . . . . 0.1195 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.1199 0.1169 0.1075 -2.5 1 162335289 NOS1AP G A 1 0.000199681 3.967 . . . . nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T . 0 . 2.5 1 162335424 NOS1AP T C 176 0.719249 . . . . . . intronic\x3bintronic . . . 0.8912 -2.5 1 201328267 TNNT2 G A 3 0.00678914 . . . . . . UTR3 . 0.0270 . 0.0278 1.5 1 201328272 TNNT2 C T 7 0.00738818 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign . . UTR3 . 0.0330 . 0.0244 1.5 1 201328301 TNNT2 G A 1 0.00159744 . . . . 0.0008 . UTR3 . 0.0003 0.0005 0.0005 4 1 201328329 TNNT2 G A 1 0.000199681 . . . . 4.112e-05 . UTR3 . 0.0001 1.872e-05 . 6.5 1 201328348 TNNT2 C A 1 0.000199681 8.083 . . . 1.935e-05 nonsynonymous_SNV exonic T . 9.261e-06 . 8.5 1 201328705 TNNT2 G A 10 0.0113818 . . . . 0.0364 . intronic . 0.0283 0.0301 0.0266 1.5 1 201328824 TNNT2 G A 23 0.277157 . MedGen:CN169374 not_specified Benign 0.1326 . intronic . 0.1020 0.0985 0.0993 1.5 1 201328913 TNNT2 G C 23 0.277955 . . . . . . intronic . . . 0.0989 1.5 1 201330429 TNNT2 T C 5 0.0974441 2.213 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0162 nonsynonymous_SNV exonic T 0.0148 0.0151 0.0179 4.75 1 201330583 TNNT2 A G 12 0.170927 . . . . . . intronic . . . 0.1037 1.5 1 201331240 TNNT2 C T 1 0.0341454 . . . . 0.0006 nonsynonymous_SNV exonic . . 0.0005 0.0003 3.5 1 201331335 TNNT2 A G 12 0.165535 . . . . . . intronic . 0.1018 . 0.1040 1.5 1 201331379 TNNT2 T C 12 0.165335 . . . . . . intronic . . . 0.1039 1.5 1 201334382 TNNT2 G A 160 0.695088 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7147 synonymous_SNV exonic . 0.7184 0.7096 0.7202 1.5 1 201334795 TNNT2 C T 23 0.0824681 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0624 synonymous_SNV exonic . 0.0634 0.0619 0.0617 1.5 1 201335899 TNNT2 C T 214 0.98143 . . . . . . intronic . 0.9991 . 0.9994 1.5 1 201336984 TNNT2 C T 97 0.285543 . MedGen:CN169374 not_specified Benign 0.4552 . intronic\x3bintronic . 0.4466 0.4556 0.4630 1.5 1 201337340 TNNT2 G T 1 0.000199681 -0.485 . . . 1.501e-05 nonsynonymous_SNV exonic D . 8.954e-06 . 8.5 1 201338553 TNNT2 T C 160 0.734625 . . . . . . intronic . 0.7219 . 0.7224 1.5 1 201338586 TNNT2 A G 137 0.519169 . . . . . . intronic . . . 0.6254 1.5 1 201338896 TNNT2 T C 137 0.529952 . . . . 0.6175 . intronic . 0.6210 0.6161 0.6255 1.5 1 201339043 TNNT2 C T 142 0.536142 . . . . . . intronic . 0.6332 . 0.6326 1.5 1 201339044 TNNT2 G A 12 0.0678914 . . . . . . intronic . 0.1009 . 0.1003 1.5 1 201341175 TNNT2 CAGAAG C 137 0.520367 . . . . 0.6146 . intronic\x3bintronic . . 0.6134 0.6170 1.5 1 201341341 TNNT2 C T 161 0.771765 . . . . . . intronic . 0.7244 . 0.7258 1.5 1 227069677 PSEN2 T C 169 0.735623 . MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7801 synonymous_SNV exonic . 0.7801 0.7788 0.7619 1.5 1 227069737 PSEN2 C T 141 0.443291 . MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.5425 synonymous_SNV exonic . 0.5388 0.5342 0.5173 1.5 1 227071364 PSEN2 G A 141 0.443291 . . . . 0.5436 . intronic . 0.5378 0.5267 0.5175 1.5 1 227071377 PSEN2 T C 168 0.624401 . . . . 0.7776 . intronic . 0.775 0.7722 0.7593 1.5 1 227071383 PSEN2 C T 1 0.0219649 . . . . 0.0036 . intronic . 0.0026 0.0025 0.0014 1.5 1 227071449 PSEN2 G A 1 0.0179712 2.001 MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN239310|MedGen:CN517202 Alzheimer's_disease|Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0036 nonsynonymous_SNV exonic D 0.0026 0.0024 0.0015 3.5 1 227071475 PSEN2 C T 1 0.00139776 5.492 MedGen:CN169374 not_specified Likely_benign 0.0037 nonsynonymous_SNV exonic D 0.0037 0.0039 0.0047 8 1 227071525 PSEN2 C T 141 0.443291 . MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.5418 synonymous_SNV exonic . 0.5395 0.5348 0.5179 1.5 1 227071564 PSEN2 C T 2 0.000399361 . . . . 0.0001 synonymous_SNV exonic . . 8.065e-05 0 6.5 1 227073410 PSEN2 G C 169 0.735623 . . . . 0.7806 . intronic . 0.78 0.7789 0.7620 1.5 1 227073420 PSEN2 G A 1 0.000998403 . . . . 0.0025 . intronic . 0.0033 0.0026 0.0021 4 1 227075920 PSEN2 A G 2 0.00419329 . . . . . . intronic . 0.0113 . 0.0214 1.5 1 227075939 PSEN2 C T 4 0.00838658 . . . . . . intronic . . . 0.0186 1.5 1 227076653 PSEN2 C G 1 0.000199681 . MedGen:CN043596|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant Uncertain_significance 0.0003 synonymous_SNV exonic . 0.0007 0.0004 0.0004 4 1 227076671 PSEN2 T C 5 0.0291534 . MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign 0.0064 synonymous_SNV exonic . 0.0073 0.0062 0.0057 1.5 1 227078955 PSEN2 T C 169 0.722843 . . . . 0.7860 . intronic . 0.7797 0.7796 0.7624 1.5 1 227081850 PSEN2 G A 146 0.574081 . . . . 0.5668 . intronic . 0.5608 0.5551 0.5390 1.5 1 228399482 C1orf145 C G 143 0.721046 . . . . 0.6207 . ncRNA_intronic . 0.6129 0.6047 0.6098 -2.5 1 228399519 OBSCN T A 1 0.00179712 3.232 MedGen:CN517202 not_provided Uncertain_significance 0.0075 nonsynonymous_SNV exonic D 0.0057 0.0058 0.0048 6 1 228399671 OBSCN G A 2 0.0245607 4.150 . . . 0.0034 nonsynonymous_SNV exonic T 0.0018 0.0019 0.0016 3.5 1 228399766 OBSCN T C 143 0.726238 . . . . 0.6233 synonymous_SNV exonic . 0.6178 0.6077 0.6101 1.5 1 228399799 OBSCN C T 3 0.0507188 . . . . 0.0482 synonymous_SNV exonic . 0.037 0.0415 0.0477 1.5 1 228401183 OBSCN G C 1 0.000998403 4.903 . . . 0.0002 nonsynonymous_SNV exonic D . 9.569e-05 0.0002 6 1 228401329 OBSCN C T 1 0.00339457 . . . . 0.0130 synonymous_SNV exonic . 0.0074 0.0074 0.0067 1.5 1 228402047 OBSCN A G 143 0.719848 . . . . 0.6132 synonymous_SNV exonic . 0.6095 0.6117 0.6098 1.5 1 228402097 OBSCN C G 1 0.000199681 3.698 . . . . nonsynonymous_SNV exonic D . . . 8.5 1 228402121 OBSCN A G 142 0.719649 3.331 . . . 0.6122 nonsynonymous_SNV exonic T 0.6065 0.6117 0.6104 3.5 1 228402508 OBSCN C T 70 0.275759 . . . . 0.4016 synonymous_SNV exonic . 0.3900 0.3857 0.3888 1.5 1 228402639 OBSCN C T 1 0.000199681 . . . . 1.536e-05 synonymous_SNV exonic . . 8.984e-06 . 6.5 1 228403476 OBSCN C G 1 0.000199681 -1.394 . . . 0.0002 nonsynonymous_SNV exonic T . 0.0001 0.0001 8.5 1 228403500 OBSCN A C 1 0.000199681 0.728 . . . . nonsynonymous_SNV exonic T . . . 8.5 1 228404198 OBSCN G A 3 0.0535144 . . . . 0.0822 synonymous_SNV exonic . 0.0367 0.0404 0.0461 1.5 1 228404305 OBSCN G A 1 0.00279553 -0.246 . . . 0.0171 nonsynonymous_SNV exonic T 0.0084 0.0089 0.0085 3.5 1 228404368 OBSCN G A 1 0.000998403 0.297 . . . 0.0061 nonsynonymous_SNV exonic T 0.0019 0.0030 0.0017 6 1 228404668 OBSCN T C 74 0.336462 . . . . 0.4046 . intronic . 0.3954 0.3952 0.3965 1.5 1 228404901 OBSCN G A 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 1 228404997 OBSCN C T 6 0.0169728 . . . . 0.0407 . intronic . 0.0401 0.0415 0.0410 1.5 1 228407010 OBSCN C T 72 0.285343 . . . . 0.4470 . intronic . . 0.3863 0.3856 1.5 1 228407059 OBSCN G T 5 0.0135783 . . . . 0.0377 synonymous_SNV exonic . . 0.0369 0.0370 1.5 1 228407260 OBSCN G A 72 0.277157 . . . . 0.4158 synonymous_SNV exonic . . 0.3813 0.3852 1.5 1 228407265 OBSCN G A 1 0.0429313 0.971 . . . 0.0358 nonsynonymous_SNV exonic . . 0.0266 0.0339 3.5 1 228407285 OBSCN C T 2 0.0307508 3.265 . . . 0.0033 nonsynonymous_SNV exonic . . 0.0020 0.0017 3.5 1 228412106 OBSCN T C 75 0.412141 . . . . . . intronic . . . 0.3914 1.5 1 228412227 OBSCN T C 75 0.41254 . . . . 0.3914 synonymous_SNV exonic . . 0.3905 0.3890 1.5 1 228412228 OBSCN G A 73 0.284145 2.136 . . . 0.3856 nonsynonymous_SNV exonic T . 0.3850 0.3845 3.5 1 228412308 OBSCN G A 75 0.41254 . . . . 0.3933 synonymous_SNV exonic . 0.3925 0.3930 0.3944 1.5 1 228412415 OBSCN C T 1 0.000399361 1.038 . . . 0.0003 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0001 8.5 1 228431095 OBSCN A G 122 0.616613 . . . . 0.6797 synonymous_SNV exonic . 0.6828 0.6767 0.6910 1.5 1 228431930 OBSCN C T 122 0.616813 . . . . . . intronic . . . 0.6915 1.5 1 228432061 OBSCN C T 2 0.000599042 . . . . 0.0019 synonymous_SNV exonic . . 0.0019 0.0047 4 1 228432264 OBSCN A T 11 0.0171725 0.066 . . . 0.0425 nonsynonymous_SNV exonic T 0.0401 0.0419 0.0395 3.5 1 228432323 OBSCN T C 2 0.0832668 . . . . . . intronic . 0.0055 . 0.0035 1.5 1 228433171 OBSCN C T 1 0.000798722 0.182 . . . 0.0009 nonsynonymous_SNV exonic T 0.0005 0.0007 0.0005 6 1 228433217 OBSCN A G 122 0.616613 . . . . 0.6794 synonymous_SNV exonic . 0.6825 0.6768 0.6913 1.5 1 228433346 OBSCN C T 2 0.0587061 . . . . 0.0039 synonymous_SNV exonic . 0.0028 0.0033 0.0029 1.5 1 228434395 OBSCN T C 122 0.617612 . . . . 0.6794 synonymous_SNV exonic . 0.6833 0.6768 0.6906 1.5 1 228434467 OBSCN T C 122 0.66254 . . . . 0.6802 synonymous_SNV exonic . 0.6824 0.6773 0.6917 1.5 1 228437603 OBSCN T C 122 0.663738 . . . . . . intronic . . . 0.6912 1.5 1 228437772 OBSCN G A 2 0.0611022 . . . . 0.0028 synonymous_SNV exonic . 0.0025 0.0027 0.0026 1.5 1 228444297 OBSCN T G 69 0.159744 . . . . . . intronic . . . 0.3412 4.5 1 228444318 OBSCN T G 122 0.617013 . . . . 0.6799 . intronic . 0.6821 0.6763 0.6907 1.5 1 228444419 OBSCN C T 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 1 228444565 OBSCN T A 214 1 0.030 . . . 1 nonsynonymous_SNV exonic T . 1 1 3.5 1 228447463 OBSCN G A 2 0.00239617 0.355 . . . 0.0133 nonsynonymous_SNV exonic T 0.0110 0.0120 0.0103 3.5 1 228447513 OBSCN T G 71 0.296925 . . . . 0.3844 . intronic . 0.3890 0.3837 0.3849 1.5 1 228447519 OBSCN T A 71 0.296925 . . . . 0.3842 . intronic . 0.3890 0.3840 0.3850 1.5 1 228451826 OBSCN C T 51 0.30631 0.352 . . . 0.2922 nonsynonymous_SNV exonic T 0.2810 0.2892 0.3003 3.5 1 228451941 OBSCN C T 3 0.00439297 . . . . 0.0066 synonymous_SNV exonic . 0.0044 0.0061 0.0053 4 1 228452016 OBSCN G C 1 0.00399361 -1.319 . . . 0.0190 nonsynonymous_SNV exonic T 0.0195 0.0186 0.0189 3.5 1 228452032 OBSCN G A 2 0.0571086 3.095 . . . 0.0043 nonsynonymous_SNV exonic T 0.0044 0.0042 0.0031 3.5 1 228456294 OBSCN C G 1 0.000399361 2.128 . . . 1.576e-05 nonsynonymous_SNV exonic T . 0 . 8.5 1 228456295 OBSCN C G 1 0.000399361 . . . . 0 synonymous_SNV exonic . . 9.144e-06 . 6.5 1 228456296 OBSCN A G 1 0.000399361 3.369 . . . 0 nonsynonymous_SNV exonic D . 0 0 8.5 1 228461097 OBSCN C G 3 0.00219649 1.035 . . . 0.0079 nonsynonymous_SNV exonic T . 0.0074 0.0097 6 1 228461129 OBSCN A G 125 0.69349 -0.541 . . . 0.6973 nonsynonymous_SNV exonic T 0.6953 0.6933 0.7098 3.5 1 228461187 OBSCN T C 4 0.00958466 . . . . 0.0226 synonymous_SNV exonic . 0.0250 0.0219 0.0200 1.5 1 228461408 OBSCN A AGGG 214 0.999201 . . . . . . intronic . . . . 1.5 1 228461504 OBSCN G A 1 0.00139776 0.409 . . . 0.0012 nonsynonymous_SNV exonic T 0.0019 0.0016 0.0008 6 1 228461757 OBSCN G A 33 0.206669 . . . . 0.1897 . intronic . 0.1774 0.1830 0.1770 1.5 1 228462520 OBSCN C T 1 0.00179712 . . . . 0.0006 synonymous_SNV exonic . 0.0002 0.0005 0.0007 4 1 228462570 OBSCN C T 1 0.00159744 . . . . 0.0103 . intronic . 0.0101 0.0090 0.0073 1.5 1 228463425 OBSCN A G 1 0.00279553 . . . . . . intronic . . . . 4 1 228463433 OBSCN C T 47 0.258786 . . . . 0.3414 . intronic . 0.2507 0.2822 0.2976 1.5 1 228463763 OBSCN G A 1 0.000399361 . . . . 0.0002 . intronic . . 6.022e-05 . 6.5 1 228463774 OBSCN G T 3 0.00279553 . . . . 0.0098 . intronic . 0.0048 0.0078 0.0068 4 1 228464100 OBSCN G A 33 0.207069 . . . . . . intronic . . . 0.1768 1.5 1 228464141 OBSCN T G 1 0.000199681 . . . . 1.627e-05 . intronic . . 9.674e-06 . 6.5 1 228464248 OBSCN T G 125 0.695487 -0.460 . . . 0.6998 nonsynonymous_SNV exonic T 0.6965 0.6944 0.7121 3.5 1 228464255 OBSCN T C 3 0.00259585 4.777 . . . 0.0115 nonsynonymous_SNV exonic T 0.0109 0.0105 0.0102 3.5 1 228464276 OBSCN T C 125 0.663538 -0.742 . . . 0.6993 nonsynonymous_SNV exonic T 0.6960 0.6931 0.7115 3.5 1 228464303 OBSCN G T 1 0.00459265 1.771 . . . 0.0290 nonsynonymous_SNV exonic T 0.0278 0.0253 0.0274 3.5 1 228464385 OBSCN G A 1 0.000199681 3.941 . . . 3.35e-05 nonsynonymous_SNV exonic T . 1.132e-05 . 8.5 1 228464440 OBSCN C T 1 0.000199681 . . . . 0.0012 . intronic . 0.0005 0.0006 0.0011 4 1 228464759 OBSCN C T 1 0.000199681 . . . . . . intronic . . 0 . 6.5 1 228464842 OBSCN C G 124 0.69369 . . . . 0.7158 . intronic . 0.6953 0.6887 0.7050 1.5 1 228464899 OBSCN C T 1 0.000199681 . . . . 0.0002 synonymous_SNV exonic . . 7.025e-05 . 6.5 1 228464937 OBSCN G A 1 0.000199681 0.694 . . . 5.543e-05 nonsynonymous_SNV exonic T 0.0001 3.632e-05 . 8.5 1 228465346 OBSCN A G 74 0.330072 3.591 . . . 0.5114 nonsynonymous_SNV exonic . . 0.3862 0.3808 3.5 1 228465370 OBSCN T G 128 0.669529 . . . . 0.7351 . intronic\x3bintronic . . 0.6986 0.7141 1.5 1 228465403 OBSCN G T 11 0.102835 . . . . 0.0683 . intronic\x3bintronic . . 0.0596 0.0611 1.5 1 228465426 OBSCN C T 1 0.000399361 . . . . 0.0027 . intronic\x3bintronic . 0.0030 0.0028 0.0017 4 1 228466819 OBSCN C T 11 0.0167732 . . . . . . intronic . . . 0.0386 1.5 1 228466843 OBSCN C T 3 0.00499201 . . . . 0.0107 . intronic . 0.0111 0.0106 0.0107 1.5 1 228466862 OBSCN C T 4 0.0421326 . . . . 0.0370 . intronic . 0.0331 0.0355 0.0363 1.5 1 228467072 OBSCN C G 1 0.00299521 . . . . 0.0132 synonymous_SNV exonic . 0.0101 0.0124 0.0206 1.5 1 228467095 OBSCN T C 1 0.00219649 2.990 . . . 0.0071 nonsynonymous_SNV exonic T 0.0089 0.0078 0.0080 6 1 228467158 OBSCN G A 1 0.000998403 . . . . 0.0024 . intronic . 0.0018 0.0027 0.0032 4 1 228467642 OBSCN C T 1 0.000599042 3.815 . . . 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0003 0 6 1 228467711 OBSCN G A 6 0.0836661 3.250 . . . 0.0370 nonsynonymous_SNV exonic T 0.0184 0.0218 0.0221 3.5 1 228467969 OBSCN G C 1 0.000998403 4.087 . . . 0.0005 nonsynonymous_SNV exonic T 0.0002 0.0006 0.0010 6 1 228468179 OBSCN A C 1 0.000199681 . . . . 0.0010 . intronic\x3bintronic . 0.0005 0.0006 0.0003 4 1 228468244 OBSCN G A 6 0.113618 . . . . 0.0230 synonymous_SNV exonic . 0.0183 0.0219 0.0225 1.5 1 228468458 OBSCN G A 54 0.31889 1.572 . . . 0.3115 nonsynonymous_SNV exonic T 0.2785 0.3061 0.3193 3.5 1 228468566 OBSCN A G 74 0.239816 . . . . . . intronic . . . 0.3708 1.5 1 228469720 OBSCN G A 1 0.000199681 2.733 . . . 3.024e-05 nonsynonymous_SNV exonic T . 2.702e-05 . 8.5 1 228469801 OBSCN G C 8 0.0111821 5.043 . . . 0.0216 nonsynonymous_SNV exonic T 0.0219 0.0211 0.0214 3.5 1 228469870 OBSCN C T 6 0.0872604 2.777 . . . 0.0222 nonsynonymous_SNV exonic T 0.0178 0.0210 0.0217 3.5 1 228469903 OBSCN A T 3 0.0766773 11.513 . . . 0.0060 stopgain exonic . 0.0025 0.0048 0.0051 6.5 1 228469904 OBSCN G T 3 0.0766773 3.320 . . . 0.0060 nonsynonymous_SNV exonic T 0.0024 0.0048 0.0051 3.5 1 228470995 OBSCN G T 53 0.318091 . . . . 0.3709 . intronic . 0.2859 0.2972 0.3185 1.5 1 228471028 OBSCN C T 1 0.000199681 . . . . 0.0001 . intronic . . 1.828e-05 . 6.5 1 228471046 OBSCN C T 70 0.147364 . . . . . . intronic . . . 0.3329 4.5 1 228471379 OBSCN G C 75 0.230232 . . . . 0.3727 synonymous_SNV exonic . 0.3681 0.3719 0.3705 4.5 1 228473733 OBSCN G A 1 0.000199681 . . . . 0 . intronic . . 0.0001 0.0001 6.5 1 228474422 OBSCN G C 1 0.00219649 . . . . . . intronic . . . 0.0080 4 1 228475715 OBSCN A G 4 0.00559105 . . . . 0.0173 . intronic\x3bintronic . 0.0157 0.0176 0.0173 1.5 1 228475848 OBSCN G A 53 0.302716 4.107 . . . 0.3041 nonsynonymous_SNV exonic T 0.2973 0.3017 0.3168 3.5 1 228476366 OBSCN G T 6 0.0958466 2.734 . . . 0.0224 nonsynonymous_SNV exonic T 0.0149 0.0216 0.0222 3.5 1 228476367 OBSCN A T 6 0.0958466 2.116 . . . 0.0224 nonsynonymous_SNV exonic T 0.0142 0.0218 0.0224 3.5 1 228476390 OBSCN G A 1 0.000199681 . . . . 2.997e-05 synonymous_SNV exonic . . 1.79e-05 6.668e-05 6.5 1 228476414 OBSCN G A 6 0.0938498 . . . . 0.0225 synonymous_SNV exonic . 0.0186 0.0218 0.0224 1.5 1 228476526 OBSCN G A 1 0.000199681 5.578 . . . . nonsynonymous_SNV exonic D . . . 10.5 1 228480282 OBSCN A G 134 0.698882 . . . . 0.7029 synonymous_SNV exonic . 0.7022 0.6999 0.7148 1.5 1 228481116 OBSCN G A 1 0.000199681 0.259 . . . 9.004e-05 nonsynonymous_SNV exonic T 0.0001 0.0001 . 8.5 1 228481382 OBSCN C T 3 0.00459265 . . . . . . intronic . . . 0.0187 1.5 1 228481917 OBSCN G A 4 0.00878594 . . . . 0.0193 synonymous_SNV exonic . 0.0229 0.0188 0.0157 1.5 1 228482010 OBSCN C T 94 0.381989 . . . . 0.4961 synonymous_SNV exonic . 0.4953 0.497 0.5212 1.5 1 228482028 OBSCN G C 34 0.21246 . . . . 0.1837 synonymous_SNV exonic . 0.1766 0.1808 0.1697 1.5 1 228482059 OBSCN G A 5 0.00798722 5.747 . . . 0.0327 nonsynonymous_SNV exonic T 0.0421 0.0352 0.0357 3.5 1 228482125 OBSCN C T 1 0.000199681 . . . . 0.0001 . intronic . . 6.286e-05 6.676e-05 6.5 1 228482160 OBSCN C T 1 0.0225639 . . . . 0.0022 . intronic . 0.0023 0.0020 0.0029 1.5 1 228482569 OBSCN G A 9 0.0127796 . . . . 0.0324 synonymous_SNV exonic . 0.0324 0.0338 0.0346 1.5 1 228482663 OBSCN C A 1 0.000199681 -0.373 . . . 1.498e-05 nonsynonymous_SNV exonic T . 8.951e-06 . 8.5 1 228486404 OBSCN C T 31 0.165935 0.548 . . . 0.1816 nonsynonymous_SNV exonic T 0.1788 0.1769 0.1673 3.5 1 228487165 OBSCN C T 1 0.000599042 . . . . 6.005e-05 synonymous_SNV exonic . . 4.535e-05 6.673e-05 4 1 228491633 OBSCN G A 5 0.052516 0.427 . . . 0.0391 nonsynonymous_SNV exonic T 0.0397 0.0372 0.0372 3.5 1 228492044 OBSCN G A 97 0.369209 . . . . 0.4986 synonymous_SNV exonic . 0.4905 0.4974 0.5219 1.5 1 228492061 OBSCN C T 1 0.000199681 0.464 . . . 6.039e-05 nonsynonymous_SNV exonic T . 6.286e-05 6.672e-05 8.5 1 228492125 OBSCN C T 1 0.000798722 . . . . 0.0040 synonymous_SNV exonic . 0.0058 0.0043 0.0061 4 1 228492220 OBSCN C T 4 0.00539137 2.422 . . . 0.0176 nonsynonymous_SNV exonic T 0.0158 0.0179 0.0175 3.5 1 228494070 OBSCN C G 1 0.000199681 . . . . . . intronic . . . . 6.5 1 228494209 OBSCN T C 1 0.000599042 . . . . 0.0016 synonymous_SNV exonic . 0.0010 0.0016 0.0011 4 1 228494346 OBSCN T C 1 0.000199681 . . . . . . intronic . . . . 6.5 1 228494357 OBSCN C T 31 0.166733 . . . . 0.1894 . intronic . 0.1716 0.1765 0.1683 1.5 1 228494382 OBSCN T C,G 31 0.383387 . . . . 0.5074 . intronic . 0.6220 0.5018 0.5224 1.5 1 228494394 OBSCN C T 1 0.00239617 . . . . . . intronic . . . 0.0058 4 1 228494552 OBSCN C G 1 0.000199681 . . . . 0 . intronic . . 2.054e-05 . 6.5 1 228494696 OBSCN G A 37 0.308506 . . . . 0.2636 synonymous_SNV exonic . 0.1945 0.2031 0.1925 1.5 1 228494790 OBSCN G A 97 0.26857 2.944 . . . 0.4976 nonsynonymous_SNV exonic T 0.4939 0.4972 0.5210 3.5 1 228496014 OBSCN G A 31 0.213059 . . . . 0.2152 synonymous_SNV exonic . 0.1772 0.1819 0.1705 1.5 1 228497053 OBSCN A G 134 0.698682 . . . . . . intronic . . . 0.7154 1.5 1 228497066 OBSCN A G 1 0.000199681 . . . . . . intronic . . . . 6.5 1 228497286 OBSCN C A 6 0.0932508 . . . . 0.0227 . intronic . 0.0188 0.0218 0.0224 1.5 1 228503677 OBSCN A G 134 0.700879 -2.279 . . . 0.7111 nonsynonymous_SNV exonic T 0.7056 0.6950 0.7144 3.5 1 228503711 OBSCN G A 2 0.0129792 . . . . 0.0523 synonymous_SNV exonic . 0.0327 0.0380 0.0432 1.5 1 228503798 OBSCN G A 1 0.000399361 . . . . 0.0002 synonymous_SNV exonic . . 3.869e-05 . 6.5 1 228504373 OBSCN G A 1 0.000199681 . . . . 4.151e-05 . intronic . . 2.265e-05 6.685e-05 6.5 1 228504472 OBSCN T C 134 0.699281 -1.304 . . . 0.7040 nonsynonymous_SNV exonic T 0.7008 0.6982 0.7147 3.5 1 228504507 OBSCN G T 4 0.00499201 . . . . 0.0256 synonymous_SNV exonic . 0.0203 0.0220 0.0176 1.5 1 228504591 OBSCN C A 31 0.145367 1.476 . . . 0.2674 nonsynonymous_SNV exonic T 0.1672 0.1833 0.1681 3.5 1 228504669 OBSCN G A 31 0.145567 . . . . 0.2135 synonymous_SNV exonic . 0.1453 0.1818 0.1725 1.5 1 228504670 OBSCN C T 97 0.330272 3.693 . . . 0.5071 nonsynonymous_SNV exonic T 0.4398 0.4992 0.5236 3.5 1 228504701 OBSCN G GCTCC 134 0.699081 . . . . 0.6977 . intronic . 0.6286 0.6922 0.7129 1.5 1 228505204 OBSCN G A 37 0.315296 3.357 . . . 0.2095 nonsynonymous_SNV exonic T 0.1944 0.2031 0.1924 3.5 1 228505518 OBSCN C T 1 0.00159744 . . . . . . intronic . . . 0.0057 4 1 228505668 OBSCN C G 134 0.699281 0.755 . . . 0.7027 nonsynonymous_SNV exonic T 0.7016 0.6997 0.7146 3.5 1 228505699 OBSCN T C 134 0.705871 . . . . 0.7045 synonymous_SNV exonic . 0.7008 0.7007 0.7147 1.5 1 228505725 OBSCN A C 1 0.000399361 3.123 . . . 0.0018 nonsynonymous_SNV exonic T 0.0009 0.0007 0.0005 6 1 228505727 OBSCN C T 6 0.086262 2.382 . . . 0.0226 nonsynonymous_SNV exonic T 0.0186 0.0218 0.0222 3.5 1 228505739 OBSCN G A 31 0.173123 0.313 . . . 0.1804 nonsynonymous_SNV exonic T 0.1735 0.1780 0.1681 3.5 1 228505925 OBSCN G A 4 0.00519169 . . . . . . intronic . 0.0148 . 0.0172 1.5 1 228506661 OBSCN G A 6 0.0107827 . . . . 0.0592 synonymous_SNV exonic . 0.0230 0.0234 0.0184 1.5 1 228506768 OBSCN C T 1 0.000199681 1.693 . . . 0.0004 nonsynonymous_SNV exonic T 0.0005 0.0004 0.0007 6 1 228506965 OBSCN C T 1 0.000199681 . . . . . . intronic . . 3.485e-05 . 6.5 1 228509367 OBSCN G A 1 0.000199681 6.644 . . . 0.0003 nonsynonymous_SNV exonic T 0.0002 0.0003 0.0001 8.5 1 228509427 OBSCN A G 134 0.684704 -0.311 . . . 0.7021 nonsynonymous_SNV exonic T 0.6968 0.6995 0.7147 3.5 1 228511197 OBSCN G A 1 0.000199681 5.134 . . . . nonsynonymous_SNV exonic T . . . 8.5 1 228511240 OBSCN C T 1 0.000199681 . . . . 0.0002 synonymous_SNV exonic . 0.0002 0.0002 6.668e-05 6.5 1 228520538 OBSCN C T 1 0.000199681 . . . . 0.0016 . intronic . 0.0013 0.0012 0.0009 4 1 228520880 OBSCN C T 86 0.341853 . . . . 0.4551 . intronic . 0.4158 0.4122 0.4488 1.5 1 228520973 OBSCN C G 86 0.335064 1.995 . . . 0.4651 nonsynonymous_SNV exonic T 0.4179 0.4187 0.4485 3.5 1 228521002 OBSCN C A 1 0.000399361 . . . . 0.0036 synonymous_SNV exonic . 0.0010 0.0013 0.0011 4 1 228522357 OBSCN G A 11 0.00938498 . . . . . . intronic . . . 0.0220 1.5 1 228522483 OBSCN C T 5 0.034345 . . . . 0.0484 . intronic . 0.0328 0.0369 0.0369 1.5 1 228522509 OBSCN C A 1 0.000199681 . . . . 0.0001 . intronic . . 1.609e-05 . 6.5 1 228523005 OBSCN T TG 100 0.469449 . . . . 0.4474 . intronic . 0.4253 0.6301 0.6579 1.5 1 228523042 OBSCN T G,TG 100 0.344449 . . . . . . intronic . 0.4471 0.2518 0.5158 1.5 1 228523412 OBSCN G A 17 0.126797 . . . . . . intronic . . . 0.0942 1.5 1 228523442 OBSCN T C 103 0.478435 . . . . 0.5182 . intronic . 0.5171 0.5181 0.5408 1.5 1 228523447 OBSCN T C 175 0.813498 . . . . 0.8273 . intronic . 0.8251 0.8253 0.8306 1.5 1 228523448 OBSCN G A 86 0.352636 . . . . 0.4257 . intronic . 0.3968 0.4286 0.4463 1.5 1 228523596 OBSCN G A 3 0.000998403 . . . . 0.0002 . intronic . 0.0001 0.0003 6.67e-05 4 1 228523618 OBSCN G A 103 0.474241 . . . . . . intronic . 0.5195 . 0.5431 1.5 1 228523866 OBSCN C G 2 0.00119808 . . . . 0.0047 . intronic . 0.0031 0.0039 0.0021 4 1 228524642 OBSCN T C 5 0.0353435 . . . . . . intronic . . . 0.0373 1.5 1 228524671 OBSCN C T 1 0.000199681 . . . . 0.0012 . intronic . 0.0008 0.0011 0.0007 4 1 228524919 OBSCN G A 86 0.240016 . . . . 0.4286 . intronic . 0.4207 0.4276 0.4476 1.5 1 228524961 OBSCN C A 86 0.239816 . . . . 0.4306 synonymous_SNV exonic . 0.4226 0.4274 0.4482 1.5 1 228525008 OBSCN G A 25 0.0766773 4.879 . . . 0.1499 nonsynonymous_SNV exonic T 0.1356 0.1403 0.1305 6.5 1 228525627 OBSCN C A 86 0.240216 . . . . 0.4565 . intronic . 0.4221 0.4218 0.4463 1.5 1 228525689 OBSCN G A 1 0.000199681 . . . . 6.603e-05 synonymous_SNV exonic . . 4.51e-05 6.683e-05 6.5 1 228525799 OBSCN C A 1 0.000199681 16.481 . . . 1.619e-05 stopgain exonic . . 9.067e-06 . 11.5 1 228525823 OBSCN C T 1 0.000998403 6.985 . . . 0.0004 nonsynonymous_SNV exonic T 0.0004 0.0007 0.0005 6 1 228525898 OBSCN C G 103 0.538339 . . . . . . intronic\x3bintronic . . . 0.5470 1.5 1 228526011 OBSCN C T 25 0.117612 . . . . 0.1745 synonymous_SNV exonic . 0.1578 0.1490 0.1545 1.5 1 228526486 OBSCN G A 86 0.228435 . . . . . . intronic . . . 0.4473 1.5 1 228526578 OBSCN T A 3 0.00439297 4.894 . . . 0.0137 nonsynonymous_SNV exonic T 0.0095 0.0104 0.0106 3.5 1 228526653 OBSCN C A 1 0.00119808 1.750 . . . 0.0015 nonsynonymous_SNV exonic T 0.0015 0.0019 0.0007 6 1 228526665 OBSCN T C 103 0.494409 . . . . 0.5318 synonymous_SNV exonic . 0.5569 0.5179 0.5447 1.5 1 228527685 OBSCN C T 3 0.00259585 . . . . 0.0057 synonymous_SNV exonic . 0.0065 0.0062 0.0069 4 1 228527749 OBSCN C T 1 0.00858626 7.261 . . . 0.0013 nonsynonymous_SNV exonic T 0.0018 0.0016 0.0007 6 1 228527758 OBSCN G C 1 0.000399361 6.172 . . . 0.0006 nonsynonymous_SNV exonic T 0.0004 0.0007 0.0004 6 1 228527844 OBSCN T G 5 0.0297524 . . . . 0.0425 . intronic . 0.0352 0.0379 0.0358 1.5 1 228528412 OBSCN G A 86 0.351837 . . . . 0.4383 . intronic . 0.4247 0.4300 0.4487 1.5 1 228528563 OBSCN C G 103 0.538738 0.194 . . . 0.5577 nonsynonymous_SNV exonic T 0.5203 0.5185 0.5473 3.5 1 228528752 OBSCN A G 1 0.000199681 . . . . 7.543e-05 . intronic . . 3.347e-05 0 6.5 1 228529129 OBSCN C A 17 0.138179 . . . . 0.1101 . intronic . 0.0945 0.0990 0.1036 1.5 1 228538470 OBSCN C G 17 0.147764 . . . . . . intronic . . . 0.0971 1.5 1 228538568 OBSCN C G 1 0.00119808 5.894 . . . 0.0038 nonsynonymous_SNV exonic T 0.0041 0.0027 0.0022 6 1 228538635 OBSCN C T 1 0.000798722 6.415 . . . 0.0009 nonsynonymous_SNV exonic D 0.0006 0.0008 0.0007 8 1 228538968 OBSCN C T 24 0.139577 . . . . . . intronic . . . 0.1337 1.5 1 228538982 OBSCN G T 2 0.00379393 . . . . 0.0064 . intronic . 0.0046 0.0069 0.0052 4 1 228539034 OBSCN C T 1 0.000399361 . . . . 0.0032 synonymous_SNV exonic . 0.0012 0.0013 0.0012 4 1 228543800 OBSCN C T 17 0.172125 . . . . . . intronic . 0.0899 . 0.0976 1.5 1 228547256 OBSCN G A 17 0.147564 . . . . 0.1310 . intronic . 0.0836 0.0892 0.0962 1.5 1 228547769 OBSCN C T 3 0.00479233 . . . . 0.0176 synonymous_SNV exonic . 0.0106 0.0103 0.0110 1.5 1 228547901 OBSCN C T 82 0.298722 . . . . 0.2981 synonymous_SNV exonic . 0.3011 0.2996 0.2846 1.5 1 228548029 OBSCN C A 2 0.000399361 2.012 . . . 1.538e-05 nonsynonymous_SNV exonic T . 9.007e-06 . 8.5 1 228548094 OBSCN C G 1 0.000199681 2.418 . . . 1.561e-05 nonsynonymous_SNV exonic D . 9.059e-06 . 8.5 1 228548129 OBSCN T C 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 1 228548197 OBSCN G A 17 0.147764 -0.089 . . . 0.0996 nonsynonymous_SNV exonic T 0.0857 0.0907 0.0958 3.5 1 228548257 OBSCN G C 1 0.000199681 -0.317 . . . 3.467e-05 nonsynonymous_SNV exonic T . 4.614e-05 . 8.5 1 228548360 OBSCN G A 3 0.00199681 . . . . 0.0047 synonymous_SNV exonic . 0.0055 0.0047 0.0054 4 1 228550344 OBSCN G A 1 0.000199681 . . . . 0.0008 synonymous_SNV exonic . 0.0007 0.0007 0.0005 4 1 228550426 OBSCN C T 17 0.146965 -0.124 . . . 0.1364 nonsynonymous_SNV exonic T 0.0834 0.0910 0.0959 3.5 1 228550429 OBSCN C T 5 0.0443291 0.627 . . . 0.0622 nonsynonymous_SNV exonic T 0.0362 0.0374 0.0360 3.5 1 228552618 OBSCN C T 1 0.000199681 . . . . . . intronic . . . . 6.5 1 228554767 OBSCN G A 1 0.000199681 1.354 . . . 2.431e-05 nonsynonymous_SNV exonic T . 1.862e-05 . 8.5 1 228556014 OBSCN C T 1 0.00159744 . . . . 0.0023 . intronic . 0.0011 0.0010 0.0011 4 1 228556403 OBSCN C T 17 0.125599 . . . . 0.0941 . intronic . 0.0859 0.0902 0.0963 1.5 1 228556788 OBSCN C T 83 0.320487 . . . . 0.3910 . intronic . 0.3585 0.3722 0.3616 1.5 1 228556986 OBSCN G C 1 0.000599042 . . . . . . intronic . . . 0.0007 4 1 228557755 OBSCN G A 1 0.00239617 5.942 . . . 0.0025 nonsynonymous_SNV exonic T 0.0012 0.0023 0.0026 6 1 228557980 OBSCN T C 1 0.00199681 . . . . 0.0009 . intronic . 0.0010 0.0010 0.0012 4 1 228558307 OBSCN T C 1 0.000199681 . . . . . . intronic . . . . 6.5 1 228558389 OBSCN C T 1 0.000199681 4.526 . . . . nonsynonymous_SNV exonic T . . . 8.5 1 228558817 OBSCN C T 1 0.000399361 6.323 . . . 1.541e-05 nonsynonymous_SNV exonic T . 1.803e-05 0 8.5 1 228558892 OBSCN C T 12 0.033746 6.518 . . . 0.0775 nonsynonymous_SNV exonic T 0.0650 0.0658 0.0713 3.5 1 228558952 OBSCN T G 2 0.00219649 2.292 . . . 0.0158 nonsynonymous_SNV exonic T 0.0103 0.0092 0.0119 3.5 1 228558992 OBSCN CCA C 2 0.00199681 . . . . 0.0099 frameshift_deletion exonic . 0.0038 0.0051 0.0090 9 1 228559008 OBSCN C T 1 0.000399361 . . . . 0 synonymous_SNV exonic . . 0 0 6.5 1 228559430 OBSCN G A 7 0.0217652 -0.220 . . . 0.0364 nonsynonymous_SNV exonic T 0.0309 0.0366 0.0372 3.5 1 228559450 OBSCN G A 2 0.00199681 -0.731 . . . 0.0111 nonsynonymous_SNV exonic T 0.0077 0.0118 0.0099 3.5 1 228559654 OBSCN G A 5 0.00499201 1.765 . . . 0.0156 nonsynonymous_SNV exonic T 0.0152 0.0137 0.0112 3.5 1 228559967 OBSCN C T 4 0.00499201 2.939 . . . 0.0326 nonsynonymous_SNV exonic T 0.0136 0.0139 0.0110 3.5 1 228559994 OBSCN C T 99 0.589058 2.792 . . . 0.5975 nonsynonymous_SNV exonic T 0.5033 0.5120 0.4981 6.5 1 228560034 OBSCN C T 1 0.013778 . . . . 0.0016 synonymous_SNV exonic . 0.0005 0.0004 0.0009 1.5 1 228560139 OBSCN A G 187 0.974241 . . . . 0.9239 synonymous_SNV exonic . 0.9259 0.9205 0.9202 1.5 1 228560251 OBSCN G C 1 0.000199681 2.276 . . . 0 nonsynonymous_SNV exonic T . 0 . 8.5 1 228560700 OBSCN T C 124 0.757987 . . . . 0.5550 synonymous_SNV exonic . 0.5485 0.5490 0.5350 1.5 1 228561779 OBSCN C T 1 0.00179712 . . . . . . intronic . . . 0.0084 4 1 228562350 OBSCN T C 1 0.00519169 . . . . 0.0261 synonymous_SNV exonic . 0.0280 0.0253 0.0283 1.5 1 228562523 OBSCN C G 1 0.000199681 . . . . . . intronic . . . . 6.5 1 228563558 OBSCN C A 1 0.000599042 . . . . 0.0012 . intronic . 0.0011 0.0013 0.0013 4 1 228563748 OBSCN G A 1 0.000599042 6.122 . . . 0.0001 nonsynonymous_SNV exonic T . 0.0002 0.0001 6 1 228564757 OBSCN C T 1 0.00878594 6.283 . . . 0.0011 nonsynonymous_SNV exonic T 0.0004 0.0003 0.0003 6 1 228564796 OBSCN G A 1 0.000199681 4.260 . . . 8.461e-05 nonsynonymous_SNV exonic T . 8.583e-05 0 8.5 1 228564884 OBSCN G A 17 0.140775 1.749 . . . 0.1419 nonsynonymous_SNV exonic T 0.0847 0.0935 0.0981 3.5 1 228565208 OBSCN C T 2 0.0117812 . . . . 0.0437 synonymous_SNV exonic . 0.0354 0.0385 0.0430 1.5 1 228565209 OBSCN G A 1 0.00179712 7.258 . . . 0.0019 nonsynonymous_SNV exonic T 0.0010 0.0010 0.0004 6 1 228565255 OBSCN T C 1 0.000199681 5.069 . . . . nonsynonymous_SNV exonic D . . . 10.5 1 228565311 OBSCN G A 1 0.000199681 6.702 . . . 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0003 6.679e-05 8.5 1 228565329 OBSCN G A 4 0.00499201 3.334 . . . 0.0222 nonsynonymous_SNV exonic T 0.0231 0.0225 0.0180 3.5 1 228565445 OBSCN C A 17 0.124201 . . . . 0.0991 . intronic . 0.0852 0.0918 0.0962 1.5 1 228565556 OBSCN T G 3 0.00479233 . . . . . . intronic\x3bintronic . . . 0.0106 1.5 1 228565826 OBSCN T C 2 0.00279553 . . . . . . intronic\x3bintronic . . . 0.0163 1.5 1 228566528 OBSCN G A 1 0.000199681 . . . . 1.884e-05 . UTR3 . . 1.055e-05 . 6.5 1 229567663 ACTA1 C GG 43 . . MedGen:CN169374 not_specified Benign . . intronic . . . . 11 1 229567683 ACTA1 TC T 43 0.209465 . MedGen:CN169374 not_specified Benign 0.1544 . intronic\x3bintronic . 0.1609 0.1219 0.1627 1.5 1 229567826 ACTA1 G A 1 0.000199681 . . . . 7.734e-05 synonymous_SNV exonic . . 6.295e-05 6.674e-05 6.5 1 229568231 ACTA1 T G 213 0.999002 . . . . . . intronic . . . 0.9995 1.5 1 229568300 ACTA1 C A 1 0.000199681 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|Congenital_fiber-type_disproportion Uncertain_significance 4.903e-05 . intronic . 0.0002 6.478e-05 0.0001 6.5 1 229568632 ACTA1 A G 44 0.273962 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion Benign/Likely_benign 0.1808 . intronic . 0.1807 0.1743 0.1643 7.5 1 229568637 ACTA1 C G 44 0.211861 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion Benign/Likely_benign 0.1769 . intronic . 0.1751 0.1715 0.1622 7.5 1 236849952 ACTN2 C T 11 0.0115815 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0379 . UTR5 . 0.0399 0.0351 0.0323 2.75 1 236849999 ACTN2 A G 1 0.000599042 1.768 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0011 nonsynonymous_SNV exonic T 0.0008 0.0011 0.0014 11 1 236881185 ACTN2 C T 1 0.000199681 . . . . 0 synonymous_SNV exonic . 0.0001 0 . 6.5 1 236882303 ACTN2 T C 214 0.992612 . MedGen:CN169374 not_specified Benign 0.9999 synonymous_SNV exonic . 0.9998 1.0000 1 1.5 1 236883421 ACTN2 C T 214 0.920727 . MedGen:CN169374 not_specified Benign 0.9953 synonymous_SNV exonic . 0.9953 0.9951 0.9949 1.5 1 236883564 ACTN2 G A 214 0.922324 . . . . . . intronic . . . 0.9949 1.5 1 236883585 ACTN2 T G 4 0.00179712 . . . . . . intronic . . . 0.0069 5 1 236894647 ACTN2 G A 69 0.491613 . . . . 0.3134 . intronic . 0.3102 0.3086 0.2938 1.5 1 236894667 ACTN2 G A 1 0.000199681 . . . . . . intronic . 0.0006 . 0.0003 4 1 236899042 ACTN2 G A 25 0.195887 . MedGen:CN169374 not_specified Benign 0.1386 . intronic . 0.1356 0.1341 0.1276 1.5 1 236900334 ACTN2 C T 4 0.00119808 . . . . . . intronic . . . 0.0013 5 1 236900554 ACTN2 C T 4 0.00539137 . . . . 0.0236 . intronic . 0.0266 0.0230 0.0231 1.5 1 236900598 ACTN2 C T 158 0.531949 . . . . . . intronic . . . 0.5338 1.5 1 236902532 ACTN2 ATT A 8 0.0509185 . . . . . . intronic . . . 0.0580 1.5 1 236902560 ACTN2 C G,T 8 0.372404 . . . . 0.5993 . intronic . 0.6395 0.6062 0.6275 1.5 1 236902594 ACTN2 C G 172 0.767572 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7749 . intronic . 0.7763 0.7764 0.7852 2.75 1 236902865 ACTN2 A C 134 0.422724 . . . . 0.6659 . intronic . 0.6570 0.6665 0.6783 1.5 1 236907966 ACTN2 G A 3 0.0347444 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0113 synonymous_SNV exonic . 0.0144 0.0116 0.0109 4 1 236908011 ACTN2 C T 1 0.000399361 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736 Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0039 synonymous_SNV exonic . 0.0042 0.0031 0.0024 6.5 1 236908053 ACTN2 C T 1 0.000998403 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0013 synonymous_SNV exonic . 0.0019 0.0017 0.0016 9 1 236908144 ACTN2 T C 3 0.0189696 . . . . . . intronic . . . 0.0103 1.5 1 236911045 ACTN2 G A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 6.146e-05 synonymous_SNV exonic . . 8.956e-05 6.662e-05 6.5 1 236911122 ACTN2 C T 7 0.0782748 . . . . 0.0403 . intronic . 0.0324 0.0361 0.0384 1.5 1 236911137 ACTN2 A G 19 0.10623 . . . . . . intronic . . . 0.0646 1.5 1 236912597 ACTN2 A G 25 0.189896 . . . . 0.1042 . intronic . 0.1073 0.1005 0.0948 1.5 1 236912622 ACTN2 T A 1 0.000199681 . . . . . . intronic . . . . 6.5 1 236914738 ACTN2 ATTGT A 6 0.0145767 . . . . 0.0317 . intronic . 0.0320 0.0304 0.0299 1.5 1 236914754 ACTN2 T C 4 0.00119808 . MedGen:C2677338,OMIM:612158|MedGen:CN169374 Dilated_cardiomyopathy_1AA|not_specified Benign 0.0018 . intronic . 0.0014 0.0019 0.0013 5.625 1 236914923 ACTN2 A G 1 0.0195687 0.771 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0005 nonsynonymous_SNV exonic T 0.0014 0.0005 0.0005 6 1 236920782 ACTN2 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 1 236920960 ACTN2 A G 1 0.0215655 . . . . 0.0005 . intronic . 0.0015 0.0006 0.0005 1.5 1 236923197 ACTN2 C T 25 0.0664936 . . . . . . intronic . . . 0.0627 1.5 1 236924506 ACTN2 A G 188 0.798123 . . . . 0.8880 . intronic . 0.8909 0.8915 0.8953 1.5 1 236925844 ACTN2 G A 32 0.196086 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1447 synonymous_SNV exonic . 0.1392 0.1441 0.1429 2.75 1 237205759 RYR2 G T 1 0.000599042 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiomyopathy,_ARVC Uncertain_significance . . UTR5 . . . 0.0005 4 1 237205892 RYR2 G A 1 0.000998403 . . . . 0.0018 . intronic . 0.0016 0.0015 0.0022 4 1 237519165 RYR2 G T 53 0.186901 . . . . . . intronic . . . 0.2209 1.5 1 237527551 RYR2 A G 8 0.0103834 . . . . . . intronic . . . 0.0185 1.5 1 237532763 RYR2 T G 3 0.0189696 . . . . . . intronic . . . 0.0404 1.5 1 237532860 RYR2 A G 1 0.000199681 . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Likely_benign 8.154e-05 synonymous_SNV exonic . . 4.259e-05 . 6.5 1 237532996 RYR2 G A 2 0.000399361 . . . . . . intronic . . . 0.0001 6.5 1 237540615 RYR2 A C 55 0.362819 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.2482 . intronic . 0.2293 0.2366 0.2498 1.5 1 237551298 RYR2 C T 1 0.000399361 . . . . . . intronic . . . 0.0003 6.5 1 237551376 RYR2 T A 120 0.55651 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.5716 . intronic . 0.5597 0.5652 0.5458 1.5 1 237586384 RYR2 T C 24 0.170128 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.1016 . intronic . 0.0985 0.0994 0.0891 1.5 1 237586449 RYR2 A T 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 1 237608663 RYR2 A G 2 0.000399361 . . . . 0.0002 . intronic . 0.0004 0.0002 6.668e-05 6.5 1 237608842 RYR2 C T 3 0.00658946 . MedGen:CN169374 not_specified Benign 0.0077 . intronic . 0.0060 0.0084 0.0077 4 1 237617757 RYR2 C T 125 0.535743 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.5907 synonymous_SNV exonic . 0.6005 0.5953 0.5988 1.5 1 237619875 RYR2 ATT ATTT,ATTTT,AT,A 125 0.0127796 . . . . 0.0165 . intronic . . 0.0150 0.0004 1.5 1 237619971 RYR2 T C 2 0.000399361 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0008 synonymous_SNV exonic . 0.0010 0.0009 0.0007 4 1 237620049 RYR2 T C 118 0.53115 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.5449 . intronic . 0.5441 0.5458 0.5521 1.5 1 237620108 RYR2 G A 1 0.000199681 . . . . . . intronic . . . . 6.5 1 237632512 RYR2 T C 1 0.00299521 . . . . 0.0081 . intronic . 0.0092 0.0089 0.0080 4 1 237632514 RYR2 G T 1 0.000199681 . . . . . . intronic . . . . 6.5 1 237655057 RYR2 C T 1 0.00139776 . . . . 0.0018 . intronic . 0.0022 0.0019 0.0015 4 1 237655173 RYR2 A T 8 0.0215655 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0369 synonymous_SNV exonic . 0.0180 0.0244 0.0229 1.5 1 237655267 RYR2 T C 6 0.00399361 . . . . 0.0143 . intronic . 0.0049 0.0182 0.0131 1.5 1 237656185 RYR2 A G 80 0.396565 . . . . . . intronic . . . 0.0002 1.5 1 237656289 RYR2 C T 2 0.00219649 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0117 synonymous_SNV exonic . 0.0083 0.0072 0.0052 1.5 1 237664004 RYR2 C G 5 0.00459265 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0124 . intronic . 0.0124 0.0122 0.0180 1.5 1 237670140 RYR2 A G 143 0.699481 . MedGen:CN169374 not_specified Benign 0.6691 . intronic . 0.6578 0.6648 0.6682 1.5 1 237670190 RYR2 C T 1 0.00119808 . . . . . . intronic . . . 6.664e-05 4 1 237675150 RYR2 A AG 55 0.343251 . . . . . . intronic . . . 0.1647 1.5 1 237675152 RYR2 A C 1 0.00239617 . . . . . . intronic . . . 0.0079 4 1 237675163 RYR2 G A 81 0.295327 . . . . . . intronic . . . 0.4248 1.5 1 237693662 RYR2 C T 3 0.0323482 . . . . . . intronic . . . 0.0092 1.5 1 237711797 RYR2 A G 201 0.830272 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9594 synonymous_SNV exonic . 0.9585 0.9589 0.9567 1.5 1 237730059 RYR2 C T 1 0.00239617 2.658 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0114 nonsynonymous_SNV exonic T 0.0130 0.0124 0.0149 3.5 1 237730124 RYR2 A G 205 0.905551 . MedGen:CN169374 not_specified Benign 0.9738 . intronic . 0.9754 0.9734 0.9705 1.5 1 237732395 RYR2 G A 150 0.492812 . MedGen:CN169374 not_specified Benign 0.7159 . intronic . 0.7105 0.7128 0.7083 1.5 1 237732617 RYR2 A G 1 0.000199681 4.237 MedGen:CN169374 not_specified Uncertain_significance 1.679e-05 nonsynonymous_SNV exonic T . 9.003e-06 . 8.5 1 237732673 RYR2 C T 1 0.0197684 . . . . . . intronic . . . 0.0509 1.5 1 237732684 RYR2 T C 1 0.000199681 . . . . . . intronic . . . . 6.5 1 237753074 RYR2 AT ATT,A 1 0.285144 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign/Likely_benign 0.4969 . intronic . 0.4430 0.4791 0.4511 1.5 1 237753364 RYR2 A C 101 0.336861 . . . . . . intronic . . . 0.4898 1.5 1 237754020 RYR2 C T 1 0.000599042 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0012 synonymous_SNV exonic . 0.0008 0.0011 0.0008 4 1 237754340 RYR2 A G 100 0.33746 . MedGen:CN169374 not_specified Benign 0.4827 . intronic . 0.4731 0.4808 0.4867 1.5 1 237754963 RYR2 A G 6 0.0071885 . . . . . . intronic . . . 0.0272 1.5 1 237755076 RYR2 A G 6 0.0071885 1.769 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0242 nonsynonymous_SNV exonic T 0.0218 0.0234 0.0272 3.5 1 237755188 RYR2 C T 100 0.335863 . MedGen:CN169374 not_specified Benign 0.5057 . intronic . 0.4748 0.4825 0.4876 1.5 1 237755203 RYR2 T C 100 0.33746 . MedGen:CN169374 not_specified Benign 0.4833 . intronic . 0.4624 0.4824 0.4900 1.5 1 237759023 RYR2 C T 1 0.000199681 . . . . . . intronic . . . . 6.5 1 237765458 RYR2 G T 1 0.000199681 . . . . . . intronic . . . . 6.5 1 237765470 RYR2 A T 96 0.293131 . . . . . . intronic . 0.4598 . 0.4728 1.5 1 237774017 RYR2 A G 2 0.00159744 . . . . 0.0064 . intronic . 0.0037 0.0054 0.0052 4 1 237778082 RYR2 G A 6 0.00978435 -1.771 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0237 nonsynonymous_SNV exonic T 0.0234 0.0264 0.0280 3.5 1 237778084 RYR2 G A 7 0.076278 0.814 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0307 nonsynonymous_SNV exonic T 0.0311 0.0308 0.0263 3.5 1 237780803 RYR2 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 1 237794913 RYR2 A ATT 77 0.553315 . . . . . . intronic . . . . 1.5 1 237796837 RYR2 G A 64 0.428514 . MedGen:CN169374 not_specified Benign 0.3291 . intronic . 0.3323 0.3354 0.3469 1.5 1 237796850 RYR2 A G 7 0.155152 . MedGen:CN169374 not_specified Benign 0.0623 . intronic . 0.0561 0.0586 0.0606 1.5 1 237797082 RYR2 T G 64 0.440695 . . . . . . intronic . . . 0.3472 1.5 1 237798342 RYR2 G A 17 0.029353 . MedGen:CN169374 not_specified Likely_benign 0.1169 . intronic . 0.1161 0.1135 0.1211 1.5 1 237801770 RYR2 T C 214 0.954872 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9994 0.9998 0.9999 1.5 1 237802559 RYR2 T C 214 0.998203 . . . . . . intronic . . . 0.9999 1.5 1 237806606 RYR2 G GT 1 0.0129792 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0007 . intronic . 0.0006 0.0010 0.0004 1.5 1 237806819 RYR2 G A 23 0.14357 . . . . . . intronic . . . 0.0979 1.5 1 237811766 RYR2 C T 2 0.00159744 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0081 synonymous_SNV exonic . 0.0067 0.0060 0.0065 4 1 237811896 RYR2 G A 1 0.000399361 7.278 . . . 0.0003 nonsynonymous_SNV exonic D 0.0001 0.0001 6.665e-05 10.5 1 237813126 RYR2 A G 92 0.573083 . . . . . . intronic . . . 0.4504 1.5 1 237814783 RYR2 C T 91 0.554912 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.4739 synonymous_SNV exonic . 0.4361 0.4232 0.4477 1.5 1 237814843 RYR2 C T 1 0.00219649 . . . . . . intronic . . . . 4 1 237817514 RYR2 GA G 40 0.447484 . . . . . . intronic . . . 0.2622 1.5 1 237817784 RYR2 A G 33 0.353435 . . . . . . intronic . . . 0.2122 1.5 1 237823256 RYR2 A C 12 0.0407348 . MedGen:CN169374 not_specified Benign 0.0776 . intronic . 0.0530 0.0532 0.0522 1.5 1 237823258 RYR2 A C 1 0.000199681 . . . . 2.421e-05 . intronic . . 1.065e-05 . 6.5 1 237829952 RYR2 G A 2 0.00119808 . . . . . . intronic . 0.0041 . 0.0023 4 1 237831103 RYR2 C A 214 0.952077 . . . . . . intronic . . . 0.9998 1.5 1 237831365 RYR2 C T 1 0.000998403 . . . . . . intronic . . . 0.0031 4 1 237838001 RYR2 G A 2 0.00179712 . . . . 0.0142 . intronic . 0.0079 0.0103 0.0134 1.5 1 237841339 RYR2 A C 1 0.000199681 . Human_Phenotype_Ontology:HP:0001627,MedGen:C4021866|Human_Phenotype_Ontology:HP:0001688,MedGen:C0085610|Human_Phenotype_Ontology:HP:0001714,MedGen:C0340279|Human_Phenotype_Ontology:HP:0005184,MedGen:C1560305|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0012630,MedGen:C4022814|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Abnormal_heart_morphology|Sinus_bradycardia|Ventricular_hypertrophy|Prolonged_QTc_interval|Left_ventricular_noncompaction_cardiomyopathy|Abnormality_of_the_trabecular_meshwork|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Conflicting_interpretations_of_pathogenicity 0.0006 . intronic . 0.0001 0.0004 0.0003 6.5 1 237841390 RYR2 A G 54 0.0992412 2.365 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.3459 nonsynonymous_SNV exonic T 0.3042 0.3066 0.3170 3.5 1 237841393 RYR2 A C 1 0.000199681 4.217 . . . 6.431e-05 nonsynonymous_SNV exonic D . 2.775e-05 . 8.5 1 237850666 RYR2 C CT 151 0.561102 . . . . . . intronic . . . . 1.5 1 237850703 RYR2 C T 6 0.00559105 . . . . . . intronic . . 0 0 5 1 237850729 RYR2 C T 10 0.00958466 . . . . . . intronic . . 1.195e-05 . 6 1 237850816 RYR2 C T 1 0.000399361 . MedGen:CN169374 not_specified Benign 0.0025 . intronic . 0.0024 0.0023 0.0020 4 1 237862360 RYR2 A G 1 0.000199681 . . . . . . intronic . . 3.604e-05 6.67e-05 6.5 1 237862421 RYR2 T A 1 0.000199681 . . . . . . intronic . . . 0.0013 4 1 237862436 RYR2 T C 155 0.727436 . . . . . . intronic . . . 0.7516 1.5 1 237863718 RYR2 T G 214 0.969249 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9994 synonymous_SNV exonic . 0.9995 0.9994 0.9993 1.5 1 237865203 RYR2 C T 214 0.969249 . . . . . . intronic . . . 0.9994 1.5 1 237865451 RYR2 C T 1 0.000199681 . . . . . . intronic . . . . 6.5 1 237870203 RYR2 C T 6 0.00579073 . . . . 0.0106 . intronic . 0.0128 0.0113 0.0091 1.5 1 237870542 RYR2 G A 1 0.000199681 4.327 . . . 2.619e-05 nonsynonymous_SNV exonic D . 1.011e-05 6.662e-05 8.5 1 237872714 RYR2 GT G 208 0.765974 . . . . . . intronic . . . 0.9875 1.5 1 237872887 RYR2 T C 6 0.00938498 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Uncertain_significance 0.0186 . intronic . 0.0166 0.0153 0.0114 1.5 1 237875040 RYR2 C T 1 0.000599042 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0014 . intronic . 0.0004 0.0007 6.661e-05 4 1 237875068 RYR2 C T 1 0.00339457 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0054 synonymous_SNV exonic . 0.0033 0.0039 0.0030 4 1 237880443 RYR2 G A 1 0.00159744 . . . . . . intronic . . . 0.0017 4 1 237881770 RYR2 C T 214 0.960463 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9995 synonymous_SNV exonic . 0.9995 0.9995 0.9995 1.5 1 237890437 RYR2 C T 214 0.960264 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9994 synonymous_SNV exonic . 0.9995 0.9995 0.9995 1.5 1 237893674 RYR2 C T 214 0.985224 . MedGen:CN169374 not_specified Benign 0.9999 . intronic . 0.9998 0.9998 0.9998 1.5 1 237905520 RYR2 A G 1 0.000599042 . . . . . . intronic . . . 0.0010 4 1 237905568 RYR2 T TC 61 0.195088 . . . . 0.2428 . intronic . 0.2912 0.2072 0.2776 1.5 1 237905586 RYR2 A T 1 0.0081869 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiomyopathy,_ARVC Likely_benign 0.0001 . intronic . . 0.0005 0.0012 4 1 237923053 RYR2 C T 147 0.761581 . MedGen:CN169374 not_specified Benign 0.6849 . intronic . 0.6923 0.6833 0.6808 1.5 1 237923243 RYR2 A G 18 0.0930511 . . . . . . intronic . . . 0.1046 1.5 1 237934206 RYR2 C T 2 0.0061901 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Conflicting_interpretations_of_pathogenicity 0.0229 . intronic . 0.0227 0.0285 0.0295 1.5 1 237941906 RYR2 C A 6 0.00978435 . . . . . . intronic . . . 0.0123 1.5 1 237941945 RYR2 G A 7 0.0445288 . MedGen:CN169374 not_specified Likely_benign 0.0427 . intronic . 0.0458 0.0452 0.0483 1.5 1 237942082 RYR2 AACTG A 6 0.00978435 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0141 . intronic . 0.0158 0.0153 0.0123 1.5 1 237944814 RYR2 C T 21 0.121006 . . . . . . intronic . 0.0998 . 0.0803 1.5 1 237946964 RYR2 T C 65 0.414736 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.4541 . intronic . 0.3387 0.3349 0.3411 1.5 1 237947000 RYR2 C T 6 0.0123802 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0170 synonymous_SNV exonic . 0.0173 0.0154 0.0130 1.5 1 237948286 RYR2 A G 4 0.0107827 0.618 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0147 . intronic . 0.0092 0.0107 0.0080 1.5 1 237949440 RYR2 C G 1 0.000199681 . . . . . . intronic . . . 6.661e-05 6.5 1 237949456 RYR2 T C 15 0.0407348 . . . . . . intronic . . . 0.0565 1.5 1 237951226 RYR2 A G 2 0.0397364 . . . . . . intronic . . . 0.0362 1.5 1 237951451 RYR2 A G 113 0.636581 . MedGen:CN169374 not_specified Benign 0.5490 . intronic . 0.5443 0.5343 0.5375 1.5 1 237951482 RYR2 G A 62 0.297923 . MedGen:CN169374 not_specified Benign 0.2895 . intronic . 0.2861 0.2935 0.2820 1.5 1 237955364 RYR2 A G 14 0.0535144 . MedGen:C4053736,OMIM:604772|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified Benign 0.0410 . intronic . 0.0312 0.0334 0.0313 1.5 1 237955649 RYR2 CTGTG C 107 0.528155 . . . . 0.4694 . intronic . . 0.4128 0.3941 1.5 1 237955678 RYR2 T C 107 0.528155 . . . . . . intronic . . . 0.3936 1.5 1 237955680 RYR2 T C 107 0.528155 . . . . . . intronic . . . 0.3904 1.5 1 237957146 RYR2 G A 125 0.734026 . MedGen:CN169374 not_specified Benign 0.6639 . intronic . 0.6579 0.6539 0.6755 1.5 1 237957161 RYR2 A G 127 0.757588 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.6873 . intronic . 0.6785 0.6791 0.6941 1.5 1 237957309 RYR2 A C 123 0.750799 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.6717 . intronic . 0.6684 0.6715 0.6851 1.5 1 237958750 RYR2 A AT 109 0.647764 . . . . . . intronic . . . 0.6679 1.5 1 237961297 RYR2 A ATGGTTGTGGTTG 5 0.00938498 . . . . . . intronic . . . . 5 1 237965065 RYR2 C T 1 0.000199681 . . . . . . intronic . . . . 6.5 1 237965094 RYR2 G T 80 0.46226 . . . . . . intronic . . . 0.4195 1.5 1 237965131 RYR2 G A 80 0.405152 . MedGen:CN169374 not_specified Benign 0.4133 . intronic . 0.4032 0.4023 0.4134 1.5 1 237965133 RYR2 A AT 70 0.377995 . MedGen:CN169374 not_specified Likely_benign 0.3304 . intronic . . 0.3480 0.3764 1.5 1 237969638 RYR2 A G 35 0.28774 . . . . . . intronic . . . 0.2112 1.5 1 237972148 RYR2 C A 1 0.000199681 . . . . . . intronic . . . . 6.5 1 237972152 RYR2 T C 4 0.0091853 . . . . 0.0087 . intronic . 0.0078 0.0090 0.0074 5 1 237972189 RYR2 A G 4 0.0091853 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0087 . intronic . 0.0078 0.0090 0.0074 5 1 237991614 RYR2 G C 1 0.00179712 . . . . . . intronic . 0.0060 . 0.0089 4 1 237991767 RYR2 T C 5 0.00938498 . . . . 0.0111 . intronic . 0.0072 0.0091 0.0082 1.5 1 237991862 RYR2 TG T 10 0.0209665 . . . . . . intronic . . . 0.0739 1.5 1 237993743 RYR2 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 1 237993798 RYR2 C T 3 0.00159744 . . . . 0.0040 . intronic . 0.0037 0.0033 0.0029 4 1 237994957 RYR2 G A 1 0.158347 . . . . . . intronic . . . 0.0061 1.5 1 237996016 RYR2 C G 1 0.000199681 . . . . . . UTR3 . . . . 6.5 20 30407387 MYLK2 G A 4 0.00119808 4.332 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0015 nonsynonymous_SNV exonic T 0.0016 0.0017 0.0030 9.5 20 30408306 MYLK2 C G 7 0.00838658 4.119 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Conflicting_interpretations_of_pathogenicity 0.0194 nonsynonymous_SNV exonic T 0.0202 0.0212 0.0203 6 20 30409207 MYLK2 G A 1 0.000599042 . . . . 0 . intronic . . 9.153e-06 0 4 20 30409452 MYLK2 T C 23 0.0720847 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0791 synonymous_SNV exonic . 0.0802 0.0781 0.0654 1.5 20 30409573 MYLK2 C T 23 0.071885 . . . . 0.0786 . intronic . 0.0706 0.0744 0.0639 1.5 20 30409584 MYLK2 G C 14 0.0549121 . . . . 0.1258 . intronic . 0.1195 0.1264 0.1177 1.5 20 30411427 MYLK2 T C 23 0.0720847 . . . . 0.0792 . intronic . 0.0802 0.0784 0.0654 1.5 20 30412101 MYLK2 C T 1 0.00599042 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Benign 0.0163 synonymous_SNV exonic . 0.0193 0.0171 0.0163 2.125 20 30414334 MYLK2 G A 23 0.0720847 . . . . . . intronic . . . 0.0650 1.5 20 30414503 MYLK2 C T 5 0.00499201 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Conflicting_interpretations_of_pathogenicity 0.0157 synonymous_SNV exonic . 0.0185 0.0163 0.0132 4 20 30414528 MYLK2 G A 5 0.00958466 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0300 . intronic . 0.0265 0.0281 0.0257 1.5 20 30414560 MYLK2 C G 23 0.0720847 . . . . 0.0789 . intronic\x3bintronic . 0.08 0.0782 0.0654 1.5 20 30414578 MYLK2 G A 7 0.0201677 . . . . 0.0432 . intronic\x3bintronic . 0.0469 0.0444 0.0400 1.5 20 30414621 MYLK2 C T 1 0.0081869 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Benign/Likely_benign 0.0230 synonymous_SNV exonic . 0.0216 0.0244 0.0287 2.75 20 30418996 MYLK2 G A 4 0.00179712 . . . . 0.0048 . intronic . 0.0048 0.0044 0.0055 5 20 30419595 MYLK2 C T 1 0.000199681 5.477 . . . 1.498e-05 nonsynonymous_SNV exonic T . 1.79e-05 . 8.5 20 30419954 MYLK2 A G 23 0.0722843 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0912 . intronic . 0.0755 0.0747 0.0637 1.5 20 30421459 MYLK2 C T 44 0.222444 . . . . . . intronic . 0.2040 . 0.2227 7.5 20 31996336 SNTA1 T G 2 0.0365415 3.397 . . . 3.014e-05 nonsynonymous_SNV exonic D . 1.796e-05 . -0.5 20 32000351 SNTA1 A G 144 0.6877 . . . . 0.6942 . intronic . 0.6893 0.6956 0.6878 -2.5 20 32000462 SNTA1 C T 2 0.0071885 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0139 synonymous_SNV exonic . 0.0195 0.0153 0.0178 -2.5 20 32000520 SNTA1 G C 2 0.000998403 4.849 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2751830,OMIM:612955|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_12|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0033 nonsynonymous_SNV exonic T 0.0030 0.0033 0.0039 2 20 32031206 SNTA1 G A 2 0.000599042 1.143 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2751830,OMIM:612955|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_12|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0029 nonsynonymous_SNV exonic T . 0.0042 0.0038 2 20 32031227 SNTA1 G A 1 0.000199681 1.553 MedGen:CN517202 not_provided Uncertain_significance . nonsynonymous_SNV exonic T . 0 . 4.5 20 42743454 JPH2 A G 66 0.257388 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.3485 synonymous_SNV exonic . 0.3065 0.2967 0.3031 2.125 20 42743559 JPH2 G A 1 0.000199681 . . . . 0 . intronic . . 0 . 6.5 20 42743616 JPH2 G C 6 0.00499201 . . . . . . intronic . . . 0.0140 1.5 20 42744265 JPH2 G C 14 0.104433 . . . . 0.0737 . intronic . 0.0740 0.0727 0.0732 1.5 20 42744587 JPH2 G C 51 0.152955 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.2759 synonymous_SNV exonic . 0.1887 0.2230 0.2293 2.125 20 42744802 JPH2 C T 3 0.0153754 0.202 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.0368 nonsynonymous_SNV exonic T 0.004 0.0050 0.0081 4.125 20 42745033 JPH2 G A 4 0.00738818 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign 0.0269 . intronic . . 0.0308 0.0320 2.125 20 42747247 JPH2 C T 28 0.270367 5.490 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.1362 nonsynonymous_SNV exonic T 0.1290 0.1342 0.1291 4.125 20 42747254 JPH2 G A 25 0.048722 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.0937 synonymous_SNV exonic . 0.1027 0.0951 0.1001 2.125 20 42789053 JPH2 G A 1 0.00199681 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign 0.0032 . intronic . 0.0021 0.0027 0.0021 4.625 20 42789056 JPH2 G C 1 0.00299521 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign 0.0068 . intronic . 0.0027 0.0045 0.0055 4.625 20 42806581 JPH2 G A 1 0.000199681 . . . . 1.498e-05 . UTR3 . . 3.658e-05 0 6.5 20 42806597 JPH2 C T 1 0.000399361 . . . . 1.498e-05 . UTR3 . . 9.148e-06 0 6.5 20 42814931 JPH2 T C 175 0.862819 . . . . 0.8271 . intronic . 0.8244 0.8241 0.8306 1.5 20 42815190 JPH2 G A 175 0.854233 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.8316 synonymous_SNV exonic . 0.8293 0.8292 0.8375 2.125 20 61039958 GATA5 T C 100 0.629193 . . . . 0.5152 synonymous_SNV exonic . 0.5094 0.5142 0.5374 -2.5 20 61040014 GATA5 C T 1 0.000399361 1.651 . . . 0.0001 nonsynonymous_SNV exonic D 0.0002 7.487e-05 6.746e-05 4.5 20 61040453 GATA5 C G 94 0.534545 . . . . 0.4912 synonymous_SNV exonic . 0.4841 0.4921 0.5042 -2.5 20 61040951 GATA5 C T 95 0.529553 . . . . 0.5459 synonymous_SNV exonic . 0.4776 0.4787 0.4993 -2.5 20 61040991 GATA5 C T 1 0.000199681 . . . . 0.0002 . intronic . 0.0002 0.0001 0.0003 2.5 20 61041422 GATA5 C T 1 0.000399361 . . . . . . intronic . . . . 2.5 20 61041640 GATA5 G A 1 0.000599042 . . . . 0.0019 . intronic . 0.0010 0.0015 0.0009 0 20 61041651 GATA5 G A 1 0.000199681 . . . . 0.0003 . intronic . . 0.0002 . 2.5 20 61041653 GATA5 G C 94 0.420327 . . . . 0.4323 . intronic . 0.3733 0.4111 0.4132 -2.5 20 61048460 GATA5 A G 2 0.00219649 3.750 . . . 0.0033 nonsynonymous_SNV exonic D 0.0014 0.0021 0.0016 2 20 61048549 GATA5 G A 94 0.388179 . . . . 0.4679 synonymous_SNV exonic . 0.4344 0.4383 0.4330 -2.5 20 61050082 GATA5 C T 1 0.00239617 2.628 . . . 0 nonsynonymous_SNV exonic T 0.0001 8.473e-05 0 2 20 61050154 GATA5 A G 1 0.000599042 4.737 MedGen:CN169374 not_specified Uncertain_significance 0.0042 nonsynonymous_SNV exonic D 0.0002 0.0001 0.0005 2 20 61050379 GATA5 T G 35 0.142572 0.113 . . . 0.2407 nonsynonymous_SNV exonic T . 0.1733 0.1805 -0.5 20 61050552 GATA5 G C 1 0.000998403 1.970 . . . 0 nonsynonymous_SNV exonic D . 0 . 2 20 61050625 GATA5 G A 5 0.101837 . . . . 0.0279 . intronic . 0.0070 0.0118 0.0090 -2.5 21 35742722 KCNE2 C T 34 0.286941 . . . . . . intronic . . . 0.1445 1.5 21 35742750 KCNE2 A G 4 0.0744808 . MedGen:CN169374 not_specified Benign 0.0275 . intronic . 0.0316 0.0291 0.0288 1.5 21 35742947 KCNE2 T C 2 0.000798722 5.453 MedGen:C0003811,OMIM:115000|MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiac_arrhythmia|Long_QT_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0011 nonsynonymous_SNV exonic D 0.0002 0.0011 0.0001 8 21 35821609 KCNE1 G A 1 0.000199681 . . . . 3.03e-05 synonymous_SNV exonic . . 1.793e-05 . 2.5 21 35821680 KCNE1 C T 1 0.00379393 2.892 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C3150956|MedGen:C3150957|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Long_QT_syndrome_5,_acquired,_susceptibility_to|Long_QT_syndrome_2/5|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity,_other,_risk_factor 0.0132 nonsynonymous_SNV exonic T 0.0122 0.0125 0.0103 -0.5 21 35821821 KCNE1 T C 127 0.673922 -1.420 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2751629,OMIM:613035|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Hearing_loss,_noise-induced,_susceptibility_to|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign 0.6443 nonsynonymous_SNV exonic T 0.6369 0.6420 0.6458 -0.5 21 35821849 KCNE1 C T 1 0.00379393 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0051 synonymous_SNV exonic . 0.0056 0.0055 0.0049 0 21 35821939 KCNE1 C T 1 0.000399361 0.846 . . . 0 . UTR5 . . 0 . 2.5 22 19864694 TXNRD2 C T 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 0.0005 unknown exonic . 0.0001 0.0001 0.0003 4 22 19865925 TXNRD2 C T 1 0.000199681 . . . . 0 unknown exonic . . 8.952e-06 . 6.5 22 19867771 TXNRD2 C T 41 0.269169 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1620 unknown exonic . 0.1615 0.1619 0.1510 4.5 22 19868218 TXNRD2 A G 162 0.718251 2.110 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.7400 unknown exonic T 0.7377 0.7391 0.7310 1.5 22 19868228 TXNRD2 G A 1 0.0169728 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0044 unknown exonic . 0.0044 0.0039 0.0021 2.125 22 19868255 TXNRD2 AG A 42 0.156749 . MedGen:CN169374 not_specified Benign 0.1660 . intronic . 0.1610 0.1565 0.1480 1.5 22 19870831 TXNRD2 C T 68 0.221645 . MedGen:CN169374 not_specified Benign 0.3069 . intronic . 0.2962 0.3038 0.3008 4.5 22 19871018 TXNRD2 C T 1 0.000199681 . . . . 1.503e-05 . intronic . 0.0001 8.964e-06 . 6.5 22 19882984 TXNRD2 T G 32 0.251198 -1.829 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1665 nonsynonymous_SNV exonic T 0.1662 0.1666 0.1572 9.5 22 19883123 TXNRD2 C T 1 0.000399361 . MedGen:CN169374 not_specified Likely_benign 0.0009 . intronic . 0.0004 0.0009 0.0006 4 22 19885548 TXNRD2 G T 32 0.242212 . MedGen:CN169374 not_specified Benign 0.2105 . intronic . 0.1568 0.1687 0.1568 7.5 22 19898818 TXNRD2 C A 1 0.0483227 . . . . . . intronic . . . 0.0186 4.5 22 19898837 TXNRD2 A G 116 0.751198 . . . . . . intronic . 0.5632 . 0.5662 1.5 22 19898886 TXNRD2 C T 18 0.171526 . MedGen:CN169374 not_specified Benign 0.0908 . intronic . 0.0903 0.0908 0.1058 1.5 22 19898887 TXNRD2 G A 1 0.048123 . MedGen:CN169374 not_specified Benign 0.0194 . intronic . 0.0214 0.0205 0.0185 4.5 22 19899061 TXNRD2 G C 1 0.0483227 . . . . . . intronic . . . 0.0184 4.5 22 19902671 TXNRD2 C T 8 0.0585064 . . . . . . intronic . 0.0525 . 0.0408 4.5 22 19902896 TXNRD2 C T 76 0.507987 . . . . . . intronic . . . 0.3803 1.5 22 19905802 TXNRD2 G A 114 0.7498 . . . . . . intronic . 0.5597 . 0.5638 1.5 22 19906367 TXNRD2 G T 1 0.00259585 . MedGen:CN169374 not_specified Benign 0.0004 . intronic . 0.0007 0.0005 0.0001 4 22 19906370 TXNRD2 G A 7 0.0297524 . MedGen:CN169374 not_specified Benign 0.0248 . intronic . 0.0297 0.0276 0.0226 1.5 22 19906511 TXNRD2 G A 30 0.168131 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1510 synonymous_SNV exonic . 0.1476 0.1457 0.1431 4.5 22 19907099 TXNRD2 C A 76 0.483027 6.178 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.4078 nonsynonymous_SNV exonic T 0.3312 0.3327 0.3772 3.5 22 19907118 TXNRD2 G A 105 0.596845 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.5426 synonymous_SNV exonic . 0.4793 0.4826 0.5193 1.5 22 19907192 TXNRD2 A G 113 0.754393 . . . . . . intronic . 0.5575 . 0.5641 1.5 22 19918723 TXNRD2 G A 10 0.0107827 . . . . . . intronic . . . 0.0289 1.5 2 39224112 SOS1 T C 1 0.000599042 1.576 MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Rasopathy|not_specified Benign 0.0030 nonsynonymous_SNV exonic T 0.0028 0.0033 0.0040 2 2 39224351 SOS1 G T 199 0.90016 . MedGen:CN169374 not_specified Benign 0.9337 . intronic . 0.9369 0.9338 0.9394 -2.5 2 39224614 SOS1 A G 2 0.00359425 . MedGen:CN169374 not_specified Likely_benign 0.0390 . intronic . . 0.0326 0.0309 -2.5 2 39224615 SOS1 G GT 199 0.787939 . MedGen:CN169374 not_specified Benign 0.9319 . intronic . 0.9326 0.9327 0.9393 -2.5 2 39233500 SOS1 G A 199 0.905152 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006 Noonan_syndrome Benign . . intronic . . . 0.9383 -2.5 2 39239386 SOS1 T G 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 2.5 2 39240758 SOS1 C T 1 0.000399361 . . . . . . intronic . . . 0.0005 0 2 39241107 SOS1 G A 4 0.00319489 1.732 MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign 0.0122 nonsynonymous_SNV exonic T 0.0098 0.0116 0.0103 -0.5 2 39249896 SOS1 A G 1 0.000199681 2.765 . . . . nonsynonymous_SNV exonic D . . . 4.5 2 39250386 SOS1 A G 1 0.00778754 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign 0.0100 . intronic . 0.0077 0.0089 0.0091 0 2 39262348 SOS1 C G 1 0.00279553 . Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified|not_provided Benign 0.0164 . intronic . 0.0081 0.0117 0.0155 -2.5 2 39278394 SOS1 A G 1 0.000199681 5.873 MedGen:CN517202 not_provided Uncertain_significance 7.496e-05 nonsynonymous_SNV exonic D . 7.168e-05 . 6.5 2 39278497 SOS1 A G 1 0.000399361 . . . . . . intronic . . . 0.0007 0 2 39281730 SOS1 G C 199 0.891374 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign 0.9131 . intronic . 0.9209 0.9157 0.9187 -2.5 2 39281905 SOS1 G A 2 0.000998403 . Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified Benign 0.0035 synonymous_SNV exonic . 0.0045 0.0036 0.0033 0 2 39283784 SOS1 G C 4 0.00658946 . . . . . . intronic . . . 0.0188 -2.5 2 39285762 SOS1 G C 6 0.0515176 . . . . . . intronic . 0.0131 . 0.0115 -2.5 2 39347388 SOS1 GC G 12 0.0135783 . . . . . . intronic . . . 0.0226 -2.5 2 47389342 CALM2 A C 20 0.205072 . . . . . . intronic . . . 0.0752 -2.5 2 47389467 CALM2 G A 2 0.000599042 . MedGen:C0035828,OMIM:192500,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome_1|not_specified Benign/Likely_benign 0.0015 synonymous_SNV exonic . 0.0010 0.0013 0.0005 0 2 47389842 CALM2 T C 2 0.00559105 . . . . 0.0002 . intronic . 0.0003 0.0003 0.0004 0 2 105977761 FHL2 G A 40 0.111422 . MedGen:CN169374 not_specified Benign 0.1934 synonymous_SNV exonic . 0.1959 0.1935 0.1913 1.5 2 105977776 FHL2 G A 25 0.0517173 . MedGen:CN169374 not_specified Benign 0.1184 synonymous_SNV exonic . 0.1270 0.1223 0.1172 1.5 2 105977903 FHL2 G C 25 0.305511 . MedGen:CN169374 not_specified Benign 0.1310 . intronic . 0.1364 0.1332 0.1422 1.5 2 105979730 FHL2 C A 81 0.277356 . MedGen:CN169374 not_specified Benign 0.3779 . intronic . 0.3766 0.3798 0.3795 4.5 2 105979752 FHL2 G A 2 0.00459265 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign 0.0075 synonymous_SNV exonic . 0.0126 0.0098 0.0103 2.125 2 105979986 FHL2 C T 3 0.00219649 . . . . . . intronic . . . 0.0053 4 2 179391754 TTN A G 1 0.000399361 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0010 synonymous_SNV exonic . 0.0011 0.0013 0.0013 6.5 2 179392015 TTN T C 2 0.00599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0018 synonymous_SNV exonic . 0.0018 0.0016 0.0017 4.625 2 179392080 na A T 26 0.209065 . MedGen:CN169374 not_specified Benign 0.1488 . ncRNA_intronic . 0.1461 0.1444 0.1545 -2.5 2 179392277 TTN A G 1 0.00219649 1.541 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0016 nonsynonymous_SNV exonic T 0.0016 0.0009 0.0006 8.5 2 179393111 TTN A G 15 0.0920527 0.471 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0216 nonsynonymous_SNV exonic T 0.0207 0.0205 0.0187 4.75 2 179393691 TTN G A 1 0.00379393 3.210 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0094 nonsynonymous_SNV exonic T 0.0068 0.0083 0.0160 4.75 2 179393840 TTN C T 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0018 synonymous_SNV exonic . 0.0020 0.0017 0.0017 6.5 2 179393859 TTN A G 6 0.00459265 2.010 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0201 nonsynonymous_SNV exonic T 0.0178 0.0176 0.0172 6 2 179395067 TTN C G 15 0.0509185 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0878 synonymous_SNV exonic . 0.0874 0.0890 0.0873 1.5 2 179395554 TTN G A 5 0.00519169 2.704 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0165 nonsynonymous_SNV exonic T 0.0143 0.0163 0.0153 3.5 2 179395555 TTN C A 5 0.00519169 2.275 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0165 nonsynonymous_SNV exonic T 0.0143 0.0163 0.0153 3.5 2 179395560 TTN G A 15 0.0792732 3.557 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0215 nonsynonymous_SNV exonic T 0.0208 0.0205 0.0186 4.75 2 179395573 TTN C T 7 0.00658946 4.028 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0201 nonsynonymous_SNV exonic T 0.0175 0.0203 0.0186 4.125 2 179395760 TTN G A 15 0.091254 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0215 synonymous_SNV exonic . 0.0205 0.0206 0.0189 2.75 2 179395874 TTN C T 1 0.00319489 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0116 synonymous_SNV exonic . 0.0119 0.0113 0.01 4 2 179395958 TTN T C 57 0.508187 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2314 synonymous_SNV exonic . 0.2231 0.2261 0.2310 1.5 2 179396162 TTN C G 9 0.0229633 2.686 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0418 nonsynonymous_SNV exonic T 0.0436 0.0438 0.0486 4.75 2 179396354 TTN G A 26 0.231829 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1468 synonymous_SNV exonic . 0.1451 0.1444 0.1547 1.5 2 179396573 TTN T G 1 0.00379393 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0095 synonymous_SNV exonic . 0.0068 0.0083 0.0159 2.75 2 179396766 TTN C T 1 0.00359425 3.918 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0176 nonsynonymous_SNV exonic T 0.0145 0.0171 0.0221 4.75 2 179396782 TTN C G 2 0.00239617 2.504 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0072 nonsynonymous_SNV exonic T 0.0090 0.0084 0.0074 8.5 2 179397561 TTN C T 26 0.208666 4.497 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1455 nonsynonymous_SNV exonic T 0.1442 0.1441 0.1542 3.5 2 179398195 TTN C G 1 0.00219649 2.784 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0015 nonsynonymous_SNV exonic T 0.0006 0.0012 0.0022 8.5 2 179398509 TTN C A 15 0.0780751 3.098 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0212 nonsynonymous_SNV exonic T 0.0198 0.0202 0.0185 4.75 2 179398591 TTN T C 2 0.00119808 0.513 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0012 nonsynonymous_SNV exonic T 0.0012 0.0014 0.0019 8.5 2 179398747 TTN T C 2 0.00599042 1.457 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0019 0.0016 0.0017 8.5 2 179398823 TTN G A 26 0.232029 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1468 synonymous_SNV exonic . 0.1465 0.1447 0.1549 1.5 2 179398989 TTN C T 1 0.000199681 3.802 . . . 1.499e-05 nonsynonymous_SNV exonic T . 1.797e-05 0 8.5 2 179399071 TTN G A 2 0.000798722 3.933 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0016 nonsynonymous_SNV exonic T 0.0016 0.0014 0.0013 8.5 2 179399451 TTN C T 2 0.00599042 4.009 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0016 0.0017 8.5 2 179399537 TTN A C 1 0.000199681 0.640 MedGen:CN169374 not_specified Uncertain_significance 4.533e-05 nonsynonymous_SNV exonic D . 3.595e-05 6.663e-05 8.5 2 179399576 TTN C G 4 0.00459265 1.720 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0099 nonsynonymous_SNV exonic T 0.0104 0.0110 0.0099 6 2 179399677 TTN C T 2 0.00119808 2.339 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0055 nonsynonymous_SNV exonic T 0.0065 0.0062 0.0052 7.25 2 179399936 TTN G C 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0017 synonymous_SNV exonic . 0.0020 0.0016 0.0017 6.5 2 179400586 na A G 3 0.0233626 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2483 . ncRNA_intronic . 0.0050 0.0647 0.0254 -1.25 2 179400895 TTN C T 13 0.0654952 3.526 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0182 nonsynonymous_SNV exonic T 0.0174 0.0179 0.0169 4.75 2 179401074 TTN A C 2 0.000798722 2.164 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Uncertain_significance 0.0006 nonsynonymous_SNV exonic D 0.0006 0.0005 0.0003 6 2 179401311 na C CA 2 0.00359425 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0066 . ncRNA_intronic . 0.0072 0.0063 0.0094 2.5 2 179401740 TTN C T 3 0.0231629 3.001 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0266 nonsynonymous_SNV exonic T 0.0207 0.0235 0.0243 4.75 2 179401742 TTN C T 2 0.00479233 4.269 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0193 nonsynonymous_SNV exonic T 0.0210 0.0201 0.0199 4.75 2 179401777 TTN A T 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0017 synonymous_SNV exonic . 0.0018 0.0016 0.0017 6.5 2 179402301 TTN A T 1 0.000199681 . . . . 1.502e-05 synonymous_SNV exonic . . 8.971e-06 . 6.5 2 179402474 TTN G A 3 0.000599042 4.461 MedGen:CN169374 not_specified Uncertain_significance 4.506e-05 nonsynonymous_SNV exonic T . 2.688e-05 6.665e-05 6 2 179403425 TTN G A 1 0.000199681 3.515 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.978e-06 . 8.5 2 179403593 na G A 26 0.185104 . . . . 0.1466 . ncRNA_exonic . 0.1444 0.1443 0.1547 -2.5 2 179403750 TTN C T 10 0.076877 4.332 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0324 nonsynonymous_SNV exonic T 0.0287 0.0323 0.0284 3.5 2 179404197 TTN T C 3 0.00399361 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0177 synonymous_SNV exonic . 0.0166 0.0175 0.0163 4 2 179404293 TTN G A 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0017 synonymous_SNV exonic . 0.0020 0.0017 0.0017 6.5 2 179404402 TTN T C 6 0.00399361 1.106 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0067 nonsynonymous_SNV exonic T 0.0081 0.0071 0.0057 8.25 2 179404461 TTN C T 1 0.000199681 . . . . 1.499e-05 synonymous_SNV exonic . . 9.012e-06 . 6.5 2 179404498 TTN G C 1 0.000998403 2.862 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0042 nonsynonymous_SNV exonic T 0.0041 0.0044 0.0041 8.5 2 179404550 TTN G A 1 0.00139776 3.839 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0052 nonsynonymous_SNV exonic T 0.0041 0.0053 0.0108 6 2 179404628 TTN T A 13 0.0425319 2.893 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0177 nonsynonymous_SNV exonic T 0.0170 0.0177 0.0167 4.75 2 179404786 na A T 26 0.232628 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1471 . ncRNA_intronic . 0.1464 0.1443 0.1551 -2.5 2 179406003 na C A 56 0.504593 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2610 . ncRNA_intronic . 0.2102 0.2152 0.2295 -2.5 2 179406191 TTN C T 26 0.209265 5.326 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1472 nonsynonymous_SNV exonic T 0.1453 0.1439 0.1545 3.5 2 179407663 TTN G A 2 0.00119808 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign/Likely_benign 0.0011 synonymous_SNV exonic . 0.0012 0.0010 0.0008 5.25 2 179408713 TTN A G 11 0.115815 2.368 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0343 nonsynonymous_SNV exonic T 0.0322 0.0347 0.0300 3.5 2 179410282 TTN A G 3 0.00559105 2.442 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0158 nonsynonymous_SNV exonic T 0.0159 0.0174 0.0150 6 2 179410468 na A G 2 0.00599042 . . . . 0.0017 . ncRNA_intronic . 0.0020 0.0016 0.0017 0 2 179410666 TTN G A 2 0.00599042 2.870 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0019 0.0016 0.0017 8.5 2 179410704 TTN G A 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0117 synonymous_SNV exonic . 0.0108 0.0119 0.0105 4 2 179410815 TTN G A 2 0.00599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0017 synonymous_SNV exonic . 0.0019 0.0016 0.0017 4.625 2 179411011 TTN T C 3 0.0223642 1.667 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0251 nonsynonymous_SNV exonic T 0.0205 0.0233 0.0236 4.75 2 179411207 TTN A T 1 0.00179712 2.403 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0038 nonsynonymous_SNV exonic T 0.0035 0.0030 0.0033 8.5 2 179411212 TTN G A 1 0.000399361 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0015 synonymous_SNV exonic . 0.0015 0.0017 0.0017 6.5 2 179411665 na A G 41 0.327476 . . . . 0.1698 . ncRNA_intronic\x3bncRNA_intronic . 0.1683 0.1661 0.1749 -2.5 2 179412966 TTN G A 3 0.00898562 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0316 synonymous_SNV exonic . 0.0284 0.0312 0.0311 2.75 2 179413110 TTN G A 26 0.234225 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1470 synonymous_SNV exonic . 0.1460 0.1448 0.1548 1.5 2 179413452 TTN G A 7 0.0121805 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0280 synonymous_SNV exonic . 0.0315 0.0294 0.0241 4 2 179413657 TTN A G 1 0.000199681 2.176 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic T 0.0004 0.0005 0.0004 8.5 2 179414177 TTN G A 1 0.00199681 2.180 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0030 nonsynonymous_SNV exonic D 0.0023 0.0032 0.0036 8.5 2 179414318 TTN C T 10 0.15016 2.929 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0337 nonsynonymous_SNV exonic T 0.0308 0.0334 0.0294 3.5 2 179414633 na C A 41 0.323482 . . . . 0.1682 . ncRNA_intronic . 0.1680 0.1662 0.1751 -2.5 2 179414705 na A T 3 0.0223642 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0259 . ncRNA_intronic . 0.0196 0.0234 0.0235 -1.25 2 179414800 TTN C T 2 0.00599042 3.867 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0019 0.0016 0.0017 8.5 2 179415013 na G A 2 0.00599042 . MedGen:CN169374 not_specified Benign 0.0017 . ncRNA_intronic . 0.0015 0.0016 0.0017 0 2 179415833 TTN G A 1 0.000199681 . MedGen:CN169374 not_specified Conflicting_interpretations_of_pathogenicity 0.0003 synonymous_SNV exonic . . 0.0002 0.0001 6.5 2 179415942 TTN A C 1 0.000199681 3.814 . . . 1.5e-05 nonsynonymous_SNV exonic T . 8.996e-06 . 8.5 2 179416556 TTN A C 11 0.152356 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0352 synonymous_SNV exonic . 0.0328 0.0354 0.0311 1.5 2 179416801 TTN A C 2 0.00599042 1.496 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0019 0.0016 0.0017 8.5 2 179417091 TTN C T 2 0.0061901 3.757 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0020 0.0017 0.0021 8.5 2 179417415 TTN C T 1 0.000199681 1.435 . . . 1.499e-05 nonsynonymous_SNV exonic T . 1.794e-05 . 8.5 2 179417633 TTN C T 2 0.00599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0018 synonymous_SNV exonic . 0.0019 0.0016 0.0017 4.625 2 179418144 na C T 1 0.000199681 . . . . 0.0001 . ncRNA_intronic . 0.0001 0.0001 6.67e-05 2.5 2 179418306 TTN C T 1 0.000199681 3.208 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic T 0.0010 0.0010 0.0009 8.5 2 179419342 TTN G A 1 0.000199681 4.209 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.995e-06 . 8.5 2 179419792 TTN G A 3 0.00179712 3.106 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0039 nonsynonymous_SNV exonic T 0.0045 0.0044 0.0077 8.5 2 179421609 TTN C T 10 0.0842652 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0325 synonymous_SNV exonic . 0.0291 0.0324 0.0284 1.5 2 179421694 TTN A G 56 0.507188 -0.530 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2298 nonsynonymous_SNV exonic T 0.2206 0.2240 0.2291 3.5 2 179422073 TTN G A 1 0.000199681 2.379 . . . . nonsynonymous_SNV exonic T . . . 8.5 2 179422181 TTN C T 1 0.00259585 2.139 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0022 nonsynonymous_SNV exonic T 0.0010 0.0019 0.0041 8.5 2 179422286 na C A 1 0.000798722 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0027 . ncRNA_intronic . 0.0025 0.0030 0.0023 2.5 2 179422669 TTN G T 2 0.00219649 1.974 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0010 nonsynonymous_SNV exonic D 0.0001 0.0006 0.0007 8.5 2 179422834 TTN C A 1 0.000199681 1.943 . . . 1.501e-05 nonsynonymous_SNV exonic T . 9.011e-06 . 8.5 2 179423099 TTN A G 3 0.0223642 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0257 synonymous_SNV exonic . 0.0208 0.0233 0.0236 2.75 2 179423168 TTN T C 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 2 179424048 TTN T C 9 0.0161741 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0314 synonymous_SNV exonic . 0.0324 0.0312 0.0344 2.75 2 179424558 TTN C T 1 0.00279553 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0117 synonymous_SNV exonic . 0.0118 0.0113 0.0102 2.75 2 179424734 TTN C T 1 0.000199681 4.062 . . . 1.506e-05 nonsynonymous_SNV exonic T . 9.076e-06 . 8.5 2 179424834 TTN C T 1 0.000199681 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0001 synonymous_SNV exonic . 0.0001 0.0001 0.0001 9 2 179425470 TTN G A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 3.01e-05 synonymous_SNV exonic . . 3.599e-05 . 6.5 2 179425988 TTN G A 2 0.000399361 3.592 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0016 nonsynonymous_SNV exonic T 0.0007 0.0010 0.0010 8.5 2 179426219 TTN T C 1 0.000399361 0.707 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Uncertain_significance 0.0004 nonsynonymous_SNV exonic T 0.0002 0.0004 0.0004 8.5 2 179426596 TTN C T 2 0.000599042 2.154 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic T 0.0009 0.0010 0.0007 8.5 2 179426682 TTN T C 1 0.000199681 . . . . 1.513e-05 synonymous_SNV exonic . . 1.806e-05 . 6.5 2 179427186 TTN A G 57 0.508786 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2312 synonymous_SNV exonic . 0.2228 0.2252 0.2311 1.5 2 179427536 TTN T C 57 0.508387 0.936 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2335 nonsynonymous_SNV exonic T 0.2229 0.2261 0.2309 3.5 2 179428119 TTN C T 4 0.00778754 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0079 synonymous_SNV exonic . 0.0073 0.0077 0.0097 7.5 2 179428299 TTN G T 2 0.00579073 1.633 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0018 0.0016 0.0017 8.5 2 179429004 TTN G A 3 0.0221645 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0250 synonymous_SNV exonic . 0.0206 0.0232 0.0235 2.75 2 179429301 TTN A G 1 0.00299521 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0056 synonymous_SNV exonic . 0.0065 0.0058 0.0045 5.25 2 179429612 TTN A G 2 0.000599042 1.929 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0005 nonsynonymous_SNV exonic T 0.0007 0.0005 0.0005 8.5 2 179430060 TTN G T 3 0.0221645 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0250 synonymous_SNV exonic . 0.0206 0.0232 0.0235 2.75 2 179430105 TTN C T 1 0.000199681 . . . . 1.499e-05 synonymous_SNV exonic . . 8.992e-06 . 6.5 2 179430137 TTN T G 1 0.000399361 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign/Likely_benign 0.0001 synonymous_SNV exonic . . 0.0001 0.0002 7.75 2 179430997 TTN G A 41 0.342252 2.294 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1691 nonsynonymous_SNV exonic T 0.1669 0.1655 0.1745 3.5 2 179431076 TTN C G 8 0.00738818 2.573 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0190 nonsynonymous_SNV exonic D 0.0200 0.0198 0.0245 4.125 2 179431594 TTN A G 3 0.0223642 1.803 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0252 nonsynonymous_SNV exonic T 0.0207 0.0234 0.0236 4.75 2 179431797 TTN A T 15 0.0926518 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0222 synonymous_SNV exonic . 0.0208 0.0209 0.0197 2.75 2 179432004 TTN A G 2 0.00119808 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0004 synonymous_SNV exonic . 0.0009 0.0005 0.0001 6.5 2 179432185 TTN A G 52 0.129992 3.368 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3013 nonsynonymous_SNV exonic T 0.3030 0.3052 0.3241 3.5 2 179433221 TTN T C 3 0.0223642 0.167 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0251 nonsynonymous_SNV exonic T 0.0209 0.0234 0.0236 4.75 2 179433580 TTN T C 3 0.0223642 0.998 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0251 nonsynonymous_SNV exonic T 0.0206 0.0233 0.0235 4.75 2 179433654 TTN C T 2 0.000399361 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0010 synonymous_SNV exonic . 0.0011 0.0010 0.0006 5.25 2 179434139 TTN A G 3 0.0223642 1.818 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0251 nonsynonymous_SNV exonic T 0.0207 0.0234 0.0235 4.75 2 179434303 TTN A G 1 0.000199681 2.873 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Uncertain_significance 3.115e-05 nonsynonymous_SNV exonic T 0.0001 6.347e-05 . 8.5 2 179434516 TTN C T 15 0.0792732 2.413 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0222 nonsynonymous_SNV exonic T 0.0202 0.0208 0.0193 4.75 2 179435337 TTN T G 11 0.143171 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0351 synonymous_SNV exonic . 0.0327 0.0353 0.0307 1.5 2 179435418 TTN T C 1 0.00599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0054 synonymous_SNV exonic . 0.0059 0.0057 0.0059 5.25 2 179436020 TTN G A 26 0.208067 3.394 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1448 nonsynonymous_SNV exonic T 0.1442 0.1436 0.1528 3.5 2 179436257 TTN T C 1 0.000399361 0.906 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Uncertain_significance 0.0004 nonsynonymous_SNV exonic T 0.0002 0.0004 0.0004 8.5 2 179436303 TTN G C 1 0.000199681 . . . . 7.569e-05 synonymous_SNV exonic . . 2.726e-05 . 6.5 2 179437034 TTN C G 1 0.00159744 2.191 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0039 nonsynonymous_SNV exonic T 0.0024 0.0037 0.0059 8.5 2 179438235 TTN T C 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0017 synonymous_SNV exonic . 0.0019 0.0017 0.0017 6.5 2 179438866 TTN C T 9 0.0978435 4.024 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0326 nonsynonymous_SNV exonic T 0.0292 0.0326 0.0286 3.5 2 179439511 TTN C T 1 0.000199681 4.171 MedGen:CN169374 not_specified Uncertain_significance 0 nonsynonymous_SNV exonic T . 0 6.668e-05 8.5 2 179440029 TTN G A 50 0.146565 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2979 synonymous_SNV exonic . 0.2975 0.3020 0.3216 1.5 2 179440182 TTN A G 1 0.000599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0044 synonymous_SNV exonic . 0.0051 0.0043 0.0070 5.25 2 179441119 TTN G A 1 0.00778754 2.369 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 4.695e-05 nonsynonymous_SNV exonic T 0.0001 5.205e-05 6.665e-05 7.25 2 179441295 TTN T C 1 0.00299521 1.439 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0095 nonsynonymous_SNV exonic D 0.0092 0.0085 0.0074 6.625 2 179441738 TTN A G 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 2 179441932 TTN G A 1 0.000998403 2.114 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0048 nonsynonymous_SNV exonic D 0.0052 0.0055 0.0049 8.5 2 179442292 na TA T 26 0.0678914 . . . . 0.1651 . ncRNA_intronic\x3bncRNA_intronic . 0.1192 0.1623 0.1109 -2.5 2 179442784 TTN C G 1 0.000798722 2.997 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0027 nonsynonymous_SNV exonic D 0.0031 0.0026 0.002 8.5 2 179443540 TTN A G 11 0.135982 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0351 synonymous_SNV exonic . 0.0327 0.0353 0.0309 1.5 2 179444137 na A G 42 0.347444 . MedGen:CN169374 not_specified Benign 0.1730 . ncRNA_intronic . 0.1688 0.1675 0.1758 -2.5 2 179444166 na G A 1 0.000399361 . . . . 7.976e-05 . ncRNA_intronic . . 6.101e-05 0 2.5 2 179444289 TTN A G 5 0.0283546 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0269 synonymous_SNV exonic . 0.0225 0.0251 0.0254 2.75 2 179444626 na A C 3 0.0223642 . . . . 0.0252 . ncRNA_intronic\x3bncRNA_intronic . 0.0207 0.0234 0.0237 -2.5 2 179444768 TTN C G 214 0.994609 -0.011 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 nonsynonymous_SNV exonic T 0.9999 0.9997 0.9999 3.5 2 179444939 TTN C T 48 0.351238 1.514 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1776 nonsynonymous_SNV exonic T 0.1769 0.1739 0.1805 3.5 2 179446381 TTN C T 8 0.00579073 3.234 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0225 nonsynonymous_SNV exonic T 0.0219 0.0223 0.0175 6 2 179447848 TTN T C 58 0.513778 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2377 synonymous_SNV exonic . 0.2244 0.2271 0.2316 1.5 2 179448315 na A C 5 0.0391374 . MedGen:CN169374 not_specified Benign 0.0375 . ncRNA_exonic . 0.0227 0.0248 0.0255 -2.5 2 179448967 na A AAAC 5 0.0920527 . . . . 0.0270 . ncRNA_intronic . 0.0237 0.0260 0.0244 -2.5 2 179449131 TTN G A 7 0.0107827 3.355 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0374 nonsynonymous_SNV exonic T 0.0426 0.0398 0.0350 4.75 2 179449186 TTN G A 2 0.0129792 4.103 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0036 nonsynonymous_SNV exonic T 0.0028 0.0026 0.0016 4.75 2 179449579 TTN C T 2 0.00599042 2.898 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic D 0.0019 0.0016 0.0017 8.5 2 179451420 TTN G A 56 0.507588 3.015 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2301 nonsynonymous_SNV exonic T 0.2197 0.2241 0.2281 3.5 2 179451906 TTN G A 2 0.0131789 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0060 synonymous_SNV exonic . 0.0053 0.0058 0.0059 2.75 2 179453429 TTN G A 4 0.00579073 -0.383 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0143 nonsynonymous_SNV exonic T 0.0163 0.0139 0.0127 6 2 179454394 TTN A G 57 0.51238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2326 synonymous_SNV exonic . 0.2249 0.2270 0.2314 1.5 2 179454530 TTN C T 1 0.000998403 3.623 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0042 nonsynonymous_SNV exonic T 0.0043 0.0043 0.0039 8.5 2 179455207 TTN T C 57 0.51238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2330 synonymous_SNV exonic . 0.2242 0.2269 0.2315 1.5 2 179455352 TTN C T 1 0.00119808 3.890 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0062 nonsynonymous_SNV exonic T 0.0043 0.0063 0.0042 7.25 2 179455595 TTN T C 1 0.000199681 0.486 . . . 1.502e-05 nonsynonymous_SNV exonic T . 9.029e-06 . 8.5 2 179456310 na C G 1 0.000199681 . . . . . . ncRNA_intronic . . . . 2.5 2 179457147 TTN G A 27 0.213059 2.159 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1461 nonsynonymous_SNV exonic T 0.1473 0.1444 0.1539 3.5 2 179457446 na A G 20 0.10004 . . . . . . ncRNA_intronic\x3bncRNA_intronic . . . 0.0259 -2.5 2 179457457 na G T 1 0.000199681 . . . . 1.503e-05 . ncRNA_intronic\x3bncRNA_intronic . . 9.062e-06 . 2.5 2 179457928 TTN G T 1 0.000199681 . . . . 1.501e-05 synonymous_SNV exonic . . 9.013e-06 . 6.5 2 179458591 TTN C T 27 0.21246 4.706 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1465 nonsynonymous_SNV exonic T 0.1473 0.1453 0.1540 3.5 2 179460433 TTN G A 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0023 synonymous_SNV exonic . 0.0018 0.0016 0.0017 6.5 2 179460557 na A T 5 0.0285543 . . . . 0.0354 . ncRNA_intronic . 0.0208 0.0239 0.0252 -2.5 2 179462494 TTN A G 50 0.126997 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3002 synonymous_SNV exonic . 0.3001 0.3054 0.3235 1.5 2 179462580 na T C 1 0.000199681 . . . . 1.504e-05 . ncRNA_intronic\x3bncRNA_intronic . . 9.025e-06 6.668e-05 2.5 2 179462796 na A G 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 1.502e-05 . ncRNA_intronic . . 1.817e-05 6.663e-05 2.5 2 179463422 na A G 1 0.00219649 . . . . 0.0094 . ncRNA_intronic\x3bncRNA_intronic . 0.0103 0.0097 0.0079 -2.5 2 179463446 na T TA 9 0.0265575 . . . . 0.0318 . ncRNA_intronic\x3bncRNA_intronic . 0.0295 0.0304 0.0294 -2.5 2 179463823 na T A 5 0.00658946 . . . . 0.0079 . ncRNA_intronic\x3bncRNA_intronic . 0.0065 0.0086 0.0063 1 2 179463991 TTN C T 1 0.00359425 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0122 synonymous_SNV exonic . 0.0110 0.0122 0.0107 2.75 2 179464245 na A G 5 0.0285543 . . . . 0.0272 . ncRNA_intronic . 0.0225 0.0258 0.0253 -2.5 2 179464527 TTN T C 57 0.51278 2.157 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2340 nonsynonymous_SNV exonic T 0.2261 0.2276 0.2319 3.5 2 179464637 na A T 1 0.00219649 . . . . . . ncRNA_intronic . . . 0.0023 0 2 179465706 TTN A T 1 0.000199681 1.091 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic T 0.0007 0.0006 0.0003 8.5 2 179466859 TTN A G 1 0.000599042 2.502 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Uncertain_significance 7.541e-05 nonsynonymous_SNV exonic T . 8.27e-05 0.0001 6 2 179467070 TTN A G 1 0.000199681 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign 7.516e-05 synonymous_SNV exonic . . 8.118e-05 . 7.75 2 179467226 TTN G C 3 0.00159744 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0014 synonymous_SNV exonic . 0.0007 0.0010 0.0004 5.25 2 179468704 TTN A G 2 0.000798722 1.896 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic T 0.0008 0.0011 0.0015 8.5 2 179469386 na A G 12 0.119209 . . . . 0.0410 . ncRNA_intronic . 0.0358 0.0381 0.0367 -2.5 2 179470047 na C A 7 0.0832668 . . . . 0.0147 . ncRNA_exonic . 0.0133 0.0126 0.0121 -2.5 2 179472223 TTN A G 3 0.00459265 2.046 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0166 nonsynonymous_SNV exonic D 0.0143 0.0139 0.0149 4.75 2 179472292 TTN T A 3 0.0295527 1.552 . . . 0.0254 nonsynonymous_SNV exonic T 0.0204 0.0234 0.0228 3.5 2 179472319 TTN C T 1 0.00119808 3.630 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0028 nonsynonymous_SNV exonic T 0.0030 0.0030 0.0018 8.5 2 179472693 TTN A G 3 0.0305511 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0256 synonymous_SNV exonic . 0.0205 0.0235 0.0229 2.75 2 179472825 na T C 14 0.0107827 . MedGen:CN169374 not_specified Benign 0.0247 . ncRNA_intronic . 0.0226 0.0225 0.0215 -2.5 2 179473238 na C A 1 0.000199681 . . . . 0.0005 . ncRNA_intronic . . 0.0004 0.0003 0 2 179473705 na G A 1 0.000199681 . . . . . . ncRNA_intronic . . . . 2.5 2 179474075 TTN C T 1 0.000199681 3.675 . . . 1.511e-05 nonsynonymous_SNV exonic T . 1.806e-05 . 8.5 2 179474466 TTN C T 3 0.0299521 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0255 synonymous_SNV exonic . 0.0204 0.0232 0.0229 2.75 2 179474668 TTN G A 7 0.0726837 3.431 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0140 nonsynonymous_SNV exonic T 0.0131 0.0126 0.0117 4.75 2 179474787 na T C 2 0.00599042 . . . . 0.0018 . ncRNA_intronic . 0.0019 0.0017 0.0017 0 2 179477267 TTN T G 3 0.00638978 1.693 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0235 nonsynonymous_SNV exonic T 0.0198 0.0211 0.0208 4.75 2 179477332 na ATT AT 55 . . . . . . . ncRNA_intronic . . . . 7 2 179477435 na C T 1 0.000199681 . . . . . . ncRNA_intronic . . . . 2.5 2 179477476 na T G 5 0.0361422 . . . . 0.0306 . ncRNA_intronic . 0.0219 0.0249 0.0249 -2.5 2 179477529 TTN C G 2 0.00599042 2.501 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0017 8.5 2 179477717 TTN A G 7 0.0736821 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0140 synonymous_SNV exonic . 0.0130 0.0126 0.0117 2.75 2 179477802 na G A 1 0.000599042 . . . . 4.517e-05 . ncRNA_intronic . . 2.71e-05 . 0 2 179478639 TTN T A 2 0.00599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0018 synonymous_SNV exonic . 0.0019 0.0017 0.0017 4.625 2 179478829 TTN C T 1 0.000199681 3.307 . . . . nonsynonymous_SNV exonic D . . . 8.5 2 179479118 na A AT 5 0.0365415 . . . . 0.0271 . ncRNA_exonic . 0.0227 0.0250 0.0248 -2.5 2 179479245 TTN C T 7 0.072484 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0140 synonymous_SNV exonic . 0.0127 0.0126 0.0117 2.75 2 179479741 na G A 4 0.0938498 . . . . 0.0293 . ncRNA_intronic . 0.0209 0.0237 0.0224 -2.5 2 179482089 TTN C T 1 0.00299521 4.000 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0146 nonsynonymous_SNV exonic T 0.0088 0.0075 0.0069 6 2 179482280 na G A 1 0.000199681 . . . . 3.423e-05 . ncRNA_intronic . . 1.431e-05 . 2.5 2 179482309 na CAATT C 7 0.081869 . . . . . . ncRNA_intronic . . . 0.0120 -2.5 2 179482533 TTN G T 2 0.00599042 1.986 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0016 0.0017 8.5 2 179482852 na G A 1 0.000199681 . . . . 1.512e-05 . ncRNA_intronic\x3bncRNA_intronic . . 1.833e-05 . 2.5 2 179482937 TTN C T 1 0.000599042 2.837 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0026 nonsynonymous_SNV exonic T 0.0023 0.0030 0.0027 8.5 2 179482994 TTN G A 4 0.00139776 2.977 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0035 nonsynonymous_SNV exonic D 0.0029 0.0037 0.0037 9.5 2 179483040 TTN C T 1 0.000199681 . . . . 1.501e-05 synonymous_SNV exonic . . 9.035e-06 . 6.5 2 179484892 na T A 5 0.0363419 . . . . . . ncRNA_exonic\x3bncRNA_exonic . . . 0.0247 -2.5 2 179485521 TTN A T 1 0.000199681 -1.228 . . . 1.5e-05 nonsynonymous_SNV exonic T . 9.049e-06 . 8.5 2 179485599 TTN A G 5 0.0363419 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0271 synonymous_SNV exonic . 0.0224 0.0249 0.0248 2.75 2 179485707 TTN G A 1 0.000199681 . . . . 3.016e-05 synonymous_SNV exonic . . 3.641e-05 . 6.5 2 179486037 TTN C A 1 0.00219649 3.020 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0065 nonsynonymous_SNV exonic T 0.0086 0.0079 0.0070 8.5 2 179486376 TTN C T 2 0.00339457 4.195 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0017 7.25 2 179486478 MIR548N T C 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0122 . ncRNA_intronic . 0.0109 0.0122 0.0107 0 2 179487314 MIR548N C CT 5 0.0391374 . . . . . . ncRNA_intronic . . . 0.0249 -2.5 2 179495795 TTN C T 1 0.000199681 . . . . 1.503e-05 synonymous_SNV exonic . . 9.015e-06 . 6.5 2 179497025 TTN A G 2 0.0395367 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0062 synonymous_SNV exonic . 0.0036 0.0034 0.0043 2.75 2 179497133 TTN C T 3 0.00698882 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0346 synonymous_SNV exonic . 0.0290 0.0300 0.0430 2.75 2 179498022 TTN G A 1 0.00119808 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0002 synonymous_SNV exonic . 0.0001 0.0002 6.67e-05 5.25 2 179498042 TTN T C 25 0.0509185 2.465 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1043 nonsynonymous_SNV exonic T 0.1098 0.1075 0.1110 3.5 2 179498303 TTN T C 4 0.109425 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0247 synonymous_SNV exonic . 0.0211 0.0241 0.0229 1.5 2 179499038 MIR548N A G 4 0.109625 . . . . . . ncRNA_intronic . . . 0.0228 -2.5 2 179499530 TTN T C 3 0.0305511 1.512 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0253 nonsynonymous_SNV exonic T 0.0205 0.0232 0.0229 4.75 2 179500629 MIR548N C T 1 0.000199681 . . . . . . ncRNA_intronic . . . . 2.5 2 179500777 TTN C T 1 0.000399361 2.678 Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Myopathy|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0005 nonsynonymous_SNV exonic T 0.0004 0.0007 0.0005 8.5 2 179500790 TTN A G 5 0.0365415 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0270 synonymous_SNV exonic . 0.0220 0.0249 0.0247 2.75 2 179501351 TTN G A 2 0.00119808 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0050 synonymous_SNV exonic . 0.0043 0.0044 0.0043 6.5 2 179505896 MIR548N A G 5 0.0365415 . . . . . . ncRNA_intronic . . . 0.0247 -2.5 2 179506911 MIR548N G A 2 0.00119808 . . . . 0.0016 . ncRNA_intronic . . 0.0010 0.0008 0 2 179509245 MIR548N T C 3 0.00159744 . . . . 0.0019 . ncRNA_intronic . 0.0007 0.0009 0.0004 0 2 179510833 MIR548N A T 4 0.10603 . . . . . . ncRNA_intronic . . . 0.0050 -2.5 2 179513923 MIR548N A T 4 0.0934505 . . . . . . ncRNA_intronic . . . 0.0227 -2.5 2 179513966 MIR548N G A 1 0.000199681 . . . . 0.0002 . ncRNA_intronic . . 7.869e-05 6.691e-05 2.5 2 179514208 MIR548N G A 5 0.0327476 . . . . . . ncRNA_intronic . . . 0.0071 -2.5 2 179514420 MIR548N G A 3 0.0305511 . . . . . . ncRNA_intronic . . . 0.0229 -2.5 2 179514433 MIR548N T C 51 0.32488 . . . . . . ncRNA_intronic . . . 0.2015 -2.5 2 179514479 MIR548N C T 2 0.00119808 . . . . . . ncRNA_intronic\x3bncRNA_intronic . . . 0.0049 0 2 179514508 MIR548N A C 3 0.0305511 . . . . 0.0253 . ncRNA_intronic . 0.0195 0.0231 0.0229 -2.5 2 179514941 TTN TTTTCCTCTTCAGGAGCAA T 5 0.033147 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0103 nonframeshift_deletion exonic . 0.0049 0.0065 0.0078 2.75 2 179515437 MIR548N T G 3 0.0307508 . . . . 0.0321 . ncRNA_intronic . 0.0198 0.0220 0.0230 -2.5 2 179515472 MIR548N G A 2 0.00159744 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0169 . ncRNA_intronic . 0.0091 0.0086 0.0096 -1.875 2 179515475 MIR548N T C 1 0.000199681 . . . . 6.89e-05 . ncRNA_intronic . . 1.977e-05 . 2.5 2 179515483 TTN G C 2 0.0393371 0.743 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0093 nonsynonymous_SNV exonic T 0.0034 0.0034 0.0043 4.75 2 179516580 MIR548N G C 3 0.00838658 . . . . 0.0298 . ncRNA_intronic . 0.0231 0.0211 0.0218 -2.5 2 179516690 TTN G A 1 0.000399361 . MedGen:CN169374 not_specified Likely_benign 3.651e-05 synonymous_SNV exonic . . 2.795e-05 . 6.5 2 179517019 TTN A T 1 0.00279553 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0119 synonymous_SNV exonic . 0.0110 0.0121 0.0107 4 2 179517105 MIR548N G A 1 0.000199681 . . . . 1.502e-05 . ncRNA_intronic\x3bncRNA_intronic . . 8.989e-06 . 2.5 2 179517605 TTN G A 1 0.00638978 1.597 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0055 nonsynonymous_SNV exonic . 0.0068 0.0057 0.0059 6.625 2 179517632 TTN G A 2 0.00259585 1.228 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Conflicting_interpretations_of_pathogenicity 0.0010 nonsynonymous_SNV exonic . 0.0003 0.0006 0.0007 8.5 2 179517654 TTN T C 5 0.0365415 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0273 synonymous_SNV exonic . . 0.0250 0.0247 2.125 2 179517725 MIR548N T G 1 0.000199681 . . . . 3.073e-05 . ncRNA_intronic\x3bncRNA_intronic . . 1.844e-05 . 2.5 2 179518003 TTN A G 10 0.117013 -0.768 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0527 nonsynonymous_SNV exonic . . 0.0493 0.0473 4.125 2 179518170 TTN T G 1 0.000199681 0.677 . . . . nonsynonymous_SNV exonic . . . . 8.5 2 179518273 MIR548N G A 1 0.00159744 . . . . 0.0068 . ncRNA_intronic\x3bncRNA_intronic . . 0.0056 0.0114 -2.5 2 179518854 MIR548N G A 2 0.00599042 . . . . 0.0018 . ncRNA_intronic\x3bncRNA_intronic . . 0.0016 0.0017 0 2 179518911 MIR548N TAGC T 42 0.109425 . . . . 0.1924 . ncRNA_intronic\x3bncRNA_intronic . . 0.1952 0.1997 -2.5 2 179519086 MIR548N A T 1 0.0413339 . . . . . . ncRNA_intronic\x3bncRNA_intronic . . . 0.0047 -2.5 2 179519330 MIR548N C A 11 0.103035 . . . . . . ncRNA_intronic . . . 0.0168 -2.5 2 179519351 MIR548N T C 11 0.102436 . . . . . . ncRNA_intronic . . . 0.0144 -2.5 2 179522337 MIR548N G A 5 0.136581 . . . . 0.0010 . ncRNA_intronic\x3bncRNA_intronic . . 0.0048 0.0086 -2.5 2 179522377 MIR548N T C 1 0.000199681 . . . . 0 . ncRNA_intronic\x3bncRNA_intronic . . 0 . 2.5 2 179522513 MIR548N T C 1 0.000199681 . . . . 0 . ncRNA_intronic\x3bncRNA_intronic . . 0 . 2.5 2 179522795 MIR548N A G 1 0.000199681 . . . . 3.285e-05 . ncRNA_intronic . . 1.927e-05 . 2.5 2 179523368 MIR548N G A 51 0.0680911 . . . . . . ncRNA_intronic\x3bncRNA_intronic . . . 0.1863 -2.5 2 179527095 TTN G A 4 0.0091853 0.568 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0267 nonsynonymous_SNV exonic . . 0.0262 0.0182 4.125 2 179527475 TTN C T 5 0.0329473 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign 0.0222 synonymous_SNV exonic . . 0.0105 0.0062 2.75 2 179528068 TTN C A 2 0.057508 1.906 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0062 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T 0.0045 0.0042 0.0047 2.125 2 179528335 MIR548N T C 4 0.0698882 . . . . 0.0245 . ncRNA_intronic\x3bncRNA_intronic . 0.0221 0.0237 0.0226 -2.5 2 179528378 TTN C T 14 0.259185 2.900 MedGen:CN169374 not_specified Benign 0.0632 nonsynonymous_SNV exonic T 0.0560 0.0595 0.0572 3.5 2 179529273 MIR548N A G 5 0.0367412 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0273 . ncRNA_intronic . 0.0218 0.0253 0.0247 -1.875 2 179529497 MIR548N T G 5 0.0369409 . . . . 0.0277 . ncRNA_intronic\x3bncRNA_intronic . 0.0216 0.0252 0.0247 -2.5 2 179529584 TTN A T 1 0.000199681 2.012 . . . 1.797e-05 nonsynonymous_SNV exonic T . 9.829e-06 . 8.5 2 179531693 MIR548N A G 3 0.0309505 . . . . . . ncRNA_intronic . . . 0.0231 -2.5 2 179534224 MIR548N C T 1 0.000399361 . . . . 8.9e-05 . ncRNA_intronic\x3bncRNA_intronic . . 0.0002 0.0001 2.5 2 179534225 MIR548N G A 3 0.00838658 . . . . . . ncRNA_intronic\x3bncRNA_intronic . . . 0.0220 -2.5 2 179535068 MIR548N T C 1 0.000199681 . . . . 0.0001 . ncRNA_intronic . . 3.186e-05 . 2.5 2 179537200 TTN C T 1 0.000998403 2.829 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0060 nonsynonymous_SNV exonic T 0.0036 0.0059 0.0041 8.5 2 179538492 MIR548N C T 1 0.000798722 . . . . . . ncRNA_intronic . 0.0016 . 0.0054 0 2 179539803 TTN G A 1 0.000199681 . . . . 1.544e-05 synonymous_SNV exonic . . 1.022e-05 . 6.5 2 179539812 TTN T G 2 0.00599042 1.654 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0018 0.0017 0.0017 8.5 2 179539903 MIR548N C A 54 0.471246 . . . . . . ncRNA_intronic . 0.2126 . 0.2194 0.5 2 179540461 TTN G T 3 0.00159744 2.531 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0222 nonsynonymous_SNV exonic . . 0.0058 0.0036 4.125 2 179541899 TTN C G 148 0.773363 . . . . 0.7155 . intronic . . 0.7180 0.7498 1.5 2 179542046 TTN A G 1 0.000199681 . . . . 0.0012 . intronic . . 0.0002 . 4 2 179542068 TTN T C 4 0.0666933 . . . . . . intronic . . . 0.0004 1.5 2 179542674 TTN C T 1 0.00419329 . . . . 0.0094 . intronic . 0.0094 0.0102 0.0101 1.5 2 179543217 TTN C T 40 0.238419 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2297 synonymous_SNV exonic . 0.1604 0.1558 0.1636 4.5 2 179543382 TTN T G 1 0.000199681 . . . . . . intronic . . . 0.0003 6.5 2 179543399 TTN C T 2 0.00599042 . . . . . . intronic . . . 0.0017 4 2 179544427 TTN A G 2 0.00599042 . MedGen:CN169374 not_specified Benign 0.0020 . intronic . 0.0017 0.0017 0.0017 4 2 179544701 TTN A G 1 0.000199681 0.576 . . . 1.502e-05 nonsynonymous_SNV exonic T . 8.992e-06 . 8.5 2 179544983 TTN C G 1 0.00159744 1.435 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Likely_benign 0.0022 nonsynonymous_SNV exonic T 0.0033 0.0025 0.0019 7.25 2 179545107 TTN C T 1 0.000399361 . . . . 0.0001 . intronic . 0.0002 0.0002 0.0003 6.5 2 179545177 TTN C T 1 0.00199681 . . . . . . intronic . . . 0.0012 4 2 179545859 TTN C T 49 0.125998 2.302 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3005 nonsynonymous_SNV exonic T 0.3031 0.3030 0.3243 3.5 2 179547455 TTN T C 3 0.00459265 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0081 synonymous_SNV exonic . 0.0086 0.0090 0.0085 5.25 2 179547465 TTN C T 2 0.00139776 1.213 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0010 nonsynonymous_SNV exonic T 0.0011 0.0010 0.0012 8.5 2 179547860 TTN A G 45 0.284944 . . . . . . intronic . . . 0.1732 1.5 2 179548633 TTN C CT 2 0.00599042 . . . . . . intronic . . . 0.0018 4 2 179548704 TTN T C 1 0.000798722 . . . . 0.0031 . intronic . 0.0022 0.0031 0.0030 4 2 179549048 TTN C T 1 0.00279553 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0124 . intronic . 0.0111 0.0121 0.0107 2.125 2 179549131 TTN C T 6 0.00539137 2.951 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0176 nonsynonymous_SNV exonic T 0.0180 0.0168 0.0168 4.75 2 179549407 TTN G A 4 0.00179712 2.586 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0077 nonsynonymous_SNV exonic T 0.0059 0.0066 0.0061 9.5 2 179549474 TTN G A 1 0.000199681 2.695 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0004 nonsynonymous_SNV exonic T 0.0001 0.0004 0.0004 11 2 179549500 TTN A G 2 0.00599042 . . . . 0.0018 . intronic . 0.0020 0.0017 0.0018 4 2 179549608 TTN G GA 2 0.00599042 . . . . 0.0023 . intronic . 0.0022 0.0016 0.0017 4 2 179549707 TTN G A 1 0.000798722 2.765 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Likely_benign 0.0042 nonsynonymous_SNV exonic T 0.0021 0.0028 0.0022 7.25 2 179550069 TTN T C 5 0.0329473 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0102 . intronic . 0.0089 0.0093 0.0072 1.5 2 179550302 TTN C T 1 0.000199681 2.215 . . . 0 nonsynonymous_SNV exonic T . 0 . 8.5 2 179550393 TTN T G 2 0.00599042 . . . . . . intronic . . . 0.0017 4 2 179553542 TTN G T 6 0.00539137 . . . . 0.0182 . intronic . 0.0187 0.0174 0.0171 1.5 2 179553566 TTN A G 5 0.00658946 . . . . . . intronic . . . 0.0062 5 2 179553730 TTN ATTTTTTTT A 7 0.110423 . . . . 0.0008 . intronic . . . . 1.5 2 179553781 TTN T C 1 0.00139776 . . . . . synonymous_SNV exonic . . . . 4 2 179553787 TTN A G 2 0.00119808 . . . . . synonymous_SNV exonic . . . . 4 2 179553790 TTN A G 2 0.00119808 . . . . . synonymous_SNV exonic . . . . 4 2 179553793 TTN A G 2 0.00119808 . . . . . synonymous_SNV exonic . . . . 4 2 179553917 TTN G A 14 0.261581 . . . . . . intronic . 0.0550 . 0.0570 1.5 2 179554305 TTN C T 63 0.413339 4.097 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3697 nonsynonymous_SNV exonic T 0.3605 0.3561 0.3821 3.5 2 179554549 TTN G C 1 0.000599042 1.700 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Conflicting_interpretations_of_pathogenicity 0.0005 nonsynonymous_SNV exonic T 0.0001 0.0004 0.0003 8.5 2 179558282 TTN T A 50 0.322284 . . . . . . intronic . . . 0.1965 4.5 2 179558366 TTN T C 55 0.477835 1.533 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2457 nonsynonymous_SNV exonic T 0.2286 0.2271 0.2289 3.5 2 179563622 TTN C T 2 0.00339457 . . . . . synonymous_SNV exonic . . 0 . 4 2 179563702 TTN C T 8 0.00938498 . . . . . . intronic . . . 0.0253 1.5 2 179566398 TTN C G 2 0.00599042 . . . . . . intronic . . . 0.0018 4 2 179566802 TTN T TA 6 0.130192 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign 0.0432 . intronic . 0.0286 0.0395 0.0274 1.5 2 179567230 TTN A G 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0017 synonymous_SNV exonic . 0.0019 0.0016 0.0017 6.5 2 179567340 TTN G A 1 0.00119808 2.770 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Primary_dilated_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0053 nonsynonymous_SNV exonic T 0.0041 0.0054 0.0109 8.5 2 179567431 TTN A C 1 0.00539137 . . . . 0.0031 . intronic . 0.0035 0.0030 0.0019 4 2 179569147 TTN T C 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0027 . intronic . 0.0032 0.0026 0.0025 4 2 179569387 TTN T A 10 0.0105831 2.427 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0259 nonsynonymous_SNV exonic T 0.0266 0.0255 0.0296 4.75 2 179569400 TTN C T 5 0.0842652 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0295 synonymous_SNV exonic . 0.0243 0.0255 0.0258 1.5 2 179569436 TTN A G 5 0.096845 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0304 synonymous_SNV exonic . 0.0248 0.0259 0.0262 1.5 2 179569583 TTN T A 2 0.00599042 . . . . 0.0017 . intronic . 0.0018 0.0017 0.0017 4 2 179569705 TTN A G 2 0.00599042 . MedGen:CN169374 not_specified Benign 0.0017 . intronic . 0.0018 0.0016 0.0017 4 2 179570114 TTN A T 5 0.0866613 . . . . 0.0342 . intronic . 0.0227 0.0253 0.0260 1.5 2 179570122 TTN C A 3 0.0513179 . . . . 0.0278 . intronic . 0.0195 0.0231 0.0236 1.5 2 179571448 TTN A G 5 0.127396 2.835 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0280 nonsynonymous_SNV exonic T 0.0261 0.0270 0.0260 3.5 2 179571697 TTN C T 5 0.0942492 . MedGen:CN169374 not_specified Benign 0.0370 . intronic . 0.0239 0.0261 0.025 1.5 2 179572222 TTN G T 2 0.00898562 . . . . 1.742e-05 . intronic . . 5.78e-05 0 4 2 179572445 TTN C T 1 0.000199681 3.339 MedGen:CN169374 not_specified Uncertain_significance 7.499e-05 nonsynonymous_SNV exonic T . 8.961e-05 0.0001 8.5 2 179574384 TTN C T 5 0.0752796 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0289 synonymous_SNV exonic . 0.0237 0.0259 0.0255 2.75 2 179575295 TTN C T 1 0.000199681 . . . . . . intronic . . . 0.0011 4 2 179575511 TTN C T 11 0.0273562 3.915 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0518 nonsynonymous_SNV exonic T 0.0570 0.0552 0.0558 4.75 2 179575949 TTN G T 28 0.0740815 . MedGen:CN230736 Cardiovascular_phenotype Likely_benign 0.0002 synonymous_SNV exonic . . 0.0002 . 1.5 2 179576855 TTN A G 1 0.000998403 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0008 synonymous_SNV exonic . 0.0009 0.0009 0.0005 6.5 2 179577736 TTN G A 2 0.00599042 . . . . 0.0018 . intronic . 0.0020 0.0016 0.0017 4 2 179577998 TTN T C 1 0.00219649 1.184 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0005 0.0011 0.0022 8.5 2 179578108 TTN T TACAAA,TACAAAACAAA 1 0.0211661 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0007 . intronic . 0.0499 0.0013 0.0024 2.75 2 179578159 TTN A G 2 0.00359425 . . . . . . intronic . . . 0.0154 1.5 2 179578703 TTN C T 3 0.00459265 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0039 synonymous_SNV exonic . 0.0034 0.0034 0.0046 6.5 2 179578704 TTN G A 5 0.111422 2.101 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0277 nonsynonymous_SNV exonic T 0.0256 0.0265 0.0254 3.5 2 179578730 TTN G A 50 0.444688 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2023 synonymous_SNV exonic . 0.2012 0.2022 0.2036 1.5 2 179578937 TTN A G 5 0.0804712 . . . . 0.0292 . intronic . 0.0238 0.0262 0.0259 1.5 2 179579093 TTN T C 40 0.247005 -0.712 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1458 nonsynonymous_SNV exonic T 0.1506 0.1501 0.1514 6.5 2 179579212 TTN T C 50 0.483427 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2041 synonymous_SNV exonic . 0.2019 0.2031 0.2030 4.5 2 179579366 TTN G A 5 0.0800719 . . . . . . intronic . . . 0.0259 1.5 2 179579694 TTN T A 5 0.0754792 . MedGen:CN169374 not_specified Benign 0.0293 . intronic . 0.0237 0.0260 0.0258 1.5 2 179579822 TTN T A 50 0.444489 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2020 synonymous_SNV exonic . 0.2005 0.2025 0.2030 4.5 2 179579977 TTN G A 8 0.00938498 3.568 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0207 nonsynonymous_SNV exonic T 0.0223 0.0211 0.0256 6 2 179580171 TTN T C 1 0.000199681 . . . . 1.543e-05 . intronic . . 1.039e-05 . 6.5 2 179580210 TTN G A 5 0.111422 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0278 . intronic . 0.0251 0.0263 0.0254 1.5 2 179580434 TTN A G 3 0.0507188 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0395 synonymous_SNV exonic . 0.0215 0.024 0.0236 1.5 2 179580525 TTN C T 5 0.111422 . . . . 0.0357 . intronic . 0.0246 0.0256 0.0254 1.5 2 179581835 TTN C A 3 0.0513179 0.191 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0268 nonsynonymous_SNV exonic T 0.0214 0.0237 0.0236 4.75 2 179581933 TTN T G 7 0.028754 1.592 . . . . nonsynonymous_SNV exonic T . 0 . 3.5 2 179581971 TTN C T 2 0.00599042 2.691 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0017 8.5 2 179582063 TTN A T 2 0.028754 0.979 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0024 nonsynonymous_SNV exonic T 0.0027 0.0022 0.0023 4.75 2 179582162 TTN C T 40 0.24401 . . . . . . intronic . . . 0.1515 4.5 2 179582166 TTN G A 1 0.000199681 . . . . . . intronic . . . 0.0002 6.5 2 179582327 TTN C T 40 0.24381 1.700 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1461 nonsynonymous_SNV exonic T 0.1508 0.1496 0.1515 6.5 2 179582537 TTN G T 50 0.444888 2.566 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2037 nonsynonymous_SNV exonic T 0.2018 0.2023 0.2029 6.5 2 179582605 TTN A G 42 0.279153 . . . . . . intronic\x3bintronic . . . 0.1546 4.5 2 179582760 TTN T C 1 0.00159744 1.518 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0093 nonsynonymous_SNV exonic T 0.0076 0.0089 0.0069 6.625 2 179582824 TTN C T 3 0.0235623 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0109 synonymous_SNV exonic . 0.0069 0.0099 0.0077 2.75 2 179582853 TTN T C 5 0.0121805 1.513 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0297 nonsynonymous_SNV exonic T 0.0308 0.0299 0.0260 4.75 2 179583317 TTN G A 23 0.0734824 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1051 synonymous_SNV exonic . 0.1101 0.1091 0.1114 1.5 2 179583326 TTN T G 1 0.00499201 1.396 . . . . nonsynonymous_SNV exonic T . . . 6 2 179583398 TTN T C 42 0.271565 . . . . 0.1487 . intronic . 0.1537 0.1523 0.1545 4.5 2 179583496 TTN T G 40 0.238818 0.820 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1454 nonsynonymous_SNV exonic T 0.1517 0.1501 0.1519 3.5 2 179583966 TTN C T 1 0.000199681 3.412 . . . . nonsynonymous_SNV exonic D . 1.802e-05 6.671e-05 8.5 2 179583967 TTN G A 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0018 synonymous_SNV exonic . 0.0019 0.0017 0.0017 6.5 2 179584152 TTN G A 1 0.000399361 3.575 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 4.514e-05 nonsynonymous_SNV exonic D 0.0001 8.994e-05 6.669e-05 11 2 179584366 TTN G T 1 0.00279553 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0023 synonymous_SNV exonic . 0.0033 0.0025 0.0019 5.25 2 179584831 TTN G C 2 0.00599042 0.555 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0020 0.0017 0.0017 8.5 2 179585257 TTN G C 2 0.00499201 1.967 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0025 nonsynonymous_SNV exonic T 0.0021 0.0021 0.0016 7.25 2 179585266 TTN C T 214 0.982029 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9999 0.9996 0.9999 1.5 2 179585393 TTN A G 50 0.460064 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2124 . intronic . 0.1985 0.2036 0.2028 4.5 2 179585963 TTN A G 3 0.0513179 . . . . 0.0350 . intronic . 0.0210 0.0250 0.0236 1.5 2 179586604 TTN C G 8 0.0201677 2.558 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0360 nonsynonymous_SNV exonic T 0.0386 0.0368 0.0401 4.75 2 179586901 TTN G GT 2 0.00758786 . . . . 0.0199 . intronic . 0.0223 0.0199 0.0246 1.5 2 179587130 TTN C G 40 0.247005 2.840 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1457 nonsynonymous_SNV exonic T 0.1523 0.1500 0.1519 6.5 2 179587546 TTN A G 5 0.0940495 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0270 synonymous_SNV exonic . 0.0242 0.0264 0.0253 1.5 2 179587552 TTN T C 3 0.00279553 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0116 synonymous_SNV exonic . 0.0118 0.0118 0.0089 2.125 2 179587670 TTN G A 1 0.000599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign 0.0003 . intronic . 0.0001 0.0001 . 5.25 2 179587687 TTN T C 50 0.48722 . . . . 0.2055 . intronic . 0.2016 0.2033 0.2037 4.5 2 179588535 TTN G A 3 0.00199681 . . . . 0.0048 . intronic . 0.0055 0.0054 0.0089 4 2 179588908 TTN A C 1 0.00219649 . . . . 0.0014 . intronic . 0.0005 0.0011 0.0022 4 2 179589058 TTN G A 2 0.0357428 2.818 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0040 nonsynonymous_SNV exonic T 0.0031 0.0029 0.0041 4.75 2 179589217 TTN C T 1 0.000199681 3.330 . . . 1.511e-05 nonsynonymous_SNV exonic D . 9.036e-06 . 8.5 2 179589241 TTN G A 3 0.0515176 3.167 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0198 nonsynonymous_SNV exonic T 0.0190 0.0195 0.0199 3.5 2 179589260 TTN C T 1 0.000199681 3.991 . . . 1.574e-05 nonsynonymous_SNV exonic T . 2.867e-05 6.669e-05 8.5 2 179590133 TTN C G 2 0.000599042 2.435 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic T 0.0008 0.0010 0.0007 8.5 2 179590329 TTN C T 3 0.00658946 3.112 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0163 nonsynonymous_SNV exonic D 0.0173 0.0179 0.0154 4.125 2 179591757 TTN T C 1 0.000399361 . . . . . . intronic . . . . 6.5 2 179591917 TTN T C 2 0.00599042 -1.660 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0017 8.5 2 179592161 TTN A G 3 0.0513179 . . . . . . intronic . . . 0.0235 1.5 2 179593270 TTN A G 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0115 synonymous_SNV exonic . 0.0104 0.0114 0.0101 4 2 179593352 TTN C T 5 0.0932508 1.515 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0275 nonsynonymous_SNV exonic T 0.0246 0.0266 0.0253 3.5 2 179593862 TTN G A 1 0.0241613 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0067 synonymous_SNV exonic . 0.0065 0.0064 0.0065 2.75 2 179594059 TTN T C 2 0.00599042 0.545 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0017 8.5 2 179594653 TTN C A 1 0.000199681 3.147 . . . 1.635e-05 nonsynonymous_SNV exonic T . 9.07e-06 . 8.5 2 179595117 TTN C G 46 0.348043 . MedGen:CN169374 not_specified Benign 0.1836 . intronic . 0.1789 0.1770 0.1788 4.5 2 179595372 TTN T C 1 0.00219649 1.928 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0112 nonsynonymous_SNV exonic T 0.0104 0.0115 0.0101 6 2 179595577 TTN GT GTT,G 1 0.109225 . . . . . . intronic . . . 0.0278 1.5 2 179595588 TTN TA T 2 0.00858626 . . . . . . intronic\x3bintronic . . . 0.0202 1.5 2 179595589 TTN A T 3 0.0205671 . . . . . . intronic\x3bintronic . . . 0.0004 1.5 2 179596554 TTN T C 1 0.00199681 -1.446 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0086 nonsynonymous_SNV exonic T 0.0072 0.0081 0.0063 8.5 2 179597242 TTN C A 1 0.000399361 1.791 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic D 0.0013 0.0009 0.0007 8.5 2 179597273 TTN A G 1 0.000199681 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Conflicting_interpretations_of_pathogenicity 0.0003 synonymous_SNV exonic . 0.0002 0.0001 0.0001 9 2 179597600 TTN C T 1 0.00359425 2.783 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0080 nonsynonymous_SNV exonic T 0.0091 0.0085 0.0094 8.5 2 179598228 TTN A G 26 0.0295527 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0786 synonymous_SNV exonic . 0.0792 0.0797 0.0776 1.5 2 179599355 TTN G C 2 0.00599042 . . . . 0.0019 . intronic . 0.0020 0.0018 0.0017 4 2 179599473 TTN C G 2 0.00339457 1.514 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0039 nonsynonymous_SNV exonic T 0.0038 0.0037 0.0037 8.5 2 179599667 TTN G C 1 0.00439297 1.674 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0130 nonsynonymous_SNV exonic T 0.0090 0.0092 0.0107 4.75 2 179600303 TTN G C 1 0.00179712 1.289 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0043 nonsynonymous_SNV exonic T 0.0035 0.0032 0.0037 8.5 2 179600563 TTN G A 214 0.981829 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9999 0.9996 0.9999 1.5 2 179600648 TTN C T 7 0.144768 0.315 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0500 nonsynonymous_SNV exonic T 0.0479 0.0473 0.0471 3.5 2 179603837 TTN C T 2 0.00599042 . . . . 0.0019 . intronic . 0.0019 0.0018 0.0017 4 2 179604101 TTN C T 2 0.00599042 2.576 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0017 7.25 2 179604160 TTN T G 5 0.076278 -1.298 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 nonsynonymous_SNV exonic T 0.0431 0.0444 0.0441 3.5 2 179604366 TTN T G 5 0.0760783 -0.781 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 nonsynonymous_SNV exonic T 0.0435 0.0445 0.0440 3.5 2 179604440 TTN A G 1 0.000399361 -1.764 MedGen:CN169374 not_specified Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 9.92e-05 . 8.5 2 179604742 TTN G A 5 0.0766773 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 synonymous_SNV exonic . 0.0433 0.0444 0.0441 1.5 2 179604871 TTN G A 1 0.000599042 . . . . 1.501e-05 synonymous_SNV exonic . . 9.004e-06 . 4 2 179605180 TTN C A,T 1 0.238818 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1283 synonymous_SNV exonic . 0.1283 0.1301 0.1324 4.5 2 179605380 TTN T A 1 0.00299521 -0.005 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0057 nonsynonymous_SNV exonic T 0.0067 0.0059 0.0044 6.625 2 179605705 TTN A G 5 0.0760783 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 synonymous_SNV exonic . 0.0437 0.0444 0.0442 1.5 2 179605725 TTN T C 9 0.0161741 -1.264 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0184 nonsynonymous_SNV exonic T 0.0185 0.0195 0.0161 4.125 2 179605755 TTN G C 1 0.000199681 0.306 . . . . nonsynonymous_SNV exonic T . . . 8.5 2 179605991 TTN G A 3 0.00279553 1.510 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0116 nonsynonymous_SNV exonic T 0.0118 0.0118 0.0087 4.125 2 179606172 TTN C T 2 0.000798722 0.926 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic T 0.0007 0.0005 0.0003 6 2 179606538 TTN G A 12 0.273163 1.979 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0854 nonsynonymous_SNV exonic T 0.0732 0.0740 0.0723 3.5 2 179606590 TTN T C 2 0.000599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0012 synonymous_SNV exonic . 0.0010 0.0008 0.0007 5.25 2 179610967 TTN C T 2 0.00119808 1.745 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0044 nonsynonymous_SNV exonic T 0.0041 0.0045 0.0041 6 2 179611279 TTN G A 1 0.000199681 1.499 . . . 1.505e-05 nonsynonymous_SNV exonic T . 9.032e-06 . 8.5 2 179611552 TTN C T 1 0.000199681 1.711 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance 0.0004 nonsynonymous_SNV exonic T 0.0005 0.0004 0.0005 6 2 179611711 TTN C A 5 0.0772764 0.758 MedGen:CN169374 not_specified Benign 0.0459 nonsynonymous_SNV exonic T 0.0433 0.0444 0.0441 3.5 2 179611847 TTN T G 1 0.000998403 . MedGen:CN169374 not_specified Likely_benign 0.0002 synonymous_SNV exonic . 0.0002 0.0002 0.0004 4 2 179611851 TTN C T 1 0.0399361 . MedGen:CN169374 not_specified Benign 0.0005 synonymous_SNV exonic . 0.0007 0.0003 0.0010 1.5 2 179611875 TTN A G 1 0.0397364 . MedGen:CN169374 not_specified Benign 0.0002 synonymous_SNV exonic . 0.0007 0.0001 0.0010 1.5 2 179612373 TTN A C 1 0.00579073 . MedGen:CN169374 not_specified Benign 0.0032 synonymous_SNV exonic . 0.0037 0.0032 0.0023 4 2 179612383 TTN C T 17 0.0145767 1.322 MedGen:CN169374 not_specified Benign 0.0561 nonsynonymous_SNV exonic T 0.0582 0.0580 0.0492 3.5 2 179612511 TTN G A 1 0.000399361 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0005 synonymous_SNV exonic . 0.0003 0.0006 0.0005 4 2 179612635 TTN C T 2 0.00599042 0.214 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Benign/Likely_benign 0.0024 nonsynonymous_SNV exonic T 0.0022 0.0019 0.0019 7.25 2 179612883 TTN A G 2 0.00339457 . MedGen:CN169374 not_specified Benign 0.0111 synonymous_SNV exonic . 0.0128 0.0125 0.0111 1.5 2 179613049 TTN A G 1 0.000399361 0.341 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic T 0.0013 0.0009 0.0005 6 2 179613191 TTN T C 1 0.00259585 0.041 MedGen:CN169374 not_specified Benign 0.0107 nonsynonymous_SNV exonic T 0.0093 0.0085 0.0068 3.5 2 179613651 TTN G A 7 0.0109824 . MedGen:CN169374 not_specified Benign 0.0288 synonymous_SNV exonic . 0.0356 0.0331 0.0291 1.5 2 179613763 TTN T C 1 0.000798722 0.715 Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Syncope|Hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic T 0.0001 0.0005 0.0005 6 2 179614952 TTN A G 214 0.97504 . MedGen:CN169374 not_specified Benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9999 1.5 2 179615318 TTN T G 1 0.000399361 0.356 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 0.0001 . 8.5 2 179615321 TTN G T 1 0.000199681 . MedGen:CN169374 not_specified Benign 0.0002 synonymous_SNV exonic . 0.0002 0.0002 0.0001 6.5 2 179615887 TTN T C 202 0.733027 0.654 MedGen:CN169374 not_specified Benign 0.9251 nonsynonymous_SNV exonic T 0.9303 0.9291 0.9301 3.5 2 179615931 TTN C G 214 0.97504 0.163 MedGen:CN169374 not_specified Benign 0.9997 nonsynonymous_SNV exonic T 0.9992 0.9998 0.9999 3.5 2 179615994 TTN T C 214 0.97504 . MedGen:CN169374 not_specified Benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9998 1.5 2 179616210 TTN G A 1 0.000998403 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0012 synonymous_SNV exonic . 0.0017 0.0015 0.0019 4 2 179616481 TTN C T 1 0.000399361 1.324 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0007 nonsynonymous_SNV exonic T 0.0005 0.0002 0.0001 6 2 179616770 TTN GAAA GAAAA,GAA,GA,G 1 0.00179712 . . . . 0.0046 . intronic . . 0.0017 8.151e-05 4 2 179618019 TTN T A 202 0.804513 . . . . . . intronic . . . 0.9312 1.5 2 179620951 TTN C T 202 0.804513 3.252 MedGen:CN169374 not_specified Benign 0.9274 nonsynonymous_SNV exonic T 0.9321 0.9303 0.9314 3.5 2 179621184 TTN G A 5 0.00519169 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0164 synonymous_SNV exonic . 0.0146 0.0165 0.0154 2.125 2 179621477 TTN C T 214 0.999002 . MedGen:CN169374 not_specified Benign/Likely_benign 1 nonsynonymous_SNV exonic . 1 1.0000 1 3.5 2 179621503 TTN C T 6 0.00638978 2.386 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0201 nonsynonymous_SNV exonic T 0.0176 0.0202 0.0186 4.125 2 179623758 TTN C T 202 0.808906 1.814 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9274 nonsynonymous_SNV exonic T 0.9324 0.9303 0.9313 3.5 2 179623772 TTN G A 2 0.00259585 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0072 synonymous_SNV exonic . 0.0087 0.0085 0.0071 5.25 2 179623939 TTN T C 214 0.998403 . . . . 1.0000 . intronic . 1 1.0000 1 1.5 2 179628918 TTN C T 2 0.00379393 3.746 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0148 nonsynonymous_SNV exonic T 0.0164 0.0155 0.0153 4.125 2 179629363 TTN T C 214 0.973642 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9999 1.5 2 179629461 TTN C T 202 0.804912 2.855 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9273 nonsynonymous_SNV exonic T 0.9322 0.9303 0.9314 3.5 2 179631091 TTN A T 2 0.000798722 . MedGen:CN169374 not_specified Benign 0.0013 . intronic . 0.0015 0.0014 0.0010 4 2 179631214 TTN T C 11 0.167732 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0720 synonymous_SNV exonic . 0.0667 0.0690 0.0684 1.5 2 179631357 TTN TA T 1 0.00199681 . MedGen:CN169374 not_specified Benign 0.0003 . intronic . . 0.0002 0.0003 4 2 179631362 TTN A C 15 0.145367 . . . . 0.0759 . intronic . . 0.0742 0.0749 1.5 2 179631364 TTN AC A 4 0.0846645 . . . . 0.0263 . intronic . 0.0223 0.0250 0.0241 1.5 2 179632496 TTN T C 5 0.0860623 1.376 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0243 nonsynonymous_SNV exonic T 0.0212 0.0233 0.0225 3.5 2 179632598 TTN C T 1 0.00159744 4.072 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0054 nonsynonymous_SNV exonic T 0.0044 0.0055 0.0112 6 2 179632710 TTN T C 165 0.503994 . . . . 0.7975 . intronic\x3bintronic . 0.7988 0.7994 0.7977 1.5 2 179633644 TTN G C 5 0.0866613 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0243 synonymous_SNV exonic . 0.0215 0.0233 0.0225 1.5 2 179634389 TTN TA T 214 0.996605 . . . . 0.0424 . intronic . . 0.0242 0.1262 1.5 2 179634391 TTN TA T 214 0.996605 . MedGen:CN169374 not_specified Benign 0.0395 . intronic . . 0.0242 0.1261 1.5 2 179634421 TTN T G 42 0.215455 2.313 MedGen:CN169374 not_specified Benign 0.3398 nonsynonymous_SNV exonic D . 0.2334 0.0115 3.5 2 179634936 TTN C T 6 0.08127 2.325 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0476 nonsynonymous_SNV exonic T 0.0451 0.0455 0.0457 3.5 2 179634961 TTN C A 1 0.00758786 2.904 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0212 nonsynonymous_SNV exonic T 0.0220 0.0222 0.0231 4.125 2 179635882 TTN C T 214 0.967851 . . . . . . intronic . . . 0.9996 1.5 2 179635888 TTN C T 1 0.000199681 . . . . 3.009e-05 . intronic . . 0.0001 6.669e-05 6.5 2 179635919 TTN C T 11 0.0155751 . MedGen:CN169374 not_specified Benign 0.0360 . intronic . 0.0377 0.0369 0.0349 1.5 2 179636257 TTN T A 6 0.0814696 . . . . . . intronic . . . 0.0455 1.5 2 179637861 TTN C G 5 0.0754792 1.057 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0458 nonsynonymous_SNV exonic T 0.0433 0.0442 0.0442 3.5 2 179638238 TTN G A 22 0.0754792 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1080 synonymous_SNV exonic . 0.1147 0.1125 0.1134 1.5 2 179638246 TTN C G 2 0.000399361 1.644 . . . 1.499e-05 nonsynonymous_SNV exonic D . 8.983e-06 . 8.5 2 179638721 TTN C T 5 0.0874601 2.444 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0248 nonsynonymous_SNV exonic T 0.0221 0.0234 0.0225 3.5 2 179640152 TTN C T 1 0.000199681 2.105 . . . 1.5e-05 nonsynonymous_SNV exonic D . 8.983e-06 . 8.5 2 179641112 TTN C A 2 0.000798722 2.291 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic T 0.0015 0.0013 0.0010 8.5 2 179641336 TTN C T 1 0.000199681 3.253 MedGen:CN169374 not_specified Likely_benign 4.499e-05 nonsynonymous_SNV exonic T . 8.996e-06 6.663e-05 8.5 2 179641802 LOC101927055 A G 1 0.00579073 . . . . 0.0019 . ncRNA_exonic . 0.0020 0.0013 0.0015 0 2 179641975 TTN C T 5 0.0752796 2.306 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0456 nonsynonymous_SNV exonic T 0.0430 0.0442 0.0440 3.5 2 179642425 LOC101927055 G A 212 0.911542 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9890 . ncRNA_exonic . 0.9914 0.9898 0.9889 -2.5 2 179642589 TTN C G,T 212 0.000399361 4.476 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Uncertain_significance 3.004e-05 nonsynonymous_SNV exonic T . 5.395e-05 0 10.5 2 179643775 TTN C T 1 0.00379393 3.042 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0096 nonsynonymous_SNV exonic T 0.0073 0.0084 0.0162 4.75 2 179643886 LOC101927055 A G 212 0.919928 . . . . 0.9891 . ncRNA_intronic . 0.9913 0.9899 0.9889 -2.5 2 179643934 LOC101927055 A G 212 0.920128 . . . . 0.9891 . ncRNA_intronic . 0.9916 0.9899 0.9889 -2.5 2 179644035 TTN G A 212 0.920128 2.581 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9890 nonsynonymous_SNV exonic T 0.9914 0.9898 0.9889 3.5 2 179644160 TTN T C 5 0.0756789 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0563 synonymous_SNV exonic . 0.0422 0.0441 0.0441 1.5 2 179644848 TTN C G 1 0.000199681 1.775 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 0.0002 6.666e-05 8.5 2 179644855 TTN T C 188 0.5002 2.524 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.8655 nonsynonymous_SNV exonic T 0.8702 0.8685 0.8651 3.5 2 179647546 TTN A G 8 0.0776757 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0500 synonymous_SNV exonic . 0.0476 0.0483 0.0520 1.5 2 179647823 TTN C T 2 0.0828674 . . . . 0.0114 . intronic . 0.0090 0.0102 0.0109 1.5 2 179647824 TTN G A 6 0.0181709 . . . . 0.0336 . intronic . 0.0362 0.0344 0.0353 1.5 2 179648778 TTN C A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 0.0004 . intronic . 0.0006 0.0004 0.0002 4 2 179649134 TTN C A 1 0.000199681 . . . . . . intronic . . . 0 6.5 2 179650408 TTN G A 56 0.100439 2.681 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2383 nonsynonymous_SNV exonic T 0.2345 0.2369 0.2096 3.5 2 179650701 TTN C T 81 0.204673 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.4010 synonymous_SNV exonic . 0.4057 0.4034 0.4251 1.5 2 179650932 TTN G A 1 0.000199681 . . . . . . intronic . . . 0.0001 6.5 2 179654032 TTN T G 2 0.00439297 . . . . . . intronic . . . 0.0134 1.5 2 179654121 TTN G T 16 0.0644968 1.430 . . . 0.0003 nonsynonymous_SNV exonic T . 2.703e-05 . 3.5 2 179654136 TTN C A 1 0.000199681 3.304 . . . . nonsynonymous_SNV exonic T . . . 8.5 2 179654695 TTN C G 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0024 . intronic . 0.0022 0.0018 0.0018 6.5 2 179656963 TTN T C 1 0.000199681 . . . . 0.0012 . intronic . 0.0015 0.0013 0.0011 4 2 179656977 TTN A C 3 0.00958466 . . . . . . intronic . . . 0.0089 4 2 179656993 TTN A C 1 0.00339457 . . . . . . intronic . . . 0.0063 4 2 179658175 TTN C T 5 0.00758786 2.756 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0200 nonsynonymous_SNV exonic T 0.0233 0.0225 0.0207 4.75 2 179658310 TTN T C 1 0.00119808 . . . . 0.0052 . intronic . 0.0042 0.0053 0.0111 1.5 2 179659064 TTN T C 1 0.000199681 . . . . . . intronic . . . 0.0006 4 2 179659110 TTN G A 2 0.00599042 . MedGen:CN169374 not_specified Benign 0.0024 . intronic . 0.0022 0.0018 0.0018 4 2 179659334 TTN A C 2 0.0934505 . . . . . . intronic . . . 0.0109 1.5 2 179659722 TTN G A 1 0.000199681 2.255 . . . . nonsynonymous_SNV exonic T . 0 . 8.5 2 179659757 TTN T C 2 0.00599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0024 synonymous_SNV exonic . 0.0022 0.0018 0.0018 6.5 2 179659815 TTN C G 2 0.0119808 2.453 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0024 nonsynonymous_SNV exonic T 0.0022 0.0018 0.0020 4.75 2 179659912 TTN G A 12 0.236022 2.207 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0508 nonsynonymous_SNV exonic T 0.0531 0.0513 0.0551 3.5 2 179659928 TTN C A 1 0.000199681 1.766 . . . 7.496e-05 nonsynonymous_SNV exonic T . 4.494e-05 . 8.5 2 179660030 TTN T C 4 0.101837 . . . . 0.0138 . intronic . 0.0112 0.0120 0.0128 1.5 2 179665231 TTN G C 1 0.000199681 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign 2.997e-05 synonymous_SNV exonic . . 1.791e-05 . 7.75 2 179665279 TTN G A 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0024 synonymous_SNV exonic . 0.0022 0.0018 0.0018 6.5 2 179666830 TTN G A 19 0.0313498 . . . . 0.0823 . intronic . 0.0849 0.0824 0.0779 1.5 2 179666956 TTN G A 1 0.000199681 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 8.996e-05 synonymous_SNV exonic . . 6.276e-05 . 6.5 2 179666982 TTN C A 3 0.0289537 3.822 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0065 nonsynonymous_SNV exonic T 0.0059 0.0065 0.0050 4.75 2 179667090 TTN C T 107 0.703474 . . . . 0.5666 . intronic . 0.5384 0.5414 0.5640 1.5 2 179669199 TTN C T 1 0.000998403 . . . . . . intronic . . . 0.0019 4 2 179669227 TTN CTGGAG C 2 0.0628994 . . . . . . intronic . 0.0086 . 0.0106 1.5 2 179669244 TTN G GA 1 0.00419329 . . . . 0.0057 . intronic . 0.0045 0.0018 0.0002 4 2 220283259 DES A G 214 0.886182 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.9889 synonymous_SNV exonic . 0.9877 0.9886 0.9896 4.5 2 220283277 DES T C 214 0.866014 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.9886 synonymous_SNV exonic . 0.9880 0.9882 0.9892 4.5 2 220283591 DES T A 1 0.000399361 6.000 MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype Uncertain_significance 0.0003 nonsynonymous_SNV exonic D . 0.0001 0.0002 10.5 2 220283592 DES C T 9 0.0123802 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.0753 synonymous_SNV exonic . 0.0352 0.0384 0.0435 1.5 2 220283826 DES T G 214 1 . . . . . . intronic . . . 1 1.5 2 220284779 DES C T 133 0.529353 . MedGen:CN169374 not_specified Benign 0.6272 . intronic . 0.6303 0.6307 0.6482 1.5 2 220284873 DES G A 1 0.000399361 6.700 Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic D 0.0002 0.0003 0.0001 10.5 2 220284876 DES C T 4 0.00559105 5.554 Gene:1732,MeSH:D065630,MedGen:C1840644,OMIM:142340|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Congenital_diaphragmatic_hernia|Scapuloperoneal_weakness|Myofibrillar_myopathy|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity 0.0153 nonsynonymous_SNV exonic D 0.0137 0.0153 0.0150 5.5 2 220285054 DES A G 1 0.000199681 6.166 . . . . nonsynonymous_SNV exonic D . . . 10.5 2 220285088 DES C T 5 0.00419329 . Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:CN169374 Myofibrillar_myopathy|not_specified Benign 0.0136 . intronic . 0.0109 0.0126 0.0097 1.5 2 220285182 DES C A 7 0.0127796 . MedGen:CN169374 not_specified Benign 0.0511 . intronic . 0.0521 0.0498 0.0476 1.5 2 220285273 DES C T 1 0.00419329 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign 0.0001 synonymous_SNV exonic . 0.0001 7.276e-05 0.0002 4 2 220285309 DES C T 81 0.33746 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.3603 synonymous_SNV exonic . 0.3555 0.3562 0.3400 1.5 2 220285395 DES G A 1 0.000399361 . . . . 3.019e-05 . intronic . . 1.795e-05 . 6.5 2 220285666 DES G C 81 0.33766 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.3631 synonymous_SNV exonic . 0.3551 0.3551 0.3399 1.5 2 220286142 DES G A 81 0.333666 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.3603 synonymous_SNV exonic . 0.3552 0.3567 0.3410 1.5 2 220288562 DES C G 1 0.00539137 . . . . 0.0002 . intronic . . 7.195e-05 . 4 2 220290674 DES G A 1 0.00978435 1.930 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Primary_dilated_cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign 0.0001 nonsynonymous_SNV exonic D 0.0001 0.0002 6.691e-05 7.25 3 8775589 CAV3 C T 25 0.0425319 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202 Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided Benign/Likely_benign 0.1275 synonymous_SNV exonic . 0.1248 0.1301 0.1246 1.5 3 8775661 CAV3 C T 71 0.371006 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202 Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided Benign/Likely_benign 0.2648 synonymous_SNV exonic . 0.2388 0.2547 0.2666 1.5 3 8775702 CAV3 G A 4 0.076877 . MedGen:CN517202 not_provided not_provided 0.0556 . intronic . 0.0499 0.0503 0.0580 1.5 3 8775724 CAV3 G A 3 0.000998403 . . . . 0.0016 . intronic . 0.0015 0.0017 0.0010 4 3 8787164 CAV3 AAGCGGGTGGCTTCTGTG A 27 0.0461262 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Likely_benign 0.1408 . intronic . . 0.1406 0.1347 1.5 3 8787189 CAV3 G C 10 0.0648962 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.0871 . intronic . 0.0891 0.0825 0.0922 4.5 3 8787220 CAV3 T C 38 0.152955 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202 Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided Benign/Likely_benign 0.2372 synonymous_SNV exonic . 0.2410 0.2384 0.2446 1.5 3 8787313 CAV3 C G 2 0.000998403 4.285 Human_Phenotype_Ontology:HP:0003236,MedGen:C0241005,OMIM:123320|Human_Phenotype_Ontology:HP:0006785,MedGen:C0686353,Orphanet:ORPHA263,SNOMED_CT:93153005|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C1853698,OMIM:606072,Orphanet:ORPHA97238|MedGen:C2678485,OMIM:611818|MedGen:C3280443,OMIM:614321|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Elevated_serum_creatine_phosphokinase|Limb-girdle_muscular_dystrophy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Rippling_muscle_disease|Long_QT_syndrome_9|Distal_myopathy,_Tateyama_type|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0012 nonsynonymous_SNV exonic D 0.0017 0.0017 0.0014 8.5 3 8787330 CAV3 C T 4 0.00199681 4.085 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678485,OMIM:611818|MedGen:C3279093|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_9|Long_QT_syndrome_2/9,_digenic|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0042 nonsynonymous_SNV exonic D 0.0044 0.0037 0.0027 7 3 12626019 RAF1 G A 3 0.00439297 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN230736 Rasopathy|not_specified|Cardiovascular_phenotype Benign 0.0111 synonymous_SNV exonic . 0.0112 0.0107 0.0095 1.5 3 12626516 RAF1 G A 92 0.364617 . MedGen:CN169374 not_specified Benign 0.3593 . intronic . 0.3652 0.3577 0.3590 7.5 3 12633168 RAF1 A G 8 0.0213658 . MedGen:CN169374 not_specified Benign 0.0133 . intronic . 0.0119 0.0137 0.0116 4.5 3 12641349 RAF1 A G 2 0.00459265 . MedGen:CN169374 not_specified Likely_benign 0.0147 . intronic . 0.0155 0.0141 0.0115 1.5 3 12641350 RAF1 A G 2 0.00459265 . MedGen:CN169374 not_specified Likely_benign 0.0147 . intronic . 0.0156 0.0141 0.0115 1.5 3 12641873 RAF1 C T 1 0.000199681 . . . . 1.498e-05 . intronic . . 8.956e-06 . 6.5 3 12647830 RAF1 G A 1 0.00299521 . . . . 0.0045 . intronic . 0.0042 0.0039 0.0026 4 3 12650482 RAF1 T A 214 1 . . . . . . intronic . . . 1 1.5 3 14166739 TMEM43 G C 1 0.00199681 . . . . 0.0054 . intronic . 0.0037 0.0045 0.0047 4 3 14166813 TMEM43 G C 1 0.00119808 . . . . . . intronic . . . 0.0011 4 3 14166835 TMEM43 C T 27 0.245807 . . . . . . intronic . . . 0.1146 1.5 3 14171082 TMEM43 C T 1 0.00179712 . . . . 0.0061 . intronic . 0.0055 0.0064 0.0083 4 3 14172381 TMEM43 C T 9 0.00399361 . MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0124 synonymous_SNV exonic . 0.0121 0.0137 0.0123 1.5 3 14172494 TMEM43 G A 1 0.00139776 . . . . 1.547e-05 . intronic . . 9.726e-06 . 4 3 14173963 TMEM43 G T 54 0.45627 . . . . . . intronic . . . 0.2910 1.5 3 14174002 TMEM43 G A 1 0.000199681 . . . . 1.502e-05 . intronic . . 8.959e-06 . 6.5 3 14174146 TMEM43 T C 77 0.557308 . . . . 0.3973 . intronic . 0.4069 0.3989 0.4133 1.5 3 14174170 TMEM43 G C 1 0.000199681 . . . . . . intronic . . . 6.685e-05 6.5 3 14174318 TMEM43 G A 3 0.00499201 . . . . 0.0105 . intronic . 0.0095 0.0102 0.0120 1.5 3 14174427 TMEM43 A T 53 0.352636 2.489 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.2792 nonsynonymous_SNV exonic T 0.2878 0.2838 0.2893 3.5 3 14174454 TMEM43 G T 2 0.00798722 . MedGen:CN169374 not_specified Benign 0.0194 . intronic . 0.0226 0.0219 0.0220 1.5 3 14175262 TMEM43 T C 54 0.463259 0.428 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.2864 nonsynonymous_SNV exonic T 0.2955 0.2909 0.2967 3.5 3 14176446 TMEM43 G A 52 0.350839 . . . . . . intronic . . . 0.2813 1.5 3 14177251 TMEM43 G A 46 0.201877 . . . . . . intronic . . . 0.2547 1.5 3 14177433 TMEM43 G A 1 0.000599042 . MedGen:CN517202 not_provided Likely_benign 0.0011 . intronic . 0.0015 0.0008 0.0006 4 3 14180633 TMEM43 C T 38 0.0964457 . . . . 0.2108 . intronic . 0.2149 0.2122 0.2069 4.5 3 14180706 TMEM43 C T 7 0.0213658 . MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0210 synonymous_SNV exonic . 0.02 0.0213 0.0181 1.5 3 14180732 TMEM43 G A 1 0.000199681 6.388 . . . . nonsynonymous_SNV exonic T . . . 8.5 3 14183326 TMEM43 T C 1 0.00579073 . . . . 0.0108 . UTR3 . 0.0083 0.0094 0.0105 1.5 3 32148371 GPD1L G T 1 0.000199681 . . . . . . intronic . . . 0.0019 0 3 32169509 GPD1L G A 1 0.000199681 . . . . . . intronic . . . . 2.5 3 32181709 GPD1L C A 1 0.000199681 . . . . 0.0002 . intronic . . 8.067e-05 6.662e-05 2.5 3 32181710 GPD1L A T 1 0.000199681 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance 0.0002 . intronic . . 8.066e-05 6.667e-05 2.5 3 32181725 GPD1L A G 1 0.000399361 2.478 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance 2.997e-05 nonsynonymous_SNV exonic T . 8.962e-06 0.0001 4.5 3 32181761 GPD1L C T 35 0.14976 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1307 synonymous_SNV exonic . 0.1387 0.1348 0.1251 -2.5 3 32181798 GPD1L C T 2 0.000399361 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign 0.0003 synonymous_SNV exonic . 0.0003 0.0003 6.664e-05 2.5 3 32188248 GPD1L GA G 4 0.101637 . . . . 0.0185 . intronic . 0.0194 0.0189 0.0159 -2.5 3 32200322 GPD1L T C 46 0.479433 . . . . 0.3354 . intronic . 0.3065 0.3094 0.3225 0.5 3 32200588 GPD1L C T 2 0.000399361 0.097 Human_Phenotype_Ontology:HP:0001522,MedGen:C1844947|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2673193,OMIM:611777|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Death_in_infancy|Brugada_syndrome|Brugada_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0001 nonsynonymous_SNV exonic T 0.0001 0.0002 6.67e-05 4.5 3 32201104 GPD1L C T 1 0.000199681 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN230736 Brugada_syndrome|Cardiovascular_phenotype Likely_benign 0.0001 synonymous_SNV exonic . . 0.0001 . 2.5 3 32201123 GPD1L G T 1 0.000199681 2.083 . . . 1.517e-05 nonsynonymous_SNV exonic T . 8.97e-06 . 4.5 3 38591847 SCN5A G C 1 0.000399361 -2.385 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Likely_benign 0.0020 nonsynonymous_SNV exonic T 0.0016 0.0019 0.0017 6 3 38591888 SCN5A C G 1 0.000199681 -3.096 . . . 1.565e-05 nonsynonymous_SNV exonic T . 2.058e-05 . 8.5 3 38592406 SCN5A A G 76 0.492412 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3338 synonymous_SNV exonic . 0.3336 0.3339 0.3240 1.5 3 38592799 SCN5A G A 1 0.000199681 . MedGen:CN169374 not_specified Benign/Likely_benign 5.993e-05 synonymous_SNV exonic . . 3.58e-05 . 6.5 3 38597180 SCN5A G A 1 0.00119808 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0044 synonymous_SNV exonic . 0.0045 0.0047 0.0060 4 3 38597867 SCN5A C T 30 0.0854633 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign . . intronic . . . 0.0882 4.5 3 38598669 SCN5A A G 12 0.127995 . . . . . . intronic . 0.0597 . 0.0585 1.5 3 38601665 SCN5A C T 2 0.00359425 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0131 synonymous_SNV exonic . 0.0138 0.0134 0.0123 1.5 3 38601722 SCN5A C G 1 0.000199681 1.309 . . . 1.521e-05 nonsynonymous_SNV exonic D . 8.954e-06 . 8.5 3 38603958 SCN5A G A 1 0.000199681 5.635 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1859062,OMIM:603830|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Congenital_long_QT_syndrome|Brugada_syndrome|Long_QT_syndrome_3|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic D 0.0005 0.0003 6.678e-05 8 3 38618080 SCN5A A G 11 0.0345447 . . . . . . intronic . . . 0.0621 1.5 3 38618142 SCN5A G A 1 0.00199681 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Cardiomyopathy|Brugada_syndrome|not_specified Benign 0.0096 . intronic . 0.0064 0.0080 0.0097 4 3 38618342 SCN5A G A 1 0.000798722 . . . . . . intronic . . . 0.0003 4 3 38622467 SCN5A T C 193 0.923123 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.8898 synonymous_SNV exonic . 0.8830 0.8897 0.8978 1.5 3 38622745 SCN5A C A 2 0.000399361 6.503 . . . 3.41e-05 nonsynonymous_SNV exonic D . 1.825e-05 . 10.5 3 38622868 SCN5A G A 8 0.0323482 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0440 . intronic . 0.0430 0.0386 0.0366 1.5 3 38627153 SCN5A G GGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT 8 0.359824 . . . . . . intronic . . . . 1.5 3 38627537 SCN5A G T 1 0.000399361 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity 0.0006 . intronic . 0.0007 0.0008 0.0011 4 3 38628851 SCN5A A AC 2 0.00139776 . . . . 0.0041 . intronic . 0.0042 0.0043 0.0044 4 3 38628879 SCN5A C T 5 0.00239617 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN239310 Cardiomyopathy|Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0048 . intronic . 0.0031 0.0037 0.0037 5 3 38640536 SCN5A C T 1 0.000199681 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Likely_benign 3.212e-05 synonymous_SNV exonic . . 1.841e-05 . 6.5 3 38645420 SCN5A T C 50 0.230431 -1.102 . . . 0.2246 nonsynonymous_SNV exonic T 0.2321 0.2301 0.2467 3.5 3 38645506 SCN5A A G 2 0.00199681 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0085 synonymous_SNV exonic . 0.0081 0.0073 0.0062 4 3 38645516 SCN5A C T 1 0.000399361 2.390 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Uncertain_significance 6.115e-05 nonsynonymous_SNV exonic T 0.0001 4.607e-05 6.673e-05 8.5 3 38646423 SCN5A C T 42 0.17512 . MedGen:CN169374 not_specified Benign 0.2266 . intronic . 0.1935 0.1983 0.2173 1.5 3 38647642 SCN5A G T 42 0.151158 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1847 . intronic . 0.1850 0.1870 0.2089 1.5 3 38649621 SCN5A G A 1 0.000199681 . . . . 4.496e-05 . intronic . . 5.386e-05 0 6.5 3 38651442 SCN5A G A 2 0.00139776 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0053 synonymous_SNV exonic . 0.0067 0.0054 0.0049 4 3 38655354 SCN5A C A 1 0.000199681 . . . . 3.303e-05 . intronic . . 1.158e-05 . 6.5 3 38655358 SCN5A G A 1 0.000199681 . . . . 0.0004 . intronic . 0.0006 0.0004 0.0002 4 3 38655643 SCN5A C T 43 0.223043 . . . . . . intronic . . . 0.1556 1.5 3 38662276 SCN5A C T 1 0.000199681 . . . . . . intronic . . . . 6.5 3 38662310 SCN5A C T 1 0.000599042 . . . . 0 . intronic . . 0 0 4 3 38671768 SCN5A G T 10 0.0465256 . MedGen:CN169374 not_specified Benign 0.0337 . intronic . 0.0368 0.0341 0.0309 1.5 3 38671840 SCN5A G A 1 0.00539137 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0031 synonymous_SNV exonic . 0.0029 0.0029 0.0034 4 3 38671944 SCN5A G A 2 0.0644968 . MedGen:CN169374 not_specified Benign 0.0184 . intronic . 0.0175 0.0185 0.0191 1.5 3 38674475 SCN5A C T 11 0.0385383 . . . . . . intronic . 0.0377 . 0.0342 1.5 3 38674652 SCN5A C T 2 0.000399361 . . . . 3.081e-05 synonymous_SNV exonic . . 1.809e-05 . 6.5 3 38674712 SCN5A T C 178 0.781749 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7906 synonymous_SNV exonic . 0.8072 0.7949 0.7774 1.5 3 38739353 SCN10A G A 1 0.000399361 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign 0.0006 synonymous_SNV exonic . 0.0003 0.0005 0.0005 0 3 38739455 SCN10A G A 1 0.000199681 . . . . 5.994e-05 synonymous_SNV exonic . 0.0002 6.285e-05 0.0001 2.5 3 38739494 SCN10A G A 5 0.014377 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0303 synonymous_SNV exonic . 0.0308 0.0317 0.0334 -2.5 3 38739574 SCN10A T C 214 1 0.227 MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic T . 1 1 -0.5 3 38739622 SCN10A C T 4 0.00638978 0.274 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0144 nonsynonymous_SNV exonic T 0.0137 0.0139 0.0133 -0.5 3 38739845 SCN10A A G 201 0.92472 . MedGen:CN169374 not_specified Benign 0.9180 synonymous_SNV exonic . 0.9151 0.9162 0.9122 -2.5 3 38740001 SCN10A C T 4 0.0579073 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0148 synonymous_SNV exonic . 0.0142 0.0143 0.0139 -2.5 3 38743314 SCN10A G A 1 0.00519169 . MedGen:CN169374 not_specified Benign 0.0005 . intronic . 0.0006 0.0004 0.0003 0 3 38743571 SCN10A G A 1 0.000199681 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign/Likely_benign 0.0016 synonymous_SNV exonic . 0.0009 0.0015 0.0042 0 3 38743629 SCN10A G A 4 0.00359425 . . . . 0.0079 . intronic . 0.0064 0.0081 0.0063 1 3 38748833 SCN10A T C 39 0.242412 . MedGen:CN169374 not_specified Benign 0.1396 synonymous_SNV exonic . 0.1430 0.1404 0.1377 -2.5 3 38748883 SCN10A A G 1 0.000199681 . . . . 4.501e-05 . intronic . . 4.486e-05 . 2.5 3 38752386 SCN10A T G 1 0.000199681 . . . . 1.646e-05 synonymous_SNV exonic . . 1.798e-05 . 2.5 3 38753977 SCN10A C T 60 0.251997 . . . . 0.2667 . intronic . 0.2617 0.2594 0.2686 -2.5 3 38755505 SCN10A G A 1 0.000199681 11.990 . . . 3e-05 stopgain exonic . . 8.957e-06 . 7.5 3 38755637 SCN10A A G 1 0.0740815 . . . . . . intronic . . . 0.0131 -2.5 3 38763863 SCN10A G C 61 0.219649 . MedGen:CN169374 not_specified Benign 0.2636 synonymous_SNV exonic . 0.2602 0.2571 0.2677 -2.5 3 38764998 SCN10A A G 61 0.219649 0.961 MedGen:CN169374 not_specified Benign 0.3007 nonsynonymous_SNV exonic T 0.26 0.2587 0.2678 -0.5 3 38765075 SCN10A C T 1 0.000599042 . . . . 0.0004 . intronic . 0.0001 0.0002 6.67e-05 0 3 38766675 SCN10A A G 130 0.757987 -0.943 MedGen:CN169374 not_specified Benign 0.6036 nonsynonymous_SNV exonic T 0.6019 0.6030 0.6167 -0.5 3 38766701 SCN10A C T 17 0.115415 . MedGen:CN169374 not_specified Benign 0.1411 synonymous_SNV exonic . 0.1414 0.1448 0.1510 -2.5 3 38766825 SCN10A A G 13 0.0844649 . MedGen:CN169374 not_specified Benign 0.0512 . intronic . 0.0492 0.0506 0.0473 -2.5 3 38768212 SCN10A G A 1 0.000599042 4.779 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign 0.0014 nonsynonymous_SNV exonic T 0.0014 0.0018 0.0013 2 3 38768247 SCN10A G A 70 0.190495 . MedGen:CN169374 not_specified Benign 0.2635 synonymous_SNV exonic . 0.2614 0.2571 0.2661 -2.5 3 38768300 SCN10A T C 70 0.210663 -1.544 MedGen:CN169374 not_specified Benign 0.2642 nonsynonymous_SNV exonic T 0.2620 0.2575 0.2662 -0.5 3 38768334 SCN10A T C 17 0.135982 . MedGen:CN169374 not_specified Benign 0.0644 synonymous_SNV exonic . 0.0648 0.0656 0.0613 -2.5 3 38768427 SCN10A G T 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 2.5 3 38768609 SCN10A G A 1 0.000199681 . . . . . . intronic . . . 6.663e-05 2.5 3 38769983 SCN10A C T 1 0.000199681 . . . . 3.126e-05 . intronic . . 2.357e-05 . 2.5 3 38770391 SCN10A A G 1 0.000199681 5.824 . . . 3.044e-05 nonsynonymous_SNV exonic D . 6.533e-05 . 6.5 3 38780971 SCN10A G A 42 0.1873 . . . . 0.2548 . intronic . 0.2509 0.2555 0.2653 -2.5 3 38784010 SCN10A C A 1 0.000199681 2.858 . . . 1.509e-05 nonsynonymous_SNV exonic D . 9.052e-06 . 4.5 3 38784029 SCN10A T C 131 0.757788 . MedGen:CN169374 not_specified Benign 0.5976 . intronic . 0.5951 0.5958 0.6096 -2.5 3 38784056 SCN10A A C 5 0.137979 . . . . 0.0299 . intronic . 0.0297 0.0296 0.0286 -2.5 3 38791482 SCN10A C T 5 0.137979 . . . . . . intronic . . . 0.0275 -2.5 3 38791507 SCN10A C T 13 0.0880591 . . . . . . intronic . . . 0.0470 -2.5 3 38793940 SCN10A A G 5 0.139976 -0.356 MedGen:CN169374 not_specified Benign 0.0288 nonsynonymous_SNV exonic T 0.0280 0.0285 0.0276 -0.5 3 38793989 SCN10A G A 70 0.207668 . MedGen:CN169374 not_specified Benign 0.2599 synonymous_SNV exonic . 0.2523 0.2507 0.2585 -2.5 3 38798171 SCN10A C T 70 0.207468 . MedGen:CN169374 not_specified Benign 0.2542 synonymous_SNV exonic . 0.2509 0.2474 0.2567 -2.5 3 38802155 SCN10A A G 1 0.00139776 . MedGen:CN169374 not_specified Likely_benign 0.0031 . intronic . 0.0031 0.0035 0.0026 0 3 38802251 SCN10A A G 77 0.388778 . MedGen:CN169374 not_specified Benign 0.2855 . intronic . 0.2826 0.2779 0.2867 -2.5 3 38802620 SCN10A TGTCCCTATATGATACCAAGGGTCCAACCAGACCTTG T 3 0.0091853 . . . . . . intronic . . . 0.0237 -2.5 3 38804951 SCN10A G A 2 0.00159744 . . . . 0.0047 . intronic . 0.0064 0.0048 0.0039 0 3 38805069 SCN10A T C 4 0.0419329 1.807 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0156 nonsynonymous_SNV exonic T 0.0159 0.0156 0.0147 -0.5 3 38805130 SCN10A C G 7 0.11901 . . . . 0.0471 . intronic . 0.0463 0.0457 0.0483 -2.5 3 38805157 SCN10A G A 6 0.00279553 . . . . . . intronic . . . 0.0105 -2.5 3 38812708 SCN10A C T 77 0.416334 . . . . . . intronic . . . 0.3799 -2.5 3 38835173 SCN10A T A 2 0.00379393 . . . . . . intronic . . . 0.0099 0 3 38835457 SCN10A G A 4 0.00299521 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0072 synonymous_SNV exonic . 0.0107 0.0087 0.0101 -2.5 3 38835461 SCN10A C A 2 0.00119808 5.749 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign 0.0032 nonsynonymous_SNV exonic D 0.0030 0.0027 0.0030 4 3 38835509 SCN10A T A 1 0.000599042 . MedGen:CN169374 not_specified Likely_benign 0.0014 . upstream . 0.0013 0.0015 0.0035 0 3 46899725 MYL3 G A 1 0.000199681 . MedGen:CN169374 not_specified Benign 0.0001 . UTR3 . 0.0002 9.847e-05 0.0001 6.5 3 46900051 MYL3 G A 11 0.147165 . . . . . . intronic . . . 0.0788 4.5 3 46902129 MYL3 T G 26 0.462859 . MedGen:CN169374 not_specified Benign 0.1263 . intronic . 0.1248 0.1198 0.1208 1.5 3 46902491 MYL3 C A 2 0.000998403 . MedGen:C1837471,OMIM:608751|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_8|not_specified Benign/Likely_benign 0.0020 . intronic . 0.0037 0.0022 0.0023 5.25 3 46902578 MYL3 C T 1 0.000399361 . . . . . . intronic . . . 0.0003 6.5 3 46904708 MYL3 C A 26 0.39397 . MedGen:CN169374 not_specified Benign 0.1246 . intronic . 0.1230 0.1187 0.1196 4.5 3 46904812 MYL3 G A 3 0.0371406 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837471,OMIM:608751|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_8|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0066 synonymous_SNV exonic . 0.0074 0.0065 0.0075 2.75 3 52485889 TNNC1 C T 1 0.000199681 . . . . . . intronic . . . . 6.5 3 57743337 SLMAP C G 51 0.192492 . . . . 0.1964 . UTR5 . 0.1936 0.1945 0.1874 0.5 3 57835630 SLMAP G A 1 0.000399361 . . . . . . intronic . . . 6.66e-05 2.5 3 57843561 SLMAP C T 1 0.000599042 . . . . 0.0002 . intronic . . 0.0002 0.0001 0 3 57846577 SLMAP C A 55 0.228634 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.2301 . intronic . 0.1615 0.2452 0.2002 -2.5 3 57846627 SLMAP A G 1 0.000798722 . . . . . . intronic . . . 0.0012 0 3 57847871 SLMAP A G 1 0.000199681 . . . . . . intronic . . . . 2.5 3 57857439 SLMAP A G 8 0.0147764 . MedGen:CN169374 not_specified Benign 0.0489 . intronic . 0.0506 0.0523 0.0452 -2.5 3 57882601 SLMAP C T 60 0.299521 . MedGen:CN169374 not_specified Benign 0.2669 synonymous_SNV exonic . 0.2420 0.2560 0.2499 -2.5 3 57893558 SLMAP A G 1 0.000199681 . . . . . . intronic . . . . 2.5 3 57898376 SLMAP T A 7 0.0071885 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign 0.0282 synonymous_SNV exonic . 0.0320 0.0294 0.0254 -2.5 3 57898433 SLMAP A G 1 0.000399361 . . . . 0.0004 . intronic . 0.0005 0.0003 0.0002 0 3 57902639 SLMAP G A 9 0.0133786 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign 0.0334 synonymous_SNV exonic . 0.0322 0.0327 0.033 -2.5 3 57908594 SLMAP CT C 51 0.1875 . . . . 0.1998 . intronic . 0.1907 0.2014 0.1827 -2.5 3 57912985 SLMAP G A 1 0.000399361 . . . . 0.0006 . intronic . 0.0001 0.0004 0.0001 0 3 57913141 SLMAP T A 1 0.000199681 . . . . 0 . UTR3 . . 0 . 2.5 3 180702494 DNAJC19 T G 1 0.00199681 . MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374 3-methylglutaconic_aciduria_type_V|not_specified Benign 0.0078 synonymous_SNV exonic . 0.0043 0.0055 0.0099 0 3 180703653 DNAJC19 T C 1 0.000199681 . . . . . . intronic . . . . 2.5 3 180703663 DNAJC19 A C 1 0.00199681 . . . . 0.0048 . intronic . 0.0062 0.0043 0.0027 0 3 180703743 DNAJC19 C T 1 0.000199681 4.150 . . . 3.003e-05 nonsynonymous_SNV exonic T . 1.792e-05 . 4.5 3 180705871 DNAJC19 C T 3 0.00279553 . MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374 3-methylglutaconic_aciduria_type_V|not_specified Conflicting_interpretations_of_pathogenicity 0.0043 synonymous_SNV\x3bsynonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic\x3bexonic . 0.0044 0.0045 0.0026 0 3 180705940 DNAJC19 C T 1 0.000199681 . . . . . . intronic\x3bintronic\x3bintronic . . 2.686e-05 . 2.5 3 180706141 DNAJC19 CT C 61 0.289936 . . . . . . intronic . . . 0.0364 -2.5 3 196771513 DLG1 G A 7 0.0251597 4.635 . . . 0.0535 nonsynonymous_SNV exonic T 0.0471 0.0510 0.0556 3.5 3 196771521 DLG1 G A 1 0.000199681 . . . . 0.0001 synonymous_SNV exonic . . 0.0002 0.0003 6.5 3 196771554 DLG1 T C 7 0.0253594 . . . . 0.0535 synonymous_SNV exonic . 0.0470 0.0517 0.0557 1.5 3 196778421 DLG1 A C 3 0.0115815 . . . . 0.0046 . intronic . 0.0031 0.0038 0.0021 1.5 3 196778438 DLG1 C T 57 0.264577 . . . . 0.2687 . intronic . 0.28 0.2717 0.2591 1.5 3 196786804 DLG1 G A 1 0.000199681 . . . . 1.5e-05 synonymous_SNV exonic . . 8.962e-06 . 6.5 3 196792163 DLG1 C T 1 0.00419329 7.123 . . . 0.0247 nonsynonymous_SNV exonic T 0.0245 0.0250 0.0240 3.5 3 196793475 DLG1 A T 7 0.0289537 . . . . . . intronic . . . 0.0580 1.5 3 196795292 DLG1 TAATC T 1 0.00299521 . . . . . . intronic . . . 0.0063 4 3 196795342 DLG1 A C 1 0.000199681 . . . . . . intronic . . 1.04e-05 . 6.5 3 196795442 DLG1 T C 1 0.00119808 . . . . 0.0022 . intronic . 0.0020 0.0020 0.0017 4 3 196795990 DLG1 T C 2 0.000399361 . . . . . . intronic . . . . 6.5 3 196796231 DLG1 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 3 196796248 DLG1 TTTTC T 15 0.0369409 . . . . . . intronic . . . 0.0442 1.5 3 196802740 DLG1 T C 1 0.000199681 2.048 . . . 1.501e-05 nonsynonymous_SNV exonic T . 8.993e-06 . 8.5 3 196803647 DLG1 T C 63 0.252596 . . . . . . intronic . . . 0.2834 1.5 3 196807928 DLG1 A C 4 0.00559105 1.923 . . . 0.0109 nonsynonymous_SNV exonic T 0.0134 0.0119 0.0103 3.5 3 196808026 DLG1 A C 1 0.000199681 . . . . 0.0003 . intronic . . 0.0004 0.0003 6.5 3 196817735 DLG1 A T 7 0.029353 . . . . 0.0561 . intronic . 0.0502 0.0550 0.0580 1.5 3 196831946 DLG1 C T 3 0.00738818 . . . . . . intronic . . . 0.0184 1.5 3 196846378 DLG1 G A 1 0.000199681 2.660 . . . 3.013e-05 nonsynonymous_SNV exonic T . 2.701e-05 . 8.5 3 196846437 DLG1 C T 34 0.0794728 . . . . 0.1958 . intronic . 0.1755 0.1763 0.1724 1.5 3 196865242 DLG1 C T 38 0.127995 4.417 . . . 0.1487 nonsynonymous_SNV exonic T 0.1473 0.1455 0.1379 3.5 3 196865301 DLG1 A G 7 0.0255591 . . . . 0.1585 . intronic . . 0.0809 0.0550 1.5 3 196869518 DLG1 T C 57 0.257188 . . . . . . intronic . 0.2719 . 0.2613 1.5 3 196869688 DLG1 A G 214 0.993211 . . . . 1.0000 . intronic . 0.9999 1.0000 1 1.5 3 196876600 DLG1 G A 34 0.0766773 . . . . 0.1784 . intronic . 0.1783 0.1725 0.1723 1.5 3 196876717 DLG1 G A 1 0.00139776 . . . . 0.0025 . intronic . 0.0031 0.0032 0.0027 4 3 196876775 DLG1 T TTA 34 0.105032 . . . . . . intronic . . . 0.1721 1.5 3 196921360 DLG1 T C 13 0.0145767 2.040 . . . 0.0470 nonsynonymous_SNV exonic T 0.0443 0.0453 0.0511 3.5 3 196921477 DLG1 C T 2 0.000998403 . . . . 0.0007 . intronic . 0.0009 0.0005 0.0002 4 3 197009609 DLG1 G A 1 0.000199681 4.090 . . . 0.0001 nonsynonymous_SNV exonic T 0.0002 0.0001 . 8.5 4 113825680 ANK2 G T 1 0.000199681 . . . . . . intronic . . . . 6.5 4 113971067 ANK2 A G 1 0.000399361 . . . . . . intronic . . . 0.0012 4 4 114117472 ANK2 C T 31 0.179113 . . . . . . intronic . . . 0.1479 1.5 4 114117474 ANK2 A AT 31 0.179113 . . . . 0.1522 . intronic . 0.1442 0.1499 0.1482 1.5 4 114120284 ANK2 C T 3 0.0253594 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign 0.0343 . intronic . 0.0293 0.0358 0.0413 1.5 4 114158111 ANK2 T C 1 0.000399361 . . . . 0.0007 . intronic . 0.0005 0.0007 0.0005 4 4 114158395 ANK2 TA T 3 0.0107827 . . . . . . intronic . . . 0.0391 1.5 4 114161619 ANK2 T C 2 0.00279553 . . . . 0.0110 . intronic . 0.0116 0.0122 0.0117 1.5 4 114171076 ANK2 A G 5 0.0549121 . . . . . . intronic . . . 0.0509 1.5 4 114176848 ANK2 GA G 1 0.00159744 . . . . 0.2109 . intronic . 0.1409 0.1401 0.0383 1.5 4 114176850 ANK2 A G 1 0.00159744 . . . . 0 . intronic . . 0 0 4 4 114179348 ANK2 C T 1 0.000399361 . . . . 0.0008 . intronic . 0.0003 0.0006 0.0006 4 4 114186005 ANK2 C T 3 0.0291534 . . . . 0.0322 . intronic . 0.0318 0.0367 0.0425 1.5 4 114186067 ANK2 A G 1 0.00159744 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0076 synonymous_SNV exonic . 0.0040 0.0035 0.0029 4 4 114209691 ANK2 C T 28 0.0790735 . . . . 0.1173 . intronic . 0.1069 0.1139 0.1055 1.5 4 114209732 ANK2 T C 32 0.177716 . . . . . . intronic . . . 0.1126 1.5 4 114213551 ANK2 C T 4 0.00359425 . . . . 0.0183 . intronic . 0.0094 0.0125 0.0108 1.5 4 114213561 ANK2 G A 1 0.00119808 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related Benign/Likely_benign 0.0100 . intronic . 0.0071 0.0081 0.0086 4 4 114213631 ANK2 C T 5 0.0215655 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign 0.0445 synonymous_SNV exonic . 0.0366 0.0355 0.0472 1.5 4 114213705 ANK2 C T 9 0.00499201 . . . . 0.0152 . intronic . 0.0122 0.0122 0.0101 1.5 4 114214524 ANK2 G T 2 0.00479233 . . . . . . intronic . . . 6.665e-05 4 4 114214588 ANK2 C T 1 0.00419329 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified Benign/Likely_benign 0.0098 . intronic . 0.0110 0.0102 0.0079 1.5 4 114254240 ANK2 G T 1 0.000599042 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign 0.0012 synonymous_SNV exonic . 0.0009 0.0008 0.0003 4 4 114254322 ANK2 A G 2 0.000399361 2.396 . . . 1.498e-05 nonsynonymous_SNV exonic D . 8.953e-06 . 8.5 4 114257201 ANK2 C T 19 0.260383 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0990 synonymous_SNV exonic . 0.1038 0.0993 0.1036 1.5 4 114257694 ANK2 A G 1 0.000199681 . . . . 0 . intronic . . 1.233e-05 . 6.5 4 114260492 ANK2 G T 19 0.228634 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374 Long_QT_syndrome|not_specified Benign/Likely_benign 0.0990 . intronic . 0.1044 0.1002 0.1049 1.5 4 114260538 ANK2 C T 19 0.230032 . . . . . . intronic . . . 0.1046 1.5 4 114263101 ANK2 T G 34 0.0479233 . . . . 0.1359 . intronic . 0.1369 0.1366 0.1228 1.5 4 114267023 ANK2 G A 214 0.9998 . . . . 0.9996 . intronic . 0.9997 0.9996 0.9995 1.5 4 114269499 ANK2 T G 19 0.0894569 . . . . 0.0004 . intronic . . 2.7e-05 . 1.5 4 114269509 ANK2 G A 3 0.0960463 . . . . 0.0185 . intronic . 0.0213 0.0199 0.0182 1.5 4 114269552 ANK2 G A 38 0.284744 . . . . . . intronic . . . 0.1610 1.5 4 114275177 ANK2 C G 1 0.000199681 . . . . 1.501e-05 synonymous_SNV exonic . . 2.701e-05 . 6.5 4 114275243 ANK2 C T 24 0.0389377 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1139 synonymous_SNV exonic . 0.1119 0.1123 0.1214 1.5 4 114275541 ANK2 G A 57 0.26258 4.891 . . . 0.0015 nonsynonymous_SNV exonic T . 0 . 3.5 4 114275942 ANK2 C G 5 0.11881 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0232 synonymous_SNV exonic . 0.0244 0.0239 0.0209 1.5 4 114275950 ANK2 C T 1 0.000199681 1.613 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic T 0.0007 0.0008 0.0012 6 4 114275980 ANK2 G A 1 0.000998403 3.507 Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Cardiac_arrest|Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Likely_benign 0.0014 nonsynonymous_SNV exonic T 0.0012 0.0013 0.0011 6 4 114276422 ANK2 C G 3 0.00139776 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0036 synonymous_SNV exonic . 0.0033 0.0037 0.0029 4 4 114276880 ANK2 T C 24 0.0920527 -2.250 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1189 nonsynonymous_SNV exonic T 0.1163 0.1166 0.1250 3.5 4 114276884 ANK2 A G 38 0.284944 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1603 synonymous_SNV exonic . 0.1620 0.1576 0.1616 1.5 4 114276957 ANK2 A C 1 0.000199681 0.715 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0003 8.5 4 114276986 ANK2 A T 1 0.000199681 4.593 . . . 2.999e-05 nonsynonymous_SNV exonic T . 1.802e-05 . 8.5 4 114278277 ANK2 C T 14 0.187899 0.373 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0414 nonsynonymous_SNV exonic T 0.0457 0.0410 0.0371 3.5 4 114278684 ANK2 C T 1 0.000199681 . . . . 1.499e-05 synonymous_SNV exonic . . 1.798e-05 . 6.5 4 114278935 ANK2 C T 1 0.000199681 2.531 . . . 1.502e-05 nonsynonymous_SNV exonic D . 9.018e-06 . 8.5 4 114279422 ANK2 A G 26 0.0920527 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1192 synonymous_SNV exonic . 0.1158 0.1167 0.1244 1.5 4 114279628 ANK2 T C 4 0.00399361 4.950 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0114 nonsynonymous_SNV exonic D 0.0090 0.0107 0.0123 3.5 4 114279674 ANK2 C A 8 0.00998403 2.371 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0264 nonsynonymous_SNV exonic D 0.0317 0.0271 0.0297 3.5 4 114280145 ANK2 G A 2 0.00199681 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0045 synonymous_SNV exonic . 0.0031 0.0038 0.0025 4 4 114280169 ANK2 G A 1 0.000399361 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0032 synonymous_SNV exonic . 0.0043 0.0044 0.0038 4 4 114284645 ANK2 C T 24 0.0756789 . MedGen:C1970119,OMIM:600919|MedGen:CN169374 Cardiac_arrhythmia,_ankyrin_B-related|not_specified Benign 0.1185 . intronic . 0.1156 0.1161 0.1243 1.5 4 114286207 ANK2 T A 2 0.00199681 4.753 EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0011675,MedGen:C0855329,SNOMED_CT:248650006|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmia|Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0043 nonsynonymous_SNV exonic T 0.0031 0.0037 0.0025 6 4 114286357 ANK2 ATG A 198 0.76877 . MedGen:CN169374 not_specified Benign 0.5224 . intronic . . . 0.7868 1.5 4 114289049 ANK2 A C 1 0.000199681 . . . . 1.527e-05 . intronic . . 9.295e-06 . 6.5 4 114289062 ANK2 G A 4 0.0714856 . . . . . . intronic . . . 0.0203 1.5 4 114294308 ANK2 T C 38 0.313299 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1581 synonymous_SNV exonic . 0.1601 0.1561 0.1617 1.5 4 114302634 ANK2 C T 6 0.0177716 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified Benign/Likely_benign 0.0394 . UTR3 . 0.0347 0.0373 0.0282 1.5 4 120072006 MYOZ2 C T 1 0.000399361 . . . . 0.0018 . intronic . 0.0015 0.0013 0.0011 4 4 120072187 MYOZ2 A G 4 0.00379393 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0149 synonymous_SNV exonic . 0.0140 0.0147 0.0127 2.125 4 120072233 MYOZ2 G C 145 0.54353 . . . . 0.7007 . intronic . 0.7245 0.7077 0.7039 7.5 4 120072238 MYOZ2 A G 145 0.544129 . . . . 0.7008 . intronic . 0.7248 0.7074 0.7035 7.5 4 120079159 MYOZ2 A G 145 0.546326 . MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_16|not_specified|not_provided Benign 0.7014 . intronic . 0.7257 0.7092 0.7063 8.125 4 120085448 MYOZ2 A G 7 0.0838658 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0251 synonymous_SNV exonic . 0.0248 0.0257 0.0257 2.75 4 120107098 MYOZ2 G GT 37 0.240216 . MedGen:CN169374 not_specified Benign 0.2616 . intronic . 0.1878 0.2415 0.2039 1.5 4 186064502 SLC25A4 G A 4 0.0788738 . MedGen:CN169374|MedGen:CN239267 not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions Benign 0.0167 . UTR5 . 0.0099 0.0102 0.0144 1.5 4 186066373 SLC25A4 T C 2 0.00239617 . MedGen:CN169374|MedGen:CN239267 not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions Benign/Likely_benign 0.0109 synonymous_SNV exonic . 0.0105 0.0112 0.0143 1.5 4 186067934 SLC25A4 G A 1 0.000199681 . . . . 1.499e-05 . intronic . . 1.793e-05 6.665e-05 6.5 4 186423397 PDLIM3 G A 1 0.00379393 . . . . 0.0042 . UTR3 . 0.0052 0.0051 0.0045 4 4 186423436 PDLIM3 G A 4 0.00858626 . MedGen:CN169374 not_specified Benign 0.0131 . UTR3 . 0.0129 0.0120 0.0125 1.5 4 186423637 PDLIM3 G A 153 0.659545 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.8484 synonymous_SNV exonic . 0.8535 0.8525 0.8604 1.5 4 186423655 PDLIM3 G A 24 0.139177 . MedGen:CN169374 not_specified Benign 0.1615 . intronic . 0.1602 0.1637 0.1652 1.5 4 186423677 PDLIM3 G A 153 0.659545 . . . . 0.8494 . intronic . 0.8542 0.8534 0.8605 1.5 4 186425571 PDLIM3 A G 3 0.0369409 . . . . . . intronic . . . 0.0121 1.5 4 186425638 PDLIM3 C T 1 0.000199681 2.167 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0002 nonsynonymous_SNV exonic T 0.0003 0.0002 0.0001 11 4 186427686 PDLIM3 G A 1 0.000199681 . . . . 3e-05 synonymous_SNV exonic . . 2.686e-05 . 6.5 4 186427735 PDLIM3 G A 5 0.00559105 1.346 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0242 nonsynonymous_SNV exonic T 0.0210 0.0253 0.0287 4.125 4 186427841 PDLIM3 T C 154 0.764177 . . . . 0.8507 . intronic . 0.8549 0.8550 0.8625 1.5 4 186427871 PDLIM3 A G 57 0.197883 . . . . . . intronic . . . 0.1225 1.5 4 186435435 PDLIM3 C T 1 0.000599042 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign 0.0029 synonymous_SNV exonic . 0.0020 0.0025 0.0022 4.625 4 186435563 PDLIM3 A G 1 0.000199681 . . . . . . intronic . . . 0.0002 6.5 4 186444698 PDLIM3 A C 160 0.719249 . . . . . . intronic . . . 0.8765 1.5 4 186446257 PDLIM3 G A 2 0.00259585 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0107 synonymous_SNV exonic . 0.0099 0.0109 0.0099 2.125 4 186446365 PDLIM3 G A 1 0.000399361 . . . . 0.0001 . intronic . 0.0001 0.0002 0.0001 6.5 4 186456617 PDLIM3 A G 214 0.948283 . . . . 0.9997 . UTR5 . 0.9993 0.9996 0.9997 1.5 5 218381 SDHA T TC 20 0.247005 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208 Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency Likely_benign . . UTR5 . . . 0.1132 1.5 5 218598 SDHA G A 100 0.329872 . . . . . . intronic . . . 0.4979 1.5 5 223646 SDHA A T 8 0.0185703 0.820 Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0442 nonsynonymous_SNV exonic T 0.0456 0.0458 0.0444 3.5 5 224418 SDHA T G 20 0.247404 . . . . . . intronic . . . 0.1138 4.5 5 224633 SDHA A G 20 0.240016 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1253 synonymous_SNV exonic . 0.1294 0.1261 0.1134 4.5 5 224684 SDHA G A 2 0.00439297 . . . . 0.0042 . intronic . 0.0057 0.0053 0.0047 4 5 224692 SDHA G T 20 0.244209 . . . . . . intronic . . . 0.1137 4.5 5 225515 SDHA G T 1 0.00139776 . MedGen:C3279992,OMIM:614165|MedGen:CN169374 Paragangliomas_5|not_specified Likely_benign 0.0033 . intronic . 0.0026 0.0035 0.0041 4 5 225709 SDHA G A 1 0.113019 . . . . 0.0033 . intronic . 0.0034 0.0029 0.0025 7.5 5 225941 SDHA C T 40 0.307907 . . . . . . intronic . . . 0.2604 4.5 5 226160 SDHA A C 20 0.247404 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1279 synonymous_SNV exonic . 0.1359 0.1282 0.1135 4.5 5 226222 SDHA T C 20 0.247404 . . . . . . intronic . . . 0.1137 4.5 5 228278 SDHA CT C 20 0.234625 . MedGen:CN169374 not_specified Benign 0.1271 . intronic . 0.1308 0.1225 0.1127 1.5 5 228362 SDHA T C 20 0.247404 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1275 synonymous_SNV exonic . 0.1360 0.1282 0.1140 4.5 5 230942 SDHA G C 3 0.000998403 . . . . . . intronic . . . . 4 5 230943 SDHA T C 3 0.000998403 . . . . . . intronic . . . . 4 5 230980 SDHA A G 167 0.858427 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.8837 . intronic . 0.8817 0.8844 0.8853 7.5 5 231042 SDHA C T 1 0.00998403 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0036 synonymous_SNV exonic . 0.0036 0.0024 0.0025 4 5 231111 SDHA T C 140 0.653355 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.7574 synonymous_SNV exonic . 0.7582 0.7575 0.7589 7.5 5 231143 SDHA T C 20 0.247404 . . . . 0.1276 . intronic . 0.1356 0.1278 0.1139 4.5 5 233560 SDHA G A 1 0.114018 . . . . 0.0032 . intronic . 0.0035 0.0029 0.0025 7.5 5 233572 SDHA A G 20 0.247204 . MedGen:CN169374 not_specified Benign 0.1277 . intronic . 0.1364 0.1284 0.1138 4.5 5 233698 SDHA G A 2 0.000399361 . MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Likely_benign 0.0013 synonymous_SNV exonic . 0.0012 0.0015 0.0011 4 5 233734 SDHA C G 20 0.257788 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1283 synonymous_SNV exonic . 0.1373 0.1285 0.1132 4.5 5 235345 SDHA C G 2 0.000399361 12.451 MedGen:C0027672,SNOMED_CT:699346009 Hereditary_cancer-predisposing_syndrome Pathogenic 3.003e-05 stopgain exonic . . 1.793e-05 . 11.5 5 235364 SDHA C T 1 0.113618 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0032 synonymous_SNV exonic . 0.0035 0.0029 0.0025 7.5 5 235416 SDHA T C 1 0.000199681 6.036 . . . 1.503e-05 nonsynonymous_SNV exonic D . 8.953e-06 . 10.5 5 236482 SDHA A G 2 0.00219649 . . . . . . intronic . . . . 4 5 236587 SDHA G T 3 0.0151757 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0235 synonymous_SNV exonic . 0.0208 0.0197 0.0196 1.5 5 236695 SDHA C T 1 0.000798722 . MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0033 synonymous_SNV exonic . 0.0036 0.0019 0.0021 4 5 236753 SDHA C T 20 0.246805 . . . . 0.1254 . intronic . 0.1336 0.1260 0.1119 4.5 5 236760 SDHA C A 22 0.2498 . . . . 0.1345 . intronic . 0.1403 0.1342 0.1191 4.5 5 240663 SDHA A T 20 0.247604 . . . . . . intronic . . . 0.1135 4.5 5 251055 SDHA G A 1 0.00239617 . . . . . . intronic . 0.0083 . 0.0130 1.5 5 251178 SDHA G A 4 0.00199681 . MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0029 synonymous_SNV exonic . 0.0028 0.0029 0.0015 5 5 251207 SDHA C T 1 0.000399361 3.930 MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5 Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic D . 2.694e-05 . 8.5 5 251419 SDHA C T 20 0.248203 . . . . 0.1187 . intronic . . 0.1172 0.1130 1.5 5 251469 SDHA G A 20 0.248403 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1280 synonymous_SNV exonic . . 0.1231 0.1131 1.5 5 251526 SDHA C T 1 0.000199681 . MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Likely_benign 4.531e-05 synonymous_SNV exonic . . 7.184e-05 . 6.5 5 251541 SDHA A G 20 0.248403 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1276 synonymous_SNV exonic . 0.1357 0.1272 0.1137 4.5 5 254442 SDHA C T 214 0.973442 . . . . 0.9994 . intronic . . 0.9994 0.9997 1.5 5 254636 SDHA C T 17 0.0355431 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1175 . intronic . . 0.1164 0.1161 1.5 5 256422 SDHA A T 1 0.000399361 . . . . 0.0002 . intronic . 0.0001 0.0002 0.0002 6.5 5 256472 SDHA G A 53 0.335264 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1407 synonymous_SNV exonic . 0.1436 0.1323 0.1233 4.5 5 256509 SDHA G A 19 0.175319 0.913 Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1205 nonsynonymous_SNV exonic T 0.1299 0.1229 0.1084 6.5 5 37294473 NUP155 T C 68 0.277157 . . . . 0.3075 synonymous_SNV exonic . 0.2929 0.2896 0.2895 1.5 5 37298896 NUP155 C T 1 0.000199681 . . . . . . intronic . . . 6.664e-05 6.5 5 37307389 NUP155 T C 5 0.0589058 . . . . 0.0429 . intronic . 0.0406 0.0425 0.0498 1.5 5 37309371 NUP155 TAGA T 67 0.269169 . . . . 0.3044 . intronic . 0.2911 0.2847 0.2869 1.5 5 37314287 NUP155 T TA 1 0.000599042 . . . . 0.0031 . intronic . 0.0019 0.0024 0.0022 4 5 37318029 NUP155 T C 1 0.000199681 . . . . . . intronic . . . 0.0001 6.5 5 37325919 NUP155 A C 5 0.0423323 . . . . . . intronic . . . 0.0482 1.5 5 37325940 NUP155 T C 26 0.147963 . . . . . . intronic . 0.1479 . 0.1647 1.5 5 37327832 NUP155 G A 1 0.000199681 . . . . 1.499e-05 synonymous_SNV exonic . . 8.955e-06 . 6.5 5 37328643 NUP155 T C 1 0.000599042 . . . . . . intronic . . . 0.0016 4 5 37331795 NUP155 A G 1 0.00159744 . . . . 0.0069 synonymous_SNV exonic . 0.0069 0.0067 0.0053 4 5 37333727 NUP155 A G 29 0.355032 . . . . 0.1704 synonymous_SNV exonic . 0.1599 0.1620 0.1693 1.5 5 37337942 NUP155 T C 1 0.000199681 2.170 . . . 1.5e-05 nonsynonymous_SNV exonic T . 8.958e-06 . 8.5 5 37341352 NUP155 T C 50 0.188698 . . . . 0.2136 . intronic . 0.2115 0.2132 0.2138 1.5 5 37350390 NUP155 C A 28 0.33766 . . . . 0.1666 . intronic . 0.1597 0.1619 0.1696 1.5 5 37351270 NUP155 C A 1 0.000798722 . . . . 0.0016 . intronic . . 0.0020 0.0023 4 5 37352816 NUP155 C T 1 0.000798722 . . . . 9.408e-05 . intronic . 0.0002 0.0002 0.0001 4 5 37352829 NUP155 G A 2 0.0656949 . . . . 0.0038 . intronic . 0.0041 0.0043 0.0034 1.5 5 37364133 NUP155 CTTT C 1 0.0169728 . . . . 0.0002 . intronic . 0.0005 0.0002 0.0003 1.5 5 37364443 NUP155 C T 214 0.969649 . . . . 1.0000 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.9999 0.9999 0.9999 1.5 5 37371059 NUP155 G A 4 0.0071885 . . . . 0.0105 synonymous_SNV exonic . 0.0085 0.0087 0.0098 1.5 5 155756623 SGCD G T 1 0.000199681 . . . . 0.0026 . intronic . 0.0020 0.0026 0.0027 4 5 155771458 SGCD G T 1 0.00119808 . . . . 0.0134 . intronic . 0.0128 0.0121 0.0107 1.5 5 155771579 SGCD T C 100 0.485423 . MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign 0.4360 synonymous_SNV exonic . 0.4316 0.4309 0.4331 1.5 5 155935708 SGCD G A 9 0.0189696 7.006 MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0635 nonsynonymous_SNV exonic T 0.0642 0.0636 0.0574 3.5 5 155935720 SGCD T C 3 0.00279553 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0084 . intronic . 0.0091 0.0077 0.0090 4 5 156022101 SGCD G A 1 0.000399361 . . . . 0.0003 . intronic . 0.0002 0.0004 0.0006 4 5 156074654 SGCD TAAATTGA T 186 0.89996 . . . . . . intronic . . . 0.8870 1.5 5 172659511 na C A 71 0.255591 . MedGen:CN169374 not_specified Benign . . UTR3 . . . 0.3645 -2.5 5 172660004 na C T 4 0.00479233 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|MedGen:C3276096,OMIM:108900|MedGen:CN169374|MedGen:CN230736 Atrial_septal_defect|Atrial_septal_defect_7_with_or_without_atrioventricular_conduction_defects|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0108 synonymous_SNV exonic . 0.0077 0.0069 0.0061 -2.5 5 172660099 na C T 1 0.000199681 6.295 MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance . nonsynonymous_SNV exonic D . . . 6.5 5 172660523 na T A 98 0.610623 . MedGen:CN169374 not_specified Benign 0.3887 . intronic\x3bintronic . . . 0.2954 -2.5 5 172660527 na T A 85 0.403355 . . . . 0.3725 . intronic\x3bintronic . . 0.3637 0.4326 -2.5 5 172661690 na C T 1 0.00519169 . . . . . . intronic . . . 0.0178 -2.5 5 172661843 na A T 1 0.000199681 1.130 . . . 3.396e-05 nonsynonymous_SNV exonic T . 2.024e-05 . 4.5 5 172662024 na T C 60 0.535743 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3027 synonymous_SNV exonic . 0.2813 0.2975 0.2926 -2.5 6 7542148 DSP C CA 23 0.199681 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.1686 . UTR5 . 0.1456 0.1365 0.1418 1.5 6 7542236 DSP G A 1 0.00219649 -2.115 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011663,MedGen:C2063326|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0033 nonsynonymous_SNV exonic T 0.0019 0.0018 0.0015 8.5 6 7542253 DSP G A 3 0.00339457 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN239181 Cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0160 synonymous_SNV exonic . 0.0087 0.0095 0.0049 4 6 7542274 DSP T C 15 0.0609026 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.1147 synonymous_SNV exonic . 0.0524 0.0557 0.0529 1.5 6 7556063 DSP C T 6 0.0125799 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0373 . intronic . 0.0378 0.0372 0.0343 2.75 6 7558318 DSP T C 59 0.15615 . MedGen:CN169374 not_specified Benign 0.2346 . intronic . 0.2349 0.2348 0.2266 1.5 6 7563982 DSP C T 1 0.000199681 2.649 . . . 1.499e-05 nonsynonymous_SNV exonic D . 8.958e-06 . 8.5 6 7563983 DSP T G 214 1 . MedGen:CN169374 not_specified Likely_benign 0.9985 synonymous_SNV exonic . 0.9981 0.9986 0.9992 1.5 6 7564139 DSP C G 60 0.345647 . . . . . . intronic . . . 0.2848 1.5 6 7565627 DSP G T 1 0.000199681 2.456 . . . 1.5e-05 nonsynonymous_SNV exonic T . 8.961e-06 . 8.5 6 7565727 DSP A T 10 0.0183706 5.980 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0394 nonsynonymous_SNV exonic D 0.0419 0.0397 0.0387 10.5 6 7565801 DSP C G 1 0.000199681 . . . . 1.502e-05 . intronic . . 2.707e-05 . 6.5 6 7566745 DSP G GA 4 0.0239617 . . . . 0.0688 . intronic . 0.0299 0.0676 0.0008 1.5 6 7567970 DSP C T 166 0.772764 . MedGen:CN169374 not_specified Benign 0.7683 . intronic . 0.7752 0.7668 0.7545 1.5 6 7569353 DSP T C 1 0.000199681 . . . . . . intronic . . . . 6.5 6 7571874 DSP G A 167 0.819688 . . . . . . intronic . . . 0.7589 1.5 6 7572026 DSP T A 92 0.508986 . MedGen:CN169374 not_specified Benign 0.4094 . intronic . 0.4183 0.4132 0.4019 1.5 6 7572262 DSP A G 167 0.774361 . MedGen:CN169374 not_specified Benign 0.7720 synonymous_SNV exonic . 0.7795 0.7704 0.7585 1.5 6 7574536 DSP T C 4 0.140974 . . . . 0.0119 . intronic . 0.0104 0.0076 0.0081 1.5 6 7574852 DSP T C 15 0.0638978 . . . . 0.0556 . intronic . 0.0577 0.0556 0.0533 1.5 6 7576527 DSP G A 170 0.735423 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.7998 synonymous_SNV exonic . 0.8024 0.8007 0.7824 1.5 6 7577260 DSP C T 50 0.27516 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.2210 synonymous_SNV exonic . 0.2159 0.2193 0.2309 1.5 6 7577354 DSP C A 141 0.69389 . . . . . . intronic . . . 0.6006 1.5 6 7578189 DSP G A 62 0.279353 . . . . . . intronic . . . 0.3081 1.5 6 7578819 DSP T G 170 0.740016 . MedGen:CN169374 not_specified Benign 0.7995 . intronic . 0.8023 0.8006 0.7798 1.5 6 7578823 DSP G A 170 0.764377 . MedGen:CN169374 not_specified Benign 0.7998 . intronic . 0.8030 0.8006 0.7813 1.5 6 7579705 DSP G C 1 0.000199681 5.683 . . . 3.022e-05 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D . 2.695e-05 . 6.5 6 7580285 DSP A C 1 0.000399361 0.765 MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic D 0.0001 0.0003 0.0001 11 6 7580346 DSP G C 1 0.000199681 4.219 . . . 3.023e-05 nonsynonymous_SNV exonic T . 1.8e-05 . 8.5 6 7580386 DSP G A 3 0.00579073 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0192 synonymous_SNV exonic . 0.0149 0.0178 0.0175 4 6 7580935 DSP C T 1 0.000199681 . . . . 1.516e-05 synonymous_SNV exonic . . 9.08e-06 . 6.5 6 7580958 DSP A G 8 0.203275 0.670 MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.0455 nonsynonymous_SNV exonic T 0.0442 0.0418 0.0382 3.5 6 7581001 DSP C A 1 0.0511182 -0.527 MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.0005 nonsynonymous_SNV exonic T 0.0007 0.0005 0.0003 4.125 6 7581196 DSP G A 2 0.0071885 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0193 synonymous_SNV exonic . 0.0174 0.0192 0.0175 2.75 6 7581636 DSP G A 33 0.240415 0.509 MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN517202 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|not_provided Benign 0.1230 nonsynonymous_SNV exonic T 0.1257 0.1218 0.1245 3.5 6 7581641 DSP G A 1 0.000399361 0.993 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Gene:192115,Human_Phenotype_Ontology:HP:0002076,MedGen:C0149931,OMIM:157300,SNOMED_CT:37796009|Human_Phenotype_Ontology:HP:0002301,MedGen:C0018991|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239850|MedGen:CN517202 Primary_dilated_cardiomyopathy|Migraine|Hemiplegia|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Arrhythmogenic_right_ventricular_dysplasia|not_provided Conflicting_interpretations_of_pathogenicity 0.0016 nonsynonymous_SNV exonic T 0.0013 0.0019 0.0011 11 6 7582993 DSP A T 6 0.00399361 6.311 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|not_provided Conflicting_interpretations_of_pathogenicity 0.0139 nonsynonymous_SNV exonic T 0.0130 0.0136 0.0147 6 6 7583885 DSP T C 3 0.00658946 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0127 synonymous_SNV exonic . 0.0136 0.0142 0.0129 2.75 6 7583946 DSP C T 1 0.000199681 6.649 MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma Uncertain_significance 0 nonsynonymous_SNV exonic D . 0 0 10.5 6 7584617 DSP C T 83 0.211661 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.3568 synonymous_SNV exonic . 0.3690 0.3556 0.3318 1.5 6 7584876 DSP C T 1 0.000199681 5.363 . . . 1.503e-05 nonsynonymous_SNV exonic D . 8.965e-06 . 10.5 6 7585670 DSP C A 9 0.0239617 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0674 synonymous_SNV exonic . 0.0633 0.0675 0.0605 2.75 6 7585967 DSP G C 153 0.709465 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:C4014393,OMIM:615821|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|Cardiomyopathy,_dilated,_with_woolly_hair,_keratoderma,_and_tooth_agenesis|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.7101 synonymous_SNV exonic . 0.7173 0.7084 0.6820 2.125 6 7586120 DSP T A 2 0.00319489 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN239181|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiomyopathy,_ARVC|not_provided Benign/Likely_benign 0.0075 . UTR3 . 0.0109 0.0072 0.0071 2.75 6 26087649 HFE G A 1 0.000199681 . . . . 9.191e-05 . UTR5 . 0.0002 0.0002 . 2.5 6 26087856 HFE T A 71 0.39377 . . . . . . intronic . . . 0.4144 3.5 6 26091047 HFE A G 1 0.000199681 . . . . 0.0001 . intronic . 0.0002 0.0001 0.0003 2.5 6 26091179 HFE C G 38 0.0730831 4.570 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202 Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided Pathogenic,_other,_risk_factor 0.1368 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D 0.1513 0.1441 0.1440 -2.5 6 26091185 HFE A T 1 0.00399361 4.972 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200 Hereditary_hemochromatosis|Hemochromatosis_type_1 Uncertain_significance 0.0149 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D 0.0151 0.0155 0.0137 -2.5 6 26091309 HFE T C 1 0.000199681 3.831 . . . . nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D . . . 2.5 6 26091336 HFE T C 75 0.426717 . MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374 Hereditary_hemochromatosis|not_specified Benign/Likely_benign 0.3205 . intronic\x3bintronic . 0.3356 0.3247 0.3213 -2.5 6 26092865 HFE C G 1 0.0425319 . . . . 0.0017 . intronic . 0.0007 0.0017 0.0014 -2.5 6 26093125 HFE G A 1 0.00179712 5.999 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200 Hereditary_hemochromatosis|Hemochromatosis_type_1 Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T 0.0007 0.0005 0.0003 0 6 26093141 HFE G A 6 0.0125799 5.270 .|.|.|Human_Phenotype_Ontology:HP:0000992,MedGen:C0349506|Human_Phenotype_Ontology:HP:0010473,MedGen:C0151861|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3150862|MedGen:C3280096,OMIM:614193|MedGen:C3469186,OMIM:235200|MedGen:CN517202 Alzheimer_disease,_susceptibility_to|Porphyria_cutanea_tarda,_susceptibility_to|Porphyria_variegata,_susceptibility_to|Cutaneous_photosensitivity|Porphyrinuria|Hereditary_cancer-predisposing_syndrome|Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis,_juvenile,_digenic|Transferrin_serum_level_quantitative_trait_locus_2|Hemochromatosis_type_1|not_provided Conflicting_interpretations_of_pathogenicity,_association,_other,_risk_factor 0.0514 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D 0.0641 0.0573 0.0593 0.5 6 26093236 HFE G A 16 0.13139 . . HFE_INTRONIC_POLYMORPHISM Benign 0.1300 . intronic\x3bintronic . 0.1291 0.1251 0.1261 -2.5 6 26093297 HFE G A 1 0.00319489 . . . . 0.0097 . intronic . 0.0083 0.0098 0.0110 -2.5 6 26093303 HFE T C 13 0.21865 . . . . 0.0689 . intronic . 0.0628 0.0640 0.0660 -2.5 6 26094346 HFE G A 1 0.000199681 . . . . . . intronic . . . . 2.5 6 26094367 HFE G A 91 0.590655 . . . . 0.4562 . intronic . 0.4708 0.4553 0.4539 -2.5 6 26094515 HFE C T 1 0.0091853 . . . . . . UTR3 . . . 0.0004 0 6 76538403 MYO6 G A 110 0.687899 . . . . . . intronic . . . 0.5246 1.5 6 76540088 MYO6 A G 1 0.000199681 . . . . 0.0002 . intronic . . 0.0003 0.0002 6.5 6 76545684 MYO6 T C 33 0.102636 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.1482 . intronic . 0.1521 0.1492 0.1487 1.5 6 76550237 MYO6 A G 33 0.102835 . . . . . . intronic . . . 0.1482 1.5 6 76554593 MYO6 G A 209 0.997804 . . . . 0.9853 . intronic . 0.9868 0.9856 0.9873 1.5 6 76558200 MYO6 G A 1 0.000199681 3.506 MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic T 0.0002 0.0003 0.0002 8.5 6 76558260 MYO6 A AT 7 0.139577 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Likely_benign 0.0582 . intronic . 0.0583 0.0576 0.0565 1.5 6 76564953 MYO6 A G 2 0.0265575 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.0138 synonymous_SNV exonic . 0.0130 0.0142 0.0145 1.5 6 76566810 MYO6 A G 3 0.00199681 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0033 . intronic . 0.0042 0.0036 0.0039 4 6 76572240 MYO6 T G 1 0.000199681 . . . . . . intronic . . . . 6.5 6 76572389 MYO6 A G 1 0.000199681 . . . . 1.5e-05 synonymous_SNV exonic . . 1.792e-05 . 6.5 6 76576290 MYO6 C T 14 0.0289537 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.0624 synonymous_SNV exonic . 0.0609 0.0615 0.0583 1.5 6 76595634 MYO6 C A 33 0.1252 . . . . . . intronic . . . 0.1485 1.5 6 76596728 MYO6 C T 71 0.147764 . MedGen:CN169374 not_specified Benign 0.3227 . intronic . 0.3349 0.3302 0.3225 7.5 6 76599787 MYO6 C T 1 0.000399361 3.313 MedGen:CN239435|MedGen:CN239439 Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Uncertain_significance 6.076e-05 nonsynonymous_SNV exonic D 0.0001 6.291e-05 0.0001 8.5 6 76607983 MYO6 T A 84 0.348842 . . . . . . intronic . . . 0.3927 4.5 6 76608251 MYO6 T C 1 0.00139776 . . . . . . intronic . . . 0.0011 4 6 76617511 MYO6 A ATGTGTGTG 53 0.138778 . . . . . . intronic . . . 0.3121 1.5 6 76618299 MYO6 A G 1 0.000199681 2.531 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance 0.0001 nonsynonymous_SNV exonic T 0.0001 8.061e-05 6.665e-05 8.5 6 76624538 MYO6 G A 5 0.00559105 7.271 MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.0140 nonsynonymous_SNV exonic D 0.0130 0.0122 0.0090 5.5 6 76624741 MYO6 C T 71 0.146965 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.3592 . UTR3 . 0.3343 0.3327 0.3216 7.5 6 112430850 LAMA4 C T 2 0.0463259 . . . . . . intronic . . . 0 1.5 6 112435264 LAMA4 T G 55 0.240016 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2679 . intronic . 0.2706 0.2662 0.2602 2.125 6 112435273 LAMA4 A C 55 0.240016 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2678 . intronic . 0.2716 0.2663 0.2608 2.125 6 112435335 LAMA4 G A 1 0.000599042 7.024 MedGen:CN169374 not_specified Uncertain_significance 0.0002 nonsynonymous_SNV exonic D . 0.0002 . 8 6 112435444 LAMA4 G GAAT 55 0.240815 . . . . 0.2663 . intronic . 0.2699 0.2652 0.2626 1.5 6 112435796 LAMA4 G C 56 0.240815 . . . . . . intronic . . . 0.2667 1.5 6 112435807 LAMA4 G T 56 0.227236 . . . . . . intronic . . . 0.2668 1.5 6 112435912 LAMA4 A T 59 0.281749 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2904 synonymous_SNV exonic . 0.2894 0.2864 0.2846 2.125 6 112438912 LAMA4 GA G 31 0.229233 . . . . 0.1785 . intronic . 0.1688 0.1727 0.2059 1.5 6 112439071 LAMA4 G C 1 0.00139776 3.989 . . . 6.154e-05 nonsynonymous_SNV exonic T . 1.822e-05 . 6 6 112440311 LAMA4 C G 1 0.000199681 . . . . . . intronic . . . . 6.5 6 112440380 LAMA4 T C 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 6 112440464 LAMA4 G A 2 0.0666933 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0013 synonymous_SNV exonic . 0.0020 0.0011 0.0007 2.125 6 112441727 LAMA4 A C 1 0.000199681 . . . . 1.843e-05 . intronic . . 1.01e-05 . 6.5 6 112451012 LAMA4 A AT 1 0.00579073 . . . . . . intronic . . . 0.0032 4 6 112457383 LAMA4 G C 55 0.210463 4.097 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2560 nonsynonymous_SNV exonic T 0.2603 0.2561 0.2516 4.125 6 112457390 LAMA4 C T 142 0.839856 2.280 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.7033 nonsynonymous_SNV exonic T 0.6965 0.7023 0.7204 4.125 6 112457471 LAMA4 G A 142 0.840455 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.7030 . intronic . 0.6959 0.7021 0.7197 2.125 6 112460365 LAMA4 C T 1 0.00359425 8.015 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0138 nonsynonymous_SNV exonic D 0.0130 0.0139 0.0135 6.125 6 112460511 LAMA4 C T 1 0.00159744 . MedGen:CN169374 not_specified Likely_benign 0.0003 . intronic . 0.0006 0.0004 0.0003 4 6 112460541 LAMA4 G A 60 0.300519 . . . . 0.2639 . intronic . 0.27 0.2637 0.2578 4.5 6 112461135 LAMA4 C T 1 0.000798722 . . . . 0.0020 . intronic . 0.0023 0.0019 0.0019 4 6 112463253 LAMA4 T G 1 0.000199681 . . . . . . intronic . . . . 6.5 6 112463419 LAMA4 C T 1 0.000199681 1.299 MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0001 nonsynonymous_SNV exonic T 0.0002 0.0002 6.662e-05 11 6 112463545 LAMA4 G A 1 0.000798722 . . . . 0.0005 . intronic . 0.0001 0.0004 0.0005 4 6 112466086 LAMA4 C T 1 0.000798722 . MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype Benign/Likely_benign 1.503e-05 synonymous_SNV exonic . . 8.974e-06 0 5.25 6 112469480 LAMA4 C T 1 0.000199681 . MedGen:C3808935,OMIM:615235 Dilated_cardiomyopathy_1JJ Likely_benign 8.994e-05 synonymous_SNV exonic . . 9.867e-05 0.0001 7.75 6 112471688 LAMA4 G C 64 0.3127 . . . . 0.2714 . intronic . 0.2797 0.2705 0.2618 4.5 6 112476210 LAMA4 T C 63 0.3127 . . . . . . intronic . . . 0.2627 4.5 6 112480041 LAMA4 A G 22 0.091254 . MedGen:CN169374 not_specified Benign 0.0987 synonymous_SNV exonic . 0.0881 0.0964 0.1301 1.5 6 112486397 LAMA4 G A 2 0.000798722 4.719 MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype|not_provided Likely_benign 0.0023 nonsynonymous_SNV exonic T 0.0023 0.0023 0.0031 7.25 6 112493774 LAMA4 C T 2 0.00139776 . . . . 0.0039 . intronic . 0.0053 0.0044 0.0037 4 6 112493790 LAMA4 T C 2 0.000399361 . . . . 0.0007 . intronic . 0.0007 0.0006 0.0006 4 6 112493872 LAMA4 A G 140 0.758387 -0.041 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.6004 nonsynonymous_SNV exonic T 0.6020 0.5971 0.6020 4.125 6 112496511 LAMA4 C A 6 0.08127 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0145 . intronic . 0.0110 0.0128 0.0112 2.125 6 112496690 LAMA4 G C 2 0.0315495 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0004 . intronic . 0.0005 0.0006 0.0004 2.125 6 112499245 LAMA4 G A 2 0.0329473 . . . . . . intronic . . . 0.0004 1.5 6 112506375 LAMA4 G A 111 0.416933 . . . . . . intronic . . . 0.4486 1.5 6 112506583 LAMA4 G T 168 0.900559 . . . . 0.7137 . intronic . 0.7115 0.7083 0.7025 1.5 6 112508745 LAMA4 G A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 0.0003 synonymous_SNV exonic . 0.0005 0.0003 0.0004 4 6 112508769 LAMA4 T G 214 1 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 1.0000 synonymous_SNV exonic . . 1 1 1.5 6 112508770 LAMA4 G T 214 1 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 1 nonsynonymous_SNV exonic . . 1 1 3.5 6 112512905 LAMA4 G A 28 0.316893 . MedGen:CN169374 not_specified Benign 0.1338 synonymous_SNV exonic . 0.1219 0.1299 0.1536 1.5 6 112522852 LAMA4 G A 14 0.0309505 7.272 MedGen:CN169374 not_specified Benign 0.0609 nonsynonymous_SNV exonic T 0.0649 0.0648 0.0627 3.5 6 112522893 LAMA4 A C 3 0.0207668 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0140 . intronic . 0.0103 0.0122 0.0107 2.125 6 112528149 LAMA4 AAAACA AAAACAAAACAAAACG,A 3 . . . . . . . intronic . . . . 9 6 112537497 LAMA4 A G 92 0.489417 . . . . . . intronic . . . 0.3337 1.5 6 112537682 LAMA4 A G 9 0.0121805 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0252 . intronic . 0.0195 0.0231 0.0220 2.125 6 112574962 LOC101927640 C T 1 0.000199681 . . . . 1.501e-05 . ncRNA_intronic . . 8.99e-06 . 2.5 6 112575203 LAMA4 C T 2 0.000399361 . MedGen:C3808935,OMIM:615235 Dilated_cardiomyopathy_1JJ Likely_benign 0.0001 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . . 3.604e-05 0.0001 7.75 6 118880029 PLN C T 1 0.000599042 . . . . . . UTR5 . . . 0.0009 4 6 121768710 GJA1 G A 4 0.034345 . MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN031062,OMIM:241550|MedGen:CN169374 Syndactyly|Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|Hypoplastic_left_heart_syndrome_1|not_specified Benign/Likely_benign 0.0126 synonymous_SNV exonic . 0.0148 0.0124 0.0153 -2.5 6 121768751 GJA1 C T 4 0.00299521 0.820 MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN169374 Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|not_specified Benign/Likely_benign 0.0123 nonsynonymous_SNV exonic T 0.0160 0.0138 0.0119 -0.5 6 121769144 GJA1 T TA 3 0.0579073 . MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:CN031062,OMIM:241550|MedGen:CN169374 Syndactyly|Oculodentodigital_dysplasia|Hypoplastic_left_heart_syndrome_1|not_specified Benign 0.0447 . UTR3 . 0.0471 0.0426 0.0512 -2.5 6 123539684 TRDN C T 174 0.761182 . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Benign . . UTR3 . . . 0.7892 -2.5 6 123539685 TRDN T C 106 0.465256 . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Benign . . UTR3 . . . 0.4543 -2.5 6 123539904 TRDN C T 106 0.375998 . MedGen:CN169374 not_specified Benign 0.5013 . intronic . 0.4593 0.4754 0.4510 -2.5 6 123542784 TRDN C A 1 0.000199681 . . . . . . intronic . . . . 2.5 6 123545159 TRDN GA G 110 0.50639 . . . . . . intronic . . . 0.4794 -2.5 6 123580660 TRDN C T 119 0.335264 . . . . . . intronic . . . 0.5090 -2.5 6 123580675 TRDN C T 40 0.319888 . . . . . . intronic . . . 0.1909 -2.5 6 123581843 TRDN T A 1 0.00279553 . . . . . . intronic . . . . 0 6 123588810 TRDN A G 1 0.00239617 . . . . 0.0053 . intronic . 0.0037 0.0039 0.0037 0 6 123591138 TRDN T A 40 0.324481 . . . . . . intronic . . . 0.1903 -2.5 6 123594217 TRDN G A 5 0.00219649 . . . . . . intronic . . . 0.0056 1 6 123594426 TRDN G A 1 0.00119808 . . . . . . intronic . . . 0.0037 0 6 123594510 TRDN T TA 40 0.262979 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.2040 . splicing . 0.1584 0.1639 0.1900 -2.5 6 123594634 TRDN G T 1 0.000399361 . . . . . . intronic . . . . 2.5 6 123595869 TRDN A C 40 0.263179 . . . . . . intronic . 0.1708 . 0.1901 -2.5 6 123599505 TRDN A C 2 0.00279553 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0159 . intronic . 0.0092 0.0108 0.0081 -2.5 6 123600184 TRDN G A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 0.0002 . intronic . 0.0001 0.0001 0.0002 2.5 6 123600356 TRDN T A 1 0.000199681 . . . . . . intronic . . . . 2.5 6 123653127 TRDN A G 1 0.000798722 . . . . . . intronic . 0.0047 . 0.0052 0 6 123658671 TRDN T C 58 0.222843 . . . . . . intronic . . . 0.3066 -2.5 6 123658680 TRDN A G 104 0.305511 . . . . . . intronic . . . 0.4180 -2.5 6 123658825 TRDN G T 40 0.29373 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign 0.1911 . intronic . 0.1503 0.1684 0.1899 -2.5 6 123673628 TRDN C T 11 0.00898562 . . . . 0.0404 . UTR3\x3bUTR3 . 0.0399 0.0417 0.0465 -2.5 6 123673672 TRDN A AT 1 0.00179712 . MedGen:CN169374 not_specified Uncertain_significance 0.0003 stoploss\x3bstoploss exonic\x3bexonic . 0.0006 0.0004 0.0004 0 6 123687288 TRDN A C 202 0.939297 0.489 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign 0.9106 nonsynonymous_SNV exonic T 0.9156 0.9089 0.9157 -0.5 6 123687318 TRDN C T 1 0.000399361 2.244 . . . 3.063e-05 nonsynonymous_SNV exonic T . 2.69e-05 0.0001 4.5 6 123687432 TRDN T C 202 0.954473 . . . . . . intronic . . . 0.9155 -2.5 6 123696766 TRDN G T 32 0.147364 0.783 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1474 nonsynonymous_SNV exonic T 0.1188 0.1186 0.1296 2.5 6 123698748 TRDN A G 1 0.000199681 . . . . . . intronic . . . . 2.5 6 123699019 TRDN A C 23 0.169129 2.548 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1831 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T 0.1454 0.1525 0.1686 0.5 6 123699042 TRDN T C 91 0.272165 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4311 synonymous_SNV exonic . 0.3635 0.3904 0.3618 -2.5 6 123702499 TRDN G A 64 0.476238 . MedGen:CN169374 not_specified Benign 0.3708 . intronic . 0.3270 0.3220 0.3635 0.5 6 123702587 TRDN G A 1 0.00199681 . . . . . . intronic . 0.0026 . 0.0098 0 6 123702642 TRDN T G 32 0.120807 . . . . . . intronic . . . 0.1308 0.5 6 123703168 TRDN C T 32 0.120807 . . . . . . intronic . . . 0.1302 -2.5 6 123714764 TRDN C T 13 0.0163738 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0819 . intronic . 0.0483 0.0498 0.0479 -2.5 6 123714938 TRDN C T 1 0.00399361 . . . . . . intronic . . . 0 0 6 123818365 TRDN T C 1 0.000199681 0.195 . . . . nonsynonymous_SNV exonic T . 0 0 4.5 6 123833457 TRDN G C 178 0.843251 -0.289 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign 0.8300 nonsynonymous_SNV exonic T 0.8615 0.8470 0.8672 -0.5 6 123837214 TRDN C A 1 0.000199681 . . . . . . intronic . . . . 2.5 6 123837416 TRDN G A 2 0.00279553 . . . . . . intronic . . . 6.682e-05 0 6 123851590 TRDN G A 133 0.497804 . . . . . . intronic . . . 0.6416 -2.5 6 123851610 TRDN G A 133 0.497404 . . . . 0.6181 . intronic . . 0.6339 0.6409 -2.5 6 123851757 TRDN A C 1 0.000199681 . . . . 0.0001 . intronic . . 3.188e-05 . 2.5 6 123868506 TRDN C T 4 0.00279553 4.510 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign 0.0134 nonsynonymous_SNV exonic T 0.0099 0.0117 0.0138 -0.5 6 123869607 TRDN G C 114 0.392971 -0.436 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign 0.5608 nonsynonymous_SNV exonic T 0.5375 0.5166 0.5242 -0.5 6 123869615 TRDN G A 1 0.000399361 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0002 synonymous_SNV exonic . 0.0002 0.0003 0.0003 2.5 6 123869769 TRDN TAA T 123 0.500599 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign 0.5243 . intronic . . 0.4867 0.5595 -2.5 6 123892001 TRDN G A 78 0.495807 . . . . . . intronic . . . 0.3962 -2.5 6 123892044 TRDN A G 23 0.0467252 . . . . 0.0944 . intronic . 0.0938 0.0900 0.0779 -2.5 6 123892337 TRDN G A 90 0.24361 . . . . . . intronic . . . 0.3328 -2.5 6 123957876 TRDN C T 1 0.000199681 . . . . 7.529e-05 . intronic . . 9.934e-05 6.676e-05 2.5 6 129371106 LAMA2 C T 40 0.0706869 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.1232 synonymous_SNV exonic . 0.1164 0.1162 0.1159 -2.5 6 129381026 LAMA2 C A 208 0.936701 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.9705 synonymous_SNV exonic . 0.9699 0.9694 0.9723 -2.5 6 129419454 LAMA2 C T 1 0.000399361 4.755 . . . 8.993e-05 nonsynonymous_SNV exonic T . 8.956e-05 6.662e-05 4.5 6 129419609 LAMA2 G A 1 0.00159744 . . . . 0.0043 . intronic . 0.0066 0.0044 0.0056 0 6 129465020 LAMA2 G A 34 0.247404 . MedGen:CN169374 not_specified Benign 0.2016 . intronic . 0.1932 0.1890 0.1876 -2.5 6 129468288 LAMA2 A T 34 0.352236 . . . . . . intronic . . . 0.1899 -2.5 6 129486657 LAMA2 C A 1 0.00219649 . . . . . . intronic . . . 0.0093 0 6 129486815 LAMA2 G A 1 0.000199681 0.655 . . . 0.0001 nonsynonymous_SNV exonic T . 0.0001 . 4.5 6 129511373 LAMA2 T C 4 0.0565096 . MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0132 synonymous_SNV exonic . 0.0112 0.0120 0.0087 -2.5 6 129513850 LAMA2 T A 1 0.00159744 5.154 MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|not_provided Benign/Likely_benign 0.0043 nonsynonymous_SNV exonic T 0.0070 0.0044 0.0056 2 6 129514008 LAMA2 C T 1 0.000199681 . MedGen:CN169374|MedGen:CN239326 not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Uncertain_significance 0.0012 . intronic . 0.0005 0.0011 0.0043 0 6 129571330 LAMA2 G A 27 0.270966 -0.271 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.1346 nonsynonymous_SNV exonic T 0.14 0.1358 0.1374 -0.5 6 129601231 LAMA2 C T 1 0.00319489 5.122 MedGen:CN117977|MedGen:CN169374|MedGen:CN239326|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided Conflicting_interpretations_of_pathogenicity 0.0062 nonsynonymous_SNV exonic T 0.0064 0.0060 0.0076 2 6 129609026 LAMA2 C T 1 0.000199681 6.647 . . . 0 nonsynonymous_SNV exonic T . 1.791e-05 . 4.5 6 129609237 LAMA2 T C 1 0.0341454 . MedGen:CN169374 not_specified Benign 0.0007 . intronic . 0.0008 0.0007 0.0007 -2.5 6 129612765 LAMA2 G T 1 0.0463259 2.558 MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0009 nonsynonymous_SNV exonic T 0.0010 0.0009 0.0007 -0.5 6 129612808 LAMA2 A G 48 0.313898 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.2253 synonymous_SNV exonic . 0.2272 0.2253 0.2232 -2.5 6 129618791 LAMA2 T C 4 0.00359425 . MedGen:CN169374 not_specified Likely_benign 0.0169 . intronic . 0.0156 0.0164 0.0159 -2.5 6 129618905 LAMA2 G A 1 0.000199681 6.101 MedGen:CN169374 not_specified Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 0.0002 0.0003 4.5 6 129619059 LAMA2 G A 13 0.182508 . MedGen:CN169374 not_specified Benign 0.0843 . intronic . 0.0769 0.0800 0.0776 -2.5 6 129621840 LAMA2 T A 1 0.000199681 . . . . 1.5e-05 . intronic . . 8.962e-06 . 2.5 6 129622055 LAMA2 A G 111 0.303714 . MedGen:CN169374 not_specified Benign 0.4653 . intronic . 0.4524 0.4559 0.4500 -2.5 6 129633970 LAMA2 TTG T 14 0.170128 . MedGen:CN169374 not_specified Benign 0.0834 . intronic . 0.0774 0.0778 0.0779 -2.5 6 129634255 LAMA2 G A 20 0.355232 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.1228 . intronic . 0.1241 0.1228 0.1187 -2.5 6 129635800 LAMA2 G A 7 0.120008 2.722 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0415 nonsynonymous_SNV exonic T 0.0469 0.0427 0.0398 -0.5 6 129636606 LAMA2 T G 1 0.0081869 . MedGen:CN169374|MedGen:CN239326 not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Conflicting_interpretations_of_pathogenicity 0.0083 . intronic . 0.005 0.0071 0.0053 0 6 129637037 LAMA2 G A 1 0.000199681 4.218 . . . 2.997e-05 nonsynonymous_SNV exonic T . 1.791e-05 . 4.5 6 129663463 LAMA2 ACTT A 6 0.00579073 . MedGen:CN169374 not_specified Uncertain_significance 0.0124 . intronic . 0.0143 0.0128 0.0153 -2.5 6 129670438 LAMA2 T A 1 0.00279553 . MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|not_provided Benign/Likely_benign 0.0083 . intronic . 0.0098 0.0083 0.0081 0 6 129670476 LAMA2 C T 1 0.00299521 . MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign 0.0081 synonymous_SNV exonic . 0.0095 0.0081 0.0079 0 6 129670493 LAMA2 C T 3 0.00279553 5.746 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374 Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified Conflicting_interpretations_of_pathogenicity 0.0051 nonsynonymous_SNV exonic T 0.0044 0.0042 0.0027 2 6 129670548 LAMA2 C T 13 0.0970447 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374 Merosin_deficient_congenital_muscular_dystrophy|not_specified Benign 0.0632 . intronic . 0.0613 0.0605 0.0544 -2.5 6 129674561 LAMA2 TC T 13 0.116813 . . . . . . intronic . . . 0.0526 -2.5 6 129687396 LAMA2 G A 4 0.0101837 2.753 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign 0.0290 nonsynonymous_SNV exonic T 0.0330 0.0301 0.0282 -0.5 6 129691132 LAMA2 C G 13 0.0966454 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0631 synonymous_SNV exonic . 0.0615 0.0602 0.0541 -2.5 6 129704460 LAMA2 C G 1 0.000399361 . . . . . . intronic . . . 6.665e-05 2.5 6 129722389 LAMA2 A G 99 0.544529 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.4678 synonymous_SNV exonic . 0.4653 0.4610 0.4523 -2.5 6 129722425 LAMA2 G A 99 0.543331 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.4658 synonymous_SNV exonic . 0.4641 0.4592 0.4496 -2.5 6 129722453 LAMA2 C A 1 0.00499201 2.879 Human_Phenotype_Ontology:HP:0002126,MedGen:C0266464,Orphanet:ORPHA35981|MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Polymicrogyria|Laminin_alpha_2-related_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0171 nonsynonymous_SNV exonic T 0.0171 0.0184 0.0162 -0.5 6 129722481 LAMA2 T G 1 0.000199681 3.035 MedGen:CN117977|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|Congenital_Muscular_Dystrophy,_LAMA2-related Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0005 0.0002 0.0001 2 6 129724942 LAMA2 T A 96 0.539936 . MedGen:CN169374 not_specified Benign 0.4558 . intronic . 0.1772 0.4495 0.4399 -2.5 6 129724944 LAMA2 C T 96 0.540735 . . . . 0.4560 . intronic . 0.0005 0.4497 0.4399 -2.5 6 129724945 LAMA2 T G 96 0.540735 . . . . 0.4559 . intronic . 0.0049 0.4496 0.4397 -2.5 6 129748836 LAMA2 G A 3 0.00359425 . . . . . . intronic . . . 0.0099 0 6 129749070 LAMA2 T C 1 0.000199681 . . . . . . intronic . . . . 2.5 6 129759802 LAMA2 C A 1 0.000199681 0.259 . . . 4.55e-05 nonsynonymous_SNV exonic T 0.0001 2.705e-05 . 4.5 6 129762036 LAMA2 A G 3 0.00119808 -0.014 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|not_provided Uncertain_significance 0.0013 nonsynonymous_SNV exonic T 0.0014 0.0015 0.0011 2 6 129762062 LAMA2 G A 1 0.000399361 2.360 . . . 1.501e-05 nonsynonymous_SNV exonic T . 8.997e-06 . 4.5 6 129762112 LAMA2 G A 30 0.182508 . MedGen:CN169374|MedGen:CN239326 not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.1514 synonymous_SNV exonic . 0.1457 0.1544 0.1698 -2.5 6 129763248 LAMA2 G T 1 0.000199681 . . . . . . intronic . . . 6.673e-05 2.5 6 129774077 LAMA2 C T 2 0.000399361 . . . . . . intronic . . . . 2.5 6 129775470 LAMA2 T C 28 0.172324 . MedGen:CN169374 not_specified Benign 0.1434 . intronic . 0.1206 0.1333 0.1361 -2.5 6 129781525 LAMA2 A T 3 0.00658946 . . . . . . intronic . . . 0.0157 -2.5 6 129785391 LAMA2 T C 123 0.660942 . MedGen:CN169374 not_specified Benign 0.5793 . intronic . 0.5763 0.5776 0.5721 -2.5 6 129796620 LAMA2 C T 97 0.408347 . . . . . . intronic . 0.4104 . 0.3859 -2.5 6 129807629 LAMA2 C T 160 0.583866 7.378 MedGen:CN169374 not_specified Benign 0.7148 nonsynonymous_SNV exonic D 0.7265 0.7167 0.7152 1.5 6 129807697 LAMA2 G A 1 0.000199681 5.529 . . . 2.999e-05 nonsynonymous_SNV exonic T 0.0001 8.978e-06 0 4.5 6 129807699 LAMA2 G C 160 0.584265 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.7149 synonymous_SNV exonic . 0.7266 0.7169 0.7153 -2.5 6 129807714 LAMA2 G A 46 0.403754 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.2597 synonymous_SNV exonic . 0.2488 0.2591 0.2609 -2.5 6 129813043 LAMA2 C T 1 0.000199681 . . . . 3.632e-05 . intronic . . 3.608e-05 0 2.5 6 129813053 LAMA2 A G 10 0.111621 2.164 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0759 nonsynonymous_SNV exonic T 0.0630 0.0674 0.0676 -0.5 6 129813175 LAMA2 T C 1 0.0185703 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0138 synonymous_SNV exonic . 0.0130 0.0144 0.0123 -2.5 6 129813288 LAMA2 A G 1 0.000399361 . . . . . . intronic . . . . 2.5 6 129813429 LAMA2 T TA 5 0.0129792 . . . . 0.0211 . intronic . 0.0208 0.0222 0.0264 -2.5 6 129813697 LAMA2 G C 1 0.000199681 . . . . . . intronic . . . . 2.5 6 129823857 LAMA2 C T 1 0.000199681 . MedGen:CN117977 Laminin_alpha_2-related_dystrophy Likely_benign 0.0003 synonymous_SNV exonic . 0.0003 0.0003 0.0003 2.5 6 129826335 LAMA2 T C 1 0.00359425 . MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign 0.0135 . intronic . 0.0127 0.0139 0.0123 -2.5 6 129826383 LAMA2 T C 1 0.000798722 . MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Conflicting_interpretations_of_pathogenicity 0.0010 synonymous_SNV exonic . 0.0006 0.0011 0.0005 0 6 129826488 LAMA2 A G 1 0.0179712 . MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0001 synonymous_SNV exonic . 0.0005 0.0001 0.0001 -2.5 6 129835530 LAMA2 G C 1 0.000399361 3.224 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0001 6.666e-05 4.5 6 129835690 LAMA2 C A 1 0.000199681 2.437 . . . 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0002 0.0003 4.5 6 129837320 LAMA2 C A 7 0.0091853 . MedGen:CN169374 not_specified Benign 0.0355 . intronic . 0.0415 0.0361 0.0334 -2.5 6 129837549 LAMA2 A C 1 0.0509185 . MedGen:CN239326 Congenital_Muscular_Dystrophy,_LAMA2-related Likely_benign . . UTR3 . . . 0.0045 -2.5 6 133596051 EYA4 A G 1 0.000599042 . . . . . . intronic . . . 0 4 6 133703698 EYA4 T C 3 0.0922524 . . . . . . intronic . . . 0.0015 1.5 6 133777690 EYA4 G A 2 0.000399361 . . . . 7.493e-05 . intronic . . 7.174e-05 6.665e-05 6.5 6 133777842 EYA4 C G 1 0.000199681 . . . . . . intronic . . . 0.0001 6.5 6 133782375 EYA4 T A 10 0.201278 . . . . . . intronic . 0.0669 . 0.0603 1.5 6 133789728 EYA4 G A 73 0.409545 5.411 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Benign/Likely_benign 0.3197 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T 0.3128 0.3223 0.3103 1.5 6 133789737 EYA4 C A 1 0.000199681 6.665 . . . 7.501e-05 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D 0.0001 6.293e-05 . 6.5 6 133802542 EYA4 G A 23 0.0283546 . . . . . . intronic . . . 0.0789 1.5 6 133802711 EYA4 T C 1 0.000199681 4.879 . . . . nonsynonymous_SNV exonic D . . . 8.5 6 133827354 TARID A G 136 0.722244 . . . . 0.5672 . ncRNA_exonic . 0.5607 0.5633 0.5620 -2.5 6 133833915 EYA4 A G 1 0.000199681 . MedGen:CN239310|MedGen:CN239435 Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Uncertain_significance 2.997e-05 synonymous_SNV exonic . 0.0001 5.375e-05 0.0003 6.5 6 133836430 TARID G A 6 0.00539137 . . . . 0.0165 . ncRNA_intronic . 0.0164 0.0174 0.0140 -2.5 6 133844137 TARID C A 28 0.154752 . . . . . . ncRNA_intronic . . . 0.1403 3.5 6 133844339 TARID G C 1 0.0373403 . . . . 0.0004 . ncRNA_intronic . 0.0012 0.0004 0.0006 -2.5 6 133849789 TARID A G 129 0.770367 . . . . . . ncRNA_intronic . . . 0.5453 -2.5 6 133849868 EYA4 C T 4 0.0081869 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Dilated_cardiomyopathy_1J|not_specified|Cardiovascular_phenotype Benign 0.0143 synonymous_SNV exonic . 0.0128 0.0124 0.0107 2.125 6 133849966 TARID C T 95 0.471046 . MedGen:CN239310|MedGen:CN239435 Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Likely_benign 0.3777 . ncRNA_intronic . 0.3865 0.3807 0.3957 -2.5 6 152443744 SYNE1 G T 25 0.076877 4.671 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1516 nonsynonymous_SNV exonic T 0.1398 0.1501 0.1644 3.5 6 152443761 SYNE1 C T 6 0.0648962 1.625 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0386 nonsynonymous_SNV exonic T 0.0335 0.0350 0.0438 3.5 6 152453291 SYNE1 G A 15 0.0257588 1.797 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0739 nonsynonymous_SNV exonic T 0.0745 0.0769 0.0768 3.5 6 152456437 SYNE1 A C 1 0.00119808 . . . . . . intronic . . . . 4 6 152456438 SYNE1 A C 2 0.00599042 . . . . . . intronic . . . 0.0135 1.5 6 152457897 SYNE1 G A 1 0.000199681 . MedGen:CN169374 not_specified Uncertain_significance 3e-05 synonymous_SNV exonic . . 8.954e-06 . 6.5 6 152461061 SYNE1 G A 99 0.444489 . MedGen:CN169374 not_specified Benign 0.3754 . intronic . 0.3941 0.3786 0.3605 1.5 6 152461162 SYNE1 C T 1 0.000798722 4.590 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0007 nonsynonymous_SNV exonic T 0.0013 0.0008 0.0006 6 6 152462480 SYNE1 C A 6 0.00559105 . MedGen:CN169374 not_specified Benign 0.0096 . intronic . 0.0097 0.0091 0.0057 5 6 152462524 SYNE1 C T 1 0.0303514 . . . . . . intronic . . . 0.0001 1.5 6 152464839 SYNE1 A G 123 0.689696 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.5481 synonymous_SNV exonic . 0.5564 0.5516 0.5468 1.5 6 152466578 SYNE1 A C 2 0.0567093 . MedGen:CN169374 not_specified Likely_benign 0.0066 . intronic . 0.0051 0.0049 0.0089 1.5 6 152466582 SYNE1 A G 79 0.381589 . MedGen:CN169374 not_specified Benign 0.3237 . intronic . 0.3359 0.3244 0.3152 1.5 6 152466674 SYNE1 T C 79 0.366214 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.3171 synonymous_SNV exonic . 0.3301 0.3201 0.3112 1.5 6 152469188 SYNE1 C G 81 0.399361 0.755 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.3230 nonsynonymous_SNV exonic T 0.3373 0.3248 0.3163 3.5 6 152469204 SYNE1 G A 2 0.00219649 2.924 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0071 nonsynonymous_SNV exonic T 0.0056 0.0069 0.0090 6 6 152469331 SYNE1 C T 66 0.339457 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.2768 synonymous_SNV exonic . 0.2944 0.2810 0.2778 1.5 6 152469354 SYNE1 C T 1 0.000199681 6.962 . . . 6.012e-05 nonsynonymous_SNV exonic T . 5.387e-05 6.671e-05 8.5 6 152469433 SYNE1 G C 1 0.000199681 -1.526 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0011 nonsynonymous_SNV exonic T 0.0006 0.0013 0.0004 6 6 152470752 SYNE1 C A 22 0.115615 2.796 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0561 nonsynonymous_SNV exonic T 0.0548 0.0534 0.0441 3.5 6 152472631 MIR3163 A G 13 0.024361 . . . . . . ncRNA_intronic . . . 0.0353 -2.5 6 152472660 MIR3163 T A 14 0.0317492 . MedGen:CN169374 not_specified Benign 0.0469 . ncRNA_intronic . 0.0434 0.0434 0.0385 -2.5 6 152473136 SYNE1 G T 1 0.000199681 5.447 . . . . nonsynonymous_SNV exonic T . . . 8.5 6 152473181 SYNE1 T C 14 0.0365415 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0470 synonymous_SNV exonic . 0.0441 0.0439 0.0386 1.5 6 152476985 MIR3163 T G 5 0.057508 . . . . . . ncRNA_intronic . . . . -2.5 6 152497500 MIR3163 C T 12 0.0225639 . MedGen:CN169374 not_specified Benign 0.0593 . ncRNA_intronic . 0.0597 0.0615 0.0571 -2.5 6 152501313 SYNE1 A G 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 6 152510429 SYNE1 G A 1 0.00119808 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Likely_benign 0.0022 synonymous_SNV exonic . 0.0023 0.0019 0.0015 4 6 152510573 MIR3163 G A 1 0.0680911 . . . . 0.0100 . ncRNA_intronic . 0.0085 0.0085 0.0085 -2.5 6 152522926 MIR3163 G A 47 0.134585 . MedGen:CN169374 not_specified Benign 0.1721 . ncRNA_intronic . 0.1767 0.1719 0.1761 -2.5 6 152523143 MIR3163 G A 141 0.645567 . . . . . . ncRNA_intronic . . . 0.5851 -2.5 6 152529122 SYNE1 G A 3 0.00339457 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0170 synonymous_SNV exonic . 0.0177 0.0177 0.0191 1.5 6 152529260 SYNE1 G A 29 0.155152 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1315 synonymous_SNV exonic . 0.1341 0.1321 0.1210 1.5 6 152532702 SYNE1 T C 4 0.00459265 6.017 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0205 nonsynonymous_SNV exonic T 0.0171 0.0195 0.0139 3.5 6 152534768 SYNE1 C T 5 0.0205671 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0328 synonymous_SNV exonic . 0.0271 0.0320 0.0266 1.5 6 152534789 SYNE1 T C 6 0.0135783 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign 0.0347 synonymous_SNV exonic . 0.0302 0.0339 0.0432 1.5 6 152534946 MIR3163 T A 214 0.997005 . . . . 0.9903 . ncRNA_intronic . 0.9890 0.9895 0.9895 -2.5 6 152534947 MIR3163 T A 83 0.307508 . . . . . . ncRNA_intronic . . . 0.4554 -2.5 6 152539350 MIR3163 C G 33 0.279153 . MedGen:CN169374 not_specified Benign 0.2177 . ncRNA_intronic . 0.2219 0.2111 0.2283 -2.5 6 152539515 SYNE1 G A 1 0.000599042 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0012 synonymous_SNV exonic . 0.0019 0.0015 0.0009 4 6 152539572 MIR3163 TA TAA,T 1 0.404952 . . . . 0.4495 . ncRNA_intronic . . 0.4266 0.4470 -2.5 6 152540230 SYNE1 C T 1 0.000199681 3.652 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Conflicting_interpretations_of_pathogenicity 0.0001 nonsynonymous_SNV exonic T 0.0001 0.0001 6.662e-05 8.5 6 152540278 SYNE1 A C 211 0.995607 -0.224 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign 0.9886 nonsynonymous_SNV exonic T 0.9901 0.9878 0.9892 3.5 6 152540357 MIR3163 T C 25 0.0696885 . . . . 0.0901 . ncRNA_intronic . 0.0913 0.0908 0.0813 -2.5 6 152542234 MIR3163 G T 62 0.389377 . . . . . . ncRNA_intronic . . . 0.3177 -2.5 6 152542548 MIR3163 A G 34 0.337859 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.2204 . ncRNA_intronic . 0.2248 0.2135 0.2303 -2.5 6 152545600 MIR3163 G A 5 0.00758786 . . . . 0.0259 . ncRNA_intronic . 0.0241 0.0276 0.0261 -2.5 6 152545865 MIR3163 T C 43 0.124002 . . . . . . ncRNA_intronic . . . 0.1967 -2.5 6 152555057 SYNE1 T A 3 0.00978435 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0259 synonymous_SNV exonic . 0.0259 0.0249 0.0260 1.5 6 152555112 SYNE1 C T 35 0.208866 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.2231 . intronic . 0.2167 0.2160 0.2297 1.5 6 152555762 SYNE1 C T 1 0.000599042 . . . . 0.0008 . intronic . 0.0005 0.0010 0.0009 4 6 152557178 SYNE1 G C 1 0.000798722 . . . . . . intronic . . . 0.0041 4 6 152557220 SYNE1 T C 1 0.00239617 . . . . 0.0090 . intronic . 0.0098 0.0092 0.0100 4 6 152558111 SYNE1 T TA 35 0.210264 . MedGen:CN169374 not_specified Likely_benign 0.2220 . intronic . 0.2170 0.2156 0.2290 1.5 6 152563312 SYNE1 T C 4 0.00519169 . . . . . . intronic . . . 0.0066 5 6 152565669 SYNE1 C T 2 0.00439297 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Abnormality_of_brain_morphology|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0007 . intronic . 0.0007 0.0008 0.0005 4 6 152570274 SYNE1 A G 19 0.0607029 . . . . 0.0782 . intronic . 0.0780 0.0786 0.0692 1.5 6 152570415 SYNE1 G A 109 0.680711 . MedGen:CN169374 not_specified Benign 0.6208 . intronic . 0.6098 0.6133 0.6467 1.5 6 152577752 SYNE1 T C 9 0.0764776 . MedGen:CN169374 not_specified Benign 0.0622 . intronic . 0.0598 0.0592 0.0500 1.5 6 152589378 SYNE1 A C 1 0.000199681 . . . . . . intronic . . . . 6.5 6 152590434 SYNE1 A G 1 0.000798722 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Likely_benign 0.0019 . intronic . 0.0015 0.0016 0.0025 4 6 152599173 SYNE1 C T 2 0.00439297 . . . . 0.0073 . intronic . 0.0040 0.0064 0.0074 4 6 152603139 SYNE1 T C 11 0.0722843 . MedGen:CN169374 not_specified Benign 0.0665 . intronic . 0.0645 0.0636 0.0621 1.5 6 152605242 SYNE1 C T 1 0.000199681 . . . . 2.999e-05 synonymous_SNV exonic . . 1.794e-05 6.662e-05 6.5 6 152614766 SYNE1 G C 1 0.000199681 1.546 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.96e-06 . 8.5 6 152615042 SYNE1 G T 5 0.0473243 . . . . . . intronic . . . 0.0550 1.5 6 152615200 SYNE1 G A 41 0.147764 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1932 synonymous_SNV exonic . 0.1917 0.1932 0.1927 1.5 6 152621818 SYNE1 G A 2 0.000399361 . MedGen:CN169374 not_specified Uncertain_significance 0.0006 synonymous_SNV exonic . 0.0010 0.0007 0.0008 4 6 152621955 SYNE1 A G 2 0.00379393 . . . . 0.0109 . intronic . 0.0126 0.0109 0.0124 1.5 6 152623056 SYNE1 T A 1 0.000199681 5.841 . . . 1.507e-05 nonsynonymous_SNV exonic T . 8.961e-06 . 8.5 6 152629586 SYNE1 G A 116 0.457468 . MedGen:CN169374 not_specified Benign 0.5309 . intronic\x3bintronic . 0.5247 0.5339 0.5535 1.5 6 152629617 SYNE1 C T 73 0.304313 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.3227 . intronic\x3bintronic . 0.3235 0.3209 0.3338 1.5 6 152629631 SYNE1 C T 2 0.038139 6.154 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0080 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T 0.0071 0.0066 0.0075 1.5 6 152629772 SYNE1 GAA GAAA,GA,G 2 0.014377 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign 0.0271 . intronic\x3bintronic . . 0.0205 0.0128 1.5 6 152629815 SYNE1 C T 178 0.884784 . . . . 0.8021 . intronic\x3bintronic . 0.7880 0.7998 0.8174 1.5 6 152630946 SYNE1 C T 25 0.117612 . MedGen:CN169374 not_specified Benign 0.1005 . intronic\x3bintronic . 0.0981 0.0954 0.0928 1.5 6 152631802 SYNE1 C CT 3 0.00678914 . . . . 0.0228 . intronic . 0.0168 0.0189 0.0099 1.5 6 152632033 SYNE1 G A 2 0.0443291 . MedGen:CN169374 not_specified Benign 0.0283 . intronic . 0.0235 0.0255 0.0316 1.5 6 152638192 SYNE1 C T 4 0.00539137 . . . . . . intronic . . . 0.0119 1.5 6 152639184 SYNE1 C G 8 0.0864617 . MedGen:CN169374 not_specified Benign 0.0390 . intronic . 0.0463 0.0404 0.0377 1.5 6 152639350 SYNE1 C T 1 0.000199681 6.336 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.958e-06 0 8.5 6 152640091 SYNE1 C T 1 0.000399361 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0004 synonymous_SNV exonic . 0.0006 0.0004 0.0002 4 6 152640110 SYNE1 G A 5 0.0463259 2.539 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign 0.0289 nonsynonymous_SNV exonic T 0.0272 0.0292 0.0336 3.5 6 152640160 SYNE1 T A 1 0.000199681 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy Likely_benign 4.641e-05 . intronic . . 4.485e-05 . 6.5 6 152642331 SYNE1 T C 1 0.000199681 . . . . . . intronic . . . . 6.5 6 152642795 SYNE1 T C 1 0.000199681 . . . . . . intronic . . . . 6.5 6 152643070 SYNE1 C T 9 0.0107827 . MedGen:CN169374 not_specified Likely_benign 0.0366 . intronic . 0.0409 0.0391 0.0350 1.5 6 152646279 SYNE1 G C 7 0.0623003 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign 0.0298 synonymous_SNV exonic . 0.0280 0.0305 0.0334 1.5 6 152647388 SYNE1 A G 1 0.000199681 . . . . 3e-05 . intronic . . 2.691e-05 . 6.5 6 152647681 SYNE1 A T 156 0.814696 1.978 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.7581 nonsynonymous_SNV exonic T 0.7494 0.7562 0.7754 3.5 6 152650812 SYNE1 G A 6 0.0115815 . . . . . . intronic . . . 0.0321 1.5 6 152650903 SYNE1 G A 7 0.033746 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0386 synonymous_SNV exonic . 0.0436 0.0396 0.0382 1.5 6 152651521 SYNE1 C T 1 0.000199681 4.083 . . . 1.498e-05 nonsynonymous_SNV exonic T . 8.952e-06 . 8.5 6 152651759 SYNE1 C G 18 0.165136 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0592 synonymous_SNV exonic . 0.0621 0.0600 0.0639 1.5 6 152652034 SYNE1 A T 156 0.803315 -5.477 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.7577 nonsynonymous_SNV exonic T 0.7490 0.7561 0.7745 3.5 6 152652599 SYNE1 G A 7 0.0335463 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0388 synonymous_SNV exonic . 0.0437 0.0397 0.0385 1.5 6 152653037 SYNE1 T C 93 0.413139 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.4696 . intronic . 0.4607 0.4617 0.4722 1.5 6 152658062 SYNE1 C G 2 0.0123802 6.665 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0358 nonsynonymous_SNV exonic T 0.0326 0.0357 0.0318 3.5 6 152658141 SYNE1 C A 13 0.0876597 2.991 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0738 nonsynonymous_SNV exonic T . 0.0749 0.0693 3.5 6 152658142 SYNE1 T C 154 0.793131 0.371 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.7478 nonsynonymous_SNV exonic T 0.7194 0.7459 0.7642 3.5 6 152658191 SYNE1 T C 155 0.790136 . MedGen:CN169374 not_specified Benign 0.7529 . intronic . 0.7401 0.7471 0.7640 1.5 6 152658192 SYNE1 G A 1 0.000599042 . . . . 0.0002 . intronic . . 0.0002 0 4 6 152658216 SYNE1 A G 82 0.242212 . . . . . . intronic . . . 0.4137 1.5 6 152660310 SYNE1 A G 64 0.157149 . . . . . . intronic . . . 0.3504 1.5 6 152660451 SYNE1 G A 30 0.0732827 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1418 synonymous_SNV exonic . 0.1315 0.1438 0.1464 1.5 6 152665261 SYNE1 C A 129 0.545527 0.235 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6031 nonsynonymous_SNV exonic T 0.6178 0.6078 0.6094 3.5 6 152665303 SYNE1 C T 1 0.0269569 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign 0.0021 synonymous_SNV exonic . 0.0019 0.0010 0.0006 1.5 6 152665374 SYNE1 C A 1 0.00938498 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign 0.0020 . intronic . 0.0013 0.0008 0.0005 4 6 152668211 SYNE1 A G 5 0.00539137 6.385 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0170 nonsynonymous_SNV exonic T 0.0151 0.0161 0.0147 3.5 6 152668215 SYNE1 C T 3 0.00479233 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0133 synonymous_SNV exonic . 0.0130 0.0133 0.0113 1.5 6 152668272 SYNE1 C T 3 0.00239617 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0076 synonymous_SNV exonic . 0.0080 0.0077 0.0079 4 6 152671475 SYNE1 A C 130 0.58746 . MedGen:CN169374 not_specified Benign 0.6003 . intronic . 0.6098 0.6049 0.6074 1.5 6 152671499 SYNE1 A T 1 0.000998403 . . . . 0.0053 . intronic . 0.0043 0.0043 0.0043 4 6 152671865 SYNE1 T G 4 0.0543131 2.231 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign 0.0189 nonsynonymous_SNV exonic T 0.0201 0.0191 0.0181 3.5 6 152671919 SYNE1 G GA 130 0.56889 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.5945 . intronic . . 0.5914 0.6112 1.5 6 152671975 SYNE1 A G 130 0.571286 . . . . . . intronic . . . 0.6067 1.5 6 152673147 SYNE1 G A 130 0.565895 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6003 . intronic . 0.6134 0.6040 0.6083 1.5 6 152673312 SYNE1 C T 1 0.000399361 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0008 synonymous_SNV exonic . 0.0002 0.0008 0.0015 4 6 152673519 SYNE1 A C 130 0.567492 . MedGen:CN169374 not_specified Benign 0.6002 . intronic . 0.6127 0.6036 0.6077 1.5 6 152673543 SYNE1 C CT,CTT 130 0.00838658 . . . . . . intronic . . . 0.0009 6 6 152674464 SYNE1 C A 1 0.00139776 2.840 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0067 nonsynonymous_SNV exonic T 0.0073 0.0077 0.0059 6 6 152674524 SYNE1 T C 1 0.000399361 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0014 synonymous_SNV exonic . 0.0014 0.0015 0.0024 4 6 152675854 SYNE1 A G 130 0.568291 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6001 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.6133 0.6049 0.6074 1.5 6 152679518 SYNE1 C T 6 0.0071885 3.946 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0156 nonsynonymous_SNV exonic T 0.02 0.0165 0.0131 3.5 6 152679594 SYNE1 A G 3 0.00459265 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0159 synonymous_SNV exonic . 0.0176 0.0144 0.0133 1.5 6 152679729 SYNE1 G A 33 0.143371 . . . . . . intronic . . . 0.1691 1.5 6 152683278 SYNE1 A G 1 0.00139776 . . . . 0.0058 . intronic . 0.0052 0.0056 0.0051 4 6 152683413 SYNE1 G T 148 0.659145 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6652 synonymous_SNV exonic . 0.6806 0.6701 0.6773 1.5 6 152686071 SYNE1 A G 2 0.00199681 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0065 synonymous_SNV exonic . 0.0064 0.0062 0.0056 4 6 152686090 SYNE1 G T 2 0.00199681 2.251 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0065 nonsynonymous_SNV exonic T 0.0064 0.0062 0.0057 6 6 152688366 SYNE1 G A 1 0.000199681 0.385 MedGen:CN169374 not_specified Uncertain_significance 0.0002 nonsynonymous_SNV exonic T . 0.0001 0.0001 8.5 6 152688567 SYNE1 C T 192 0.863618 . MedGen:CN169374 not_specified Benign 0.9158 . intronic . 0.9177 0.9217 0.9298 1.5 6 152690559 SYNE1 G A 103 0.410942 . MedGen:CN169374 not_specified Benign 0.5326 . intronic . 0.5455 0.5389 0.5421 1.5 6 152694184 SYNE1 T C 103 0.468251 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.5328 synonymous_SNV exonic . 0.5458 0.5394 0.5421 1.5 6 152694190 SYNE1 T C 1 0.000599042 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0020 synonymous_SNV exonic . 0.0015 0.0016 0.0015 4 6 152697675 SYNE1 G T 2 0.00678914 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0140 synonymous_SNV exonic . 0.0121 0.0128 0.0137 1.5 6 152697706 SYNE1 C T 111 0.529153 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.4739 . intronic . 0.4606 0.4658 0.4662 1.5 6 152702434 SYNE1 C T 1 0.000199681 2.351 . . . 3.007e-05 nonsynonymous_SNV exonic T . 2.753e-05 0 8.5 6 152708310 SYNE1 G A 62 0.249002 0.486 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.2229 nonsynonymous_SNV exonic T 0.2190 0.2241 0.2138 3.5 6 152708366 SYNE1 G C 1 0.000199681 . . . . 2.997e-05 synonymous_SNV exonic . . 1.794e-05 . 6.5 6 152708472 SYNE1 C T 1 0.000199681 1.040 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.97e-06 . 8.5 6 152711395 SYNE1 T A 91 0.561901 . MedGen:CN169374 not_specified Benign 0.3850 . intronic . 0.3801 0.3819 0.3795 1.5 6 152711422 SYNE1 C T 1 0.000199681 4.088 . . . 1.5e-05 nonsynonymous_SNV exonic T . 8.973e-06 . 8.5 6 152711428 SYNE1 C T 1 0.00319489 -0.289 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Benign/Likely_benign 0.0090 nonsynonymous_SNV exonic T 0.0098 0.0085 0.0113 3.5 6 152712440 SYNE1 G T 3 0.00159744 0.895 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0036 nonsynonymous_SNV exonic T 0.0035 0.0039 0.0031 6 6 152712714 SYNE1 G A 32 0.169728 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0012 . intronic . . 0.0046 0.0009 1.5 6 152712715 SYNE1 G A 32 0.169728 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . intronic . . . . 1.5 6 152712730 SYNE1 G A 70 0.406949 . . . . 0.0053 . intronic . . 0.0074 0.0181 1.5 6 152712752 SYNE1 C T 91 0.558706 . MedGen:CN169374 not_specified Benign 0.2545 . intronic . 0.2696 0.3096 0.3741 1.5 6 152717896 SYNE1 T C 8 0.014377 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign 0.0362 . intronic . 0.0336 0.0377 0.0336 1.5 6 152718008 SYNE1 T C 1 0.000199681 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Conflicting_interpretations_of_pathogenicity 0.0009 synonymous_SNV exonic . 0.0006 0.0010 0.0006 4 6 152719792 SYNE1 C A 1 0.000199681 6.234 . . . 2.998e-05 nonsynonymous_SNV exonic T . 1.791e-05 . 8.5 6 152722228 SYNE1 A G 91 0.519768 . MedGen:CN169374 not_specified Benign 0.3863 . intronic . 0.3803 0.3816 0.3792 1.5 6 152725470 SYNE1 TAACTA T 1 0.071885 . . . . 0.0068 . intronic . 0.0035 0.0052 0.0064 1.5 6 152728281 SYNE1 G A 1 0.000199681 . . . . 4.498e-05 synonymous_SNV exonic . . 2.69e-05 . 6.5 6 152730221 SYNE1 G A 1 0.000199681 . . . . 4.496e-05 synonymous_SNV exonic . 0.0001 2.687e-05 . 6.5 6 152730736 SYNE1 A G 2 0.000998403 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Likely_benign 0.0023 synonymous_SNV exonic . 0.0026 0.0024 0.0016 4 6 152737559 SYNE1 G A 1 0.000199681 7.182 . . . 1.498e-05 stopgain exonic . . 1.792e-05 . 11.5 6 152740681 SYNE1 T TA 52 0.35024 . . . . 0.3240 . intronic . 0.2008 0.3715 0.2080 1.5 6 152746593 SYNE1 A T 20 0.0327476 -0.505 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0553 nonsynonymous_SNV exonic T 0.0516 0.0539 0.0622 3.5 6 152749373 SYNE1 G A 1 0.000199681 1.031 MedGen:CN169374 not_specified Uncertain_significance 1.503e-05 nonsynonymous_SNV exonic T 0.0001 8.973e-06 . 8.5 6 152749380 SYNE1 T G 1 0.000199681 . . . . 1.502e-05 synonymous_SNV exonic . . 8.97e-06 . 6.5 6 152749494 SYNE1 C T 1 0.000599042 -0.742 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic T 0.0016 0.0015 0.0015 6 6 152749540 SYNE1 C T 1 0.00239617 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign 0.0077 . intronic . 0.0083 0.0073 0.0097 4 6 152751286 SYNE1 A T 1 0.000199681 . . . . 0.0001 synonymous_SNV exonic . . 0.0001 . 6.5 6 152751300 SYNE1 T C 1 0.000199681 0.241 . . . 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0001 6.674e-05 8.5 6 152751367 SYNE1 A C 1 0.000199681 . . . . 0.0021 . intronic . 0.0010 0.0017 0.0041 4 6 152751398 SYNE1 CA C 5 0.028754 . . . . . . intronic . . . 0.0300 1.5 6 152751426 SYNE1 A C 60 0.252196 . . . . . . intronic . . . 0.2165 1.5 6 152751558 SYNE1 C T 102 0.595847 . . . . . . intronic . . . 0.4107 1.5 6 152757122 SYNE1 A T 1 0.000199681 2.694 . . . . nonsynonymous_SNV exonic D . 8.956e-06 . 8.5 6 152757224 SYNE1 G A 3 0.00239617 6.572 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Likely_benign 0.0041 nonsynonymous_SNV exonic D 0.0057 0.0043 0.0041 8 6 152763191 SYNE1 C T 1 0.00219649 . MedGen:CN169374 not_specified Likely_benign 0.0014 . intronic . 0.0008 0.0012 0.0005 4 6 152763258 SYNE1 T C 8 0.0127796 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0227 synonymous_SNV exonic . 0.0184 0.0203 0.0275 1.5 6 152763413 SYNE1 T C 1 0.000199681 . . . . 1.521e-05 . intronic . . 9.406e-06 . 6.5 6 152765579 SYNE1 C T 4 0.00678914 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0132 synonymous_SNV exonic . 0.0124 0.0135 0.0130 1.5 6 152768796 SYNE1 T G 108 0.597644 . MedGen:CN169374 not_specified Benign 0.4364 . intronic . 0.4338 0.4303 0.4282 1.5 6 152770645 SYNE1 G A 14 0.0185703 . . . . 0.0360 . intronic . 0.0345 0.0326 0.0394 1.5 6 152771749 SYNE1 T C 1 0.000199681 . . . . . . intronic . . . . 6.5 6 152771789 SYNE1 G T 1 0.000199681 4.036 . . . 1.498e-05 nonsynonymous_SNV exonic T . 8.958e-06 . 8.5 6 152771849 SYNE1 G A 26 0.048722 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0687 synonymous_SNV exonic . 0.0680 0.0663 0.0729 1.5 6 152772239 SYNE1 A C 1 0.000199681 -0.914 . . . . nonsynonymous_SNV exonic T . . . 8.5 6 152772264 SYNE1 A G 108 0.607228 3.767 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.4291 nonsynonymous_SNV exonic D 0.4295 0.4232 0.4198 3.5 6 152774695 SYNE1 G A 1 0.000199681 0.117 . . . 4.502e-05 . intronic T 0.0001 3.581e-05 6.66e-05 6.5 6 152774917 SYNE1 A G 108 0.607428 . . . . . . intronic . . . 0.4204 1.5 6 152776540 SYNE1 T C 6 0.0061901 . . . . 0.0144 . intronic . 0.0134 0.0131 0.0095 1.5 6 152776750 SYNE1 G A 53 0.301518 . MedGen:CN169374 not_specified Benign 0.2402 . intronic . 0.2298 0.2380 0.2265 1.5 6 152777095 SYNE1 A C 26 0.0433307 0.696 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0687 nonsynonymous_SNV exonic T 0.0679 0.0664 0.0734 3.5 6 152777200 SYNE1 A G 2 0.00339457 . . . . 0.0090 . intronic . 0.0070 0.0087 0.0079 4 6 152777236 SYNE1 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 6 152779932 SYNE1 C T 1 0.000399361 1.805 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant Uncertain_significance 4.499e-05 nonsynonymous_SNV exonic T . 3.59e-05 6.664e-05 8.5 6 152779933 SYNE1 G A 8 0.0115815 4.640 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0333 nonsynonymous_SNV exonic T 0.0312 0.0339 0.0313 3.5 6 152782933 SYNE1 G A 108 0.602436 . . . . . . intronic . . . 0.4207 1.5 6 152784054 SYNE1 G A 29 0.248802 . MedGen:CN169374 not_specified Likely_benign 0.1199 . intronic . 0.1307 0.1179 0.1178 1.5 6 152784075 SYNE1 C T 29 0.248802 . MedGen:CN169374 not_specified Likely_benign 0.1198 . intronic . 0.1305 0.1178 0.1178 1.5 6 152784621 SYNE1 T C 1 0.00399361 4.526 . . . 0.0085 nonsynonymous_SNV exonic T 0.0080 0.0078 0.0087 6 6 152787026 SYNE1 G A 2 0.00119808 . . . . . . intronic . . . 0.0019 4 6 152793375 SYNE1 TA T 25 0.195487 . . . . . . intronic . . . 0.1112 1.5 6 152793412 SYNE1 C A 168 0.855232 . MedGen:CN169374 not_specified Benign 0.7166 . intronic . 0.7044 0.7070 0.7065 1.5 6 152793572 SYNE1 T A 82 0.483427 . MedGen:CN169374 not_specified Benign 0.3388 . intronic . 0.0162 0.3152 0.3368 1.5 6 152793575 SYNE1 A G 108 0.602236 . MedGen:CN169374 not_specified Benign 0.4256 . intronic . 0.1459 0.4045 0.4136 1.5 6 152793628 SYNE1 C T 14 0.028754 . . . . . . intronic . . . 0.0394 1.5 6 152806014 SYNE1 C T 2 0.00199681 6.660 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Likely_benign 0.0015 nonsynonymous_SNV exonic D 0.0010 0.0017 0.0008 8 6 152809527 SYNE1 A T 108 0.589257 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.4370 . intronic . 0.4328 0.4257 0.4250 1.5 6 152809540 SYNE1 A G 1 0.000199681 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0009 synonymous_SNV exonic . 0.0010 0.0007 0.0013 4 6 152809699 SYNE1 A C 1 0.000199681 . . . . . . intronic . . . 6.662e-05 6.5 6 152826456 SYNE1 T C 1 0.000199681 3.348 . . . 1.504e-05 nonsynonymous_SNV exonic D . 8.968e-06 . 8.5 6 152831295 SYNE1 G A 1 0.000199681 . . . . 2.999e-05 . intronic . . 4.491e-05 0.0001 6.5 6 152832851 SYNE1 T C 1 0.00279553 . . . . . . intronic . . . 0.0118 1.5 6 152847284 SYNE1 A G 1 0.00279553 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0119 synonymous_SNV exonic . 0.0114 0.0112 0.0117 1.5 6 152847335 SYNE1 G A 74 0.264177 . MedGen:CN169374 not_specified Benign 0.3249 . intronic . 0.3233 0.3243 0.3317 1.5 7 35271037 TBX20 C T 2 0.00339457 . . . . . . intronic . . . 0.0074 0 7 35271254 TBX20 T C 45 0.0888578 . . . . . . intronic . 0.1782 . 0.1482 -2.5 7 35280480 TBX20 T C 1 0.000199681 . . . . 1.515e-05 . intronic . . 8.989e-06 . 2.5 7 35280539 TBX20 G T 1 0.0305511 . MedGen:CN230736 Cardiovascular_phenotype Benign 0.0005 synonymous_SNV exonic . 0.0006 0.0005 0.0008 -2.5 7 35280693 TBX20 C T 85 0.34365 . . . . 0.3824 . intronic . 0.3906 0.3819 0.3926 3.5 7 35288276 TBX20 T C 85 0.34365 . . . . 0.3817 . intronic . 0.3907 0.3819 0.3924 3.5 7 35293158 TBX20 G C 1 0.000199681 6.806 . . . 1.557e-05 nonsynonymous_SNV exonic D . 8.988e-06 . 6.5 7 35293193 TBX20 A G 154 0.69389 . MedGen:C1969657,OMIM:611363|MedGen:CN230736 Atrial_septal_defect_4|Cardiovascular_phenotype Benign 0.6791 synonymous_SNV exonic . 0.6892 0.6824 0.6756 -2.5 7 35293222 TBX20 T A 3 0.000599042 2.411 . . . 0.0003 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0003 2 7 81579832 CACNA2D1 T TA 21 0.0621006 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0992 . intronic . 0.0808 0.0996 0.0856 -2.5 7 81588636 CACNA2D1 G A 64 0.222644 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3047 synonymous_SNV exonic . 0.3153 0.3061 0.3054 -2.5 7 81588738 CACNA2D1 G A 1 0.00139776 . . . . . . intronic . . . 0.0003 0 7 81591114 CACNA2D1 GTAATGATTATAACAGTATATACAATTTCT G 145 0.698682 . . . . . . intronic . . . 0.6872 -2.5 7 81591409 CACNA2D1 G A 8 0.00778754 . . . . . . intronic . . . 0.0224 -2.5 7 81591716 CACNA2D1 T G 66 0.230232 . . . . 0.3482 . intronic . 0.3168 0.3118 0.3041 -2.5 7 81591827 CACNA2D1 A T 1 0.000199681 . . . . 6.505e-05 . intronic . . 6.958e-05 . 2.5 7 81593454 CACNA2D1 G A 56 0.257987 . . . . 0.2096 . intronic\x3bintronic . 0.2076 0.2123 0.1978 -2.5 7 81593508 CACNA2D1 G A 1 0.000199681 . . . . 1.502e-05 . intronic\x3bintronic . . 2.702e-05 6.676e-05 2.5 7 81594860 CACNA2D1 C T 1 0.000399361 . . . . 4.527e-05 . intronic . . 7.237e-05 0 2.5 7 81596639 CACNA2D1 A G 1 0.000199681 . . . . . . intronic . . . . 2.5 7 81598129 CACNA2D1 T C 2 0.00858626 . . . . . . intronic . . . 0.0144 -2.5 7 81599131 CACNA2D1 G A 2 0.000798722 . . . . . . intronic . . . 6.704e-05 0 7 81600168 CACNA2D1 A G 1 0.000199681 . . . . . . intronic . . . . 2.5 7 81601231 CACNA2D1 C G 74 0.236422 . . . . 0.3715 . intronic . 0.3844 0.375 0.3736 -2.5 7 81603871 CACNA2D1 G GAA 28 0.096845 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1140 . intronic . 0.0922 0.0903 0.0838 -2.5 7 81603945 CACNA2D1 AT A 154 0.678514 . . . . . . intronic . . . 0.7265 -2.5 7 81612766 CACNA2D1 T C 1 0.000199681 . . . . . . intronic . . . . 2.5 7 81634681 CACNA2D1 G T 1 0.000199681 . . . . . . intronic . . . . 2.5 7 81634822 CACNA2D1 GA AA,G 1 0.20028 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.3124 . intronic . . 0.2613 0.0468 -2.5 7 81635221 CACNA2D1 T A 1 0.000199681 . . . . . . intronic . . . . 2.5 7 81635245 CACNA2D1 T C 1 0.00399361 . . . . . . intronic . . . 0.0053 0 7 81641500 CACNA2D1 G A 1 0.00319489 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0122 synonymous_SNV exonic . 0.0083 0.0109 0.0135 -2.5 7 81641570 LOC101927356 G GAA,GAAA,GAAAA 1 0.221046 . MedGen:CN169374 not_specified Benign 0.1156 . ncRNA_intronic . . 0.1431 0.2453 -2.5 7 81641571 LOC101927356 A G 2 0.00159744 . MedGen:CN169374 not_specified Likely_benign 0.0720 . ncRNA_intronic . . 0.0079 0.0002 -2.5 7 81642949 LOC101927356 C T 102 0.544728 . . . . . . ncRNA_intronic . . . 0.3871 -2.5 7 81643813 LOC101927356 T C 3 0.00359425 . MedGen:CN169374 not_specified Benign 0.0073 . ncRNA_intronic . 0.0079 0.0075 0.0069 0 7 81643836 LOC101927356 A C 1 0.000199681 . . . . 0.0002 . ncRNA_intronic . . 0.0002 . 2.5 7 81667468 CACNA2D1 C T 8 0.019369 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0502 synonymous_SNV exonic . 0.0448 0.0474 0.0631 -2.5 7 81667579 CACNA2D1 A G 3 0.00239617 . . . . 0.0059 . intronic . 0.0063 0.0061 0.0061 0 7 81689726 CACNA2D1 C T 1 0.000199681 . . . . 1.52e-05 . intronic . . 2.714e-05 . 2.5 7 81693768 CACNA2D1 T C 29 0.091853 . . . . . . intronic . . . 0.0761 -2.5 7 81695859 CACNA2D1 G A 4 0.0071885 . MedGen:CN169374 not_specified Likely_benign 6.77e-05 . intronic . . 0.0057 0.0011 1 7 81746295 CACNA2D1 A G 1 0.00279553 . . . . . . intronic . . . 0.0083 0 7 81765930 CACNA2D1 T G 1 0.000399361 . . . . 0.0003 . intronic . 0.0001 0.0003 0.0004 2.5 7 81765996 CACNA2D1 C CA 20 0.125399 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.1348 . intronic . 0.0985 0.1094 0.0809 -2.5 7 81765997 CACNA2D1 A G 1 0.000199681 . . . . 0 . intronic . . 0 . 2.5 7 81799966 CACNA2D1 G A 4 0.0139776 . . . . 0.0244 . intronic . 0.0274 0.0265 0.0216 -2.5 7 81799990 CACNA2D1 T C 4 0.0609026 . . . . . . intronic . 0.0292 . 0.0218 -2.5 7 81799996 CACNA2D1 C G 4 0.0609026 . . . . . . intronic . 0.0289 . 0.0218 -2.5 7 81800028 CACNA2D1 CAGA C 1 0.000798722 . . . . . . intronic . . . 0.0007 0 7 81964578 CACNA2D1 G GA 50 0.16254 . MedGen:CN169374 not_specified Benign 0.2135 . intronic . 0.2010 0.2304 0.2180 -2.5 7 81964649 CACNA2D1 T G 3 0.0385383 . . . . . . intronic . . . 0.0114 -2.5 7 82072789 CACNA2D1 G A 1 0.000199681 . . . . 0.0003 . UTR5 . 0.0002 0.0003 0.0002 2.5 7 91603004 AKAP9 G A 1 0.0225639 0.259 . . . 0.0004 . intronic . 0.0006 0.0003 0.0003 1.5 7 91603115 AKAP9 C T 2 0.00219649 -1.115 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0127 nonsynonymous_SNV exonic T 0.0140 0.0133 0.0108 3.5 7 91622187 AKAP9 G C 1 0.000199681 . . . . 1.562e-05 . intronic . . 1.797e-05 . 6.5 7 91630330 AKAP9 G A 1 0.000199681 -0.799 Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3150943,OMIM:613688|MedGen:CN169374|MedGen:CN517202 Cardiac_arrest|Long_QT_syndrome|Long_QT_syndrome_2|not_specified|not_provided Likely_benign 0.0009 nonsynonymous_SNV exonic T 0.0001 0.0004 0.0003 6 7 91630532 AKAP9 G A 1 0.0177716 2.698 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 7.572e-05 nonsynonymous_SNV exonic T 0.0002 7.238e-05 6.675e-05 3.5 7 91630565 AKAP9 T C 1 0.000199681 4.893 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0002 8.5 7 91630620 AKAP9 G T 86 0.372204 -0.375 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN169374|MedGen:CN221574|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|not_specified|Colorectal_cancer|Cardiovascular_phenotype Benign/Likely_benign 0.4004 nonsynonymous_SNV exonic T 0.4030 0.3908 0.3782 3.5 7 91632306 AKAP9 C T 185 0.935903 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.8650 synonymous_SNV exonic . 0.8727 0.8638 0.8471 1.5 7 91641682 AKAP9 A G 1 0.000998403 . . . . . . intronic . . . 0.0007 4 7 91641714 AKAP9 T C 1 0.00319489 . . . . 0.0001 . intronic . . 0.0001 6.663e-05 4 7 91641928 AKAP9 A G 86 0.373802 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4006 synonymous_SNV exonic . 0.4031 0.3908 0.3779 1.5 7 91643488 AKAP9 G C 1 0.000199681 . . . . . . intronic . . . . 6.5 7 91646406 AKAP9 G A 3 0.0109824 0.354 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0154 nonsynonymous_SNV exonic T 0.0089 0.0083 0.0063 3.5 7 91652178 AKAP9 A AAAC 86 0.42472 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4010 nonframeshift_insertion exonic . 0.4031 0.3893 0.3761 1.5 7 91659150 AKAP9 C G 86 0.373802 . . . . . . intronic . . . 0.3790 1.5 7 91660820 AKAP9 A T 1 0.000599042 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Likely_benign 0.0006 . intronic . 0.0005 0.0006 0.0001 4 7 91667692 AKAP9 T G 86 0.359625 . . . . 0.4153 . intronic . 0.3989 0.3937 0.3770 1.5 7 91669950 AKAP9 T C 1 0.0091853 . . . . 0.0122 . intronic . . 0.0076 0.0176 1.5 7 91669960 AKAP9 GT G 87 0.398363 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign 0.2703 . intronic . . 0.2155 0.0041 1.5 7 91672166 AKAP9 T C 4 0.00738818 . . . . . . intronic . . . 0.0075 5 7 91674302 AKAP9 G A 86 0.428514 . MedGen:C2678483,OMIM:611820|MedGen:CN169374 Long_QT_syndrome_11|not_specified Benign 0.4009 . intronic . 0.4031 0.3906 0.3781 4.5 7 91691601 AKAP9 C T 86 0.359824 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4002 synonymous_SNV exonic . 0.4031 0.3906 0.3776 1.5 7 91706252 AKAP9 A G 1 0.000998403 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign 0.0005 synonymous_SNV exonic . 0.0002 0.0004 0.0007 4 7 91707197 AKAP9 C T 86 0.36242 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified Benign/Likely_benign 0.4291 . intronic . 0.4004 0.3882 0.3782 1.5 7 91708722 AKAP9 G A 1 0.00159744 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0039 synonymous_SNV exonic . 0.0047 0.0043 0.0043 4 7 91708898 AKAP9 A G 31 0.0654952 -1.816 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1364 nonsynonymous_SNV exonic T 0.1273 0.1370 0.1533 3.5 7 91708935 AKAP9 T G 1 0.000199681 -0.178 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0005 nonsynonymous_SNV exonic T 0.0002 0.0004 0.0004 6 7 91711791 AKAP9 A AT,G 1 0.360623 . . . . 0.4049 . intronic . 0.4042 0.3933 0.3787 1.5 7 91712609 AKAP9 A C 2 0.000798722 -0.507 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0021 nonsynonymous_SNV exonic T 0.0013 0.0019 0.0018 6 7 91712678 AKAP9 T G 1 0.000199681 . . . . 1.509e-05 synonymous_SNV exonic . . 2.707e-05 . 6.5 7 91712698 AKAP9 A G 85 0.295927 -0.076 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3992 nonsynonymous_SNV exonic T 0.4013 0.3899 0.3764 3.5 7 91713016 AKAP9 TA T 86 0.360623 . . . . 0.5086 . intronic . . 0.5109 0.3921 1.5 7 91713017 AKAP9 A T 73 0.322085 . . . . 0.0076 . intronic . . 0.0020 0.0004 1.5 7 91713018 AKAP9 A T 86 0.360623 . . . . 0.4909 . intronic . . 0.4696 0.3746 1.5 7 91713972 AKAP9 C T 86 0.373802 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4000 synonymous_SNV exonic . 0.4027 0.3900 0.3782 1.5 7 91714911 AKAP9 C T 214 0.998802 -0.130 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.9963 nonsynonymous_SNV exonic T 0.9962 0.9963 0.9942 3.5 7 91714998 AKAP9 G A 1 0.000199681 0.726 . . . 5.457e-05 nonsynonymous_SNV exonic T . 2.731e-05 0 8.5 7 91715662 AKAP9 C T 85 0.295727 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3990 synonymous_SNV exonic . 0.4013 0.3898 0.3766 1.5 7 91718874 AKAP9 A G 1 0.0125799 0.526 . . . 0.0199 . intronic . 0.0203 0.0182 0.0220 1.5 7 91726280 AKAP9 G A 1 0.000199681 0.447 . . . 2.998e-05 nonsynonymous_SNV exonic T . 4.481e-05 0 8.5 7 91726470 AKAP9 T C 1 0.000998403 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign 0.0020 synonymous_SNV exonic . 0.0030 0.0022 0.0022 4 7 91726927 AKAP9 A C 86 0.377396 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4001 synonymous_SNV exonic . 0.4036 0.3909 0.3776 1.5 7 91727018 AKAP9 C A 1 0.000199681 0.054 . . . . nonsynonymous_SNV exonic T . . . 8.5 7 91727385 AKAP9 G A 86 0.362021 . . . . 0.4158 . intronic . 0.4027 0.3901 0.3775 1.5 7 91727479 AKAP9 A T 1 0.000599042 6.273 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0014 nonsynonymous_SNV exonic T 0.0013 0.0015 0.0012 6 7 91727487 AKAP9 A G 1 0.000998403 3.059 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0010 nonsynonymous_SNV exonic T 0.0008 0.0010 0.0006 6 7 91729127 AKAP9 A G 2 0.00678914 1.252 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0099 nonsynonymous_SNV exonic T 0.0088 0.0104 0.0093 3.5 7 91730115 AKAP9 G C 1 0.00139776 . . . . . . intronic . . . 0.0081 4 7 91732083 AKAP9 G A 1 0.00159744 2.838 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0021 nonsynonymous_SNV exonic T 0.0021 0.0022 0.0019 6 7 91734904 AKAP9 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 7 91734913 AKAP9 C T 1 0.000199681 . . . . . . intronic . . . 0 6.5 7 91735104 AKAP9 A C 2 0.00139776 . . . . 0.0006 . intronic . 0.0001 0.0007 0.0004 4 7 91735110 AKAP9 A G 1 0.000199681 . . . . 1.512e-05 . intronic . . 1.795e-05 6.668e-05 6.5 7 91736794 AKAP9 T A 88 0.428315 . . . . . . intronic . . . 0.3754 4.5 7 91736803 AKAP9 AT A 1 0.000599042 . . . . . . intronic . . . 0.0033 4 7 91739498 AKAP9 G A 1 0.000399361 . . . . 0.0002 . UTR3 . . 0.0001 0.0002 6.5 7 92077202 GATAD1 G A 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 7 92077203 GATAD1 G A 25 0.0816693 -0.493 MedGen:C3553409,OMIM:614672|MedGen:CN169374 Cardiomyopathy,_dilated,_2b|not_specified Benign 0.2308 nonsynonymous_SNV exonic T . 0.2080 0.1293 7.125 7 92084022 GATAD1 G GT 12 0.0179712 . . . . 0.0373 . intronic . 0.0412 0.0399 0.0337 1.5 7 92085763 GATAD1 C T 5 0.00698882 7.208 MedGen:C3553409,OMIM:614672|MedGen:CN169374 Cardiomyopathy,_dilated,_2b|not_specified Benign 0.0164 nonsynonymous_SNV exonic T 0.0155 0.0172 0.0138 4.125 7 128470838 FLNC C T 21 0.110024 . MedGen:CN169374 not_specified Benign 0.0860 synonymous_SNV exonic . 0.0851 0.0856 0.0929 -2.5 7 128471084 FLNC G A 1 0.000599042 . . . . 0.0015 . intronic . 0.0021 0.0017 0.0019 0 7 128475583 FLNC C A 1 0.000199681 2.790 . . . 1.518e-05 nonsynonymous_SNV exonic D . 9.136e-06 . 4.5 7 128475624 FLNC C T 2 0.00119808 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0025 synonymous_SNV exonic . 0.0021 0.0023 0.0017 1.25 7 128475627 FLNC C T 1 0.000199681 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Likely_benign 0.0004 synonymous_SNV exonic . 0.0001 0.0003 0.0004 3.75 7 128477472 FLNC T C 26 0.121805 . MedGen:CN169374 not_specified Benign 0.1113 synonymous_SNV exonic . 0.1110 0.1118 0.1201 -2.5 7 128477547 FLNC T C 26 0.121006 . MedGen:CN169374 not_specified Benign 0.1112 synonymous_SNV exonic . 0.1108 0.1116 0.1200 -2.5 7 128477620 FLNC G A 24 0.076877 . MedGen:CN169374 not_specified Benign 0.0891 . intronic\x3bintronic . 0.0864 0.0879 0.0896 -2.5 7 128477865 FLNC G A 8 0.197484 . . . . . . intronic . . . 0.0397 -2.5 7 128478103 FLNC C T 8 0.196486 . MedGen:CN169374 not_specified Benign 0.0420 synonymous_SNV exonic . 0.0409 0.0410 0.0397 -2.5 7 128478605 FLNC C T 1 0.0191693 . . . . . . intronic . 0.0005 . 0.0002 -2.5 7 128480099 FLNC C T 1 0.000199681 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign 0.0002 synonymous_SNV exonic . 0.0006 0.0003 0.0003 1.25 7 128480123 FLNC C A 3 0.196086 . MedGen:CN169374 not_specified Benign 0.0205 synonymous_SNV exonic . 0.0179 0.0181 0.0192 -2.5 7 128480229 FLNC C A 1 0.00139776 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.0063 . intronic . 0.0052 0.0064 0.0067 0 7 128480620 FLNC T C 1 0.000199681 4.290 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0002 nonsynonymous_SNV exonic D 0.0001 0.0002 0.0002 7 7 128480666 FLNC C T 4 0.0159744 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0395 synonymous_SNV exonic . 0.0347 0.0386 0.0442 -1.875 7 128480791 FLNC C G 27 0.298123 . . . . . . intronic . . . 0.0918 -2.5 7 128480793 FLNC GGGCTGCGAGGGAGTTTGAGGGGAGATGGAGTT G 4 0.019369 . . . . . . intronic\x3bintronic . . . 0.0440 -2.5 7 128481035 FLNC G T 2 0.00239617 . MedGen:CN169374 not_specified Conflicting_interpretations_of_pathogenicity 0.0007 . intronic . 0.0005 0.0006 0.0004 0 7 128481060 FLNC G A 6 0.00459265 . MedGen:CN169374 not_specified Likely_benign 0.0102 . intronic . 0.0075 0.0091 0.0072 -2.5 7 128481196 FLNC T C 8 0.264976 . MedGen:CN169374 not_specified Benign 0.0447 . intronic . 0.0434 0.0441 0.0429 -2.5 7 128481312 FLNC G A 1 0.00159744 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0064 synonymous_SNV exonic . 0.0054 0.0066 0.0068 0.625 7 128481386 FLNC T G 1 0.000399361 0.903 MedGen:CN169374 not_specified Likely_benign 5.997e-05 nonsynonymous_SNV exonic T . 7.162e-05 0 4.5 7 128481578 FLNC A C 1 0.00199681 6.252 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0057 nonsynonymous_SNV exonic D 0.0054 0.0051 0.0043 4.625 7 128482258 FLNC T C 1 0.00179712 . MedGen:CN169374 not_specified Likely_benign 0.0059 . intronic . 0.0058 0.0061 0.0060 0 7 128482440 FLNC C G 9 0.267372 . MedGen:CN169374 not_specified Benign 0.0534 . intronic . 0.0515 0.0539 0.0538 -2.5 7 128482806 FLNC G T 4 0.0147764 . . . . 0.0665 . intronic\x3bintronic . 0.0348 0.0389 0.0443 -2.5 7 128482834 FLNC C T 5 0.00339457 . MedGen:CN169374 not_specified Benign 0.0169 . intronic . 0.0114 0.0136 0.0101 -2.5 7 128482835 FLNC C T 4 0.0147764 . MedGen:CN169374 not_specified Benign 0.0449 . intronic . 0.0352 0.0387 0.0446 -2.5 7 128483227 FLNC T C 34 0.361821 . . . . . . intronic . 0.1647 . 0.1732 -2.5 7 128483635 FLNC C T 1 0.000199681 . . . . 0 . intronic . . 9.232e-06 . 2.5 7 128484373 FLNC T C 1 0.000199681 . . . . . . intronic . . . . 2.5 7 128484816 FLNC A G 34 0.379992 . MedGen:CN169374 not_specified Benign 0.1635 synonymous_SNV exonic . 0.1648 0.1643 0.1724 -2.5 7 128484977 FLNC T G 1 0.000399361 3.089 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant|not_provided Uncertain_significance 7.511e-05 nonsynonymous_SNV exonic D . 9.855e-05 6.67e-05 4.5 7 128485240 FLNC C T 2 0.00199681 5.769 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0092 nonsynonymous_SNV exonic D 0.0095 0.0093 0.0117 2.125 7 128486091 FLNC C T 4 0.0197684 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0398 synonymous_SNV exonic . 0.0345 0.0386 0.0448 -1.875 7 128486252 FLNC T TGGGCAGGTGGGCAGGGCC 8 0.158147 . . . . 0.0418 . intronic . 0.0411 . 0.0413 -2.5 7 128486363 FLNC C T 35 0.346046 . MedGen:CN169374 not_specified Benign 0.1711 synonymous_SNV exonic . 0.1622 0.1667 0.1717 0.5 7 128486412 FLNC G A 1 0.000798722 5.915 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic T 0.0018 0.0009 0.0002 4.5 7 128486446 FLNC C T 8 0.160543 . MedGen:CN169374 not_specified Benign 0.0420 synonymous_SNV exonic . 0.0401 0.0409 0.0396 -2.5 7 128486579 FLNC C T 2 0.0091853 . . . . . . intronic . . . 0.0192 -2.5 7 128487866 FLNC T C 214 0.990615 . MedGen:CN169374 not_specified Benign 0.9999 synonymous_SNV exonic . 1 0.9999 0.9999 -2.5 7 128487893 FLNC G A 8 0.257788 . MedGen:CN169374 not_specified Benign 0.0446 synonymous_SNV exonic . 0.0433 0.0439 0.0428 -2.5 7 128488072 FLNC C T 1 0.000199681 . . . . 2.291e-05 synonymous_SNV exonic . . 1.923e-05 0 2.5 7 128488734 FLNC G A 21 0.0625 4.924 MedGen:CN169374 not_specified Benign 0.0879 nonsynonymous_SNV exonic T 0.0850 0.0866 0.0886 -0.5 7 128488800 FLNC G A 4 0.0147764 . . . . 0.0396 . intronic\x3bintronic . 0.0352 0.0386 0.0445 -2.5 7 128490012 FLNC C T 1 0.000798722 . MedGen:CN169374 not_specified Likely_benign 3.903e-05 . intronic . . 1.086e-05 0 0 7 128490553 FLNC T C 37 0.403355 . MedGen:CN169374 not_specified Benign 0.1948 . intronic . 0.1900 0.1934 0.2064 0.5 7 128490926 FLNC C T 1 0.000599042 5.676 . . . 0 nonsynonymous_SNV exonic D . 8.954e-06 0.0001 4 7 128491497 FLNC C T 4 0.0147764 . MedGen:CN169374 not_specified Benign 0.0396 . intronic . 0.0352 0.0386 0.0445 -2.5 7 128491603 FLNC T C 8 0.288938 . MedGen:CN169374 not_specified Benign 0.0448 synonymous_SNV exonic . 0.0448 0.0443 0.0431 -2.5 7 128492817 FLNC G A 1 0.00399361 . MedGen:CN169374 not_specified Benign 0.0105 . intronic\x3bintronic . 0.0128 0.0114 0.0102 -2.5 7 128492825 FLNC G A 1 0.00479233 . MedGen:CN169374 not_specified Benign 0.0185 . intronic\x3bintronic . 0.0172 0.0189 0.0180 -2.5 7 128495338 FLNC C T 9 0.258786 . MedGen:CN169374 not_specified Benign 0.0445 synonymous_SNV exonic . 0.0436 0.0439 0.0426 -2.5 7 128497040 FLNC C T 1 0.00638978 . . . . . . intronic . . . 0.0078 0 7 128498228 FLNC C T 1 0.000399361 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign 0.0011 synonymous_SNV exonic . 0.0004 0.0010 0.0014 2.5 7 128498630 FLNC TACACAC TACAC,T 1 0.0890575 . . . . . . UTR3 . . . 0.1074 -2.5 7 136699781 CHRM2 G A 1 0.000199681 4.382 . . . 6e-05 nonsynonymous_SNV exonic T . 5.403e-05 0 8.5 7 136700303 CHRM2 G A 1 0.000998403 2.077 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0045 nonsynonymous_SNV exonic T 0.0049 0.0053 0.0071 6 7 136700385 CHRM2 A G 1 0.000998403 -1.074 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0020 nonsynonymous_SNV exonic T 0.0017 0.0018 0.0007 6 7 136700726 CHRM2 C G 1 0.000399361 0.481 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign 0.0018 nonsynonymous_SNV exonic T 0.0016 0.0016 0.0013 6 7 150644388 KCNH2 C G 1 0.000399361 . . . . 0 . intronic . . 0.0003 0.0004 6.5 7 150644394 KCNH2 C T 50 0.385583 . . . . 0.3279 . intronic . 0.1625 0.2188 0.2221 1.5 7 150644428 KCNH2 C A 3 0.00898562 5.379 EFO:EFO_0005307,MedGen:C0040479,SNOMED_CT:31722008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0520806|MedGen:C3150943,OMIM:613688|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Torsades_de_pointes|Long_QT_syndrome|Cardiac_arrhythmia|Sudden_unexplained_death|Long_QT_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0200 nonsynonymous_SNV exonic T 0.0178 0.0228 0.0351 3.5 7 150644755 KCNH2 C T 1 0.000199681 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 7.575e-05 synonymous_SNV exonic . . 6.875e-05 6.684e-05 6.5 7 150644866 KCNH2 C T 1 0.000199681 . . . . . synonymous_SNV exonic . . 4.252e-05 . 6.5 7 150644890 KCNH2 C G 1 0.000199681 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Likely_benign . synonymous_SNV exonic . . . . 6.5 7 150645015 KCNH2 G A 1 0.000599042 . . . . 0 . intronic . . 0.0018 0.0016 4 7 150645023 KCNH2 G A 20 0.174121 . . . . . . intronic . . . 0.1149 1.5 7 150645534 KCNH2 T G 63 0.136182 2.039 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0004238|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Atrial_fibrillation|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.2348 nonsynonymous_SNV exonic T 0.2326 0.2359 0.2577 3.5 7 150645682 KCNH2 G A 134 0.709465 . . . . 0.5634 . intronic . 0.5610 0.5705 0.5607 1.5 7 150647569 KCNH2 T C 138 0.754992 . . . . . . intronic\x3bintronic . . . 0.5989 1.5 7 150647969 KCNH2 C T 67 0.273762 . . . . 0.2634 . intronic . 0.2281 0.2678 0.2570 1.5 7 150647970 KCNH2 C G 67 0.273762 . . . . 0.2639 . intronic . 0.2324 0.2681 0.2574 1.5 7 150648198 KCNH2 A G 138 0.772165 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.5994 synonymous_SNV exonic . 0.5898 0.6023 0.6004 1.5 7 150648229 KCNH2 G A 1 0.00239617 . . . . 4.892e-05 . intronic . . 2.908e-05 6.686e-05 4 7 150648789 KCNH2 T C 76 0.608427 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3756 synonymous_SNV exonic . 0.3601 0.3725 0.3836 1.5 7 150648986 KCNH2 G C 78 0.431709 . . . . . . intronic . . . 0.3292 1.5 7 150649531 KCNH2 G A 50 0.341653 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.2218 synonymous_SNV exonic . 0.2133 0.2141 0.2223 1.5 7 150649542 KCNH2 G A 1 0.000599042 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0015 synonymous_SNV exonic . 0.0017 0.0011 0.0013 4 7 150649603 KCNH2 G A 51 0.342652 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.2213 synonymous_SNV exonic . 0.2135 0.2152 0.2231 1.5 7 150649984 KCNH2 G C 1 0.000199681 . . . . 0.0001 . intronic . 0.0003 0.0001 0.0002 6.5 7 150652419 KCNH2 T C 20 0.133786 . . . . . . intronic . . . 0.1133 1.5 7 150652420 KCNH2 G A 1 0.000199681 . . . . . . intronic . . . 0.0005 4 7 150654622 KCNH2 A AG 214 1 . . . . 1 . intronic . 0.9988 1.0000 1 1.5 7 150655624 KCNH2 T C 70 0.501797 . . . . 0.3521 . intronic . 0.2406 0.3112 0.3351 4.5 7 150655643 KCNH2 G A 70 0.4998 . . . . . . intronic . . . 0.3350 4.5 7 150656690 KCNH2 G A 1 0.000599042 4.974 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0015 nonsynonymous_SNV exonic D 0.0019 0.0006 0.0006 6 7 150671769 KCNH2 G A 1 0.0215655 . . . . 0.0078 . intronic . 0.0025 0.0021 0.0026 1.5 7 150671772 KCNH2 C G 1 0.00219649 . . . . 0.0055 . intronic . . 0.0024 0.0036 4 7 150671793 KCNH2 T C 1 0.000199681 . . . . . . intronic . . 0 0 6.5 7 150675078 KCNH2 C G 1 0.000199681 . . . . . . UTR5 . . . . 6.5 7 151254175 PRKAG2 T C 139 0.554313 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN239247 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Likely_benign . . UTR3 . . . 0.6430 2.75 7 151254231 PRKAG2 C T 3 0.00519169 . . . . . . UTR3 . 0.0082 . 0.0071 4 7 151254443 PRKAG2 G A 8 0.0131789 . . . . . . intronic . . . 0.0429 1.5 7 151254445 PRKAG2 T C 139 0.540136 . . . . . . intronic . . . 0.6433 1.5 7 151262385 PRKAG2 T C 8 0.0171725 . . . . 0.0411 . intronic . 0.0316 0.0351 0.0340 1.5 7 151262528 PRKAG2 A C 1 0.00239617 . . . . . . intronic . . . 0.0008 4 7 151267237 PRKAG2 GA GAA 2 . . . . . . . intronic . . . . 9 7 151267292 PRKAG2 T A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 3.013e-05 synonymous_SNV exonic . . 1.8e-05 . 6.5 7 151267353 PRKAG2 G A 23 0.144169 . MedGen:CN169374 not_specified Benign 0.1175 . intronic . 0.1105 0.1131 0.1201 1.5 7 151267397 PRKAG2 G A 40 0.242412 . . . . . . intronic . . . 0.2439 1.5 7 151269890 PRKAG2 T A 23 0.147764 . . . . . . intronic . . . 0.1198 1.5 7 151269916 PRKAG2 C T 23 0.147764 . . . . . . intronic . . . 0.1201 1.5 7 151292395 PRKAG2 A AT 156 0.804712 . MedGen:CN169374 not_specified Likely_benign 0.7345 . intronic . 0.7284 0.7300 0.7277 1.5 7 151292609 PRKAG2 G A 1 0.000199681 . . . . . . intronic . . . 6.663e-05 6.5 7 151292614 PRKAG2 C T 1 0.000199681 . . . . . . intronic . . . 0.0002 6.5 7 151329345 PRKAG2 G A 2 0.0547125 . . . . . . intronic . . . 0.0043 1.5 7 151372472 PRKAG2 C T 1 0.000399361 . . . . 0.0012 . intronic . 0.0008 0.0009 0.0016 4 7 151372744 PRKAG2 A G 1 0.061901 . . . . 0.0143 . intronic . 0.0120 0.0134 0.0133 1.5 7 151478187 PRKAG2 A G 10 0.0157748 . . . . 0.0478 . intronic . 0.0491 0.0487 0.0502 1.5 7 151478227 PRKAG2 C G 1 0.000199681 . . . . 4.516e-05 . intronic . . 2.69e-05 . 6.5 7 151483608 PRKAG2 A T 1 0.000199681 3.373 . . . 3.591e-05 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D . 1.809e-05 . 6.5 7 151573549 PRKAG2 G A 7 0.0587061 . MedGen:CN169374 not_specified Benign 0.0445 . intronic . 0.0434 0.0444 0.0411 1.5 7 151573580 PRKAG2 G A 7 0.0277556 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign 0.0710 . intronic . 0.0769 0.0731 0.0817 2.75 7 151573731 PRKAG2 G A 26 0.188898 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Likely_benign 0.1276 . UTR5 . 0.1259 0.1237 0.1309 2.75 8 11566168 GATA4 C T 1 0.000199681 3.029 . . . . nonsynonymous_SNV exonic D . . . 4.5 8 11606364 GATA4 G C 23 0.0493211 . MedGen:C0152021,SNOMED_CT:13213009 Congenital_heart_disease Pathogenic . . intronic . . . 0.1886 -2.5 8 11607658 GATA4 C T 1 0.00179712 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED_CT:86299006|MedGen:C1842778,OMIM:607941|MedGen:C3280777,OMIM:614429|MedGen:C3280781,OMIM:614430|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Tetralogy_of_Fallot|Atrial_septal_defect_2|Ventricular_septal_defect_1|Atrioventricular_septal_defect_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0030 synonymous_SNV exonic . 0.0040 0.0032 0.0041 2.5 8 11607693 GATA4 C T 1 0.000599042 6.411 . . . 6.036e-05 nonsynonymous_SNV exonic D . 7.173e-05 . 4 8 11612512 GATA4 C T 1 0.000199681 . . . . 0.0001 . intronic . . 0.0001 6.664e-05 2.5 8 11612519 GATA4 A C 1 0.000199681 . . . . 1.804e-05 . intronic . . 9.167e-06 . 2.5 8 11612665 GATA4 A T 1 0.0233626 . . . . 0.0006 . intronic . 0.0003 0.0007 0.0003 -2.5 8 11612698 GATA4 C A 119 0.734425 . MedGen:C0152021,SNOMED_CT:13213009|MedGen:CN517202 Congenital_heart_disease|not_provided Conflicting_interpretations_of_pathogenicity . . intronic . 0.5839 . 0.5729 3.5 8 11614575 GATA4 A G 21 0.0429313 0.793 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.1354 nonsynonymous_SNV exonic T 0.14 0.1309 0.1595 -0.5 8 11616015 GATA4 C T 1 0.000199681 . . . . 0.0002 . UTR3 . 0.0001 0.0002 0.0005 0 8 74888494 TMEM70 C T 61 0.216653 . MedGen:CN239153 Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign 0.3705 . UTR5 . 0.2945 0.3017 0.3004 -2.5 8 74888616 TMEM70 G C 42 0.176118 2.230 MedGen:CN169374|MedGen:CN239153 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign 0.1674 nonsynonymous_SNV exonic T 0.1301 0.1316 0.1276 -0.5 8 74890961 TMEM70 A G 106 0.477835 . . . . 0.4598 . intronic\x3bintronic . 0.4551 0.4526 0.4510 -2.5 8 74890985 TMEM70 C T 2 0.000599042 . MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Conflicting_interpretations_of_pathogenicity 0.0042 . intronic\x3bintronic . 0.0040 0.0041 0.0033 0 8 74891164 TMEM70 A G 42 0.186102 . . . . . . intronic\x3bintronic . . . 0.1276 -2.5 8 74893419 TMEM70 C G 3 0.0227636 -2.907 MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign/Likely_benign 0.0202 nonsynonymous_SNV exonic T 0.0177 0.0193 0.0219 -0.5 8 74893653 TMEM70 G A 5 0.0071885 0.759 MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified Benign 0.0170 nonsynonymous_SNV exonic T 0.0156 0.0154 0.0173 -0.5 8 74893727 TMEM70 A G 1 0.000199681 . . . . 0.0002 synonymous_SNV exonic . . 0.0002 0.0003 2.5 8 74893821 TMEM70 A G 45 0.258986 -3.329 MedGen:CN169374|MedGen:CN239153 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign 0.1603 nonsynonymous_SNV exonic T 0.1556 0.1522 0.1506 -0.5 8 74893839 TMEM70 C T 1 0.000199681 -1.050 . . . 4.57e-05 nonsynonymous_SNV exonic T . 2.736e-05 . 4.5 8 74893850 TMEM70 C G 45 0.258986 -1.736 MedGen:CN169374|MedGen:CN239153 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign 0.1605 nonsynonymous_SNV exonic T 0.1556 0.1516 0.1506 -0.5 8 74893880 TMEM70 C T 106 0.47504 . MedGen:CN239153 Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign 0.4715 . UTR3 . 0.4513 0.4515 0.4520 -2.5 9 7161999 KDM4C A C 6 0.00599042 . . . . . . intronic . . . 0.0156 -2.5 9 7162001 KDM4C CT C 2 0.000798722 . . . . . . intronic . . . 0.0011 0 9 7162074 KDM4C A C 5 0.0061901 . . . . . . intronic . . . 0.0125 -2.5 9 7162249 KDM4C C G 1 0.000199681 . . . . . . intronic . . . . 2.5 9 7162351 KDM4C G A 73 0.126797 . . . . . . intronic . . . 0.1872 -2.5 9 7162437 KDM4C G A 1 0.000199681 . . . . . . intronic . . . 0.0006 0 9 71650692 FXN G A 9 0.00758786 . MedGen:CN169374 not_specified Benign 0.0265 . UTR5 . . 0.0325 0.0291 1.5 9 71650752 FXN A G 214 0.984824 . MedGen:C1856689,OMIM:229300|MedGen:CN169374|MedGen:CN230736 Friedreich_ataxia_1|not_specified|Cardiovascular_phenotype Benign 1 synonymous_SNV exonic . . 0.9998 0.9999 1.5 9 71650878 FXN C T 1 0.00119808 . . . . 0 . intronic . . 0 0 4 9 71650906 FXN G GGCCGCAC 4 0.00339457 . . . . 0 . intronic . . 0.0005 0.0098 5 9 71661314 FXN G A 1 0.00179712 -0.060 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 1.518e-05 nonsynonymous_SNV exonic T . 8.954e-06 0 6 9 71667986 FXN G A 86 0.349241 . . . . . . intronic . . . 0.4440 1.5 9 71668197 FXN T C 120 0.501597 . . . . 0.5290 . intronic . 0.5149 0.5285 0.5132 1.5 9 71680034 FXN C T 1 0.000998403 . . . . . . intronic\x3bintronic . . . 0.0018 4 9 71687440 FXN C T 91 0.467053 . . . . . . intronic . . . 0.4020 1.5 9 71687451 FXN G A 1 0.000998403 . . . . . . intronic . . . 0.0035 4 9 103340369 MURC G A 84 0.302915 . . . . . . UTR5 . . . 0.4299 4.5 9 103340875 MURC T C 65 0.210663 . . . . 0.3243 . intronic . 0.3068 0.3287 0.3437 4.5 9 103348157 MURC G C 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 0.0007 synonymous_SNV exonic . 0.0005 0.0007 0.0006 4 9 103348208 MURC A T 4 0.117812 . MedGen:CN169374 not_specified Benign 0.0238 synonymous_SNV exonic . 0.0236 0.0238 0.0218 1.5 9 103348340 MURC A G 2 0.000998403 . . . . 0 synonymous_SNV exonic . . 0 0 4 9 103348343 MURC G A 2 0.000998403 . . . . . synonymous_SNV exonic . . . . 4 9 103348352 MURC A G 2 0.00119808 . . . . . synonymous_SNV exonic . . . . 4 9 103348538 MURC C T 1 0.000199681 . . . . 0.0003 synonymous_SNV exonic . 0.0005 0.0004 0.0002 4 9 103348634 MURC G A 84 0.293331 . MedGen:CN169374 not_specified Benign 0.4040 synonymous_SNV exonic . 0.4166 0.4052 0.4264 7.5 9 108363426 FKTN C T 8 0.0103834 5.704 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222 Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0368 nonsynonymous_SNV exonic D 0.0283 0.0273 0.0245 5.5 9 108366499 FKTN G A 1 0.0371406 1.784 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736 Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign 0.0106 nonsynonymous_SNV exonic T 0.0114 0.0110 0.0108 3.5 9 108366734 FKTN G A 55 0.158147 3.672 MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222 Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive Benign/Likely_benign 0.3053 nonsynonymous_SNV exonic T 0.3190 0.3085 0.3229 6.5 9 108370163 FKTN C G 1 0.000199681 2.079 . . . . nonsynonymous_SNV exonic T . . . 8.5 9 108380223 FKTN T A 2 0.000399361 . . . . 0.0002 . intronic . . 0.0001 . 6.5 9 108380355 FKTN C A 55 0.178315 . MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222 Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive Benign/Likely_benign 0.3058 synonymous_SNV exonic . 0.3177 0.3079 0.3218 1.5 9 108380417 FKTN A G 4 0.0113818 . MedGen:CN169374 not_specified Benign 0.0405 . intronic . 0.0375 0.0407 0.0387 1.5 9 108397426 FKTN T C 1 0.000199681 6.116 . . . 1.498e-05 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D . 8.957e-06 . 6.5 9 131707989 DOLK G A 1 0.000199681 1.384 . . . 2.997e-05 nonsynonymous_SNV exonic D . 2.685e-05 . 8.5 9 131708145 DOLK T C 1 0.000199681 0.079 MedGen:CN517202 not_provided Uncertain_significance 8.991e-05 nonsynonymous_SNV exonic T 0.0001 0.0001 0.0001 8.5 9 131708504 DOLK T C 1 0.000798722 3.446 MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374 Congenital_disorder_of_glycosylation_type_1M|not_specified Likely_benign 0.0017 nonsynonymous_SNV exonic T 0.0009 0.0012 0.0005 6 9 131708883 DOLK T C 1 0.000998403 -0.828 MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374 Congenital_disorder_of_glycosylation_type_1M|not_specified Uncertain_significance 0.0019 nonsynonymous_SNV exonic T 0.0014 0.0020 0.0019 6 9 131709581 DOLK A AT 1 0.00259585 . MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374|MedGen:CN517202 Congenital_disorder_of_glycosylation_type_1M|not_specified|not_provided Benign/Likely_benign 0.0130 frameshift_insertion exonic . 0.0092 0.0114 0.0092 6.5