Mercurial > repos > elixir-it > vinyl_survival
changeset 0:a3342d37ab29 draft
Uploaded
| author | elixir-it |
|---|---|
| date | Tue, 09 Jun 2020 16:15:40 +0000 |
| parents | |
| children | 2d8f37e3b774 |
| files | survival survival.R survival_M.xml test-data/ALL_DCM.csv test-data/output_survival_test test-data/test_DCM.csv |
| diffstat | 4 files changed, 4267 insertions(+), 0 deletions(-) [+] |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/survival.R Tue Jun 09 16:15:40 2020 +0000 @@ -0,0 +1,30 @@ +#!/usr/bin/env Rscript +args <- commandArgs(trailingOnly = TRUE) +fileR=args[1] +fileT=args[2] +ofile=args[3] +data_R=read.table(fileR,header=T) +data_T=read.table(fileT,header=T) + +#P=wilcox.test(data_R$Score,data_T$Score,alternative="gr")$p.value +range= rev(seq(min(data_R$VINYL_score),max(data_R$VINYL_score),0.5)) +header=paste("Cut-off","PosD","PosH","FisherPV","OR",sep="\t"); +cat(header,file=ofile,sep="\n",append=T) + +m=matrix(ncol=2,nrow=2) +totR=nrow(data_R) +totT=nrow(data_T) +for (r in range) +{ + posR=sum(data_R$VINYL_score>=r); + posT=sum(data_T$VINYL_score>=r); + m[,1]=c(posR,totR); + m[,2]=c(posT,totT); + + F=fisher.test(m,alternative="greater") + Fpv=F$p.value + Fodds=F$estimate + + string=paste(r,posR,posT,Fpv,Fodds,sep="\t") + cat(string,file=ofile,sep="\n",append=T) +}
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/survival_M.xml Tue Jun 09 16:15:40 2020 +0000 @@ -0,0 +1,59 @@ +<tool id="survival" name="survival" version="1"> + <description> Survival Analysis. This module of VINYL identifies the optimal score cut-off for the idenfication of likely pathogenic variants </description> + <requirements> + <requirement type="package" >r-base</requirement> + </requirements> + <command> <![CDATA[ + ### call the .sh to untar the package + Rscript --vanilla $__tool_directory__/survival_M.R $csv1 $csv2 $tabular + +##Questo è uno script di R, che andrebbe fatto girare dopo che il coso ha +##finito. +## +##Ha in input 3 parametri: 2 sono file che si deve leggere, 1 è il nome +##del file di output (che è un semplice file tabulare) +## +##trovi il tutto a questo link: http://159.149.160.53/coso/survival/ +##Inclusi 2 file di esempio +## +##Il comando per farlo girare è +## +##Rscript --vanilla survival.R ALL_DCM.csv test_DCM.csv ofile + + ]]> + </command> + <inputs> + <param format="tabular,csv" name="csv1" type="data" label="affected" help="VINYL Tabular output format file. Affected individuals "/> + <param format="tabular,csv" name="csv2" type="data" label="healthy" help="VINYL Tabular output format file. Unaffected individuals"/> + </inputs> + <outputs> + <data format="tabular" name="tabular" label="${tool.name} on ${on_string}: tabular output " help="Table with results of the survival analysis."/> + </outputs> + <stdio> + <regex match="error" + source="stdout" + level="fatal" + description="Unknown error encountered" /> + </stdio> + <tests> + <test> + <param format="tabular,csv" name="csv1" value="ALL_DCM.csv" ftype="csv" /> + <param format="tabular,csv" name="csv2" value="test_DCM.csv" ftype="csv" /> + <output name="tabular" file="output_survival_test" ftype="tabular" /> + </test> + </tests> + <help> +**What it does** +VINYL is a software designed to assist in variant prioritization in medium-large cohort of patients. The program computes an aggregate score, which is based on an extensive collection of publicly available annotations, in order to identify/prioritize variants that are likely to be pathogenic or have a clinical significance. In order to derive an optimal cut off score for the variants, VINYL uses a strategy based on "survival analysis", where the pathogenicity score distribution of the affected individuals is compared with a matched cohort of unaffected individuals. +To facilitate the usage of the software, VINYL is provided in the form of a public Galaxy instance, based on the Laniakea suite. To ensure the maximum level of security, VINYL uses Encrypted data volumes for the storage of the data. + + +**Important Usage Note** +This wrapper provides the module of VINYL that perform survival analysis for the identification of a pathogenicity score cut-off. Two input tabular files need to be provided, one containing VINIL scores and annotations on a cohort of affected individual, and one from a population of unaffected controls. Please be make sure that both files were obtained by applying the same scoring system that is, by running VINIL with the same parameters. Weird results might be obtained otherwise. + +See the "survival" and the "VINYL-optimizer" utilities for the optimization of the score and the calculation of individual scores from a single vcf file. +A complete workflow that automates the exectuion of VINYL is available under the public workflows in the Galaxy VINYL instance + </help> + <citations> + </citations> +</tool>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/ALL_DCM.csv Tue Jun 09 16:15:40 2020 +0000 @@ -0,0 +1,3030 @@ +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 Score +chr1 2985885 PRDM16 C G 79 0.360224 . . . . 0.4481 . intronic . 0.3766 0.4203 0.4220 -2 +chr1 2985923 PRDM16 C T 2 . . . . . . . intronic . . . . 4 +chr1 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 0 +chr1 3102762 PRDM16 G A 1 . . . . . 3.105e-05 synonymous_SNV exonic . . 2.716e-05 . 4 +chr1 3102852 PRDM16 G A 2 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 +chr1 3301721 PRDM16 C T 63 0.340455 . MedGen:CN169374 not_specified Benign 0.2706 synonymous_SNV exonic . 0.2668 0.2715 0.2782 -2 +chr1 3313114 PRDM16 G C 1 . 4.714 . . . . nonsynonymous_SNV exonic T . 9.44e-06 . 4 +chr1 3319339 PRDM16 G A 14 0.0213658 . MedGen:CN169374 not_specified Benign 0.0700 . intronic . . 0.0716 0.0743 -2 +chr1 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 +chr1 3322124 PRDM16 C T 1 . . . . . 0 synonymous_SNV exonic . . 1.853e-05 . 4 +chr1 3328355 PRDM16 ACAT ACAC,CCAT 1 . 1.557 . . . . nonsynonymous_SNV exonic T . . . 4 +chr1 3328356 PRDM16 CAT CAC 16 . . . . . . frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion exonic\x3bexonic\x3bexonic . . . . 12 +chr1 3328357 PRDM16 AT AC,CT 16 . . . . . . synonymous_SNV exonic . . . . 12 +chr1 3328358 PRDM16 T C 168 0.945088 -0.543 MedGen:CN169374 not_specified Benign 0.8404 nonsynonymous_SNV exonic T 0.8356 0.8350 0.8459 -2 +chr1 3328659 PRDM16 C T 56 0.10603 3.424 MedGen:CN169374 not_specified Benign 0.1636 nonsynonymous_SNV exonic T 0.1516 0.1563 0.1406 -2 +chr1 3328948 PRDM16 C G 1 0.000199681 1.423 MedGen:C3809288,OMIM:615373 Left_ventricular_noncompaction_8 Likely_benign 0.0005 nonsynonymous_SNV exonic T 0.0004 0.0004 0.0012 0 +chr1 3329216 PRDM16 G A 1 . -0.077 . . . 0 nonsynonymous_SNV exonic T . 0 . 4 +chr1 3329263 PRDM16 C T 1 0.0537141 . MedGen:CN169374 not_specified Benign 0.0461 synonymous_SNV exonic . 0.0155 0.0196 0.0207 -2 +chr1 3329269 PRDM16 C T 2 . . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Conflicting_interpretations_of_pathogenicity 0.0034 synonymous_SNV exonic . 0.0001 0.0011 0.0006 0 +chr1 3329384 PRDM16 C T 55 0.107029 . MedGen:CN169374 not_specified Benign 0.2361 . intronic . 0.1344 0.1476 0.1392 -2 +chr1 3331099 PRDM16 C T 1 0.00199681 . . . . 0.0124 . intronic . 0.0098 0.0096 0.0075 -2 +chr1 3335362 PRDM16 G A 2 0.0233626 . . . . . . intronic . 0.0185 . 0.0221 -2 +chr1 3342128 PRDM16 G A 2 0.00539137 . MedGen:CN169374 not_specified Benign 0.0185 . intronic . 0.0206 0.0203 0.0221 -2 +chr1 3342326 PRDM16 G C 1 . . MedGen:CN169374 not_specified Likely_benign 0.0026 . intronic . 0.0019 0.0024 0.0047 0 +chr1 3342804 PRDM16 G T 64 0.379393 . MedGen:CN169374 not_specified Benign 0.2679 . intronic . 0.2724 0.2693 0.2621 -2 +chr1 3350396 PRDM16 C T 1 0.000998403 . . . . 6.257e-05 . UTR3 . 0.0001 6.376e-05 6.669e-05 0 +chr1 3350409 PRDM16 G A 3 0.0982428 . . . . 0.0286 . UTR3 . 0.0266 0.0277 0.0244 -2 +chr1 11905995 na C A 15 0.0221645 . . . . . . ncRNA_intronic . 0.0641 . 0.0516 -2 +chr1 11906068 NPPA A G 30 0.179113 1.595 MedGen:CN169374 not_specified Benign 0.1343 stoploss exonic . 0.1552 0.1405 0.1399 -2 +chr1 11907430 NPPA T G 2 0.000599042 -0.738 MedGen:C2677294,OMIM:612201 Atrial_fibrillation,_familial,_6 Likely_benign 0.0028 nonsynonymous_SNV exonic T 0.0028 0.0029 0.0025 0 +chr1 11907603 na G A 15 0.129593 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign 0.0753 . ncRNA_exonic . 0.0877 0.0805 0.0878 -2 +chr1 11907648 NPPA C T 8 0.0734824 0.267 . . . 0.0421 nonsynonymous_SNV exonic T 0.0471 0.0457 0.0459 -2 +chr1 26383667 TRIM63 G C 1 . . . . . 0.0002 . intronic . . 0.0002 0.0001 2 +chr1 26384973 TRIM63 G A 1 0.000199681 11.873 MeSH:D030342,MedGen:C0950123|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Inborn_genetic_diseases|Primary_familial_hypertrophic_cardiomyopathy Conflicting_interpretations_of_pathogenicity 0.0007 stopgain exonic . 0.0007 0.0005 0.0004 8 +chr1 26385003 TRIM63 T C 43 0.182308 1.211 . . . 0.2195 nonsynonymous_SNV exonic T 0.2165 0.2175 0.1920 -2 +chr1 26386751 TRIM63 G T 3 . . . . . 1.502e-05 . intronic . . 8.962e-06 . 8 +chr1 26386817 TRIM63 C T 1 . . . . . 0.0002 synonymous_SNV exonic . . 0.0001 6.67e-05 2 +chr1 26387783 TRIM63 G A 1 0.00119808 . . . . 0.0017 synonymous_SNV exonic . 0.0026 0.0021 0.0021 0 +chr1 26387820 TRIM63 G A 1 . 6.834 . . . 0.0002 nonsynonymous_SNV exonic T 0.0006 0.0003 0.0001 3 +chr1 26392824 TRIM63 C A 8 0.0183706 . . . . 0.0801 synonymous_SNV exonic . 0.0844 0.0864 0.1033 -2 +chr1 26393843 TRIM63 G A 1 0.000399361 7.006 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Likely_benign 0.0018 nonsynonymous_SNV exonic T 0.0020 0.0023 0.0015 3 +chr1 26393974 TRIM63 C T 1 0.0415335 . . . . 0.0013 synonymous_SNV exonic . 0.0010 0.0011 0.0007 -2 +chr1 74701107 TNNI3K C T 1 0.00559105 . . . . 0.0124 . UTR5 . 0.0136 0.0121 0.0129 -2 +chr1 74715119 na T A 1 . . . . . 4.55e-05 . intronic . 0.0001 0.0001 6.663e-05 4 +chr1 74737274 na C T 5 0.00579073 . . . . 0.0086 . intronic . 0.0083 0.0077 0.0054 8 +chr1 74801692 na T G 1 . . . . . . . intronic . . . . 4 +chr1 74808620 na G C 1 0.00119808 -2.697 . . . 0.0022 nonsynonymous_SNV exonic T 0.0016 0.0025 0.0025 0 +chr1 74808631 na C T 1 0.00199681 5.184 . . . 0.0019 nonsynonymous_SNV exonic T 0.0024 0.0021 0.0017 3 +chr1 74819077 na T G 222 0.939097 . . . . 0.9439 . intronic . 0.9423 0.9427 0.9419 -2 +chr1 74834656 na ATGTGTGTGGT ATGTGTGGT 2 . . . . . 0.0002 . intronic . 0.0016 0.0003 0.0001 0 +chr1 74901733 na TGTCTAC TTTTTTT 2 . . . . . . . intronic . . . . 4 +chr1 74901736 na CTAC TTTT 2 . . . . . . . intronic . . . . 4 +chr1 74901739 na CTTTTTTTTTTTTTTTTTTTTA CTTTTTTTTTTTTTTTTTTTA,TTTTTTTTTTTTTTTTTTTTTA 2 . . . . . . . intronic . . . . 4 +chr1 74901829 na A C 12 0.0776757 . . . . 0.0610 . intronic . 0.06 0.0618 0.0600 -2 +chr1 74902244 na A G 12 0.0662939 . . . . 0.0615 . intronic . 0.0619 0.0616 0.0623 -2 +chr1 74929170 na T C 4 0.0209665 4.228 . . . 0.0060 nonsynonymous_SNV exonic D 0.0037 0.0050 0.0046 1 +chr1 74954856 na CTTTTTTC CTTTTTTTC 5 0.081869 . . . . 0.0137 . intronic . 0.0168 0.0141 0.0117 -2 +chr1 74954952 na A C 2 0.00219649 . . . . 0.0073 . intronic . 0.0091 0.0080 0.0061 0 +chr1 74954971 na C G 1 0.000399361 . . . . 0.0029 . intronic . 0.0010 0.0021 0.0015 0 +chr1 74957823 na CCTTCTTCTTCTTC CCTTCTTCTTC 1 . . . . . . nonframeshift_deletion exonic . . . . 4 +chr1 74957911 na A G 1 . 5.878 . . . . nonsynonymous_SNV exonic T . . . 7 +chr1 75006027 na A G 136 0.324481 . . . . 0.5609 . intronic . 0.5560 0.5610 0.5629 -2 +chr1 75009699 na T C 1 0.0443291 . . . . 0.0006 . UTR3 . 0.0003 0.0006 0.0005 -2 +chr1 78381726 NEXN T A 1 . . . . . . . intronic . . . 0 4 +chr1 78383301 NEXN T C 1 0.000399361 . MedGen:C2751084,OMIM:613122|MedGen:C3151267,OMIM:613876|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1CC|Familial_hypertrophic_cardiomyopathy_20|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0003 synonymous_SNV exonic . 0.0005 0.0002 6.667e-05 -4 +chr1 78390821 NEXN CAAAAAGT CAAAAGT 3 0.00938498 . . . . . . intronic . 0.0251 . 0.0159 -2 +chr1 78392446 NEXN G A 41 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 +chr1 78392503 NEXN A C 1 . 2.073 . . . . nonsynonymous_SNV exonic T . . . 4 +chr1 78392589 NEXN T A 1 0.000798722 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0017 . intronic . 0.0016 0.0021 0.0017 4 +chr1 78395131 NEXN A C 2 0.00319489 3.628 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2751084,OMIM:613122|MedGen:C3151267,OMIM:613876|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1CC|Familial_hypertrophic_cardiomyopathy_20|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0028 nonsynonymous_SNV exonic T 0.0024 0.0032 0.0033 4 +chr1 78395151 NEXN G A 1 . 3.549 . . . . nonsynonymous_SNV exonic T . . . 4 +chr1 78407911 NEXN C G 4 0.00119808 . MedGen:CN169374 not_specified Benign 0.0030 . intronic . 0.0032 0.0035 0.0037 4 +chr1 78408380 NEXN G C 1 . 4.254 . . . 4.523e-05 nonsynonymous_SNV exonic T 0.0001 5.437e-05 . 4 +chr1 112319731 KCND3 G A 1 . . . . . 0 synonymous_SNV exonic . . 0 . 4 +chr1 112321032 KCND3 T A 30 0.192692 . . . . 0.1960 . intronic . 0.1974 0.1992 0.2087 -2 +chr1 112323335 KCND3 G A 1 . 4.189 MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:C4225340,OMIM:616399|MedGen:CN230736|MedGen:CN517202 Spinocerebellar_ataxia_19|Brugada_syndrome_9|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0002 nonsynonymous_SNV exonic T . 0.0001 6.665e-05 2 +chr1 112329550 KCND3 TG TT,GG 1 . . . . . . . intronic . . . . 4 +chr1 112329551 KCND3 G T 29 0.192692 . MedGen:CN169374 not_specified Benign 0.1492 . intronic . 0.1417 0.1469 0.1559 -2 +chr1 112524680 KCND3 C G 2 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 +chr1 112524698 KCND3 C T 1 0.000798722 . MedGen:CN169374 not_specified Likely_benign 3.06e-05 synonymous_SNV exonic . . 5.402e-05 0 0 +chr1 112524708 KCND3 T C 1 0.000199681 1.042 MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736 Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0004 nonsynonymous_SNV exonic D 0.0005 0.0003 0.0003 3 +chr1 112524890 KCND3 C T 1 . . MedGen:CN169374 not_specified Likely_benign 0.0001 synonymous_SNV exonic . . 0.0001 0.0001 4 +chr1 112524974 KCND3 C T 1 0.0451278 . MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736 Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype Benign 0.0008 synonymous_SNV exonic . 0.0010 0.0009 0.0011 -2 +chr1 112525085 KCND3 G A 18 0.0471246 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1233 synonymous_SNV exonic . 0.1205 0.1253 0.1178 -2 +chr1 115256406 NRAS T C 1 . . . . . . . intronic . 0.0001 . . 4 +chr1 116243868 CASQ2 A G 20 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 -2 +chr1 116243877 CASQ2 G A 95 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 -2 +chr1 116245533 CASQ2 G A 1 0.0175719 . Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374 Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified Benign/Likely_benign 0.0010 . intronic . 0.0008 0.0007 0.0007 -2 +chr1 116245655 CASQ2 G C 50 0.216054 . . . . 0.2308 . intronic . 0.2029 0.2144 0.2207 -2 +chr1 116245680 CASQ2 C T 1 . . . . . . . intronic . . . . 4 +chr1 116247790 CASQ2 G A 82 0.428714 . MedGen:CN169374 not_specified Benign 0.3086 . intronic . 0.3197 0.3113 0.2918 -2 +chr1 116247824 CASQ2 C T 2 . 4.702 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic T 0.0006 0.0006 0 0 +chr1 116247826 CASQ2 T C 1 0.000199681 5.950 MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic D . 8.961e-06 . 8 +chr1 116260532 CASQ2 A T 137 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 -2 +chr1 116260544 CASQ2 C T 65 0.250799 . . . . 0.2315 . intronic . 0.2274 0.2347 0.2379 -2 +chr1 116260570 CASQ2 T C 3 0.0199681 . . . . . . intronic . 0.0022 . 0.0007 -2 +chr1 116269700 CASQ2 T C 1 . 5.356 . . . 3.032e-05 nonsynonymous_SNV exonic D 0.0001 3.587e-05 . 10 +chr1 116269768 CASQ2 A C 1 0.00259585 . . . . 0.0061 . intronic . 0.0064 0.0057 0.0054 0 +chr1 116280971 CASQ2 G C 1 0.000199681 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified Conflicting_interpretations_of_pathogenicity 0.0003 . intronic . . 0.0003 0.0005 2 +chr1 116280980 CASQ2 C G 1 . . . . . 0.0031 . intronic . 0.0012 0.0027 0.0020 0 +chr1 116283343 CASQ2 A G 197 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 -2 +chr1 116283440 CASQ2 T C 1 . 6.362 . . . . nonsynonymous_SNV exonic D . . . 10 +chr1 116310966 CASQ2 GT GC 1 . . . . . . frameshift_deletion exonic . . . . 4 +chr1 116310967 CASQ2 TGA CGA 91 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 -2 +chr1 147230978 GJA5 G A 5 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 +chr1 156084760 LMNA C T 3 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 -6 +chr1 156084924 LMNA G A 2 . 7.100 . . . 2.488e-05 nonsynonymous_SNV exonic D . 1.93e-05 . 10 +chr1 156096612 LMNA T C 1 . . . . . 1.986e-05 synonymous_SNV exonic . . 9.573e-06 0 4 +chr1 156100467 LMNA C A 1 . 5.771 . . . . nonsynonymous_SNV exonic D . . . 10 +chr1 156104245 LMNA C T 1 0.000399361 5.482 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN517202 Primary_dilated_cardiomyopathy|not_provided Uncertain_significance 0 nonsynonymous_SNV exonic D 0.0001 8.953e-06 6.666e-05 8 +chr1 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 4 +chr1 156105028 LMNA T C 31 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 -10 +chr1 156105678 LMNA CCA CCC 3 . . . . . . . intronic\x3bintronic . . . . 8 +chr1 156105679 LMNA CA CC 4 . . . . . . . intronic\x3bintronic . . . . 8 +chr1 156105680 LMNA A C 4 . . . . . . . intronic . . . . 8 +chr1 156105704 LMNA G A 1 . 7.086 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN043576|MedGen:CN517202 Primary_dilated_cardiomyopathy|Charcot-Marie-Tooth_disease,_type_2|not_provided Pathogenic/Likely_pathogenic . nonsynonymous_SNV exonic D . . 6.669e-05 18 +chr1 156105928 LMNA G A 29 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 -6 +chr1 156106161 LMNA G A 1 . . MedGen:CN043576|MedGen:CN169374 Charcot-Marie-Tooth_disease,_type_2|not_specified Conflicting_interpretations_of_pathogenicity 0.0002 synonymous_SNV exonic . . 0.0002 0 2 +chr1 156106181 LMNA TGGAT TGGAC,GGGAT 1 . 5.610 . . . . nonsynonymous_SNV exonic D . . . 10 +chr1 156106185 LMNA T C,G 1 . 4.935 . . . 2.106e-05 nonsynonymous_SNV exonic D . 9.45e-06 . 7 +chr1 156106827 LMNA G A 1 . . MedGen:CN043576|MedGen:CN169374 Charcot-Marie-Tooth_disease,_type_2|not_specified Conflicting_interpretations_of_pathogenicity 4.513e-05 . intronic . . 2.688e-05 . 4 +chr1 156106964 LMNA C T 1 . 13.679 . . . . stopgain exonic . . . . 12 +chr1 156107534 LMNA C T 50 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 -10 +chr1 156107534 LMNA C T 8 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 -10 +chr1 156108298 LMNA C T 1 . 4.715 MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751|MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348|MedGen:CN043412|MedGen:CN043576|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1A|Familial_partial_lipodystrophy_2|Mandibuloacral_dysplasia_with_type_A_lipodystrophy,_atypical|Charcot-Marie-Tooth_disease,_type_2|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0002 nonsynonymous_SNV exonic D . 0.0001 6.675e-05 9 +chr1 156108976 LMNA G C 31 0.185304 . MedGen:CN517202 not_provided not_provided . . UTR3\x3bUTR3 . 0.0773 . 0.0708 -2 +chr1 156108976 LMNA G C 3 0.185304 . MedGen:CN517202 not_provided not_provided . . UTR3\x3bUTR3 . 0.0773 . 0.0708 -2 +chr1 156109536 LMNA G A 5 0.00319489 . . . . 0.0189 . UTR3 . . 0.0141 0.0106 -2 +chr1 162257246 NOS1AP A G 3 0.00599042 . . . . 0.0179 . intronic . 0.0174 0.0175 0.0128 -2 +chr1 162270463 NOS1AP G A 1 0.00239617 2.037 . . . 0.0038 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T 0.0043 0.0037 0.0048 0 +chr1 162302846 NOS1AP C T 1 0.00319489 . MedGen:CN517202 not_provided Benign 0.0040 synonymous_SNV exonic . 0.0041 0.0039 0.0051 0 +chr1 162313735 NOS1AP C T 90 0.430911 . . . . 0.3647 synonymous_SNV exonic . 0.3571 0.3580 0.3632 -2 +chr1 162324996 NOS1AP C T 2 0.0303514 . . . . 0.0015 synonymous_SNV exonic . 0.0017 0.0015 0.0012 -2 +chr1 162326761 NOS1AP C T 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr1 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 +chr1 162335256 NOS1AP C T 35 0.250799 . . . . 0.1195 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.1199 0.1169 0.1075 -2 +chr1 162335256 NOS1AP C T 4 0.250799 . . . . 0.1195 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.1199 0.1169 0.1075 -2 +chr1 162336953 NOS1AP C T 1 0.00499201 3.671 MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Uncertain_significance 9.072e-05 nonsynonymous_SNV exonic T 0.0002 0.0001 0.0001 0 +chr1 201328705 TNNT2 G A 6 0.0113818 . . . . 0.0364 . intronic . 0.0283 0.0301 0.0266 -2 +chr1 201328824 TNNT2 G A 24 0.277157 . MedGen:CN169374 not_specified Benign 0.1326 . intronic . 0.1020 0.0985 0.0993 -2 +chr1 201330366 TNNT2 G C 5 0.0579073 . MedGen:CN169374 not_specified Likely_benign 0.0026 . intronic . 0.0008 0.0020 0.0025 -2 +chr1 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 -6 +chr1 201331068 TNNT2 A G 1 0.000199681 5.995 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C1832243,OMIM:601494|MedGen:C1861864,OMIM:115195|MedGen:C2676271,OMIM:612422|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Left_ventricular_noncompaction_6|Familial_hypertrophic_cardiomyopathy_2|Familial_restrictive_cardiomyopathy_3|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0001 nonsynonymous_SNV exonic D 0.0002 0.0002 0.0005 12 +chr1 201331144 TNNT2 G A 1 . 6.918 . . . . nonsynonymous_SNV\x3bnonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic\x3bexonic D . . . 4 +chr1 201331231 TNNT2 G A 1 0.00339457 . . . . 0.0172 . intronic . 0.0107 0.0133 0.0132 -2 +chr1 201331240 TNNT2 C T 1 0.0341454 . . . . 0.0006 nonsynonymous_SNV exonic . . 0.0005 0.0003 -2 +chr1 201331256 TNNT2 G A 2 0.00179712 . . . . 0.0040 . intronic . 0.0013 0.0018 0.0015 0 +chr1 201334382 TNNT2 G A 166 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 -6 +chr1 201334795 TNNT2 C T 21 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 -6 +chr1 201336028 TNNT2 G C 1 0.028754 . MedGen:CN169374 not_specified Likely_benign 0.0003 . intronic . 0.0001 0.0003 0.0002 -2 +chr1 201336984 TNNT2 C T 97 0.285543 . MedGen:CN169374 not_specified Benign 0.4552 . intronic\x3bintronic . 0.4466 0.4556 0.4630 -2 +chr1 201336984 TNNT2 C T 13 0.285543 . MedGen:CN169374 not_specified Benign 0.4552 . intronic\x3bintronic . 0.4466 0.4556 0.4630 -2 +chr1 201337340 TNNT2 G A 1 . 0.566 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1832243,OMIM:601494|MedGen:C1861864,OMIM:115195|MedGen:C2676271,OMIM:612422|MedGen:CN169374|MedGen:CN221599|MedGen:CN517202 Primary_familial_hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_6|Familial_hypertrophic_cardiomyopathy_2|Familial_restrictive_cardiomyopathy_3|not_specified|Increased_left_ventricular_wall_thickness|not_provided Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic D 0.0005 0.0007 0.0005 3 +chr1 201338553 TNNT2 T C 168 0.734625 . . . . . . intronic . 0.7219 . 0.7224 -2 +chr1 201338896 TNNT2 T C 150 0.529952 . . . . 0.6175 . intronic . 0.6210 0.6161 0.6255 -2 +chr1 201339043 TNNT2 C T,A 150 0.0495208 . . . . . . intronic . . . 0.0025 -2 +chr1 201339044 TNNT2 G A 10 0.0678914 . . . . . . intronic . 0.1009 . 0.1003 -2 +chr1 201341175 TNNT2 CAGAAGAGAAGT CAGAAGT 148 0.520367 . . . . 0.6146 . intronic . . 0.6134 0.6170 -2 +chr1 201341216 TNNT2 G C 1 0.00319489 . . . . 0.0002 . intronic . 0.0001 0.0003 0.0002 0 +chr1 201341225 TNNT2 C T 1 0.00219649 . . . . 0.0065 . intronic\x3bintronic . 0.0069 0.0075 0.0063 0 +chr1 201341341 TNNT2 C T 172 0.771765 . . . . . . intronic . 0.7244 . 0.7258 -2 +chr1 201342385 TNNT2 T C 1 . 1.538 MedGen:CN169374 not_specified Likely_benign 0 . UTR5 T . 2.685e-05 6.683e-05 4 +chr1 227069677 PSEN2 T C 182 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 -6 +chr1 227069737 PSEN2 C T 142 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 -6 +chr1 227071449 PSEN2 G A 2 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 +chr1 227071469 PSEN2 C G 1 . 0.784 MedGen:CN517202 not_provided Uncertain_significance 0.0002 nonsynonymous_SNV exonic D . 0.0002 6.667e-05 5 +chr1 227071525 PSEN2 C T 142 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 -6 +chr1 227075772 PSEN2 G A 1 . . . . . 0 . intronic . . 0 . 4 +chr1 227075813 PSEN2 A G 2 0.000399361 1.890 . . . 0.0003 nonsynonymous_SNV exonic D 0.0003 0.0003 0.0004 5 +chr1 227075920 PSEN2 A G 2 0.00419329 . . . . . . intronic . 0.0113 . 0.0214 -2 +chr1 227076671 PSEN2 T C 4 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 -6 +chr1 227078955 PSEN2 T C 183 0.722843 . . . . 0.7860 . intronic . 0.7797 0.7796 0.7624 -2 +chr1 227081847 PSEN2 CCAG CCAA 6 . . . . . . . intronic\x3bintronic . . . . 12 +chr1 227081848 PSEN2 CAG CAA 2 . . . . . . . intronic\x3bintronic . . . . 4 +chr1 227081850 PSEN2 G A 137 0.574081 . . . . 0.5668 . intronic . 0.5608 0.5551 0.5390 -2 +chr1 228399479 C1orf145 ACCC ACCG,CCCC 137 . . . . . . . ncRNA_intronic . . . . 12 +chr1 228399480 C1orf145 CCC CCG 12 . . . . . . . ncRNA_intronic\x3bncRNA_intronic\x3bncRNA_intronic . . . . 12 +chr1 228399481 C1orf145 CC CG 2 . . . . . . . ncRNA_intronic\x3bncRNA_intronic\x3bncRNA_intronic . . . . 4 +chr1 228399482 C1orf145 C G 122 0.721046 . . . . 0.6207 . ncRNA_intronic . 0.6129 0.6047 0.6098 -2 +chr1 228399766 OBSCN T C 140 0.726238 . . . . 0.6233 synonymous_SNV exonic . 0.6178 0.6077 0.6101 -2 +chr1 228399799 OBSCN C T 8 0.0507188 . . . . 0.0482 synonymous_SNV exonic . 0.037 0.0415 0.0477 -2 +chr1 228399980 OBSCN G A 1 0.000399361 0.913 . . . 0.0008 nonsynonymous_SNV exonic T . 0.0015 0.0013 0 +chr1 228400152 OBSCN T G 1 . 3.598 . . . . nonsynonymous_SNV exonic T . 5.042e-05 7.028e-05 4 +chr1 228401183 OBSCN G C 1 0.000998403 4.903 . . . 0.0002 nonsynonymous_SNV exonic D . 9.569e-05 0.0002 3 +chr1 228401329 OBSCN C T 2 0.00339457 . . . . 0.0130 synonymous_SNV exonic . 0.0074 0.0074 0.0067 -2 +chr1 228401978 OBSCN G A 1 . . . . . 3.11e-05 synonymous_SNV exonic . . 5.462e-05 0.0002 4 +chr1 228402047 OBSCN A G 140 0.719848 . . . . 0.6132 synonymous_SNV exonic . 0.6095 0.6117 0.6098 -2 +chr1 228402063 OBSCN T C 1 . -1.102 . . . 4.554e-05 nonsynonymous_SNV exonic T . 6.312e-05 . 4 +chr1 228402121 OBSCN AGTT GGTT 140 0.719649 3.331 . . . 0.6122 nonsynonymous_SNV exonic T 0.6065 0.6117 0.6104 -2 +chr1 228402129 OBSCN G A 1 . 6.651 . . . 0.0004 nonsynonymous_SNV exonic D 0.0002 0.0001 . 8 +chr1 228402508 OBSCN C T 89 0.275759 . . . . 0.4016 synonymous_SNV exonic . 0.3900 0.3857 0.3888 -2 +chr1 228404198 OBSCN G A 11 0.0535144 . . . . 0.0822 synonymous_SNV exonic . 0.0367 0.0404 0.0461 -2 +chr1 228404305 OBSCN G A 2 0.00279553 -0.246 . . . 0.0171 nonsynonymous_SNV exonic T 0.0084 0.0089 0.0085 -2 +chr1 228404377 OBSCN G A 1 0.000998403 2.131 . . . 0 nonsynonymous_SNV exonic T . 5.634e-05 0 0 +chr1 228404382 OBSCN G A 1 . 1.029 . . . 9.327e-05 nonsynonymous_SNV exonic T 0.0001 2.862e-05 . 4 +chr1 228404777 OBSCN C T 1 . 0.550 . . . 3.055e-05 nonsynonymous_SNV exonic T 0.0001 8.998e-05 . 4 +chr1 228404997 OBSCN C T 7 0.0169728 . . . . 0.0407 . intronic . 0.0401 0.0415 0.0410 -2 +chr1 228407010 OBSCN C T 90 0.285343 . . . . 0.4470 . intronic . . 0.3863 0.3856 -2 +chr1 228407059 OBSCN G T 7 0.0135783 . . . . 0.0377 synonymous_SNV exonic . . 0.0369 0.0370 -2 +chr1 228407260 OBSCN G A 90 0.277157 . . . . 0.4158 synonymous_SNV exonic . . 0.3813 0.3852 -2 +chr1 228407265 OBSCN G A 2 0.0429313 0.971 . . . 0.0358 nonsynonymous_SNV exonic . . 0.0266 0.0339 -2 +chr1 228412227 OBSCN TG CA,CG 2 0.41254 . . . . 0.3914 synonymous_SNV exonic . . 0.3905 0.3890 -2 +chr1 228412308 OBSCN G A 93 0.41254 . . . . 0.3933 synonymous_SNV exonic . 0.3925 0.3930 0.3944 -2 +chr1 228412370 OBSCN C T 1 0.00179712 1.159 . . . 3.013e-05 nonsynonymous_SNV exonic T . 2.692e-05 0 0 +chr1 228430865 OBSCN T G 1 0.00798722 . . . . 0.0001 . intronic . . 7.499e-05 6.659e-05 0 +chr1 228431095 OBSCN A G 144 0.616613 . . . . 0.6797 synonymous_SNV exonic . 0.6828 0.6767 0.6910 -2 +chr1 228432108 OBSCN C A,T 144 0.000399361 0.991 . . . 5.994e-05 nonsynonymous_SNV exonic T 0.0002 7.162e-05 6.663e-05 10 +chr1 228432264 OBSCN A T 8 0.0171725 0.066 . . . 0.0425 nonsynonymous_SNV exonic T 0.0401 0.0419 0.0395 -2 +chr1 228433171 OBSCN C T 1 0.000798722 0.182 . . . 0.0009 nonsynonymous_SNV exonic T 0.0005 0.0007 0.0005 0 +chr1 228433217 OBSCN A G 144 0.616613 . . . . 0.6794 synonymous_SNV exonic . 0.6825 0.6768 0.6913 -2 +chr1 228433346 OBSCN C T 2 0.0587061 . . . . 0.0039 synonymous_SNV exonic . 0.0028 0.0033 0.0029 -2 +chr1 228434322 OBSCN A G 1 . 2.410 . . . 2.998e-05 nonsynonymous_SNV exonic T . 1.791e-05 . 4 +chr1 228434395 OBSCN T C 144 0.617612 . . . . 0.6794 synonymous_SNV exonic . 0.6833 0.6768 0.6906 -2 +chr1 228434420 OBSCN G T 1 . 1.831 . . . 3e-05 nonsynonymous_SNV exonic T . 1.791e-05 . 4 +chr1 228434467 OBSCN T C,G 1 . . . . . . synonymous_SNV exonic . . 0 . 4 +chr1 228437772 OBSCN G A 1 0.0611022 . . . . 0.0028 synonymous_SNV exonic . 0.0025 0.0027 0.0026 -2 +chr1 228444385 OBSCN T C 2 0.0157748 -3.108 . . . 0.0015 nonsynonymous_SNV exonic T 0.0015 0.0016 0.0009 -2 +chr1 228444565 OBSCN T A 230 1 0.030 . . . 1 nonsynonymous_SNV exonic T . 1 1 -2 +chr1 228447315 OBSCN TGGTACAAGGACG TG 1 . . . . . . frameshift_deletion exonic . . . . 4 +chr1 228447457 OBSCN C G 1 . 2.368 . . . . nonsynonymous_SNV exonic T . . . 4 +chr1 228447463 OBSCN G A 6 0.00239617 0.355 . . . 0.0133 nonsynonymous_SNV exonic T 0.0110 0.0120 0.0103 -2 +chr1 228447490 OBSCN G A 2 0.0153754 . . . . 0.0016 . intronic . 0.0013 0.0016 0.0009 -2 +chr1 228451826 OBSCN C T 52 0.30631 0.352 . . . 0.2922 nonsynonymous_SNV exonic T 0.2810 0.2892 0.3003 -2 +chr1 228451850 OBSCN C T 1 . -0.663 . . . 1.504e-05 nonsynonymous_SNV exonic T . 1.791e-05 . 4 +chr1 228452016 OBSCN G C 7 0.00399361 -1.319 . . . 0.0190 nonsynonymous_SNV exonic T 0.0195 0.0186 0.0189 -2 +chr1 228452032 OBSCN G A 2 0.0571086 3.095 . . . 0.0043 nonsynonymous_SNV exonic T 0.0044 0.0042 0.0031 -2 +chr1 228459861 OBSCN C T 1 . . . . . 0 synonymous_SNV exonic . . 0 6.669e-05 4 +chr1 228461097 OBSCN C G 5 0.00219649 1.035 . . . 0.0079 nonsynonymous_SNV exonic T . 0.0074 0.0097 8 +chr1 228461129 OBSCN A G 152 0.69349 -0.541 . . . 0.6973 nonsynonymous_SNV exonic T 0.6953 0.6933 0.7098 -2 +chr1 228461187 OBSCN T C 5 0.00958466 . . . . 0.0226 synonymous_SNV exonic . 0.0250 0.0219 0.0200 -2 +chr1 228461200 OBSCN A G 1 . 3.916 . . . . nonsynonymous_SNV exonic T . 8.985e-06 . 4 +chr1 228461757 OBSCN G A 52 0.206669 . . . . 0.1897 . intronic . 0.1774 0.1830 0.1770 -2 +chr1 228461767 OBSCN C T 1 . . . . . 0.0002 . intronic . . 0.0001 6.677e-05 2 +chr1 228461999 OBSCN C T 2 0.000399361 1.078 . . . 0.0014 nonsynonymous_SNV exonic T 0.0014 0.0014 0.0009 0 +chr1 228462520 OBSCN C T 1 0.00179712 . . . . 0.0006 synonymous_SNV exonic . 0.0002 0.0005 0.0007 0 +chr1 228464246 OBSCN GAT GAG 2 . . . . . . frameshift_deletion exonic . . . . 4 +chr1 228464248 OBSCN T G 150 0.695487 -0.460 . . . 0.6998 nonsynonymous_SNV exonic T 0.6965 0.6944 0.7121 -2 +chr1 228464255 OBSCN T C 2 0.00259585 4.777 . . . 0.0115 nonsynonymous_SNV exonic T 0.0109 0.0105 0.0102 -2 +chr1 228464276 OBSCN T C 152 0.663538 -0.742 . . . 0.6993 nonsynonymous_SNV exonic T 0.6960 0.6931 0.7115 -2 +chr1 228464303 OBSCN G T 9 0.00459265 1.771 . . . 0.0290 nonsynonymous_SNV exonic T 0.0278 0.0253 0.0274 -2 +chr1 228464633 OBSCN C G 1 0.00299521 2.771 . . . 0.0069 nonsynonymous_SNV exonic T 0.0026 0.0010 0.0007 0 +chr1 228464713 OBSCN G A 1 . . . . . 0.0004 synonymous_SNV exonic . 0.0005 0.0001 6.688e-05 0 +chr1 228464841 OBSCN TC TG 2 . . . . . . . intronic . . . . 4 +chr1 228464842 OBSCN C G 149 0.69369 . . . . 0.7158 . intronic . 0.6953 0.6887 0.7050 -2 +chr1 228465031 OBSCN G A 1 0.000399361 . . . . 0.0031 . intronic . 0.0022 0.0030 0.0018 0 +chr1 228465346 OBSCN A G 89 0.330072 3.591 . . . 0.5114 nonsynonymous_SNV exonic . . 0.3862 0.3808 -2 +chr1 228465359 OBSCN G A 1 . 5.982 . . . 0.0001 nonsynonymous_SNV exonic . . 3.278e-05 . 7 +chr1 228465370 OBSCN T G 146 0.669529 . . . . 0.7351 . intronic . . 0.6986 0.7141 -2 +chr1 228465427 OBSCN G A 1 0.00259585 . . . . 6.294e-05 . intronic . . 7.216e-05 6.671e-05 0 +chr1 228466650 OBSCN G A 1 0.000199681 5.169 . . . 0.0001 nonsynonymous_SNV exonic T . 6.316e-05 0 5 +chr1 228466862 OBSCN C T 8 0.0421326 . . . . 0.0370 . intronic . 0.0331 0.0355 0.0363 -2 +chr1 228466908 OBSCN G A 1 . 4.883 . . . . nonsynonymous_SNV exonic T . . . 4 +chr1 228467072 OBSCN C G 1 0.00299521 . . . . 0.0132 synonymous_SNV exonic . 0.0101 0.0124 0.0206 -2 +chr1 228467095 OBSCN T C,G 1 . 3.503 . . . . nonsynonymous_SNV exonic T . . . 4 +chr1 228467162 OBSCN C T 2 0.0255591 . . . . 0.0017 . intronic . 0.0018 0.0018 0.0012 -2 +chr1 228467711 OBSCN G A 9 0.0836661 3.250 . . . 0.0370 nonsynonymous_SNV exonic T 0.0184 0.0218 0.0221 -2 +chr1 228467881 OBSCN G A 1 0.000599042 . . . . 0.0005 synonymous_SNV exonic . 0.0002 0.0003 6.682e-05 0 +chr1 228468161 OBSCN G A 1 . . . . . 5.497e-05 . intronic . . 1.951e-05 . 4 +chr1 228468244 OBSCN G A 9 0.113618 . . . . 0.0230 synonymous_SNV exonic . 0.0183 0.0219 0.0225 -2 +chr1 228468458 OBSCN G A 57 0.31889 1.572 . . . 0.3115 nonsynonymous_SNV exonic T 0.2785 0.3061 0.3193 -2 +chr1 228469801 OBSCN G C 5 0.0111821 5.043 . . . 0.0216 nonsynonymous_SNV exonic T 0.0219 0.0211 0.0214 1 +chr1 228469870 OBSCN C T 9 0.0872604 2.777 . . . 0.0222 nonsynonymous_SNV exonic T 0.0178 0.0210 0.0217 -2 +chr1 228469903 OBSCN AG TT 2 . . . . . . nonframeshift_substitution exonic . . . . 4 +chr1 228470995 OBSCN G T 56 0.318091 . . . . 0.3709 . intronic . 0.2859 0.2972 0.3185 -2 +chr1 228471247 OBSCN G A 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr1 228471294 OBSCN C T 1 . 0.639 . . . 0.0004 nonsynonymous_SNV exonic T 0.0005 0.0004 0.0004 0 +chr1 228471379 OBSCN G C 85 0.230232 . . . . 0.3727 synonymous_SNV exonic . 0.3681 0.3719 0.3705 -2 +chr1 228474032 OBSCN G A 1 0.00958466 . . . . 0.0081 synonymous_SNV exonic . 0.0028 0.0012 0.0009 0 +chr1 228475456 OBSCN C T 1 . . . . . 0.0002 synonymous_SNV exonic . 0.0001 0.0002 0.0002 2 +chr1 228475848 OBSCN G A 55 0.302716 4.107 . . . 0.3041 nonsynonymous_SNV exonic T 0.2973 0.3017 0.3168 -2 +chr1 228476018 OBSCN C T 1 . . . . . 4.548e-05 synonymous_SNV exonic . . 3.684e-05 . 4 +chr1 228476366 OBSCN GA TT 9 . . . . . . nonframeshift_substitution exonic . . . . 12 +chr1 228476414 OBSCN G A 9 0.0938498 . . . . 0.0225 synonymous_SNV exonic . 0.0186 0.0218 0.0224 -2 +chr1 228476420 OBSCN C T 1 0.000199681 . . . . 0.0028 synonymous_SNV exonic . 0.0039 0.0028 0.0027 0 +chr1 228476484 OBSCN G A 1 0.00798722 6.121 . . . 0.0001 nonsynonymous_SNV exonic D . 8.056e-05 6.669e-05 6 +chr1 228479664 OBSCN T C 1 . . . . . 0.0002 synonymous_SNV exonic . 0.0002 0.0002 0.0002 2 +chr1 228479825 OBSCN C T 2 0.000399361 . . . . 0.0016 synonymous_SNV exonic . 0.0021 0.0017 0.0011 0 +chr1 228480282 OBSCN A G 152 0.698882 . . . . 0.7029 synonymous_SNV exonic . 0.7022 0.6999 0.7148 -2 +chr1 228480317 OBSCN C T 1 0.00738818 5.205 . . . 7.492e-05 nonsynonymous_SNV exonic T . 7.161e-05 6.673e-05 3 +chr1 228480335 OBSCN G T 1 . 5.443 . . . 5.993e-05 nonsynonymous_SNV exonic D . 7.161e-05 6.668e-05 10 +chr1 228480382 OBSCN G A 2 . 5.585 . . . 0 nonsynonymous_SNV exonic D . 8.952e-06 0 10 +chr1 228480441 OBSCN G A 1 0.00958466 . . . . 0.0030 synonymous_SNV exonic . 0.0032 0.0012 0.0009 0 +chr1 228481046 OBSCN TCCCCCA TCCCCCCA 1 . . . . . 7.728e-05 . intronic . . 6.335e-05 . 4 +chr1 228481854 OBSCN C T 1 0.000199681 . . . . 0.0006 synonymous_SNV exonic . 0.0004 0.0003 0.0003 0 +chr1 228481917 OBSCN G A 5 0.00878594 . . . . 0.0193 synonymous_SNV exonic . 0.0229 0.0188 0.0157 -2 +chr1 228482010 OBSCN C T 90 0.381989 . . . . 0.4961 synonymous_SNV exonic . 0.4953 0.497 0.5212 -2 +chr1 228482028 OBSCN G C 53 0.21246 . . . . 0.1837 synonymous_SNV exonic . 0.1766 0.1808 0.1697 -2 +chr1 228482059 OBSCN G A 2 0.00798722 5.747 . . . 0.0327 nonsynonymous_SNV exonic T 0.0421 0.0352 0.0357 1 +chr1 228482569 OBSCN G A 5 0.0127796 . . . . 0.0324 synonymous_SNV exonic . 0.0324 0.0338 0.0346 -2 +chr1 228486404 OBSCN C T 49 0.165935 0.548 . . . 0.1816 nonsynonymous_SNV exonic T 0.1788 0.1769 0.1673 -2 +chr1 228487176 OBSCN CATG CG 1 . . . . . 0.0003 frameshift_deletion exonic . . 0.0003 0.0003 2 +chr1 228487677 OBSCN C G 1 . . . . . 1.581e-05 synonymous_SNV exonic . . 9.158e-06 . 4 +chr1 228487853 OBSCN A G 2 0.033746 . . . . 0.0018 . intronic . 0.0015 0.0018 0.0011 -2 +chr1 228491633 OBSCN G A 9 0.052516 0.427 . . . 0.0391 nonsynonymous_SNV exonic T 0.0397 0.0372 0.0372 -2 +chr1 228492044 OBSCN G A 91 0.369209 . . . . 0.4986 synonymous_SNV exonic . 0.4905 0.4974 0.5219 -2 +chr1 228492069 OBSCN C T 1 . . . . . 4.52e-05 synonymous_SNV exonic . . 5.379e-05 . 4 +chr1 228492220 OBSCN C T 7 0.00539137 2.422 . . . 0.0176 nonsynonymous_SNV exonic T 0.0158 0.0179 0.0175 -2 +chr1 228494209 OBSCN T C 1 0.000599042 . . . . 0.0016 synonymous_SNV exonic . 0.0010 0.0016 0.0011 0 +chr1 228494216 OBSCN C T 2 0.000399361 2.032 . . . 0.0015 nonsynonymous_SNV exonic T 0.0013 0.0014 0.0008 0 +chr1 228494357 OBSCN C T 49 0.166733 . . . . 0.1894 . intronic . 0.1716 0.1765 0.1683 -2 +chr1 228494696 OBSCN G A 60 0.308506 . . . . 0.2636 synonymous_SNV exonic . 0.1945 0.2031 0.1925 -2 +chr1 228494790 OBSCN G A 91 0.26857 2.944 . . . 0.4976 nonsynonymous_SNV exonic T 0.4939 0.4972 0.5210 -2 +chr1 228495983 OBSCN G A 1 . 2.180 . . . 0.0023 nonsynonymous_SNV exonic T 0.0017 0.0025 0.0018 0 +chr1 228496013 OBSCN C T 2 0.000599042 4.963 . . . 0.0007 nonsynonymous_SNV exonic T 0.0001 0.0006 0.0003 0 +chr1 228496014 OBSCN G A 51 0.213059 . . . . 0.2152 synonymous_SNV exonic . 0.1772 0.1819 0.1705 -2 +chr1 228496023 OBSCN C T 1 0.000199681 . . . . 0.0007 synonymous_SNV exonic . 0.0001 0.0005 0.0003 0 +chr1 228496066 OBSCN G T 2 0.00638978 4.677 . . . 0.0628 nonsynonymous_SNV exonic T 0.0313 0.0418 0.0431 -2 +chr1 228497271 OBSCN C A 1 0.000599042 . . . . 0.0032 . intronic . 0.0041 0.0026 0.0030 0 +chr1 228497286 OBSCN C A 9 0.0932508 . . . . 0.0227 . intronic . 0.0188 0.0218 0.0224 -2 +chr1 228503566 OBSCN G A 2 0.033746 1.362 . . . 0.0021 nonsynonymous_SNV exonic T 0.0017 0.0018 0.0013 -2 +chr1 228503580 OBSCN G A 1 . 3.941 . . . . nonsynonymous_SNV exonic T . 0 . 4 +chr1 228503677 OBSCN A G 152 0.700879 -2.279 . . . 0.7111 nonsynonymous_SNV exonic T 0.7056 0.6950 0.7144 -2 +chr1 228503711 OBSCN G A 4 0.0129792 . . . . 0.0523 synonymous_SNV exonic . 0.0327 0.0380 0.0432 -2 +chr1 228504472 OBSCN T C 152 0.699281 -1.304 . . . 0.7040 nonsynonymous_SNV exonic T 0.7008 0.6982 0.7147 -2 +chr1 228504507 OBSCN G T 2 0.00499201 . . . . 0.0256 synonymous_SNV exonic . 0.0203 0.0220 0.0176 -2 +chr1 228504574 OBSCN G A 1 0.00519169 1.672 . . . 0.0001 nonsynonymous_SNV exonic T 0.0001 9.653e-05 0 0 +chr1 228504591 OBSCN C A 49 0.145367 1.476 . . . 0.2674 nonsynonymous_SNV exonic T 0.1672 0.1833 0.1681 -2 +chr1 228504669 OBSCN G A 49 0.145567 . . . . 0.2135 synonymous_SNV exonic . 0.1453 0.1818 0.1725 -2 +chr1 228504670 OBSCN C T 91 0.330272 3.693 . . . 0.5071 nonsynonymous_SNV exonic T 0.4398 0.4992 0.5236 -2 +chr1 228504701 OBSCN GCT GCTCCCT 151 . . . . . . . intronic . . . . 12 +chr1 228505204 OBSCN GCA ACA 60 0.315296 3.357 . . . 0.2095 nonsynonymous_SNV exonic T 0.1944 0.2031 0.1924 -2 +chr1 228505235 OBSCN A G 1 . . . . . 0.0003 synonymous_SNV exonic . 0.0005 0.0004 0.0004 0 +chr1 228505257 OBSCN G A 1 0.000399361 3.689 . . . 0.0008 nonsynonymous_SNV exonic T 0.0006 0.0005 0.0002 0 +chr1 228505326 OBSCN C A 1 . 4.051 . . . . nonsynonymous_SNV exonic T . 0 . 4 +chr1 228505431 OBSCN C T 1 0.00738818 . . . . 7.817e-05 synonymous_SNV exonic . . 7.511e-05 6.674e-05 0 +chr1 228505667 OBSCN TC TG 2 . . . . . . frameshift_deletion exonic . . . . 4 +chr1 228505668 OBSCN C G 150 0.699281 0.755 . . . 0.7027 nonsynonymous_SNV exonic T 0.7016 0.6997 0.7146 -2 +chr1 228505699 OBSCN T C 152 0.705871 . . . . 0.7045 synonymous_SNV exonic . 0.7008 0.7007 0.7147 -2 +chr1 228505727 OBSCN C T 9 0.086262 2.382 . . . 0.0226 nonsynonymous_SNV exonic T 0.0186 0.0218 0.0222 -2 +chr1 228505739 OBSCN G A 49 0.173123 0.313 . . . 0.1804 nonsynonymous_SNV exonic T 0.1735 0.1780 0.1681 -2 +chr1 228506649 OBSCN G A 1 . . . . . 0 synonymous_SNV exonic . . 0 . 4 +chr1 228506661 OBSCN G A 10 0.0107827 . . . . 0.0592 synonymous_SNV exonic . 0.0230 0.0234 0.0184 -2 +chr1 228509427 OBSCN A G 152 0.684704 -0.311 . . . 0.7021 nonsynonymous_SNV exonic T 0.6968 0.6995 0.7147 -2 +chr1 228509681 OBSCN G T 1 0.000599042 3.543 . . . 0.0009 nonsynonymous_SNV exonic T 0.0019 0.0010 0.0026 0 +chr1 228509797 OBSCN G A 1 . . . . . 1.644e-05 synonymous_SNV exonic . . 9.161e-06 . 4 +chr1 228520597 OBSCN C T 1 . 7.382 . . . 0.0002 nonsynonymous_SNV exonic T 0.0006 0.0003 0.0003 3 +chr1 228520880 OBSCN C T 75 0.341853 . . . . 0.4551 . intronic . 0.4158 0.4122 0.4488 -2 +chr1 228520972 OBSCN CC CG 2 . . . . . . frameshift_deletion exonic . . . . 4 +chr1 228520973 OBSCN C G 72 0.335064 1.995 . . . 0.4651 nonsynonymous_SNV exonic T 0.4179 0.4187 0.4485 -2 +chr1 228522483 OBSCN C T 8 0.034345 . . . . 0.0484 . intronic . 0.0328 0.0369 0.0369 -2 +chr1 228522776 OBSCN C A 2 0.0357428 . . . . 0.0040 . intronic . 0.0017 0.0019 0.0011 -2 +chr1 228523005 OBSCN TGGGGGT TGGGGGGT,TGGGGGG 2 . . . . . . . intronic . 0.1070 . . -2 +chr1 228523011 OBSCN T G 8 . . . . . . . intronic . . 0.0333 0 -2 +chr1 228523447 OBSCN TG CA,CG 8 0.813498 . . . . 0.8273 . intronic . 0.8251 0.8253 0.8306 -2 +chr1 228523476 OBSCN C T 1 . . . . . . . intronic . . 8.953e-06 . 4 +chr1 228523602 OBSCN C T 2 0.0447284 . . . . 0.0019 . intronic . 0.0023 0.0019 0.0014 -2 +chr1 228523618 OBSCN G A 101 0.474241 . . . . . . intronic . 0.5195 . 0.5431 -2 +chr1 228523866 OBSCN C G 1 0.00119808 . . . . 0.0047 . intronic . 0.0031 0.0039 0.0021 0 +chr1 228524756 OBSCN T C 3 0.000399361 5.525 . . . 0.0015 nonsynonymous_SNV exonic T 0.0017 0.0017 0.0011 7 +chr1 228524961 OBSCN C A 74 0.239816 . . . . 0.4306 synonymous_SNV exonic . 0.4226 0.4274 0.4482 -2 +chr1 228525008 OBSCN G A 40 0.0766773 4.879 . . . 0.1499 nonsynonymous_SNV exonic T 0.1356 0.1403 0.1305 -2 +chr1 228525627 OBSCN C A 74 0.240216 . . . . 0.4565 . intronic . 0.4221 0.4218 0.4463 -2 +chr1 228525823 OBSCN C T 2 0.000998403 6.985 . . . 0.0004 nonsynonymous_SNV exonic T 0.0004 0.0007 0.0005 3 +chr1 228526011 OBSCN C T 38 0.117612 . . . . 0.1745 synonymous_SNV exonic . 0.1578 0.1490 0.1545 -2 +chr1 228526087 OBSCN G A 1 . . . . . 0.0001 . intronic . . 6.554e-05 0 4 +chr1 228526578 OBSCN T A 6 0.00439297 4.894 . . . 0.0137 nonsynonymous_SNV exonic T 0.0095 0.0104 0.0106 -2 +chr1 228526619 OBSCN G A 2 0.000399361 3.667 . . . 0.0008 nonsynonymous_SNV exonic T 0.0001 0.0005 0.0005 0 +chr1 228526665 OBSCN T C,G 2 . . . . . . synonymous_SNV exonic . . . . 4 +chr1 228526742 OBSCN CCACACACACACACACACACACACACACACACACACG CCACACACACACACACACACACACACACACACACG,CCACACACACACACACACACACACACACACACACACACG,CCACACACACACACACACACACACACACACACG,CCACACACACACACACACACACACACACACACACACACACACG,CCACACACACACACACACACACACACACACACACACACACG 2 . . . . . 0.1081 . intronic . . 0.1567 0.0823 -2 +chr1 228528185 OBSCN C T 1 . . . . . 0 . intronic . . 0 . 4 +chr1 228528410 OBSCN TCG TCA 2 . . . . . . . intronic . . . . 4 +chr1 228528412 OBSCN G A 74 0.351837 . . . . 0.4383 . intronic . 0.4247 0.4300 0.4487 -2 +chr1 228528563 OBSCN CA GA 104 0.538738 0.194 . . . 0.5577 nonsynonymous_SNV exonic T 0.5203 0.5185 0.5473 -2 +chr1 228528940 OBSCN C T 1 . 6.618 . . . . nonsynonymous_SNV exonic T . 0 . 7 +chr1 228529119 OBSCN CAC CAAC 2 0.0363419 . . . . 0.0020 . intronic . 0.0021 0.0018 0.0012 -2 +chr1 228529129 OBSCN C A 26 0.138179 . . . . 0.1101 . intronic . 0.0945 0.0990 0.1036 -2 +chr1 228529848 OBSCN C T 1 0.0185703 . . . . 3.356e-05 synonymous_SNV exonic . 0.0002 5.842e-05 0.0003 -2 +chr1 228538568 OBSCN C G 2 0.00119808 5.894 . . . 0.0038 nonsynonymous_SNV exonic T 0.0041 0.0027 0.0022 3 +chr1 228538625 OBSCN G A 1 . 0.772 . . . 1.56e-05 nonsynonymous_SNV exonic T . . 6.671e-05 4 +chr1 228538668 OBSCN AT GT 2 . . . . . . . intronic . . . . 4 +chr1 228540724 OBSCN G A 1 . 4.994 . . . . nonsynonymous_SNV exonic T . . . 4 +chr1 228543800 OBSCN C T 29 0.172125 . . . . . . intronic . 0.0899 . 0.0976 -2 +chr1 228547511 OBSCN G A 2 0.0469249 . . . . 0.0038 synonymous_SNV exonic . 0.0024 0.0022 0.0022 -2 +chr1 228547647 OBSCN A G 1 . 0.103 . . . . nonsynonymous_SNV exonic T . . . 4 +chr1 228547769 OBSCN C T 6 0.00479233 . . . . 0.0176 synonymous_SNV exonic . 0.0106 0.0103 0.0110 -2 +chr1 228547900 OBSCN AC AT,CC 6 . -0.179 . . . . nonsynonymous_SNV exonic T . . . 12 +chr1 228547901 OBSCN C T 75 0.298722 . . . . 0.2981 synonymous_SNV exonic . 0.3011 0.2996 0.2846 -2 +chr1 228548116 OBSCN C A 2 0.0357428 1.109 . . . 0.0019 nonsynonymous_SNV exonic T 0.0018 0.0018 0.0012 -2 +chr1 228548197 OBSCN G A 28 0.147764 -0.089 . . . 0.0996 nonsynonymous_SNV exonic T 0.0857 0.0907 0.0958 -2 +chr1 228548288 OBSCN T A,G 28 . . . . . . synonymous_SNV exonic . . . . 12 +chr1 228550344 OBSCN G A 4 0.000199681 . . . . 0.0008 synonymous_SNV exonic . 0.0007 0.0007 0.0005 4 +chr1 228550425 OBSCN GC GT 1 . . . . . . frameshift_deletion exonic . . . . 4 +chr1 228550426 OBSCN C T 27 0.146965 -0.124 . . . 0.1364 nonsynonymous_SNV exonic T 0.0834 0.0910 0.0959 -2 +chr1 228550429 OBSCN C T 9 0.0443291 0.627 . . . 0.0622 nonsynonymous_SNV exonic T 0.0362 0.0374 0.0360 -2 +chr1 228553245 OBSCN C T 2 . . . . . . synonymous_SNV exonic . . 1.842e-05 . 4 +chr1 228554558 OBSCN C T 1 . . . . . . synonymous_SNV exonic . . 1.452e-05 . 4 +chr1 228554691 OBSCN C T 1 . . . . . 0.0001 synonymous_SNV exonic . . 4.893e-05 0.0001 4 +chr1 228555672 OBSCN GCC GC 1 . . . . . . . intronic . . . . 4 +chr1 228556014 OBSCN C T 2 0.00159744 . . . . 0.0023 . intronic . 0.0011 0.0010 0.0011 0 +chr1 228556781 OBSCN C T 1 0.033746 . . . . . . intronic . 0.0006 . 0.0027 -2 +chr1 228556788 OBSCN C T 86 0.320487 . . . . 0.3910 . intronic . 0.3585 0.3722 0.3616 -2 +chr1 228557681 OBSCN G A 1 . 7.200 . . . 0.0002 nonsynonymous_SNV exonic T 0.0004 0.0001 6.693e-05 5 +chr1 228557938 OBSCN T C 1 . 4.882 . . . 9.236e-05 nonsynonymous_SNV exonic T . 0.0001 0.0001 4 +chr1 228558849 OBSCN C T 2 0.00519169 . . . . 0.0018 synonymous_SNV exonic . 0.0018 0.0015 0.0009 0 +chr1 228558892 OBSCN C T 15 0.033746 6.518 . . . 0.0775 nonsynonymous_SNV exonic T 0.0650 0.0658 0.0713 1 +chr1 228558952 OBSCN T G 1 0.00219649 2.292 . . . 0.0158 nonsynonymous_SNV exonic T 0.0103 0.0092 0.0119 -2 +chr1 228558992 OBSCN CCAG CG 1 0.00199681 . . . . 0.0099 frameshift_deletion exonic . 0.0038 0.0051 0.0090 0 +chr1 228559263 OBSCN C T 1 0.000399361 . . . . 9.929e-05 synonymous_SNV exonic . . 2.647e-05 0 2 +chr1 228559386 OBSCN G A 2 0.122204 . . . . 0.0026 synonymous_SNV exonic . 0.0034 0.0018 0.0020 -2 +chr1 228559430 OBSCN G A 6 0.0217652 -0.220 . . . 0.0364 nonsynonymous_SNV exonic T 0.0309 0.0366 0.0372 -2 +chr1 228559654 OBSCN G A 8 0.00499201 1.765 . . . 0.0156 nonsynonymous_SNV exonic T 0.0152 0.0137 0.0112 -2 +chr1 228559957 OBSCN G A 1 . 2.980 . . . 6.692e-05 nonsynonymous_SNV exonic T 0.0002 0.0001 6.675e-05 2 +chr1 228559966 OBSCN CC CT 1 . . . . . . frameshift_deletion exonic . . . . 4 +chr1 228559967 OBSCN C T 5 0.00499201 2.939 . . . 0.0326 nonsynonymous_SNV exonic T 0.0136 0.0139 0.0110 -2 +chr1 228559994 OBSCN CGA TGA 126 0.589058 2.792 . . . 0.5975 nonsynonymous_SNV exonic T 0.5033 0.5120 0.4981 -2 +chr1 228560137 OBSCN TCA TCG,GCA 126 . 2.951 . . . . nonsynonymous_SNV exonic T . . . 12 +chr1 228560138 OBSCN CA CG 22 . . . . . . frameshift_deletion\x3bframeshift_deletion exonic\x3bexonic . . . . 12 +chr1 228560139 OBSCN A G 179 0.974241 . . . . 0.9239 synonymous_SNV exonic . 0.9259 0.9205 0.9202 -2 +chr1 228560447 OBSCN T C 1 . 3.513 . . . 4.965e-05 nonsynonymous_SNV exonic T 0.0002 5.412e-05 0 2 +chr1 228560592 OBSCN A G 1 0.000199681 . . . . 0.0007 synonymous_SNV exonic . 0.0005 0.0004 6.678e-05 0 +chr1 228560700 OBSCN T C 160 0.757987 . . . . 0.5550 synonymous_SNV exonic . 0.5485 0.5490 0.5350 -2 +chr1 228562031 OBSCN G A 2 0.0145767 . . . . 0.0027 synonymous_SNV exonic . 0.0012 0.0014 0.0009 -2 +chr1 228562350 OBSCN T C 7 0.00519169 . . . . 0.0261 synonymous_SNV exonic . 0.0280 0.0253 0.0283 -2 +chr1 228562413 OBSCN G A 1 . . . . . 7.747e-05 synonymous_SNV exonic . . 7.208e-05 6.676e-05 4 +chr1 228562438 OBSCN G A 1 0.000199681 -0.095 . . . 0.0002 nonsynonymous_SNV exonic T . 0.0002 6.684e-05 2 +chr1 228563773 OBSCN C T 1 0.000199681 . . . . 0.0006 synonymous_SNV exonic . 0.0007 0.0004 0.0003 0 +chr1 228564601 OBSCN C T 1 0.123802 . . . . 0.0038 . intronic . 0.0027 0.0016 0.0015 -2 +chr1 228564602 OBSCN G A 2 0.0145767 . . . . 0.0021 . intronic . 0.0014 0.0018 0.0010 -2 +chr1 228564884 OBSCN G A 30 0.140775 1.749 . . . 0.1419 nonsynonymous_SNV exonic T 0.0847 0.0935 0.0981 -2 +chr1 228565208 OBSCN C T 4 0.0117812 . . . . 0.0437 synonymous_SNV exonic . 0.0354 0.0385 0.0430 -2 +chr1 228565209 OBSCN G A 2 0.00179712 7.258 . . . 0.0019 nonsynonymous_SNV exonic T 0.0010 0.0010 0.0004 3 +chr1 228565266 OBSCN C T 1 . -0.434 . . . 3.063e-05 nonsynonymous_SNV exonic T . 1.793e-05 . 4 +chr1 228565329 OBSCN G A 2 0.00499201 3.334 . . . 0.0222 nonsynonymous_SNV exonic T 0.0231 0.0225 0.0180 -2 +chr1 228566084 OBSCN G A 1 . 6.597 . . . 0.0003 nonsynonymous_SNV exonic T . 0.0003 0.0002 5 +chr1 229567660 ACTA1 CGGCGGGGAGC CGGGCGGGGAGC,CGGGGGGGGAGC 1 . . MedGen:CN169374 not_specified Benign . . intronic . . . . 4 +chr1 229567663 ACTA1 CGG GGG,CGGG 1 . . . . . . . intronic . . . . 4 +chr1 229568632 ACTA1 A G 53 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 -2 +chr1 229568637 ACTA1 C G 51 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 -2 +chr1 236849952 ACTN2 C T 7 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 -6 +chr1 236882303 ACTN2 T C 230 0.992612 . MedGen:CN169374 not_specified Benign 0.9999 synonymous_SNV exonic . 0.9998 1.0000 1 -2 +chr1 236883421 ACTN2 C T 230 0.920727 . MedGen:CN169374 not_specified Benign 0.9953 synonymous_SNV exonic . 0.9953 0.9951 0.9949 -2 +chr1 236891098 ACTN2 G A 1 0.000599042 . . . . 0.0016 . intronic . 0.0013 0.0015 0.0009 0 +chr1 236894647 ACTN2 G A 74 0.491613 . . . . 0.3134 . intronic . 0.3102 0.3086 0.2938 -2 +chr1 236899042 ACTN2 G A 29 0.195887 . MedGen:CN169374 not_specified Benign 0.1386 . intronic . 0.1356 0.1341 0.1276 -2 +chr1 236900554 ACTN2 C T 10 0.00539137 . . . . 0.0236 . intronic . 0.0266 0.0230 0.0231 -2 +chr1 236902592 ACTN2 TGC TGG 2 . . . . . . . intronic\x3bintronic . . . . 4 +chr1 236902593 ACTN2 GC GG 24 . . . . . . . intronic\x3bintronic . . . . 12 +chr1 236902594 ACTN2 C G 159 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 -6 +chr1 236907966 ACTN2 G A 7 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 -6 +chr1 236911012 ACTN2 G A 1 . . 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 0.0010 synonymous_SNV exonic . 0.0005 0.0009 0.0013 4 +chr1 236914754 ACTN2 T C 1 0.00119808 . MedGen:C2677338,OMIM:612158|MedGen:CN169374 Dilated_cardiomyopathy_1AA|not_specified Benign 0.0018 . intronic . 0.0014 0.0019 0.0013 -8 +chr1 236917274 ACTN2 C A 1 . 2.155 . . . . nonsynonymous_SNV exonic T . . . 4 +chr1 236917283 ACTN2 C T 2 . 14.373 . . . . stopgain exonic . . . . 12 +chr1 236917318 ACTN2 T G 2 . . . . . . synonymous_SNV exonic . . . . 4 +chr1 236917330 ACTN2 GTT GTG 2 . . . . . . frameshift_deletion exonic . . . . 4 +chr1 236924298 ACTN2 T C 1 0.0275559 . MedGen:CN169374 not_specified Benign 2.997e-05 . intronic . . 8.056e-05 6.662e-05 -2 +chr1 236925844 ACTN2 G A 39 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 -6 +chr1 237205892 RYR2 G A 1 0.000998403 . . . . 0.0018 . intronic . 0.0016 0.0015 0.0022 0 +chr1 237494291 RYR2 C T 2 . . . . . 6.004e-05 . intronic . . 5.376e-05 . 4 +chr1 237519223 RYR2 ATTTGTTTGTTTGT ATTTGTTTGTTTGTTTGT 1 . . . . . . . intronic . . . . 4 +chr1 237527615 RYR2 G A 2 0.00459265 . . . . 0.0021 . intronic . 0.0009 0.0006 0.0007 0 +chr1 237527741 RYR2 G T 1 0.00239617 . . . . . . intronic . . . 0 0 +chr1 237540615 RYR2 A C 53 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 -2 +chr1 237551376 RYR2 T A 115 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 -2 +chr1 237551439 RYR2 G C 1 . 3.463 . . . . nonsynonymous_SNV exonic T . . . 4 +chr1 237586384 RYR2 T C 36 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 -2 +chr1 237608842 RYR2 C T 5 0.00658946 . MedGen:CN169374 not_specified Benign 0.0077 . intronic . 0.0060 0.0084 0.0077 8 +chr1 237617757 RYR2 C T 123 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 -2 +chr1 237619874 RYR2 GATTTTTTTTTTTTTTAACG GATTTTTTTTTTTTTTTAACG,TATTTTTTTTTTTTTTAACG 123 . . . . . . . intronic . . . . 12 +chr1 237619875 RYR2 ATTTTTTTTTTTTTTAACG ATTTTTTTTTTTTTAACG,ATTTTTTTTTTTTTTTAACG,ATTTTTTTTTTTTAACG,TTTTTTTTTTTTTTTAACG 123 0.0115815 . . . . . . intronic . . . . -2 +chr1 237620034 RYR2 G A 1 0.0599042 . 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 0.0009 synonymous_SNV exonic . 0.0012 0.0008 0.0012 -2 +chr1 237620049 RYR2 T C 113 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 -2 +chr1 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 -2 +chr1 237656289 RYR2 C T 4 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 -2 +chr1 237664004 RYR2 C G 3 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 -2 +chr1 237670140 RYR2 A G 153 0.699481 . MedGen:CN169374 not_specified Benign 0.6691 . intronic . 0.6578 0.6648 0.6682 -2 +chr1 237674973 RYR2 C G 1 . . . . . . . intronic . . . . 4 +chr1 237675119 RYR2 C A 2 . . . . . . . intronic . . . . 4 +chr1 237711797 RYR2 A G 215 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 -2 +chr1 237730032 RYR2 A G 1 0.000599042 6.511 EFO:EFO_0004278,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN517202 Sudden_cardiac_death|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic T 0.0008 0.0007 0.0008 3 +chr1 237730059 RYR2 C T 4 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 -2 +chr1 237753074 RYR2 ATTTTTTTTTTCTTCCCA ATTTTTTTTTCTTCCCA 96 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 -2 +chr1 237755076 RYR2 A G 7 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 -2 +chr1 237765297 RYR2 A T 1 . . . . . . . intronic . . . . 4 +chr1 237765333 RYR2 G A 1 0.00119808 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0021 synonymous_SNV exonic . 0.0016 0.0014 0.0018 0 +chr1 237774051 RYR2 C T 3 0.0638978 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0016 . intronic . 0.0012 0.0006 0.0008 -2 +chr1 237774057 RYR2 G C 3 0.0171725 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0014 . intronic . 0.0007 0.0005 0.0006 -2 +chr1 237777429 RYR2 T C 1 . . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0002 synonymous_SNV exonic . . 0.0001 0.0001 2 +chr1 237777828 RYR2 A G 1 0.0623003 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0007 synonymous_SNV exonic . 0.0013 0.0007 0.0003 -2 +chr1 237778082 RYR2 G A 5 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 -2 +chr1 237778084 RYR2 G A 8 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 -2 +chr1 237780626 RYR2 G A 1 . 4.322 MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Uncertain_significance 9.761e-05 nonsynonymous_SNV exonic T . 3.601e-05 0.0002 4 +chr1 237780671 RYR2 C T 1 . 3.786 . . . 3.012e-05 nonsynonymous_SNV exonic T 0.0001 8.975e-06 . 4 +chr1 237780695 RYR2 T G 1 . 4.681 MedGen:CN169374 not_specified Uncertain_significance 6.004e-05 nonsynonymous_SNV exonic T . 5.385e-05 . 4 +chr1 237787132 RYR2 A T 1 . 2.144 . . . . nonsynonymous_SNV exonic T . . . 4 +chr1 237787196 RYR2 TTATTAATTGT TT 1 . . . . . . . intronic . . . . 4 +chr1 237794696 RYR2 C G 1 . . . . . . . intronic . . . . 4 +chr1 237801770 RYR2 T C 230 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 -2 +chr1 237801796 RYR2 G A 1 0.0145767 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0007 . intronic . 0.0007 0.0007 0.0003 -2 +chr1 237804317 RYR2 G T 1 . . . . . 1.999e-05 . intronic . . 0 . 4 +chr1 237811766 RYR2 C T 3 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 +chr1 237811889 RYR2 C T 1 0.00139776 . MedGen:C0003811,OMIM:115000|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Cardiac_arrhythmia|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0061 synonymous_SNV exonic . 0.0052 0.0045 0.0057 0 +chr1 237814783 RYR2 C T 98 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 -2 +chr1 237823256 RYR2 A C 15 0.0407348 . MedGen:CN169374 not_specified Benign 0.0776 . intronic . 0.0530 0.0532 0.0522 -2 +chr1 237829825 RYR2 C T 1 . 2.980 . . . 3.657e-05 nonsynonymous_SNV exonic D . 3.612e-05 0 7 +chr1 237829952 RYR2 G A 1 0.00119808 . . . . . . intronic . 0.0041 . 0.0023 0 +chr1 237838001 RYR2 G A 1 0.00179712 . . . . 0.0142 . intronic . 0.0079 0.0103 0.0134 -2 +chr1 237841390 RYR2 A G 70 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 -2 +chr1 237843729 RYR2 G C 1 . . . . . 0.0002 . intronic . 0.0001 0.0002 0 2 +chr1 237850716 RYR2 C T 1 0.00139776 . . . . 0.0084 . intronic . 0.0064 0.0050 0.0042 0 +chr1 237850816 RYR2 C T 1 0.000399361 . MedGen:CN169374 not_specified Benign 0.0025 . intronic . 0.0024 0.0023 0.0020 0 +chr1 237850825 RYR2 A T 1 . . . . . 0.0014 . intronic . . 0.0009 0.0006 0 +chr1 237850826 RYR2 TAC TAAC 2 0.00119808 . . . . 0.0038 . intronic . 0.0032 0.0032 0.0033 0 +chr1 237863717 RYR2 CT CG 20 . . . . . . frameshift_deletion exonic . . . . 12 +chr1 237863718 RYR2 T G 210 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 -2 +chr1 237872887 RYR2 T C 15 0.00938498 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Uncertain_significance 0.0186 . intronic . 0.0166 0.0153 0.0114 -2 +chr1 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 0 +chr1 237875068 RYR2 C T 2 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 0 +chr1 237881770 RYR2 C T 230 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 -2 +chr1 237886514 RYR2 G A 1 0.00159744 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0003 synonymous_SNV exonic . 0.0006 0.0003 0.0001 0 +chr1 237890437 RYR2 C T 230 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 -2 +chr1 237893674 RYR2 CT TT 230 0.985224 . MedGen:CN169374 not_specified Benign 0.9999 . intronic . 0.9998 0.9998 0.9998 -2 +chr1 237905568 RYR2 TCCTTTTTTTTTTTTTTTAAATATACA TCCCTTTTTTTTTTTTTTTAAATATACA,TCCCTTTTTTTTTTTTTTAAATATACA,TCCTTTTTTTTTTTTTTTTAAATATACA,TCCTTTTTTTTTTTTTTAAATATACA 230 . . MedGen:CN169374 not_specified Likely_benign 0.2724 . intronic\x3bintronic\x3bintronic . . . 0.0087 -2 +chr1 237905569 RYR2 CCTTTTTTTTTTTTTTTAAATATACA CCTTTTTTTTTTTTTTAAATATACA,ACTTTTTTTTTTTTTTTAAATATACA,TCTTTTTTTTTTTTTTTAAATATACA 230 . . . . . . . intronic . . . . 12 +chr1 237905570 RYR2 CTTTTTTTTTTTTTTTA CTTTTTTTTTTTTTTTTA,CTTTTTTTTTTTTTTA 230 . . MedGen:CN169374 not_specified Likely_benign 0.2724 . intronic\x3bintronic\x3bintronic . . . 0.0087 -2 +chr1 237905571 RYR2 T C 7 . . MedGen:CN169374 not_specified Benign 0.1644 . intronic\x3bintronic . . 0.0948 0.0051 -2 +chr1 237919725 RYR2 T G 2 0.00239617 . . . . 0.0065 . intronic . 0.0091 0.0076 0.0082 0 +chr1 237923053 RYR2 C T 158 0.761581 . MedGen:CN169374 not_specified Benign 0.6849 . intronic . 0.6923 0.6833 0.6808 -2 +chr1 237923081 RYR2 G A 1 . 4.805 . . . . nonsynonymous_SNV exonic D . . . 7 +chr1 237924352 RYR2 G A 2 . . . . . 0 . intronic . . 3.068e-05 6.661e-05 4 +chr1 237934206 RYR2 C T 1 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 -2 +chr1 237941945 RYR2 G A 19 0.0445288 . MedGen:CN169374 not_specified Likely_benign 0.0427 . intronic . 0.0458 0.0452 0.0483 -2 +chr1 237942082 RYR2 AACTGC AC 14 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 -2 +chr1 237946964 RYR2 T C 67 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 -2 +chr1 237947000 RYR2 C T 14 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 -2 +chr1 237947244 RYR2 C A 1 . -0.415 . . . 4.639e-05 nonsynonymous_SNV exonic T . 3.625e-05 . 4 +chr1 237947781 RYR2 C T 1 . 12.220 . . . 3.074e-05 stopgain exonic . 0.0001 9.073e-06 . 12 +chr1 237948286 RYR2 A G 8 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 -2 +chr1 237951451 RYR2 A G 122 0.636581 . MedGen:CN169374 not_specified Benign 0.5490 . intronic . 0.5443 0.5343 0.5375 -2 +chr1 237957146 RYR2 G A 143 0.734026 . MedGen:CN169374 not_specified Benign 0.6639 . intronic . 0.6579 0.6539 0.6755 -2 +chr1 237957161 RYR2 A G 146 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 -2 +chr1 237957309 RYR2 A C 137 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 -2 +chr1 237965123 RYR2 A G 1 0.000199681 . . . . 1.633e-05 . intronic . . 9.555e-06 0 2 +chr1 237965131 RYR2 GCATTTTTTTTTTTTGTCATTG ACATTTTTTTTTTTTGTCATTG,ACATTTTTTTTTTTTTGTCATTG,ACATTTTTTTTTTTTTTGTCATTG,GCATTTTTTTTTTTGTCATTG,TCATTTTTTTTTTTTGTCATTG 1 . . . . . . . intronic . . . . 4 +chr1 237965133 RYR2 ATTTTTTTTTTTTGTCATTG ATTTTTTTTTTTTTGTCATTG,ATTTTTTTTTTTGTCATTG 1 . . MedGen:CN169374 not_specified Benign/Likely_benign 0.1446 . intronic\x3bintronic . . 0.1302 0.0033 -2 +chr1 237972189 RYR2 A G 6 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 8 +chr1 237991767 RYR2 T C 5 0.00938498 . . . . 0.0111 . intronic . 0.0072 0.0091 0.0082 -2 +chr1 237993798 RYR2 C T 4 0.00159744 . . . . 0.0040 . intronic . 0.0037 0.0033 0.0029 4 +chr1 237993877 RYR2 G C 1 . . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0001 synonymous_SNV exonic . . 0.0001 0.0001 4 +chr1 237993968 RYR2 T C 1 0.00599042 . . . . 0.0005 . intronic . 0.0006 0.0004 6.66e-05 0 +chr1 237995837 RYR2 C G 3 0.00179712 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181|MedGen:CN517202 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC|not_provided Benign/Likely_benign 0.0083 . intronic . 0.0107 0.0087 0.0089 -2 +chr10 18430167 CACNB2 G C 1 0.00798722 . . . . 0.0366 . intronic . 0.0274 0.0172 0.0139 -2 +chr10 18430220 CACNB2 G A 36 0.107628 . . . . . . intronic . . . 0.1135 -2 +chr10 18439810 CACNB2 AGTCA TGTCA,TTTTT 36 . . . . . . frameshift_substitution exonic . . . . 12 +chr10 18439811 CACNB2 G T 5 . 4.792 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance . . splicing . . 0.0004 0.0024 18 +chr10 18439813 CACNB2 CA TA,AA,TT 5 . . . . . . nonframeshift_substitution exonic . . . . 12 +chr10 18439925 CACNB2 GT GC,TT 5 . . . . . . . intronic . . . . 12 +chr10 18439926 CACNB2 T C 17 0.0632987 . . . . 0.1292 . intronic . 0.1213 0.1275 0.1093 -2 +chr10 18629941 CACNB2 G A 2 0.000798722 . . . . 0.0044 . intronic . 0.0057 0.0054 0.0045 0 +chr10 18789724 CACNB2 T G 85 0.229832 . MedGen:C2678477,OMIM:611876|MedGen:CN169374 Brugada_syndrome_4|not_specified Benign 0.3240 . intronic . 0.3157 0.3230 0.3179 -2 +chr10 18795447 CACNB2 G C 1 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 0 +chr10 18816565 CACNB2 G A 6 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 +chr10 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 +chr10 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 +chr10 18828371 CACNB2 C T 28 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 +chr10 18828426 CACNB2 C G 1 . 5.821 . . . . nonsynonymous_SNV exonic D . 0 . 10 +chr10 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 +chr10 18828630 CACNB2 AGGGAT AGGGAG,TGGGAT,CGGGAT 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr10 18828635 CACNB2 T G 45 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 -2 +chr10 18828661 CACNB2 CCG CCT 6 . . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance 3.196e-05 . UTR3\x3bUTR3 . . 0 . 12 +chr10 18828662 CACNB2 CG CT 4 . . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance 3.196e-05 . UTR3\x3bUTR3 . . 0 . 8 +chr10 18828663 CACNB2 G T 107 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 -2 +chr10 18828666 CACNB2 TGTGTTTTTTTTTTTTTTTTTTTGAAGTC GGTGTTTTTTTTTTTTTTTTTTGAAGTC 2 . . . . . . . UTR3 . . . . 4 +chr10 18828669 CACNB2 GTTTTTTTTTTTTTTTTTTTG GTTTTTTTTTTTTTTTTG,GCTTTTTTTTTTTTTTTTTTG 2 0.0756789 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Likely_benign 0.2713 . UTR3\x3bUTR3 . . 0.0916 0.1957 -2 +chr10 18828670 CACNB2 T C 2 0.0756789 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Likely_benign 0.2713 . UTR3\x3bUTR3 . . 0.0916 0.1957 -2 +chr10 21074724 NEBL T C 22 0.0666933 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0737 synonymous_SNV exonic . 0.0762 0.0734 0.0776 -2 +chr10 21076100 NEBL C A 3 0.221845 . . . . 0.0298 . intronic . 0.0238 0.0213 0.0177 -2 +chr10 21101816 NEBL G A 1 . . . . . 3.001e-05 synonymous_SNV exonic . . 1.793e-05 . 4 +chr10 21106525 NEBL A G 1 0.000798722 . MedGen:CN169374 not_specified Conflicting_interpretations_of_pathogenicity 0.0002 . intronic . 0.0002 0.0003 6.66e-05 0 +chr10 21108377 NEBL C T 44 0.183706 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2958 synonymous_SNV exonic . 0.2952 0.2986 0.3057 -2 +chr10 21112111 NEBL A T 64 0.302117 . . . . 0.3146 . intronic . 0.2187 0.2795 0.2738 -2 +chr10 21112137 NEBL A T 5 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 -2 +chr10 21115347 NEBL A G 5 0.00559105 . . . . 0.0126 . intronic . 0.0131 0.0121 0.0096 -2 +chr10 21120116 NEBL A G 102 0.46905 . MedGen:CN169374 not_specified Benign 0.3503 . intronic . 0.3458 0.3524 0.3394 -2 +chr10 21134282 NEBL C G 39 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 1 +chr10 21139389 NEBL T C 39 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 -2 +chr10 21141440 NEBL AGGGAGGGT AGGAGGGT 62 0.252796 . . . . 0.2575 . intronic . 0.2555 0.2637 0.2586 -2 +chr10 21141469 NEBL T C 230 0.952476 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.9993 . intronic . 0.9994 0.9994 0.9997 -2 +chr10 21147144 NEBL G A 5 0.0543131 . . . . 0.0073 . intronic . 0.0052 0.0064 0.0065 -2 +chr10 21157673 NEBL C T,A 5 . 10.623 . . . . stopgain exonic . . . . 20 +chr10 21169720 NEBL T C 1 0.00179712 . 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 Conflicting_interpretations_of_pathogenicity 0.0045 . intronic . 0.0040 0.0047 0.0052 4 +chr10 21177128 NEBL G C 3 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 16 +chr10 21177143 NEBL GAAAAAAAAACAGGAAAAAAATAAATAAATAAACTT GAAAAAAAAACAGGAAAAAATAAATAAATAAACTT,TAAAAAAAAACAGGAAAAAAATAAATAAATAAACTT 3 . . . . . . . intronic . . . . 8 +chr10 21177156 NEBL GAAAAAAATAAATAAATAAACTT GAAAAAATAAATAAATAAACTT 126 0.540535 . . . . 0.6507 . intronic\x3bintronic . 0.6444 0.6390 0.6549 -2 +chr10 21178792 NEBL G A 1 . . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Likely_benign 0.0003 synonymous_SNV exonic . . 0.0003 6.665e-05 -2 +chr10 21178889 NEBL G T 3 0.00119808 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0047 . intronic . 0.0070 0.0055 0.0044 4 +chr10 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 -8 +chr10 21461410 NEBL GAAAAAAAAAAAAAACATTTAAAAATACAG GAAAAAAAAAAAAACATTTAAAAATACAG,AAAAAAAAAAAAAAACATTTAAAAATACAG,TAAAAAAAAAAAAAACATTTAAAAATACAG,GAAAAAAAAAAAAAAACATTTAAAAATACAG 1 0.353634 . MedGen:CN169374 not_specified not_provided 0.2116 . intronic . . 0.2908 0.2007 -2 +chr10 21462769 NEBL G A 1 0.0163738 . MedGen:CN169374 not_specified Benign 0.0044 . UTR5 . 0.0052 0.0047 0.0033 -2 +chr10 21462805 NEBL C A 1 . . . . . 5.427e-05 . UTR5 . . 5.957e-05 0.0001 4 +chr10 67726514 CTNNA3 A C 67 0.352636 . MedGen:CN169374 not_specified Benign 0.3036 . intronic . 0.3110 0.3028 0.3127 -2 +chr10 67862992 CTNNA3 C T 1 0.000399361 6.023 MedGen:C3810138,OMIM:615616|MedGen:CN517202 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13|not_provided Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic T 0.0007 0.0010 0.0007 3 +chr10 68040240 CTNNA3 G T 10 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 +chr10 68040325 CTNNA3 C T 97 0.485024 0.202 . . . 0.3747 nonsynonymous_SNV exonic T 0.3621 0.3655 0.3892 -2 +chr10 68040380 CTNNA3 C G 2 . 5.286 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Uncertain_significance 6.056e-05 . splicing . 0.0001 4.555e-05 6.675e-05 12 +chr10 68138902 CTNNA3 T C 1 . . . . . 0.0003 . intronic . 0.0002 0.0002 0.0001 2 +chr10 68139039 CTNNA3 G A 2 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 -2 +chr10 68280359 CTNNA3 A G 1 0.0401358 . . . . 0.0002 . intronic . . 0.0002 0.0005 -2 +chr10 68280453 CTNNA3 T A 2 0.000599042 1.014 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Likely_benign 0.0013 nonsynonymous_SNV exonic T 0.0015 0.0018 0.0015 0 +chr10 68979348 CTNNA3 T C 3 0.0323482 . . . . 0.0011 . intronic . 0.0010 0.0011 0.0009 -2 +chr10 68979411 CTNNA3 G A 1 . -0.583 . . . . nonsynonymous_SNV exonic T . 8.958e-06 . 4 +chr10 69281585 CTNNA3 A C 21 0.187101 . . . . 0.1131 . intronic . 0.1113 0.1108 0.1357 -2 +chr10 69281701 CTNNA3 A T 10 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 -2 +chr10 69281732 CTNNA3 A G 24 0.0593051 . MedGen:CN169374 not_specified Benign 0.0535 . intronic . 0.0592 0.0553 0.0539 -2 +chr10 69299372 CTNNA3 T G 7 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 +chr10 69299446 CTNNA3 T A 37 0.195487 . MedGen:CN169374 not_specified Benign 0.1056 . intronic . 0.1024 0.1047 0.0960 -2 +chr10 69366602 CTNNA3 T C 68 0.529952 . MedGen:CN169374 not_specified Benign 0.2901 . intronic . 0.2893 0.2871 0.2905 -2 +chr10 69881837 MYPN T C 1 . . . . . 2.999e-05 synonymous_SNV exonic . . 2.688e-05 . 4 +chr10 69896557 MYPN G C 1 0.00139776 . . . . . . intronic . . . 0 0 +chr10 69905257 MYPN C T 1 0.000998403 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0023 synonymous_SNV exonic . 0.0035 0.0028 0.0024 -4 +chr10 69905300 MYPN G A 29 0.295927 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign 0.0783 . intronic . 0.0807 0.0778 0.0747 -10 +chr10 69908113 MYPN C T 6 0.00339457 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0073 synonymous_SNV exonic . 0.0087 0.0078 0.0068 4 +chr10 69908157 MYPN T C 7 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 -10 +chr10 69908241 MYPN G A 20 0.121605 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign 0.0618 . intronic . 0.0643 0.0608 0.0557 -10 +chr10 69909802 MYPN G A 30 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 -2 +chr10 69909844 MYPN C A 2 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 -4 +chr10 69909899 MYPN G A 31 0.14996 . . . . 0.0893 . intronic . 0.0826 0.0860 0.0803 -2 +chr10 69921472 MYPN T A 1 0.000399361 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign/Likely_benign 0.0010 . intronic . 0.0007 0.0007 0.0002 -4 +chr10 69925596 MYPN G C 1 0.00199681 . MedGen:C3714995,OMIM:615248 Dilated_cardiomyopathy_1KK Benign 0.0119 . intronic . 0.0095 0.0116 0.0118 -10 +chr10 69926097 MYPN TA CA 143 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 -2 +chr10 69926319 MYPN C A 46 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 -2 +chr10 69926324 MYPN CC CT 2 . . . . . . frameshift_deletion exonic . . . . 4 +chr10 69926325 MYPN C T 49 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 -2 +chr10 69926334 MYPN C G 92 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 -2 +chr10 69926385 MYPN C T 1 0.000599042 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0012 synonymous_SNV exonic . 0.0007 0.0010 0.0011 -4 +chr10 69933890 MYPN C G 1 . -0.209 . . . . nonsynonymous_SNV exonic T . . . 4 +chr10 69933921 MYPN G A 90 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 -2 +chr10 69933969 MYPN G A 90 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 -2 +chr10 69934012 MYPN C A 5 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 -10 +chr10 69934258 MYPN C G 106 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 -2 +chr10 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 -10 +chr10 69935235 MYPN T C 230 0.982428 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign 0.9996 . intronic . 0.9990 0.9997 0.9997 -10 +chr10 69948844 MYPN T C 230 0.984625 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.9997 synonymous_SNV exonic . 0.9994 0.9999 0.9998 -2 +chr10 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 -10 +chr10 69957222 MYPN G A 1 . 8.057 MedGen:C3714995,OMIM:615248 Dilated_cardiomyopathy_1KK Uncertain_significance 1.5e-05 nonsynonymous_SNV exonic T . 5.375e-05 0.0001 7 +chr10 69959174 MYPN C T 3 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 +chr10 69959241 MYPN CC CA 2 . . . . . . frameshift_deletion exonic . . . . 4 +chr10 69959242 MYPN C A 92 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 -7 +chr10 69959345 MYPN GCTGGGAC GC 94 . . . . . . . intronic . . . . 12 +chr10 75830501 VCL C T 1 . 12.748 MedGen:CN169374 not_specified Uncertain_significance 1.498e-05 stopgain exonic . . 1.793e-05 . 12 +chr10 75849851 VCL G A 1 . 3.794 MedGen:C1969639,OMIM:611407 Dilated_cardiomyopathy_1W Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic T . 4.48e-05 6.661e-05 4 +chr10 75849921 VCL T C 3 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 +chr10 75854083 VCL C T 6 0.0696885 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0060 synonymous_SNV exonic . 0.0062 0.0052 0.0037 -6 +chr10 75854182 VCL G A 6 0.0694888 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0062 synonymous_SNV exonic . 0.0062 0.0051 0.0037 -6 +chr10 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 4 +chr10 75863620 VCL C G 1 . 3.464 . . . . nonsynonymous_SNV exonic T . . . 4 +chr10 75865065 VCL G A 147 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 -6 +chr10 75871735 VCL C G 194 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 -6 +chr10 75874667 VCL A T 2 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 4 +chr10 88439933 LDB3 G A 1 0.000399361 . . . . 1.587e-05 . intronic . . 1.804e-05 0 2 +chr10 88441198 LDB3 C T 1 . . . . . 1.575e-05 synonymous_SNV exonic . . 9.246e-06 . 4 +chr10 88441336 LDB3 C T 2 0.000199681 . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0040 synonymous_SNV exonic . 0.0027 0.0031 0.0025 0 +chr10 88441404 LDB3 G A 1 . -0.488 MedGen:CN169374 not_specified Uncertain_significance 1.563e-05 nonsynonymous_SNV exonic T 0.0001 9.025e-06 0 4 +chr10 88445385 LDB3 G C 177 0.624201 . MedGen:CN169374 not_specified Benign 0.7452 . intronic . 0.7528 0.7447 0.7454 -2 +chr10 88446811 LDB3 G A 7 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 -6 +chr10 88446830 LDB3 G A 1 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 4 +chr10 88446985 LDB3 T C 7 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 -6 +chr10 88447027 LDB3 T C 2 0.00339457 . 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 Conflicting_interpretations_of_pathogenicity 0.0056 synonymous_SNV exonic . 0.0036 0.0048 0.0044 4 +chr10 88447036 LDB3 G A 1 . . 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 Conflicting_interpretations_of_pathogenicity 7.53e-05 . intronic . . 6.287e-05 . 8 +chr10 88458996 LDB3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG TTCTCTCTCTCTCTCTCTCTCTCTG,TTCTCTCTCTCTCTCTCTCTCTCTCTCTG,TTCTCTCTCTCTCTCTCTCTCTCTCTG 1 0.109824 . MedGen:CN169374 not_specified Benign/Likely_benign 0.1476 . intronic . . 0.1547 0.0808 -2 +chr10 88459095 LDB3 T C 1 . . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912 Myofibrillar_myopathy,_ZASP-related Likely_benign 1.501e-05 synonymous_SNV exonic . . 2.688e-05 . 4 +chr10 88466465 LDB3 C T 7 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 -2 +chr10 88469744 LDB3 GCCCCTG GCCCTG 1 . . . . . . frameshift_deletion exonic . . 9.04e-06 . 4 +chr10 88476200 LDB3 G C 2 . 1.192 . . . . nonsynonymous_SNV exonic T . 0 . 4 +chr10 88476217 LDB3 A C 1 . . . . . . synonymous_SNV exonic . . 0 . 4 +chr10 88476505 LDB3 C T 1 . . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Likely_benign 0.0012 synonymous_SNV exonic . 0.0007 0.0009 0.0051 0 +chr10 88485931 LDB3 C T 2 0.00139776 . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0039 synonymous_SNV exonic . 0.0043 0.0048 0.0046 0 +chr10 88492621 LDB3 C T 1 . . . . . 0 . intronic . . 0 6.663e-05 4 +chr10 92675322 ANKRD1 G A 2 0.000199681 4.179 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Gene:6893,Human_Phenotype_Ontology:HP:0005160,MedGen:C0036400,OMIM:106700,Orphanet:ORPHA185|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN119551|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Total_anomalous_pulmonary_venous_return|Primary_familial_hypertrophic_cardiomyopathy|ANKRD1-related_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0048 nonsynonymous_SNV exonic T 0.0058 0.0035 0.0026 4 +chr10 92675649 ANKRD1 GAAAACG GAAACG 46 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 -6 +chr10 92678738 ANKRD1 AAAATAAATAAATATATATATATATATATATATATAG AAAATATATATATATATATATATATATATATATAG,AAAATATATATATATATATATATATATAG 46 . . Gene:6893,Human_Phenotype_Ontology:HP:0005160,MedGen:C0036400,OMIM:106700,Orphanet:ORPHA185|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN119551|MedGen:CN169374|MedGen:CN239310 Total_anomalous_pulmonary_venous_return|Cardiomyopathy|ANKRD1-related_dilated_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.1255 . intronic . . 0.0657 0.0093 2 +chr10 92678740 ANKRD1 AATAAATAAATATATATATATATATATATATATAG AATATATATATATATATATATATATATATATATAG,AATATATATATATATAG,AATATATATAG,AATATATATATATATATATATATATATATATAG,AATATATGTATATATAG,AATATATATATATATATATATATATATAG 46 . . Gene:6893,Human_Phenotype_Ontology:HP:0005160,MedGen:C0036400,OMIM:106700,Orphanet:ORPHA185|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Total_anomalous_pulmonary_venous_return|Cardiomyopathy|not_specified Benign 0.0427 . intronic\x3bintronic . . 0.0303 0.0447 -2 +chr10 92678742 ANKRD1 TAAATAAATATATATATATATATATATATATAG TATATATATATATATATATATATATATATATAG,TATATATATATATATATATATATATAG 46 . . Gene:6893,Human_Phenotype_Ontology:HP:0005160,MedGen:C0036400,OMIM:106700,Orphanet:ORPHA185|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Total_anomalous_pulmonary_venous_return|Cardiomyopathy|not_specified Benign 0.0427 . intronic\x3bintronic . . 0.0303 0.0447 -2 +chr10 92678744 ANKRD1 AATAAATATATATATATATATATATATATAG TATATATATATATATATATATATATATATAG,TATGTATATATATATATATATATATATATAG,TATAAATATATATATATATATATATATATAG 46 0.810104 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0120 . intronic . . 0.0017 0.0083 -6 +chr10 92678748 ANKRD1 A T 1 0.784545 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.0429 . intronic . . 0.0085 0.0626 -2 +chr10 92678760 ANKRD1 TAT GAG 1 . . . . . . . intronic . . . . 4 +chr10 92678765 ANKRD1 A G 97 0.441094 . . . . 0.6758 . intronic . . 0.6641 0.5462 -2 +chr10 101473218 COX15 A G 199 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 -2 +chr10 101473302 COX15 A G 1 . . . . . . . UTR3 . . . . 4 +chr10 101474340 COX15 A C 1 . . . . . 1.499e-05 . UTR3 . . 9.162e-06 . 4 +chr10 101474499 COX15 T C 48 0.233427 . . . . 0.2828 . intronic . 0.2957 0.2904 0.3256 -2 +chr10 101491829 COX15 C A 1 0.00638978 . MedGen:CN169374 not_specified Benign 0.0004 . UTR5 . 0.0005 0.0003 0.0003 0 +chr10 112404302 RBM20 GGCGT AGCGT 35 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 -6 +chr10 112540883 RBM20 ACCCCCCA ACCCCCCCA 1 . . . . . . frameshift_insertion exonic . . . . 4 +chr10 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 -3 +chr10 112541506 RBM20 G A 1 . 2.886 MedGen:C2750995,OMIM:613172 Dilated_cardiomyopathy_1DD Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 1.782e-05 . 4 +chr10 112543217 RBM20 G A 162 0.788139 . . . . 0.7966 . intronic . 0.7879 0.7960 0.8062 -2 +chr10 112544063 RBM20 A C 127 0.633986 . . . . 0.5824 . intronic . 0.5698 0.5772 0.5783 -2 +chr10 112544125 RBM20 C T 1 0.00199681 3.738 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0095 nonsynonymous_SNV exonic T 0.0104 0.0078 0.0063 2 +chr10 112544655 RBM20 C T 37 0.164137 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2137 . intronic . 0.2200 0.2240 0.2270 -6 +chr10 112570130 RBM20 G C 8 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 -6 +chr10 112570243 RBM20 T C 95 0.316494 . . . . 0.3895 . intronic . 0.3755 0.3846 0.3705 -2 +chr10 112572458 RBM20 G C 230 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 -6 +chr10 112572527 RBM20 G A 1 . 6.711 . . . . nonsynonymous_SNV exonic D . 1.728e-05 . 10 +chr10 112581138 RBM20 A G 1 0.000399361 4.173 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2750995,OMIM:613172|MedGen:CN169374 Cardiomyopathy|Dilated_cardiomyopathy_1DD|not_specified Uncertain_significance 0.0001 nonsynonymous_SNV exonic D . 0.0002 0.0002 5 +chr10 112581683 RBM20 G A 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr10 112583189 RBM20 CTTTTTTTTTTTTTTTTTTTTTTTTTTTG CTTTTTTTTTTTTTTG,CTTTTTTTTTTTTTG 1 . . . . . 0.1866 . intronic . . 0.1871 0.1368 -2 +chr10 112583218 RBM20 C T 2 . . MedGen:CN169374 not_specified Benign 0.0025 . intronic . . 0.0028 0.0066 0 +chr10 112590810 RBM20 G C 230 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 -6 +chr10 112595719 RBM20 G C 201 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 -3 +chr10 121411171 BAG3 G A 1 0.000199681 . MedGen:CN169374|MedGen:CN239310|MedGen:CN239446 not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign 0.0052 . UTR5 . 0.0037 0.0040 0.0035 -4 +chr10 121429394 BAG3 G A 5 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 -6 +chr10 121429633 BAG3 T C 40 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 -10 +chr10 121429645 BAG3 G A 1 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 -4 +chr10 121432002 BAG3 A G 1 . 4.801 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified Uncertain_significance 6.021e-05 nonsynonymous_SNV exonic T 0.0001 3.594e-05 . 4 +chr10 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 2 +chr10 121432089 BAG3 A T 1 . 5.939 . . . 0 nonsynonymous_SNV exonic D . 0 0 10 +chr10 121436068 BAG3 T G 20 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 -10 +chr10 121436286 BAG3 C T 20 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 -10 +chr10 121436362 BAG3 A G 195 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 -10 +chr11 534197 HRAS C T 6 0.0766773 . MedGen:CN169374 not_specified Benign 0.0401 . intronic . 0.0431 0.0417 0.0474 -2 +chr11 534242 HRAS A G 89 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 -2 +chr11 534332 HRAS G A 20 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 +chr11 2466368 KCNQ1 C A 2 . 6.197 . . . . nonsynonymous_SNV exonic D . . . 10 +chr11 2466419 KCNQ1 G A 2 . 3.160 . . . . nonsynonymous_SNV exonic D . . . 7 +chr11 2466433 KCNQ1 C A 1 . . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374 Long_QT_syndrome|not_specified Likely_benign . synonymous_SNV exonic . . 0 0 4 +chr11 2466436 KCNQ1 C A 1 . 2.245 . . . . nonsynonymous_SNV exonic D . . . 7 +chr11 2591837 KCNQ1 C T 1 . . . . . 4.616e-05 . intronic . . 6.34e-05 . 4 +chr11 2592673 KCNQ1 A C 2 . . . . . . . intronic . . . . 4 +chr11 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 0 +chr11 2594172 KCNQ1 C T 1 . 6.011 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Congenital_long_QT_syndrome|not_specified|Cardiovascular_phenotype Uncertain_significance 1.526e-05 nonsynonymous_SNV exonic D . 3.594e-05 6.674e-05 10 +chr11 2606414 KCNQ1 C T 1 . . . . . 3.008e-05 . intronic . . 2.688e-05 . 4 +chr11 2608850 KCNQ1 G T 3 0.000599042 0.832 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:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|not_provided Conflicting_interpretations_of_pathogenicity 0.0012 nonsynonymous_SNV exonic D 0.0008 0.0012 0.0004 7 +chr11 2683177 KCNQ1OT1 C T 2 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 +chr11 2790163 KCNQ1 T C 37 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 -2 +chr11 2797237 KCNQ1 G A 36 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 -2 +chr11 2797320 KCNQ1 AGGT GGGT 148 0.668331 . . . . 0.6840 . intronic . 0.6891 0.6784 0.6863 -2 +chr11 2798305 KCNQ1 T C 46 0.223842 . . . . 0.2406 . intronic . 0.2302 0.2356 0.2468 -2 +chr11 2799299 KCNQ1 G T 5 0.0133786 . . . . 0.0484 . intronic . 0.0511 0.0514 0.0608 -2 +chr11 2869063 KCNQ1 G A 1 . -0.549 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN517202 Long_QT_syndrome|not_specified|not_provided Uncertain_significance 0 nonsynonymous_SNV exonic D . 1.455e-05 0 7 +chr11 2869188 KCNQ1 C T 44 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 -2 +chr11 6629665 ILK C T 52 0.314696 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2634 synonymous_SNV exonic . 0.25 0.2605 0.2609 -2 +chr11 6629915 ILK T G 1 . . . . . 4.496e-05 . intronic . . 3.581e-05 . 4 +chr11 6630028 ILK TCCCCCAT TCCCCAT 230 1 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign 1.0000 . intronic . . 1.0000 1 -2 +chr11 6630410 ILK T C 46 0.120807 . . . . 0.2542 . intronic . 0.2548 0.2530 0.2603 -2 +chr11 6630524 ILK C T 3 0.000399361 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Benign 0.0009 . intronic . 0.0010 0.0008 0.0004 4 +chr11 6630833 ILK G A 52 0.347444 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2642 synonymous_SNV exonic . 0.2514 0.2615 0.2613 -2 +chr11 6631016 ILK C T 48 0.160144 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2594 synonymous_SNV exonic . 0.2647 0.2581 0.2689 -2 +chr11 6631300 ILK G A 6 0.00579073 . . . . 0.0173 . intronic . 0.0177 0.0164 0.0124 -2 +chr11 6631361 ILK C T 2 0.019369 . MedGen:CN169374 not_specified Benign 0.0051 . intronic . 0.0068 0.0050 0.0080 -2 +chr11 19204234 CSRP3 C A 2 . 2.913 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Uncertain_significance 0.0001 nonsynonymous_SNV exonic T 0.0003 0.0001 6.661e-05 2 +chr11 19207841 CSRP3 C T 25 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 -6 +chr11 19207878 CSRP3 C T 1 0.000199681 4.863 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1843808,OMIM:607482|MedGen:C2677491,OMIM:612124|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1M|Familial_hypertrophic_cardiomyopathy_12|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0020 nonsynonymous_SNV exonic T 0.0008 0.0015 0.0040 4 +chr11 19209703 CSRP3 A G 1 . . MedGen:C1843808,OMIM:607482|MedGen:C2677491,OMIM:612124 Dilated_cardiomyopathy_1M|Familial_hypertrophic_cardiomyopathy_12 Likely_benign 2.998e-05 synonymous_SNV exonic . . 2.694e-05 . 0 +chr11 47353498 MYBPC3 G A 33 0.356629 . . . . . . intronic . 0.1747 . 0.1750 -2 +chr11 47353695 MYBPC3 C T 1 . 4.508 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified Uncertain_significance 6.02e-05 nonsynonymous_SNV exonic T 0.0004 5.375e-05 . 2 +chr11 47354485 MYBPC3 A G 1 . 6.209 . . . . nonsynonymous_SNV exonic D . . 6.685e-05 10 +chr11 47354787 MYBPC3 C T 66 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 -6 +chr11 47354905 MYBPC3 T C 28 0.0329473 . MedGen:CN169374 not_specified Benign 0.1510 . intronic . 0.1060 0.1074 0.1200 -2 +chr11 47355191 MYBPC3 C T 1 . 3.321 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity 9.022e-05 nonsynonymous_SNV exonic T 0.0001 0.0001 0.0001 4 +chr11 47357416 MYBPC3 G A,C 1 . . . . . . . intronic . . . . 4 +chr11 47358997 MYBPC3 G A 8 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 -6 +chr11 47359343 MYBPC3 C T 1 . 5.608 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202 Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_provided Likely_pathogenic 0 nonsynonymous_SNV exonic T 0.0001 1.856e-05 . 11 +chr11 47360053 MYBPC3 G C 8 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 +chr11 47360123 MYBPC3 T C 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr11 47360129 MYBPC3 C T 1 . . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Likely_benign 0 synonymous_SNV exonic . . 0 . 4 +chr11 47360829 MYBPC3 G A 1 . . . . . 0 . intronic . . 0 . 4 +chr11 47362642 MYBPC3 C T 1 0.00898562 . MedGen:CN169374 not_specified Benign 0.0272 . intronic . 0.0192 0.0218 0.0229 -2 +chr11 47364189 MYBPC3 C T 1 0.00179712 0.092 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 Benign/Likely_benign 0.0002 nonsynonymous_SNV exonic T 0.0008 0.0002 0.0001 0 +chr11 47364259 MYBPC3 G C 1 . . MedGen:CN169374 not_specified Likely_benign 9.002e-05 synonymous_SNV exonic . . 8.057e-05 0 4 +chr11 47365199 MYBPC3 G A 73 0.249601 . MedGen:CN169374 not_specified Benign 0.3310 . intronic . 0.3084 0.3074 0.2921 -2 +chr11 47367871 MYBPC3 C T 2 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 -4 +chr11 47368153 MYBPC3 G T 1 0.00838658 . MedGen:CN169374 not_specified Benign 0.0257 . intronic . 0.0242 0.0255 0.0248 -2 +chr11 47369312 MYBPC3 C T 1 . . . . . . . intronic . . . . 4 +chr11 47369443 MYBPC3 G A 31 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 -6 +chr11 47370041 MYBPC3 T C 31 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 -6 +chr11 47371414 MYBPC3 C T 5 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 8 +chr11 47371442 MYBPC3 G A 2 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 -6 +chr11 47371484 MYBPC3 AGGGGCGA AGGGCGA 171 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 . 0.7248 0.7173 0.7226 -6 +chr11 47371578 MYBPC3 G A 5 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 -6 +chr11 47371598 MYBPC3 C T 11 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 -6 +chr11 47372090 MYBPC3 T G 2 . . . . . . synonymous_SNV exonic . . . . 4 +chr11 47372197 MYBPC3 A C 1 . . . . . . . intronic . . . . 4 +chr11 47372887 MYBPC3 C T 1 . . . . . 0.0001 synonymous_SNV exonic . 0.0001 3.079e-05 . 4 +chr11 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 +chr11 111781047 CRYAB A C 79 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 -2 +chr11 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 -10 +chr11 118015771 SCN4B C T 1 . 3.981 . . . . . splicing . . . . 12 +chr11 118015832 SCN4B G A 10 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 +chr11 118023323 SCN4B C T 1 . . . . . . . intronic . . 9.206e-06 . 4 +chr11 118037813 SCN2B G T 101 0.514377 . MedGen:CN169374 not_specified Benign 0.4739 . intronic . 0.4707 0.4661 0.4683 -2 +chr11 123504813 SCN3B T G 1 0.000599042 . MedGen:CN169374 not_specified Benign 0.0006 . intronic . 0.0007 0.0009 0.0011 0 +chr11 123504959 SCN3B C G 146 0.750599 . . . . 0.5550 . intronic . 0.5523 0.5519 0.5424 -2 +chr11 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 +chr11 123513209 SCN3B C T 2 . . MedGen:C2751088,OMIM:613120|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_7|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0010 synonymous_SNV exonic . 0.0008 0.0010 0.0009 0 +chr11 123524411 SCN3B G A 28 0.142173 . . . . 0.1402 . intronic . 0.1395 0.1415 0.1368 -2 +chr11 123524504 SCN3B A G 1 . . . . . 1.5e-05 synonymous_SNV exonic . . 2.686e-05 . 4 +chr11 128781339 KCNJ5 T C 211 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 +chr11 128781800 KCNJ5 G T 1 . 6.848 . . . . nonsynonymous_SNV exonic D . . . 10 +chr11 128781978 KCNJ5 T G 211 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 -2 +chr11 128782002 KCNJ5 T C 211 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 -2 +chr11 128782012 KCNJ5 C G 230 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 -2 +chr11 128782112 KCNJ5 C T 2 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 +chr11 128786294 KCNJ5 G A 189 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 +chr12 2224449 CACNA1C G A 3 0.000399361 4.638 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0117 nonsynonymous_SNV exonic D 0.0032 0.0054 0.0049 1 +chr12 2224511 CACNA1C C T 8 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 -2 +chr12 2229476 CACNA1C G A 8 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 -2 +chr12 2558186 CACNA1C G A 46 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 -2 +chr12 2558243 CACNA1C C 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 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified Benign/Likely_benign 0.0002 synonymous_SNV exonic . . 6.281e-05 . 2 +chr12 2558298 CACNA1C GTT ATC 57 . . . . . . . intronic . . . . 12 +chr12 2595283 CACNA1C C T 1 0.0133786 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0001 synonymous_SNV exonic . 0.0002 8.254e-05 0 -2 +chr12 2595423 CACNA1C T C 2 0.000199681 0.051 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic T 0.0012 0.0009 0.0007 0 +chr12 2613716 CACNA1C C T 30 0.0782748 . MedGen:CN169374 not_specified Benign 0.0824 . intronic . 0.0868 0.0817 0.0716 -2 +chr12 2614070 CACNA1C G T 2 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 0 +chr12 2659082 CACNA1C G T 57 0.294928 . . . . 0.3105 . intronic . 0.2256 0.2304 0.2286 -2 +chr12 2659241 CACNA1C G C 1 . . . . . 6.373e-05 . intronic . . 4.646e-05 0.0001 4 +chr12 2694552 CACNA1C C T 1 . 3.595 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374 Long_QT_syndrome|not_specified Uncertain_significance 3.576e-05 nonsynonymous_SNV exonic D . 8.158e-05 0.0001 7 +chr12 2694638 CACNA1C C T 26 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 -2 +chr12 2694967 CACNA1C CTA CTGTA 1 0.0453275 . . . . 0.0005 . intronic . 0.0006 0.0005 0.0003 -2 +chr12 2695136 CACNA1C C T 2 0.00638978 . . . . . . intronic . 0.0189 . 0.0209 -2 +chr12 2702366 CACNA1C G A 1 . . . . . 6.273e-05 . intronic . . 3.606e-05 . 4 +chr12 2702389 CACNA1C TGAGGAGGAGC TGAGGAGC 1 . . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374 Long_QT_syndrome|not_specified Conflicting_interpretations_of_pathogenicity 0.0004 nonframeshift_deletion exonic . 0.0020 0.0003 0.0004 0 +chr12 2706632 CACNA1C T G 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr12 2706720 CACNA1C G C 222 0.951278 . . . . . . intronic . 0.9739 . 0.9762 -2 +chr12 2711010 CACNA1C C G 1 . . MedGen:CN169374 not_specified Likely_benign 3.001e-05 . intronic . . 1.791e-05 . 4 +chr12 2715861 CACNA1C C T 1 . . . . . 0.0001 . intronic . . 6.146e-05 . 4 +chr12 2715862 CACNA1C G A 1 . . . . . 2.477e-05 . intronic . . 2.063e-05 0 4 +chr12 2721131 CACNA1C C A 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 0.0024 synonymous_SNV exonic . 0.0029 0.0021 0.0015 0 +chr12 2721137 CACNA1C C T 55 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 -2 +chr12 2757710 CACNA1C G A 1 0.00319489 . . . . 7.501e-05 . intronic . 0.0001 7.171e-05 0 0 +chr12 2757754 CACNA1C AGT AGC,GGT,CGT 1 . . . . . . . intronic . . . . 4 +chr12 2757755 CACNA1C GT GC 12 . . . . . . . intronic\x3bintronic . . . . 12 +chr12 2760898 CACNA1C C T 14 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 -2 +chr12 2760898 CACNA1C C T 1 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 -2 +chr12 2762997 CACNA1C C A 1 . . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 6.084e-05 . intronic . . 3.593e-05 0 4 +chr12 2763103 CACNA1C G T 1 . . . . . 0.0006 . intronic . 0.0007 0.0006 0.0003 0 +chr12 2774833 CACNA1C T C 2 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 -2 +chr12 2775964 CACNA1C G A 1 . . . . . 4.314e-05 . intronic . . 1.201e-05 . 4 +chr12 2778210 na G A 1 . . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified Conflicting_interpretations_of_pathogenicity 0.0002 . ncRNA_intronic . 0.0002 0.0002 0.0002 2 +chr12 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 -2 +chr12 2788668 CACNA1C C G 1 0.000399361 2.872 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0007196,Orphanet:ORPHA217632|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN517202 Long_QT_syndrome|Cardiomyopathy,_restrictive|Brugada_syndrome|Timothy_syndrome|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0010 nonsynonymous_SNV exonic T . 0.0006 0.0005 0 +chr12 2788810 CACNA1C C T 18 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 -2 +chr12 2788879 CACNA1C G A 145 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 -2 +chr12 2788949 CACNA1C C G 1 . 1.294 . . . . nonsynonymous_SNV exonic D . 1.435e-05 . 7 +chr12 2791130 CACNA1C CGA TGG,CGG 1 . . . . . . frameshift_deletion exonic . . . . 4 +chr12 2791205 CACNA1C A G 230 1 . MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic . 1 1 1 -2 +chr12 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 0 +chr12 2794932 CACNA1C A G 1 0.00938498 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0001 synonymous_SNV exonic . 0.0002 0.0001 6.666e-05 0 +chr12 2794977 CACNA1C G A 1 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 -2 +chr12 2795019 na C T 1 . . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374 Brugada_syndrome|Timothy_syndrome|not_specified Benign/Likely_benign 0.0166 . ncRNA_intronic . . 0.0070 0.0039 -2 +chr12 2797746 CACNA1C G A 1 0.00319489 2.269 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|short_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0021 nonsynonymous_SNV exonic T 0.0022 0.0016 0.0012 0 +chr12 2797829 CACNA1C G A 1 0.000399361 -0.813 . . . 6.189e-05 nonsynonymous_SNV exonic T . 7.229e-05 . 2 +chr12 2800273 CACNA1C G A 1 . 3.985 . . . . nonsynonymous_SNV exonic T . . . 4 +chr12 5153493 KCNA5 G A 1 0.00299521 . MedGen:C2677106,OMIM:612240|MedGen:CN204347,Orphanet:ORPHA334 Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation Conflicting_interpretations_of_pathogenicity 0.0010 synonymous_SNV exonic . 0.0003 0.0003 0.0002 0 +chr12 5153573 KCNA5 G A 2 0.000199681 -0.949 . . . 0.0010 nonsynonymous_SNV exonic T 0.0006 0.0005 0.0005 0 +chr12 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 +chr12 5153883 KCNA5 C T 1 0.000599042 . MedGen:C2677106,OMIM:612240 Atrial_fibrillation,_familial,_7 Benign 0.0050 synonymous_SNV exonic . 0.0062 0.0055 0.0039 0 +chr12 5154064 KCNA5 G A 1 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 -2 +chr12 5154462 KCNA5 T C 229 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 +chr12 5155046 KCNA5 G A 1 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 0 +chr12 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 0 +chr12 21958259 ABCC9 TAGAAAA TA 1 . . . . . . . intronic . . . . 4 +chr12 21958998 ABCC9 CAAAAAAAAAAAAGTGT CAAAAAAAAAAAGTGT,CAAAAAAAAAAAAAGTGT 1 . . MedGen:CN169374 not_specified Benign 0.0365 . intronic . . 0.0766 0.0014 -2 +chr12 21965027 ABCC9 A C 1 . . . . . 1.499e-05 synonymous_SNV exonic . . 8.97e-06 . 4 +chr12 21965105 ABCC9 A G 1 . . . . . 3.007e-05 . intronic . . 2.701e-05 . 4 +chr12 21967618 ABCC9 C T 1 . . MedGen:C1837839,OMIM:608569|MedGen:CN169374 Dilated_cardiomyopathy_1O|not_specified Likely_benign 0.0001 synonymous_SNV exonic . 0.0001 0.0001 0.0003 0 +chr12 21981892 ABCC9 C T 1 . . MedGen:C1837839,OMIM:608569|MedGen:CN169374 Dilated_cardiomyopathy_1O|not_specified Uncertain_significance 0.0001 synonymous_SNV exonic . 0.0001 0.0001 0.0004 4 +chr12 22001193 ABCC9 T C 1 0.000399361 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0009 . intronic . 0.0013 0.0008 0.0003 4 +chr12 22005167 ABCC9 C T 3 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 8 +chr12 22005422 ABCC9 G A 2 0.00159744 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype Benign 0.0055 synonymous_SNV exonic . 0.0065 0.0054 0.0049 -8 +chr12 22016003 ABCC9 AGAAAAAAAAAAACACCAGG AGAAAAAAAAAACACCAGG 8 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\x3bintronic . . 0.4112 0.3188 -6 +chr12 22016004 ABCC9 GAAAAAAAAAAACACCAGG GAAAAAAAAAACACCAGG,TAAAAAAAAAAACACCAGG,GAAAAAAAAAAAACACCAGG,CAAAAAAAAAAACACCAGG 8 . . . . . . . intronic . . . . 12 +chr12 22017410 ABCC9 C T 3 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 -6 +chr12 22017422 ABCC9 AGC GGC 230 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 -6 +chr12 22017476 ABCC9 C T 1 . . . . . . . intronic . . . 0.0002 4 +chr12 22017482 ABCC9 GTAAC GTAAG,TTAAC 1 . . . . . . . intronic . . . . 4 +chr12 22017486 ABCC9 C G 228 0.998203 . . . . . . intronic . 1 . 1 -2 +chr12 22035732 ABCC9 G A 1 . 4.864 MedGen:CN169374 not_specified Uncertain_significance 7.494e-05 nonsynonymous_SNV exonic D 0.0002 0.0001 0.0003 5 +chr12 22040868 ABCC9 A G 1 . . . . . 3.015e-05 synonymous_SNV exonic . . 1.804e-05 . 4 +chr12 22063112 ABCC9 ATTA ATTG,TTTA 1 . 4.560 . . . . nonsynonymous_SNV exonic D . . . 7 +chr12 22063113 ABCC9 TTA TTG,ATA 1 . 6.252 . . . . nonsynonymous_SNV exonic D . . . 10 +chr12 22063114 ABCC9 TA TG 2 . . . . . . frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion exonic\x3bexonic\x3bexonic . . . . 4 +chr12 22063115 ABCC9 AGGA GGGA 224 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 -6 +chr12 22063251 ABCC9 CAAAAAAAAAAAAAAG CAAAAAAAAAAAAAG 65 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 -6 +chr12 22063749 ABCC9 T C 230 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 -6 +chr12 22066006 ABCC9 GAAAAAAAAAAG TAAAAAAAAAAG,GAAAAAAAAAG 230 . . . . . 0.0229 . intronic . 0.0198 0.0199 0.0168 -2 +chr12 22068591 ABCC9 C T 1 0.000399361 . MedGen:CN169374 not_specified Likely_benign 0.0001 . intronic . 0.0001 0.0002 . 2 +chr12 22068849 ABCC9 G T 141 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 -6 +chr12 22070051 ABCC9 G T 1 0.000798722 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0042 . intronic . 0.0040 0.0040 0.0042 4 +chr12 22078910 ABCC9 A G 1 . . 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 0.0012 synonymous_SNV exonic . 0.0010 0.0013 0.0018 4 +chr12 22079020 ABCC9 G A 1 0.00179712 . . . . 0.0031 . intronic . 0.0035 0.0038 0.0040 0 +chr12 22089561 ABCC9 G A 1 . . MedGen:C1837839,OMIM:608569|MedGen:CN169374 Dilated_cardiomyopathy_1O|not_specified Likely_benign 0.0001 synonymous_SNV exonic . . 9.87e-05 0 0 +chr12 25362777 KRAS A G 49 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 +chr12 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 +chr12 25368434 KRAS T A 1 . 2.061 . . . . nonsynonymous_SNV exonic T . . . 4 +chr12 25368462 KRAS C T 230 0.997604 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign 1 synonymous_SNV exonic . 1 1 1 -2 +chr12 25380209 KRAS G A 1 . . MedGen:CN166718,Orphanet:ORPHA98733 Rasopathy Likely_benign 6.028e-05 synonymous_SNV exonic . . 4.488e-05 . 4 +chr12 32945486 PKP2 G T 5 0.0339457 . . . . . . intronic . 0.0283 . 0.0253 -2 +chr12 32945495 PKP2 C T 154 0.450479 . . . . . . intronic . . . 0.6571 -2 +chr12 32949029 PKP2 ACT AGCT 25 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 -2 +chr12 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 3 +chr12 32949251 PKP2 AACA AA,AAA 2 0.304912 . MedGen:CN169374 not_specified Benign 0.1115 . intronic\x3bintronic . 0.1207 0.0915 0.1204 -2 +chr12 32949252 PKP2 ACA AA,AAA 2 . . . . . 0.0198 . intronic . . 0.0092 0.0007 -2 +chr12 32955330 PKP2 G A 4 0.0716853 . MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0133 . intronic . 0.0117 0.0125 0.0099 -2 +chr12 32974345 PKP2 T C 1 . 4.047 . . . 2.998e-05 nonsynonymous_SNV exonic T . 1.791e-05 . 4 +chr12 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 8 +chr12 32994073 PKP2 G A 1 0.00379393 0.934 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 0.0025 nonsynonymous_SNV exonic T 0.0023 0.0027 0.0016 0 +chr12 33003706 PKP2 T C 1 0.00159744 4.775 MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 6.005e-05 nonsynonymous_SNV exonic T . 4.498e-05 0 0 +chr12 33021868 PKP2 C T 1 . 7.091 . . . 0 nonsynonymous_SNV exonic T . 8.956e-06 0 7 +chr12 33021934 PKP2 A G 44 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 -2 +chr12 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 0 +chr12 33031395 PKP2 G A 1 0.00119808 2.985 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN232456 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Dysplasia,_arrhythmogenic_right_ventricular Conflicting_interpretations_of_pathogenicity 0.0033 nonsynonymous_SNV exonic T 0.0029 0.0037 0.0027 0 +chr12 33031884 PKP2 G T 1 . . MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0006 synonymous_SNV exonic . 0.0002 0.0004 . 0 +chr12 33049457 PKP2 C A 7 0.0131789 3.446 MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0289 nonsynonymous_SNV exonic T 0.0261 0.0260 0.0297 -2 +chr12 33049482 PKP2 G T 1 . 3.114 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic T 0.0004 0.0003 0.0005 2 +chr12 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 4 +chr12 98926748 TMPO T G 1 0.0191693 2.731 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 0.0004 nonsynonymous_SNV exonic T 0.0006 0.0004 0.0004 -6 +chr12 98926863 TMPO GTTTATTTC GTTATTTC 1 . . . . . . frameshift_deletion exonic . . . . 4 +chr12 98926912 TMPO T G 1 0.0191693 2.192 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 0.0004 nonsynonymous_SNV exonic T 0.0006 0.0004 0.0004 -6 +chr12 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 -6 +chr12 98927469 TMPO G C 1 0.0191693 -0.265 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 0.0004 nonsynonymous_SNV exonic T 0.0006 0.0004 0.0004 -6 +chr12 98927830 TMPO C G 26 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 -6 +chr12 98938323 TMPO T C 1 . . . . . . . intronic . . . . 4 +chr12 98940133 TMPO T C 1 0.0191693 . MedGen:CN169374 not_specified Benign 0.0004 . intronic . 0.0006 0.0004 0.0004 -2 +chr12 98940228 TMPO ATT ATTT 9 . . . . . . . intronic . . . . 12 +chr12 111350999 MYL2 G A,T 9 0.00439297 . . . . 0.0142 . intronic . . 0.0155 0.0181 -2 +chr12 111351002 MYL2 CAG CG 1 0.0449281 . . . . 0.0004 . intronic . 0.0005 0.0004 0.0002 -2 +chr12 111351003 MYL2 AGGGGGC AGGGGGGC 14 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 . 0.0664 0.0653 0.0729 -2 +chr12 111351029 MYL2 TCCCCCACAG TCCCCACAG,ACCCCCACAG,GCCCCCACAG 14 . . . . . . . intronic . . . . 12 +chr12 111351140 MYL2 C T 1 . . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity 2.999e-05 . intronic . . 5.371e-05 6.667e-05 4 +chr12 111351186 MYL2 C T 14 0.102636 . MedGen:CN517202 not_provided not_provided . . intronic . 0.0644 . 0.0727 -2 +chr12 111351963 MYL2 G C 1 . . . . . . . intronic . . 0 . 4 +chr12 111351973 MYL2 CA CAGA 2 . . . . . . . intronic . . . . 4 +chr12 111353556 MYL2 A G 17 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 +chr12 111357011 MYL2 G A 1 0.0445288 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1834460,OMIM:608758|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|not_specified Benign/Likely_benign 0.0004 . intronic . 0.0005 0.0004 0.0004 -2 +chr12 111358266 MYL2 C T 1 0.0155751 . . . . . . intronic . 0.0116 . 0.0145 -2 +chr12 112856954 PTPN11 G C 3 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 -2 +chr12 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 +chr12 112910815 PTPN11 A C 1 . 1.802 . . . 3.048e-05 nonsynonymous_SNV exonic T . 6.509e-05 . 4 +chr12 112915434 PTPN11 C T 13 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 -2 +chr12 112915480 PTPN11 C T 1 . . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign 7.492e-05 synonymous_SNV exonic . . 4.478e-05 0 4 +chr12 112919869 PTPN11 C A 3 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 -2 +chr12 112924312 PTPN11 T C 1 . 6.219 . . . . nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D . . . 4 +chr12 114823243 TBX5 A G 1 . . . . . 0.0004 . intronic . 0.0007 0.0004 0.0003 0 +chr12 114823318 TBX5 C G 1 . 6.571 . . . . nonsynonymous_SNV exonic D . . . 10 +chr12 114836450 TBX5 C G 1 . . . . . 8.489e-05 synonymous_SNV exonic . . 6.32e-05 . 4 +chr14 23851325 MYH6 G A 1 0.0485224 . . . . . . intronic . 0.0041 . 0.0043 -2 +chr14 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 -6 +chr14 23853702 MYH6 C T 1 . . . . . . synonymous_SNV exonic . . 8.954e-06 . 4 +chr14 23854155 MYH6 G A 18 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 -6 +chr14 23854272 MYH6 T C 21 0.072484 . MedGen:CN169374 not_specified Benign 0.0877 . intronic . 0.0844 0.0831 0.0785 -2 +chr14 23855314 MYH6 C T 1 0.00339457 . MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0004 synonymous_SNV exonic . 0.0002 0.0004 0.0004 0 +chr14 23855320 MYH6 G A 18 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 -6 +chr14 23855349 MYH6 C T 1 0.00179712 . 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 Conflicting_interpretations_of_pathogenicity 1.503e-05 . intronic . . 8.968e-06 0 4 +chr14 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 -2 +chr14 23855569 MYH6 A G 114 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 -6 +chr14 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 -6 +chr14 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 -6 +chr14 23855844 MYH6 T G 3 0.00419329 . 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 . intronic . . 0 0 8 +chr14 23855849 MYH6 C T,G 3 . . . . . . . intronic . . . . 8 +chr14 23856714 MYH6 G A 11 0.019369 . . . . 0.0409 . intronic . 0.0417 0.0379 0.0341 -2 +chr14 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 -6 +chr14 23857351 MYH6 G A 74 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 -6 +chr14 23857531 MYH6 G A 1 . 4.078 . . . 3.005e-05 nonsynonymous_SNV exonic D 0.0001 2.687e-05 0.0002 7 +chr14 23858099 MYH6 T C 2 . 3.514 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Uncertain_significance . nonsynonymous_SNV exonic D . . . 7 +chr14 23858232 MYH6 C T 17 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 -6 +chr14 23858270 MYH6 GAGGGGGGGGGGCACC GAGGGGGGGGCACC 2 . . MedGen:C2750467,OMIM:613251|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_14|not_specified Benign 0.1486 . intronic\x3bintronic . . 0.1598 0.1710 -2 +chr14 23858271 MYH6 AGGGGGGGGGGCACC AGGGGGGGGGCACC,AGGCGGGGGCACC,AGGGGGGGGCACC,AGGGGGGGGGGCCCC,AGGGCGGGGGGCACC,AGGGGGGGGGGGCACC,GGGGGGGGGGGCACC,CGGGGGGGGGGCACC 2 . . MedGen:C2750467,OMIM:613251 Familial_hypertrophic_cardiomyopathy_14 Likely_benign 0 . intronic . . 0 0.0002 4 +chr14 23858272 MYH6 G A 1 0.0119808 . 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:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0021 . intronic . . 0.0004 0.0004 -6 +chr14 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\x3bintronic . . 0.0073 0.0074 -6 +chr14 23858697 MYH6 C G 1 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 6 +chr14 23858875 MYH6 G A 1 . . . . . 7.493e-05 synonymous_SNV exonic . . 4.476e-05 . 4 +chr14 23859425 MYH6 G A 1 . . MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0011 synonymous_SNV exonic . . 0.0008 0.0018 0 +chr14 23859610 MYH6 C T 33 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 +chr14 23859657 MYH6 TGG TG 1 . . . . . . . intronic . . . . 4 +chr14 23861811 MYH6 A G 95 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 -6 +chr14 23862710 MYH6 C T 3 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 -6 +chr14 23863371 MYH6 G A 1 . 2.181 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202 Primary_familial_hypertrophic_cardiomyopathy|not_provided Conflicting_interpretations_of_pathogenicity 2.997e-05 nonsynonymous_SNV exonic T . 7.162e-05 6.666e-05 4 +chr14 23865885 MYH6 G A 91 0.367812 . MedGen:CN169374 not_specified Benign 0.3548 . intronic . 0.3628 0.3529 0.3604 -2 +chr14 23866146 MYH6 G C 9 0.0325479 . . . . 0.0144 . intronic . 0.0124 0.0122 0.0097 -2 +chr14 23866189 MYH6 G A 9 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 -6 +chr14 23867953 MYH6 G A 1 . . MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype Likely_benign 0.0001 synonymous_SNV exonic . 0.0003 0.0001 0.0003 2 +chr14 23869993 MYH6 G A 20 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 -6 +chr14 23871692 MYH6 C T 1 0.000199681 . 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 0.0017 synonymous_SNV exonic . 0.0013 0.0016 0.0021 4 +chr14 23871909 MYH6 G A 4 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 -6 +chr14 23872662 MYH6 TGGGT TGGGC,GGGGT 4 0.000399361 . . . . 1.499e-05 . intronic . . 8.955e-06 . 6 +chr14 23872663 MYH6 GGGT GGGC 14 . . . . . . . intronic\x3bintronic\x3bintronic\x3bintronic . . . . 12 +chr14 23872664 MYH6 GGT GGC 2 . . . . . . . intronic\x3bintronic\x3bintronic\x3bintronic . . . . 4 +chr14 23872665 MYH6 GT GC 2 . . . . . . . intronic\x3bintronic\x3bintronic\x3bintronic . . . . 4 +chr14 23872666 MYH6 T C,G 2 . . . . . . . intronic . . . . 4 +chr14 23873021 MYH6 C T 9 0.0455272 . . . . 0.0377 . intronic . 0.0364 0.0340 0.0294 -2 +chr14 23873532 MYH6 A G 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr14 23873602 MYH6 G A 1 . . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736 Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0006 . intronic . 0.0008 0.0006 0.0011 0 +chr14 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 0 +chr14 23874507 MYH6 G T 33 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 -6 +chr14 23874523 MYH6 C T 59 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 -6 +chr14 23874541 MYH6 C T 21 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 -6 +chr14 23876216 MYH6 G A 9 0.0497204 . MedGen:CN169374 not_specified Benign 0.0298 . intronic . 0.0364 0.0329 0.0297 -2 +chr14 23876267 MYH6 C T 20 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 +chr14 23882144 MYH7 T C,G 20 . . . . . . . intronic . . . . 12 +chr14 23883021 MYH7 C G 1 . 7.274 . . . . nonsynonymous_SNV exonic D . . . 10 +chr14 23883184 MYH7 C T 28 0.134984 . MedGen:CN169374 not_specified Benign 0.1570 . intronic . 0.1524 0.1562 0.1659 -2 +chr14 23884353 MYH7 C T 1 . 7.265 MedGen:CN517202 not_provided Pathogenic . nonsynonymous_SNV exonic D . 8.952e-06 . 10 +chr14 23884889 MYH7 C T 29 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 -10 +chr14 23885441 MYH7 C T 1 . . MedGen:CN169374 not_specified Likely_benign 4.497e-05 synonymous_SNV exonic . . 5.375e-05 . 4 +chr14 23886053 MHRT C A 2 0.00179712 . MedGen:CN169374 not_specified Uncertain_significance 0.0041 . ncRNA_intronic . 0.0031 0.0043 0.0061 0 +chr14 23886155 MYH7 A G 4 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 -10 +chr14 23886226 MHRT G A 2 0.00359425 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0100 . ncRNA_intronic . 0.0128 0.0108 0.0115 -2 +chr14 23886383 MYH7 G A 1 . 6.811 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:CN230736 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiovascular_phenotype Pathogenic/Likely_pathogenic . nonsynonymous_SNV exonic D . . . 18 +chr14 23886409 MYH7 G C 4 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 -10 +chr14 23886765 MYH7 G A 1 . 7.390 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity . nonsynonymous_SNV exonic D . . . 10 +chr14 23886775 MYH7 C A 2 . . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0001 synonymous_SNV exonic . 0.0001 9.85e-05 6.671e-05 4 +chr14 23886838 MYH7 G C 1 . . MedGen:CN169374 not_specified Likely_benign 4.496e-05 synonymous_SNV exonic . 0.0001 2.686e-05 . 4 +chr14 23886855 MYH7 C T 1 . 4.676 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Uncertain_significance 2.999e-05 nonsynonymous_SNV exonic D . 5.372e-05 0.0001 7 +chr14 23888371 MYH7 G A 1 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 -6 +chr14 23888671 MYH7 G A 1 0.00179712 . MedGen:CN169374 not_specified Uncertain_significance 0.0054 . intronic . 0.0043 0.0049 0.0055 0 +chr14 23889429 MYH7 C T 1 0.00119808 . 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 0.0038 synonymous_SNV exonic . 0.0039 0.0037 0.0031 -8 +chr14 23889445 MYH7 TGGTC TGGGTC 20 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 +chr14 23891477 MYH7 G A 1 . 6.193 . . . . nonsynonymous_SNV exonic D . . . 10 +chr14 23891481 MYH7 C T 3 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 +chr14 23892888 MYH7 A G 85 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 -10 +chr14 23892950 MYH7 C T 2 0.0507188 . MedGen:CN169374 not_specified Benign 0.0007 . intronic . 0.0009 0.0008 0.0007 -2 +chr14 23895025 MYH7 T C 1 . 5.554 . . . . nonsynonymous_SNV exonic D . . . 10 +chr14 23897077 MYH7 T C 2 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 -10 +chr14 23898994 MYH7 G A 20 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 -10 +chr14 23899027 MYH7 C T 28 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 -10 +chr14 23899060 MYH7 G A 26 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 -10 +chr14 23899793 MYH7 G A 16 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 -10 +chr14 23900093 MYH7 C T 10 0.0471246 . MedGen:CN169374 not_specified Likely_benign 0.0095 . intronic . 0.0091 0.0080 0.0064 -2 +chr14 23900794 MYH7 G A 48 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 exonic . 0.1680 0.1604 0.1547 -10 +chr14 23901012 MYH7 T C 5 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 -10 +chr14 23902321 MYH7 T C 1 . 2.694 . . . . nonsynonymous_SNV exonic T . . . 4 +chr14 23902753 MYH7 G A 124 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 -10 +chr14 73637578 PSEN1 G A 1 . 1.911 . . . 0 nonsynonymous_SNV exonic D . 0 . 7 +chr14 73664718 PSEN1 T C 23 0.0189696 . . . . 0.0703 . intronic . 0.0523 0.0552 0.0516 -2 +chr14 73664853 PSEN1 G T 139 0.671526 . MedGen:CN169374 not_specified Benign 0.5730 . intronic . 0.5613 0.5520 0.5399 -2 +chr14 73673178 PSEN1 A G 2 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 +chr14 76425517 TGFB3 C T 1 . . . . . 2.997e-05 . UTR3 . 0.0001 4.477e-05 6.661e-05 4 +chr14 76425518 TGFB3 G A 1 . . . . . 0 . UTR3 . . 2.686e-05 6.663e-05 4 +chr14 76432050 TGFB3 G C 2 0.00119808 . MedGen:CN169374 not_specified Likely_benign 0.0003 . intronic . 0.0003 0.0003 0.0004 0 +chr14 90863487 CALM1 GCG GCA 2 . . . . . . . UTR5\x3bUTR5 . . . . 4 +chr14 90863488 CALM1 CG CA 10 . . . . . . . UTR5\x3bUTR5 . . . . 12 +chr14 90863489 CALM1 GGCA AGCA 166 0.716054 . . . . . . UTR5 . 0.8852 . 0.8792 -2 +chr14 90863643 CALM1 TTTTGTTTGT TTTTGT 1 . . . . . . . intronic . . . . 4 +chr14 90866346 CALM1 C T 121 0.484425 . . . . . . intronic . 0.6245 . 0.6196 -2 +chr14 90867764 CALM1 A G 1 0.00159744 . MedGen:CN169374 not_specified Likely_benign 0 . intronic . . 0 0 0 +chr15 35083494 ACTC1 T C 1 . 1.818 . . . . nonsynonymous_SNV exonic D . . . 7 +chr15 35085501 ACTC1 G A 1 . . MedGen:C2677506,OMIM:612098|MedGen:C2748552,OMIM:612794|MedGen:C3150681,OMIM:613424|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_11|Atrial_septal_defect_5|Dilated_cardiomyopathy_1R|not_specified Likely_benign 1.5e-05 synonymous_SNV exonic . . 8.955e-06 . 0 +chr15 48704843 FBN1 C T 1 0.000199681 6.215 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:CN517202 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0001 nonsynonymous_SNV exonic T 0.0001 0.0001 . 5 +chr15 48707820 FBN1 G A 1 0.000599042 2.466 MedGen:CN169374 not_specified Conflicting_interpretations_of_pathogenicity 0.0001 nonsynonymous_SNV exonic T . 7.184e-05 0.0001 0 +chr15 48712876 FBN1 T G 8 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 +chr15 48720526 FBN1 G C 175 0.65595 . MedGen:CN169374 not_specified Benign 0.7660 . intronic . 0.7771 0.7679 0.7594 -2 +chr15 48720652 FBN1 C T 8 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 +chr15 48722884 FBN1 A G 8 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 +chr15 48725121 FBN1 T G 3 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 4 +chr15 48725206 FBN1 T A 8 0.0507188 . MedGen:CN169374 not_specified Benign 0.0148 . intronic . 0.0172 0.0154 0.0137 -2 +chr15 48729648 FBN1 T C 209 0.930112 . . . . . . intronic . 0.8866 . 0.8599 -2 +chr15 48740936 FBN1 GAAAAAAAT GAAAAAAAAT 8 0.0425319 . MedGen:CN169374 not_specified Benign 0.0159 . intronic . 0.0177 0.0156 0.0138 -2 +chr15 48744908 FBN1 AAGGA AA 8 . . . . . . . intronic . . . . 12 +chr15 48755450 FBN1 TAAAAAAAAG TAAAAAAAAAG 8 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 +chr15 48760750 FBN1 T C 8 0.0405351 . MedGen:CN169374 not_specified Benign 0.0103 . intronic . 0.0101 0.0099 0.0085 -2 +chr15 48762982 FBN1 A T 2 . . . . . 0.0018 . intronic . 0.0024 0.0020 0.0017 0 +chr15 48779231 FBN1 GTAAAATAAAATAAAATAAAATAAAATAAAAAAGAAC GTAAAATAAAATAAAATAAAATAAAAAAGAAC,ATAAAGTAAAATAAAATAAAATAAAATAAAAAAGAAC 2 . . . . . . . intronic . . . . 4 +chr15 48779402 FBN1 C T 29 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 +chr15 48780290 FBN1 T C 1 . . MedGen:CN169374 not_specified Likely_benign 1.499e-05 . intronic . . 1.791e-05 . 4 +chr15 48780353 FBN1 G A 1 0.00219649 . 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 0.0098 synonymous_SNV exonic . 0.0079 0.0089 0.0111 0 +chr15 48782118 FBN1 G A 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr15 48782204 FBN1 G A 1 0.000199681 7.876 MedGen:CN517202 not_provided Pathogenic 1.499e-05 nonsynonymous_SNV exonic D . 1.79e-05 0 8 +chr15 48782235 FBN1 C T 1 . . 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 0.0007 synonymous_SNV exonic . 0.0009 0.0003 0.0003 0 +chr15 48797307 FBN1 A G 29 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 +chr15 48807637 FBN1 C T 230 1 . MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic . . 1 1 -2 +chr15 48826425 FBN1 GAGAAAAAAAAAAAACTCAT GAGAAAAAAAAAAACTCAT,TATAAAAAAAAAAAACTCAT,GATAAAAAAAAAAAACTCAT,GAGAAAAAAAAAAAACTAAT,TAGAAAAAAAAAAAACTCAT 230 . . . . . . . intronic . . . . 12 +chr15 48826426 FBN1 AGAAAAAAAAAAAACTCAT AGAAAAAAAAAAACTCAT,ATAAAAAAAAAAAACTCAT,AGAAAAAAAAAAAACTAAT 230 . . . . . . . intronic\x3bintronic . . . . 12 +chr15 48826427 FBN1 GAAAAAAAAAAAAC GAAAAAAAAAAAC,TAAAAAAAAAAAAC 230 . . . . . . . intronic\x3bintronic\x3bintronic . . . . 12 +chr15 48888610 FBN1 T C 9 0.0151757 . . . . 0.0220 . intronic . 0.0235 0.0229 0.0194 -2 +chr15 48936908 FBN1 T C 1 0.000199681 2.153 MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN517202 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0002 nonsynonymous_SNV exonic T 0.0003 0.0003 0.0002 2 +chr15 63335001 TPM1 A C 2 . . . . . . . UTR5 . . . . 4 +chr15 63335907 TPM1 C G 1 0.00419329 . MedGen:CN169374 not_specified Benign 0.0035 synonymous_SNV exonic . . 0.0002 6.676e-05 0 +chr15 63351736 TPM1 G A 1 0.00119808 . MedGen:CN169374 not_specified Uncertain_significance 0.0005 . intronic . 0.0007 0.0004 6.662e-05 0 +chr15 63351840 TPM1 C A 138 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 -6 +chr15 63351873 TPM1 T C 23 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 2 +chr15 63353451 TPM1 A G 1 0.00259585 . MedGen:CN169374 not_specified Benign 0.0005 synonymous_SNV exonic . 0.0005 0.0006 0.0005 0 +chr15 63354009 TPM1 G C 2 0.00898562 . MedGen:CN169374 not_specified Likely_benign 0.0139 . intronic . 0.0128 0.0136 0.0118 -2 +chr15 63358029 TPM1 TTTCTTTTTTTTTTTTTTCTCATTGTG TTTCTTTTTTTTTTTTTCTCATTGTG 2 . . . . . . . intronic\x3bintronic\x3bintronic . . . 0.1093 4 +chr15 63358030 TPM1 TTCTTTTTTTTTTTTTTCTCATTGTG TTCTTTTTTTTTTTTTCTCATTGTG 2 . . . . . . . intronic\x3bintronic\x3bintronic . . . 0.1093 4 +chr15 63358031 TPM1 TCTTTTTTTTTTTTTTCTCATTGTG TCTTTTTTTTTTTTTCTCATTGTG 2 . . . . . . . intronic\x3bintronic\x3bintronic . . . 0.1093 4 +chr15 63358047 TPM1 C A 3 . . . . . . . intronic . . . . 8 +chr15 63362179 TPM1 G A 2 0.0247604 . . . . 0.0002 . UTR3 . 0.0005 0.0003 0.0001 -2 +chr15 63363394 TPM1 ATTCTTTCGT ATTCTTTCATTTTGTTTTGT,TTTCTTTCGT 2 . . . . . . . UTR3 . . . . 4 +chr15 63363395 TPM1 TTCTTTCGT TTCTTTCATTTTGTTTTGT 2 0.127396 . . . . 0.5264 . UTR3\x3bUTR3\x3bUTR3\x3bUTR3 . . . 0.5107 -2 +chr15 63363399 TPM1 TTCGT TTCATTTTGTTTTGT,TTCATTTTGT 2 0.32528 . . . . 0.2517 . UTR3\x3bUTR3 . . . 0.2721 -2 +chr15 63363401 TPM1 CGT CATTTTGTTTTGT,CATTTTGT 2 0.32528 . . . . 0.2517 . UTR3\x3bUTR3 . . . 0.2721 -2 +chr15 66679649 MAP2K1 TCCCCCCGGA TCCCCCCCGGA,GCCCCCCGGA 2 . . . . . . . UTR5 . . . . 4 +chr15 66679691 MAP2K1 C T 1 . . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Likely_benign 0.0003 synonymous_SNV exonic . . 0.0002 0.0005 2 +chr15 66679798 MAP2K1 C G 3 0.00758786 . . . . 0.0170 . intronic . 0.0140 0.0197 0.0254 -2 +chr15 66679819 MAP2K1 G C 23 0.0361422 . . . . . . intronic . . . 0.0861 -2 +chr15 66729107 MAP2K1 C T 4 0.000399361 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign 0.0010 synonymous_SNV exonic . 0.0006 0.0013 0.0005 4 +chr15 66729250 MAP2K1 C T 12 0.0191693 . MedGen:CN169374 not_specified Benign 0.0276 . intronic . 0.0236 0.0270 0.0203 -2 +chr15 66777345 MAP2K1 G A 1 0.00539137 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign 0.0169 synonymous_SNV exonic . 0.0207 0.0178 0.0174 -2 +chr15 66779573 MAP2K1 A G 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr15 66779698 MAP2K1 C T 30 0.0900559 . . . . . . intronic . 0.0893 . 0.0890 -2 +chr15 66782048 MAP2K1 C T 30 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 -2 +chr15 66782108 MAP2K1 CTATTTATTC CTATTC 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 +chr15 73614834 HCN4 T C 215 0.859625 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.9274 synonymous_SNV exonic . 0.9344 0.9315 0.9391 -2 +chr15 73615097 HCN4 T C 4 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 -2 +chr15 73615205 HCN4 C T 1 . 4.641 . . . 8.7e-05 nonsynonymous_SNV exonic D . 7.372e-05 . 7 +chr15 73615298 HCN4 A C 1 . 2.959 . . . . nonsynonymous_SNV exonic T . . . 4 +chr15 73615311 HCN4 GGCA GTCT 2 . . . . . . nonframeshift_substitution exonic . . . . 4 +chr15 73615314 HCN4 A C,G 2 . . . . . . synonymous_SNV exonic . . . . 4 +chr15 73615322 HCN4 A T 2 . 5.117 . . . . nonsynonymous_SNV exonic D . . . 10 +chr15 73615634 HCN4 G A 1 0.000798722 4.639 MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 9.21e-05 nonsynonymous_SNV exonic D 0.0001 8.88e-05 6.696e-05 3 +chr15 73615786 HCN4 G C 1 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 -2 +chr15 73615788 HCN4 T G 31 . . . . . . synonymous_SNV exonic . . . . 12 +chr15 73615878 HCN4 C T 16 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 -2 +chr15 73616548 HCN4 G A 1 . . MedGen:CN169374 not_specified Uncertain_significance 0.0001 synonymous_SNV exonic . 0.0002 0.0001 0.0001 2 +chr15 73617315 HCN4 G A 1 . . MedGen:C2751083,OMIM:613123 Brugada_syndrome_8 Likely_benign 1.501e-05 synonymous_SNV exonic . 0.0001 9.019e-06 . 4 +chr15 73617403 HCN4 C T 1 . 4.896 . . . 1.498e-05 nonsynonymous_SNV exonic D . 1.79e-05 . 7 +chr15 73617804 HCN4 G T 1 0.00339457 . MedGen:CN169374 not_specified Benign 0.0099 . intronic . 0.0145 0.0111 0.0124 -2 +chr15 73621946 HCN4 G A 14 0.053115 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0937 synonymous_SNV exonic . 0.0910 0.0957 0.1067 -2 +chr15 73622049 HCN4 C T 1 0.000199681 . MedGen:CN230736 Cardiovascular_phenotype Likely_benign 4.5e-05 synonymous_SNV exonic . . 5.372e-05 0.0001 2 +chr15 73624454 HCN4 C T 1 . . . . . 0 . intronic . . 2.69e-05 0 4 +chr15 73624540 HCN4 G A 1 . . MedGen:CN169374 not_specified Likely_benign 0.0001 synonymous_SNV exonic . . 0.0002 . 2 +chr15 73635803 HCN4 G A 1 . 5.493 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Uncertain_significance 1.5e-05 nonsynonymous_SNV exonic D . 8.953e-06 . 10 +chr15 73660144 HCN4 GC TG 2 . . . . . . nonframeshift_substitution exonic . . . . 4 +chr15 73660150 HCN4 G C 2 . . . . . . synonymous_SNV exonic . . . . 4 +chr15 73660438 HCN4 G T 1 . . . . . . synonymous_SNV exonic . . 6.079e-05 . 4 +chr15 73660502 HCN4 GCCCCCT GCCTCCT,TCCCCCT 1 . 1.192 . . . . nonsynonymous_SNV exonic T . . . 4 +chr15 73660505 HCN4 CCCT TCCT 10 0.0249601 2.191 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1222 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T 0.0508 0.0637 0.0594 -2 +chr15 73660522 HCN4 CT CG 1 . . . . . . frameshift_deletion exonic . . . . 4 +chr15 73660523 HCN4 T G 2 . 3.655 . . . . nonsynonymous_SNV exonic D . . . 7 +chr15 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 0 +chr15 73660629 HCN4 T G 1 . . . . . . . UTR5 . . . . 4 +chr16 30908054 CTF1 T G 1 . . . . . . . intronic . . . . 4 +chr16 30908060 CTF1 T G 1 . . . . . . . intronic . . . . 4 +chr16 30908068 CTF1 T G 1 . . . . . . . intronic . . . . 4 +chr17 8192202 SLC25A35 C G 2 0.00179712 . MedGen:CN169374 not_specified Benign 0.0005 . UTR3 . 0.0006 0.0003 0.0002 0 +chr17 8192289 RANGRF C G 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr17 8192922 na C T 10 0.141573 . MedGen:CN169374 not_specified Benign 0.0422 . UTR3 . 0.0433 0.0388 0.0423 -2 +chr17 37821644 TCAP CGGAGGAGAAC CGGAGAAC 1 . . . . . 0.0015 nonframeshift_deletion exonic . 0.0206 0.0015 0.0014 -2 +chr17 37822045 TCAP C T 1 . 3.502 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1843791,OMIM:607487 Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1N Uncertain_significance 3.767e-05 nonsynonymous_SNV exonic T . 5.698e-05 . 4 +chr17 37822309 TCAP GCA GCC 8 . . . . . . frameshift_deletion\x3bframeshift_deletion exonic\x3bexonic . . . . 12 +chr17 37822310 TCAP CA CC 4 . . . . . . frameshift_deletion\x3bframeshift_deletion exonic\x3bexonic . . . . 8 +chr17 37822311 TCAP A C 152 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 -6 +chr17 39912141 JUP TCCAT TCCAA,GCCAT 152 . 3.443 . . . . nonsynonymous_SNV exonic T . . . 12 +chr17 39912145 JUP TGT AGT 172 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 -2 +chr17 39913645 JUP T C 178 0.717252 . MedGen:CN169374 not_specified Benign 0.7393 . intronic . 0.7456 0.7450 0.7532 -2 +chr17 39913700 JUP G A 1 . . . . . . synonymous_SNV exonic . . 1.79e-05 . 4 +chr17 39913754 JUP G A 1 . . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Likely_benign 7.492e-05 synonymous_SNV exonic . 0.0002 0.0001 0.0003 2 +chr17 39913771 JUP C T 2 0.00259585 4.688 MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0112 nonsynonymous_SNV exonic T 0.0090 0.0119 0.0134 -2 +chr17 39913995 JUP G A 1 0.000199681 . MedGen:CN517202 not_provided Benign 1.563e-05 synonymous_SNV exonic . . 2.747e-05 . 2 +chr17 39923613 JUP GA GG 4 . . . . . . . intronic . . . . 8 +chr17 39923614 JUP A G 187 0.744209 . MedGen:CN169374 not_specified Benign 0.8096 . intronic . 0.8084 0.8138 0.8146 -2 +chr17 39923648 JUP C T 1 0.000399361 6.641 MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|not_provided Uncertain_significance 0.0001 nonsynonymous_SNV exonic T 0.0002 0.0002 6.672e-05 5 +chr17 39925230 JUP C T 1 . 7.378 . . . . nonsynonymous_SNV exonic T . 0 0 7 +chr17 39925383 JUP G A 1 0.000199681 6.684 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance 0 nonsynonymous_SNV exonic D 0.0001 0 0 8 +chr17 39925713 JUP C T 25 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 1 +chr17 39925726 JUP C T 1 . 7.255 . . . 3.428e-05 nonsynonymous_SNV exonic T . 5.479e-05 6.672e-05 7 +chr17 39925733 JUP G A 1 0.0271565 . 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 0.0003 synonymous_SNV exonic . 0.0002 0.0003 0.0003 -2 +chr17 39925888 JUP G A 1 . 6.000 . . . 1.914e-05 nonsynonymous_SNV exonic T . 1.926e-05 6.676e-05 7 +chr17 39925925 JUP AT GT 185 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 -2 +chr17 48243384 SGCA G A 1 0.000199681 . MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62 Limb-girdle_muscular_dystrophy,_type_2D Uncertain_significance 4.542e-05 . UTR5 . . 3.672e-05 . 2 +chr17 48243461 SGCA G A 15 0.0283546 . MedGen:CN169374 not_specified Likely_benign 0.0694 . intronic . 0.0627 0.0692 0.0713 -2 +chr17 48243502 SGCA GAC GAT,TAC 15 . . . . . . . intronic . . . . 12 +chr17 48243503 SGCA AC AT,CC 15 . . . . . . . intronic . . . . 12 +chr17 48243504 SGCA C T 226 0.988618 . . . . 0.9998 . intronic . 0.9997 0.9998 0.9998 -2 +chr17 48244781 SGCA A G 1 . . . . . 1.501e-05 synonymous_SNV exonic . . 8.954e-06 0.0001 4 +chr17 48244875 SGCA G T 1 . . . . . . . intronic . . . . 4 +chr17 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 3 +chr17 48246548 SGCA C G 4 0.000199681 2.090 MedGen:CN169374 not_specified Uncertain_significance 0.0005 nonsynonymous_SNV exonic D 0.0001 0.0004 0.0006 7 +chr17 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 -2 +chr17 48247699 SGCA C T 1 . 8.345 . . . . nonsynonymous_SNV exonic D . 0 . 10 +chr17 48248083 SGCA C A 1 0.00179712 . . . . . . intronic . 0.0057 . 0.0155 0 +chr17 48252804 SGCA T C 223 0.921925 . MedGen:CN169374 not_specified Benign 0.9620 . UTR3 . 0.9589 0.9611 0.959 -2 +chr17 68171597 KCNJ2 C A 1 . . . . . 5.993e-05 synonymous_SNV exonic . . 3.581e-05 . 4 +chr17 68172326 KCNJ2 C T 22 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 -2 +chr17 78078656 GAA G A 4 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 -2 +chr17 78078708 GAA GT GC 2 . . . . . . frameshift_deletion exonic . . . . 4 +chr17 78078709 GAA T C 186 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 -2 +chr17 78079544 GAA C G 188 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 -2 +chr17 78079597 GAA A G 188 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 +chr17 78079643 GAA C T 77 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 +chr17 78079669 GAA G A 188 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 +chr17 78079710 GAA G C 2 0.000599042 . MedGen:CN169374 not_specified Likely_benign 0.0016 . intronic . 0.0010 0.0015 0.0015 0 +chr17 78081352 GAA G T 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 0.0001 . intronic . 0.0002 0.0002 0.0001 2 +chr17 78081515 GAA G A 5 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 exonic . 0.0120 0.0102 0.0095 -2 +chr17 78081526 GAA AGC AGCAGCGGGC 144 . . . . . . . intronic . . . . 12 +chr17 78081529 GAA G A 57 . . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.0047 . intronic . . 0.0078 0.0001 8 +chr17 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 +chr17 78081661 GAA A T 25 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 +chr17 78081707 GAA G A 188 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 +chr17 78082221 GAA C T 2 0.00519169 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0152 . intronic . 0.0166 0.0162 0.0136 -2 +chr17 78082503 GAA AG AA 6 . . . . . . frameshift_deletion exonic . . . . 12 +chr17 78082504 GAA G A 183 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 +chr17 78083724 GAA ACA ACG,CCA 183 . . . . . . . intronic . . . . 12 +chr17 78083725 GAA CA CG 20 . . . . . . . intronic\x3bintronic . . . . 12 +chr17 78083726 GAA A G 167 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 -2 +chr17 78083791 GAA C T 25 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 +chr17 78083834 GAA G A 2 0.000199681 5.282 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002 Glycogen_storage_disease,_type_II Uncertain_significance 3.102e-05 nonsynonymous_SNV exonic D 0.0001 1.806e-05 . 8 +chr17 78084505 GAA CTG CTC 14 . . . . . . . intronic\x3bintronic . . . . 12 +chr17 78084506 GAA TG TC 4 . . . . . . . intronic\x3bintronic . . . . 8 +chr17 78084507 GAA G C 170 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 +chr17 78084592 GAA A G 1 . 1.170 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Uncertain_significance 0.0001 nonsynonymous_SNV exonic D 0.0002 9.854e-05 0.0002 5 +chr17 78084769 GAA G A 61 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 -2 +chr17 78084781 GAA C T 1 0.000199681 . 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 0.0001 synonymous_SNV exonic . 0.0001 0.0002 6.68e-05 2 +chr17 78085911 GAA G A 7 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 +chr17 78086359 GAA T C 1 0.000599042 . MedGen:CN169374 not_specified Likely_benign 0.0009 . intronic . 0.0010 0.0010 0.0011 0 +chr17 78086452 GAA C T 1 0.000599042 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.0022 synonymous_SNV exonic . 0.0012 0.0018 0.0045 0 +chr17 78086531 GAA G A 7 0.0778754 . MedGen:CN169374 not_specified Benign 0.0543 . intronic . 0.0313 0.0403 0.0469 -2 +chr17 78086718 GAA C T 2 . . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Likely_benign 0.0001 synonymous_SNV exonic . . 7.431e-05 0.0001 4 +chr17 78086846 GAA AT GT 190 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 -2 +chr17 78087028 GAA G A 2 0.000199681 . 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 0.0001 synonymous_SNV exonic . . 8.05e-05 0.0001 2 +chr17 78087041 GAA G A 7 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 -2 +chr17 78087108 GAA CA CG 2 . . . . . . frameshift_deletion exonic . . . . 4 +chr17 78087109 GAA A G 91 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 +chr17 78090928 GAA GCCCT ACCCT,ACCCC 91 . . . . . . . intronic . . . . 12 +chr17 78091405 GAA GTAGA ATAGA 190 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 +chr17 78091484 GAA C T 1 . 3.502 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Uncertain_significance 0.0005 nonsynonymous_SNV exonic T 0.0006 0.0005 0.0005 0 +chr17 78091984 GAA C G 1 . . . . . . . intronic . . 0 . 4 +chr17 78092060 GAA TGGG TGGA,GGGG 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr17 78092061 GAA GGG GGA 20 . . . . . . frameshift_deletion\x3bframeshift_deletion exonic\x3bexonic . . . . 12 +chr17 78092063 GAA G A 147 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 -2 +chr18 3067278 MYOM1 A G 107 0.594449 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.5350 synonymous_SNV exonic . 0.4664 0.4685 0.4680 -2 +chr18 3067299 MYOM1 G A 2 0.000599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN230736 Hypertrophic_cardiomyopathy|Cardiovascular_phenotype Benign/Likely_benign 0.0002 synonymous_SNV exonic . 0.0002 0.0001 0.0001 0 +chr18 3071836 MYOM1 C T 1 . 5.869 . . . . nonsynonymous_SNV exonic D . . . 10 +chr18 3075501 MYOM1 GACGA GACAAAGA,AACGA 1 . . . . . . . intronic . . . . 4 +chr18 3075502 MYOM1 ACGA ACAAAGA 2 0.992612 . . . . 0.9942 . intronic\x3bintronic\x3bintronic . 0.9933 0.9933 0.9926 -2 +chr18 3075503 MYOM1 CGA CAAAGA 224 0.992612 . . . . 0.9942 . intronic\x3bintronic\x3bintronic . 0.9933 0.9933 0.9926 -2 +chr18 3075554 MYOM1 T C 18 0.193291 . . . . . . intronic . 0.1216 . 0.1261 -2 +chr18 3075712 MYOM1 C A 109 0.622804 . MedGen:CN169374 not_specified Benign 0.4972 . intronic . 0.4632 0.4549 0.4613 -2 +chr18 3075746 MYOM1 G A 46 0.183506 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2178 synonymous_SNV exonic . 0.1697 0.1666 0.1958 -2 +chr18 3075778 MYOM1 A C 46 0.183506 . . . . 0.2071 . intronic . 0.1614 0.1681 0.1960 -2 +chr18 3083922 MYOM1 A C 4 0.00279553 . . . . 0.0089 . intronic . 0.0044 0.0036 0.0033 4 +chr18 3086065 MYOM1 C T 6 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 1 +chr18 3089123 MYOM1 CTATTTTATTTC CTATTTC 6 0.0696885 . . . . 0.0829 . intronic . 0.0724 0.0823 0.0798 -2 +chr18 3089521 MYOM1 CG CT 4 . . . . . . . intronic . . . . 8 +chr18 3089522 MYOM1 G T 192 0.800319 . MedGen:CN169374 not_specified Benign 0.8049 . intronic . 0.7970 0.7995 0.8176 -2 +chr18 3089559 MYOM1 G A 1 . 5.515 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569 Hypertrophic_cardiomyopathy Uncertain_significance 1.575e-05 nonsynonymous_SNV exonic T . 1.804e-05 0 7 +chr18 3090761 MYOM1 C T 1 . 6.701 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569 Hypertrophic_cardiomyopathy Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 0.0001 0 7 +chr18 3100429 MYOM1 G A 111 0.348043 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.4710 . intronic . 0.4470 0.4467 0.4390 -2 +chr18 3112406 MYOM1 C T 2 0.000199681 1.986 MedGen:CN169374 not_specified Likely_benign 6.154e-05 nonsynonymous_SNV exonic T 0.0001 5.545e-05 . 2 +chr18 3126811 MYOM1 A G 54 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 -2 +chr18 3129297 MYOM1 C T 2 0.000599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0034 synonymous_SNV exonic . 0.0034 0.0036 0.0023 0 +chr18 3129307 MYOM1 T G 1 . -1.114 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN230736 Hypertrophic_cardiomyopathy|Cardiovascular_phenotype Uncertain_significance 0.0002 nonsynonymous_SNV exonic T . 0.0003 0.0002 2 +chr18 3129309 MYOM1 T C 1 0.000798722 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569 Hypertrophic_cardiomyopathy Benign 0.0004 synonymous_SNV exonic . 0.0006 0.0005 0.0004 0 +chr18 3129368 MYOM1 T C 2 . -0.620 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Likely_benign 0.0009 nonsynonymous_SNV exonic T 0.0010 0.0010 0.0007 0 +chr18 3129535 MYOM1 C T 2 0.00199681 . . . . 0.0051 . intronic . 0.0042 0.0050 0.0039 0 +chr18 3134826 MYOM1 A C 4 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 +chr18 3141991 MYOM1 G A 3 0.000199681 . . . . 9.013e-05 synonymous_SNV exonic . . 0.0001 6.666e-05 6 +chr18 3149115 MYOM1 T C 1 . . . . . 1.501e-05 . intronic . . 2.686e-05 6.665e-05 4 +chr18 3151681 MYOM1 A T 1 . . . . . 9.201e-05 . intronic . . 0.0001 . 4 +chr18 3155098 MYOM1 G A 1 0.00119808 . . . . 0.0003 . intronic . 0.0002 0.0002 6.662e-05 0 +chr18 3164385 MYOM1 C T 44 0.16873 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2406 synonymous_SNV exonic . 0.2072 0.2097 0.1874 -2 +chr18 3164441 MYOM1 G T 1 0.000399361 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569 Hypertrophic_cardiomyopathy Likely_benign 0.0004 . intronic . . 0.0004 0.0003 2 +chr18 3168816 MYOM1 G A 58 0.282149 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2619 synonymous_SNV exonic . 0.2648 0.2633 0.2740 -2 +chr18 3173964 MYOM1 G A 58 0.316094 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3103 synonymous_SNV exonic . 0.3157 0.3126 0.3221 -2 +chr18 3174018 MYOM1 C T 43 0.192292 . . . . 0.2474 . intronic . 0.2582 0.2517 0.2667 -2 +chr18 3174056 MYOM1 C A 58 0.315695 . . . . . . intronic . 0.3240 . 0.3206 -2 +chr18 3174064 MYOM1 G T 43 0.191893 . . . . . . intronic . 0.2652 . 0.2669 -2 +chr18 3174076 MYOM1 AACACACACACACT AACACACACACACACT,AACACACACATACACT 43 0.0810703 . . . . 0.0610 . intronic . 0.0564 0.0595 0.0536 -2 +chr18 3174084 MYOM1 CA CATA 8 . . . . . . . intronic . . . . 12 +chr18 3174238 MYOM1 G A 8 0.00958466 . . . . 0.0310 . intronic . 0.0269 0.0297 0.0245 -2 +chr18 3176017 MYOM1 C T 43 0.191693 . . . . 0.2501 . intronic . 0.2556 0.2417 0.2665 -2 +chr18 3176040 MYOM1 C G 154 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 -2 +chr18 3176063 MYOM1 C T 57 0.273163 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3057 synonymous_SNV exonic . 0.3116 0.3079 0.3207 -2 +chr18 3188778 MYOM1 C T 4 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 7 +chr18 3188857 MYOM1 A G,C 4 . . . . . . synonymous_SNV exonic . . . . 8 +chr18 3188873 MYOM1 G A,T 4 . -0.720 . . . . nonsynonymous_SNV exonic T . . . 8 +chr18 3188976 MYOM1 A G 82 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 -2 +chr18 3214917 MYOM1 GG GC 4 . . . . . . . intronic . . . . 8 +chr18 3214918 MYOM1 G C 42 0.286142 . MedGen:CN169374 not_specified Benign 0.2851 . intronic . 0.2615 0.2774 0.2847 -2 +chr18 3215030 MYOM1 C A 13 0.0730831 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0652 synonymous_SNV exonic . 0.0565 0.0642 0.0665 -2 +chr18 3215156 MYOM1 CAC GAG 13 . . . . . . nonframeshift_substitution exonic . . . . 12 +chr18 3215230 MYOM1 C T 39 0.335663 . MedGen:CN169374 not_specified Benign 0.2652 . UTR5 . 0.2245 0.2252 0.2306 -2 +chr18 9117796 NDUFV2 G A 1 . . . . . . . intronic . . . . 4 +chr18 9117867 NDUFV2 T C 198 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 -2 +chr18 9119489 NDUFV2 A T 26 0.0750799 . MedGen:C1838979,OMIM:252010|MedGen:CN169374 Mitochondrial_complex_I_deficiency|not_specified Likely_benign 0.1029 synonymous_SNV exonic . 0.1129 0.1060 0.0999 -2 +chr18 19378178 MIB1 A G 1 0.000199681 2.579 . . . 3.002e-05 nonsynonymous_SNV exonic T . 0.0001 0.0002 2 +chr18 19383888 MIB1 C T 1 . . . . . . synonymous_SNV exonic . . 0 . 4 +chr18 19383966 MIB1 C T 1 0.000798722 . MedGen:C3554496,OMIM:615092 Left_ventricular_noncompaction_7 Likely_benign 6.176e-05 synonymous_SNV exonic . . 4.493e-05 0 0 +chr18 19418308 MIB1 T C 2 . . MedGen:C3554496,OMIM:615092 Left_ventricular_noncompaction_7 Benign 0.0003 . intronic . 0.0005 0.0003 0.0004 0 +chr18 19418475 MIB1 A G 1 0.00878594 . MedGen:C3554496,OMIM:615092|MedGen:CN169374 Left_ventricular_noncompaction_7|not_specified Benign 6.136e-05 . intronic . 0.0002 6.011e-05 6.66e-05 0 +chr18 19427096 MIB1 A G 26 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 +chr18 19429174 MIB1 G A 1 0.000399361 3.448 MedGen:CN169374 not_specified Uncertain_significance 0.0005 nonsynonymous_SNV exonic T 0.0002 0.0005 0.0003 0 +chr18 28647999 DSC2 TTCT TTCTCT 5 . . . . . . frameshift_insertion exonic . . . . 12 +chr18 28648975 DSC2 C T 10 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 -2 +chr18 28649042 DSC2 T C 10 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 -2 +chr18 28651588 DSC2 C T 1 . 6.930 . . . . nonsynonymous_SNV exonic T . . . 7 +chr18 28660232 DSC2 T C 1 0.000199681 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1864850,OMIM:610476|MedGen:CN169374 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified Benign/Likely_benign 0.0047 synonymous_SNV exonic . 0.0043 0.0041 0.0026 0 +chr18 28666526 DSC2 TTG TTAATG 230 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 -2 +chr18 28666574 DSC2 C T 1 0.00299521 5.929 MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0004 nonsynonymous_SNV exonic T 0.0002 0.0004 0.0005 3 +chr18 28672067 DSC2 T C 2 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 -2 +chr18 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 -2 +chr18 28681903 DSC2 T C,G 25 . 0.576 . . . . nonsynonymous_SNV exonic T . . . 12 +chr18 29078160 DSG2 G C 1 0.000399361 . MedGen:CN239181|MedGen:CN239310 Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Uncertain_significance . . UTR5 . . . 0.0027 2 +chr18 29078333 DSG2 C G,A 1 . . . . . . . intronic . . . . 4 +chr18 29101156 DSG2 T G 2 0.00139776 4.014 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:C1862511,OMIM:107970|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|Arrhythmogenic_right_ventricular_dysplasia,_familial_1|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0078 nonsynonymous_SNV exonic T 0.0079 0.0080 0.0096 0 +chr18 29101213 DSG2 GTCTTTTTTTTTTTTTTTAATAAATAAATAC GTCTTTTTTTTTTTTTTAAATAAATAAATAC,GTCTTTTTTTTTTTTTTAATAAATAAATAC,TTTTTTTTTTTTTTTTTTAATAAATAAATAC,TTCTTTTTTTTTTTTTTTAATAAATAAATAC 2 . . . . . . . intronic . . . . 4 +chr18 29101214 DSG2 TCTTTTTTTTTTTTTTTAATAAATAAATAC TCTTTTTTTTTTTTTTAAATAAATAAATAC,TCTTTTTTTTTTTTTTAATAAATAAATAC,TTTTTTTTTTTTTTTTTAATAAATAAATAC 2 . . MedGen:CN169374 not_specified Benign . . intronic . . 0.0006 . 0 +chr18 29101215 DSG2 CTTTTTTTTTTTTTTTA CTTTTTTTTTTTTTA,CTTTTTTTTTTTTTTA 2 . . MedGen:CN169374 not_specified Uncertain_significance 0.3557 . intronic\x3bintronic\x3bintronic . . 0.3808 0.0109 -2 +chr18 29104564 DSG2 C A 48 0.211462 . MedGen:CN169374 not_specified Benign 0.2552 . intronic . 0.2609 0.2574 0.2649 -2 +chr18 29104698 DSG2 C T 86 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 -6 +chr18 29104711 DSG2 C T 1 . 6.475 MedGen:C1857777,OMIM:610193 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10 Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic T . 3.587e-05 . 7 +chr18 29104714 DSG2 A G 19 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 -6 +chr18 29118769 DSG2 G C 1 . 0.970 . . . 5.997e-05 nonsynonymous_SNV exonic T 0.0001 7.184e-05 . 4 +chr18 29122618 DSG2 G A 8 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 -2 +chr18 29122750 DSG2 A G 1 . -1.248 . . . . nonsynonymous_SNV exonic T . . . 4 +chr18 29122799 DSG2 G A 44 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 -6 +chr18 29125854 DSG2 A G 37 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 -6 +chr18 29126108 DSG2 T G 1 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 0 +chr18 29126485 DSG2 G A 1 0.000199681 6.839 . . . 0 nonsynonymous_SNV exonic D . . . 8 +chr18 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 -6 +chr18 29126615 DSG2 G T 1 . 2.927 MedGen:CN517202 not_provided Uncertain_significance 4.5e-05 nonsynonymous_SNV exonic T . 3.59e-05 . 4 +chr18 29126670 DSG2 T C 87 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 -6 +chr18 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 -2 +chr18 29178513 TTR G C 9 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 -2 +chr18 29178564 TTR C T 1 . 5.947 MedGen:C2751492,OMIM:105210,SNOMED_CT:43532007,SNOMED_CT:442012008|MedGen:CN169374 Amyloidogenic_transthyretin_amyloidosis|not_specified Uncertain_significance 4.498e-05 nonsynonymous_SNV exonic D . 3.583e-05 0 10 +chr18 29178610 TTR C T 1 0.000998403 6.978 .|MedGen:C2751492,OMIM:105210,SNOMED_CT:43532007,SNOMED_CT:442012008|MedGen:CN169374|MedGen:CN230736 AMYLOIDOSIS,_HEREDITARY,_TRANSTHYRETIN-RELATED,_MODIFIER_OF|Amyloidogenic_transthyretin_amyloidosis|not_specified|Cardiovascular_phenotype Benign/Likely_benign,_risk_factor 0.0025 nonsynonymous_SNV exonic D 0.0028 0.0029 0.0019 6 +chr18 32335915 DTNA A G 13 0.0479233 . MedGen:CN169374 not_specified Benign 0.0835 . intronic . 0.0780 0.0825 0.0878 -2 +chr18 32391951 DTNA T A 1 . 2.139 . . . . nonsynonymous_SNV exonic T . . . 4 +chr18 32391984 DTNA C G 1 . 4.609 . . . . nonsynonymous_SNV exonic T . . . 4 +chr18 32392092 DTNA T C 1 . . MedGen:CN169374 not_specified Likely_benign 0.0002 . intronic . 0.0002 0.0001 0.0001 2 +chr18 32395859 DTNA G T 1 0.00139776 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1858725,OMIM:604169|MedGen:CN169374 Left_ventricular_noncompaction_cardiomyopathy|Left_ventricular_noncompaction_1|not_specified Benign/Likely_benign 0.0013 . intronic . . 0.0016 0.0011 0 +chr18 32400909 DTNA ACA AA 20 0.114617 . . . . 0.1093 . intronic . 0.1147 0.1120 0.1290 -2 +chr18 32407531 DTNA T G 1 . . . . . 8.993e-05 . intronic . . 5.373e-05 . 4 +chr18 32408968 DTNA C A 1 0.000599042 . . . . 0.0014 . intronic . 0.0011 0.0016 0.0015 0 +chr18 32418186 DTNA T A 57 0.204073 . . . . 0.2563 . intronic . 0.2615 0.2592 0.2637 -2 +chr18 32418752 DTNA C T 1 0.00119808 2.625 Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1858725,OMIM:604169|MedGen:CN169374|MedGen:CN517202 Left_ventricular_noncompaction_cardiomyopathy|Left_ventricular_noncompaction_1|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0021 nonsynonymous_SNV exonic T 0.0028 0.0022 0.0026 0 +chr18 32418812 DTNA G C 1 . . . . . . . intronic . . . . 4 +chr18 32428317 DTNA G A 1 . . MedGen:C1858725,OMIM:604169|MedGen:CN169374 Left_ventricular_noncompaction_1|not_specified Likely_benign 0.0005 synonymous_SNV exonic . 0.0005 0.0003 0.0003 0 +chr18 32444040 DTNA G A 74 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 -2 +chr18 32455193 DTNA G T 1 0.000798722 . MedGen:C1858725,OMIM:604169|MedGen:CN169374|MedGen:CN517202 Left_ventricular_noncompaction_1|not_specified|not_provided Benign/Likely_benign 0.0026 . intronic . . 0.0023 0.0028 0 +chr18 32455379 DTNA T C 24 0.128195 . MedGen:CN169374 not_specified Benign 0.1218 . intronic . 0.1264 0.1216 0.1417 -2 +chr18 32459615 DTNA G A 1 . . MedGen:CN169374 not_specified Likely_benign 0 synonymous_SNV exonic . . 8.953e-06 0 4 +chr18 32459697 DTNA G A 1 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 -2 +chr18 32464661 DTNA C G 1 . . . . . 1.498e-05 . intronic . . 8.96e-06 . 4 +chr18 32470291 DTNA G A 61 0.266973 2.442 MedGen:CN169374 not_specified Benign 0.2485 nonsynonymous_SNV exonic . . 0.2083 0.1994 -2 +chr18 34081864 FHOD3 A C 1 0.000998403 . . . . 0.0003 . intronic . . 0.0002 0.0001 0 +chr18 34092370 FHOD3 T A 1 . . . . . 6.418e-05 . intronic . . 5.402e-05 . 4 +chr18 34205551 FHOD3 C T 17 0.0872604 2.410 . . . 0.0594 synonymous_SNV exonic . 0.0604 0.0583 0.0555 -2 +chr18 34205572 FHOD3 C T 1 0.000399361 2.130 . . . 1.531e-05 synonymous_SNV exonic . 0.0001 2.816e-05 6.676e-05 2 +chr18 34205604 FHOD3 G A 1 . 7.412 . . . 7.554e-05 nonsynonymous_SNV exonic T . 9.075e-05 6.671e-05 7 +chr18 34232543 FHOD3 G A 11 0.0165735 -0.091 . . . 0.0383 nonsynonymous_SNV exonic . . 0.0274 0.0249 -2 +chr18 34232610 FHOD3 C T 59 0.319489 1.357 . . . 0.3083 nonsynonymous_SNV exonic . . 0.2812 0.2817 -2 +chr18 34232657 FHOD3 G A 41 0.0702875 -0.089 . . . 0.1429 nonsynonymous_SNV exonic . . 0.1779 0.1720 -2 +chr18 34238099 FHOD3 C T 2 0.000599042 1.651 . . . 0.0003 nonsynonymous_SNV exonic T 0.0001 0.0003 6.665e-05 0 +chr18 34238130 FHOD3 C G 1 0.000599042 0.801 . . . 0.0006 nonsynonymous_SNV exonic T 0.0003 0.0005 0.0006 0 +chr18 34261511 FHOD3 C T 1 0.00678914 7.580 . . . 0.0113 nonsynonymous_SNV exonic T 0.0095 0.0108 0.0157 1 +chr18 34273279 FHOD3 C G 46 0.0902556 1.318 . . . 0.1783 nonsynonymous_SNV exonic T 0.1810 0.1802 0.1770 -2 +chr18 34273372 FHOD3 C T 1 . -0.648 . . . 1.599e-05 nonsynonymous_SNV exonic T . 1.804e-05 0 4 +chr18 34289098 FHOD3 G A 1 . . . . . 1.516e-05 synonymous_SNV exonic . 0.0001 1.797e-05 0 4 +chr18 34289142 FHOD3 A G 4 0.014976 -1.504 . . . 0.0385 nonsynonymous_SNV exonic T 0.0335 0.0360 0.0318 -2 +chr18 34289285 FHOD3 G T 5 0.00579073 4.122 . . . 0.0200 nonsynonymous_SNV exonic T 0.0236 0.0220 0.0223 -2 +chr18 34289364 FHOD3 G A 42 0.0760783 . . . . 0.1804 . intronic . 0.1782 0.1801 0.1765 -2 +chr18 34297806 FHOD3 G A 1 . -0.286 . . . 1.555e-05 nonsynonymous_SNV exonic T . 2.977e-05 0 4 +chr18 34297819 FHOD3 ATGCAGGT AT 1 . . . . . . nonframeshift_deletion exonic . . . . 4 +chr18 34297907 FHOD3 G A 1 . . . . . 1.502e-05 synonymous_SNV exonic . . 8.959e-06 . 4 +chr18 34298542 FHOD3 G A 2 0.00379393 3.308 . . . 0.0018 nonsynonymous_SNV exonic T 0.0023 0.0022 0.0017 0 +chr18 34298574 FHOD3 C T 1 0.000599042 3.840 . . . 1.499e-05 nonsynonymous_SNV exonic T . 1.79e-05 0 0 +chr18 34310668 FHOD3 C T 66 0.319489 . . . . 0.3239 synonymous_SNV exonic . 0.3427 0.3299 0.3368 -2 +chr18 34324091 FHOD3 G A 61 0.376198 3.145 . . . 0.3054 nonsynonymous_SNV exonic T 0.3263 0.3112 0.3166 -2 +chr19 16589950 CALR3 C T 1 . 3.769 . . . 1.498e-05 nonsynonymous_SNV exonic T 0.0001 1.79e-05 . 4 +chr19 16590094 CALR3 A G 1 0.00299521 . MedGen:C3151266,OMIM:613875|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_provided Benign 0.0005 . intronic . 0.0003 5.373e-05 6.684e-05 0 +chr19 16591462 CALR3 GCG GCA 2 . . . . . . stopgain\x3bstopgain exonic\x3bexonic . . . . 4 +chr19 16591463 CALR3 CG CA,AG 2 . 4.167 . . . . nonsynonymous_SNV exonic T . . . 4 +chr19 16591464 CALR3 G A 156 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 -2 +chr19 16593359 CALR3 C T 2 0.0421326 0.011 MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0048 nonsynonymous_SNV exonic T 0.0059 0.0044 0.0038 -2 +chr19 16593415 CALR3 G A 178 0.660144 . . . . 0.7113 . intronic . 0.7048 0.7067 0.7043 -2 +chr19 16593573 CALR3 G A 31 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 +chr19 16601168 CALR3 G A 24 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 +chr19 16601194 CALR3 C T 178 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 +chr19 16606821 CALR3 C T 1 0.000798722 . . . . 0.0055 . intronic . 0.0028 0.0040 0.0024 0 +chr19 16606881 CALR3 G C 1 0.000199681 . MedGen:C3151266,OMIM:613875|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_19|Cardiovascular_phenotype Benign/Likely_benign 0.0013 synonymous_SNV exonic . 0.0002 0.0008 0.0004 0 +chr19 35523454 SCN1B C T 1 . . MedGen:C2748541,OMIM:612838|MedGen:CN169374 Brugada_syndrome_5|not_specified Benign/Likely_benign 0.0001 synonymous_SNV exonic . . 9.883e-05 . 4 +chr19 35524824 SCN1B T C 105 0.377596 -0.608 MedGen:CN169374 not_specified Benign 0.4522 nonsynonymous_SNV exonic T 0.3721 0.3838 0.3918 -2 +chr19 35524939 SCN1B C A 38 0.127396 3.869 MedGen:CN169374 not_specified Benign 0.1818 nonsynonymous_SNV exonic T 0.1455 0.1515 0.1693 -2 +chr19 35524944 SCN1B G C 38 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 -2 +chr19 35524964 SCN1B G A 1 0.000199681 -1.373 MedGen:C2748541,OMIM:612838|MedGen:CN169374 Brugada_syndrome_5|not_specified Benign/Likely_benign 0.0035 nonsynonymous_SNV exonic T 0.0032 0.0024 0.0039 0 +chr19 35524989 SCN1B G A 1 . 2.285 . . . . nonsynonymous_SNV exonic T . 0 . 4 +chr19 35530073 SCN1B T C 9 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 +chr19 35530514 SCN1B T G 6 0.0081869 . . . . 0.0144 . intronic . 0.015 0.0144 0.0155 -2 +chr19 35530525 SCN1B C A 6 0.00798722 . MedGen:CN169374 not_specified Benign 0.0145 . intronic . 0.0151 0.0145 0.0156 -2 +chr19 35530617 SCN1B C T 1 0.000399361 . MedGen:CN169374 not_specified Likely_benign 0.0009 . intronic . 0.0015 0.0012 0.0009 0 +chr19 35530641 SCN1B G A 4 0.000399361 . . . . 0.0052 . intronic . 0.0041 0.0037 0.0021 4 +chr19 46273462 DMPK CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 4 . . . . . . . UTR3 . . . . 8 +chr19 46273480 DMPK G T 4 . . . . . . . UTR3 . . . . 8 +chr19 46273481 DMPK C T 2 . . . . . . . UTR3 . . . . 4 +chr19 46273482 DMPK A C 23 . . . . . . . UTR3 . . . . 12 +chr19 46273483 DMPK G C 9 . . . . . . . UTR3 . . . . 12 +chr19 46273488 DMPK AGCAGCAGCAG TACAAGGAGCAG,TACAAGGACCCTT 9 . . . . . . . UTR3 . . . . 12 +chr19 46273489 DMPK G A,C 9 . . . . . . . UTR3 . . . . 12 +chr19 46273492 DMPK G A 1 . . . . . . . UTR3 . . . . 4 +chr19 46273493 DMPK C G 2 . . . . . . . UTR3 . . . . 4 +chr19 46273494 DMPK A C,G 2 . . . . . . . UTR3 . . . 8.042e-05 4 +chr19 46273495 DMPK G C 5 . . . . . . . UTR3 . . . . 12 +chr19 46273497 DMPK A C,T 5 . . . . . . . UTR3 . . . . 12 +chr19 46273500 DMPK A C,G 5 . . . . . . . UTR3 . . . 0 12 +chr19 46273501 DMPK G C 4 . . . . . . . UTR3 . . . . 8 +chr19 46273505 DMPK CAGCA CCCCA 8 . . . . . . . UTR3\x3bUTR3 . . . . 12 +chr19 46273506 DMPK AG CC,CG 8 . . . . . . . UTR3 . . . . 12 +chr19 46273507 DMPK G C 1 . . . . . . . UTR3 . . . 0 4 +chr19 46273824 DMPK C T 1 . 1.339 . . . . stopgain exonic . . 0 . 12 +chr19 46274196 DMPK A C 1 . . . . . . . intronic . . . . 4 +chr19 46274220 DMPK C T 1 . . . . . . . intronic . . 0 . 4 +chr19 46274357 DMPK G A 2 0.00299521 . . . . 0.0272 . intronic\x3bintronic . 0.0125 0.0143 0.0147 -2 +chr19 46274357 DMPK G A 1 0.00299521 . . . . 0.0272 . intronic\x3bintronic . 0.0125 0.0143 0.0147 -2 +chr19 46274624 DMPK G A 1 0.00559105 3.047 . . . 0.0161 nonsynonymous_SNV exonic T 0.0149 0.0168 0.0170 -2 +chr19 46275976 DMPK G C 18 0.145168 2.333 MedGen:CN169374 not_specified Benign 0.1182 nonsynonymous_SNV exonic T 0.1129 0.1127 0.1273 -2 +chr19 46278261 DMPK G A 1 0.000599042 2.314 . . . 0.0002 nonsynonymous_SNV exonic T . 0.0002 0.0001 0 +chr19 46280656 DMPK C T 1 . 2.708 . . . 4.653e-05 nonsynonymous_SNV exonic T 0.0001 1.811e-05 . 4 +chr19 46280768 DMPK C T 1 0.000399361 . . . . 0.0001 synonymous_SNV exonic . . 6.316e-05 0.0002 2 +chr19 46280785 DMPK G A 2 . 4.984 . . . 3.046e-05 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T . 1.805e-05 . 4 +chr19 46280785 DMPK G A 1 . 4.984 . . . 3.046e-05 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T . 1.805e-05 . 4 +chr19 46280917 DMPK G A 2 0.00599042 . MedGen:CN517202 not_provided Likely_benign 0.0044 . intronic . 0.0044 0.0045 0.0038 0 +chr19 46281385 DMPK C T 1 0.000599042 . . . . 0.0002 synonymous_SNV exonic . 0.0002 0.0002 6.669e-05 0 +chr19 46281386 DMPK G A 1 0.000798722 2.339 MedGen:CN169374 not_specified Likely_benign 0.0004 nonsynonymous_SNV exonic T 0.0003 0.0003 0.0003 0 +chr19 46281745 DMPK A G,C 1 . . . . . . . intronic . . . . 4 +chr19 46281913 DMPK C T 1 . . . . . 0.0001 . intronic . 0.0002 0.0001 6.684e-05 2 +chr19 46282503 DMPK A C 18 0.122604 . . . . 0.1229 . intronic . 0.1176 0.1199 0.1355 -2 +chr19 46282514 DMPK G C 2 . . . . . 1.502e-05 . intronic . . . . 4 +chr19 46282683 DMPK G A 2 0.0127796 . . . . 0.0086 . intronic . 0.0093 0.0092 0.0086 -2 +chr19 46283281 DMPK C T 1 . 2.858 . . . 0.0012 nonsynonymous_SNV exonic T 0.0004 3.533e-05 6.666e-05 0 +chr19 46285532 DMPK C T 1 . 2.617 . . . 8.332e-05 nonsynonymous_SNV exonic T . 4.066e-05 . 4 +chr19 47104678 CALM3 C A 6 0.00379393 . MedGen:CN169374 not_specified Benign 0.0292 . UTR5 . 0.0106 0.0177 0.0171 -2 +chr19 47104779 CALM3 A C 10 0.0249601 . . . . . . intronic . . . 0.0241 -2 +chr19 47109176 CALM3 A G 2 . . . . . . . intronic . 0.0016 . 0.0016 0 +chr19 47111722 CALM3 CTT CT 3 . . . . . . . intronic . . . . 8 +chr19 47112261 CALM3 C G 1 . . . . . . . intronic . . 0 . 4 +chr19 47112313 CALM3 T A 1 . . . . . . . intronic . . . . 4 +chr19 47112357 CALM3 CCTCTCTCTCTG CCTCTCTCTG 1 0.00599042 . MedGen:CN169374 not_specified Likely_benign 0.0179 . intronic . 0.0251 0.0189 0.0224 -2 +chr19 47258842 FKRP C T 37 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 -2 +chr19 47258899 FKRP C T 1 0.0129792 . MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:C1847759,OMIM:606612|MedGen:C3150413,OMIM:613153|MedGen:CN169374 Walker-Warburg_congenital_muscular_dystrophy|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 0.0002 synonymous_SNV exonic . 0.0001 0.0003 0.0001 -2 +chr19 47258956 FKRP C T 4 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 -2 +chr19 47259048 FKRP C G 4 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 1 +chr19 47259134 FKRP C A 3 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 1 +chr19 49661112 TRPM4 G A 52 0.150359 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871 not_specified|Progressive_familial_heart_block Benign/Likely_benign 0.3171 . UTR5 . . 0.2925 0.2875 -2 +chr19 49661545 TRPM4 AGA AGG,CGA 52 . . . . . . . intronic . . . . 12 +chr19 49661547 TRPM4 A G,C 52 . . . . . . . intronic . . . . 12 +chr19 49661580 TRPM4 GGT GGC 4 . . . . . . . intronic\x3bintronic . . . . 8 +chr19 49661581 TRPM4 GT GC 2 . . . . . . . intronic\x3bintronic . . . . 4 +chr19 49661582 TRPM4 TCA CCA,GCA 2 . . . . . . . intronic . . . . 4 +chr19 49669447 TRPM4 CGGGGGC CGGGGGGC 1 . . MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance 0.0001 frameshift_insertion exonic . 0.0002 5.83e-05 0.0001 2 +chr19 49669486 TRPM4 C G 3 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 -2 +chr19 49671207 TRPM4 G A 3 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 -2 +chr19 49671212 TRPM4 T G 3 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 -2 +chr19 49671251 TRPM4 G A 1 . . . . . 1.504e-05 synonymous_SNV exonic . . 1.794e-05 0 4 +chr19 49671279 TRPM4 TCG TCA,GCG 1 . 2.542 . . . . nonsynonymous_SNV exonic T . . . 4 +chr19 49671280 TRPM4 CG CA 5 . . . . . . frameshift_deletion\x3bframeshift_deletion exonic\x3bexonic . . 9.024e-06 . 12 +chr19 49671281 TRPM4 G A 10 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 -2 +chr19 49671503 TRPM4 C T 1 0.00938498 . MedGen:CN169374 not_specified Benign 0.0001 . intronic . 0.0005 9.857e-05 0.0002 0 +chr19 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 -2 +chr19 49671815 TRPM4 G A 1 0.00958466 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0012 synonymous_SNV exonic . 0.0009 0.0012 0.0007 0 +chr19 49671952 TRPM4 G A 2 . 3.589 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign 0.0083 nonsynonymous_SNV exonic T 0.0063 0.0059 0.0066 0 +chr19 49671980 TRPM4 G A 3 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 -2 +chr19 49674722 TRPM4 G A 1 0.00359425 . . . . 0.0091 . intronic . 0.0070 0.0083 0.0077 0 +chr19 49674841 TRPM4 G A 3 . 2.465 . . . 0.0001 nonsynonymous_SNV exonic T . 7.196e-05 . 8 +chr19 49674931 TRPM4 CTGGC CC 1 . . MedGen:CN206278,Orphanet:ORPHA871 Progressive_familial_heart_block Uncertain_significance 6.157e-05 nonframeshift_deletion exonic . 0.0001 0.0001 . 4 +chr19 49675017 TRPM4 G T 13 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 -2 +chr19 49675038 TRPM4 GGGGCCC GGGGCGGGCCC 3 0.0279553 . MedGen:CN206278,Orphanet:ORPHA871 Progressive_familial_heart_block Likely_benign 0.0030 . intronic . 0.0023 0.0024 0.0020 -2 +chr19 49675233 TRPM4 C T 15 0.0914537 . . . . 0.0488 . intronic . 0.0421 0.0454 0.0403 -2 +chr19 49675285 TRPM4 G A 1 . 3.605 . . . 0 nonsynonymous_SNV exonic T 0.0001 0 . 4 +chr19 49675297 TRPM4 T G 1 . 6.428 Gene:8184,MedGen:C1970298,OMIM:604559|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374 Progressive_familial_heart_block_type_1B|Long_QT_syndrome|not_specified Uncertain_significance 0.0004 nonsynonymous_SNV exonic D 0.0005 0.0003 6.687e-05 6 +chr19 49684586 TRPM4 T A 8 0.0145767 . MedGen:CN169374 not_specified Benign 0.0576 . intronic . 0.0581 0.0601 0.0640 -2 +chr19 49686146 TRPM4 G A 2 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 8 +chr19 49686189 TRPM4 G T 1 . . . . . . . intronic . . 0 . 4 +chr19 49692023 TRPM4 C T 1 . . . . . . synonymous_SNV exonic . . 8.957e-06 . 4 +chr19 49693461 TRPM4 A C 1 . . MedGen:CN169374 not_specified Likely_benign 0.0001 . intronic . 0.0001 8.959e-05 0 4 +chr19 49694029 TRPM4 G A 1 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 0 +chr19 49694101 TRPM4 G A 1 0.000199681 . . . . . . intronic . . . 0.0001 2 +chr19 49699866 TRPM4 C T 18 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 -2 +chr19 49700047 TRPM4 A G 1 0.000399361 0.237 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374 Progressive_familial_heart_block_type_1B|not_specified Likely_benign 0.0029 nonsynonymous_SNV exonic T 0.0012 0.0011 0.0007 0 +chr19 49703540 TRPM4 A T 1 0.00279553 . MedGen:CN169374 not_specified Benign 8.997e-05 . intronic . . 0.0002 6.67e-05 0 +chr19 49703651 TRPM4 A T 2 0.000399361 16.146 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN239424|MedGen:CN517202 Progressive_familial_heart_block_type_1B|not_specified|TRPM4-Related_Disorders|not_provided Conflicting_interpretations_of_pathogenicity 0.0022 stopgain exonic . 0.0019 0.0020 0.0017 8 +chr19 49703672 TRPM4 G A 1 0.000199681 2.229 . . . 0.0001 nonsynonymous_SNV exonic T 0.0001 0.0001 0.0001 2 +chr19 49703983 TRPM4 G T 1 . 6.457 . . . . nonsynonymous_SNV exonic D . 1.792e-05 . 10 +chr19 49704023 TRPM4 T C 1 0.0255591 . 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 0.0004 synonymous_SNV exonic . 0.0009 0.0005 0.0002 -2 +chr19 49705249 TRPM4 G A 1 0.0233626 . 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 0.0003 synonymous_SNV exonic . 0.0002 0.0004 0.0003 -2 +chr19 49705291 TRPM4 G A 1 0.023762 . 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 0.0004 synonymous_SNV exonic . 0.0010 0.0005 0.0003 -2 +chr19 49714497 TRPM4 C T 2 0.00159744 4.157 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0051 nonsynonymous_SNV exonic T 0.0033 0.0039 0.0042 0 +chr19 49714732 TRPM4 C G 1 0.0203674 . MedGen:CN169374 not_specified Benign 0.0039 . intronic . 0.0027 0.0037 0.0029 -2 +chr19 49714836 TRPM4 G T 1 . . MedGen:CN206278,Orphanet:ORPHA871 Progressive_familial_heart_block Uncertain_significance . . UTR3 . . . 0.0006 4 +chr19 55665410 TNNI3 C T 30 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 -2 +chr19 55665580 TNNI3 GGCAA GGCAC 2 . . . . . . . intronic\x3bintronic\x3bintronic\x3bintronic . . . . 4 +chr19 55665581 TNNI3 GCAA GCAC 4 . . . . . . . intronic\x3bintronic\x3bintronic\x3bintronic . . . . 8 +chr19 55665582 TNNI3 CAA CAC,AAA 4 . . . . . . . intronic . . . . 8 +chr19 55665583 TNNI3 AA AC,CA 4 . . . . . . . intronic . . . . 8 +chr19 55665584 TNNI3 AACGA CACGA 210 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 +chr19 55667647 TNNI3 C A 10 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 -2 +chr19 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 -6 +chr19 55668007 TNNI3 T A 1 . 4.826 MedGen:CN517202 not_provided Likely_pathogenic . unknown exonic D . . . 4 +chr19 55668060 TNNI3 A G 1 0.000199681 . . . . 0.0017 . intronic . 0.0011 0.0015 0.0010 0 +chr19 55668397 TNNI3 C T 30 0.0477236 . MedGen:CN169374 not_specified Benign 0.1201 . intronic . 0.0622 0.0708 0.0655 -2 +chr19 55668508 TNNI3 TA TT 4 . . . . . . . intronic . . . . 8 +chr19 55668509 TNNI3 A T 59 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 -6 +chr19 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 -6 +chr19 55669004 TNNI3 G A 3 0.00259585 . MedGen:CN169374 not_specified Likely_benign 0.0113 . UTR5 . 0.0094 0.0105 0.0086 -2 +chr2 39213258 SOS1 G T 1 . 3.587 MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Likely_benign 0 nonsynonymous_SNV exonic D . 0 . 7 +chr2 39241107 SOS1 G A 6 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 -2 +chr2 39250386 SOS1 A G 4 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 4 +chr2 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 +chr2 39281832 SOS1 A G 2 . 5.737 MedGen:CN169374 not_specified Likely_benign 1.502e-05 nonsynonymous_SNV exonic D . 4.479e-05 6.666e-05 10 +chr2 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 +chr2 39281922 SOS1 T C 1 0.000599042 -0.011 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 0.0003 nonsynonymous_SNV exonic T 0.0001 6.272e-05 . 0 +chr2 39347525 SOS1 T C 1 . . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Conflicting_interpretations_of_pathogenicity 1.825e-05 synonymous_SNV exonic . . 4.834e-05 6.684e-05 4 +chr2 47387949 CALM2 AAAGAAGAAGT AAAGAAGT 1 . . MedGen:C0035828,OMIM:192500,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome_1|not_specified Likely_benign 0.0002 . intronic . . 9.062e-05 0.0002 2 +chr2 47387986 CALM2 G T,A 1 . . . . . 0.0032 . intronic . . 0.0110 0 -2 +chr2 47387988 CALM2 CCAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC CCAAAAAAAAAAAAAAAAAAAAATCACATTTACTC,AAAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC,CAAAAAAAAAAAAAAAAAAAAATCACATTTACTC,CCAAAAAAAAAAAAAAAAAAAATCACATTTACTC 1 . . . . . 0.1532 . intronic . . . . -2 +chr2 47387989 CALM2 C A 2 . . . . . . . intronic . . . . 4 +chr2 47388844 CALM2 T C 1 0.0521166 . MedGen:CN169374 not_specified Benign 0.0074 . intronic . 0.0067 0.0069 0.0071 -2 +chr2 47403612 CALM2 G A 1 0.000199681 . . . . 0.0005 synonymous_SNV exonic . 0.0003 0.0002 0.0003 0 +chr2 47403626 CALM2 T G 4 . 2.126 . . . . nonsynonymous_SNV exonic T . 0 . 8 +chr2 105977761 FHL2 G A 56 0.111422 . MedGen:CN169374 not_specified Benign 0.1934 synonymous_SNV exonic . 0.1959 0.1935 0.1913 -2 +chr2 105977776 FHL2 G A 18 0.0517173 . MedGen:CN169374 not_specified Benign 0.1184 synonymous_SNV exonic . 0.1270 0.1223 0.1172 -2 +chr2 105977903 FHL2 G C 30 0.305511 . MedGen:CN169374 not_specified Benign 0.1310 . intronic . 0.1364 0.1332 0.1422 -2 +chr2 105979730 FHL2 C A 84 0.277356 . MedGen:CN169374 not_specified Benign 0.3779 . intronic . 0.3766 0.3798 0.3795 -2 +chr2 105979752 FHL2 G A 3 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 -10 +chr2 179392015 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 0.0018 synonymous_SNV exonic . 0.0018 0.0016 0.0017 -8 +chr2 179392260 TTN C T 1 . 3.508 MedGen:CN169374 not_specified Conflicting_interpretations_of_pathogenicity 1.499e-05 nonsynonymous_SNV exonic T 0.0001 3.587e-05 6.661e-05 4 +chr2 179392277 TTN A G 3 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 +chr2 179392987 na G A 2 . . 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 0.0003 . ncRNA_intronic . 0.0004 0.0003 0.0003 6 +chr2 179393111 TTN A G 4 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 -6 +chr2 179393691 TTN G A 2 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 +chr2 179393803 TTN C G 1 0.000399361 3.311 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D030342,MedGen:C0950123|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|Inborn_genetic_diseases|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 0.0005 nonsynonymous_SNV exonic T 0.0002 0.0005 0.0003 4 +chr2 179393840 TTN C T 1 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 4 +chr2 179393859 TTN A G 3 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 2 +chr2 179395067 TTN C G 19 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 -6 +chr2 179395415 TTN G T 1 . 1.480 . . . . nonsynonymous_SNV exonic T . . . 4 +chr2 179395554 TTN GC AA 4 . . 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 . nonframeshift_substitution exonic . . . . 4 +chr2 179395560 TTN G A 4 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 -6 +chr2 179395573 TTN C T 8 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 -10 +chr2 179395760 TTN G A 4 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 -6 +chr2 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 2 +chr2 179395958 TTN T C 50 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 -6 +chr2 179396114 TTN C T 1 0.00139776 . 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 0.0014 synonymous_SNV exonic . 0.0023 0.0008 0.0007 4 +chr2 179396162 TTN C G 8 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 -6 +chr2 179396354 TTN G A 34 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 -6 +chr2 179396573 TTN T G 2 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 -4 +chr2 179396766 TTN C T 6 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 -6 +chr2 179397077 TTN G A 1 . . . . . 1.499e-05 synonymous_SNV exonic . . 8.966e-06 . 4 +chr2 179397150 TTN T C 1 . 2.595 MedGen:CN169374 not_specified Uncertain_significance 0 nonsynonymous_SNV exonic T . 0 . 4 +chr2 179397483 TTN C T 1 . 4.411 MedGen:CN169374 not_specified Uncertain_significance 1.5e-05 nonsynonymous_SNV exonic T 0.0001 3.591e-05 0 4 +chr2 179397561 TTN C T 34 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 -6 +chr2 179398509 TTN C A 4 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 -6 +chr2 179398747 TTN T C 1 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 4 +chr2 179398823 TTN GCC GC,ACC 1 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 -6 +chr2 179399264 TTN A G 1 . . . . . 1.499e-05 synonymous_SNV exonic . . 2.7e-05 . 4 +chr2 179399315 TTN CAA CA 1 . . . . . . stopgain exonic . . . . 12 +chr2 179399451 TTN C T 1 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 4 +chr2 179399576 TTN C G 3 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 2 +chr2 179399936 TTN G C 1 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 4 +chr2 179399973 TTN A T 1 . 1.886 MedGen:CN169374 not_specified Uncertain_significance . nonsynonymous_SNV exonic T . 1.793e-05 . 4 +chr2 179400586 na A G 1 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 -6 +chr2 179400895 TTN C T 3 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 -6 +chr2 179401027 TTN C G 1 . 2.555 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: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 0.0004 nonsynonymous_SNV exonic T 0.0002 0.0004 0.0004 2 +chr2 179401042 TTN A C 1 . 2.613 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 0.0004 nonsynonymous_SNV exonic T 0.0002 0.0004 0.0004 2 +chr2 179401311 na CAAAAAAAAG CAAAAAAAAAG 4 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 8 +chr2 179401740 TTN C T 1 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 -6 +chr2 179401742 TTN C T 1 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 -6 +chr2 179401777 TTN A T 1 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 4 +chr2 179401870 TTN C A 1 . 3.357 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 Uncertain_significance 0 nonsynonymous_SNV exonic T . 3.604e-05 . 4 +chr2 179402072 TTN G A 1 . 32.086 . . . . stopgain exonic . . . . 12 +chr2 179403661 na T G 1 . . 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 0.0002 . ncRNA_exonic . . 0.0002 6.66e-05 6 +chr2 179403750 TTN C T 9 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 -6 +chr2 179403946 TTN C T 2 . 1.980 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 0.0013 nonsynonymous_SNV exonic T 0.0004 0.0011 0.0003 4 +chr2 179404192 TTN T A 1 . 3.122 . . . . nonsynonymous_SNV exonic T . . . 4 +chr2 179404197 TTN T C 1 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 2 +chr2 179404268 TTN C T 1 . 4.138 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_provided Uncertain_significance 2.997e-05 nonsynonymous_SNV exonic T . 2.696e-05 0 4 +chr2 179404293 TTN G A 1 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 4 +chr2 179404402 TTN T C 2 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 -4 +chr2 179404550 TTN G A 4 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 8 +chr2 179404628 TTN T A 3 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 -6 +chr2 179404786 na A T 34 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 -6 +chr2 179406003 na C A 50 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 -6 +chr2 179406044 TTN C T 4 0.00159744 5.197 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D030342,MedGen:C0950123|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|Inborn_genetic_diseases|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 0.0056 nonsynonymous_SNV exonic T 0.0038 0.0029 0.0033 11 +chr2 179406191 TTN C T 34 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 +chr2 179407097 TTN G A 1 . . 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 0.0006 synonymous_SNV exonic . 0.0006 0.0007 0.0007 4 +chr2 179407482 TTN G A 1 . 4.515 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 0.0002 nonsynonymous_SNV exonic D 0.0002 0.0002 0.0003 9 +chr2 179407561 TTN C G 1 . 3.495 . . . . nonsynonymous_SNV exonic D . . . 7 +chr2 179408713 TTN A G 9 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 -6 +chr2 179408912 na C T 1 . . . . . 1.508e-05 . ncRNA_intronic . . 2.723e-05 . 4 +chr2 179410282 TTN A G 2 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 2 +chr2 179410666 TTN G A 1 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 4 +chr2 179410815 TTN G A 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 0.0017 synonymous_SNV exonic . 0.0019 0.0016 0.0017 -8 +chr2 179411011 TTN T C 1 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 -6 +chr2 179411195 TTN G A 1 . . 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 0.0007 synonymous_SNV exonic . 0.0005 0.0007 0.0006 4 +chr2 179411207 TTN A T 2 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 4 +chr2 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 4 +chr2 179411526 TTN T C 1 . 1.237 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 Uncertain_significance 1.504e-05 nonsynonymous_SNV exonic T . 1.81e-05 . 4 +chr2 179412772 TTN T C 1 0.000199681 1.276 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 1.5e-05 nonsynonymous_SNV exonic T . 2.694e-05 0 2 +chr2 179412966 TTN G A 8 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 -6 +chr2 179413110 TTN G A 34 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 -6 +chr2 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 2 +chr2 179413588 TTN G A 1 . 3.064 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 4.499e-05 nonsynonymous_SNV exonic T . 2.695e-05 . 8 +chr2 179414318 TTN C T 9 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 -6 +chr2 179414705 na A T 1 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 -6 +chr2 179414800 TTN C T 1 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 4 +chr2 179414964 TTN T A 1 0.000399361 1.999 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 0.0013 nonsynonymous_SNV exonic D 0.0011 0.0011 0.0017 7 +chr2 179415013 na G A 1 0.00599042 . MedGen:CN169374 not_specified Benign 0.0017 . ncRNA_intronic . 0.0015 0.0016 0.0017 0 +chr2 179416556 TTN A C 9 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 -6 +chr2 179416801 TTN A C 1 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 4 +chr2 179416846 TTN TGT TT 1 . . . . . . stopgain exonic . . . . 12 +chr2 179417091 TTN C T 1 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 4 +chr2 179417633 TTN C T 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 0.0018 synonymous_SNV exonic . 0.0019 0.0016 0.0017 -8 +chr2 179417756 TTN AGG AGGG 1 . . . . . . frameshift_insertion exonic . . . . 4 +chr2 179418418 TTN C T 1 0.000199681 2.754 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 Uncertain_significance 0.0004 nonsynonymous_SNV exonic T 0.0008 0.0004 0.0002 0 +chr2 179418820 TTN C T 1 . 4.793 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 0.0002 nonsynonymous_SNV exonic T 0.0004 0.0002 6.664e-05 2 +chr2 179419748 TTN CTT CT 1 . . . . . . frameshift_deletion exonic . . . . 4 +chr2 179419792 TTN G A 2 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 4 +chr2 179421609 TTN C T 9 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 -6 +chr2 179421694 TTN A G 50 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 -6 +chr2 179422181 TTN C T 2 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 4 +chr2 179423099 TTN A G 1 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 -6 +chr2 179423177 TTN G A 1 . . . . . 1.502e-05 synonymous_SNV exonic . . 9.013e-06 . 4 +chr2 179424048 TTN T C 11 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 -6 +chr2 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 -6 +chr2 179424600 TTN T C 1 . . 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:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Uncertain_significance . synonymous_SNV exonic . . . . 4 +chr2 179425397 TTN C T 1 . 3.216 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 6.028e-05 nonsynonymous_SNV exonic T 0.0001 8.121e-05 0 4 +chr2 179426046 TTN A G 1 . . . . . 1.499e-05 synonymous_SNV exonic . . 9.001e-06 6.663e-05 4 +chr2 179427186 TTN A G 50 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 -6 +chr2 179427536 TTN T C 50 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 -6 +chr2 179428119 TTN C T 2 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 4 +chr2 179428299 TTN G T 1 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 4 +chr2 179429004 TTN G A 1 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 -6 +chr2 179429301 TTN A G 2 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 -4 +chr2 179430060 TTN G T 1 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 -6 +chr2 179430460 TTN A G 1 . 0.970 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 1.499e-05 nonsynonymous_SNV exonic T . 2.709e-05 . 4 +chr2 179430997 TTN G A 38 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 -6 +chr2 179431076 TTN C G 7 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 -7 +chr2 179431594 TTN A G 1 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 -6 +chr2 179431797 TTN A T 4 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 -6 +chr2 179432185 TTN A G 58 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 -6 +chr2 179432627 TTN T C 1 . 2.073 . . . . nonsynonymous_SNV exonic T . . . 4 +chr2 179433221 TTN T C 1 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 -6 +chr2 179433580 TTN T C 1 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 -6 +chr2 179433643 TTN G C 1 0.000199681 2.178 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 0.0011 nonsynonymous_SNV exonic T 0.0017 0.0010 0.0011 4 +chr2 179434137 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 0.0038 synonymous_SNV exonic . 0.0036 0.0040 0.0027 4 +chr2 179434139 TTN A G 1 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 -6 +chr2 179434234 TTN ACT AT 2 . . . . . . frameshift_deletion exonic . . . . 4 +chr2 179434516 TTN C T 4 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 -6 +chr2 179434571 TTN T C 1 . 0.853 . . . 0 nonsynonymous_SNV exonic T . 0 0 4 +chr2 179435332 TTN C T 1 0.000199681 3.593 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 Uncertain_significance 0.0001 nonsynonymous_SNV exonic T 0.0001 0.0001 0.0001 2 +chr2 179435337 TTN T G 9 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 -6 +chr2 179435418 TTN T C 3 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 0 +chr2 179436020 TTN G A 34 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 -6 +chr2 179436323 TTN C T 1 . 2.702 . . . 0 nonsynonymous_SNV exonic T . 0 . 4 +chr2 179436343 TTN C T 1 . 2.617 . . . 0 nonsynonymous_SNV exonic T . 0 . 4 +chr2 179436554 TTN T C 1 . 2.959 MedGen:C1834481,OMIM:613426|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Dilated_cardiomyopathy_1S|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0001 . 2 +chr2 179437491 TTN A G 2 . . MedGen:CN230736 Cardiovascular_phenotype Likely_benign 1.499e-05 synonymous_SNV exonic . 0.0001 1.804e-05 . 4 +chr2 179437523 TTN G A 2 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 0.0010 synonymous_SNV exonic . 0.0007 0.0010 0.0009 -4 +chr2 179438093 TTN T C 2 . 1.427 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: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 0.0012 nonsynonymous_SNV exonic T 0.0004 0.0010 0.0003 4 +chr2 179438235 TTN T C 1 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 4 +chr2 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 -6 +chr2 179439877 TTN G A 1 . 2.456 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance . nonsynonymous_SNV exonic D . 9.09e-06 . 7 +chr2 179440029 TTN G A 53 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 -6 +chr2 179440163 TTN C G 2 0.00439297 2.942 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 0.0126 nonsynonymous_SNV exonic T 0.0161 0.0124 0.0160 -6 +chr2 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 -4 +chr2 179440208 TTN G A 1 . . 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 0.0003 0.0001 6 +chr2 179440629 TTN G T 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr2 179440876 TTN G A 1 . 4.578 . . . . nonsynonymous_SNV exonic T . 3.606e-05 . 4 +chr2 179441038 TTN C T 2 0.000199681 1.904 MeSH:D030342,MedGen:C0950123|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Inborn_genetic_diseases|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0023 0.0021 0.0022 4 +chr2 179441148 na G C 2 0.00179712 . 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 0.0041 . ncRNA_intronic . 0.0031 0.0040 0.0032 -4 +chr2 179441295 TTN T C 4 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 -1 +chr2 179441386 TTN G A 5 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 0.0162 synonymous_SNV exonic . 0.0130 0.0157 0.0214 -6 +chr2 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 7 +chr2 179441947 TTN C T 1 . 3.130 . . . . nonsynonymous_SNV exonic D . . . 7 +chr2 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 7 +chr2 179443540 TTN A G 9 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 -6 +chr2 179443834 TTN A G 1 . . . . . 4.502e-05 synonymous_SNV exonic . . 3.606e-05 . 4 +chr2 179443948 TTN C T 1 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 0.0001 synonymous_SNV exonic . . 0.0001 0.0002 -4 +chr2 179444137 na A G 43 0.347444 . MedGen:CN169374 not_specified Benign 0.1730 . ncRNA_intronic . 0.1688 0.1675 0.1758 -2 +chr2 179444289 TTN A G 2 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 -6 +chr2 179444437 TTN T C 1 . 1.218 MedGen:CN169374 not_specified Uncertain_significance 1.5e-05 nonsynonymous_SNV exonic T . 3.612e-05 . 4 +chr2 179444768 TTN C G 230 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 -6 +chr2 179444939 TTN C T 44 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 -6 +chr2 179446381 TTN C T 1 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 2 +chr2 179447110 TTN CAT CAAT 1 . . . . . . stopgain exonic . . . . 12 +chr2 179447132 TTN C T 1 . . 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 0.0001 synonymous_SNV exonic . . 0.0001 . 8 +chr2 179447755 TTN G A 4 0.00159744 . 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 0.0020 synonymous_SNV exonic . 0.0017 0.0017 0.0006 8 +chr2 179447848 TTN T C 55 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 -6 +chr2 179448315 na A C 2 0.0391374 . MedGen:CN169374 not_specified Benign 0.0375 . ncRNA_exonic . 0.0227 0.0248 0.0255 -2 +chr2 179448395 TTN G A 1 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Likely_benign 1.602e-05 synonymous_SNV exonic . . 2.711e-05 . 0 +chr2 179449186 TTN G A 1 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 -6 +chr2 179449579 TTN C T 1 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 7 +chr2 179451420 TTN G A 52 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 -6 +chr2 179451906 TTN G A 4 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 -6 +chr2 179453429 TTN G A 1 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 2 +chr2 179453458 TTN G A 1 . . 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 0.0004 synonymous_SNV exonic . 0.0006 0.0003 0.0002 4 +chr2 179453636 TTN C T 1 . 4.103 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance 4.587e-05 nonsynonymous_SNV exonic T . 2.707e-05 6.667e-05 4 +chr2 179453929 TTN T C 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr2 179454342 TTN G C 1 . 1.810 MedGen:CN169374 not_specified Uncertain_significance . nonsynonymous_SNV exonic T . . . 4 +chr2 179454394 TTN A G 54 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 -6 +chr2 179454770 TTN G C 1 . 22.101 MedGen:C1834481,OMIM:613426 Dilated_cardiomyopathy_1S Likely_pathogenic . stopgain exonic . . . . 16 +chr2 179455207 TTN T C 54 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 -6 +chr2 179455631 TTN G A 1 0.00299521 2.221 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 0.0022 nonsynonymous_SNV exonic D 0.0012 0.0014 0.0007 7 +chr2 179456603 TTN G T 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 0.0011 synonymous_SNV exonic . 0.0007 0.0005 0.0003 4 +chr2 179457147 TTN G A 37 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 -6 +chr2 179458591 TTN C T 38 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 -6 +chr2 179458921 TTN A C 1 . 2.717 . . . 1.502e-05 nonsynonymous_SNV exonic T . 9.022e-06 . 4 +chr2 179459335 TTN C G 1 . 2.363 . . . . nonsynonymous_SNV exonic T . . . 4 +chr2 179460214 na ATTTTTTTTTTTTTA ATTTTTTTTTTTTTTA,ATTTTTTTTTTTTA 1 . . MedGen:CN169374 not_specified Benign 0.3517 . ncRNA_intronic . 0.1521 0.3846 0.0112 -2 +chr2 179460400 TTN GTCAGATTCACGCTTTT GT 1 . . . . . . nonframeshift_deletion exonic . . . . 4 +chr2 179460433 TTN G A 1 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 4 +chr2 179462494 TTN A G 56 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 -6 +chr2 179464373 TTN G A 1 . 3.044 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 Uncertain_significance 0.0003 nonsynonymous_SNV exonic T 0.0007 0.0003 0.0001 0 +chr2 179464527 TTN T C 54 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 -6 +chr2 179466017 TTN C T 1 . . . . . 1.555e-05 synonymous_SNV exonic . . 9.731e-06 . 4 +chr2 179466171 TTN T C 1 0.00259585 1.823 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 0.0014 nonsynonymous_SNV exonic T 0.0013 0.0005 0.0005 4 +chr2 179466679 na C T 2 0.00239617 . . . . 0.0042 . ncRNA_intronic . 0.0051 0.0046 0.0049 0 +chr2 179468674 TTN A G 1 . 1.807 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 0.0002 nonsynonymous_SNV exonic T . 0.0002 0 6 +chr2 179468762 TTN G A 1 . 20.022 . . . 1.499e-05 stopgain exonic . . 9.003e-06 . 12 +chr2 179471759 TTN A G 1 . 1.729 . . . . nonsynonymous_SNV exonic T . . 6.67e-05 4 +chr2 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 -3 +chr2 179472292 TTN T A 1 0.0295527 1.552 . . . 0.0254 nonsynonymous_SNV exonic T 0.0204 0.0234 0.0228 -2 +chr2 179472374 TTN C A 1 . 22.395 . . . . stopgain exonic . . . . 12 +chr2 179472693 TTN A G 1 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 -6 +chr2 179472825 na T C 8 0.0107827 . MedGen:CN169374 not_specified Benign 0.0247 . ncRNA_intronic . 0.0226 0.0225 0.0215 -2 +chr2 179472908 TTN T C 1 . 0.954 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 Uncertain_significance 0.0003 nonsynonymous_SNV exonic T 0.0001 0.0002 0.0003 2 +chr2 179474401 na CAA CA 1 . . . . . . . ncRNA_intronic . . . . 4 +chr2 179474466 TTN C T 1 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 -6 +chr2 179474668 TTN G A 4 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 -6 +chr2 179476242 TTN C T 1 0.000399361 4.034 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 0.0005 nonsynonymous_SNV exonic T 0.0006 0.0003 0.0019 4 +chr2 179476246 TTN A G 1 . 2.398 . . . . nonsynonymous_SNV exonic T . . . 4 +chr2 179477267 TTN T G 9 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 -6 +chr2 179477529 TTN C G 1 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 4 +chr2 179477717 TTN A G 4 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 -6 +chr2 179478639 TTN T A 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 0.0018 synonymous_SNV exonic . 0.0019 0.0017 0.0017 -8 +chr2 179478953 TTN G A 1 0.000199681 19.352 . . . . stopgain exonic . . . . 10 +chr2 179478957 TTN C T 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr2 179479245 TTN C T 4 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 -6 +chr2 179479607 TTN G A 2 0.00159744 2.410 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 0.0070 nonsynonymous_SNV exonic T 0.0033 0.0037 0.0095 4 +chr2 179479698 na G C 1 . . . . . . . ncRNA_intronic . . . . 4 +chr2 179482089 TTN C T 4 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 2 +chr2 179482533 TTN G T 1 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 4 +chr2 179482763 TTN C T 1 0.00139776 2.469 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 0.0047 nonsynonymous_SNV exonic T 0.0048 0.0030 0.0027 4 +chr2 179484371 TTN GCTTCTTT GCTTT 1 . . MedGen:CN169374 not_specified Uncertain_significance . nonframeshift_deletion exonic . . . . 4 +chr2 179484735 TTN C T 1 . 3.957 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Uncertain_significance 0 nonsynonymous_SNV exonic D . 9.142e-06 . 7 +chr2 179484758 TTN G A 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 Benign/Likely_benign 4.528e-05 synonymous_SNV exonic . 0.0002 2.73e-05 0.0001 -2 +chr2 179485599 TTN A G 2 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 -6 +chr2 179485682 TTN C A 1 . 3.186 . . . . nonsynonymous_SNV exonic T . . . 4 +chr2 179485846 TTN G C 1 . 2.918 . . . 0.0007 nonsynonymous_SNV exonic T 0.0010 0.0002 0.0001 0 +chr2 179486223 TTN C T 2 0.00299521 3.654 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: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 0.0079 nonsynonymous_SNV exonic T 0.0096 0.0072 0.0087 -4 +chr2 179486345 TTN T A 1 0.0169728 3.242 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 0.0015 nonsynonymous_SNV exonic T 0.0013 0.0007 0.0007 -6 +chr2 179486376 TTN C T 1 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 -4 +chr2 179497025 TTN A G 1 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 -6 +chr2 179497133 TTN C T 7 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 -6 +chr2 179498042 TTN T C 36 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 -6 +chr2 179498236 TTN G A 1 . 3.777 . . . 3.006e-05 nonsynonymous_SNV exonic T . 9.008e-06 . 4 +chr2 179498247 TTN T C 1 . 1.656 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_provided Uncertain_significance 0.0001 nonsynonymous_SNV exonic T 0.0002 9.908e-05 6.666e-05 2 +chr2 179498303 TTN T C 6 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 -6 +chr2 179499179 TTN A G 1 0.000399361 3.193 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 0.0005 nonsynonymous_SNV exonic T 0.0007 0.0004 0.0003 4 +chr2 179499530 TTN T C 1 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 -6 +chr2 179500790 TTN A G 2 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 -6 +chr2 179501351 TTN G A 1 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 4 +chr2 179504546 MIR548N T C 2 0.000199681 . . . . 0.0005 . ncRNA_intronic . 0.0009 0.0005 0.0004 0 +chr2 179505367 MIR548N AAGATTA AA 2 . . . . . . . ncRNA_intronic . . . . 4 +chr2 179511767 MIR548N GTATATATATATATATATATATAC GTATATATATATATATATATAC 12 . . MedGen:CN169374 not_specified Benign 0.4121 . ncRNA_intronic . . 0.4119 0.0410 -2 +chr2 179514420 MIR548N G A 1 0.0305511 . . . . . . ncRNA_intronic . . . 0.0229 -2 +chr2 179514941 TTN TTTTCCTCTTCAGGAGCAAT TT 1 . . . . . . nonframeshift_deletion exonic . . . . 4 +chr2 179515437 MIR548N T G 1 0.0307508 . . . . 0.0321 . ncRNA_intronic . 0.0198 0.0220 0.0230 -2 +chr2 179515472 MIR548N G A 3 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 -10 +chr2 179515483 TTN G C 1 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 -6 +chr2 179515576 MIR548N A G 1 . . . . . . . ncRNA_intronic . . . . 4 +chr2 179516147 MIR548N C T 1 . . . . . 0.0005 . ncRNA_intronic . 0.0001 0.0006 0.0004 0 +chr2 179516580 MIR548N G C 4 0.00838658 . . . . 0.0298 . ncRNA_intronic . 0.0231 0.0211 0.0218 -2 +chr2 179516583 MIR548N G T 1 . . . . . 0.0006 . ncRNA_intronic . 0.0010 0.0006 0.0003 0 +chr2 179516680 TTN C G 1 . 2.264 . . . . nonsynonymous_SNV exonic T . . . 4 +chr2 179516712 MIR548N C A 1 . . MedGen:CN169374 not_specified Likely_benign 1.787e-05 . ncRNA_intronic . . 0 . 4 +chr2 179517159 MIR548N T A 1 0.00219649 . . . . 0.0012 . ncRNA_intronic . 0.0013 0.0013 0.0007 0 +chr2 179517213 TTN A G 1 . . 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 6.057e-05 synonymous_SNV exonic . . 3.597e-05 . 8 +chr2 179517223 TTN G A 1 . 0.259 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance 0 nonsynonymous_SNV exonic T . 0 . 4 +chr2 179517605 TTN G A 3 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 -4 +chr2 179517654 TTN T C 2 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 -10 +chr2 179518003 TTN A G 9 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 -10 +chr2 179518077 MIR548N A G 2 . . . . . 0.0243 . ncRNA_intronic . . 0.0177 0.0184 -2 +chr2 179518889 MIR548N G A 1 0.000199681 . . . . 0.0002 . ncRNA_intronic . . 0.0002 . 2 +chr2 179518911 MIR548N TAGCA TA 25 . . . . . . . ncRNA_intronic . . . . 12 +chr2 179518940 TTN G A 1 . -0.958 . . . 1.617e-05 nonsynonymous_SNV exonic . . 9.411e-06 . 4 +chr2 179522337 MIR548N G A 2 0.136581 . . . . 0.0010 . ncRNA_intronic . . 0.0048 0.0086 -2 +chr2 179523753 TTN G A 2 . 1.355 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 . nonsynonymous_SNV exonic T . 0.0011 0.0027 4 +chr2 179526573 MIR548N A G 2 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0269 . ncRNA_intronic . 0.0080 0.0191 0.0187 -10 +chr2 179527095 TTN G A 8 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 -10 +chr2 179527122 TTN T C 6 . -0.802 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance . nonsynonymous_SNV exonic . . 0 0.0001 12 +chr2 179528038 TTN A C 12 . -1.764 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 0.0084 nonsynonymous_SNV exonic T . 0.0449 0.1261 2 +chr2 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 exonic T 0.0045 0.0042 0.0047 -10 +chr2 179528335 MIR548N T C 6 0.0698882 . . . . 0.0245 . ncRNA_intronic . 0.0221 0.0237 0.0226 -2 +chr2 179528378 TTN C T 12 0.259185 2.900 MedGen:CN169374 not_specified Benign 0.0632 nonsynonymous_SNV exonic T 0.0560 0.0595 0.0572 -2 +chr2 179528759 TTN T C 1 0.000199681 0.496 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 0.0034 nonsynonymous_SNV exonic T 0.0040 0.0038 0.0025 -4 +chr2 179528788 TTN T C 1 0.0183706 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0016 synonymous_SNV exonic . 0.0013 0.0007 0.0007 -10 +chr2 179529158 MIR548N C T 1 0.00119808 . . . . 0.0057 . ncRNA_intronic . 0.0075 0.0071 0.0062 0 +chr2 179529273 MIR548N A G 2 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 -10 +chr2 179529497 MIR548N T G 2 0.0369409 . . . . 0.0277 . ncRNA_intronic . 0.0216 0.0252 0.0247 -2 +chr2 179530395 MIR548N C T 2 0.00199681 . . . . 0.0044 . ncRNA_intronic . . 0.0017 0.0023 0 +chr2 179531543 MIR548N A C 2 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0015 . ncRNA_intronic . 0.0003 0.0007 0.0003 -8 +chr2 179531693 MIR548N A G 1 0.0309505 . . . . . . ncRNA_intronic . . . 0.0231 -2 +chr2 179534225 MIR548N G A 5 0.00838658 . . . . . . ncRNA_intronic . . . 0.0220 8 +chr2 179538411 TTN G A 1 . 2.879 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance 0 nonsynonymous_SNV exonic T . 0 0 4 +chr2 179538492 MIR548N C T 1 0.000798722 . . . . . . ncRNA_intronic . 0.0016 . 0.0054 0 +chr2 179539812 TTN T G 1 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 4 +chr2 179539903 MIR548N C A 51 0.471246 . . . . . . ncRNA_intronic . 0.2126 . 0.2194 -2 +chr2 179541899 TTN C G 164 0.773363 . . . . 0.7155 . intronic . . 0.7180 0.7498 -2 +chr2 179542060 TTN GTCATATATATATATATATATATATATATG GTCATATATATATATATATATATATATATATG,TTCATATATATATATATATATATATATATG 164 . . . . . . . intronic . . . . 12 +chr2 179543195 TTN C T 2 . 4.063 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 0.0009 nonsynonymous_SNV exonic D 0.0001 0.0005 0.0001 7 +chr2 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 -6 +chr2 179544055 TTN T C 1 0.00359425 . MedGen:CN169374 not_specified Benign 0.0015 . intronic . 0.0013 0.0006 0.0006 0 +chr2 179544427 TTN A G 1 0.00599042 . MedGen:CN169374 not_specified Benign 0.0020 . intronic . 0.0017 0.0017 0.0017 0 +chr2 179544448 TTN G A 1 . . . . . . . intronic . . 1.113e-05 . 4 +chr2 179544685 TTN CTCTTCTTCTTCTTCTA CTCTTCTTCTTCTTCTTCTA,CTCTTCTTCTTCTA 1 . . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0002 nonframeshift_deletion exonic . 0.0019 0.0002 0.0001 0 +chr2 179544962 TTN A C 2 . . . . . . . intronic . . . . 4 +chr2 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 -4 +chr2 179545859 TTN C T 55 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 -6 +chr2 179547455 TTN T C 2 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 -4 +chr2 179548694 TTN GATTTTTTTTTTTTTTTTAAGAG GATTTTTTTTTTTTTTTAAGAG,GATTTTTTTTCTTTTTTTAAGAG,TTTTTTTTTTTTTTTTTTAAGAG,TATTTTTTTTTTTTTTTTAAGAG,GATTTTTTTTTTTTTTAAGAG 2 . . . . . 0.0141 . intronic . . 0.0177 0.0006 -2 +chr2 179548695 TTN ATTTTTTTTTTTTTTTTA ATTTTTTTTTTTTTTTA 19 . . . . . 0.4608 . intronic\x3bintronic . . 0.4476 0.1442 -2 +chr2 179548704 TTN T C 1 0.000798722 . . . . 0.0031 . intronic\x3bintronic . 0.0022 0.0031 0.0030 0 +chr2 179549407 TTN G A 1 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 4 +chr2 179549500 TTN A G 1 0.00599042 . . . . 0.0018 . intronic . 0.0020 0.0017 0.0018 0 +chr2 179549608 TTN GAG GAAG 1 0.00599042 . . . . 0.0023 . intronic . 0.0022 0.0016 0.0017 0 +chr2 179550069 TTN T C 3 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 -6 +chr2 179550287 TTN G C 1 0.00359425 1.478 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 nonsynonymous_SNV exonic T 0.0013 0.0006 0.0006 4 +chr2 179553393 TTN C T 1 . . MedGen:CN169374 not_specified Benign/Likely_benign 0.0008 . intronic . 0.0010 0.0002 0.0002 0 +chr2 179554002 TTN A C 1 . . 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:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Uncertain_significance . . intronic . . . . 4 +chr2 179554305 TTN C T 66 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 -6 +chr2 179554339 TTN T C 2 0.00139776 . MedGen:CN169374 not_specified Benign 0.0050 . intronic . 0.0056 0.0049 0.0031 0 +chr2 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 4 +chr2 179554624 TTN C T 1 . 5.453 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 Primary_dilated_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Conflicting_interpretations_of_pathogenicity 0.0005 . splicing . 0.0006 0.0007 0.0006 12 +chr2 179558366 TTN T C 53 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 -6 +chr2 179559353 TTN C T 1 0.000399361 2.938 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 0.0049 nonsynonymous_SNV exonic T 0.0028 0.0034 0.0025 -4 +chr2 179563637 TTN G T 1 . . MedGen:CN169374 not_specified Uncertain_significance . synonymous_SNV exonic . . 2.198e-05 . 4 +chr2 179563643 TTN TAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAATATTTCTG AAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAATATTTCTG,TAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAATATTTCTG 1 . . 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:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Uncertain_significance 0.3114 . intronic . . 0.3336 0.0173 -2 +chr2 179563659 TTN G A 1 . . MedGen:CN169374 not_specified Benign 0.0097 . intronic . . 0.0687 0.0062 -2 +chr2 179563669 TTN G A 1 . . . . . 0.0029 . intronic . . 0.0043 0.0026 0 +chr2 179563702 TTN CTTTC TTTTC,ATTTC,ATTTA 1 . . . . . . . intronic . . . . 4 +chr2 179566802 TTN TAAAAAAAAAATGATAT TAAAAAAAAAAATGATAT,TAAAAAAAAATGATAT 1 . . . . . 0.0190 . intronic . 0.0081 0.0033 0.0003 -2 +chr2 179567225 TTN C T 1 . 4.387 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 Uncertain_significance 0.0004 nonsynonymous_SNV exonic T 0.0002 0.0004 0.0004 2 +chr2 179567230 TTN A G 1 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 4 +chr2 179567340 TTN G A 4 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 +chr2 179567398 TTN A C 1 0.00339457 . 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 0.0023 . intronic . 0.0012 0.0014 0.0009 4 +chr2 179569387 TTN T A 9 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 -6 +chr2 179569400 TTN C T 2 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 -6 +chr2 179569436 TTN A G 2 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 -6 +chr2 179569583 TTN T A 1 0.00599042 . . . . 0.0017 . intronic . 0.0018 0.0017 0.0017 0 +chr2 179569705 TTN A G 1 0.00599042 . MedGen:CN169374 not_specified Benign 0.0017 . intronic . 0.0018 0.0016 0.0017 0 +chr2 179571423 TTN G T 2 0.0101837 . 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 0.0033 synonymous_SNV exonic . 0.0026 0.0031 0.0032 -6 +chr2 179571448 TTN A G 8 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 -6 +chr2 179571697 TTN C T 7 0.0942492 . MedGen:CN169374 not_specified Benign 0.0370 . intronic . 0.0239 0.0261 0.025 -2 +chr2 179571714 TTN A G 1 . . . . . 0 . intronic . . 0 6.663e-05 4 +chr2 179574384 TTN C T 2 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 -6 +chr2 179575357 TTN G C 1 . . . . . . . intronic . . . . 4 +chr2 179575511 TTN C T 14 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 -6 +chr2 179575832 TTN G A 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 0.0005 synonymous_SNV exonic . 0.0006 0.0005 0.0003 4 +chr2 179578012 TTN T C 1 0.000199681 1.181 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|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|Primary_familial_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 0.0007 nonsynonymous_SNV exonic T 0.0005 0.0004 0.0004 4 +chr2 179578108 TTN TACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAAT TACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAAT 27 0.355431 . 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 0.1171 . intronic . 0.0056 0.1243 0.1734 -6 +chr2 179578703 TTN C T 2 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 4 +chr2 179578704 TTN G A 7 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 -6 +chr2 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 -6 +chr2 179578891 TTN T C 1 0.000199681 1.831 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 0.0011 nonsynonymous_SNV exonic T 0.0010 0.0012 0.0012 4 +chr2 179579093 TTN T C 41 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 +chr2 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 -6 +chr2 179579694 TTN T A 2 0.0754792 . MedGen:CN169374 not_specified Benign 0.0293 . intronic . 0.0237 0.0260 0.0258 -2 +chr2 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 -6 +chr2 179579977 TTN G A 9 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 2 +chr2 179580210 TTN G A 7 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 -6 +chr2 179580434 TTN A G 1 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 -6 +chr2 179580481 TTN T C 1 . 2.960 MedGen:CN169374 not_specified Uncertain_significance 0.0006 nonsynonymous_SNV exonic T 0.0006 0.0002 0.0003 0 +chr2 179581835 TTN C A 1 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 -6 +chr2 179581971 TTN C T 1 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 4 +chr2 179582063 TTN A T 1 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 -6 +chr2 179582327 TTN C T 41 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 +chr2 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 +chr2 179582781 TTN C T 1 0.000199681 -0.035 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 0.0013 nonsynonymous_SNV exonic T 0.0008 0.0011 0.0009 4 +chr2 179582824 TTN C T 4 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 -6 +chr2 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 -6 +chr2 179583317 TTN G A 35 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 -6 +chr2 179583496 TTN T G 41 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 -6 +chr2 179583967 TTN G A 1 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 4 +chr2 179584831 TTN G C 1 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 4 +chr2 179584914 TTN C G 1 . 1.662 MedGen:CN169374 not_specified Uncertain_significance 0.0004 nonsynonymous_SNV exonic T 0.0011 0.0003 0.0005 0 +chr2 179585257 TTN G C 1 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 -4 +chr2 179585266 TTN C T 230 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 -6 +chr2 179585312 TTN G A 2 0.00199681 3.099 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 0.0080 nonsynonymous_SNV exonic T 0.0092 0.0072 0.0087 -4 +chr2 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 -6 +chr2 179586604 TTN C G 15 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 -6 +chr2 179587014 TTN T A 1 . . . . . 1.561e-05 synonymous_SNV exonic . . 0 . 4 +chr2 179587130 TTN C G 41 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 +chr2 179587546 TTN A G 7 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 -6 +chr2 179588045 TTN G A 1 . 2.479 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 4.54e-05 nonsynonymous_SNV exonic T . 3.655e-05 . 8 +chr2 179588578 TTN C T 1 . . . . . . . intronic . . . . 4 +chr2 179588813 TTN C T 1 0.00379393 2.969 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 nonsynonymous_SNV exonic D 0.0011 0.0005 0.0003 -1 +chr2 179589058 TTN G A 1 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 -6 +chr2 179589241 TTN G A 6 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 -6 +chr2 179590329 TTN C T 2 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 -7 +chr2 179590708 TTN C T 1 0.000199681 3.367 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 0.0015 0.0017 0.0016 4 +chr2 179590740 TTN A G 1 . 1.964 . . . . nonsynonymous_SNV exonic T . . . 4 +chr2 179591917 TTN T C 1 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 4 +chr2 179593352 TTN C T 8 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 -6 +chr2 179593503 TTN G T 1 0.00159744 0.886 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 0.0032 nonsynonymous_SNV exonic T 0.0022 0.0029 0.0032 -4 +chr2 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 -6 +chr2 179594059 TTN T C 1 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 4 +chr2 179594107 TTN G C 1 0.000599042 0.841 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 0.0048 nonsynonymous_SNV exonic T 0.0050 0.0030 0.0027 4 +chr2 179595064 TTN T A 1 . 1.402 . . . 1.662e-05 nonsynonymous_SNV exonic T . 9.31e-06 . 4 +chr2 179595117 TTN C G 45 0.348043 . MedGen:CN169374 not_specified Benign 0.1836 . intronic . 0.1789 0.1770 0.1788 -2 +chr2 179595808 TTN C T 1 . 3.202 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.969e-06 . 4 +chr2 179596554 TTN T C 2 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 4 +chr2 179597590 TTN T C 1 0.000199681 1.652 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 0.0010 0.0012 0.0008 4 +chr2 179597600 TTN C T 4 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 +chr2 179597998 TTN C T 1 . 1.999 . . . . nonsynonymous_SNV exonic T . . . 4 +chr2 179598139 TTN C A 1 . 3.544 . . . . nonsynonymous_SNV exonic D . . . 7 +chr2 179598228 TTN A G 21 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 -6 +chr2 179599473 TTN C G 3 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 +chr2 179599667 TTN G C 4 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 -6 +chr2 179600303 TTN G C 2 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 4 +chr2 179600475 TTN C T 2 0.00179712 2.746 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 0.0044 nonsynonymous_SNV exonic T 0.0033 0.0040 0.0096 -4 +chr2 179600563 TTN G A 230 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 -6 +chr2 179600648 TTN C T 3 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 -6 +chr2 179602948 TTN G T 2 0.000199681 2.639 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 Uncertain_significance 0.0005 nonsynonymous_SNV exonic T 0.0009 0.0005 0.0004 0 +chr2 179603847 TTN ATT AT 1 . . . . . . . intronic . . . . 4 +chr2 179604101 TTN C T 1 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 -4 +chr2 179604160 TTN T G 2 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 -2 +chr2 179604366 TTN T G 2 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 -2 +chr2 179604742 TTN G A 2 0.0766773 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 synonymous_SNV exonic . 0.0433 0.0444 0.0441 -2 +chr2 179605180 TTN C T,A 2 0.0760783 . 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 0.0459 synonymous_SNV exonic . . 0.0443 0.0442 -10 +chr2 179605380 TTN T A 2 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 -8 +chr2 179605705 TTN A G 2 0.0760783 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 synonymous_SNV exonic . 0.0437 0.0444 0.0442 -2 +chr2 179605725 TTN T C 7 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 -10 +chr2 179605912 TTN C T 1 . -0.222 . . . 9.018e-05 nonsynonymous_SNV exonic T . 9.016e-05 6.662e-05 4 +chr2 179606538 TTN G A 11 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 -2 +chr2 179610426 TTN C A 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr2 179611711 TTN C A 2 0.0772764 0.758 MedGen:CN169374 not_specified Benign 0.0459 nonsynonymous_SNV exonic T 0.0433 0.0444 0.0441 -2 +chr2 179611847 TTN TCTCC GCTCT 1 . . . . . . nonframeshift_substitution exonic . . . . 4 +chr2 179612373 TTN A C 1 0.00579073 . MedGen:CN169374 not_specified Benign 0.0032 synonymous_SNV exonic . 0.0037 0.0032 0.0023 0 +chr2 179612383 TTN C T 6 0.0145767 1.322 MedGen:CN169374 not_specified Benign 0.0561 nonsynonymous_SNV exonic T 0.0582 0.0580 0.0492 -2 +chr2 179612635 TTN C T 1 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 -4 +chr2 179612913 TTN G A 2 0.000199681 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0020 synonymous_SNV exonic . 0.0020 0.0017 0.0021 0 +chr2 179613179 TTN G A 1 0.00119808 0.117 MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:CN169374|MedGen:CN517202 Distal_myopathy_Markesbery-Griggs_type|not_specified|not_provided Likely_benign 0.0032 nonsynonymous_SNV exonic T 0.0043 0.0034 0.0045 0 +chr2 179613191 TTN T C 5 0.00259585 0.041 MedGen:CN169374 not_specified Benign 0.0107 nonsynonymous_SNV exonic T 0.0093 0.0085 0.0068 -2 +chr2 179613651 TTN G A 8 0.0109824 . MedGen:CN169374 not_specified Benign 0.0288 synonymous_SNV exonic . 0.0356 0.0331 0.0291 -2 +chr2 179614253 TTN C A 1 . -0.029 . . . . nonsynonymous_SNV exonic T . 0 . 4 +chr2 179614952 TTN A G 230 0.97504 . MedGen:CN169374 not_specified Benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9999 -2 +chr2 179615278 TTN A G 1 0.000399361 1.829 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Likely_benign 0.0024 nonsynonymous_SNV exonic T 0.0030 0.0030 0.0026 0 +chr2 179615321 TTN G A 1 . 0.587 . . . 1.543e-05 stopgain exonic . . 9.106e-06 0 12 +chr2 179615811 TTN A T 1 . -0.078 . . . . nonsynonymous_SNV exonic T . . . 4 +chr2 179615887 TTN T C 220 0.733027 0.654 MedGen:CN169374 not_specified Benign 0.9251 nonsynonymous_SNV exonic T 0.9303 0.9291 0.9301 -2 +chr2 179615931 TTN C G 230 0.97504 0.163 MedGen:CN169374 not_specified Benign 0.9997 nonsynonymous_SNV exonic T 0.9992 0.9998 0.9999 -2 +chr2 179615994 TTN T C 230 0.97504 . MedGen:CN169374 not_specified Benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9998 -2 +chr2 179616210 TTN G A 2 0.000998403 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0012 synonymous_SNV exonic . 0.0017 0.0015 0.0019 0 +chr2 179616717 TTN G A 1 . . MedGen:CN169374 not_specified Likely_benign 7.559e-05 synonymous_SNV exonic . . 4.826e-05 0 4 +chr2 179616768 TTN TGGA TGT 3 . . . . . . . intronic . . . . 8 +chr2 179616769 TTN GGAAAAAAAAAAAAAAAC GTAAAAAAAAAAAAAC,TGAAAAAAAAAAAAAAAC,TTAAAAAAAAAAAAAAAC,GTAAAAAAAAAAAAAAAC,GGAAAAAAAAAAAAAAC 3 0.526158 . MedGen:C1858763,OMIM:604145|MedGen:C1861065,OMIM:613765|MedGen:CN169374 Dilated_cardiomyopathy_1G|Familial_hypertrophic_cardiomyopathy_9|not_specified Conflicting_interpretations_of_pathogenicity 0.4633 . intronic\x3bintronic . . 0.4596 0.6469 2 +chr2 179616770 TTN GAAAAAAAAAAAAAAAC TAAAAAAAAAAAAAAAC,GAAAAAAAAAAAAAAC,GAAAAAAAAAAAAAC,GTAAAAAAAAAAAAAAC 3 . . . . . . . intronic . . . . 8 +chr2 179620949 TTN CAC CAT,AAC 3 . 3.397 . . . . nonsynonymous_SNV exonic T . . . 8 +chr2 179620950 TTN AC AT 2 . . . . . . frameshift_deletion\x3bframeshift_deletion exonic\x3bexonic . . . . 4 +chr2 179620951 TTN C T 216 0.804513 3.252 MedGen:CN169374 not_specified Benign 0.9274 nonsynonymous_SNV exonic T 0.9321 0.9303 0.9314 -2 +chr2 179621184 TTN G A 4 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 -10 +chr2 179621323 TTN A G 1 . 0.237 . . . . nonsynonymous_SNV exonic T . . . 4 +chr2 179621477 TTN C T 230 0.999002 . MedGen:CN169374 not_specified Benign/Likely_benign 1 nonsynonymous_SNV exonic . 1 1.0000 1 -2 +chr2 179621503 TTN C T 8 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 -10 +chr2 179623758 TTN C T 220 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 -6 +chr2 179629363 TTN T C 230 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 -6 +chr2 179629461 TTN C T 220 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 -6 +chr2 179631214 TTN T C 10 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 -6 +chr2 179632496 TTN T C 7 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 -6 +chr2 179632598 TTN C T 4 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 8 +chr2 179632757 TTN G A 1 . . . . . 0 synonymous_SNV exonic . . 0 . 4 +chr2 179633644 TTN G C 7 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 -6 +chr2 179634374 TTN GTGTATATATATATATATATTTTTTAAC GTGTATATATATATATATATTTTAAC,GTGTATATATATATATATTTTTTAAC,GTGTATATATATATATTTTTTTTAAC,ATGTGTATATATATATATATTTTTTAAC,ATGTGTATATATATATATTTTTTTTAAC 7 . . . . . . . intronic . . . . 12 +chr2 179634376 TTN GTATATATATATATATAT GTATATATATATATTT,GTATATATATATATAT,GTGTATATATATATATAT,GTGTATATATATATATTT 7 . . . . . . . intronic . . . . 12 +chr2 179634839 TTN T C 1 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Likely_benign 0.0005 synonymous_SNV exonic . 0.0003 0.0002 0.0001 -4 +chr2 179634936 TTN C T 3 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 -6 +chr2 179634961 TTN C A 5 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 -10 +chr2 179635919 TTN C T 11 0.0155751 . MedGen:CN169374 not_specified Benign 0.0360 . intronic . 0.0377 0.0369 0.0349 -2 +chr2 179637861 TTN C G 2 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 -6 +chr2 179638238 TTN G A 35 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 -6 +chr2 179638314 TTN CGGT CGC 1 . . . . . . frameshift_substitution exonic . . . . 4 +chr2 179638721 TTN C T 7 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 -6 +chr2 179638854 TTN G A 1 0.000199681 . . . . 0.0001 . intronic . . 0.0001 . 2 +chr2 179639143 TTN GA TT 1 . . . . . . nonframeshift_substitution exonic . . . . 4 +chr2 179640598 TTN C T 1 0.00159744 3.059 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 0.0012 nonsynonymous_SNV exonic T 0.0012 0.0006 0.0009 4 +chr2 179640894 TTN G A 1 . . 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 synonymous_SNV exonic . 0.0005 0.0004 6.66e-05 4 +chr2 179641009 TTN C T 1 . 3.119 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 0.0001 nonsynonymous_SNV exonic T 0.0001 0.0002 6.666e-05 2 +chr2 179641975 TTN C T 2 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 -6 +chr2 179642162 TTN T C 2 0.0119808 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 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 0.0029 nonsynonymous_SNV exonic T 0.0022 0.0013 0.0005 -6 +chr2 179642425 LOC101927055 G A 229 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 -6 +chr2 179642431 TTN C T 1 . 3.382 . . . 1.499e-05 nonsynonymous_SNV exonic D . 8.995e-06 . 7 +chr2 179642589 TTN C G 5 0.0103834 4.261 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 0.0076 0.0106 0.0089 -10 +chr2 179643733 TTN T C 1 . 2.651 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 0.0002 nonsynonymous_SNV exonic T . 0.0001 . 6 +chr2 179643775 TTN C T 2 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 +chr2 179644035 TTN G A 229 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 -6 +chr2 179644041 TTN A C 1 . 2.245 . . . . nonsynonymous_SNV exonic D . . . 7 +chr2 179644160 TTN T C 2 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 -6 +chr2 179644855 TTN T C 198 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 -6 +chr2 179647078 TTN C A 1 . 2.555 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 0.0002 nonsynonymous_SNV exonic T . 0.0001 . 6 +chr2 179647533 TTN C T 1 0.000399361 3.404 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: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 Primary_dilated_cardiomyopathy|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 0.0012 0.0011 0.0015 4 +chr2 179647546 TTN A G 2 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 -6 +chr2 179648457 TTN G T 1 . 2.837 . . . . nonsynonymous_SNV exonic T . . . 4 +chr2 179648562 TTN T C 1 . . . . . 4.682e-05 . intronic . . 3.67e-05 . 4 +chr2 179650408 TTN G A 53 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 -6 +chr2 179650427 TTN C T 1 . 2.982 . . . . nonsynonymous_SNV exonic T . . . 4 +chr2 179650701 TTN C T 77 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 -6 +chr2 179650794 TTN G A 1 . . 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 9.038e-05 synonymous_SNV exonic . 0.0001 0.0001 6.662e-05 0 +chr2 179654695 TTN C G 1 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 4 +chr2 179658175 TTN C T 6 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 -6 +chr2 179659108 TTN T C 1 0.00119808 . MedGen:CN169374 not_specified Benign 0.0031 . intronic . 0.0021 0.0029 0.0032 0 +chr2 179659110 TTN G A 1 0.00599042 . MedGen:CN169374 not_specified Benign 0.0024 . intronic . 0.0022 0.0018 0.0018 0 +chr2 179659294 TTN C T 2 0.000998403 . MedGen:CN169374 not_specified Benign 0.0012 . intronic . 0.0014 0.0011 0.0005 0 +chr2 179659757 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 Conflicting_interpretations_of_pathogenicity 0.0024 synonymous_SNV exonic . 0.0022 0.0018 0.0018 4 +chr2 179659815 TTN C G 1 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 -6 +chr2 179659912 TTN G A 21 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 -6 +chr2 179665279 TTN G A 1 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 4 +chr2 179666933 TTN C G 1 . 2.526 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Uncertain_significance 0.0002 nonsynonymous_SNV exonic D 0.0007 0.0002 0.0003 3 +chr2 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 -6 +chr2 179669244 TTN GAAAAAAAAACAAAAGTG GAAAAAAAAAACAAAAGTG 1 0.00419329 . . . . 0.0057 . intronic . 0.0045 0.0018 0.0002 0 +chr2 220283259 DES A G 228 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 -10 +chr2 220283275 DES AGT AGC,CGT 228 . 1.765 . . . . nonsynonymous_SNV exonic T . . . 12 +chr2 220283276 DES GT GC 20 . . . . . . frameshift_deletion\x3bframeshift_deletion exonic\x3bexonic . . . . 12 +chr2 220283277 DES T C 200 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 -10 +chr2 220283592 DES C T 8 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 -10 +chr2 220284778 DES TC TT 2 . . . . . . . intronic . . . . 4 +chr2 220284779 DES C T 147 0.529353 . MedGen:CN169374 not_specified Benign 0.6272 . intronic . 0.6303 0.6307 0.6482 -2 +chr2 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 8 +chr2 220285002 DES T C 2 0.029353 . 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:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.0008 synonymous_SNV exonic . 0.0008 0.0010 0.0012 -10 +chr2 220285088 DES C T 6 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 -2 +chr2 220285309 DES C T 79 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 -10 +chr2 220285666 DES G C 79 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 -10 +chr2 220286142 DES G A 79 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 -10 +chr20 30407387 MYLK2 G A 1 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 0 +chr20 30407934 MYLK2 G A 1 . 0.768 . . . . nonsynonymous_SNV exonic T . 9.125e-06 . 4 +chr20 30408306 MYLK2 C G 1 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 -2 +chr20 30409452 MYLK2 T C 28 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 -2 +chr20 30412101 MYLK2 C T 5 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 +chr20 30412168 MYLK2 CG CA 1 . . . . . . . intronic . . 1.974e-05 . 4 +chr20 30412169 MYLK2 G A 1 0.000399361 . 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 0.0006 . intronic . 0.0006 0.0005 0.0003 0 +chr20 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 -2 +chr20 30414528 MYLK2 G A 7 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 -2 +chr20 30414621 MYLK2 C T 3 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 +chr20 30419813 MYLK2 G A 1 0.000399361 . MedGen:C3495498,OMIM:192600|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_1|not_specified Benign/Likely_benign 0.0010 synonymous_SNV exonic . 0.0015 0.0012 0.0012 0 +chr20 30419834 MYLK2 C T 1 . . . . . 1.981e-05 synonymous_SNV exonic . . 9.568e-06 0 4 +chr20 30419886 MYLK2 C T 1 . 6.466 MedGen:C3495498,OMIM:192600|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_1|not_specified Uncertain_significance 4.059e-05 nonsynonymous_SNV exonic T . 5.644e-05 0 7 +chr20 30419954 MYLK2 AGGGT GGGGT,TGGGG,CGGGG,CGGGT,TGGGT 1 . . . . . . . intronic . . . . 4 +chr20 31996308 SNTA1 G A 1 . . . . . 0 . UTR3 . . 8.958e-06 . 4 +chr20 31996708 SNTA1 A G 1 . . . . . 7.575e-05 . intronic . 0.0002 9.92e-05 . 2 +chr20 32000158 SNTA1 G A 1 . . 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 Conflicting_interpretations_of_pathogenicity 0.0017 synonymous_SNV exonic . 0.0013 0.0014 0.0043 0 +chr20 32000462 SNTA1 C T 6 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 +chr20 32031310 SNTA1 C T 1 . . MedGen:CN169374 not_specified Likely_benign . synonymous_SNV exonic . . 3.721e-05 . 4 +chr20 32031359 SNTA1 GCCCCCG GCCCCG 2 . . . . . . frameshift_deletion exonic . . 0 . 4 +chr20 32031368 SNTA1 C A 2 . 3.577 . . . . nonsynonymous_SNV exonic T . . . 4 +chr20 32031392 SNTA1 A C 2 . 5.761 . . . . nonsynonymous_SNV exonic T . . . 7 +chr20 32031401 SNTA1 C A 2 . 4.543 . . . . nonsynonymous_SNV exonic T . . . 4 +chr20 42743452 JPH2 ACA ACG,CCA 2 . 6.037 . . . . nonsynonymous_SNV exonic T . . . 7 +chr20 42743453 JPH2 CA CG 4 . . . . . . frameshift_deletion\x3bframeshift_deletion exonic\x3bexonic . . . . 8 +chr20 42743454 JPH2 A G 65 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 +chr20 42744448 JPH2 C G 1 . 0.897 . . . 0.0001 nonsynonymous_SNV exonic T . 7.646e-05 6.677e-05 4 +chr20 42744463 JPH2 T C 1 . -2.234 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Uncertain_significance 0.0004 nonsynonymous_SNV exonic T 0.0003 0.0004 0.0003 2 +chr20 42744514 JPH2 T G 1 . -0.606 . . . . nonsynonymous_SNV exonic T . . . 4 +chr20 42744586 JPH2 CG CC 2 . . . . . . frameshift_deletion exonic . . . . 4 +chr20 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 +chr20 42744802 JPH2 C T 4 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 -2 +chr20 42745033 JPH2 G A 2 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 +chr20 42747247 JPH2 C T 34 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 1 +chr20 42747254 JPH2 G A 23 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 +chr20 42788237 JPH2 CCA CCC 11 . . . . . . . intronic . . . . 12 +chr20 42788239 JPH2 A C 39 . . . . . . . intronic . . . . 12 +chr20 42788245 JPH2 A C 70 . . . . . . . intronic . . . . 12 +chr20 42788790 JPH2 G A 2 . 5.096 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0 nonsynonymous_SNV exonic T . 9.135e-05 0 7 +chr20 42789053 JPH2 G A 2 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 0 +chr20 42806645 JPH2 G A 1 . . . . . 1.499e-05 . intronic . . 1.831e-05 . 4 +chr20 42815120 JPH2 T C 1 . 4.909 MedGen:CN169374 not_specified Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic T . 2.691e-05 6.697e-05 4 +chr20 42815190 JPH2 G A 196 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 +chr20 61039957 GATA5 TT TC,GT 196 . 1.828 . . . . nonsynonymous_SNV exonic D . . . 15 +chr20 61039958 GATA5 T C,G 196 . . . . . . synonymous_SNV exonic . . . . 12 +chr20 61040376 GATA5 A C 2 . . . . . 2.391e-05 . intronic . . 1.056e-05 . 4 +chr20 61040381 GATA5 A C 1 . . . . . . . intronic . . . . 4 +chr20 61040386 GATA5 A C 2 . . . . . . . intronic . . . . 4 +chr20 61040451 GATA5 TTC TTG,GTC 2 . 2.095 . . . . nonsynonymous_SNV exonic D . . . 7 +chr20 61040452 GATA5 TC TG,GC 2 . 3.191 . . . . nonsynonymous_SNV exonic D . . . 7 +chr20 61040453 GATA5 C G,A 2 . . . . . . synonymous_SNV exonic . . . . 4 +chr20 61040951 GATA5 C T 117 0.529553 . . . . 0.5459 synonymous_SNV exonic . 0.4776 0.4787 0.4993 -2 +chr20 61048450 GATA5 C G 1 . . . . . 7.842e-05 . intronic . . 3.088e-05 . 4 +chr20 61048460 GATA5 A G 2 0.00219649 3.750 . . . 0.0033 nonsynonymous_SNV exonic D 0.0014 0.0021 0.0016 3 +chr20 61048549 GATA5 G A 102 0.388179 . . . . 0.4679 synonymous_SNV exonic . 0.4344 0.4383 0.4330 -2 +chr20 61050378 GATA5 GT GG 1 . . . . . . frameshift_deletion exonic . . . . 4 +chr20 61050379 GATA5 T G 21 0.142572 0.113 . . . 0.2407 nonsynonymous_SNV exonic T . 0.1733 0.1805 -2 +chr20 61050568 GATA5 T G 1 . 5.299 . . . . nonsynonymous_SNV exonic D . . . 10 +chr21 35742799 KCNE2 A G 3 0.00139776 4.000 MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN221566|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome_6|not_specified|Long_QT_syndrome,_drug-associated|Cardiovascular_phenotype|not_provided Benign 0.0054 nonsynonymous_SNV exonic D 0.0069 0.0060 0.0064 7 +chr21 35742806 KCNE2 C T 1 . 2.699 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C3150953,OMIM:613693|MedGen:CN169374 Long_QT_syndrome|Congenital_long_QT_syndrome|Long_QT_syndrome_6|not_specified Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic D . 0.0002 6.66e-05 5 +chr21 35742947 KCNE2 T C 4 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 10 +chr21 35743006 KCNE2 C T 1 . 7.201 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:CN169374 Long_QT_syndrome|Congenital_long_QT_syndrome|not_specified Uncertain_significance 0.0001 nonsynonymous_SNV exonic D 0.0002 0.0001 . 8 +chr21 35743116 KCNE2 C T 1 . . MedGen:C3150953,OMIM:613693 Long_QT_syndrome_6 Likely_benign . synonymous_SNV exonic . . 1.791e-05 . 4 +chr21 35821817 KCNE1 TCACT TCACC,GCACT 1 . 0.463 . . . . nonsynonymous_SNV exonic D . . . 7 +chr21 35821818 KCNE1 CACT CACC 4 . . . . . . frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion exonic\x3bexonic\x3bexonic\x3bexonic . . . . 8 +chr21 35821819 KCNE1 ACT ACC 2 . . . . . . frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion exonic\x3bexonic\x3bexonic\x3bexonic . . . . 4 +chr21 35821820 KCNE1 CT CC 4 . . . . . . frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion exonic\x3bexonic\x3bexonic\x3bexonic . . . . 8 +chr21 35821821 KCNE1 T C 122 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 -2 +chr22 19865869 TXNRD2 T C 2 0.0848642 . MedGen:CN169374 not_specified Benign 0.0010 . intronic . 0.0005 0.0011 0.0013 -2 +chr22 19867771 TXNRD2 C T 48 0.269169 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1620 unknown exonic . 0.1615 0.1619 0.1510 -2 +chr22 19868177 TXNRD2 C T 2 0.00179712 2.609 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 0.0116 unknown exonic T 0.0057 0.0085 0.0159 -10 +chr22 19868218 TXNRD2 A G 167 0.718251 2.110 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.7400 unknown exonic T 0.7377 0.7391 0.7310 -2 +chr22 19868228 TXNRD2 G A 2 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 -10 +chr22 19868255 TXNRD2 AGGGGGGCCA AGGGGGCCA 46 0.156749 . MedGen:CN169374 not_specified Benign 0.1660 . intronic . 0.1610 0.1565 0.1480 -2 +chr22 19870831 TXNRD2 C T 64 0.221645 . MedGen:CN169374 not_specified Benign 0.3069 . intronic . 0.2962 0.3038 0.3008 -2 +chr22 19870995 TXNRD2 CAGAGAGG CAGAGG 1 . . . . . . . intronic . . 1.791e-05 . 4 +chr22 19882976 TXNRD2 G T 1 0.0123802 . 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 0.0005 synonymous_SNV exonic . 0.0007 0.0005 0.0002 -10 +chr22 19882984 TXNRD2 T G 45 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 -2 +chr22 19883123 TXNRD2 C T 1 0.000399361 . MedGen:CN169374 not_specified Likely_benign 0.0009 . intronic . 0.0004 0.0009 0.0006 0 +chr22 19885548 TXNRD2 G T 45 0.242212 . MedGen:CN169374 not_specified Benign 0.2105 . intronic . 0.1568 0.1687 0.1568 -2 +chr22 19898879 TXNRD2 C T 1 . . . . . 3.017e-05 . intronic . . 2.686e-05 0 4 +chr22 19898886 TXNRD2 C T 27 0.171526 . MedGen:CN169374 not_specified Benign 0.0908 . intronic . 0.0903 0.0908 0.1058 -2 +chr22 19898887 TXNRD2 G A 7 0.048123 . MedGen:CN169374 not_specified Benign 0.0194 . intronic . 0.0214 0.0205 0.0185 -2 +chr22 19898951 TXNRD2 T C 1 . 4.921 . . . 5.999e-05 nonsynonymous_SNV exonic T . 9.847e-05 6.667e-05 4 +chr22 19903379 TXNRD2 GATA GA 1 . . . . . . . intronic . . . . 4 +chr22 19905748 TXNRD2 G A 3 0.000399361 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Likely_benign 0.0007 . intronic . 0.0010 0.0006 0.0009 0 +chr22 19905802 TXNRD2 G A 143 0.7498 . . . . . . intronic . 0.5597 . 0.5638 -2 +chr22 19906370 TXNRD2 G A 7 0.0297524 . MedGen:CN169374 not_specified Benign 0.0248 . intronic . 0.0297 0.0276 0.0226 -2 +chr22 19906511 TXNRD2 G A 40 0.168131 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1510 synonymous_SNV exonic . 0.1476 0.1457 0.1431 -2 +chr22 19907099 TXNRD2 C A 88 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 1 +chr22 19907118 TXNRD2 G A 128 0.596845 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.5426 synonymous_SNV exonic . 0.4793 0.4826 0.5193 -2 +chr22 19907192 TXNRD2 A G 142 0.754393 . . . . . . intronic . 0.5575 . 0.5641 -2 +chr22 19929193 TXNRD2 C T 1 . . . . . . . intronic . . . . 4 +chr22 19929212 TXNRD2 A C 1 . . . . . . . intronic . . . . 4 +chr3 8775589 CAV3 C T 18 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 -2 +chr3 8775661 CAV3 C T 61 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 -2 +chr3 8775702 CAV3 G A 14 0.076877 . MedGen:CN517202 not_provided not_provided 0.0556 . intronic . 0.0499 0.0503 0.0580 -2 +chr3 8787220 CAV3 T C 25 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 -2 +chr3 8787330 CAV3 C T 5 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 11 +chr3 12626019 RAF1 G A 2 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 -2 +chr3 12629158 RAF1 T C 1 . . . . . 2.998e-05 . intronic . . 1.793e-05 . 4 +chr3 12633168 RAF1 A G 3 0.0213658 . MedGen:CN169374 not_specified Benign 0.0133 . intronic . 0.0119 0.0137 0.0116 -2 +chr3 12647755 RAF1 G C 1 . 2.070 . . . . nonsynonymous_SNV exonic T . . . 4 +chr3 12647830 RAF1 G A 3 0.00299521 . . . . 0.0045 . intronic . 0.0042 0.0039 0.0026 4 +chr3 14166739 TMEM43 G C 1 0.00199681 . . . . 0.0054 . intronic . 0.0037 0.0045 0.0047 0 +chr3 14170981 TMEM43 C T 1 0.00838658 7.959 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 0.0011 nonsynonymous_SNV exonic T 0.0010 0.0006 0.0005 3 +chr3 14172300 TMEM43 C T 1 0.00139776 . . . . 4.523e-05 . intronic . . 2.694e-05 0 0 +chr3 14172381 TMEM43 C T 4 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 -2 +chr3 14173190 TMEM43 G A 1 0.00119808 . MedGen:CN169374 not_specified Benign 6.708e-05 . intronic . 0.0001 7.259e-05 0 0 +chr3 14174146 TMEM43 T C 71 0.557308 . . . . 0.3973 . intronic . 0.4069 0.3989 0.4133 -2 +chr3 14174427 TMEM43 A T 47 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 -2 +chr3 14175262 TMEM43 T C 48 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 -2 +chr3 14180706 TMEM43 C T 10 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 -2 +chr3 14180731 TMEM43 C T 1 0.00379393 7.570 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0113 nonsynonymous_SNV exonic T 0.0134 0.0121 0.0123 1 +chr3 14183188 TMEM43 G A 1 0.00559105 3.885 MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype Benign 8.994e-05 nonsynonymous_SNV exonic T 0.0002 8.06e-05 6.668e-05 0 +chr3 14183242 TMEM43 C G 1 0.000199681 -0.518 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005 Arrhythmogenic_right_ventricular_cardiomyopathy Likely_pathogenic 6.002e-05 nonsynonymous_SNV exonic T . 5.373e-05 0 2 +chr3 32148311 GPD1L T G 3 . . . . . . . intronic . . . . 8 +chr3 32181709 GPD1L CA AT 1 . . . . . . . intronic . . . . 4 +chr3 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 2 +chr3 32181761 GPD1L C T 46 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 +chr3 32188248 GPD1L GAG GG 8 0.101637 . . . . 0.0185 . intronic . 0.0194 0.0189 0.0159 -2 +chr3 32200588 GPD1L C T 1 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 2 +chr3 38592019 SCN5A G A 3 0.067492 . 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 0.0010 synonymous_SNV exonic . 0.0017 0.0010 0.0013 -6 +chr3 38592406 SCN5A A G 78 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 -6 +chr3 38592527 SCN5A G A 2 . 6.023 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Congenital_long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype Uncertain_significance 4.495e-05 nonsynonymous_SNV exonic D 0.0001 5.371e-05 6.674e-05 10 +chr3 38595797 SCN5A A T 1 . 5.103 MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Congenital_long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype Uncertain_significance 0.0001 nonsynonymous_SNV exonic D . 0.0002 0.0003 8 +chr3 38597180 SCN5A G A 2 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 0 +chr3 38601667 SCN5A C G 1 . 6.995 . . . . nonsynonymous_SNV exonic D . . . 10 +chr3 38620853 SCN5A G A 1 . 0.264 . . . 3.934e-05 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T . 2.985e-05 . 4 +chr3 38620946 SCN5A G A 2 0.00439297 0.558 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 4.901e-05 nonsynonymous_SNV exonic T . 3.645e-05 6.678e-05 0 +chr3 38622467 SCN5A T C 211 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 -6 +chr3 38622868 SCN5A G A 7 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 -6 +chr3 38627130 SCN5A GGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGGC TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGC,GGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGC,GGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGC,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGC,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGC,TGTAGCTGGGTAGATGAGTGGATGGTGTGTGTGTGGC 7 . . . . . . . intronic . . . . 12 +chr3 38639300 SCN5A C T 1 . 3.459 . . . . nonsynonymous_SNV exonic D . 8.954e-06 . 7 +chr3 38645189 SCN5A C T 1 0.00239617 . MedGen:CN169374 not_specified Benign 3.294e-05 . intronic . . 4.828e-05 6.676e-05 0 +chr3 38645283 SCN5A G C 1 . 2.190 . . . . nonsynonymous_SNV exonic T . 9.549e-06 . 4 +chr3 38645420 SCN5A T C 55 0.230431 -1.102 . . . 0.2246 nonsynonymous_SNV exonic T 0.2321 0.2301 0.2467 -2 +chr3 38645522 SCN5A G T 2 0.0113818 2.438 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1859062,OMIM:603830|MedGen:CN029323,OMIM:601144|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Long_QT_syndrome_3|Brugada_syndrome_1|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0015 nonsynonymous_SNV exonic T 0.0008 0.0004 0.0003 -2 +chr3 38647642 SCN5A G T 48 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 -6 +chr3 38651442 SCN5A G A 1 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 0 +chr3 38655196 SCN5A C T 1 . . . . . . . intronic . . . . 4 +chr3 38655272 SCN5A C T 2 . 2.608 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832680,OMIM:601154|MedGen:CN517202 Primary_dilated_cardiomyopathy|Congenital_long_QT_syndrome|Brugada_syndrome|Dilated_cardiomyopathy_1E|not_provided Pathogenic . nonsynonymous_SNV exonic D . . . 15 +chr3 38671944 SCN5A G A 1 0.0644968 . MedGen:CN169374 not_specified Benign 0.0184 . intronic . 0.0175 0.0185 0.0191 -2 +chr3 38674698 SCN5A C T 1 . 5.028 MedGen:CN517202 not_provided not_provided 0 nonsynonymous_SNV exonic D . 0 . 10 +chr3 38674699 SCN5A G A 3 0.0371406 5.725 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 Benign/Likely_benign 0.0012 nonsynonymous_SNV exonic T 0.0013 0.0014 0.0014 -3 +chr3 38674712 SCN5A T C 177 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 -6 +chr3 38674747 SCN5A G A 1 0.000199681 7.377 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C4053736,OMIM:604772|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Brugada_syndrome|Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 9.096e-05 nonsynonymous_SNV exonic D . 9.862e-05 0.0003 8 +chr3 38738936 SCN10A A C 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr3 38739455 SCN10A G A 1 0.000199681 . . . . 5.994e-05 synonymous_SNV exonic . 0.0002 6.285e-05 0.0001 2 +chr3 38739494 SCN10A G A 2 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 +chr3 38739574 SCN10A T C 230 1 0.227 MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic T . 1 1 -2 +chr3 38739622 SCN10A C T 2 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 -2 +chr3 38739727 SCN10A C T 2 0.000998403 6.647 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0007 nonsynonymous_SNV exonic D 0.0019 0.0008 0.0007 6 +chr3 38739834 SCN10A A G 2 . 4.556 . . . . nonsynonymous_SNV exonic D . . . 7 +chr3 38739837 SCN10A C A 2 . 6.226 . . . . nonsynonymous_SNV exonic D . . . 10 +chr3 38739838 SCN10A C T 2 . 6.917 . . . 0 nonsynonymous_SNV exonic D . 0 . 10 +chr3 38739845 SCN10A A G 207 0.92472 . MedGen:CN169374 not_specified Benign 0.9180 synonymous_SNV exonic . 0.9151 0.9162 0.9122 -2 +chr3 38739857 SCN10A C T 1 . 6.248 . . . . nonsynonymous_SNV exonic D . . . 10 +chr3 38739976 SCN10A G A 1 . 13.467 . . . 1.499e-05 stopgain exonic . . 8.973e-06 . 12 +chr3 38740001 SCN10A C T 2 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 +chr3 38740051 SCN10A G A 1 . . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Likely_benign 3.038e-05 synonymous_SNV exonic . . 6.328e-05 6.667e-05 4 +chr3 38743571 SCN10A G A 4 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 4 +chr3 38748833 SCN10A T C 41 0.242412 . MedGen:CN169374 not_specified Benign 0.1396 synonymous_SNV exonic . 0.1430 0.1404 0.1377 -2 +chr3 38753732 SCN10A A T 2 0.00119808 -1.271 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202 Brugada_syndrome|not_specified|not_provided Benign 0.0066 nonsynonymous_SNV exonic T 0.0065 0.0072 0.0053 0 +chr3 38760151 SCN10A A G 1 . 6.175 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202 Brugada_syndrome|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic D 0.0007 0.0008 0.0007 6 +chr3 38763863 SCN10A G C 61 0.219649 . MedGen:CN169374 not_specified Benign 0.2636 synonymous_SNV exonic . 0.2602 0.2571 0.2677 -2 +chr3 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 -2 +chr3 38766675 SCN10A A G 138 0.757987 -0.943 MedGen:CN169374 not_specified Benign 0.6036 nonsynonymous_SNV exonic T 0.6019 0.6030 0.6167 -2 +chr3 38766701 SCN10A C T 28 0.115415 . MedGen:CN169374 not_specified Benign 0.1411 synonymous_SNV exonic . 0.1414 0.1448 0.1510 -2 +chr3 38766760 SCN10A G T 2 0.00559105 0.370 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0224 nonsynonymous_SNV exonic T 0.0317 0.0244 0.0246 -2 +chr3 38766825 SCN10A A G 9 0.0844649 . MedGen:CN169374 not_specified Benign 0.0512 . intronic . 0.0492 0.0506 0.0473 -2 +chr3 38768247 SCN10A G A 60 0.190495 . MedGen:CN169374 not_specified Benign 0.2635 synonymous_SNV exonic . 0.2614 0.2571 0.2661 -2 +chr3 38768300 SCN10A T C 60 0.210663 -1.544 MedGen:CN169374 not_specified Benign 0.2642 nonsynonymous_SNV exonic T 0.2620 0.2575 0.2662 -2 +chr3 38768334 SCN10A T C 10 0.135982 . MedGen:CN169374 not_specified Benign 0.0644 synonymous_SNV exonic . 0.0648 0.0656 0.0613 -2 +chr3 38768368 SCN10A GGG AGA 1 . . . . . . nonframeshift_substitution exonic . . . . 4 +chr3 38768435 SCN10A T C 1 . 2.820 . . . . nonsynonymous_SNV exonic T . 8.959e-06 . 4 +chr3 38784029 SCN10A T C 134 0.757788 . MedGen:CN169374 not_specified Benign 0.5976 . intronic . 0.5951 0.5958 0.6096 -2 +chr3 38793940 SCN10A A G,C 134 . -2.180 . . . . nonsynonymous_SNV exonic T . . . 12 +chr3 38793989 SCN10A G A 59 0.207668 . MedGen:CN169374 not_specified Benign 0.2599 synonymous_SNV exonic . 0.2523 0.2507 0.2585 -2 +chr3 38798171 SCN10A C T 56 0.207468 . MedGen:CN169374 not_specified Benign 0.2542 synonymous_SNV exonic . 0.2509 0.2474 0.2567 -2 +chr3 38798632 SCN10A A G 1 . . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign 0.0004 synonymous_SNV exonic . 0.0008 0.0005 0.0005 0 +chr3 38802251 SCN10A A G 67 0.388778 . MedGen:CN169374 not_specified Benign 0.2855 . intronic . 0.2826 0.2779 0.2867 -2 +chr3 38805069 SCN10A T C 3 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 -2 +chr3 38805130 SCN10A C G 18 0.11901 . . . . 0.0471 . intronic . 0.0463 0.0457 0.0483 -2 +chr3 38835348 SCN10A G A 1 . 5.592 . . . 1.499e-05 nonsynonymous_SNV exonic D . 8.973e-06 . 10 +chr3 38835509 SCN10A T A 1 0.000599042 . MedGen:CN169374 not_specified Likely_benign 0.0014 . upstream . 0.0013 0.0015 0.0035 0 +chr3 46899855 MYL3 C T 1 0.00139776 . MedGen:CN169374 not_specified Benign 0.0003 . intronic . . 0.0002 0.0002 0 +chr3 46899881 MYL3 G A 1 . . . . . . synonymous_SNV exonic . . 0 0 4 +chr3 46899968 MYL3 G A 1 . . MedGen:CN169374 not_specified Benign 0.0004 . intronic . 0.0009 0.0004 0.0013 0 +chr3 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 0 +chr3 52485794 TNNC1 C T 1 . 4.669 . . . . nonsynonymous_SNV exonic D . . . 7 +chr3 52485839 TNNC1 T A 1 . 2.734 . . . . nonsynonymous_SNV exonic T . . . 4 +chr3 52486112 TNNC1 G C 1 . . . . . . . intronic . . . . 4 +chr3 57817096 SLMAP GTTTTTTTTTG GTTTTTTTTTTG 3 0.0109824 . . . . 0.0110 . intronic . 0.0146 0.0064 0.0035 -2 +chr3 57835502 SLMAP A G 1 . 1.283 . . . . nonsynonymous_SNV exonic T . 8.967e-06 . 4 +chr3 57835519 SLMAP A G 2 0.000798722 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign 0.0036 synonymous_SNV exonic . 0.0036 0.0031 0.0025 0 +chr3 57846576 SLMAP TCA TAA 2 0.228634 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.2301 . intronic\x3bintronic . 0.1615 0.2452 0.2002 -2 +chr3 57846577 SLMAP CAAAAAAAAAATACTAAATAG AAAAAAAAAAATACTAAATAG,CAAAAAAAAATACTAAATAG 2 . . . . . 0.0496 . intronic . . 0.0124 0.0004 -2 +chr3 57850310 SLMAP G A 1 . . . . . 0.0003 synonymous_SNV exonic . 0.0002 0.0002 0.0003 2 +chr3 57850505 SLMAP CTTTTTTTTTTTTGGAC CTTTTTTTTTTTGGAC,CTTTTTTTTTTTTTGGAC,CTTTTTTTTTTTTGGAA 1 . . . . . . . intronic . . . . 4 +chr3 57857439 SLMAP A G 11 0.0147764 . MedGen:CN169374 not_specified Benign 0.0489 . intronic . 0.0506 0.0523 0.0452 -2 +chr3 57882581 SLMAP ATTTTTTTCCTCTCTG ATTTTTTCCTCTCTG 1 . . . . . . . intronic . . . . 4 +chr3 57882601 SLMAP C T 72 0.299521 . MedGen:CN169374 not_specified Benign 0.2669 synonymous_SNV exonic . 0.2420 0.2560 0.2499 -2 +chr3 57898376 SLMAP T A 1 0.0071885 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign 0.0282 synonymous_SNV exonic . 0.0320 0.0294 0.0254 -2 +chr3 57899013 SLMAP ACTCTCTG ACTCTG 2 . . . . . . . intronic . . 3.82e-05 . 4 +chr3 57902639 SLMAP G A 8 0.0133786 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign 0.0334 synonymous_SNV exonic . 0.0322 0.0327 0.033 -2 +chr3 57908594 SLMAP CTTTTTTTTTCTTTGCC CTTTTTTTTCTTTGCC 42 0.1875 . . . . 0.1998 . intronic . 0.1907 0.2014 0.1827 -2 +chr3 57908707 SLMAP A G 1 0.000199681 2.207 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance 0.0001 nonsynonymous_SNV exonic T 0.0001 0.0001 6.66e-05 2 +chr3 180702510 DNAJC19 A G 1 0.00139776 . MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374 3-methylglutaconic_aciduria_type_V|not_specified Conflicting_interpretations_of_pathogenicity 0.0023 . intronic . 0.0012 0.0011 0.0022 0 +chr3 180704843 DNAJC19 TAATAAAATAAA TAATAAA 1 . . . . . . . intronic . . . . 4 +chr3 180705871 DNAJC19 C T 5 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 exonic\x3bexonic . 0.0044 0.0045 0.0026 8 +chr3 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 exonic\x3bexonic . 0.0044 0.0045 0.0026 4 +chr3 196771513 DLG1 G A 17 0.0251597 4.635 . . . 0.0535 nonsynonymous_SNV exonic T 0.0471 0.0510 0.0556 -2 +chr3 196771554 DLG1 T C 17 0.0253594 . . . . 0.0535 synonymous_SNV exonic . 0.0470 0.0517 0.0557 -2 +chr3 196778421 DLG1 A C 1 0.0115815 . . . . 0.0046 . intronic . 0.0031 0.0038 0.0021 -2 +chr3 196778438 DLG1 C T 76 0.264577 . . . . 0.2687 . intronic . 0.28 0.2717 0.2591 -2 +chr3 196792163 DLG1 C T 1 0.00419329 7.123 . . . 0.0247 nonsynonymous_SNV exonic T 0.0245 0.0250 0.0240 1 +chr3 196792663 DLG1 C A 2 0.000798722 6.053 . . . 0.0011 nonsynonymous_SNV exonic T 0.0014 0.0010 0.0011 3 +chr3 196807928 DLG1 A C 4 0.00559105 1.923 . . . 0.0109 nonsynonymous_SNV exonic T 0.0134 0.0119 0.0103 -2 +chr3 196808026 DLG1 A C 2 0.000199681 . . . . 0.0003 . intronic . . 0.0004 0.0003 2 +chr3 196817911 DLG1 AAGA AA 1 . . . . . . . intronic . . . . 4 +chr3 196842808 DLG1 C T 1 . 7.410 . . . 1.5e-05 nonsynonymous_SNV exonic T . 9.003e-06 . 7 +chr3 196865242 DLG1 C T 46 0.127995 4.417 . . . 0.1487 nonsynonymous_SNV exonic T 0.1473 0.1455 0.1379 -2 +chr3 196869570 DLG1 TTAAGAT TT 1 . . . . . . . intronic . . . . 4 +chr3 196869688 DLG1 A G 230 0.993211 . . . . 1.0000 . intronic . 0.9999 1.0000 1 -2 +chr3 196876600 DLG1 G A 37 0.0766773 . . . . 0.1784 . intronic . 0.1783 0.1725 0.1723 -2 +chr3 196921360 DLG1 T C 13 0.0145767 2.040 . . . 0.0470 nonsynonymous_SNV exonic T 0.0443 0.0453 0.0511 -2 +chr4 114120284 ANK2 C T 4 0.0253594 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign 0.0343 . intronic . 0.0293 0.0358 0.0413 -2 +chr4 114161619 ANK2 T C 1 0.00279553 . . . . 0.0110 . intronic . 0.0116 0.0122 0.0117 -2 +chr4 114161754 ANK2 A G 1 0.000199681 . MedGen:CN169374 not_specified Benign 0.0003 . intronic . 0.0003 0.0002 0.0003 2 +chr4 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 0 +chr4 114195737 ANK2 C T 1 . 7.219 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Uncertain_significance 2.999e-05 nonsynonymous_SNV exonic T . 6.288e-05 6.668e-05 7 +chr4 114208877 ANK2 C T 1 0.00339457 . MedGen:C1970119,OMIM:600919 Cardiac_arrhythmia,_ankyrin_B-related Benign 0.0011 . intronic . 0.0008 0.0005 0.0007 0 +chr4 114209651 ANK2 C T 2 0.000998403 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN517202 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_provided Conflicting_interpretations_of_pathogenicity 0.0046 . intronic . 0.0034 0.0041 0.0035 0 +chr4 114213551 ANK2 C T 3 0.00359425 . . . . 0.0183 . intronic . 0.0094 0.0125 0.0108 -2 +chr4 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 -2 +chr4 114213705 ANK2 C T 1 0.00499201 . . . . 0.0152 . intronic . 0.0122 0.0122 0.0101 -2 +chr4 114257201 ANK2 C T 22 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 -2 +chr4 114260492 ANK2 G T 22 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 -2 +chr4 114267117 ANK2 C T 1 . 5.639 MedGen:CN230736|MedGen:CN517202 Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0002 nonsynonymous_SNV exonic T 0.0005 0.0002 0.0004 3 +chr4 114269433 ANK2 A G 1 0.000998403 4.056 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1833154|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Congenital_long_QT_syndrome|Long_QT_syndrome_4|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic T 0.0002 0.0008 0.0005 0 +chr4 114269509 ANK2 G A 1 0.0960463 . . . . 0.0185 . intronic . 0.0213 0.0199 0.0182 -2 +chr4 114274908 ANK2 C A 1 . 2.044 MedGen:CN517202 not_provided Uncertain_significance 1.516e-05 nonsynonymous_SNV exonic T . 9.104e-06 . 4 +chr4 114275014 ANK2 C G 1 0.000199681 2.646 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 7.558e-05 nonsynonymous_SNV exonic T . 5.422e-05 0 2 +chr4 114275243 ANK2 C T 31 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 -2 +chr4 114275531 ANK2 C T 1 0.000199681 . . . . 4.519e-05 synonymous_SNV exonic . . 2.704e-05 . 2 +chr4 114275600 ANK2 C T 1 . . . . . 3e-05 synonymous_SNV exonic . . 2.695e-05 . 4 +chr4 114275942 ANK2 C G 6 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 -2 +chr4 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 0 +chr4 114276422 ANK2 C G 4 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 +chr4 114276686 ANK2 T C 1 0.000199681 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Likely_benign 0.0009 synonymous_SNV exonic . 0.0003 0.0010 0.0010 0 +chr4 114276880 ANK2 TTCAA CTCAG,TTCAG 1 . . . . . . frameshift_deletion exonic . . . . 4 +chr4 114276884 ANK2 A G 11 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 -2 +chr4 114276894 ANK2 G T 1 . -2.700 . . . 1.499e-05 nonsynonymous_SNV exonic T . 1.801e-05 . 4 +chr4 114278277 ANK2 C T 13 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 -2 +chr4 114278820 ANK2 G A 1 0.000399361 0.219 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Likely_benign 0.0006 nonsynonymous_SNV exonic T 0.0008 0.0008 0.0007 0 +chr4 114279294 ANK2 A G 1 0.000199681 -1.082 . . . 1.503e-05 nonsynonymous_SNV exonic T . 9.003e-06 6.66e-05 2 +chr4 114279422 ANK2 A G 36 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 -2 +chr4 114279628 ANK2 T C 7 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 1 +chr4 114279674 ANK2 C A 6 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 1 +chr4 114279918 ANK2 A T 1 . -0.317 . . . 1.499e-05 nonsynonymous_SNV exonic T 0.0001 8.992e-06 . 4 +chr4 114280145 ANK2 G A 5 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 8 +chr4 114280329 ANK2 C T 1 . . . . . 3e-05 synonymous_SNV exonic . . 9e-06 . 4 +chr4 114280434 ANK2 A T 1 . 3.423 . . . 3.014e-05 nonsynonymous_SNV exonic D . 3.606e-05 . 7 +chr4 114282025 ANK2 T C 1 . . . . . 1.603e-05 synonymous_SNV exonic . 0.0002 2.701e-05 . 2 +chr4 114284645 ANK2 C T 36 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 -2 +chr4 114286207 ANK2 T A 5 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 8 +chr4 114294308 ANK2 T C 44 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 -2 +chr4 114302547 ANK2 T C 1 0.000199681 . . . . . . intronic . . . . 2 +chr4 114302634 ANK2 C T 5 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 -2 +chr4 120072187 MYOZ2 A G 8 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 +chr4 120079159 MYOZ2 A G 131 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 -2 +chr4 120085448 MYOZ2 A G 11 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 +chr4 120107098 MYOZ2 GTTTTTTTTTTA GTTTTTTTTTTTA 50 0.240216 . MedGen:CN169374 not_specified Benign 0.2616 . intronic . 0.1878 0.2415 0.2039 -2 +chr4 186064502 SLC25A4 G A 7 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 -2 +chr4 186064670 SLC25A4 G T 1 . . . . . . . intronic . . . . 4 +chr4 186066020 SLC25A4 A G 1 . 6.039 . . . . nonsynonymous_SNV exonic D . . . 10 +chr4 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 -2 +chr4 186066953 SLC25A4 C A 2 . 5.420 . . . . nonsynonymous_SNV exonic T . . . 7 +chr4 186066962 SLC25A4 TGC TC 2 . . . . . . frameshift_deletion exonic . . . . 4 +chr4 186066991 SLC25A4 TGG TG 2 . . . . . . frameshift_deletion exonic . . . . 4 +chr4 186423436 PDLIM3 G A 1 0.00858626 . MedGen:CN169374 not_specified Benign 0.0131 . UTR3 . 0.0129 0.0120 0.0125 -2 +chr4 186423612 PDLIM3 T G 2 . 6.529 . . . . nonsynonymous_SNV exonic D . . . 10 +chr4 186423636 PDLIM3 CG CA 2 . . . . . . frameshift_deletion exonic . . . . 4 +chr4 186423637 PDLIM3 GCTGT ACTGT 110 0.659545 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.8484 synonymous_SNV exonic . 0.8535 0.8525 0.8604 -2 +chr4 186423655 PDLIM3 G A 12 0.139177 . MedGen:CN169374 not_specified Benign 0.1615 . intronic . 0.1602 0.1637 0.1652 -2 +chr4 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 6 +chr4 186427735 PDLIM3 G A 3 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 -10 +chr4 186444600 PDLIM3 C T 1 . 0.989 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 Conflicting_interpretations_of_pathogenicity 0.0003 synonymous_SNV exonic . 0.0002 0.0004 0.0002 6 +chr4 186446224 PDLIM3 C T 4 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:CN169374 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0010 synonymous_SNV exonic . 0.0006 0.0005 . 0 +chr4 186446257 PDLIM3 G A 1 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 -10 +chr4 186456614 PDLIM3 TCTA TCTG,GCTA 1 . . . . . . . UTR5 . . . . 4 +chr4 186456615 PDLIM3 CTA CTG 4 . . . . . . . UTR5\x3bUTR5\x3bUTR5 . . . . 8 +chr4 186456616 PDLIM3 TA TG 2 . . . . . . . UTR5\x3bUTR5\x3bUTR5 . . . . 4 +chr4 186456617 PDLIM3 A G 202 0.948283 . . . . 0.9997 . UTR5 . 0.9993 0.9996 0.9997 -2 +chr5 218441 SDHA T G 1 . . . . . . . UTR5 . . . . 4 +chr5 218466 SDHA CA CG 1 . . . . . . . UTR5 . . . . 4 +chr5 218487 SDHA G A 1 0.00399361 -0.144 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified|not_provided Benign/Likely_benign 0.0001 nonsynonymous_SNV exonic T . 6.881e-05 0 0 +chr5 218520 SDHA C T 2 . 2.284 . . . . nonsynonymous_SNV exonic T . . . 4 +chr5 218551 SDHA A C 2 . . . . . . . intronic . . . . 4 +chr5 218576 SDHA A G,C 2 . . . . . . . intronic . . . . 4 +chr5 218589 SDHA A C 2 . . . . . . . intronic . . . . 4 +chr5 218598 SDHA GT AT,AG 2 . . . . . . . intronic . . . . 4 +chr5 223646 SDHA A T 14 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 -2 +chr5 224633 SDHA A G 18 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 -2 +chr5 224640 SDHA A G 1 . . . . . 1.501e-05 . intronic . . 8.983e-06 . 4 +chr5 225697 SDHA G C 3 0.00359425 . MedGen:CN169374 not_specified Benign 0.0063 . intronic . 0.0065 0.0058 0.0057 4 +chr5 226160 SDHA A C 27 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 -2 +chr5 228278 SDHA CTTTTTTTTTC CTTTTTTTTC 2 0.234625 . MedGen:CN169374 not_specified Benign 0.1271 . intronic . 0.1308 0.1225 0.1127 -2 +chr5 228362 SDHA T C 27 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 -2 +chr5 230980 SDHA A G 193 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 -2 +chr5 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 0 +chr5 231111 SDHA T C 157 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 -2 +chr5 231143 SDHA T C 27 0.247404 . . . . 0.1276 . intronic . 0.1356 0.1278 0.1139 -2 +chr5 233665 SDHA C T 4 0.00399361 . 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 0.0066 synonymous_SNV exonic . 0.0074 0.0061 0.0057 4 +chr5 233698 SDHA G A 3 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 +chr5 233734 SDHA C G 27 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 -2 +chr5 235364 SDHA C T 4 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 -2 +chr5 236587 SDHA G T 5 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 -2 +chr5 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 0 +chr5 251178 SDHA G A 1 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 0 +chr5 251199 SDHA C T 1 . . MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165 Mitochondrial_complex_II_deficiency|Paragangliomas_5 Likely_benign 2.997e-05 synonymous_SNV exonic . . 1.796e-05 0.0001 4 +chr5 251469 SDHA G A 2 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 -2 +chr5 251541 SDHA A G 11 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 -2 +chr5 251590 SDHA C T 1 . . . . . . . intronic . . . 0 4 +chr5 254599 SDHA A T 2 . 0.503 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 0.1268 nonsynonymous_SNV exonic T 0.0448 0.1224 0.1118 -2 +chr5 254636 SDHA C T 14 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 -2 +chr5 256470 SDHA G A 1 . 5.629 MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165 Mitochondrial_complex_II_deficiency|Paragangliomas_5 Uncertain_significance 0 nonsynonymous_SNV exonic D . 0 . 10 +chr5 256472 SDHA G A 27 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 -2 +chr5 256509 SDHA G A 24 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 -2 +chr5 256519 SDHA C G 1 0.000998403 2.395 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 Conflicting_interpretations_of_pathogenicity 0.0001 nonsynonymous_SNV exonic T 0.0001 0.0002 0.0003 0 +chr5 37294473 NUP155 T C 82 0.277157 . . . . 0.3075 synonymous_SNV exonic . 0.2929 0.2896 0.2895 -2 +chr5 37304962 NUP155 A T 1 . . . . . 1.508e-05 . intronic . . 8.98e-06 . 4 +chr5 37307389 NUP155 T C 8 0.0589058 . . . . 0.0429 . intronic . 0.0406 0.0425 0.0498 -2 +chr5 37309255 NUP155 T C 3 . 2.004 . . . 6.03e-05 nonsynonymous_SNV exonic T . 4.482e-05 6.659e-05 8 +chr5 37309280 NUP155 T G 1 . 3.784 . . . . nonsynonymous_SNV exonic T . . . 4 +chr5 37309371 NUP155 TAGAAGAGG TAGAGG 81 0.269169 . . . . 0.3044 . intronic . 0.2911 0.2847 0.2869 -2 +chr5 37318089 NUP155 C G 1 . 5.710 . . . . . splicing . . . . 12 +chr5 37333592 NUP155 C T 1 0.000399361 . . . . 0.0018 synonymous_SNV exonic . 0.0006 0.0014 0.0053 0 +chr5 37333727 NUP155 A G 44 0.355032 . . . . 0.1704 synonymous_SNV exonic . 0.1599 0.1620 0.1693 -2 +chr5 37337900 NUP155 G A 1 0.000599042 . . . . 0.0027 . intronic . 0.0027 0.0032 0.0023 0 +chr5 37341352 NUP155 T C 56 0.188698 . . . . 0.2136 . intronic . 0.2115 0.2132 0.2138 -2 +chr5 37342755 NUP155 G C 1 . . . . . 0.0002 . intronic . 0.0001 0.0002 0.0003 2 +chr5 37348573 NUP155 C A 1 0.0127796 . . . . 0.0001 . intronic . 0.0002 0.0001 6.668e-05 -2 +chr5 37349359 NUP155 ACAAAAAAAAAAAAGAGAAAAAAGTAAACC AAAAAAAAAAAAAAGAGAAAAAAGTAAACC,ACAAAAAAAAAAAGAGAAAAAAGTAAACC 1 . . . . . 0.3432 . intronic\x3bintronic . 0.1114 0.3448 0.0071 -2 +chr5 37349360 NUP155 CAAAAAAAAAAAAGAGAAAAAAGTAAACC AAAAAAAAAAAAAGAGAAAAAAGTAAACC,CAAAAAAAAAAAGAGAAAAAAGTAAACC 1 . . . . . 0.3432 . intronic\x3bintronic . 0.1114 0.3448 0.0071 -2 +chr5 37350390 NUP155 C A 43 0.33766 . . . . 0.1666 . intronic . 0.1597 0.1619 0.1696 -2 +chr5 37352816 NUP155 C T 1 0.000798722 . . . . 9.408e-05 . intronic . 0.0002 0.0002 0.0001 0 +chr5 37352829 NUP155 G A 2 0.0656949 . . . . 0.0038 . intronic . 0.0041 0.0043 0.0034 -2 +chr5 37364443 NUP155 C T 230 0.969649 . . . . 1.0000 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.9999 0.9999 0.9999 -2 +chr5 37364443 NUP155 C T 40 0.969649 . . . . 1.0000 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.9999 0.9999 0.9999 -2 +chr5 37371059 NUP155 G A 1 0.0071885 . . . . 0.0105 synonymous_SNV exonic . 0.0085 0.0087 0.0098 -2 +chr5 155771510 SGCD G C 1 0.00139776 3.009 MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0003 nonsynonymous_SNV exonic T . 0.0002 . -4 +chr5 155771533 SGCD C G 1 . 0.479 . . . . nonsynonymous_SNV exonic T . . . 4 +chr5 155771579 SGCD T C 106 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 -10 +chr5 155771587 SGCD G A 1 . 7.060 MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2F|not_specified Uncertain_significance 0.0003 nonsynonymous_SNV exonic D 0.0002 0.0003 6.668e-05 8 +chr5 155935708 SGCD G A 12 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 +chr5 155935720 SGCD T C 1 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 +chr5 156016201 SGCD T A 1 0.0509185 . MedGen:CN169374 not_specified Benign 0.0041 . intronic . 0.0022 0.0030 0.0023 -2 +chr5 156016213 SGCD A C 1 . . . . . . . intronic . . . . 4 +chr5 156016214 SGCD TG TT 1 . . . . . . . intronic . . . . 4 +chr5 172660004 na C T 9 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 +chr5 172660508 na CAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG CAAAAAAAAAAAAAAAAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAAAAATAAAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAAAATAAAAAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAAAATAAATAAATAAATAAAAAAATAAAAATAAAACCAGGTG,TAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,AAAAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG,CAAAAAAAAAAAATAAATAAAAAAATAAAAAAATAAAAATAAAACCAGGTG 9 . . . . . . . intronic . . . . 12 +chr5 172660516 na A T 1 0.000199681 . . . . . . intronic . . 2.489e-05 . 2 +chr5 172660519 na AA TA,ATA 1 . . . . . 0.0011 . intronic . 0.0059 0.0011 0.0007 0 +chr5 172660521 na AATAAAT TAAAAAT,AAAAAAA 1 . . . . . . . intronic\x3bintronic . . . . 4 +chr5 172660522 na ATAAATA AAAATA,AAAAATA,AATAAA,ATAAA 1 . . . . . . . intronic . . . . 4 +chr5 172660523 na TAAAT AAAAT,AAAAA,TAAAA 1 . . . . . 0.0044 . intronic\x3bintronic\x3bintronic\x3bintronic . 0.4774 0.0140 0.0033 -2 +chr5 172660524 na AAAT AAAA 3 . . . . . 0.0044 . intronic\x3bintronic\x3bintronic\x3bintronic . 0.4774 0.0140 0.0033 -2 +chr5 172660525 na AAT AAA,ATA 3 . . . . . . . intronic . . . . 8 +chr5 172660526 na AT AA 9 . . . . . 0.0044 . intronic\x3bintronic\x3bintronic\x3bintronic . 0.4774 0.0140 0.0033 -2 +chr5 172660527 na T A 10 0.403355 . . . . 0.3725 . intronic\x3bintronic . . 0.3637 0.4326 -2 +chr5 172660531 na A T 1 . . . . . 0.0030 . intronic\x3bintronic . . 0.0028 0.0030 0 +chr5 172660535 na T A 4 . . . . . 0.0852 . intronic . . 0.1059 0.0980 -2 +chr5 172660573 na G T 1 0.000199681 . . . . . . intronic . . . 0.0003 2 +chr5 172661831 na A G 1 . 1.311 . . . . nonsynonymous_SNV exonic D . . . 7 +chr5 172662014 na G A 1 0.0101837 6.462 .|Human_Phenotype_Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED_CT:86299006|Human_Phenotype_Ontology:HP:0011611,MedGen:C0152419,Orphanet:ORPHA2299|MedGen:C0152021,SNOMED_CT:13213009|MedGen:C2673630,OMIM:225250|MedGen:C3276096,OMIM:108900|MedGen:C3280795,OMIM:614435|MedGen:CN169374|MedGen:CN230736 TRUNCUS_ARTERIOSUS|Tetralogy_of_Fallot|Interrupted_aortic_arch|Congenital_heart_disease|Hypothyroidism,_congenital,_nongoitrous,_5|Atrial_septal_defect_7_with_or_without_atrioventricular_conduction_defects|Hypoplastic_left_heart_syndrome_2|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic T 0.0009 0.0010 0.0010 1 +chr5 172662024 na T C 56 0.535743 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3027 synonymous_SNV exonic . 0.2813 0.2975 0.2926 -2 +chr6 7542148 DSP CAT CAAT,TAT 56 . . . . . . . UTR5 . . . . 12 +chr6 7542253 DSP G A 5 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 2 +chr6 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 -2 +chr6 7556063 DSP C T 11 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 -6 +chr6 7559560 DSP A C 1 . 5.152 . . . . nonsynonymous_SNV exonic T . . . 7 +chr6 7563983 DSP T G 230 1 . MedGen:CN169374 not_specified Likely_benign 0.9985 synonymous_SNV exonic . 0.9981 0.9986 0.9992 -2 +chr6 7564041 DSP G A 1 0.000199681 . . . . 0.0021 . intronic . 0.0009 0.0019 0.0025 0 +chr6 7565651 DSP G C 1 . . MedGen:CN169374 not_specified Likely_benign . synonymous_SNV exonic . . . . 4 +chr6 7565727 DSP A T 14 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 8 +chr6 7566616 DSP A G 1 . 5.481 MedGen:CN517202 not_provided Uncertain_significance 4.513e-05 nonsynonymous_SNV exonic D 0.0001 2.69e-05 . 10 +chr6 7567609 DSP C T 2 . 7.332 . . . 1.498e-05 nonsynonymous_SNV exonic D . 2.691e-05 . 10 +chr6 7569487 DSP G A 1 0.00239617 . 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 0.0010 synonymous_SNV exonic . 0.0014 0.0013 0.0009 -4 +chr6 7569522 DSP TGG TGGG 1 . . . . . . frameshift_insertion exonic . . . . 4 +chr6 7569587 DSP G T 1 . . MedGen:CN169374 not_specified Likely_benign 0.0006 . intronic . 0.0005 0.0006 0.0006 0 +chr6 7570797 DSP G A 1 . 5.251 . . . . . splicing . . . . 12 +chr6 7571640 DSP T C 1 . 5.055 . . . . nonsynonymous_SNV exonic T . . . 7 +chr6 7572262 DSP A G 191 0.774361 . MedGen:CN169374 not_specified Benign 0.7720 synonymous_SNV exonic . 0.7795 0.7704 0.7585 -2 +chr6 7574978 DSP ACTGTC AC 1 . . . . . . frameshift_deletion exonic . . . . 4 +chr6 7575506 DSP CTTTTTTTTTTTC CTTTTTTTTTC 1 . . . . . 0.0018 . intronic . 0.0084 0.0002 7.113e-05 0 +chr6 7576527 DSP G A 197 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 -2 +chr6 7576580 DSP A G 1 . 4.905 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|not_provided Uncertain_significance 0.0001 nonsynonymous_SNV exonic T 0.0001 6.275e-05 6.661e-05 4 +chr6 7576619 DSP G A 1 . 7.211 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 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 0.0015 nonsynonymous_SNV exonic T 0.0015 0.0011 0.0005 7 +chr6 7576670 DSP G A 1 0.000199681 4.631 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 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0001 6 +chr6 7577260 DSP C T 42 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 -2 +chr6 7578819 DSP TAGCG GAGCA 197 . . . . . . . intronic . . . . 12 +chr6 7580197 DSP C A 1 . 0.576 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 4.548e-05 nonsynonymous_SNV exonic T . 2.698e-05 . 4 +chr6 7580243 DSP G C 1 . 3.491 . . . . nonsynonymous_SNV exonic D . . . 7 +chr6 7580386 DSP G A 4 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 2 +chr6 7580806 DSP G A 1 . . 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 0.0030 synonymous_SNV exonic . 0.0022 0.0035 0.0025 -4 +chr6 7580958 DSP A G 7 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 -2 +chr6 7581032 DSP C T 3 0.00359425 5.054 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0520806|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|Sudden_unexplained_death|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 Benign/Likely_benign 0.0142 nonsynonymous_SNV exonic T 0.0143 0.0152 0.0133 -3 +chr6 7581196 DSP G A 4 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 -6 +chr6 7581636 DSP G A 23 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 -2 +chr6 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 4 +chr6 7582993 DSP A T 1 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 5 +chr6 7583089 DSP A G 1 . 1.310 . . . 0 nonsynonymous_SNV exonic T . 0 . 4 +chr6 7583703 DSP G A 2 0.00259585 6.909 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 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 0.0060 nonsynonymous_SNV exonic T 0.0045 0.0057 0.0043 7 +chr6 7583885 DSP T C 1 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 -6 +chr6 7584260 DSP G A 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr6 7584617 DSP C T 110 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 -2 +chr6 7585625 DSP A G 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr6 7585670 DSP C A 20 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 -6 +chr6 7585796 DSP C G 1 0.000798722 . 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 0.0008 synonymous_SNV exonic . 0.0006 0.0005 0.0005 -4 +chr6 7585967 DSP G C 179 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 -10 +chr6 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 -6 +chr6 26087736 HFE G A 1 0.000798722 5.610 MedGen:C0392514,SNOMED_CT:35400008 Hereditary_hemochromatosis Uncertain_significance 0.0005 nonsynonymous_SNV exonic T 0.0003 0.0006 0.0004 3 +chr6 26091179 HFE C G 28 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 +chr6 26091179 HFE C G 8 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 +chr6 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 exonic D 0.0151 0.0155 0.0137 1 +chr6 26091336 HFE T C 78 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 +chr6 26091336 HFE T C 15 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 +chr6 26093049 HFE C T 1 . . . . . . synonymous_SNV exonic . . 1.79e-05 0 4 +chr6 26093141 HFE G A 2 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 exonic D 0.0641 0.0573 0.0593 4 +chr6 26093474 HFE A G 1 0.000599042 . . . . 0.0011 . intronic . 0.0003 0.0011 0.0011 0 +chr6 26094367 HFE G A 127 0.590655 . . . . 0.4562 . intronic . 0.4708 0.4553 0.4539 -2 +chr6 26094383 HFE T G 1 0.000199681 . . . . 0.0006 . intronic . 0.0003 0.0005 0.0024 0 +chr6 76540112 MYO6 G A 1 0.0159744 . . . . 0.0028 . intronic . 0.0005 0.0014 0.0022 -2 +chr6 76545684 MYO6 T C 28 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 -2 +chr6 76554593 MYO6 G A 229 0.997804 . . . . 0.9853 . intronic . 0.9868 0.9856 0.9873 -2 +chr6 76558260 MYO6 ATTTTTTTAAG ATTTTTTTTAAG 16 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 -2 +chr6 76570815 MYO6 ATGT AT 2 . . . . . . . intronic . . . . 4 +chr6 76572422 MYO6 G A 1 0.00439297 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 2.998e-05 synonymous_SNV exonic . 0.0002 6.271e-05 0.0002 0 +chr6 76576264 MYO6 G A 1 . 2.759 . . . . nonsynonymous_SNV exonic T . . . 4 +chr6 76576290 MYO6 C T 13 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 -2 +chr6 76589518 MYO6 T C 2 0.000798722 . . . . 0.0018 . intronic . 0.0013 0.0017 0.0011 0 +chr6 76596587 MYO6 C T 1 0.00139776 3.765 MedGen:CN169374 not_specified Benign/Likely_benign 0.0040 nonsynonymous_SNV exonic D 0.0062 0.0046 0.0046 3 +chr6 76596728 MYO6 C T,A 1 . . . . . . . intronic . . . . 4 +chr6 76596731 MYO6 A C 2 0.0389377 . MedGen:CN169374 not_specified Benign 0.0056 . intronic . 0.0020 0.0030 0.0059 -2 +chr6 76602282 MYO6 G A 1 0.00359425 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0074 synonymous_SNV exonic . 0.0084 0.0081 0.0072 0 +chr6 76608105 MYO6 A G 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr6 76608128 MYO6 G C 1 . 2.861 Human_Phenotype_Ontology:HP:0000789,MedGen:C0021359|Human_Phenotype_Ontology:HP:0003251,MedGen:C0021364,Orphanet:ORPHA98048,SNOMED_CT:2904007|MedGen:CN169374 Infertility|Male_infertility|not_specified Uncertain_significance 0.0003 nonsynonymous_SNV exonic T 0.0001 0.0004 0.0005 2 +chr6 76617311 MYO6 A G 1 . . . . . 4.561e-05 . intronic . . 4.481e-05 . 4 +chr6 76624538 MYO6 G A 10 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 4 +chr6 76624741 MYO6 C T 72 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 -2 +chr6 112435264 LAMA4 T G 60 0.240016 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2679 . intronic . 0.2706 0.2662 0.2602 -10 +chr6 112435273 LAMA4 A C 60 0.240016 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2678 . intronic . 0.2716 0.2663 0.2608 -10 +chr6 112435335 LAMA4 G A 1 0.000599042 7.024 MedGen:CN169374 not_specified Uncertain_significance 0.0002 nonsynonymous_SNV exonic D . 0.0002 . 6 +chr6 112435912 LAMA4 A T 62 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 -10 +chr6 112440464 LAMA4 G A 1 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 -10 +chr6 112441510 LAMA4 T C 1 . . . . . 1.501e-05 synonymous_SNV exonic . 0.0001 8.976e-06 . 4 +chr6 112441690 LAMA4 G C 1 . . . . . . . intronic . . . . 4 +chr6 112457383 LAMA4 G C 58 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 -10 +chr6 112457390 LAMA4 C T 157 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 -10 +chr6 112457418 LAMA4 T G 1 . . . . . 3.001e-05 synonymous_SNV exonic . . 1.797e-05 . 4 +chr6 112457428 LAMA4 T C 1 . -0.640 MedGen:CN169374 not_specified Likely_benign 0.0001 nonsynonymous_SNV exonic T . 7.19e-05 . 4 +chr6 112457471 LAMA4 G A 157 0.840455 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.7030 . intronic . 0.6959 0.7021 0.7197 -10 +chr6 112460359 LAMA4 G A 1 . 4.673 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Uncertain_significance 1.498e-05 nonsynonymous_SNV exonic T . 1.795e-05 . 4 +chr6 112460365 LAMA4 C T 3 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 -4 +chr6 112463362 LAMA4 C T 1 . 0.992 . . . 0 nonsynonymous_SNV exonic T . 2.688e-05 6.663e-05 4 +chr6 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 6 +chr6 112466073 LAMA4 G A 1 . 12.165 . . . 0 stopgain exonic . . 0 . 12 +chr6 112469404 LAMA4 C A 1 . 6.411 . . . 2.997e-05 nonsynonymous_SNV exonic T 0.0001 1.793e-05 0 7 +chr6 112471688 LAMA4 G C 60 0.3127 . . . . 0.2714 . intronic . 0.2797 0.2705 0.2618 -2 +chr6 112476767 LAMA4 A G 1 . . MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0014 synonymous_SNV exonic . 0.0009 0.0014 0.0020 4 +chr6 112480041 LAMA4 A G 13 0.091254 . MedGen:CN169374 not_specified Benign 0.0987 synonymous_SNV exonic . 0.0881 0.0964 0.1301 -2 +chr6 112493872 LAMA4 A G 152 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 -10 +chr6 112496511 LAMA4 C A 5 0.08127 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0145 . intronic . 0.0110 0.0128 0.0112 -10 +chr6 112496690 LAMA4 G C 1 0.0315495 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0004 . intronic . 0.0005 0.0006 0.0004 -10 +chr6 112499338 LAMA4 T C 1 . 3.552 . . . . nonsynonymous_SNV exonic T . . . 4 +chr6 112506519 LAMA4 C T 1 . 2.493 MedGen:CN169374 not_specified Likely_benign 0.0002 nonsynonymous_SNV exonic T . 5.376e-05 6.667e-05 2 +chr6 112506583 LAMA4 G T 181 0.900559 . . . . 0.7137 . intronic . 0.7115 0.7083 0.7025 -2 +chr6 112508694 LAMA4 A G 4 0.000199681 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0038 synonymous_SNV exonic . 0.0036 0.0039 0.0039 -4 +chr6 112508755 LAMA4 G C 1 0.000399361 1.056 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Conflicting_interpretations_of_pathogenicity 0.0007 nonsynonymous_SNV exonic T 0.0003 0.0006 0.0005 4 +chr6 112508769 LAMA4 TG GT 230 . . MedGen:CN169374 not_specified Benign . nonframeshift_substitution exonic . . . . 12 +chr6 112512903 LAMA4 CCG CCA 2 . . . . . . frameshift_deletion exonic . . . . 4 +chr6 112512905 LAMA4 G A,T 2 . . . . . . synonymous_SNV exonic . . . . 4 +chr6 112522852 LAMA4 G A 25 0.0309505 7.272 MedGen:CN169374 not_specified Benign 0.0609 nonsynonymous_SNV exonic T 0.0649 0.0648 0.0627 1 +chr6 112522893 LAMA4 A C 4 0.0207668 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0140 . intronic . 0.0103 0.0122 0.0107 -10 +chr6 112537682 LAMA4 A G 12 0.0121805 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0252 . intronic . 0.0195 0.0231 0.0220 -10 +chr6 112575014 LAMA4 A G 1 0.00599042 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0166 synonymous_SNV exonic . 0.0143 0.0158 0.0229 -10 +chr6 112575162 LAMA4 G A 1 . 0.431 . . . 6.334e-05 nonsynonymous_SNV exonic T 0.0001 4.517e-05 . 4 +chr6 121768398 GJA1 C T 1 . . . . . 0 synonymous_SNV exonic . . 0 . 4 +chr6 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 +chr6 121768751 GJA1 C T 5 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 -2 +chr6 121769144 GJA1 TAC TAAC 9 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 +chr6 123539731 TRDN G A 1 . . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Uncertain_significance 0.0008 . UTR3 . 0.0010 0.0006 0.0005 0 +chr6 123539904 TRDN C T 108 0.375998 . MedGen:CN169374 not_specified Benign 0.5013 . intronic . 0.4593 0.4754 0.4510 -2 +chr6 123542581 TRDN G A 1 0.0061901 . . . . . . intronic . . . 0.0002 0 +chr6 123545159 TRDN GAAAAAAAAAAAAAAGACAGACAAAAACCT GAAAAAAAAAAAAAGACAGACAAAAACCT,TAAAAAAAAAAAAAAGACAGACAAAAACCT,GAAAAAAAAAAAAGACAGACAAAAACCT 1 . . . . . . . intronic . . . 0.0025 4 +chr6 123580844 TRDN A T 1 . . . . . . . intronic . . 8.066e-05 . 4 +chr6 123581789 TRDN GAAAAAAAAAAAAAAAG AAAAAAAAAAAAAAAAG,GAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAG 1 . . . . . . . intronic . . . . 4 +chr6 123586502 TRDN A C 1 . . . . . . . intronic . . . . 4 +chr6 123594181 TRDN T G 1 . . . . . . . intronic . . . . 4 +chr6 123594217 TRDN G A 3 0.00219649 . . . . . . intronic . . . 0.0056 4 +chr6 123594425 TRDN C T 1 0.00299521 . . . . . . intronic . . . 0.0024 0 +chr6 123594508 TRDN GCTAAAATAAATAAATAAC GCTAAAAATAAATAAATAAC,TCTAAAATAAATAAATAAC 1 . -0.279 . . . . nonsynonymous_SNV exonic T . . . 4 +chr6 123594510 TRDN TAAAATAAATAAATAAC TAAAAATAAATAAATAAC 46 0.262979 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.2040 . splicing\x3bsplicing . 0.1584 0.1639 0.1900 -2 +chr6 123595869 TRDN A C 48 0.263179 . . . . . . intronic . 0.1708 . 0.1901 -2 +chr6 123599505 TRDN A C 4 0.00279553 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0159 . intronic . 0.0092 0.0108 0.0081 -2 +chr6 123600171 TRDN G A 2 0.0708866 . . . . 0.0002 . intronic . 0.0007 0.0004 0.0007 -2 +chr6 123653127 TRDN A G 2 0.000798722 . . . . . . intronic . 0.0047 . 0.0052 0 +chr6 123658776 TRDN G T 1 0.113618 1.948 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0009 nonsynonymous_SNV exonic T 0.0008 0.0015 0.0013 -2 +chr6 123658825 TRDN G T 50 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 +chr6 123673628 TRDN C T 7 0.00898562 . . . . 0.0404 . UTR3 . 0.0399 0.0417 0.0465 -2 +chr6 123687241 TRDN C G 2 0.11881 . . . . 0.0007 . intronic . 0.0011 0.0010 0.0010 -2 +chr6 123687265 TRDN T C 1 . . . . . 6.65e-05 . intronic . . 4.507e-05 0 4 +chr6 123687288 TRDN A C 216 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 -2 +chr6 123687403 TRDN A G 1 . . . . . . . intronic . . . . 4 +chr6 123696766 TRDN G T 31 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 +chr6 123698790 TRDN TGT TT 2 0.000599042 . . . . . . intronic . 0.0001 . 0.0003 0 +chr6 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 exonic T 0.1454 0.1525 0.1686 -2 +chr6 123699042 TRDN T C 83 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 +chr6 123702464 TRDN T A 1 . . . . . . . intronic . . . 6.708e-05 4 +chr6 123702499 TRDN G A 78 0.476238 . MedGen:CN169374 not_specified Benign 0.3708 . intronic . 0.3270 0.3220 0.3635 -2 +chr6 123702599 TRDN A G 2 . . . . . . . intronic . . . . 4 +chr6 123714764 TRDN C T 11 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 +chr6 123833454 TRDN CCAGTG CCACTG 4 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\x3bnonsynonymous_SNV exonic\x3bexonic T 0.8615 0.8470 0.8672 -2 +chr6 123833456 TRDN AG AC 6 . . . . . . frameshift_deletion exonic . . . . 12 +chr6 123833457 TRDN G C 177 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\x3bnonsynonymous_SNV exonic\x3bexonic T 0.8615 0.8470 0.8672 -2 +chr6 123851610 TRDN G A 135 0.497404 . . . . 0.6181 . intronic . . 0.6339 0.6409 -2 +chr6 123868506 TRDN C T 6 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 -2 +chr6 123869607 TRDN G C 116 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 -2 +chr6 123869769 TRDN TAAAAAAAAAAAAAAAGAAAAAGTTTG TAAAAAAAAAAAAAGAAAAAGTTTG,TAAAAAAAAAAAAGAAAAAGTTTG,TAAAAAAAAAAAAAAGAAAAAGTTTG,TAAAAAAAAAAAAAAAAAAAAATTTTT 116 . . . . . . . intronic . . . . 12 +chr6 129371106 LAMA2 C T 35 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 +chr6 129381026 LAMA2 C A 222 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 +chr6 129419457 LAMA2 T G 1 . -0.699 . . . . nonsynonymous_SNV exonic T . . . 4 +chr6 129470136 LAMA2 G A 1 0.000199681 6.036 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 0.0015 nonsynonymous_SNV exonic T 0.0016 0.0015 0.0015 3 +chr6 129511373 LAMA2 T C 7 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 +chr6 129513837 LAMA2 A G 1 0.000399361 2.056 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Conflicting_interpretations_of_pathogenicity 0.0026 nonsynonymous_SNV exonic T 0.0036 0.0028 0.0026 0 +chr6 129513850 LAMA2 T A 2 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 3 +chr6 129571272 LAMA2 G A 5 0.00958466 6.614 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign 0.0172 nonsynonymous_SNV exonic T 0.0206 0.0180 0.0169 1 +chr6 129571330 LAMA2 G A 31 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 -2 +chr6 129601231 LAMA2 C T 2 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 3 +chr6 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 -2 +chr6 129612808 LAMA2 A G 58 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 +chr6 129612840 LAMA2 A G 1 . 2.039 MedGen:CN169374 not_specified Uncertain_significance 6.028e-05 nonsynonymous_SNV exonic T 0.0002 8.057e-05 . 2 +chr6 129634255 LAMA2 G A 41 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 +chr6 129635800 LAMA2 G A 10 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 -2 +chr6 129636606 LAMA2 T G 5 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 8 +chr6 129636647 LAMA2 T C 1 . . MedGen:CN169374 not_specified Likely_benign 0.0010 synonymous_SNV exonic . 0.0005 0.0008 0.0005 0 +chr6 129636948 LAMA2 C T 1 . . . . . 3.001e-05 synonymous_SNV exonic . . 2.687e-05 6.667e-05 4 +chr6 129663463 LAMA2 ACTTCTTC ACTTC 1 . . . . . . . intronic . . . . 4 +chr6 129670438 LAMA2 T A 2 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 +chr6 129670476 LAMA2 C T 2 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 +chr6 129670548 LAMA2 C T 15 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 +chr6 129674296 LAMA2 T C 1 . . . . . . . intronic . . . . 4 +chr6 129674398 LAMA2 C T 1 . 4.629 . . . . nonsynonymous_SNV exonic T . . 6.676e-05 4 +chr6 129687396 LAMA2 G A 6 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 -2 +chr6 129691132 LAMA2 C G 15 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 +chr6 129704290 LAMA2 C T 1 . . . . . 3.062e-05 synonymous_SNV exonic . . 4.515e-05 0 4 +chr6 129704357 LAMA2 G T 1 . 12.150 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008 Merosin_deficient_congenital_muscular_dystrophy Pathogenic . stopgain exonic . . . . 12 +chr6 129712706 LAMA2 G C 1 . 2.070 . . . . nonsynonymous_SNV exonic T . 0 . 4 +chr6 129722389 LAMA2 A G 114 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 +chr6 129722425 LAMA2 G A 114 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 +chr6 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 -2 +chr6 129725008 LAMA2 A G 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 0.0001 synonymous_SNV exonic . 0.0001 0.0002 . 2 +chr6 129725073 LAMA2 C G 1 . 7.032 . . . . nonsynonymous_SNV exonic T . . . 7 +chr6 129762112 LAMA2 G A 33 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 +chr6 129766983 LAMA2 G A 1 . . . . . 3.065e-05 . intronic . . 5.418e-05 0.0002 4 +chr6 129785499 LAMA2 C T 1 . 8.067 MedGen:CN117977|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|Congenital_Muscular_Dystrophy,_LAMA2-related Uncertain_significance 0.0001 nonsynonymous_SNV exonic T 0.0002 0.0001 0.0002 5 +chr6 129785554 LAMA2 T G 1 . 6.789 MedGen:CN169374 not_specified Uncertain_significance 0.0002 nonsynonymous_SNV exonic T . 0.0002 0.0001 5 +chr6 129796620 LAMA2 C T 109 0.408347 . . . . . . intronic . 0.4104 . 0.3859 -2 +chr6 129807629 LAMA2 C T 170 0.583866 7.378 MedGen:CN169374 not_specified Benign 0.7148 nonsynonymous_SNV exonic D 0.7265 0.7167 0.7152 4 +chr6 129807699 LAMA2 G C 170 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 +chr6 129807714 LAMA2 G A 57 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 +chr6 129807744 LAMA2 C T 1 0.000199681 . . . . 1.499e-05 synonymous_SNV exonic . . 8.982e-06 . 2 +chr6 129813053 LAMA2 A G 14 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 -2 +chr6 129813175 LAMA2 T C 3 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 +chr6 129813508 LAMA2 T A 2 0.0171725 . MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0005 synonymous_SNV exonic . 0.0005 0.0006 0.0005 -2 +chr6 129826335 LAMA2 T C 3 0.00359425 . MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign 0.0135 . intronic . 0.0127 0.0139 0.0123 -2 +chr6 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 +chr6 129833653 LAMA2 T C 1 . . MedGen:CN517202 not_provided Uncertain_significance 0.0005 . intronic . 0.0008 0.0002 6.672e-05 0 +chr6 129837320 LAMA2 C A 8 0.0091853 . MedGen:CN169374 not_specified Benign 0.0355 . intronic . 0.0415 0.0361 0.0334 -2 +chr6 133767787 EYA4 C T 1 0.00579073 . MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374 Dilated_cardiomyopathy_1J|not_specified Benign 7.493e-05 synonymous_SNV exonic . . 7.166e-05 6.7e-05 -8 +chr6 133767795 EYA4 T C 1 0.00479233 . MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374 Dilated_cardiomyopathy_1J|not_specified Benign 2.997e-05 synonymous_SNV exonic . . 6.269e-05 6.663e-05 -8 +chr6 133777731 EYA4 C T 1 . . . . . 1.498e-05 synonymous_SNV exonic . . 8.961e-06 . 4 +chr6 133782375 EYA4 T A 15 0.201278 . . . . . . intronic . 0.0669 . 0.0603 -2 +chr6 133783625 EYA4 ATCTTCTG ATCTG 1 0.058107 . MedGen:CN169374|MedGen:CN239310|MedGen:CN239435 not_specified|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Benign/Likely_benign 0.0006 . intronic . 0.0177 0.0006 0.0003 -6 +chr6 133789728 EYA4 G A 79 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 -6 +chr6 133789728 EYA4 G A 15 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 -6 +chr6 133827354 TARID A G 136 0.722244 . . . . 0.5672 . ncRNA_exonic . 0.5607 0.5633 0.5620 -2 +chr6 133836430 TARID G A 3 0.00539137 . . . . 0.0165 . ncRNA_intronic . 0.0164 0.0174 0.0140 -2 +chr6 133849868 EYA4 C T 3 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 -10 +chr6 133849966 TARID C T 85 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 -6 +chr6 152443744 SYNE1 G T 16 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 -2 +chr6 152443753 SYNE1 G A 2 0.000199681 5.591 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 0.0006 nonsynonymous_SNV exonic T 0.0007 0.0002 0 3 +chr6 152443756 SYNE1 C T 1 0.033147 -0.740 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 0.0031 nonsynonymous_SNV exonic T 0.0014 0.0016 0.0047 -2 +chr6 152443761 SYNE1 C T,A 1 . 2.009 . . . 0.0001 nonsynonymous_SNV exonic T . 1.793e-05 6.669e-05 4 +chr6 152453291 SYNE1 G A 13 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 -2 +chr6 152456276 SYNE1 T G 2 0.000199681 6.670 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:CN169374 Spinocerebellar_ataxia,_autosomal_recessive_8|not_specified Uncertain_significance 0.0007 nonsynonymous_SNV exonic T 0.0008 0.0009 0.0008 3 +chr6 152457783 SYNE1 G A 1 0.000199681 . 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 Likely_benign 6.072e-05 synonymous_SNV exonic . 0.0001 5.467e-05 0 2 +chr6 152461140 SYNE1 C T 1 . 1.255 MedGen:CN169374 not_specified Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0002 0.0002 2 +chr6 152462480 SYNE1 C A 7 0.00559105 . MedGen:CN169374 not_specified Benign 0.0096 . intronic . 0.0097 0.0091 0.0057 8 +chr6 152464786 SYNE1 G A 1 0.000199681 7.591 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 0.0027 nonsynonymous_SNV exonic T 0.0034 0.0027 0.0019 3 +chr6 152464839 SYNE1 A G 119 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 -2 +chr6 152466674 SYNE1 T C 83 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 -2 +chr6 152466728 SYNE1 C G 1 . . . . . . . intronic . . . . 4 +chr6 152469188 SYNE1 C G 85 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 -2 +chr6 152469331 SYNE1 C T 63 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 -2 +chr6 152470752 SYNE1 C A 30 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 -2 +chr6 152473181 SYNE1 T C 22 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 -2 +chr6 152477054 SYNE1 C T 1 . 7.558 MedGen:CN169374 not_specified Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic D . 3.583e-05 . 10 +chr6 152501416 SYNE1 C T 2 0.00119808 4.749 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 Likely_benign 0.0060 nonsynonymous_SNV exonic T 0.0055 0.0063 0.0060 0 +chr6 152510429 SYNE1 G A 3 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 +chr6 152523087 MIR3163 A G 1 . . . . . . . ncRNA_intronic . . . . 4 +chr6 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 -2 +chr6 152529260 SYNE1 G A 51 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 -2 +chr6 152532702 SYNE1 T C 3 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 1 +chr6 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 -2 +chr6 152534789 SYNE1 T C 2 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 -2 +chr6 152539446 SYNE1 G A 1 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 Benign/Likely_benign 0.0003 synonymous_SNV exonic . 0.0002 0.0002 0.0001 0 +chr6 152540147 SYNE1 A C 1 . . MedGen:CN169374 not_specified Uncertain_significance 7.493e-05 synonymous_SNV exonic . . 9.87e-05 6.66e-05 4 +chr6 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 2 +chr6 152540278 SYNE1 A C 223 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 -2 +chr6 152542548 MIR3163 A G 37 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 +chr6 152545665 SYNE1 G A 1 0.000199681 . 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 Likely_benign 0.0023 synonymous_SNV exonic . 0.0022 0.0019 0.0020 0 +chr6 152554928 SYNE1 C G 1 . 4.407 . . . . nonsynonymous_SNV exonic T . . . 4 +chr6 152555057 SYNE1 T A 11 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 -2 +chr6 152555072 SYNE1 T C 1 . . . . . 3.009e-05 synonymous_SNV exonic . . 1.793e-05 . 4 +chr6 152555112 SYNE1 C T 59 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 -2 +chr6 152557936 SYNE1 G A 1 0.00479233 . MedGen:CN169374 not_specified Likely_benign 0.0002 . intronic . 0.0001 0.0001 6.662e-05 0 +chr6 152560744 SYNE1 G A 1 0.00419329 1.700 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 Benign/Likely_benign 0.0001 nonsynonymous_SNV exonic T 0.0001 6.271e-05 0 0 +chr6 152563590 SYNE1 C T 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 Likely_benign 0.0002 . intronic . . 0.0002 6.665e-05 2 +chr6 152565669 SYNE1 C T 1 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 0 +chr6 152565803 SYNE1 C G 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 2.997e-05 . intronic . . 7.164e-05 0 2 +chr6 152570274 SYNE1 A G 24 0.0607029 . . . . 0.0782 . intronic . 0.0780 0.0786 0.0692 -2 +chr6 152570415 SYNE1 G A 120 0.680711 . MedGen:CN169374 not_specified Benign 0.6208 . intronic . 0.6098 0.6133 0.6467 -2 +chr6 152577752 SYNE1 T C 22 0.0764776 . MedGen:CN169374 not_specified Benign 0.0622 . intronic . 0.0598 0.0592 0.0500 -2 +chr6 152589193 SYNE1 A G 1 . . MedGen:CN169374 not_specified Likely_benign . synonymous_SNV exonic . . 0 0 4 +chr6 152615200 SYNE1 G A 42 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 -2 +chr6 152621881 SYNE1 C T 1 . . . . . 0 synonymous_SNV exonic . . 0 0 4 +chr6 152629617 SYNE1 C T 71 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 -2 +chr6 152629617 SYNE1 C T 10 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 -2 +chr6 152629631 SYNE1 C T 6 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 -2 +chr6 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 -2 +chr6 152629769 SYNE1 TTTGAAAAAAAAAAAAAACAGAAAGATAGAC TTTTAAAAAAAAAAAAAACAGAAAGATAGAC,TTTTAAAAAAAAAAAAACAGAAAGATAGAC 2 . . . . . . . intronic\x3bintronic\x3bintronic\x3bintronic . . . . 4 +chr6 152629771 SYNE1 TGAAAAAAAAAAAAAACAGAAAGATAGAC TTAAAAAAAAAAAAACAGAAAGATAGAC,TTAAAAAAAAAAAAAACAGAAAGATAGAC,TGAAAAAAAAAAAAACAGAAAGATAGAC 2 0.426518 . MedGen:CN169374 not_specified Benign 0.4072 . intronic\x3bintronic\x3bintronic . . 0.4011 0.4450 -2 +chr6 152629771 SYNE1 TGAAAAAAAAAAAAAACAGAAAGATAGAC TTAAAAAAAAAAAAAACAGAAAGATAGAC,TTAAAAAAAAAAAAACAGAAAGATAGAC,TGAAAAAAAAAAAAACAGAAAGATAGAC 2 0.426518 . MedGen:CN169374 not_specified Benign 0.4072 . intronic\x3bintronic\x3bintronic . . 0.4011 0.4450 -2 +chr6 152629772 SYNE1 GAAAAAAAAAAAAAAC GAAAAAAAAAAAAAC,TAAAAAAAAAAAAAAC 2 . . MedGen:CN169374 not_specified Uncertain_significance . . intronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic . . . . 4 +chr6 152631566 SYNE1 G A 1 . 7.635 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 0.0010 nonsynonymous_SNV exonic T . 0.0010 0.0007 3 +chr6 152631802 SYNE1 CTTTTTTTTTTCTTTTTTTACCTTAG CTTTTTTTTTTTCTTTTTTTACCTTAG,CTTTTTTTTTTATTTTTTTACCTTAG 1 . . . . . 1.706e-05 . intronic . . 9.861e-06 . 4 +chr6 152631869 SYNE1 C T 1 0.000199681 0.473 MedGen:CN169374 not_specified Uncertain_significance 3.002e-05 nonsynonymous_SNV exonic T . 2.686e-05 6.698e-05 2 +chr6 152639250 SYNE1 C T 1 0.000599042 2.254 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 0.0003 nonsynonymous_SNV exonic T 0.0003 0.0002 6.66e-05 0 +chr6 152640110 SYNE1 G A 2 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 -2 +chr6 152646279 SYNE1 G C 4 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 -2 +chr6 152647652 SYNE1 G A 1 . . . . . 7.493e-05 synonymous_SNV exonic . . 4.476e-05 6.659e-05 4 +chr6 152647681 SYNE1 A T 158 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 -2 +chr6 152650903 SYNE1 G A 8 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 -2 +chr6 152651440 SYNE1 G A 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 0.0002 synonymous_SNV exonic . 0.0001 0.0002 0.0003 2 +chr6 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 -2 +chr6 152651971 SYNE1 T G 2 . 4.654 MedGen:CN169374 not_specified Uncertain_significance 0.0002 nonsynonymous_SNV exonic T . 0.0002 6.66e-05 2 +chr6 152652034 SYNE1 A T 158 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 -2 +chr6 152652599 SYNE1 G A 8 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 -2 +chr6 152652867 SYNE1 G A 1 . 5.577 . . . 0.0003 nonsynonymous_SNV exonic T . 0.0002 0 5 +chr6 152653037 SYNE1 T C 102 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 -2 +chr6 152655330 SYNE1 C T 1 0.0325479 1.804 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 0.0002 nonsynonymous_SNV exonic T . 0.0002 0.0002 -2 +chr6 152658062 SYNE1 C G 7 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 1 +chr6 152658141 SYNE1 CT AC,CC 7 . . . . . . frameshift_deletion exonic . . . . 12 +chr6 152658142 SYNE1 T C 129 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 -2 +chr6 152660451 SYNE1 G A 23 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 -2 +chr6 152665261 SYNE1 C A 146 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 -2 +chr6 152668211 SYNE1 A G 3 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 1 +chr6 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 -2 +chr6 152668272 SYNE1 C T 1 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 0 +chr6 152671384 SYNE1 C G 1 . 2.098 . . . 7.492e-05 nonsynonymous_SNV exonic T 0.0001 9.849e-05 0 4 +chr6 152671475 SYNE1 A C 148 0.58746 . MedGen:CN169374 not_specified Benign 0.6003 . intronic . 0.6098 0.6049 0.6074 -2 +chr6 152671865 SYNE1 T G 6 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 -2 +chr6 152671919 SYNE1 GAAAAAAAAATGAGC GAAAAAAAAAATGAGC,TAAAAAAAAATGAGC 6 . . . . . . . intronic . . . . 12 +chr6 152673147 SYNE1 G A 149 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 -2 +chr6 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 0 +chr6 152675854 SYNE1 A G 150 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 -2 +chr6 152675854 SYNE1 A G 25 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 -2 +chr6 152679518 SYNE1 C T 2 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 -2 +chr6 152679594 SYNE1 A G 8 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 -2 +chr6 152683413 SYNE1 G T 167 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 -2 +chr6 152685970 SYNE1 A G 1 0.0547125 . 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 0.0003 . intronic . 0.0007 0.0003 0.0003 -2 +chr6 152686071 SYNE1 A G 1 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 0 +chr6 152686090 SYNE1 G T 1 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 0 +chr6 152690594 SYNE1 C T 1 0.00119808 . 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 0.0003 . intronic . 0.0003 0.0002 6.673e-05 0 +chr6 152694184 SYNE1 T C 125 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 -2 +chr6 152694190 SYNE1 T C 2 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 0 +chr6 152694297 SYNE1 C T 1 . 4.747 . . . . nonsynonymous_SNV exonic T . 0 . 4 +chr6 152697692 SYNE1 G C 1 0.00119808 5.603 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 nonsynonymous_SNV exonic T 0.0031 0.0030 0.0025 3 +chr6 152697706 SYNE1 C T 107 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 -2 +chr6 152706868 SYNE1 G A 1 . 7.515 . . . 2.997e-05 nonsynonymous_SNV exonic T . 2.689e-05 6.668e-05 7 +chr6 152708293 SYNE1 A G 1 . 2.133 . . . . nonsynonymous_SNV exonic T . . . 4 +chr6 152708310 SYNE1 G A 52 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 -2 +chr6 152711406 SYNE1 G A 2 0.0996406 . 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 0.0010 . intronic . 0.0015 0.0011 0.0008 -2 +chr6 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 0 +chr6 152711429 SYNE1 G A 2 0.0571086 . 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 0.0007 synonymous_SNV exonic . 0.0010 0.0007 0.0004 -2 +chr6 152712705 SYNE1 TG TT 2 . . . . . . . intronic . . . . 4 +chr6 152712706 SYNE1 G T 15 . . . . . . . intronic . . . . 12 +chr6 152712714 SYNE1 GG TG,AA,AG 15 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 -2 +chr6 152712715 SYNE1 GAAAAAAAAAAAAAAGAAAAAAAATTAATTCT AAAAAAAAAAAAAAAGAAAAAAAATTAATTCT,TAAAAAAAAAAAAAAGAAAAAAAATTAATTCT,CAAAAAAAAAAAAAAGAAAAAAAATTAATTCT,GAAAAAAAAAAAAAGAAAAAAAATTAATTCT 15 . . . . . 0.2474 . intronic . . . 0.0032 -2 +chr6 152717896 SYNE1 T C 13 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 -2 +chr6 152722303 SYNE1 A G 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr6 152725470 SYNE1 TAACTAA TA 1 . . . . . . . intronic . . . . 4 +chr6 152730273 SYNE1 T C 1 0.0217652 0.551 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 0.0007 nonsynonymous_SNV exonic T 0.0009 0.0007 0.0006 -2 +chr6 152730736 SYNE1 A G 1 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 0 +chr6 152740681 SYNE1 TAAAAAAAAAAAAAC TAAAAAAAAAAAAAAC 8 0.35024 . . . . 0.3240 . intronic . 0.2008 0.3715 0.2080 -2 +chr6 152746593 SYNE1 A T 11 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 -2 +chr6 152746682 SYNE1 C A 1 0.000998403 2.163 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 0.0040 nonsynonymous_SNV exonic T 0.0044 0.0041 0.0042 0 +chr6 152749370 SYNE1 G T 1 . -1.224 . . . . nonsynonymous_SNV exonic T . . . 4 +chr6 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 0 +chr6 152751218 SYNE1 ATAGTAGA ATAGA 32 . . MedGen:CN169374 not_specified Likely_benign 0.1868 . intronic . 0.1354 0.1288 0.1291 -2 +chr6 152751241 SYNE1 T A 1 . . . . . . . intronic . . 1.07e-05 . 4 +chr6 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 10 +chr6 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 -2 +chr6 152765579 SYNE1 C 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 0.0132 synonymous_SNV exonic . 0.0124 0.0135 0.0130 -2 +chr6 152765725 SYNE1 TGAAAAAAAAAAACACGT TTAAAAAAAAAAACACGT,TGAAAAAAAAAACACGT 2 . . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy Uncertain_significance 0.2367 . intronic\x3bintronic . 0.1587 0.1741 0.0478 -2 +chr6 152765726 SYNE1 GAAAAAAAAAAAC TAAAAAAAAAAAC,GAAAAAAAAAAC 2 . . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy Uncertain_significance 0.2367 . intronic\x3bintronic . 0.1587 0.1741 0.0478 -2 +chr6 152768761 SYNE1 A G 1 . . . . . . . intronic . . . . 4 +chr6 152770645 SYNE1 G A 12 0.0185703 . . . . 0.0360 . intronic . 0.0345 0.0326 0.0394 -2 +chr6 152771849 SYNE1 G A 15 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 -2 +chr6 152772264 SYNE1 A G 99 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 1 +chr6 152776744 SYNE1 C G 1 . -0.078 . . . . . intronic T . 0 . 4 +chr6 152777095 SYNE1 A C 15 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 -2 +chr6 152777118 SYNE1 T C 1 . 2.468 MedGen:CN169374 not_specified Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0002 2 +chr6 152779933 SYNE1 G A 12 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 -2 +chr6 152784571 SYNE1 CAC CC 1 . . . . . . frameshift_deletion exonic . . . . 4 +chr6 152784621 SYNE1 T C 1 0.00399361 4.526 . . . 0.0085 nonsynonymous_SNV exonic T 0.0080 0.0078 0.0087 0 +chr6 152786447 SYNE1 T C 1 0.00139776 . 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 0.0084 synonymous_SNV exonic . 0.0080 0.0091 0.0069 0 +chr6 152787211 SYNE1 A G 1 . . . . . 1.535e-05 synonymous_SNV exonic . . 9.009e-06 . 4 +chr6 152793412 SYNE1 C A 171 0.855232 . MedGen:CN169374 not_specified Benign 0.7166 . intronic . 0.7044 0.7070 0.7065 -2 +chr6 152793571 SYNE1 ATAAA AAAAG,ATAAG 171 . . . . . . . intronic\x3bintronic\x3bintronic . . . . 12 +chr6 152793572 SYNE1 TAAA AAAG,TAAG,AAAA 171 0.483427 . MedGen:CN169374 not_specified Benign 0.3388 . intronic . 0.0162 0.3152 0.3368 -2 +chr6 152793573 SYNE1 AAA AAG 1 . . . . . . . intronic\x3bintronic\x3bintronic . . . . 4 +chr6 152793575 SYNE1 A G 10 0.602236 . MedGen:CN169374 not_specified Benign 0.4256 . intronic . 0.1459 0.4045 0.4136 -2 +chr6 152809527 SYNE1 A T 99 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 -2 +chr6 152832652 SYNE1 GTT GT 1 . . . . . . . intronic . . . . 4 +chr6 152832708 SYNE1 G T 1 . 2.668 . . . . nonsynonymous_SNV exonic D . . . 7 +chr6 152832770 SYNE1 T A 2 . . . . . 1.505e-05 . intronic . . 1.801e-05 . 4 +chr6 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 -2 +chr6 152847335 SYNE1 G A 79 0.264177 . MedGen:CN169374 not_specified Benign 0.3249 . intronic . 0.3233 0.3243 0.3317 -2 +chr6 152861065 SYNE1 A G 1 0.000199681 . . . . 7.493e-05 . intronic . . 6.272e-05 0 2 +chr7 35271254 TBX20 T C 61 0.0888578 . . . . . . intronic . 0.1782 . 0.1482 -2 +chr7 35280539 TBX20 G T 1 0.0305511 . MedGen:CN230736 Cardiovascular_phenotype Benign 0.0005 synonymous_SNV exonic . 0.0006 0.0005 0.0008 -2 +chr7 35288276 TBX20 T C 81 0.34365 . . . . 0.3817 . intronic . 0.3907 0.3819 0.3924 -2 +chr7 35288326 TBX20 G A 1 . . . . . 1.505e-05 synonymous_SNV exonic . . 8.979e-06 . 4 +chr7 35293193 TBX20 A G 169 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 +chr7 81579832 CACNA2D1 TAAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATC TAAAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATC,TAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATC 169 . . . . . 0.0177 . intronic . 0.0097 0.0076 0.0003 -2 +chr7 81588609 CACNA2D1 G A 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr7 81588636 CACNA2D1 G A 83 0.222644 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3047 synonymous_SNV exonic . 0.3153 0.3061 0.3054 -2 +chr7 81591716 CACNA2D1 T G 82 0.230232 . . . . 0.3482 . intronic . 0.3168 0.3118 0.3041 -2 +chr7 81593454 CACNA2D1 G A 51 0.257987 . . . . 0.2096 . intronic . 0.2076 0.2123 0.1978 -2 +chr7 81600060 CACNA2D1 C G 1 . . . . . . . intronic . . . . 4 +chr7 81600125 CACNA2D1 T C 1 0.00159744 . . . . . . intronic . . . 0.0001 0 +chr7 81603841 CACNA2D1 C T 1 0.000399361 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0034 synonymous_SNV exonic . 0.0020 0.0028 0.0058 0 +chr7 81603871 CACNA2D1 GAAAAAAAAAC GAAAAAAAAAAAC 8 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 +chr7 81620630 CACNA2D1 C T 1 . . . . . . . intronic . . . . 4 +chr7 81626637 CACNA2D1 C T,A 1 . . . . . . . intronic . . . . 4 +chr7 81634821 CACNA2D1 AGAAAAAAAAAAAAAAGCTT ATAAAAAAAAAAAAAAGCTT,AGAAAAAAAAAAAAAGCTT,ACAAAAAAAAAAAAAAGCTT,ATAAAAAAAAAAAAAGCTT,AGAAAAAAAAAAAAAAGATT 1 . . . . . . . intronic . . . . 4 +chr7 81634822 CACNA2D1 GAAAAAAAAAAAAAAGCTT TAAAAAAAAAAAAAAGCTT,GAAAAAAAAAAAAAGCTT 1 0.20028 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.3124 . intronic\x3bintronic . . 0.2613 0.0468 -2 +chr7 81635170 CACNA2D1 CAAAAAATG CAAAAATG 1 0.0289537 . MedGen:CN169374 not_specified Benign 0.0020 . intronic . 0.0013 0.0013 0.0018 -2 +chr7 81641500 CACNA2D1 G A 2 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 +chr7 81641553 CACNA2D1 A G 1 0.0223642 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0005 synonymous_SNV exonic . 0.0006 0.0006 0.0004 -2 +chr7 81641570 LOC101927356 GAAAAAAAAAAAAAGTCG GAAAAAAAAAAAAGTCG,TAAAAAAAAAAAAAAAAAGTCG,GAAAAAAAAAAAAAAAAAGTCG,GAAAAAAAAAAAAAAGTCG,GAAAAAAAAAAAGTCG 1 . . . . . . . ncRNA_intronic . . . . 4 +chr7 81643813 LOC101927356 T C 1 0.00359425 . MedGen:CN169374 not_specified Benign 0.0073 . ncRNA_intronic . 0.0079 0.0075 0.0069 0 +chr7 81667468 CACNA2D1 C T 11 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 +chr7 81695859 CACNA2D1 G A 1 0.0071885 . MedGen:CN169374 not_specified Likely_benign 6.77e-05 . intronic . . 0.0057 0.0011 0 +chr7 81765996 CACNA2D1 CAAAAAAAAAAGAACGC CAAAAAAAAAAAGAACGC,CAAAAAAAAAGAACGC,AAAAAAAAAAAGAACGC 1 . . . . . 5.453e-05 . intronic . . 0.0015 0.0011 0 +chr7 81766010 CACNA2D1 C T 1 . . . . . 0 . intronic . 0.0001 0 6.714e-05 4 +chr7 81799966 CACNA2D1 G A 9 0.0139776 . . . . 0.0244 . intronic . 0.0274 0.0265 0.0216 -2 +chr7 81799990 CACNA2D1 T C 9 0.0609026 . . . . . . intronic . 0.0292 . 0.0218 -2 +chr7 81799996 CACNA2D1 C G 9 0.0609026 . . . . . . intronic . 0.0289 . 0.0218 -2 +chr7 81964578 CACNA2D1 GAAAAAAAAAACTAG GAAAAAAAAAAACTAG,AAAAAAAAAAACTAG,TAAAAAAAAAACTAG,GAAAAAAAAACTAG,TAAAAAAAAAAACTAG 9 . . . . . . . intronic . . . . 12 +chr7 91603115 AKAP9 C T 3 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 -2 +chr7 91609712 AKAP9 T G 1 . . . . . . . intronic . . . . 4 +chr7 91622303 AKAP9 G C 2 0.00119808 2.587 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN029323,OMIM:601144|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Brugada_syndrome_1|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0022 nonsynonymous_SNV exonic T 0.0034 0.0026 0.0030 0 +chr7 91630179 AKAP9 A G 1 . . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign 0.0011 synonymous_SNV exonic . . 0.0005 0.0003 0 +chr7 91630620 AKAP9 G T 91 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 -2 +chr7 91632306 AKAP9 C T 198 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 -2 +chr7 91641928 AKAP9 A G 91 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 -2 +chr7 91651548 AKAP9 A G 1 . . . . . 2.999e-05 . intronic . . 3.586e-05 0 4 +chr7 91652178 AKAP9 AAACT AAACAACT 91 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 -2 +chr7 91652302 AKAP9 G C 1 0.000199681 -0.977 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Likely_benign 0.0013 nonsynonymous_SNV exonic T 0.0013 0.0011 0.0014 0 +chr7 91652317 AKAP9 C T 1 . 1.635 . . . 2.998e-05 nonsynonymous_SNV exonic T 0.0001 1.791e-05 0 4 +chr7 91659216 AKAP9 G T 1 . 0.720 MedGen:CN517202 not_provided Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic T . 8.956e-06 . 4 +chr7 91668072 AKAP9 A G 1 . -0.733 . . . . nonsynonymous_SNV exonic T . . . 4 +chr7 91669960 AKAP9 GTTTTTTTTTTTTTTTTTA GTTTTTTTTTTTTTTTTTTA 3 . . . . . 0.1614 . intronic . 0.3501 0.2447 0.4609 -2 +chr7 91669979 AKAP9 C A 22 . . . . . . . intronic . . . . 12 +chr7 91670120 AKAP9 A C 1 0.000599042 . . . . 0.0004 synonymous_SNV exonic . 0.0002 0.0004 0.0002 0 +chr7 91691601 AKAP9 C T 91 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 -2 +chr7 91691756 AKAP9 G T 1 . 5.783 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance . nonsynonymous_SNV exonic T . . . 7 +chr7 91694743 AKAP9 A G 1 0.000199681 6.436 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 0.0009 nonsynonymous_SNV exonic T 0.0008 0.0011 0.0011 3 +chr7 91695882 AKAP9 C T 1 . . . . . 7.557e-05 . intronic . . 4.555e-05 . 4 +chr7 91700267 AKAP9 T C 1 0.00199681 2.032 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0055 nonsynonymous_SNV exonic T 0.0030 0.0049 0.0039 0 +chr7 91707197 AKAP9 C T 91 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 -2 +chr7 91708898 AKAP9 A G 32 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 -2 +chr7 91712698 AKAP9 A G 91 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 -2 +chr7 91713972 AKAP9 C T 91 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 -2 +chr7 91714015 AKAP9 G C 1 . 2.529 . . . . nonsynonymous_SNV exonic T . . . 4 +chr7 91714911 AKAP9 C T 230 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 -2 +chr7 91715662 AKAP9 C T 91 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 -2 +chr7 91718854 AKAP9 T C 1 . . . . . 0.0024 . intronic . 0.0017 0.0021 0.0013 0 +chr7 91726107 AKAP9 A G 1 . . . . . . synonymous_SNV exonic . . . . 4 +chr7 91726576 AKAP9 C T 1 . 11.961 . . . . stopgain exonic . . . . 12 +chr7 91726927 AKAP9 A C 91 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 -2 +chr7 91726960 AKAP9 G A 1 0.000199681 5.335 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic T 0.0008 0.0006 0.0007 3 +chr7 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 3 +chr7 91729127 AKAP9 A G 5 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 -2 +chr7 91735104 AKAP9 A C 1 0.00139776 . . . . 0.0006 . intronic . 0.0001 0.0007 0.0004 0 +chr7 91736709 AKAP9 T C 1 . 2.077 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374 Long_QT_syndrome|not_specified Conflicting_interpretations_of_pathogenicity 0.0001 nonsynonymous_SNV exonic T 0.0002 0.0002 6.662e-05 2 +chr7 91737825 AKAP9 CTGAT CT 1 . . . . . . nonframeshift_deletion exonic . . . . 4 +chr7 92077201 GATAD1 GGG GGA,CGG 1 . -1.144 . . . . nonsynonymous_SNV exonic T . . . 4 +chr7 92077202 GATAD1 GGGCA GAGCA,CCCCC,CGGCA,GGGCC,TGGCA,CGCCC 1 . . . . . . nonframeshift_substitution exonic . . . . 4 +chr7 92077203 GATAD1 GGCA AGCA,GCCC,CCCC,CGCA,GGCC 1 . . . . . . frameshift_deletion\x3bframeshift_deletion exonic\x3bexonic . . . . 4 +chr7 92078092 GATAD1 T G 1 . . MedGen:C3553409,OMIM:614672|MedGen:CN169374 Cardiomyopathy,_dilated,_2b|not_specified Benign/Likely_benign 0.0003 synonymous_SNV exonic . 0.0007 0.0004 0.0002 0 +chr7 92085828 GATAD1 G A 1 0.000798722 . MedGen:C3553409,OMIM:614672|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy,_dilated,_2b|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0021 synonymous_SNV exonic . 0.0034 0.0026 0.0038 0 +chr7 128470838 FLNC C T 23 0.110024 . MedGen:CN169374 not_specified Benign 0.0860 synonymous_SNV exonic . 0.0851 0.0856 0.0929 -2 +chr7 128470902 FLNC A G 1 . 4.048 . . . . nonsynonymous_SNV exonic T . 9.003e-06 . 4 +chr7 128475393 FLNC C T 1 . . MedGen:CN169374 not_specified Likely_benign 0.0001 synonymous_SNV exonic . 0.0001 9.057e-05 . 4 +chr7 128475588 FLNC C T 1 0.000399361 . 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 0.0037 synonymous_SNV exonic . 0.0016 0.0031 0.0045 -4 +chr7 128475624 FLNC C T 1 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 -4 +chr7 128477472 FLNC T C 27 0.121805 . MedGen:CN169374 not_specified Benign 0.1113 synonymous_SNV exonic . 0.1110 0.1118 0.1201 -2 +chr7 128477547 FLNC T C 27 0.121006 . MedGen:CN169374 not_specified Benign 0.1112 synonymous_SNV exonic . 0.1108 0.1116 0.1200 -2 +chr7 128477620 FLNC G A 21 0.076877 . MedGen:CN169374 not_specified Benign 0.0891 . intronic . 0.0864 0.0879 0.0896 -2 +chr7 128477778 FLNC A G 1 . 5.572 . . . . nonsynonymous_SNV exonic D . . . 10 +chr7 128477823 FLNC G T 2 . . MedGen:CN169374 not_specified Likely_benign 0.0005 . intronic . . 0.0004 0.0002 0 +chr7 128478103 FLNC C T 9 0.196486 . MedGen:CN169374 not_specified Benign 0.0420 synonymous_SNV exonic . 0.0409 0.0410 0.0397 -2 +chr7 128480123 FLNC C A 7 0.196086 . MedGen:CN169374 not_specified Benign 0.0205 synonymous_SNV exonic . 0.0179 0.0181 0.0192 -2 +chr7 128480184 FLNC G A 1 0.000998403 7.368 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 0.0014 nonsynonymous_SNV exonic D 0.0012 0.0013 0.0011 10 +chr7 128480229 FLNC C A 2 0.00139776 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.0063 . intronic . 0.0052 0.0064 0.0067 0 +chr7 128480652 FLNC G A 1 0.000199681 2.421 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 0.0011 0.0013 0.0018 4 +chr7 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 -10 +chr7 128481312 FLNC G A 2 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 -8 +chr7 128481562 FLNC G A 1 . 2.772 . . . 5.995e-05 nonsynonymous_SNV exonic T . 6.266e-05 0 4 +chr7 128482440 FLNC C G 9 0.267372 . MedGen:CN169374 not_specified Benign 0.0534 . intronic . 0.0515 0.0539 0.0538 -2 +chr7 128482735 FLNC G T 1 . 6.862 . . . . nonsynonymous_SNV exonic D . . . 10 +chr7 128482834 FLNC C T 2 0.00339457 . MedGen:CN169374 not_specified Benign 0.0169 . intronic . 0.0114 0.0136 0.0101 -2 +chr7 128482835 FLNC C T 4 0.0147764 . MedGen:CN169374 not_specified Benign 0.0449 . intronic . 0.0352 0.0387 0.0446 -2 +chr7 128482839 FLNC T C 1 0.000399361 . 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 0.0037 . intronic . 0.0026 0.0034 0.0030 -4 +chr7 128482959 FLNC C T 1 0.0239617 3.931 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 0.0012 nonsynonymous_SNV exonic D 0.0015 0.0012 0.0012 -7 +chr7 128482977 FLNC G A 1 . 2.091 . . . 1.516e-05 nonsynonymous_SNV exonic T 0.0001 3.588e-05 . 4 +chr7 128484236 FLNC C G 1 . 11.605 . . . . stopgain exonic . . . . 12 +chr7 128484816 FLNC A G 37 0.379992 . MedGen:CN169374 not_specified Benign 0.1635 synonymous_SNV exonic . 0.1648 0.1643 0.1724 -2 +chr7 128484823 FLNC C T 1 . 5.914 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant Uncertain_significance 0.0001 nonsynonymous_SNV exonic D 0.0001 0.0002 0.0003 8 +chr7 128485323 FLNC A G 1 . . . . . 1.693e-05 . intronic . . 9.293e-06 . 4 +chr7 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 -10 +chr7 128486363 FLNC C T 35 0.346046 . MedGen:CN169374 not_specified Benign 0.1711 synonymous_SNV exonic . 0.1622 0.1667 0.1717 -2 +chr7 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 7 +chr7 128486446 FLNC C T 9 0.160543 . MedGen:CN169374 not_specified Benign 0.0420 synonymous_SNV exonic . 0.0401 0.0409 0.0396 -2 +chr7 128487866 FLNC T C 230 0.990615 . MedGen:CN169374 not_specified Benign 0.9999 synonymous_SNV exonic . 1 0.9999 0.9999 -2 +chr7 128487893 FLNC G A 9 0.257788 . MedGen:CN169374 not_specified Benign 0.0446 synonymous_SNV exonic . 0.0433 0.0439 0.0428 -2 +chr7 128488030 FLNC T C 1 . . MedGen:CN169374 not_specified Uncertain_significance 0.0002 synonymous_SNV exonic . 0.0001 0.0002 6.699e-05 2 +chr7 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 -2 +chr7 128488786 FLNC A G 1 0.000998403 . MedGen:CN169374 not_specified Likely_benign 0.0023 . intronic . 0.0015 0.0023 0.0030 0 +chr7 128488909 FLNC G A 1 . . . . . 4.515e-05 synonymous_SNV exonic . . 4.505e-05 . 4 +chr7 128489228 FLNC T C 1 0.00399361 . 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 0.0050 . intronic . 0.0049 0.0054 0.0038 -8 +chr7 128489254 FLNC C T 1 0.000798722 . 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 0.0012 synonymous_SNV exonic . 0.0016 0.0013 0.0006 -4 +chr7 128490553 FLNC T C 41 0.403355 . MedGen:CN169374 not_specified Benign 0.1948 . intronic . 0.1900 0.1934 0.2064 -2 +chr7 128491324 FLNC C T 1 0.00219649 7.479 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 0.0083 nonsynonymous_SNV exonic T 0.0062 0.0084 0.0068 -5 +chr7 128491497 FLNC C T 4 0.0147764 . MedGen:CN169374 not_specified Benign 0.0396 . intronic . 0.0352 0.0386 0.0445 -2 +chr7 128491603 FLNC T C 9 0.288938 . MedGen:CN169374 not_specified Benign 0.0448 synonymous_SNV exonic . 0.0448 0.0443 0.0431 -2 +chr7 128492746 FLNC C T 1 0.000199681 7.613 . . . 9.158e-05 nonsynonymous_SNV exonic T . 9.889e-05 6.688e-05 5 +chr7 128492825 FLNC G A 2 0.00479233 . MedGen:CN169374 not_specified Benign 0.0185 . intronic . 0.0172 0.0189 0.0180 -2 +chr7 128494510 FLNC A G 1 0.00998403 . 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 0.0004 synonymous_SNV exonic . 0.0008 0.0003 0.0002 -8 +chr7 128494727 FLNC G A 1 0.000798722 5.307 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant Benign 0.0002 nonsynonymous_SNV exonic D . 0.0002 6.677e-05 -2 +chr7 128495338 FLNC C T 9 0.258786 . MedGen:CN169374 not_specified Benign 0.0445 synonymous_SNV exonic . 0.0436 0.0439 0.0426 -2 +chr7 128496588 FLNC T A 1 . 5.868 . . . . nonsynonymous_SNV exonic D . . . 10 +chr7 136700385 CHRM2 A G 2 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 -4 +chr7 136700603 CHRM2 A T 1 0.00579073 -0.242 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign 1.5e-05 nonsynonymous_SNV exonic T . 9.03e-06 0 -8 +chr7 150642438 KCNH2 C T 1 0.0109824 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Likely_benign 0.0001 . UTR3 . 0.0001 9.644e-05 6.684e-05 -2 +chr7 150644152 KCNH2 G T 1 . . . . . 7.955e-05 . intronic . . 0.0001 . 4 +chr7 150644404 KCNH2 G T 2 0.00159744 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374 Long_QT_syndrome|not_specified Benign/Likely_benign 0.0147 . intronic . 0.0029 0.0038 0.0033 -2 +chr7 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 1 +chr7 150644513 KCNH2 T G 1 . -0.372 . . . . nonsynonymous_SNV exonic T . . . 4 +chr7 150644729 KCNH2 C A 1 . -0.174 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance 0 nonsynonymous_SNV exonic D . 0 0 7 +chr7 150645534 KCNH2 T G 62 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 -2 +chr7 150646974 KCNH2 T C 1 . . . . . . . UTR3 . . . . 4 +chr7 150648198 KCNH2 A G 143 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 -2 +chr7 150648789 KCNH2 T C 81 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 -2 +chr7 150648846 KCNH2 G A 1 0.000199681 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN517202 Long_QT_syndrome|not_specified|not_provided Benign/Likely_benign 3.052e-05 synonymous_SNV exonic . . 5.411e-05 0 2 +chr7 150649530 KCNH2 CG CA 2 . . . . . . frameshift_deletion exonic . . . . 4 +chr7 150649531 KCNH2 G A 49 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 -2 +chr7 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 0 +chr7 150649603 KCNH2 G A 53 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 -2 +chr7 150654517 KCNH2 A G 1 . . . . . 3.033e-05 synonymous_SNV exonic . . 1.794e-05 . 4 +chr7 150655150 KCNH2 T G 2 . 2.369 . . . . nonsynonymous_SNV exonic D . . . 7 +chr7 150655288 KCNH2 C T 1 . 3.091 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:CN169374 Long_QT_syndrome|Congenital_long_QT_syndrome|not_specified Uncertain_significance 0 nonsynonymous_SNV exonic D . 0 6.695e-05 7 +chr7 150656741 KCNH2 C A 1 . 2.392 . . . 2.999e-05 nonsynonymous_SNV exonic D 0.0001 2.686e-05 0 7 +chr7 151254231 PRKAG2 C T 3 0.00519169 . . . . . . UTR3 . 0.0082 . 0.0071 4 +chr7 151257695 PRKAG2 C T 3 0.00139776 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736|MedGen:CN239247 Cardiomyopathy|Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Conflicting_interpretations_of_pathogenicity 0.0050 synonymous_SNV exonic . 0.005 0.0056 0.0047 4 +chr7 151262385 PRKAG2 T C,G 3 . . . . . . . intronic . . . . 8 +chr7 151262528 PRKAG2 A C 2 0.00239617 . . . . . . intronic . . . 0.0008 0 +chr7 151267353 PRKAG2 G A 20 0.144169 . MedGen:CN169374 not_specified Benign 0.1175 . intronic . 0.1105 0.1131 0.1201 -2 +chr7 151292395 PRKAG2 AAT ATAT 29 0.804712 . MedGen:CN169374 not_specified Likely_benign 0.7345 . intronic . 0.7284 0.7300 0.7277 -2 +chr7 151329206 PRKAG2 G A 1 . . MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854 Glycogen_storage_disease_of_heart,_lethal_congenital Likely_benign . synonymous_SNV exonic . . 1.288e-05 . 4 +chr7 151372719 PRKAG2 G A 1 . . MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736 Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0003 synonymous_SNV exonic . 0.0002 0.0003 0.0004 2 +chr7 151478445 PRKAG2 T G 1 . 4.607 . . . . nonsynonymous_SNV exonic D . . . 7 +chr7 151478457 PRKAG2 G A 1 0.000199681 -0.304 MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736 Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype Likely_benign 0.0006 nonsynonymous_SNV exonic T 0.0007 0.0005 0.0003 0 +chr7 151483619 PRKAG2 G A 1 . . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736|MedGen:CN239247 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Conflicting_interpretations_of_pathogenicity 0.0002 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . . 9.083e-05 0 2 +chr7 151573580 PRKAG2 G A 19 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 +chr7 151573731 PRKAG2 G A 22 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 +chr8 11566020 GATA4 T G 2 . -1.537 . . . . nonsynonymous_SNV exonic D . . . 7 +chr8 11566237 GATA4 C A 1 . 1.025 . . . . nonsynonymous_SNV exonic D . . . 7 +chr8 11566283 GATA4 C T 1 0.000399361 . MedGen:C3280781,OMIM:614430|MedGen:CN230736 Atrioventricular_septal_defect_4|Cardiovascular_phenotype Benign/Likely_benign 0.0030 synonymous_SNV exonic . . 0.0030 0.0037 0 +chr8 11566452 GATA4 G A 1 . . . . . 0.0004 . intronic . . 0.0003 6.685e-05 2 +chr8 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 4 +chr8 11607768 GATA4 C T 1 0.000199681 . . . . 0.0004 . intronic . 0.0005 0.0005 0.0005 0 +chr8 11614469 GATA4 T C 1 0.00758786 . MedGen:C3280781,OMIM:614430|MedGen:CN230736 Atrioventricular_septal_defect_4|Cardiovascular_phenotype Benign 3.004e-05 synonymous_SNV exonic . . 6.274e-05 0.0001 0 +chr8 11614575 GATA4 A G 32 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 -2 +chr8 74888616 TMEM70 G C 47 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 -2 +chr8 74890960 TMEM70 TA TG 2 . . . . . . . intronic\x3bintronic . . . . 4 +chr8 74890961 TMEM70 A G 94 0.477835 . . . . 0.4598 . intronic\x3bintronic . 0.4551 0.4526 0.4510 -2 +chr8 74890961 TMEM70 A G 20 0.477835 . . . . 0.4598 . intronic\x3bintronic . 0.4551 0.4526 0.4510 -2 +chr8 74893419 TMEM70 C G 7 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 -2 +chr8 74893653 TMEM70 G A 3 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 -2 +chr8 74893757 TMEM70 C G 1 0.00479233 0.610 MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN517202 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|not_provided Benign/Likely_benign 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0002 0.0002 0 +chr8 74893821 TMEM70 A G 55 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 -2 +chr8 74893850 TMEM70 C G 55 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 -2 +chr9 7161999 KDM4C A C 7 0.00599042 . . . . . . intronic . . . 0.0156 8 +chr9 7162001 KDM4C CTT CT 1 . . . . . . . intronic . . . . 4 +chr9 7162074 KDM4C A C 6 0.0061901 . . . . . . intronic . . . 0.0125 8 +chr9 7162351 KDM4C G A 76 0.126797 . . . . . . intronic . . . 0.1872 -2 +chr9 71650692 FXN G A 4 0.00758786 . MedGen:CN169374 not_specified Benign 0.0265 . UTR5 . . 0.0325 0.0291 -2 +chr9 71650711 FXN G A 1 . 2.084 . . . . nonsynonymous_SNV exonic T . . . 4 +chr9 71650752 FXN A G 230 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 -2 +chr9 71668197 FXN T C 141 0.501597 . . . . 0.5290 . intronic . 0.5149 0.5285 0.5132 -2 +chr9 71679993 FXN A G 1 0.00998403 . . . . 0.0001 . intronic\x3bintronic . 0.0001 0.0001 0.0001 0 +chr9 71714764 FXN T C 3 . . . . . . . intronic . . . 0.0003 8 +chr9 103348208 MURC A T 6 0.117812 . MedGen:CN169374 not_specified Benign 0.0238 synonymous_SNV exonic . 0.0236 0.0238 0.0218 -2 +chr9 103348319 MURC C T 2 . . . . . 1.499e-05 synonymous_SNV exonic . . 8.977e-06 . 4 +chr9 103348352 MURC A C 1 . . MedGen:CN169374 not_specified Likely_benign 6.059e-05 synonymous_SNV exonic . 0.0001 6.33e-05 . 4 +chr9 103348609 MURC C G 1 . -0.366 . . . 0.0001 nonsynonymous_SNV exonic T . 3.585e-05 0 4 +chr9 103348634 MURC G A 66 0.293331 . MedGen:CN169374 not_specified Benign 0.4040 synonymous_SNV exonic . 0.4166 0.4052 0.4264 -2 +chr9 108363420 FKTN A G 7 0.00499201 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374 Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified Benign/Likely_benign 0.0202 . intronic . 0.0122 0.0125 0.0117 -2 +chr9 108363426 FKTN C T 6 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 8 +chr9 108366499 FKTN G A 4 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 -2 +chr9 108366734 FKTN G A 51 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 +chr9 108377702 FKTN G A 7 0.00499201 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0135 . intronic . 0.0124 0.0127 0.0117 -2 +chr9 108380223 FKTN T A 1 0.000399361 . . . . 0.0002 . intronic . . 0.0001 . 2 +chr9 108380352 FKTN G A 1 . . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0007 synonymous_SNV exonic . 0.0003 0.0004 0.0012 0 +chr9 108380355 FKTN C A 51 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 -6 +chr9 108397495 FKTN A G 7 0.00519169 4.689 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0135 nonsynonymous_SNV exonic T 0.0124 0.0127 0.0118 -2 +chr9 131708133 DOLK T C 1 0.00319489 0.428 MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374 Congenital_disorder_of_glycosylation_type_1M|not_specified Benign 0.0007 nonsynonymous_SNV exonic T 0.0007 0.0007 0.0009 0 +chr9 131709581 DOLK ATA ATTA 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 -2 +chrX 31165400 DMD G A 2 0.0018543 . MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0070 synonymous_SNV exonic . 0.0073 0.0073 0.0078 4 +chrX 31191631 DMD G T 2 . . . . . 2.118e-05 . intronic . . 2.53e-05 . 4 +chrX 31198469 DMD G T 2 . . . . . 2.139e-05 . intronic . . 1.257e-05 . 4 +chrX 31200830 DMD ACATTTTTTTTTTGGTTCC ACATTTTTTTTTTTGGTTCC,CCATTTTTTTTTTGGTTCC 2 . . . . . . . intronic . . . . 4 +chrX 31200831 DMD CATTTTTTTTTTGGTTCC CATTTTTTTTTTTGGTTCC,AATTTTTTTTTTGGTTCC 2 . . . . . . . intronic . . . . 4 +chrX 31200832 DMD ATTTTTTTTTTGGTTCC ATTTTTTTTTGGTTCC,ATTTTTTTTTTTGGTTCC,ATTTTTTTTTTTTGGTTCC,ATTTTTTTTTTGGTTCA 2 . . . . . . . intronic . . . . 4 +chrX 31224684 DMD A G 203 0.803974 . MedGen:C3668940,OMIM:302045|MedGen:CN169374 Dilated_cardiomyopathy_3B|not_specified Benign/Likely_benign 0.9039 . intronic . 0.8793 0.8838 0.8864 -6 +chrX 31496350 DMD C T 214 0.881854 2.138 MedGen:CN169374 not_specified Benign 0.9459 nonsynonymous_SNV exonic T 0.9392 0.9407 0.9457 -2 +chrX 31496398 DMD T C 6 0.0148344 -0.113 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0340 nonsynonymous_SNV exonic T 0.0297 0.0330 0.0318 2 +chrX 31496426 DMD T C 2 0.0370861 1.799 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0117 nonsynonymous_SNV exonic T 0.0085 0.0102 0.0117 2 +chrX 31496431 DMD T A 2 0.0357616 5.718 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0117 nonsynonymous_SNV exonic T 0.0085 0.0101 0.0119 5 +chrX 31645860 DMD T C 1 . 2.162 MedGen:CN169374 not_specified Conflicting_interpretations_of_pathogenicity 0.0002 nonsynonymous_SNV exonic T . 0.0001 . 2 +chrX 31676096 DMD G A 68 0.328477 . MedGen:C3668940,OMIM:302045|MedGen:CN169374 Dilated_cardiomyopathy_3B|not_specified Benign/Likely_benign 0.3496 . intronic . 0.3511 0.3465 0.3714 -6 +chrX 31697636 DMD A G 41 0.181192 . MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1871 synonymous_SNV exonic . 0.2027 0.1943 0.1815 -6 +chrX 31792291 DMD G A 2 . 2.709 . . . . nonsynonymous_SNV exonic T . . . 4 +chrX 31893307 DMD T G 38 0.183311 1.905 MedGen:CN169374 not_specified Benign 0.2685 . splicing T 0.2178 0.2076 0.2224 6 +chrX 31947797 DMD G A 1 0.000529801 . MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374 Duchenne_muscular_dystrophy|not_specified Benign 0.0008 synonymous_SNV exonic . 0.0009 0.0008 0.0002 0 +chrX 31986499 DMD G A 3 . 6.561 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic T 0.0004 0.0003 0 7 +chrX 31986586 DMD A G 1 . . . . . 4.203e-05 synonymous_SNV exonic . . 3.778e-05 . 4 +chrX 31986587 DMD T C 1 . . MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001 Duchenne_muscular_dystrophy Benign 0.0001 synonymous_SNV exonic . . 6.296e-05 . 4 +chrX 31986607 DMD G A 9 0.0129801 5.113 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0393 nonsynonymous_SNV exonic T 0.0378 0.0410 0.0404 -3 +chrX 32380996 DMD C T 109 0.465166 6.788 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4823 nonsynonymous_SNV exonic T 0.4770 0.4775 0.4730 -3 +chrX 32383302 DMD C T 1 . . . . . . synonymous_SNV exonic . . . . 4 +chrX 32408311 DMD T C 17 0.0336424 . MedGen:C3668940,OMIM:302045|MedGen:CN169374 Dilated_cardiomyopathy_3B|not_specified Benign/Likely_benign 0.0806 . intronic . 0.0779 0.0740 0.0821 -6 +chrX 32430155 DMD C G 1 . . . . . . nonsynonymous_SNV exonic . . . . 4 +chrX 32459449 DMD A G 2 0.0010596 . MedGen:CN169374 not_specified Benign 0.0104 . intronic . 0.0089 0.0099 0.0107 -2 +chrX 32466625 DMD G A 2 0.00847682 1.559 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0082 nonsynonymous_SNV exonic T 0.0109 0.0090 0.0105 -6 +chrX 32472763 DMD CTTTTTTTTTTTTTA CTTTTTTTTTTTTTTA,CTTTTTTTTTTTTA 2 . . MedGen:CN169374 not_specified Benign 0.0578 . intronic . 0.1409 0.0768 0.0021 -2 +chrX 32482710 DMD T A 2 . 4.932 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374 Duchenne_muscular_dystrophy|not_specified Conflicting_interpretations_of_pathogenicity 0.0001 nonsynonymous_SNV exonic T . 0.0001 9.445e-05 4 +chrX 32486625 DMD C T 2 . 4.716 . . . 0.0001 nonsynonymous_SNV exonic T . 5.594e-05 . 4 +chrX 32486681 DMD G C 2 . . MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374 Duchenne_muscular_dystrophy|not_specified Likely_benign 5.042e-05 synonymous_SNV exonic . . 7.619e-05 9.469e-05 4 +chrX 32486703 DMD A G 1 . 0.522 . . . . nonsynonymous_SNV exonic T . . . 4 +chrX 32486756 DMD C T 3 0.00874172 . MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign 0.0190 synonymous_SNV exonic . 0.0166 0.0202 0.0178 -2 +chrX 32503114 DMD C T 2 . 5.122 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001 Duchenne_muscular_dystrophy Uncertain_significance . nonsynonymous_SNV exonic T . . . 7 +chrX 32503194 DMD T C 153 0.748344 0.631 MedGen:CN169374 not_specified Benign 0.6644 nonsynonymous_SNV exonic T 0.6629 0.6613 0.6750 -2 +chrX 32519981 DMD G A 1 . . . . . . . intronic . . . . 4 +chrX 32563263 DMD A G 64 0.412185 . MedGen:C3668940,OMIM:302045|MedGen:CN169374 Dilated_cardiomyopathy_3B|not_specified Benign/Likely_benign 0.2441 . intronic . 0.2398 0.2317 0.2242 -6 +chrX 32591931 DMD T C 34 0.110464 . MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1329 synonymous_SNV exonic . 0.1225 0.1272 0.1269 -6 +chrX 32613880 DMD T A 2 . 3.637 . . . . nonsynonymous_SNV exonic T . . . 4 +chrX 32632565 DMD T C 2 . 4.518 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic T 0.0001 0.0002 0 6 +chrX 32663135 DMD T G 2 . 4.306 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic T 0.0009 0.0006 0.0005 0 +chrX 32716132 DMD GG TC 4 . . . . . . . intronic . . . . 8 +chrX 32717331 DMD C A 2 . . . . . . synonymous_SNV exonic . . . . 4 +chrX 32867945 DMD TAAAAAAAATACACT TAAAAAAAAATACACT 31 0.0762914 . MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374 Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified Benign/Likely_benign 0.1149 . intronic . 0.1180 0.1074 0.1141 -6 +chrX 100653950 na T C 15 0.16106 . MedGen:CN169374 not_specified Benign 0.1191 . intronic . 0.1205 0.1202 0.1226 -2 +chrX 100662901 GLA G A 5 0.124503 . Human_Phenotype_Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED_CT:16652001|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202 Fabry_disease|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided Benign 0.0594 . UTR5 . 0.0605 0.0593 0.0609 -2 +chrX 100662903 GLA C T,A 5 . . . . . . . UTR5 . . . . 12 +chrX 108868153 KCNE5 G A 33 0.0519205 -2.020 . . . 0.1836 nonsynonymous_SNV exonic T 0.1424 0.1677 0.1475 -2 +chrX 119576455 LAMP2 G A 13 0.013245 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0407 synonymous_SNV exonic . 0.0407 0.0401 0.0402 -2 +chrX 119580269 LAMP2 A C 1 0.000529801 3.794 MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736 Danon_disease|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0016 nonsynonymous_SNV exonic T 0.0025 0.0019 0.0013 0 +chrX 119581846 LAMP2 C T 1 . . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0002 synonymous_SNV exonic . 0.0001 0.0003 0.0002 2 +chrX 119589372 LAMP2 A C 2 . 4.499 . . . . nonsynonymous_SNV exonic T . . . 4 +chrX 119590530 LAMP2 GCGT GCGA 2 . . . . . . frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion exonic\x3bexonic\x3bexonic . . . . 4 +chrX 119590531 LAMP2 CGT CGA,AGT 2 . 0.281 . . . . nonsynonymous_SNV exonic T . . . 4 +chrX 119590532 LAMP2 GT GA 2 . . . . . . frameshift_deletion\x3bframeshift_deletion\x3bframeshift_deletion exonic\x3bexonic\x3bexonic . . . . 4 +chrX 119590533 LAMP2 T A 104 0.380927 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4528 synonymous_SNV exonic . 0.4261 0.4100 0.4223 -2 +chrX 119603038 LAMP2 AGGCGGCGACGGCGGCGACG AGGCGGCGACG 4 . . . . . . . UTR5 . . . . 8 +chrX 135292012 FHL1 CTTTTTTTTTCCCCCCA CTTTTTTTTTTCCCCCA,ATTTTTTTTTCCCCCCA 4 . . . . . . . intronic\x3bintronic . . . . 8 +chrX 135292017 FHL1 T C 1 0.00688742 . MedGen:CN169374 not_specified Benign 0.0165 . intronic . 0.0036 0.0194 0.0179 -2 +chrX 135292021 FHL1 TCCCCCCAG TTCCCCCAG 4 0.519735 . MedGen:C2678055,OMIM:300696,Orphanet:ORPHA178461|MedGen:C2678061,OMIM:300695,Orphanet:ORPHA431272|MedGen:CN169374 Myopathy_with_postural_muscle_atrophy,_X-linked|Scapuloperoneal_myopathy,_X-linked_dominant|not_specified Benign 0.4981 . intronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic\x3bintronic . 0.4397 0.5134 0.5799 -2 +chrX 135292022 FHL1 CC TC,AC 4 . . . . . . . intronic\x3bintronic . . . . 8 +chrX 135292022 FHL1 CC TC,AC 4 . . . . . . . intronic\x3bintronic . . . . 8 +chrX 153608120 EMD C A 2 0.000529801 . . . . 0 synonymous_SNV exonic . . 0 9.799e-05 0 +chrX 153609297 EMD CCTG CG 2 . . . . . . frameshift_deletion exonic . . . . 4 +chrX 153640156 TAZ A C 1 . . . . . . . UTR5 . . . . 4 +chrX 153640405 DNASE1L1 CC CT 2 . . . . . . . UTR5 . . . . 4 +chrX 153640406 DNASE1L1 C T 48 0.0649007 . MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED_CT:297231002|MedGen:CN169374 3-Methylglutaconic_aciduria_type_2|not_specified Conflicting_interpretations_of_pathogenicity 0.3080 . UTR5 . 0.2477 0.2524 0.2525 -2 +chrX 153641619 TAZ C T 5 0.00450331 . . . . 0.0100 . intronic . 0.0089 0.0089 0.0057 8 +chrX 153642450 TAZ T C 1 0.0164238 -0.706 Human_Phenotype_Ontology:HP:0001706,MedGen:C0014117,OMIM:226000,Orphanet:ORPHA2022,SNOMED_CT:65457005|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED_CT:297231002|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Endocardial_fibroelastosis|Left_ventricular_noncompaction_cardiomyopathy|3-Methylglutaconic_aciduria_type_2|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 9.151e-05 nonsynonymous_SNV exonic D 0.0001 0.0001 0 -3 +chrX 153648515 TAZ C T 1 . 2.109 . . . 0.0003 . intronic D 0.0001 0.0003 0.0007 2 +chrX 153649337 TAZ G A 1 0.0015894 . Human_Phenotype_Ontology:HP:0001706,MedGen:C0014117,OMIM:226000,Orphanet:ORPHA2022,SNOMED_CT:65457005|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED_CT:297231002|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Endocardial_fibroelastosis|Left_ventricular_noncompaction_cardiomyopathy|3-Methylglutaconic_aciduria_type_2|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0066 synonymous_SNV exonic . 0.0068 0.0060 0.0051 -4
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/test_DCM.csv Tue Jun 09 16:15:40 2020 +0000 @@ -0,0 +1,1148 @@ +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 Score +1 3102754 PRDM16 G A 1 . 3.281 . . . 0 nonsynonymous_SNV exonic T . 9.053e-06 . 4 +1 3301721 PRDM16 C T 19 0.340455 . MedGen:CN169374 not_specified Benign 0.2706 synonymous_SNV exonic . 0.2668 0.2715 0.2782 -2 +1 3301802 PRDM16 G C 1 . . . . . 6.047e-05 synonymous_SNV exonic . . 4.479e-05 6.668e-05 4 +1 3328358 PRDM16 T C 70 0.945088 -0.543 MedGen:CN169374 not_specified Benign 0.8404 nonsynonymous_SNV exonic T 0.8356 0.8350 0.8459 -2 +1 3328659 PRDM16 C T 22 0.10603 3.424 MedGen:CN169374 not_specified Benign 0.1636 nonsynonymous_SNV exonic T 0.1516 0.1563 0.1406 -2 +1 3328915 PRDM16 G A 2 . . MedGen:CN169374 not_specified Likely_benign 6.018e-05 synonymous_SNV exonic . . 7.19e-05 6.686e-05 4 +1 3329213 PRDM16 G A 1 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 0 +1 3331193 PRDM16 G A 1 0.0179712 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign 0.0002 synonymous_SNV exonic . 0.0006 9.231e-05 6.691e-05 -2 +1 3342307 PRDM16 C T 1 0.00159744 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign 0.0021 synonymous_SNV exonic . 0.0020 0.0018 0.0011 0 +1 11906068 NPPA A G 9 0.179113 1.595 MedGen:CN169374 not_specified Benign 0.1343 stoploss exonic . 0.1552 0.1405 0.1399 -2 +1 11907430 NPPA T G 1 0.000599042 -0.738 MedGen:C2677294,OMIM:612201 Atrial_fibrillation,_familial,_6 Likely_benign 0.0028 nonsynonymous_SNV exonic T 0.0028 0.0029 0.0025 0 +1 26385003 TRIM63 T C 19 0.182308 1.211 . . . 0.2195 nonsynonymous_SNV exonic T 0.2165 0.2175 0.1920 -2 +1 26392785 TRIM63 G A 1 0.000599042 . . . . 6.004e-05 synonymous_SNV exonic . 0.0001 7.166e-05 0 0 +1 26392798 TRIM63 A T 1 . 7.079 . . . 1.501e-05 nonsynonymous_SNV exonic T . 1.792e-05 . 7 +1 26392824 TRIM63 C A 5 0.0183706 . . . . 0.0801 synonymous_SNV exonic . 0.0844 0.0864 0.1033 -2 +1 26393851 TRIM63 C G 1 0.00279553 . . . . 0.0087 synonymous_SNV exonic . 0.0073 0.0082 0.0099 0 +1 74929170 na T C 1 0.0209665 4.228 . . . 0.0060 nonsynonymous_SNV exonic D 0.0037 0.0050 0.0046 1 +1 78383653 NEXN A C 1 . 0.790 . . . . nonsynonymous_SNV exonic T . . . 4 +1 78392446 NEXN G A 12 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 +1 78408536 NEXN C G 5 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 -6 +1 112319658 KCND3 G C 1 . 2.131 MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance 1.5e-05 nonsynonymous_SNV exonic D . 5.388e-05 . 7 +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 +1 112525085 KCND3 G A 8 0.0471246 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1233 synonymous_SNV exonic . 0.1205 0.1253 0.1178 -2 +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 116243868 CASQ2 A G 6 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 -2 +1 116243877 CASQ2 G A 45 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 -2 +1 116310937 CASQ2 C T 1 0.0303514 4.845 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/Likely_benign 0.0023 nonsynonymous_SNV exonic T 0.0007 0.0014 0.0025 -2 +1 116310967 CASQ2 T C 28 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 -2 +1 147230978 GJA5 G A 2 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 +1 156084760 LMNA C T 5 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 -6 +1 156096532 LMNA C T 1 0.00179712 . . . . . . UTR5 . . . 0.0020 0 +1 156104292 LMNA G A 1 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 -4 +1 156104981 LMNA G A 1 . 5.091 . . . . nonsynonymous_SNV exonic D . . . 10 +1 156105028 LMNA T C 9 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 -10 +1 156106185 LMNA T C 9 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 -10 +1 156107534 LMNA C T 25 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 exonic . 0.2531 0.2649 0.2486 -10 +1 156107534 LMNA C T 25 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 exonic . 0.2531 0.2649 0.2486 -10 +1 156108976 LMNA G C 9 0.185304 . MedGen:CN517202 not_provided not_provided . . UTR3 . 0.0773 . 0.0708 -2 +1 156108976 LMNA G C 9 0.185304 . MedGen:CN517202 not_provided not_provided . . UTR3 . 0.0773 . 0.0708 -2 +1 156109536 LMNA G A 1 0.00319489 . . . . 0.0189 . UTR3 . . 0.0141 0.0106 -2 +1 162313735 NOS1AP C T 29 0.430911 . . . . 0.3647 synonymous_SNV exonic . 0.3571 0.3580 0.3632 -2 +1 162325040 NOS1AP C T 1 . 3.778 . . . 1.499e-05 nonsynonymous_SNV exonic T . 1.79e-05 . 4 +1 162335256 NOS1AP C T 19 0.250799 . . . . 0.1195 synonymous_SNV exonic . 0.1199 0.1169 0.1075 -2 +1 162335256 NOS1AP C T 19 0.250799 . . . . 0.1195 synonymous_SNV exonic . 0.1199 0.1169 0.1075 -2 +1 201330429 TNNT2 T C 1 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 -6 +1 201334382 TNNT2 G A 55 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 -6 +1 201334795 TNNT2 C T 4 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 -6 +1 201335899 TNNT2 C T 84 0.98143 . . . . . . intronic . 0.9991 . 0.9994 -2 +1 227069677 PSEN2 T C 62 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 -6 +1 227069737 PSEN2 C T 48 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 -6 +1 227071449 PSEN2 G A 2 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 +1 227071525 PSEN2 C T 48 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 -6 +1 227076719 PSEN2 G C 1 0.00239617 . MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Uncertain_significance 0.0078 synonymous_SNV exonic . 0.0041 0.0064 0.0063 0 +1 228399766 OBSCN T C 52 0.726238 . . . . 0.6233 synonymous_SNV exonic . 0.6178 0.6077 0.6101 -2 +1 228399799 OBSCN C T 1 0.0507188 . . . . 0.0482 synonymous_SNV exonic . 0.037 0.0415 0.0477 -2 +1 228402047 OBSCN A G 53 0.719848 . . . . 0.6132 synonymous_SNV exonic . 0.6095 0.6117 0.6098 -2 +1 228402121 OBSCN A G 53 0.719649 3.331 . . . 0.6122 nonsynonymous_SNV exonic T 0.6065 0.6117 0.6104 -2 +1 228402508 OBSCN C T 31 0.275759 . . . . 0.4016 synonymous_SNV exonic . 0.3900 0.3857 0.3888 -2 +1 228404198 OBSCN G A 2 0.0535144 . . . . 0.0822 synonymous_SNV exonic . 0.0367 0.0404 0.0461 -2 +1 228404368 OBSCN G A 1 0.000998403 0.297 . . . 0.0061 nonsynonymous_SNV exonic T 0.0019 0.0030 0.0017 0 +1 228404730 OBSCN G A 1 . . . . . 3.106e-05 synonymous_SNV exonic . . 9.059e-06 . 4 +1 228404763 OBSCN C T 1 0.0177716 . . . . 0.0003 synonymous_SNV exonic . 0.0004 0.0002 6.67e-05 -2 +1 228407059 OBSCN G T 2 0.0135783 . . . . 0.0377 synonymous_SNV exonic . . 0.0369 0.0370 -2 +1 228407260 OBSCN G A 31 0.277157 . . . . 0.4158 synonymous_SNV exonic . . 0.3813 0.3852 -2 +1 228412197 OBSCN C T 1 0.0377396 . . . . 0.0003 synonymous_SNV exonic . 0.0005 0.0003 0.0004 -2 +1 228412227 OBSCN TG CA 32 . . . . . . nonframeshift_substitution exonic . . . . 12 +1 228412308 OBSCN G A 32 0.41254 . . . . 0.3933 synonymous_SNV exonic . 0.3925 0.3930 0.3944 -2 +1 228431095 OBSCN A G 58 0.616613 . . . . 0.6797 synonymous_SNV exonic . 0.6828 0.6767 0.6910 -2 +1 228432264 OBSCN A T 3 0.0171725 0.066 . . . 0.0425 nonsynonymous_SNV exonic T 0.0401 0.0419 0.0395 -2 +1 228433217 OBSCN A G 58 0.616613 . . . . 0.6794 synonymous_SNV exonic . 0.6825 0.6768 0.6913 -2 +1 228434395 OBSCN T C 58 0.617612 . . . . 0.6794 synonymous_SNV exonic . 0.6833 0.6768 0.6906 -2 +1 228434467 OBSCN T C 58 0.66254 . . . . 0.6802 synonymous_SNV exonic . 0.6824 0.6773 0.6917 -2 +1 228434477 OBSCN C T 1 0.000798722 2.479 . . . 0.0001 nonsynonymous_SNV exonic T . 9.016e-05 0.0001 0 +1 228437748 OBSCN C T 1 0.0383387 . . . . 0.0004 synonymous_SNV exonic . 0.0005 0.0003 0.0004 -2 +1 228444410 OBSCN G A 1 . . . . . 1.507e-05 synonymous_SNV exonic . . 2.692e-05 . 4 +1 228444565 OBSCN T A 84 1 0.030 . . . 1 nonsynonymous_SNV exonic T . 1 1 -2 +1 228447271 OBSCN C T 1 . 2.725 . . . . nonsynonymous_SNV exonic T . 8.958e-06 . 4 +1 228451826 OBSCN C T 25 0.30631 0.352 . . . 0.2922 nonsynonymous_SNV exonic T 0.2810 0.2892 0.3003 -2 +1 228452016 OBSCN G C 1 0.00399361 -1.319 . . . 0.0190 nonsynonymous_SNV exonic T 0.0195 0.0186 0.0189 -2 +1 228456382 OBSCN A C 1 0.000599042 2.981 . . . 0.0030 nonsynonymous_SNV exonic T 0.0020 0.0030 0.0014 0 +1 228459745 OBSCN C G 1 . 1.739 . . . . nonsynonymous_SNV exonic T . . . 4 +1 228461129 OBSCN A G 55 0.69349 -0.541 . . . 0.6973 nonsynonymous_SNV exonic T 0.6953 0.6933 0.7098 -2 +1 228461239 OBSCN C T 2 0.00399361 0.058 . . . 0.0084 nonsynonymous_SNV exonic T 0.0109 0.0095 0.0086 -2 +1 228461900 OBSCN G A 1 0.000399361 1.422 . . . 0.0003 nonsynonymous_SNV exonic T . 0.0003 6.671e-05 2 +1 228462020 OBSCN G A 1 . 4.306 . . . 6.098e-05 nonsynonymous_SNV exonic T 0.0001 6.295e-05 6.676e-05 4 +1 228464232 OBSCN C T 1 . 6.226 . . . 0.0002 nonsynonymous_SNV exonic T . 0.0001 0.0001 5 +1 228464248 OBSCN T G 56 0.695487 -0.460 . . . 0.6998 nonsynonymous_SNV exonic T 0.6965 0.6944 0.7121 -2 +1 228464255 OBSCN T C 1 0.00259585 4.777 . . . 0.0115 nonsynonymous_SNV exonic T 0.0109 0.0105 0.0102 -2 +1 228464276 OBSCN T C 56 0.663538 -0.742 . . . 0.6993 nonsynonymous_SNV exonic T 0.6960 0.6931 0.7115 -2 +1 228464303 OBSCN G T 1 0.00459265 1.771 . . . 0.0290 nonsynonymous_SNV exonic T 0.0278 0.0253 0.0274 -2 +1 228464398 OBSCN G A 1 . . . . . . synonymous_SNV exonic . . . . 4 +1 228464633 OBSCN C G 2 0.00299521 2.771 . . . 0.0069 nonsynonymous_SNV exonic T 0.0026 0.0010 0.0007 0 +1 228464713 OBSCN G A 1 . . . . . 0.0004 synonymous_SNV exonic . 0.0005 0.0001 6.688e-05 0 +1 228465346 OBSCN A G 33 0.330072 3.591 . . . 0.5114 nonsynonymous_SNV exonic . . 0.3862 0.3808 -2 +1 228468458 OBSCN G A 26 0.31889 1.572 . . . 0.3115 nonsynonymous_SNV exonic T 0.2785 0.3061 0.3193 -2 +1 228469801 OBSCN G C 1 0.0111821 5.043 . . . 0.0216 nonsynonymous_SNV exonic T 0.0219 0.0211 0.0214 1 +1 228470906 OBSCN C T 1 . . . . . 0.0004 synonymous_SNV exonic . 0.0001 0.0001 . 2 +1 228471379 OBSCN G C 29 0.230232 . . . . 0.3727 synonymous_SNV exonic . 0.3681 0.3719 0.3705 -2 +1 228474032 OBSCN G A 2 0.00958466 . . . . 0.0081 synonymous_SNV exonic . 0.0028 0.0012 0.0009 0 +1 228475594 OBSCN G A 1 0.00119808 . . . . 0.0028 synonymous_SNV exonic . 0.0036 0.0037 0.0049 0 +1 228475848 OBSCN G A 26 0.302716 4.107 . . . 0.3041 nonsynonymous_SNV exonic T 0.2973 0.3017 0.3168 -2 +1 228476389 OBSCN C T 1 0.000199681 3.907 . . . 0.0001 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0001 2 +1 228480282 OBSCN A G 56 0.698882 . . . . 0.7029 synonymous_SNV exonic . 0.7022 0.6999 0.7148 -2 +1 228480441 OBSCN G A 2 0.00958466 . . . . 0.0030 synonymous_SNV exonic . 0.0032 0.0012 0.0009 0 +1 228482010 OBSCN C T 43 0.381989 . . . . 0.4961 synonymous_SNV exonic . 0.4953 0.497 0.5212 -2 +1 228482028 OBSCN G C 13 0.21246 . . . . 0.1837 synonymous_SNV exonic . 0.1766 0.1808 0.1697 -2 +1 228482569 OBSCN G A 7 0.0127796 . . . . 0.0324 synonymous_SNV exonic . 0.0324 0.0338 0.0346 -2 +1 228486404 OBSCN C T 12 0.165935 0.548 . . . 0.1816 nonsynonymous_SNV exonic T 0.1788 0.1769 0.1673 -2 +1 228487800 OBSCN G A 1 . . . . . 4.687e-05 synonymous_SNV exonic . . 4.549e-05 6.67e-05 4 +1 228491633 OBSCN G A 2 0.052516 0.427 . . . 0.0391 nonsynonymous_SNV exonic T 0.0397 0.0372 0.0372 -2 +1 228492044 OBSCN G A 43 0.369209 . . . . 0.4986 synonymous_SNV exonic . 0.4905 0.4974 0.5219 -2 +1 228494144 OBSCN T G 1 . 3.953 . . . 0.0008 nonsynonymous_SNV exonic T 0.0006 0.0008 0.0007 0 +1 228494696 OBSCN G A 13 0.308506 . . . . 0.2636 synonymous_SNV exonic . 0.1945 0.2031 0.1925 -2 +1 228494790 OBSCN G A 42 0.26857 2.944 . . . 0.4976 nonsynonymous_SNV exonic T 0.4939 0.4972 0.5210 -2 +1 228495222 OBSCN C T 1 . . . . . . synonymous_SNV exonic . . . . 4 +1 228496014 OBSCN G A 13 0.213059 . . . . 0.2152 synonymous_SNV exonic . 0.1772 0.1819 0.1705 -2 +1 228496066 OBSCN G T 2 0.00638978 4.677 . . . 0.0628 nonsynonymous_SNV exonic T 0.0313 0.0418 0.0431 -2 +1 228503567 OBSCN G A 1 0.038738 . . . . 0.0003 synonymous_SNV exonic . 0.0005 0.0002 0.0004 -2 +1 228503677 OBSCN A G 55 0.700879 -2.279 . . . 0.7111 nonsynonymous_SNV exonic T 0.7056 0.6950 0.7144 -2 +1 228503711 OBSCN G A 6 0.0129792 . . . . 0.0523 synonymous_SNV exonic . 0.0327 0.0380 0.0432 -2 +1 228504472 OBSCN T C 55 0.699281 -1.304 . . . 0.7040 nonsynonymous_SNV exonic T 0.7008 0.6982 0.7147 -2 +1 228504505 OBSCN G A 1 . 3.639 . . . 3.778e-05 nonsynonymous_SNV exonic T . 2.794e-05 0 4 +1 228504507 OBSCN G T 3 0.00499201 . . . . 0.0256 synonymous_SNV exonic . 0.0203 0.0220 0.0176 -2 +1 228504591 OBSCN C A 13 0.145367 1.476 . . . 0.2674 nonsynonymous_SNV exonic T 0.1672 0.1833 0.1681 -2 +1 228504669 OBSCN G A 13 0.145567 . . . . 0.2135 synonymous_SNV exonic . 0.1453 0.1818 0.1725 -2 +1 228504670 OBSCN C T 41 0.330272 3.693 . . . 0.5071 nonsynonymous_SNV exonic T 0.4398 0.4992 0.5236 -2 +1 228505204 OBSCN G A 13 0.315296 3.357 . . . 0.2095 nonsynonymous_SNV exonic T 0.1944 0.2031 0.1924 -2 +1 228505668 OBSCN C G 55 0.699281 0.755 . . . 0.7027 nonsynonymous_SNV exonic T 0.7016 0.6997 0.7146 -2 +1 228505699 OBSCN T C 55 0.705871 . . . . 0.7045 synonymous_SNV exonic . 0.7008 0.7007 0.7147 -2 +1 228505725 OBSCN A C 1 0.000399361 3.123 . . . 0.0018 nonsynonymous_SNV exonic T 0.0009 0.0007 0.0005 0 +1 228505739 OBSCN G A 13 0.173123 0.313 . . . 0.1804 nonsynonymous_SNV exonic T 0.1735 0.1780 0.1681 -2 +1 228506661 OBSCN G A 1 0.0107827 . . . . 0.0592 synonymous_SNV exonic . 0.0230 0.0234 0.0184 -2 +1 228506912 OBSCN T C 2 0.00419329 5.630 . . . 0.0138 nonsynonymous_SNV exonic T 0.0102 0.0102 0.0089 1 +1 228509367 OBSCN G A 1 0.000199681 6.644 . . . 0.0003 nonsynonymous_SNV exonic T 0.0002 0.0003 0.0001 5 +1 228509427 OBSCN A G 55 0.684704 -0.311 . . . 0.7021 nonsynonymous_SNV exonic T 0.6968 0.6995 0.7147 -2 +1 228520973 OBSCN C G 36 0.335064 1.995 . . . 0.4651 nonsynonymous_SNV exonic T 0.4179 0.4187 0.4485 -2 +1 228520995 OBSCN G A 2 0.00419329 4.051 . . . 0.0127 nonsynonymous_SNV exonic T 0.0098 0.0100 0.0088 -2 +1 228524961 OBSCN C A 35 0.239816 . . . . 0.4306 synonymous_SNV exonic . 0.4226 0.4274 0.4482 -2 +1 228525008 OBSCN G A 11 0.0766773 4.879 . . . 0.1499 nonsynonymous_SNV exonic T 0.1356 0.1403 0.1305 -2 +1 228526011 OBSCN C T 12 0.117612 . . . . 0.1745 synonymous_SNV exonic . 0.1578 0.1490 0.1545 -2 +1 228526614 OBSCN G A 1 . . . . . 0.0013 synonymous_SNV exonic . 0.0007 0.0009 0.0007 0 +1 228526665 OBSCN T C 42 0.494409 . . . . 0.5318 synonymous_SNV exonic . 0.5569 0.5179 0.5447 -2 +1 228528563 OBSCN C G 41 0.538738 0.194 . . . 0.5577 nonsynonymous_SNV exonic T 0.5203 0.5185 0.5473 -2 +1 228547901 OBSCN C T 29 0.298722 . . . . 0.2981 synonymous_SNV exonic . 0.3011 0.2996 0.2846 -2 +1 228548197 OBSCN G A 6 0.147764 -0.089 . . . 0.0996 nonsynonymous_SNV exonic T 0.0857 0.0907 0.0958 -2 +1 228548360 OBSCN G A 1 0.00199681 . . . . 0.0047 synonymous_SNV exonic . 0.0055 0.0047 0.0054 0 +1 228550344 OBSCN G A 1 0.000199681 . . . . 0.0008 synonymous_SNV exonic . 0.0007 0.0007 0.0005 0 +1 228550426 OBSCN C T 6 0.146965 -0.124 . . . 0.1364 nonsynonymous_SNV exonic T 0.0834 0.0910 0.0959 -2 +1 228550429 OBSCN C T 2 0.0443291 0.627 . . . 0.0622 nonsynonymous_SNV exonic T 0.0362 0.0374 0.0360 -2 +1 228553251 OBSCN G A 1 . . . . . 0.0002 synonymous_SNV exonic . 0.0001 0.0001 0.0001 2 +1 228553257 OBSCN C T 1 . . . . . 2.02e-05 synonymous_SNV exonic . . 1.843e-05 . 4 +1 228553261 OBSCN C T 1 . 5.029 . . . 2.019e-05 nonsynonymous_SNV exonic T . 2.772e-05 0 7 +1 228557681 OBSCN G A 1 . 7.200 . . . 0.0002 nonsynonymous_SNV exonic T 0.0004 0.0001 6.693e-05 5 +1 228557709 OBSCN G A 1 . . . . . 1.513e-05 synonymous_SNV exonic . . 1.794e-05 0 4 +1 228558892 OBSCN C T 5 0.033746 6.518 . . . 0.0775 nonsynonymous_SNV exonic T 0.0650 0.0658 0.0713 1 +1 228559083 OBSCN C T 1 . . . . . . synonymous_SNV exonic . . 2.279e-05 0 4 +1 228559450 OBSCN G A 1 0.00199681 -0.731 . . . 0.0111 nonsynonymous_SNV exonic T 0.0077 0.0118 0.0099 -2 +1 228559467 OBSCN G A 1 . . . . . . synonymous_SNV exonic . . 0 . 4 +1 228559654 OBSCN G A 1 0.00499201 1.765 . . . 0.0156 nonsynonymous_SNV exonic T 0.0152 0.0137 0.0112 -2 +1 228559967 OBSCN C T 2 0.00499201 2.939 . . . 0.0326 nonsynonymous_SNV exonic T 0.0136 0.0139 0.0110 -2 +1 228559994 OBSCN C T 38 0.589058 2.792 . . . 0.5975 nonsynonymous_SNV exonic T 0.5033 0.5120 0.4981 -2 +1 228560034 OBSCN C T 1 0.013778 . . . . 0.0016 synonymous_SNV exonic . 0.0005 0.0004 0.0009 -2 +1 228560139 OBSCN A G 81 0.974241 . . . . 0.9239 synonymous_SNV exonic . 0.9259 0.9205 0.9202 -2 +1 228560700 OBSCN T C 50 0.757987 . . . . 0.5550 synonymous_SNV exonic . 0.5485 0.5490 0.5350 -2 +1 228562350 OBSCN T C 1 0.00519169 . . . . 0.0261 synonymous_SNV exonic . 0.0280 0.0253 0.0283 -2 +1 228563477 OBSCN G A 1 0.0141773 6.443 . . . 0.0001 nonsynonymous_SNV exonic T . 0.0001 6.693e-05 1 +1 228563773 OBSCN C T 1 0.000199681 . . . . 0.0006 synonymous_SNV exonic . 0.0007 0.0004 0.0003 0 +1 228564884 OBSCN G A 6 0.140775 1.749 . . . 0.1419 nonsynonymous_SNV exonic T 0.0847 0.0935 0.0981 -2 +1 228565208 OBSCN C T 6 0.0117812 . . . . 0.0437 synonymous_SNV exonic . 0.0354 0.0385 0.0430 -2 +1 228565329 OBSCN G A 2 0.00499201 3.334 . . . 0.0222 nonsynonymous_SNV exonic T 0.0231 0.0225 0.0180 -2 +1 236882303 ACTN2 T C 84 0.992612 . MedGen:CN169374 not_specified Benign 0.9999 synonymous_SNV exonic . 0.9998 1.0000 1 -2 +1 236883421 ACTN2 C T 77 0.920727 . MedGen:CN169374 not_specified Benign 0.9953 synonymous_SNV exonic . 0.9953 0.9951 0.9949 -2 +1 236902652 ACTN2 C T 1 0.000199681 . 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 Likely_benign 0 synonymous_SNV exonic . . 8.954e-06 0 -2 +1 236911022 ACTN2 G A 1 . 5.467 . . . . nonsynonymous_SNV exonic T . . . 7 +1 236925844 ACTN2 G A 7 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 -6 +1 237617737 RYR2 T C 1 . . . . . 3.004e-05 synonymous_SNV exonic . . 1.806e-05 . 4 +1 237617757 RYR2 C T 39 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 -2 +1 237617790 RYR2 C A 1 . -0.132 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Uncertain_significance 6.008e-05 nonsynonymous_SNV exonic T . 6.291e-05 . 4 +1 237617793 RYR2 C A 1 . . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Likely_benign 4.506e-05 synonymous_SNV exonic . . 3.594e-05 6.666e-05 4 +1 237656289 RYR2 C T 1 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 -2 +1 237670107 RYR2 A G 1 . 6.031 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Uncertain_significance 0.0002 nonsynonymous_SNV exonic D . 5.386e-05 0.0002 8 +1 237711797 RYR2 A G 77 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 -2 +1 237753998 RYR2 C T 1 . 6.079 . . . . nonsynonymous_SNV exonic D . . . 10 +1 237755076 RYR2 A G 4 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 -2 +1 237774113 RYR2 G A 1 . 4.374 . . . 0 nonsynonymous_SNV exonic D . 1.823e-05 0 7 +1 237778082 RYR2 G A 2 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 -2 +1 237778084 RYR2 G A 2 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 -2 +1 237801770 RYR2 T C 84 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 -2 +1 237813369 RYR2 A G 1 . 3.518 . . . . nonsynonymous_SNV exonic D . . . 7 +1 237814783 RYR2 C T 31 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 -2 +1 237831251 RYR2 G A 1 . . . . . . synonymous_SNV exonic . . 0 . 4 +1 237841390 RYR2 A G 20 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 -2 +1 237863718 RYR2 T G 84 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 -2 +1 237881770 RYR2 C T 62 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 -2 +1 237890437 RYR2 C T 84 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 -2 +1 237947000 RYR2 C T 5 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 -2 +1 237955496 RYR2 A G 1 . -1.326 . . . 1.61e-05 nonsynonymous_SNV exonic T . 1.797e-05 . 4 +2 39213443 SOS1 T G 1 . 1.571 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . nonsynonymous_SNV exonic T . . 6.665e-05 4 +2 47403674 CALM2 G T 1 0.00139776 . . . . 0 nonsynonymous_SNV exonic . . 2.582e-05 0 0 +2 105977761 FHL2 G A 13 0.111422 . MedGen:CN169374 not_specified Benign 0.1934 synonymous_SNV exonic . 0.1959 0.1935 0.1913 -2 +2 105977776 FHL2 G A 11 0.0517173 . MedGen:CN169374 not_specified Benign 0.1184 synonymous_SNV exonic . 0.1270 0.1223 0.1172 -2 +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 -10 +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 4 +2 179393111 TTN A G 6 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 -6 +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 +2 179393859 TTN A G 2 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 2 +2 179395067 TTN C G 8 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 -6 +2 179395554 TTN GC AA 3 . . 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 . nonframeshift_substitution exonic . . . . 4 +2 179395560 TTN G A 6 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 -6 +2 179395573 TTN C T 4 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 -10 +2 179395760 TTN G A 6 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 -6 +2 179395958 TTN T C 21 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 -6 +2 179396114 TTN C T 1 0.00139776 . 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 0.0014 synonymous_SNV exonic . 0.0023 0.0008 0.0007 4 +2 179396162 TTN C G 5 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 -6 +2 179396354 TTN G A 12 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 -6 +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 -4 +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 -6 +2 179397561 TTN C T 12 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 -6 +2 179398509 TTN C A 6 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 -6 +2 179398823 TTN G A 12 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 -6 +2 179399576 TTN C G 1 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 2 +2 179399677 TTN C T 1 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 -4 +2 179400895 TTN C T 5 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 -6 +2 179401078 TTN G A 1 0.000199681 4.313 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance 0 nonsynonymous_SNV exonic D 0.0001 0 6.666e-05 5 +2 179401742 TTN C T 3 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 -6 +2 179403750 TTN C T 3 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 -6 +2 179404402 TTN T C 2 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 -4 +2 179404628 TTN T A 5 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 -6 +2 179406191 TTN C T 12 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 +2 179407663 TTN G A 1 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 -4 +2 179408713 TTN A G 3 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 -6 +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 2 +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 2 +2 179412966 TTN G A 2 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 -6 +2 179413110 TTN G A 12 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 -6 +2 179413452 TTN G A 2 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 2 +2 179413522 TTN C T 1 . 3.769 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance 6e-05 nonsynonymous_SNV exonic T . 7.193e-05 0 4 +2 179414162 TTN T C 1 0.0347444 -0.886 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 0.0016 0.0017 0.0026 -6 +2 179414318 TTN C T 3 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 -6 +2 179416556 TTN A C 3 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 -6 +2 179417867 TTN T G 2 . 0.586 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 4.509e-05 nonsynonymous_SNV exonic T . 2.702e-05 . 4 +2 179419792 TTN G A 1 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 4 +2 179421609 TTN C T 3 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 -6 +2 179421694 TTN A G 21 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 -6 +2 179422805 TTN A G 1 . . . . . . synonymous_SNV exonic . . 9.007e-06 . 4 +2 179424333 TTN A C 1 . . 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 synonymous_SNV exonic . 0.0006 0.0006 0.0006 4 +2 179427186 TTN A G 21 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 -6 +2 179427536 TTN T C 21 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 -6 +2 179427778 TTN C T 1 . 5.379 MedGen:CN169374 not_specified Likely_benign 4.496e-05 nonsynonymous_SNV exonic T . 3.593e-05 6.663e-05 7 +2 179429612 TTN A G 1 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 4 +2 179430997 TTN G A 18 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 -6 +2 179431076 TTN C G 1 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 -7 +2 179431797 TTN A T 6 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 -6 +2 179432185 TTN A G 21 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 -6 +2 179433143 TTN C T 1 0.000199681 3.289 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 0.0013 nonsynonymous_SNV exonic T 0.0015 0.0011 0.0011 4 +2 179434137 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 0.0038 synonymous_SNV exonic . 0.0036 0.0040 0.0027 4 +2 179434516 TTN C T 6 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 -6 +2 179435337 TTN T G 3 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 -6 +2 179436020 TTN G A 12 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 -6 +2 179437523 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 0.0010 synonymous_SNV exonic . 0.0007 0.0010 0.0009 -4 +2 179438866 TTN C T 3 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 -6 +2 179439877 TTN G A 1 . 2.456 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance . nonsynonymous_SNV exonic D . 9.09e-06 . 7 +2 179440029 TTN G A 21 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 -6 +2 179440163 TTN C G 1 0.00439297 2.942 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 0.0126 nonsynonymous_SNV exonic T 0.0161 0.0124 0.0160 -6 +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 -4 +2 179441038 TTN C T 1 0.000199681 1.904 MeSH:D030342,MedGen:C0950123|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Inborn_genetic_diseases|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0023 0.0021 0.0022 4 +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 -5 +2 179441386 TTN G A 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 0.0162 synonymous_SNV exonic . 0.0130 0.0157 0.0214 -6 +2 179443540 TTN A G 3 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 -6 +2 179444051 TTN C T 1 0.000199681 4.138 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 Uncertain_significance 0 nonsynonymous_SNV exonic T . 0 . 2 +2 179444768 TTN C G 84 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 -6 +2 179444939 TTN C T 20 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 -6 +2 179446381 TTN C T 1 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 2 +2 179447731 TTN G A 1 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Likely_benign 9.368e-05 synonymous_SNV exonic . 0.0001 7.334e-05 0.0002 0 +2 179447848 TTN T C 21 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 -6 +2 179449131 TTN G A 4 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 -6 +2 179449186 TTN G A 1 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 -6 +2 179451420 TTN G A 21 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 -6 +2 179453429 TTN G A 1 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 2 +2 179453894 TTN A G 1 . 2.680 . . . 1.5e-05 nonsynonymous_SNV exonic T 0.0001 1.801e-05 6.668e-05 4 +2 179454394 TTN A G 21 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 -6 +2 179455207 TTN T C 21 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 -6 +2 179456221 TTN G A 1 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign 7.568e-05 synonymous_SNV exonic . . 5.759e-05 . 0 +2 179456541 TTN T C 1 . 2.246 . . . 0.0009 nonsynonymous_SNV exonic T 0.0011 0.0001 6.664e-05 0 +2 179457147 TTN G A 12 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 -6 +2 179458002 TTN G A 1 0.034345 . 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 0.0023 synonymous_SNV exonic . 0.0017 0.0017 0.0026 -6 +2 179458591 TTN C T 12 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 -6 +2 179462494 TTN A G 21 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 -6 +2 179463576 TTN A G 1 . 2.259 . . . . nonsynonymous_SNV exonic T . 9.022e-06 . 4 +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 -6 +2 179464527 TTN T C 21 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 -6 +2 179467100 TTN C T 1 0.00179712 . 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 0.0106 synonymous_SNV exonic . 0.0133 0.0120 0.0132 2 +2 179469438 TTN A G 1 . . . . . 1.52e-05 synonymous_SNV exonic . . 9.104e-06 . 4 +2 179473176 TTN A C 1 . 0.240 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:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Uncertain_significance 6.384e-05 nonsynonymous_SNV exonic T . 6.65e-05 . 4 +2 179474668 TTN G A 3 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 -6 +2 179474928 TTN T A 1 . 21.211 . . . . stopgain exonic . . . . 12 +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 -6 +2 179477717 TTN A G 3 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 -6 +2 179479245 TTN C T 3 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 -6 +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 2 +2 179482763 TTN C T 3 0.00139776 2.469 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 0.0047 nonsynonymous_SNV exonic T 0.0048 0.0030 0.0027 8 +2 179485846 TTN G C 1 . 2.918 . . . 0.0007 nonsynonymous_SNV exonic T 0.0010 0.0002 0.0001 0 +2 179485947 TTN G A 1 . . . . . 3.019e-05 synonymous_SNV exonic . . 2.712e-05 6.671e-05 4 +2 179497018 TTN G A 1 0.0161741 3.684 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 Benign/Likely_benign 0.0004 nonsynonymous_SNV exonic T 0.0007 9.244e-05 0.0003 -6 +2 179497025 TTN A G 1 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 -6 +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 -6 +2 179497981 TTN A G 1 . 1.395 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 0 nonsynonymous_SNV exonic T . 9.009e-06 6.664e-05 4 +2 179498042 TTN T C 5 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 -6 +2 179498303 TTN T C 1 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 -6 +2 179514941 TTN TTTTCCTCTTCAGGAGCAA T 2 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 -6 +2 179515483 TTN G C 1 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 -6 +2 179516831 TTN G C 1 . 2.161 . . . 1.502e-05 nonsynonymous_SNV exonic T . 1.794e-05 . 4 +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 2 +2 179523029 TTN T A 1 . 0.074 . . . . nonsynonymous_SNV exonic T . 0 . 4 +2 179527075 TTN T C 1 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance . synonymous_SNV exonic . . 0 0 4 +2 179527095 TTN G A 1 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 -10 +2 179528068 TTN C A 1 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 exonic T 0.0045 0.0042 0.0047 -10 +2 179528068 TTN C A 1 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 exonic T 0.0045 0.0042 0.0047 -10 +2 179528378 TTN C T 3 0.259185 2.900 MedGen:CN169374 not_specified Benign 0.0632 nonsynonymous_SNV exonic T 0.0560 0.0595 0.0572 -2 +2 179528759 TTN T C 1 0.000199681 0.496 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 0.0034 nonsynonymous_SNV exonic T 0.0040 0.0038 0.0025 -4 +2 179528788 TTN T C 1 0.0183706 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0016 synonymous_SNV exonic . 0.0013 0.0007 0.0007 -10 +2 179543217 TTN C T 15 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 -6 +2 179544685 TTN C CTCT 1 0.00459265 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:C2751898,OMIM:603829|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|Paroxysmal_familial_ventricular_fibrillation_1|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0162 nonframeshift_insertion exonic . 0.0168 0.0181 0.0173 2 +2 179545859 TTN C T 20 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 -6 +2 179547465 TTN C T 1 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 4 +2 179549131 TTN C T 1 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 -6 +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 6 +2 179554305 TTN C T 24 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 -6 +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 4 +2 179558366 TTN T C 21 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 -6 +2 179569387 TTN T A 2 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 -6 +2 179571448 TTN A G 1 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 -6 +2 179575511 TTN C T 6 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 -6 +2 179578704 TTN G A 1 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 -6 +2 179578730 TTN G A 19 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 -6 +2 179579093 TTN T C 18 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 +2 179579212 TTN T C 19 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 -6 +2 179579822 TTN T A 19 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 -6 +2 179579977 TTN G A 2 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 2 +2 179582327 TTN C T 18 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 +2 179582537 TTN G T 19 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 +2 179582824 TTN C T 1 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 -6 +2 179582853 TTN T C 6 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 -6 +2 179583317 TTN G A 5 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 -6 +2 179583496 TTN T G 18 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 -6 +2 179585257 TTN G C 1 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 -4 +2 179585266 TTN C T 84 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 -6 +2 179586756 TTN C T 1 0.000199681 3.020 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 0.0030 nonsynonymous_SNV exonic T 0.0040 0.0027 0.0032 4 +2 179587130 TTN C G 18 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 +2 179587546 TTN A G 1 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 -6 +2 179587552 TTN T C 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 0.0116 synonymous_SNV exonic . 0.0118 0.0118 0.0089 -10 +2 179589058 TTN G A 1 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 -6 +2 179589241 TTN G A 1 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 -6 +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 -7 +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 2 +2 179593352 TTN C T 1 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 -6 +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 -6 +2 179594107 TTN G C 3 0.000599042 0.841 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 0.0048 nonsynonymous_SNV exonic T 0.0050 0.0030 0.0027 8 +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 2 +2 179597242 TTN C A 2 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 7 +2 179598228 TTN A G 11 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 -6 +2 179600563 TTN G A 84 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 -6 +2 179600648 TTN C T 4 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 -6 +2 179604160 TTN T G 4 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 -2 +2 179604366 TTN T G 4 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 -2 +2 179604742 TTN G A 4 0.0766773 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 synonymous_SNV exonic . 0.0433 0.0444 0.0441 -2 +2 179605180 TTN C T,A 4 0.0760783 . 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 0.0459 synonymous_SNV exonic . . 0.0443 0.0442 -10 +2 179605705 TTN A G 4 0.0760783 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 synonymous_SNV exonic . 0.0437 0.0444 0.0442 -2 +2 179605725 TTN T C 1 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 -10 +2 179605991 TTN G A 1 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 -10 +2 179606538 TTN G A 5 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 -2 +2 179606590 TTN T C 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 0.0012 synonymous_SNV exonic . 0.0010 0.0008 0.0007 -4 +2 179610510 TTN G C 1 . . . . . . synonymous_SNV exonic . . . . 4 +2 179610836 TTN C T 1 0.000199681 0.898 . . . 1.501e-05 nonsynonymous_SNV exonic T 0.0001 9.046e-06 6.67e-05 2 +2 179611711 TTN C A 4 0.0772764 0.758 MedGen:CN169374 not_specified Benign 0.0459 nonsynonymous_SNV exonic T 0.0433 0.0444 0.0441 -2 +2 179612214 TTN A G 1 . . . . . . synonymous_SNV exonic . . . . 4 +2 179612383 TTN C T 4 0.0145767 1.322 MedGen:CN169374 not_specified Benign 0.0561 nonsynonymous_SNV exonic T 0.0582 0.0580 0.0492 -2 +2 179612883 TTN A G 2 0.00339457 . MedGen:CN169374 not_specified Benign 0.0111 synonymous_SNV exonic . 0.0128 0.0125 0.0111 -2 +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 -2 +2 179613651 TTN G A 1 0.0109824 . MedGen:CN169374 not_specified Benign 0.0288 synonymous_SNV exonic . 0.0356 0.0331 0.0291 -2 +2 179614952 TTN A G 84 0.97504 . MedGen:CN169374 not_specified Benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9999 -2 +2 179615887 TTN T C 79 0.733027 0.654 MedGen:CN169374 not_specified Benign 0.9251 nonsynonymous_SNV exonic T 0.9303 0.9291 0.9301 -2 +2 179615931 TTN C G 84 0.97504 0.163 MedGen:CN169374 not_specified Benign 0.9997 nonsynonymous_SNV exonic T 0.9992 0.9998 0.9999 -2 +2 179615994 TTN T C 84 0.97504 . MedGen:CN169374 not_specified Benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9998 -2 +2 179620951 TTN C T 79 0.804513 3.252 MedGen:CN169374 not_specified Benign 0.9274 nonsynonymous_SNV exonic T 0.9321 0.9303 0.9314 -2 +2 179621184 TTN G A 3 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 -10 +2 179621477 TTN C T 84 0.999002 . MedGen:CN169374 not_specified Benign/Likely_benign 1 nonsynonymous_SNV exonic . 1 1.0000 1 -2 +2 179621503 TTN C T 4 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 -10 +2 179623758 TTN C T 79 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 -6 +2 179628918 TTN C T 3 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 -10 +2 179629363 TTN T C 84 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 -6 +2 179629461 TTN C T 79 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 -6 +2 179631214 TTN T C 5 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 -6 +2 179632496 TTN T C 1 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 -6 +2 179633644 TTN G C 1 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 -6 +2 179634936 TTN C T 4 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 -6 +2 179634961 TTN C A 2 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 -10 +2 179637861 TTN C G 4 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 -6 +2 179638238 TTN G A 5 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 -6 +2 179638721 TTN C T 1 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 -6 +2 179639143 TTN GA TT 1 . . . . . . nonframeshift_substitution exonic . . . . 4 +2 179641975 TTN C T 4 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 -6 +2 179642589 TTN C G 1 0.0103834 4.261 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 0.0076 0.0106 0.0089 -10 +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 +2 179644035 TTN G A 84 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 -6 +2 179644855 TTN T C 75 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 -6 +2 179647546 TTN A G 5 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 -6 +2 179650408 TTN G A 27 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 -6 +2 179650701 TTN C T 31 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 -6 +2 179658175 TTN C T 1 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 -6 +2 179659912 TTN G A 4 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 -6 +2 179666982 TTN C A 1 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 -6 +2 220283259 DES A G 81 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 -10 +2 220283277 DES T C 81 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 -10 +2 220283470 DES G A 1 . 7.014 . . . . nonsynonymous_SNV exonic D . . . 10 +2 220283556 DES G A 1 0.0171725 . 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 0.0020 synonymous_SNV exonic . 0.0007 0.0005 0.0005 -10 +2 220283592 DES C T 1 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 -10 +2 220285002 DES T C 1 0.029353 . 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:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.0008 synonymous_SNV exonic . 0.0008 0.0010 0.0012 -10 +2 220285002 DES T C 1 0.029353 . 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:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.0008 synonymous_SNV exonic . 0.0008 0.0010 0.0012 -10 +2 220285309 DES C T 26 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 -10 +2 220285666 DES G C 26 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 -10 +2 220286142 DES G A 26 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 -10 +3 8775589 CAV3 C T 8 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 -2 +3 8775661 CAV3 C T 27 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 -2 +3 8787220 CAV3 T C 17 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 -2 +3 8787266 CAV3 G A 1 . 6.327 MedGen:CN517202 not_provided not_provided 0 nonsynonymous_SNV exonic D . 0 . 10 +3 8787330 CAV3 C T 2 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 3 +3 12626047 RAF1 G A 1 . 2.621 MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN230736 Rasopathy|not_specified|Cardiovascular_phenotype Uncertain_significance 1.498e-05 nonsynonymous_SNV exonic T . 3.588e-05 . 4 +3 14172381 TMEM43 C T 1 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 -2 +3 14174427 TMEM43 A T 16 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 -2 +3 14175262 TMEM43 T C 17 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 -2 +3 14180706 TMEM43 C T 2 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 -2 +3 14180731 TMEM43 C T 1 0.00379393 7.570 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0113 nonsynonymous_SNV exonic T 0.0134 0.0121 0.0123 1 +3 32181761 GPD1L C T 13 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 +3 32200322 GPD1L T C 24 0.479433 . . . . 0.3354 . intronic . 0.3065 0.3094 0.3225 -2 +3 38592406 SCN5A A G 29 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 -6 +3 38597180 SCN5A G A 3 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 38601665 SCN5A C T 1 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 -2 +3 38622467 SCN5A T C 69 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 -6 +3 38629013 SCN5A C T 1 . 7.044 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Primary_dilated_cardiomyopathy|Cardiomyopathy|Congenital_long_QT_syndrome|Brugada_syndrome|not_specified Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic D . 8.951e-06 . 10 +3 38645281 SCN5A C A 1 . . . . . . synonymous_SNV exonic . . . . 4 +3 38645420 SCN5A T C 23 0.230431 -1.102 . . . 0.2246 nonsynonymous_SNV exonic T 0.2321 0.2301 0.2467 -2 +3 38645506 SCN5A A G 1 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 0 +3 38674699 SCN5A G A 1 0.0371406 5.725 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 Benign/Likely_benign 0.0012 nonsynonymous_SNV exonic T 0.0013 0.0014 0.0014 -3 +3 38674712 SCN5A T C 66 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 -6 +3 38739574 SCN10A T C 84 1 0.227 MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic T . 1 1 -2 +3 38739622 SCN10A C T 2 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 -2 +3 38739845 SCN10A A G 82 0.92472 . MedGen:CN169374 not_specified Benign 0.9180 synonymous_SNV exonic . 0.9151 0.9162 0.9122 -2 +3 38740001 SCN10A C T 2 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 +3 38748833 SCN10A T C 18 0.242412 . MedGen:CN169374 not_specified Benign 0.1396 synonymous_SNV exonic . 0.1430 0.1404 0.1377 -2 +3 38753732 SCN10A A T 1 0.00119808 -1.271 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202 Brugada_syndrome|not_specified|not_provided Benign 0.0066 nonsynonymous_SNV exonic T 0.0065 0.0072 0.0053 0 +3 38755500 SCN10A G T 1 . . . . . 0.0002 synonymous_SNV exonic . 0.0001 0.0002 6.663e-05 2 +3 38763863 SCN10A G C 20 0.219649 . MedGen:CN169374 not_specified Benign 0.2636 synonymous_SNV exonic . 0.2602 0.2571 0.2677 -2 +3 38764998 SCN10A A G 20 0.219649 0.961 MedGen:CN169374 not_specified Benign 0.3007 nonsynonymous_SNV exonic T 0.26 0.2587 0.2678 -2 +3 38766675 SCN10A A G 49 0.757987 -0.943 MedGen:CN169374 not_specified Benign 0.6036 nonsynonymous_SNV exonic T 0.6019 0.6030 0.6167 -2 +3 38766701 SCN10A C T 6 0.115415 . MedGen:CN169374 not_specified Benign 0.1411 synonymous_SNV exonic . 0.1414 0.1448 0.1510 -2 +3 38766760 SCN10A G T 2 0.00559105 0.370 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0224 nonsynonymous_SNV exonic T 0.0317 0.0244 0.0246 -2 +3 38768247 SCN10A G A 18 0.190495 . MedGen:CN169374 not_specified Benign 0.2635 synonymous_SNV exonic . 0.2614 0.2571 0.2661 -2 +3 38768300 SCN10A T C 19 0.210663 -1.544 MedGen:CN169374 not_specified Benign 0.2642 nonsynonymous_SNV exonic T 0.2620 0.2575 0.2662 -2 +3 38768334 SCN10A T C 12 0.135982 . MedGen:CN169374 not_specified Benign 0.0644 synonymous_SNV exonic . 0.0648 0.0656 0.0613 -2 +3 38793752 SCN10A C T 2 0.000199681 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign 0.0004 synonymous_SNV exonic . 0.0006 0.0004 0.0003 0 +3 38793874 SCN10A C T 1 . 2.227 . . . . nonsynonymous_SNV exonic D . 0 . 7 +3 38793940 SCN10A A G 3 0.139976 -0.356 MedGen:CN169374 not_specified Benign 0.0288 nonsynonymous_SNV exonic T 0.0280 0.0285 0.0276 -2 +3 38793989 SCN10A G A 19 0.207668 . MedGen:CN169374 not_specified Benign 0.2599 synonymous_SNV exonic . 0.2523 0.2507 0.2585 -2 +3 38798171 SCN10A C T 18 0.207468 . MedGen:CN169374 not_specified Benign 0.2542 synonymous_SNV exonic . 0.2509 0.2474 0.2567 -2 +3 38805069 SCN10A T C 2 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 -2 +3 38835500 SCN10A A G 1 . 5.158 . . . 4.501e-05 nonsynonymous_SNV exonic D . 2.703e-05 6.667e-05 10 +3 46904812 MYL3 G A 2 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 +3 57882601 SLMAP C T 24 0.299521 . MedGen:CN169374 not_specified Benign 0.2669 synonymous_SNV exonic . 0.2420 0.2560 0.2499 -2 +3 57898376 SLMAP T A 2 0.0071885 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign 0.0282 synonymous_SNV exonic . 0.0320 0.0294 0.0254 -2 +3 57902639 SLMAP G A 2 0.0133786 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign 0.0334 synonymous_SNV exonic . 0.0322 0.0327 0.033 -2 +3 57908707 SLMAP A G 1 0.000199681 2.207 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance 0.0001 nonsynonymous_SNV exonic T 0.0001 0.0001 6.66e-05 2 +3 196771513 DLG1 G A 3 0.0251597 4.635 . . . 0.0535 nonsynonymous_SNV exonic T 0.0471 0.0510 0.0556 -2 +3 196771554 DLG1 T C 3 0.0253594 . . . . 0.0535 synonymous_SNV exonic . 0.0470 0.0517 0.0557 -2 +3 196792163 DLG1 C T 2 0.00419329 7.123 . . . 0.0247 nonsynonymous_SNV exonic T 0.0245 0.0250 0.0240 1 +3 196807928 DLG1 A C 1 0.00559105 1.923 . . . 0.0109 nonsynonymous_SNV exonic T 0.0134 0.0119 0.0103 -2 +3 196865242 DLG1 C T 14 0.127995 4.417 . . . 0.1487 nonsynonymous_SNV exonic T 0.1473 0.1455 0.1379 -2 +3 196921360 DLG1 T C 2 0.0145767 2.040 . . . 0.0470 nonsynonymous_SNV exonic T 0.0443 0.0453 0.0511 -2 +3 197009662 DLG1 C T 1 . 2.951 . . . 1.5e-05 nonsynonymous_SNV exonic T . 0 . 4 +4 114163351 ANK2 G A 1 . 7.151 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 0.0001 0.0002 7 +4 114213631 ANK2 C T 1 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 -2 +4 114257201 ANK2 C T 9 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 -2 +4 114263043 ANK2 G T 1 . 1.294 . . . . nonsynonymous_SNV exonic T . . . 4 +4 114269433 ANK2 A G 1 0.000998403 4.056 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1833154|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Congenital_long_QT_syndrome|Long_QT_syndrome_4|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic T 0.0002 0.0008 0.0005 0 +4 114275243 ANK2 C T 17 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 -2 +4 114276880 ANK2 T C 17 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 -2 +4 114276884 ANK2 A G 17 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 -2 +4 114276894 ANK2 G T 1 . -2.700 . . . 1.499e-05 nonsynonymous_SNV exonic T . 1.801e-05 . 4 +4 114279422 ANK2 A G 17 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 -2 +4 114279674 ANK2 C A 1 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 1 +4 114280329 ANK2 C T 1 . . . . . 3e-05 synonymous_SNV exonic . . 9e-06 . 4 +4 114288900 ANK2 A G 1 . . . . . 1.499e-05 synonymous_SNV exonic . . 4.485e-05 6.668e-05 4 +4 114294308 ANK2 T C 17 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 -2 +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 -2 +4 120057716 MYOZ2 A C 2 . 4.360 . . . . nonsynonymous_SNV exonic T . 0 . 4 +4 120072187 MYOZ2 A G 1 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 +4 120085448 MYOZ2 A G 3 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 +4 186423637 PDLIM3 G A 67 0.659545 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.8484 synonymous_SNV exonic . 0.8535 0.8525 0.8604 -2 +4 186427735 PDLIM3 G A 1 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 -10 +4 186435393 PDLIM3 C T 1 . . . . . 1.499e-05 . intronic . . 1.791e-05 . 4 +5 223646 SDHA A T 2 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 -2 +5 224633 SDHA A G 18 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 -2 +5 226160 SDHA A C 19 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 -2 +5 228362 SDHA T C 19 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 -2 +5 231111 SDHA T C 59 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 -2 +5 233665 SDHA C T 1 0.00399361 . 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 0.0066 synonymous_SNV exonic . 0.0074 0.0061 0.0057 0 +5 233698 SDHA G A 1 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 0 +5 233734 SDHA C G 19 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 -2 +5 233750 SDHA C A 1 . . . . . 1.498e-05 synonymous_SNV exonic . . 8.957e-06 . 4 +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 -2 +5 236587 SDHA G T 2 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 -2 +5 251178 SDHA G A 1 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 0 +5 251469 SDHA G A 19 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 -2 +5 251541 SDHA A G 19 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 -2 +5 254599 SDHA A T 19 . 0.503 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 0.1268 nonsynonymous_SNV exonic T 0.0448 0.1224 0.1118 -2 +5 256472 SDHA G A 18 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 -2 +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 -2 +5 37294473 NUP155 T C 14 0.277157 . . . . 0.3075 synonymous_SNV exonic . 0.2929 0.2896 0.2895 -2 +5 37333727 NUP155 A G 13 0.355032 . . . . 0.1704 synonymous_SNV exonic . 0.1599 0.1620 0.1693 -2 +5 37364443 NUP155 C T 82 0.969649 . . . . 1.0000 synonymous_SNV exonic . 0.9999 0.9999 0.9999 -2 +5 37364443 NUP155 C T 82 0.969649 . . . . 1.0000 synonymous_SNV exonic . 0.9999 0.9999 0.9999 -2 +5 155771510 SGCD G C 1 0.00139776 3.009 MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0003 nonsynonymous_SNV exonic T . 0.0002 . -4 +5 155771579 SGCD T C 39 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 -10 +5 155935687 SGCD A T 1 . 4.725 . . . . nonsynonymous_SNV exonic D . . . 7 +5 155935708 SGCD G A 7 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 172662024 na T C 25 0.535743 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3027 synonymous_SNV exonic . 0.2813 0.2975 0.2926 -2 +6 7542253 DSP G A 1 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 2 +6 7542274 DSP T C 4 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 -2 +6 7556046 DSP T TGCA 1 . . . . . . nonframeshift_insertion exonic . . . . 4 +6 7563008 DSP G A 1 . 7.167 . . . . nonsynonymous_SNV exonic T . 0 . 7 +6 7563983 DSP T G 84 1 . MedGen:CN169374 not_specified Likely_benign 0.9985 synonymous_SNV exonic . 0.9981 0.9986 0.9992 -2 +6 7565727 DSP A T 1 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 8 +6 7572262 DSP A G 68 0.774361 . MedGen:CN169374 not_specified Benign 0.7720 synonymous_SNV exonic . 0.7795 0.7704 0.7585 -2 +6 7576527 DSP G A 69 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 -2 +6 7577260 DSP C T 19 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 -2 +6 7580386 DSP G A 4 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 2 +6 7580958 DSP A G 2 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 -2 +6 7581636 DSP G A 10 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 -2 +6 7584617 DSP C T 28 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 -2 +6 7585670 DSP C A 7 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 -6 +6 7585842 DSP A C 1 . 5.198 . . . . nonsynonymous_SNV exonic T . . . 7 +6 7585967 DSP G C 59 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 -10 +6 26091179 HFE C G 15 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 exonic D 0.1513 0.1441 0.1440 1 +6 26091179 HFE C G 15 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 exonic D 0.1513 0.1441 0.1440 1 +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 exonic D 0.0151 0.0155 0.0137 1 +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 exonic D 0.0151 0.0155 0.0137 1 +6 26093141 HFE G A 4 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 exonic D 0.0641 0.0573 0.0593 4 +6 26093141 HFE G A 4 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 exonic D 0.0641 0.0573 0.0593 4 +6 26093236 HFE G A 10 0.13139 . . HFE_INTRONIC_POLYMORPHISM Benign 0.1300 . intronic . 0.1291 0.1251 0.1261 -2 +6 26093236 HFE G A 10 0.13139 . . HFE_INTRONIC_POLYMORPHISM Benign 0.1300 . intronic . 0.1291 0.1251 0.1261 -2 +6 76542594 MYO6 A G 1 . 1.434 . . . . nonsynonymous_SNV exonic T . 8.957e-06 . 4 +6 76564897 MYO6 T C 1 0.013778 1.966 MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.0002 nonsynonymous_SNV exonic T 0.0007 0.0001 6.669e-05 -2 +6 76564953 MYO6 A G 1 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 -2 +6 76576290 MYO6 C T 3 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 -2 +6 76623854 MYO6 C T 1 . 8.579 . . . 2.997e-05 nonsynonymous_SNV exonic D . 1.791e-05 0 10 +6 76624538 MYO6 G A 1 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 4 +6 112435912 LAMA4 A T 28 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 -10 +6 112440464 LAMA4 G A 1 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 -10 +6 112453970 LAMA4 G A 1 . . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Likely_benign 0.0002 synonymous_SNV exonic . 0.0006 0.0002 0.0001 0 +6 112454030 LAMA4 G T 1 . 2.395 . . . . nonsynonymous_SNV exonic T . . . 4 +6 112457383 LAMA4 G C 26 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 -10 +6 112457390 LAMA4 C T 60 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 -10 +6 112460365 LAMA4 C T 3 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 -4 +6 112463389 LAMA4 G T 1 . 3.692 MedGen:CN169374 not_specified Uncertain_significance 8.991e-05 nonsynonymous_SNV exonic T . 0.0002 0.0001 2 +6 112476767 LAMA4 A G 1 . . MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0014 synonymous_SNV exonic . 0.0009 0.0014 0.0020 4 +6 112480041 LAMA4 A G 4 0.091254 . MedGen:CN169374 not_specified Benign 0.0987 synonymous_SNV exonic . 0.0881 0.0964 0.1301 -2 +6 112493872 LAMA4 A G 56 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 -10 +6 112506496 LAMA4 G A 1 0.000998403 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign/Likely_benign 0.0003 synonymous_SNV exonic . 0.0003 0.0002 6.666e-05 -4 +6 112508694 LAMA4 A G 1 0.000199681 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0038 synonymous_SNV exonic . 0.0036 0.0039 0.0039 -8 +6 112508769 LAMA4 TG GT 84 . . MedGen:CN169374 not_specified Benign . nonframeshift_substitution exonic . . . . 12 +6 112512905 LAMA4 G A 9 0.316893 . MedGen:CN169374 not_specified Benign 0.1338 synonymous_SNV exonic . 0.1219 0.1299 0.1536 -2 +6 112522852 LAMA4 G A 1 0.0309505 7.272 MedGen:CN169374 not_specified Benign 0.0609 nonsynonymous_SNV exonic T 0.0649 0.0648 0.0627 1 +6 112575014 LAMA4 A G 1 0.00599042 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0166 synonymous_SNV exonic . 0.0143 0.0158 0.0229 -10 +6 121768710 GJA1 G A 2 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 +6 121768751 GJA1 C T 1 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 -2 +6 123673628 TRDN C T 4 0.00898562 . . . . 0.0404 . UTR3 . 0.0399 0.0417 0.0465 -2 +6 123673628 TRDN C T 4 0.00898562 . . . . 0.0404 . UTR3 . 0.0399 0.0417 0.0465 -2 +6 123687288 TRDN A C 78 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 -2 +6 123687297 TRDN G T 1 . 2.998 . . . 0 nonsynonymous_SNV exonic T . 0 . 4 +6 123696766 TRDN G T 10 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 +6 123699042 TRDN T C 10 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 +6 123824837 TRDN C T 1 0.000399361 -0.166 MedGen:CN169374 not_specified Likely_benign 9.845e-05 nonsynonymous_SNV exonic . 0.0001 0.0001 6.673e-05 2 +6 123824837 TRDN C T 1 0.000399361 -0.166 MedGen:CN169374 not_specified Likely_benign 9.845e-05 nonsynonymous_SNV exonic . 0.0001 0.0001 6.673e-05 2 +6 123869607 TRDN G C 43 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 -2 +6 123957904 TRDN G A 2 . 3.418 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Uncertain_significance 6.017e-05 nonsynonymous_SNV exonic T . 2.704e-05 6.668e-05 4 +6 129371106 LAMA2 C T 17 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 +6 129381026 LAMA2 C A 77 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 +6 129571272 LAMA2 G A 2 0.00958466 6.614 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign 0.0172 nonsynonymous_SNV exonic T 0.0206 0.0180 0.0169 1 +6 129571330 LAMA2 G A 14 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 -2 +6 129612808 LAMA2 A G 25 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 +6 129635800 LAMA2 G A 4 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 -2 +6 129636723 LAMA2 C G 1 . -2.769 . . . . nonsynonymous_SNV exonic T . . . 4 +6 129663525 LAMA2 G A 1 0.000399361 5.210 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Conflicting_interpretations_of_pathogenicity 1.499e-05 nonsynonymous_SNV exonic T . 8.983e-06 0 5 +6 129687396 LAMA2 G A 3 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 -2 +6 129691132 LAMA2 C G 7 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 +6 129722389 LAMA2 A G 48 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 +6 129722425 LAMA2 G A 47 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 +6 129762042 LAMA2 C A 1 0.0303514 1.020 MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0005 -2 +6 129762112 LAMA2 G A 11 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 +6 129763368 LAMA2 A G 1 0.0305511 . . . . 0.0004 synonymous_SNV exonic . 0.0003 0.0003 0.0005 -2 +6 129777560 LAMA2 C T 1 0.00299521 0.636 MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Conflicting_interpretations_of_pathogenicity 0.0001 nonsynonymous_SNV exonic T . 0.0002 6.665e-05 0 +6 129802516 LAMA2 G A 1 . 6.690 . . . 0.0002 nonsynonymous_SNV exonic D . 0.0001 6.664e-05 8 +6 129807629 LAMA2 C T 66 0.583866 7.378 MedGen:CN169374 not_specified Benign 0.7148 nonsynonymous_SNV exonic D 0.7265 0.7167 0.7152 4 +6 129807699 LAMA2 G C 66 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 +6 129807714 LAMA2 G A 17 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 +6 129813053 LAMA2 A G 3 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 -2 +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 +6 133789728 EYA4 G A 28 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 exonic T 0.3128 0.3223 0.3103 -3 +6 133789728 EYA4 G A 28 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 exonic T 0.3128 0.3223 0.3103 -3 +6 133789765 EYA4 C T 1 0.000399361 4.801 MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN239310|MedGen:CN239435|MedGen:CN517202 Dilated_cardiomyopathy_1J|not_specified|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic T 0.0008 0.0011 0.0017 4 +6 133789765 EYA4 C T 1 0.000399361 4.801 MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN239310|MedGen:CN239435|MedGen:CN517202 Dilated_cardiomyopathy_1J|not_specified|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic T 0.0008 0.0011 0.0017 4 +6 133849868 EYA4 C T 1 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 -10 +6 133849966 TARID C T 29 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 -6 +6 152443744 SYNE1 G T 8 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 -2 +6 152443761 SYNE1 C T 4 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 -2 +6 152453291 SYNE1 G A 7 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 -2 +6 152453307 SYNE1 C G 1 0.000399361 7.289 MedGen:CN169374 not_specified Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 0.0001 6.666e-05 5 +6 152457795 SYNE1 C T 1 0.00139776 . 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 0.0016 synonymous_SNV exonic . 0.0019 0.0020 0.0027 0 +6 152464839 SYNE1 A G 51 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 -2 +6 152466674 SYNE1 T C 32 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 -2 +6 152469188 SYNE1 C G 33 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 -2 +6 152469204 SYNE1 G A 1 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 0 +6 152469331 SYNE1 C T 28 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 -2 +6 152470752 SYNE1 C A 8 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 -2 +6 152473181 SYNE1 T C 6 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 -2 +6 152501416 SYNE1 C T 1 0.00119808 4.749 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 Likely_benign 0.0060 nonsynonymous_SNV exonic T 0.0055 0.0063 0.0060 0 +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 0 +6 152510454 SYNE1 T C 1 . 4.624 . . . 1.498e-05 nonsynonymous_SNV exonic T . 8.969e-06 . 4 +6 152529260 SYNE1 G A 17 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 -2 +6 152532702 SYNE1 T C 1 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 1 +6 152534768 SYNE1 C T 3 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 -2 +6 152540278 SYNE1 A C 82 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 -2 +6 152551800 SYNE1 T G 1 . 4.901 . . . 1.5e-05 nonsynonymous_SNV exonic T . 1.795e-05 . 4 +6 152558075 SYNE1 G A 1 . . . . . . synonymous_SNV exonic . . . . 4 +6 152589223 SYNE1 T C 1 . . MedGen:CN169374 not_specified Uncertain_significance 0.0001 synonymous_SNV exonic . . 5.378e-05 0 4 +6 152590337 SYNE1 G T 1 . 5.057 MedGen:CN169374 not_specified Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 0.0001 0.0001 7 +6 152615200 SYNE1 G A 16 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 -2 +6 152629631 SYNE1 C T 3 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 exonic T 0.0071 0.0066 0.0075 1 +6 152629631 SYNE1 C T 3 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 exonic T 0.0071 0.0066 0.0075 1 +6 152640110 SYNE1 G A 3 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 -2 +6 152640138 SYNE1 T C 1 0.000199681 0.005 MedGen:CN169374 not_specified Uncertain_significance 4.561e-05 nonsynonymous_SNV exonic T . 2.687e-05 . 2 +6 152646279 SYNE1 G C 3 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 -2 +6 152646308 SYNE1 G C 1 . 4.278 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 Uncertain_significance 0.0014 nonsynonymous_SNV exonic T 0.0007 0.0010 0.0003 0 +6 152646407 SYNE1 C T 1 0.000599042 4.570 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 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant Likely_benign 4.496e-05 nonsynonymous_SNV exonic T . 2.686e-05 0 0 +6 152647681 SYNE1 A T 61 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 -2 +6 152650903 SYNE1 G A 1 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 -2 +6 152651557 SYNE1 G A 1 0.000399361 4.364 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 0.0017 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0019 0 +6 152651759 SYNE1 C G 7 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 -2 +6 152652034 SYNE1 A T 61 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 -2 +6 152652599 SYNE1 G A 1 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 -2 +6 152658062 SYNE1 C G 1 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 1 +6 152658141 SYNE1 CT AC 5 . . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998 Cardiomyopathy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant Conflicting_interpretations_of_pathogenicity . nonframeshift_substitution exonic . . . . 12 +6 152658142 SYNE1 T C 56 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 -2 +6 152660451 SYNE1 G A 11 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 -2 +6 152665261 SYNE1 C A 50 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 -2 +6 152668211 SYNE1 A G 1 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 1 +6 152668215 SYNE1 C T 1 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 -2 +6 152668272 SYNE1 C T 4 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 152671865 SYNE1 T G 2 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 -2 +6 152675854 SYNE1 A G 48 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 exonic . 0.6133 0.6049 0.6074 -2 +6 152675854 SYNE1 A G 48 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 exonic . 0.6133 0.6049 0.6074 -2 +6 152679518 SYNE1 C T 1 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 -2 +6 152683413 SYNE1 G T 54 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 -2 +6 152686137 SYNE1 T C 1 . . . . . 1.499e-05 synonymous_SNV exonic . . 8.953e-06 . 4 +6 152694184 SYNE1 T C 38 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 -2 +6 152708310 SYNE1 G A 20 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 -2 +6 152722328 SYNE1 T C 1 . 2.372 . . . 6e-05 nonsynonymous_SNV exonic T . 3.584e-05 0 4 +6 152728223 SYNE1 C T 1 0.000399361 0.563 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic T . 4.479e-05 0.0001 2 +6 152746593 SYNE1 A T 6 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 -2 +6 152751278 SYNE1 G T 1 0.0107827 3.699 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 0.0024 nonsynonymous_SNV exonic T 0.0014 0.0009 0.0025 -2 +6 152763258 SYNE1 T C 2 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 -2 +6 152765579 SYNE1 C T 1 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 -2 +6 152771849 SYNE1 G A 7 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 -2 +6 152771882 SYNE1 C G 1 . . . . . 1.498e-05 synonymous_SNV exonic . . 8.954e-06 . 4 +6 152772264 SYNE1 A G 36 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 1 +6 152777095 SYNE1 A C 7 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 -2 +6 152779933 SYNE1 G A 4 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 -2 +6 152841652 SYNE1 T C 1 . 5.700 . . . . nonsynonymous_SNV exonic D . . . 10 +6 152841658 SYNE1 C T 1 0.000199681 4.024 . . . 0.0002 nonsynonymous_SNV exonic T . 0.0001 0.0001 2 +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 -2 +7 35288320 TBX20 C A 1 . 7.019 . . . 3.055e-05 nonsynonymous_SNV exonic D . 1.812e-05 . 10 +7 35293193 TBX20 A G 67 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 +7 35293222 TBX20 T A 1 0.000599042 2.411 . . . 0.0003 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0003 0 +7 81588636 CACNA2D1 G A 31 0.222644 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3047 synonymous_SNV exonic . 0.3153 0.3061 0.3054 -2 +7 81596952 CACNA2D1 G T 1 . 0.973 . . . . nonsynonymous_SNV exonic T . . . 4 +7 81599241 CACNA2D1 C G 1 . 2.877 Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Cardiac_arrest|Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0012 nonsynonymous_SNV exonic T 0.0010 0.0007 0.0005 0 +7 81641500 CACNA2D1 G A 2 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 +7 81643728 CACNA2D1 C T 1 . 6.720 . . . . nonsynonymous_SNV exonic D . . . 10 +7 81667468 CACNA2D1 C T 2 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 +7 91630620 AKAP9 G T 30 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 -2 +7 91631873 AKAP9 G T 1 . 3.047 . . . . nonsynonymous_SNV exonic T . . . 4 +7 91632306 AKAP9 C T 71 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 -2 +7 91632519 AKAP9 G A 1 . . . . . . synonymous_SNV exonic . . 0 . 4 +7 91641928 AKAP9 A G 29 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 -2 +7 91652178 AKAP9 A AC,AAAC 29 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 -2 +7 91682040 AKAP9 T G 1 0.000798722 0.241 EFO:EFO_0004278,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Sudden_cardiac_death|Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0011 nonsynonymous_SNV exonic T 0.0009 0.0008 0.0011 0 +7 91691601 AKAP9 C T 28 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 -2 +7 91694743 AKAP9 A G 1 0.000199681 6.436 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 0.0009 nonsynonymous_SNV exonic T 0.0008 0.0011 0.0011 3 +7 91695779 AKAP9 C T 1 . . 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 0.0014 synonymous_SNV exonic . 0.0022 0.0018 0.0016 0 +7 91708898 AKAP9 A G 13 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 -2 +7 91712698 AKAP9 A G 30 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 -2 +7 91713972 AKAP9 C T 24 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 -2 +7 91714911 AKAP9 C T 84 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 -2 +7 91715662 AKAP9 C T 30 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 -2 +7 91726288 AKAP9 T G 1 . -1.904 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.96e-06 . 4 +7 91726416 AKAP9 A G 1 . . . . . . synonymous_SNV exonic . . . . 4 +7 91726927 AKAP9 A C 30 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 -2 +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 3 +7 91729127 AKAP9 A G 1 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 -2 +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 0 +7 91736680 AKAP9 G A 1 . . . . . 4.497e-05 synonymous_SNV exonic . . 4.478e-05 . 4 +7 92077203 GATAD1 G A 2 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 -2 +7 92085763 GATAD1 C T 3 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 1 +7 128470838 FLNC C T 11 0.110024 . MedGen:CN169374 not_specified Benign 0.0860 synonymous_SNV exonic . 0.0851 0.0856 0.0929 -2 +7 128477472 FLNC T C 13 0.121805 . MedGen:CN169374 not_specified Benign 0.1113 synonymous_SNV exonic . 0.1110 0.1118 0.1201 -2 +7 128477547 FLNC T C 13 0.121006 . MedGen:CN169374 not_specified Benign 0.1112 synonymous_SNV exonic . 0.1108 0.1116 0.1200 -2 +7 128477558 FLNC G A 1 . 5.233 . . . . nonsynonymous_SNV exonic D . . . 10 +7 128478103 FLNC C T 5 0.196486 . MedGen:CN169374 not_specified Benign 0.0420 synonymous_SNV exonic . 0.0409 0.0410 0.0397 -2 +7 128478820 FLNC C T 1 0.0189696 . 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 4.602e-05 synonymous_SNV exonic . . 4.535e-05 6.691e-05 -10 +7 128480123 FLNC C A 2 0.196086 . MedGen:CN169374 not_specified Benign 0.0205 synonymous_SNV exonic . 0.0179 0.0181 0.0192 -2 +7 128480666 FLNC C T 1 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 -10 +7 128481312 FLNC G A 2 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 -8 +7 128482959 FLNC C T 1 0.0239617 3.931 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 0.0012 nonsynonymous_SNV exonic D 0.0015 0.0012 0.0012 -7 +7 128483926 FLNC C T 1 . 3.369 . . . . nonsynonymous_SNV exonic D . 8.954e-06 . 7 +7 128484816 FLNC A G 20 0.379992 . MedGen:CN169374 not_specified Benign 0.1635 synonymous_SNV exonic . 0.1648 0.1643 0.1724 -2 +7 128485240 FLNC C T 3 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 +7 128486052 FLNC C T 1 . 8.168 . . . 3.058e-05 nonsynonymous_SNV exonic D 0.0001 8.992e-06 . 10 +7 128486091 FLNC C T 1 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 -10 +7 128486363 FLNC C T 17 0.346046 . MedGen:CN169374 not_specified Benign 0.1711 synonymous_SNV exonic . 0.1622 0.1667 0.1717 -2 +7 128486446 FLNC C T 5 0.160543 . MedGen:CN169374 not_specified Benign 0.0420 synonymous_SNV exonic . 0.0401 0.0409 0.0396 -2 +7 128487866 FLNC T C 84 0.990615 . MedGen:CN169374 not_specified Benign 0.9999 synonymous_SNV exonic . 1 0.9999 0.9999 -2 +7 128487893 FLNC G A 6 0.257788 . MedGen:CN169374 not_specified Benign 0.0446 synonymous_SNV exonic . 0.0433 0.0439 0.0428 -2 +7 128488734 FLNC G A 10 0.0625 4.924 MedGen:CN169374 not_specified Benign 0.0879 nonsynonymous_SNV exonic T 0.0850 0.0866 0.0886 -2 +7 128491324 FLNC C T 1 0.00219649 7.479 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 0.0083 nonsynonymous_SNV exonic T 0.0062 0.0084 0.0068 -5 +7 128491603 FLNC T C 7 0.288938 . MedGen:CN169374 not_specified Benign 0.0448 synonymous_SNV exonic . 0.0448 0.0443 0.0431 -2 +7 128493866 FLNC C T 1 0.0241613 . 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 0.0012 synonymous_SNV exonic . 0.0015 0.0012 0.0011 -10 +7 128494547 FLNC G A 1 0.000199681 4.209 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 0.0014 nonsynonymous_SNV exonic T 0.0009 0.0011 0.0014 4 +7 128494603 FLNC C T 1 . . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant Likely_benign 6.227e-05 synonymous_SNV exonic . . 7.688e-05 6.668e-05 0 +7 128495338 FLNC C T 6 0.258786 . MedGen:CN169374 not_specified Benign 0.0445 synonymous_SNV exonic . 0.0436 0.0439 0.0426 -2 +7 150644756 KCNH2 G A 1 . 1.912 MedGen:CN517202 not_provided not_provided 5.055e-05 nonsynonymous_SNV exonic D 0.0001 4.909e-05 . 7 +7 150645534 KCNH2 T G 20 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 -2 +7 150646928 KCNH2 G A 1 0.0261581 . . . . . . UTR3 . . . 0.0006 -2 +7 150648198 KCNH2 A G 55 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 -2 +7 150648789 KCNH2 T C 31 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 -2 +7 150648918 KCNH2 G A 1 0.00159744 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0016 synonymous_SNV exonic . 0.0010 0.0012 0.0007 0 +7 150649531 KCNH2 G A 19 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 -2 +7 150649603 KCNH2 G A 19 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 -2 +7 151254443 PRKAG2 G A 3 0.0131789 . . . . . . intronic . . . 0.0429 -2 +7 151254445 PRKAG2 T C 57 0.540136 . . . . . . intronic . . . 0.6433 -2 +7 151257695 PRKAG2 C T 1 0.00139776 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN230736|MedGen:CN239247 Cardiomyopathy|Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Cardiovascular_phenotype|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Conflicting_interpretations_of_pathogenicity 0.0050 synonymous_SNV exonic . 0.005 0.0056 0.0047 0 +7 151372549 PRKAG2 C T 1 . 0.501 . . . 1.507e-05 nonsynonymous_SNV exonic T . 8.961e-06 . 4 +8 11565926 GATA4 G T 1 . 1.188 . . . . synonymous_SNV exonic T . . . 4 +8 11614575 GATA4 A G 10 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 -2 +8 74888616 TMEM70 G C 11 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 -2 +8 74893419 TMEM70 C G 8 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 -2 +8 74893452 TMEM70 A G 1 0.0289537 -1.768 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 0.0006 nonsynonymous_SNV exonic T 0.0007 0.0002 0 -2 +8 74893653 TMEM70 G A 4 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 -2 +8 74893821 TMEM70 A G 13 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 -2 +8 74893850 TMEM70 C G 12 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 -2 +9 71650752 FXN A G 82 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 -2 +9 103348208 MURC A T 4 0.117812 . MedGen:CN169374 not_specified Benign 0.0238 synonymous_SNV exonic . 0.0236 0.0238 0.0218 -2 +9 103348634 MURC G A 27 0.293331 . MedGen:CN169374 not_specified Benign 0.4040 synonymous_SNV exonic . 0.4166 0.4052 0.4264 -2 +9 108366499 FKTN G A 4 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 -2 +9 108366734 FKTN G A 18 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 +9 108380355 FKTN C A 18 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 -6 +9 108397495 FKTN A G 1 0.00519169 4.689 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0135 nonsynonymous_SNV exonic T 0.0124 0.0127 0.0118 -2 +9 108397495 FKTN A G 1 0.00519169 4.689 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0135 nonsynonymous_SNV exonic T 0.0124 0.0127 0.0118 -2 +10 18789825 CACNB2 A C 1 . 3.614 . . . . nonsynonymous_SNV exonic D . . . 7 +10 18828371 CACNB2 C T 15 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 +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 1 +10 18828635 CACNB2 T G 23 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 -2 +10 21074724 NEBL T C 6 0.0666933 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0737 synonymous_SNV exonic . 0.0762 0.0734 0.0776 -2 +10 21074724 NEBL T C 6 0.0666933 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0737 synonymous_SNV exonic . 0.0762 0.0734 0.0776 -2 +10 21097527 NEBL T C 1 0.000199681 . MedGen:CN169374 not_specified Uncertain_significance 0.0006 synonymous_SNV exonic . 0.0002 0.0002 0.0001 0 +10 21108377 NEBL C T 20 0.183706 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2958 synonymous_SNV exonic . 0.2952 0.2986 0.3057 -2 +10 21112137 NEBL A T 1 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 -2 +10 21124544 NEBL G A 1 . . . . . 0 synonymous_SNV exonic . . 5.387e-05 . 4 +10 21134282 NEBL C G 8 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 1 +10 21139389 NEBL T C 12 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 -2 +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 4 +10 21186218 NEBL G A 1 0.000599042 . . . . . . UTR5 . . . 0.0027 0 +10 67829103 CTNNA3 T C 1 . 3.375 . . . 2.998e-05 nonsynonymous_SNV exonic T 0.0001 8.991e-06 . 4 +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 +10 68040325 CTNNA3 C T 36 0.485024 0.202 . . . 0.3747 nonsynonymous_SNV exonic T 0.3621 0.3655 0.3892 -2 +10 69281701 CTNNA3 A T 3 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 -2 +10 69299343 CTNNA3 C T 1 . 7.336 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance 3.01e-05 nonsynonymous_SNV exonic T . 1.801e-05 . 7 +10 69299372 CTNNA3 T G 2 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 +10 69881335 MYPN C T 1 . 0.571 . . . 0.0002 nonsynonymous_SNV exonic T . 0.0001 0.0001 2 +10 69908157 MYPN T C 3 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 -10 +10 69908205 MYPN G A 1 0.000399361 1.661 MedGen:C3714995,OMIM:615248 Dilated_cardiomyopathy_1KK Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic T . 1.792e-05 . 2 +10 69909802 MYPN G A 5 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 -2 +10 69926097 MYPN T C 58 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 -2 +10 69926319 MYPN C A 11 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 -2 +10 69926325 MYPN C T 16 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 -2 +10 69926334 MYPN C G 42 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 -2 +10 69926360 MYPN C T 1 . 1.044 . . . . nonsynonymous_SNV exonic T . 8.961e-06 . 4 +10 69933921 MYPN G A 40 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 -2 +10 69933969 MYPN G A 40 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 -2 +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 -10 +10 69934258 MYPN C G 41 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 -2 +10 69934259 MYPN G A 2 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 -10 +10 69948844 MYPN T C 83 0.984625 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.9997 synonymous_SNV exonic . 0.9994 0.9999 0.9998 -2 +10 69959242 MYPN C A 37 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 -7 +10 69959262 MYPN A G 1 . . . . . 5.994e-05 synonymous_SNV exonic . . 3.582e-05 . 4 +10 75802897 VCL A G 1 . . MedGen:C1969639,OMIM:611407|MedGen:CN169374 Dilated_cardiomyopathy_1W|not_specified Likely_benign 3.002e-05 synonymous_SNV exonic . . 4.479e-05 . 0 +10 75830527 VCL G A 1 0.0716853 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0015 synonymous_SNV exonic . 0.0020 0.0009 0.0010 -6 +10 75834646 VCL T C 1 0.072484 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0016 synonymous_SNV exonic . 0.0020 0.0009 0.0011 -6 +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 -8 +10 75854083 VCL C T 1 0.0696885 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0060 synonymous_SNV exonic . 0.0062 0.0052 0.0037 -6 +10 75854182 VCL G A 1 0.0694888 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0062 synonymous_SNV exonic . 0.0062 0.0051 0.0037 -6 +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 4 +10 75860740 VCL A G 1 0.000399361 4.266 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0013 0.0014 0.0013 4 +10 75865065 VCL G A 45 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 -6 +10 75871735 VCL C G 64 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 -6 +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 4 +10 88446985 LDB3 T C 2 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 -6 +10 88466465 LDB3 C T 1 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 -2 +10 88476505 LDB3 C T 1 . . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Likely_benign 0.0012 synonymous_SNV exonic . 0.0007 0.0009 0.0051 0 +10 101483827 COX15 G A 1 . . . . . . synonymous_SNV exonic . . . . 4 +10 112404302 RBM20 G A 16 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 -6 +10 112540884 RBM20 C A 1 0.0269569 0.554 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0001 nonsynonymous_SNV exonic T . 0.0003 0.0002 -6 +10 112572458 RBM20 G C 84 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 -6 +10 112579854 RBM20 A G 1 . -2.871 . . . . nonsynonymous_SNV exonic T . . . 4 +10 112583301 RBM20 A G 1 . 6.810 . . . . nonsynonymous_SNV exonic T . . . 7 +10 112595719 RBM20 G C 75 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 -3 +10 121429633 BAG3 T C 12 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 -10 +10 121436068 BAG3 T G 6 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 -10 +10 121436286 BAG3 C T 6 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 -10 +10 121436362 BAG3 A G 62 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 -10 +11 532611 HRAS G A 1 . . MedGen:CN169374 not_specified Benign 0.0001 . UTR3 . . 6.698e-05 0 4 +11 532729 HRAS C T 1 0.000599042 . MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Costello_syndrome|Rasopathy|not_specified Benign 0.0021 synonymous_SNV exonic . 0.0038 0.0026 0.0029 0 +11 533813 HRAS C T 1 . . . . . . synonymous_SNV exonic . . . . 4 +11 534242 HRAS A G 34 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 -2 +11 2594153 KCNQ1 C T 1 . . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Likely_benign 7.615e-05 synonymous_SNV exonic . . 8.983e-05 6.67e-05 4 +11 2683290 KCNQ1 C T 1 . 2.016 . . . . nonsynonymous_SNV exonic D . . . 7 +11 2797237 KCNQ1 G A 9 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 -2 +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 0 +11 2869188 KCNQ1 C T 15 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 -2 +11 6629665 ILK C T 16 0.314696 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2634 synonymous_SNV exonic . 0.25 0.2605 0.2609 -2 +11 6630542 ILK C T 2 0.000998403 7.261 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374 Primary_familial_hypertrophic_cardiomyopathy|not_specified Likely_benign 0.0009 nonsynonymous_SNV exonic D 0.0014 0.0011 0.0015 6 +11 6630833 ILK G A 17 0.347444 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2642 synonymous_SNV exonic . 0.2514 0.2615 0.2613 -2 +11 6631016 ILK C T 16 0.160144 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2594 synonymous_SNV exonic . 0.2647 0.2581 0.2689 -2 +11 19207841 CSRP3 C T 12 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 -6 +11 47353738 MYBPC3 C T 1 0.00159744 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 3.002e-05 synonymous_SNV exonic . 0.0001 1.791e-05 0 4 +11 47354787 MYBPC3 C T 12 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 -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 -6 +11 47362702 MYBPC3 C T 1 . . . . . . synonymous_SNV exonic . . . . 4 +11 47362702 MYBPC3 C T 1 . . . . . . synonymous_SNV exonic . . . . 4 +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 2 +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 -4 +11 47369443 MYBPC3 G A 4 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 -6 +11 47370041 MYBPC3 T C 4 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 -6 +11 47371442 MYBPC3 G A 1 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 -6 +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 -6 +11 47371598 MYBPC3 C T 10 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 -6 +11 74168411 KCNE3 A G 9 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 +11 74168493 KCNE3 G C 1 0.000199681 0.965 . . . 0.0001 nonsynonymous_SNV exonic T 0.0001 0.0001 0.0001 2 +11 111782284 CRYAB C T 1 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 -10 +11 118011998 SCN4B C G 1 . 0.800 . . . 2.998e-05 nonsynonymous_SNV exonic D . 1.791e-05 . 7 +11 118015832 SCN4B G A 3 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 +11 123513161 SCN3B G A 6 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 +11 128781339 KCNJ5 T C 73 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 +11 128781978 KCNJ5 T G 73 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 -2 +11 128782002 KCNJ5 T C 73 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 -2 +11 128782012 KCNJ5 C G 81 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 -2 +12 2224422 CACNA1C G A 1 . 3.174 . . . 9.206e-05 nonsynonymous_SNV exonic D 0.0001 4.207e-05 6.667e-05 7 +12 2224511 CACNA1C C T 1 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 -2 +12 2558186 CACNA1C G A 14 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 -2 +12 2694638 CACNA1C C T 10 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 -2 +12 2721131 CACNA1C C A 2 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 0.0024 synonymous_SNV exonic . 0.0029 0.0021 0.0015 0 +12 2721137 CACNA1C C T 23 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 -2 +12 2760898 CACNA1C C T 7 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 exonic . 0.0673 0.0672 0.0676 -2 +12 2760898 CACNA1C C T 7 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 exonic . 0.0673 0.0672 0.0676 -2 +12 2788615 CACNA1C C T 2 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 -2 +12 2788732 CACNA1C C A 1 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 0 +12 2788810 CACNA1C C T 3 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 -2 +12 2788879 CACNA1C G A 47 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 -2 +12 2791130 CACNA1C C T 65 0.669129 0.086 MedGen:CN169374 not_specified Benign 0.8109 nonsynonymous_SNV exonic T 0.8213 0.8133 0.8199 -2 +12 2791132 CACNA1C A G 66 0.770567 0.106 MedGen:CN169374 not_specified Benign 0.8198 nonsynonymous_SNV exonic T 0.8310 0.8219 0.8270 -2 +12 2791205 CACNA1C A G 84 1 . MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic . 1 1 1 -2 +12 2800220 CACNA1C A G 1 0.000199681 1.910 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic T 0.0006 0.0007 0.0006 0 +12 5153455 KCNA5 G A 1 . 2.438 . . . . nonsynonymous_SNV exonic D . 0 . 7 +12 5153573 KCNA5 G A 1 0.000199681 -0.949 . . . 0.0010 nonsynonymous_SNV exonic T 0.0006 0.0005 0.0005 0 +12 5153694 KCNA5 C T 2 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 +12 5154232 KCNA5 C T 2 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 3 +12 5154462 KCNA5 T C 84 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 +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 0 +12 21919425 KCNJ8 G A 1 0.000399361 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0016 synonymous_SNV exonic . 0.0006 0.0011 0.0010 0 +12 22040784 ABCC9 C A 1 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 4 +12 22063115 ABCC9 A G 84 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 -6 +12 25362762 KRAS TTTC T 1 . . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Rasopathy|not_specified|not_provided Benign 0.0008 nonframeshift_deletion exonic . . 0.0010 0.0009 0 +12 25362777 KRAS A G 17 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 +12 25368462 KRAS C T 84 0.997604 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign 1 synonymous_SNV exonic . 1 1 1 -2 +12 32949088 PKP2 T C 1 . 0.895 . . . . nonsynonymous_SNV exonic T . . . 4 +12 32949184 PKP2 G A 1 . 4.104 . . . 1.5e-05 nonsynonymous_SNV exonic T . 0 6.737e-05 4 +12 32977026 PKP2 C T 1 0.000599042 5.403 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0038 nonsynonymous_SNV exonic T 0.0047 0.0035 0.0033 3 +12 32994073 PKP2 G A 1 0.00379393 0.934 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 0.0025 nonsynonymous_SNV exonic T 0.0023 0.0027 0.0016 0 +12 32996181 PKP2 CTGGGA C 1 . . MedGen:CN517202 not_provided Likely_pathogenic 3.247e-05 frameshift_deletion exonic . . 1.851e-05 6.662e-05 4 +12 33021934 PKP2 A G 16 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 -2 +12 33031023 PKP2 G A 1 0.0115815 0.514 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 9.006e-05 nonsynonymous_SNV exonic T . 0.0001 0 -2 +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 0 +12 33049457 PKP2 C A 4 0.0131789 3.446 MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0289 nonsynonymous_SNV exonic T 0.0261 0.0260 0.0297 -2 +12 98926856 TMPO G A 2 0.00179712 -0.439 MedGen:C2674876,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided Likely_benign 0.0030 nonsynonymous_SNV exonic T 0.0041 0.0039 0.0033 0 +12 98927523 TMPO A G 1 . . MedGen:CN169374 not_specified Likely_benign 7.495e-05 synonymous_SNV exonic . 0.0001 6.276e-05 . 4 +12 98927830 TMPO C G 14 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 -6 +12 98928161 TMPO TA T 1 0.000998403 . MedGen:CN239310 Dilated_Cardiomyopathy,_Dominant Uncertain_significance 0.0050 . UTR3 . 0.0037 0.0046 0.0044 0 +12 111353556 MYL2 A G 7 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 +12 112888247 PTPN11 TAAAAG T 1 . . . . . . frameshift_deletion exonic . . . . 4 +12 112926885 PTPN11 C A 2 . 13.471 . . . . stopgain exonic . . . . 12 +12 114837349 TBX5 C A 1 0.00219649 7.484 MedGen:C0265264,OMIM:142900,SNOMED_CT:19092004|MedGen:C3542024,OMIM:614823|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Holt-Oram_syndrome|Aortic_valve_disease_2|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0049 nonsynonymous_SNV exonic D 0.0049 0.0049 0.0046 2 +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 -6 +14 23854155 MYH6 G A 5 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 -6 +14 23855320 MYH6 G A 5 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 -6 +14 23855569 MYH6 A G 36 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 -6 +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 -6 +14 23858232 MYH6 C T 7 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 -6 +14 23859610 MYH6 C T 5 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 +14 23859611 MYH6 G A 1 . . . . . 1.704e-05 synonymous_SNV exonic . . 1.834e-05 . 4 +14 23861811 MYH6 A G 34 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 -6 +14 23862646 MYH6 C A 1 0.000599042 3.364 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001645,MedGen:C1968862|MedGen:C0043202,OMIM:194200,Orphanet:ORPHA907,SNOMED_CT:74390002|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2750466,OMIM:613252|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Sudden_cardiac_death|Wolff-Parkinson-White_pattern|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1EE|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0012 nonsynonymous_SNV exonic T 0.0013 0.0013 0.0022 4 +14 23866189 MYH6 G A 1 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 -6 +14 23869993 MYH6 G A 6 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 -6 +14 23871909 MYH6 G A 1 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 -6 +14 23873940 MYH6 C T 1 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 0 +14 23874507 MYH6 G T 12 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 -6 +14 23874523 MYH6 C T 21 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 -6 +14 23874541 MYH6 C T 6 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 -6 +14 23876267 MYH6 C T 6 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 +14 23883028 MYH7 C T 1 . . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569 Hypertrophic_cardiomyopathy Likely_benign 4.495e-05 synonymous_SNV exonic . . 4.476e-05 6.67e-05 4 +14 23884433 MYH7 G A 1 . 5.169 . . . . nonsynonymous_SNV exonic D . . . 10 +14 23884889 MYH7 C T 9 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 -10 +14 23885010 MYH7 C T 1 . 2.620 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Uncertain_significance 5.996e-05 nonsynonymous_SNV exonic T . 7.164e-05 0 4 +14 23885378 MYH7 C T 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign 8.99e-05 synonymous_SNV exonic . 0.0002 7.161e-05 6.672e-05 0 +14 23886409 MYH7 G C 2 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 -10 +14 23886429 MYH7 G A 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign 0 synonymous_SNV exonic . 0.0002 0 6.676e-05 0 +14 23890202 MYH7 C T 1 . 3.269 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Uncertain_significance 8.992e-05 nonsynonymous_SNV exonic T 0.0001 8.956e-05 . 4 +14 23892888 MYH7 A G 23 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 -10 +14 23896915 MYH7 G A 1 0.0129792 . 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 8.99e-05 synonymous_SNV exonic . . 0.0001 0.0002 -10 +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 6 +14 23898994 MYH7 G A 6 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 -10 +14 23899027 MYH7 C T 9 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 -10 +14 23899060 MYH7 G A 6 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 -10 +14 23899793 MYH7 G A 7 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 -10 +14 23900794 MYH7 G A 14 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 exonic . 0.1680 0.1604 0.1547 -10 +14 23900794 MYH7 G A 14 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 exonic . 0.1680 0.1604 0.1547 -10 +14 23901012 MYH7 T C 2 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 -10 +14 23902753 MYH7 G A 36 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 -10 +14 73637618 PSEN1 GGAA G 1 . . . . . . nonframeshift_deletion exonic . . . . 4 +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 +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 +15 48726813 FBN1 G A 1 0.00199681 . 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 0.0047 synonymous_SNV exonic . 0.0073 0.0056 0.0055 0 +15 48748913 FBN1 C T 1 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 48757802 FBN1 G C 1 0.00199681 . 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 0.0047 synonymous_SNV exonic . 0.0073 0.0056 0.0054 0 +15 48779530 FBN1 G C 1 0.0597045 3.171 .|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 FNB1_POLYMORPHISM|Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign 0.0014 nonsynonymous_SNV exonic T 0.0009 0.0013 0.0016 -2 +15 48796105 FBN1 T A 1 0.000399361 . . . . 1.498e-05 synonymous_SNV exonic . . 8.955e-06 0 2 +15 48797307 FBN1 A G 10 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 +15 48800870 FBN1 G A 1 0.00199681 . 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 0.0047 synonymous_SNV exonic . 0.0073 0.0056 0.0054 0 +15 48807637 FBN1 C T 84 1 . MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic . . 1 1 -2 +15 48936940 FBN1 G A 1 . . MedGen:CN169374 not_specified Likely_benign . synonymous_SNV exonic . . . . 4 +15 63340705 TPM1 C T 4 0.210863 . . . . 0.2097 . UTR5 . . 0.1126 0.1194 -2 +15 63351840 TPM1 C A 49 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 -6 +15 63351873 TPM1 T C 10 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 2 +15 66679691 MAP2K1 C T 1 . . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Likely_benign 0.0003 synonymous_SNV exonic . . 0.0002 0.0005 2 +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 +15 73614834 HCN4 T C 73 0.859625 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.9274 synonymous_SNV exonic . 0.9344 0.9315 0.9391 -2 +15 73615097 HCN4 T C 3 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 -2 +15 73615786 HCN4 G C 1 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 -2 +15 73615878 HCN4 C T 6 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 -2 +15 73621946 HCN4 G A 2 0.053115 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0937 synonymous_SNV exonic . 0.0910 0.0957 0.1067 -2 +15 73660442 HCN4 G A 1 . 2.050 . . . . nonsynonymous_SNV exonic D . 3.015e-05 . 7 +15 73660505 HCN4 C T 9 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 -2 +15 73660564 HCN4 C T 1 . . . . . . synonymous_SNV exonic . 0.0001 0 . 4 +17 8192922 na C T 5 0.141573 . MedGen:CN169374 not_specified Benign 0.0422 . UTR3 . 0.0433 0.0388 0.0423 -2 +17 8192922 na C T 5 0.141573 . MedGen:CN169374 not_specified Benign 0.0422 . UTR3 . 0.0433 0.0388 0.0423 -2 +17 8192970 RANGRF G A 2 0.00778754 . . . . 0.0187 . UTR3 . 0.0197 0.0181 0.0188 -2 +17 8193203 na G A 1 0.00119808 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign 0.0034 synonymous_SNV exonic . 0.0023 0.0033 0.0078 0 +17 37822311 TCAP A C 64 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 -6 +17 39912145 JUP T A 57 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 -2 +17 39914971 JUP T C 1 . 5.519 . . . . nonsynonymous_SNV exonic T . . . 7 +17 39925452 JUP A G 1 . 5.856 . . . . nonsynonymous_SNV exonic T . 9.18e-06 . 7 +17 39925713 JUP C T 8 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 1 +17 39925925 JUP A G 69 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 -2 +17 39928051 JUP G A 1 0.000199681 3.789 MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Uncertain_significance 0.0002 nonsynonymous_SNV exonic T . 0.0002 6.68e-05 2 +17 48246607 SGCA G A 1 . 5.676 MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62 Limb-girdle_muscular_dystrophy,_type_2D Pathogenic/Likely_pathogenic 0.0002 nonsynonymous_SNV exonic D 0.0002 0.0002 0.0004 8 +17 48247689 SGCA C T 1 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 -2 +17 68172326 KCNJ2 C T 16 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 -2 +17 68172409 KCNJ2 A G 2 0.000199681 0.003 MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED_CT:422348008|MedGen:C1865018,OMIM:609622|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736 Andersen_Tawil_syndrome|Short_QT_syndrome_3|short_QT_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic T 0.0002 0.0003 0.0002 2 +17 78078656 GAA G A 2 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 -2 +17 78078709 GAA T C 68 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 -2 +17 78079597 GAA A G 69 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 +17 78079643 GAA C T 26 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 +17 78079669 GAA G A 69 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 +17 78081515 GAA G A 1 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 exonic . 0.0120 0.0102 0.0095 -2 +17 78081515 GAA G A 1 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 exonic . 0.0120 0.0102 0.0095 -2 +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 6 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 +17 78082181 GAA G A 1 . 5.968 . . . 7.565e-05 nonsynonymous_SNV exonic D 0.0001 0.0001 0.0004 10 +17 78082504 GAA G A 69 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 +17 78083791 GAA C T 6 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 +17 78084769 GAA G A 26 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 -2 +17 78084781 GAA C T 1 0.000199681 . 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 0.0001 synonymous_SNV exonic . 0.0001 0.0002 6.68e-05 2 +17 78087041 GAA G A 1 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 -2 +17 78087109 GAA A G 28 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 +17 78091405 GAA G A 69 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 +17 78092019 GAA C T 1 . 7.757 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002 Glycogen_storage_disease,_type_II Uncertain_significance 4.577e-05 nonsynonymous_SNV exonic D . 4.495e-05 6.687e-05 10 +17 78092063 GAA G A 66 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 -2 +18 3067278 MYOM1 A G 33 0.594449 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.5350 synonymous_SNV exonic . 0.4664 0.4685 0.4680 -2 +18 3075746 MYOM1 G A 13 0.183506 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2178 synonymous_SNV exonic . 0.1697 0.1666 0.1958 -2 +18 3086065 MYOM1 C T 3 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 1 +18 3126811 MYOM1 A G 20 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 -2 +18 3129297 MYOM1 C T 1 0.000599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0034 synonymous_SNV exonic . 0.0034 0.0036 0.0023 0 +18 3129368 MYOM1 T C 1 . -0.620 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Likely_benign 0.0009 nonsynonymous_SNV exonic T 0.0010 0.0010 0.0007 0 +18 3135639 MYOM1 C T 1 . . . . . 1.503e-05 synonymous_SNV exonic . . 1.791e-05 . 4 +18 3164385 MYOM1 C T 14 0.16873 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2406 synonymous_SNV exonic . 0.2072 0.2097 0.1874 -2 +18 3168816 MYOM1 G A 19 0.282149 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2619 synonymous_SNV exonic . 0.2648 0.2633 0.2740 -2 +18 3173964 MYOM1 G A 21 0.316094 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3103 synonymous_SNV exonic . 0.3157 0.3126 0.3221 -2 +18 3176040 MYOM1 C G 48 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 -2 +18 3176063 MYOM1 C T 20 0.273163 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3057 synonymous_SNV exonic . 0.3116 0.3079 0.3207 -2 +18 3188857 MYOM1 A G 8 0.0894569 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0577 synonymous_SNV exonic . 0.0589 0.0557 0.0462 -2 +18 3188873 MYOM1 G A 7 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 -2 +18 3188976 MYOM1 A G 23 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 -2 +18 3215030 MYOM1 C A 5 0.0730831 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0652 synonymous_SNV exonic . 0.0565 0.0642 0.0665 -2 +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 +18 3215156 MYOM1 C G 2 0.128994 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0979 synonymous_SNV exonic . 0.0858 0.0915 0.0930 -2 +18 3215158 MYOM1 C G 2 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 -2 +18 9117867 NDUFV2 T C 25 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 -2 +18 9119489 NDUFV2 A T 4 0.0750799 . MedGen:C1838979,OMIM:252010|MedGen:CN169374 Mitochondrial_complex_I_deficiency|not_specified Likely_benign 0.1029 synonymous_SNV exonic . 0.1129 0.1060 0.0999 -2 +18 9119489 NDUFV2 A T 4 0.0750799 . MedGen:C1838979,OMIM:252010|MedGen:CN169374 Mitochondrial_complex_I_deficiency|not_specified Likely_benign 0.1029 synonymous_SNV exonic . 0.1129 0.1060 0.0999 -2 +18 19444588 MIB1 C A 1 . . . . . 1.499e-05 synonymous_SNV exonic . . 8.954e-06 . 4 +18 28648071 DSC2 G A 1 0.00159744 . MedGen:C1864850,OMIM:610476|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified Benign/Likely_benign 0.0001 synonymous_SNV exonic . 0.0001 8.964e-05 6.67e-05 0 +18 28648975 DSC2 C T 3 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 -2 +18 28649042 DSC2 T C 3 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 -2 +18 28672067 DSC2 T C 1 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 -2 +18 28673565 DSC2 T C 9 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 -2 +18 29104503 DSG2 T A 1 . . MedGen:C1857777,OMIM:610193 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10 Likely_benign 0.0002 synonymous_SNV exonic . 0.0002 0.0003 0.0001 2 +18 29104698 DSG2 C T 25 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 -6 +18 29104714 DSG2 A G 13 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 -6 +18 29122618 DSG2 G A 2 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 -2 +18 29122692 DSG2 C T 1 0.00319489 . MedGen:C1857777,OMIM:610193|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified Benign 4.496e-05 synonymous_SNV exonic . 0.0001 3.585e-05 6.663e-05 0 +18 29122696 DSG2 A T 1 . -0.410 . . . 1.499e-05 nonsynonymous_SNV exonic T . 1.793e-05 . 4 +18 29122799 DSG2 G A 13 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 -6 +18 29125854 DSG2 A G 13 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 -6 +18 29126670 DSG2 T C 26 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 -6 +18 29172865 TTR G A 3 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 -2 +18 32374041 DTNA G A 1 . . MedGen:CN169374 not_specified Likely_benign . synonymous_SNV exonic . . 8.977e-06 . 4 +18 32374177 DTNA A G 1 . 1.613 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy Uncertain_significance . nonsynonymous_SNV exonic T . . . 4 +18 32470291 DTNA G A 25 0.266973 2.442 MedGen:CN169374 not_specified Benign 0.2485 nonsynonymous_SNV exonic . . 0.2083 0.1994 -2 +18 34156497 FHOD3 A G 2 0.0660942 0.448 . . . 0.0051 nonsynonymous_SNV exonic T 0.0043 0.0053 0.0051 -2 +18 34205551 FHOD3 C T 4 0.0872604 2.410 . . . 0.0594 synonymous_SNV exonic . 0.0604 0.0583 0.0555 -2 +18 34232543 FHOD3 G A 3 0.0165735 -0.091 . . . 0.0383 nonsynonymous_SNV exonic . . 0.0274 0.0249 -2 +18 34232610 FHOD3 C T 18 0.319489 1.357 . . . 0.3083 nonsynonymous_SNV exonic . . 0.2812 0.2817 -2 +18 34232657 FHOD3 G A 13 0.0702875 -0.089 . . . 0.1429 nonsynonymous_SNV exonic . . 0.1779 0.1720 -2 +18 34238099 FHOD3 C T 1 0.000599042 1.651 . . . 0.0003 nonsynonymous_SNV exonic T 0.0001 0.0003 6.665e-05 0 +18 34273279 FHOD3 C G 13 0.0902556 1.318 . . . 0.1783 nonsynonymous_SNV exonic T 0.1810 0.1802 0.1770 -2 +18 34273358 FHOD3 C A 2 0.00179712 . . . . 0.0037 synonymous_SNV exonic . 0.0042 0.0041 0.0037 0 +18 34289142 FHOD3 A G 2 0.014976 -1.504 . . . 0.0385 nonsynonymous_SNV exonic T 0.0335 0.0360 0.0318 -2 +18 34298542 FHOD3 G A 1 0.00379393 3.308 . . . 0.0018 nonsynonymous_SNV exonic T 0.0023 0.0022 0.0017 0 +18 34310668 FHOD3 C T 25 0.319489 . . . . 0.3239 synonymous_SNV exonic . 0.3427 0.3299 0.3368 -2 +18 34324091 FHOD3 G A 23 0.376198 3.145 . . . 0.3054 nonsynonymous_SNV exonic T 0.3263 0.3112 0.3166 -2 +18 34326982 FHOD3 G A 1 0.014976 . . . . 2.999e-05 synonymous_SNV exonic . 0.0002 4.478e-05 0.0001 -2 +19 16591464 CALR3 G A 63 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 -2 +19 16593321 CALR3 C T 1 . . . . . . synonymous_SNV exonic . . . 6.66e-05 4 +19 16593359 CALR3 C T 1 0.0421326 0.011 MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0048 nonsynonymous_SNV exonic T 0.0059 0.0044 0.0038 -2 +19 16593573 CALR3 G A 11 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 +19 16601194 CALR3 C T 63 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 +19 35524824 SCN1B T C 36 0.377596 -0.608 MedGen:CN169374 not_specified Benign 0.4522 nonsynonymous_SNV exonic T 0.3721 0.3838 0.3918 -2 +19 35524939 SCN1B C A 17 0.127396 3.869 MedGen:CN169374 not_specified Benign 0.1818 nonsynonymous_SNV exonic T 0.1455 0.1515 0.1693 -2 +19 35524944 SCN1B G C 17 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 -2 +19 35530073 SCN1B T C 2 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 +19 46273830 DMPK G A 1 . 1.244 . . . . nonsynonymous_SNV exonic T . . . 4 +19 46273830 DMPK G A 1 . 1.244 . . . . nonsynonymous_SNV exonic T . . . 4 +19 46273830 DMPK G A 1 . 1.244 . . . . nonsynonymous_SNV exonic T . . . 4 +19 46274624 DMPK G A 1 0.00559105 3.047 . . . 0.0161 nonsynonymous_SNV exonic T 0.0149 0.0168 0.0170 -2 +19 46275976 DMPK G C 9 0.145168 2.333 MedGen:CN169374 not_specified Benign 0.1182 nonsynonymous_SNV exonic T 0.1129 0.1127 0.1273 -2 +19 47258842 FKRP C T 11 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 -2 +19 47258956 FKRP C T 1 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 -2 +19 47259048 FKRP C G 1 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 1 +19 47259134 FKRP C A 1 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 1 +19 49669370 TRPM4 A G 1 . . . . . 0.0004 synonymous_SNV exonic . 0.0002 0.0002 0.0001 2 +19 49671207 TRPM4 G A 3 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 -2 +19 49671212 TRPM4 T G 3 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 -2 +19 49671281 TRPM4 G A 3 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 -2 +19 49671838 TRPM4 G A 1 . 0.370 . . . 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0001 0 2 +19 49671980 TRPM4 G A 3 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 -2 +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 0 +19 49675017 TRPM4 G T 3 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 -2 +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 -2 +19 49692270 TRPM4 G A 1 . . . . . 1.503e-05 synonymous_SNV exonic . . 2.728e-05 . 4 +19 49699866 TRPM4 C T 6 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 -2 +19 49705249 TRPM4 G A 1 0.0233626 . 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 0.0003 synonymous_SNV exonic . 0.0002 0.0004 0.0003 -2 +19 49714497 TRPM4 C T 2 0.00159744 4.157 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0051 nonsynonymous_SNV exonic T 0.0033 0.0039 0.0042 0 +19 55665410 TNNI3 C T 6 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 -2 +19 55667647 TNNI3 C A 4 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 -2 +20 30408306 MYLK2 C G 5 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 -2 +20 30409452 MYLK2 T C 10 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 -2 +20 30411298 MYLK2 C T 1 0.000599042 6.299 MedGen:C3495498,OMIM:192600|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_1|not_specified Conflicting_interpretations_of_pathogenicity 0.0007 nonsynonymous_SNV exonic T 0.0002 0.0004 0.0032 3 +20 30414503 MYLK2 C T 1 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 -2 +20 30414528 MYLK2 G A 3 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 -2 +20 30414560 MYLK2 C G 10 0.0720847 . . . . 0.0789 . intronic . 0.08 0.0782 0.0654 -2 +20 30414560 MYLK2 C G 10 0.0720847 . . . . 0.0789 . intronic . 0.08 0.0782 0.0654 -2 +20 30414578 MYLK2 G A 4 0.0201677 . . . . 0.0432 . intronic . 0.0469 0.0444 0.0400 -2 +20 30414578 MYLK2 G A 4 0.0201677 . . . . 0.0432 . intronic . 0.0469 0.0444 0.0400 -2 +20 42743454 JPH2 A G 14 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 +20 42744587 JPH2 G C 11 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 +20 42744690 JPH2 C A 1 . 1.679 . . . . nonsynonymous_SNV exonic T . 0 . 4 +20 42744722 JPH2 G A 1 . . . . . . synonymous_SNV exonic . . . . 4 +20 42744802 JPH2 C T 2 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 -2 +20 42747247 JPH2 C T 13 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 1 +20 42747254 JPH2 G A 4 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 +20 42788735 JPH2 C T 1 . 4.748 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D030342,MedGen:C0950123 Hypertrophic_cardiomyopathy|Inborn_genetic_diseases Uncertain_significance 0.0004 nonsynonymous_SNV exonic T . 0.0004 0.0006 2 +20 42815190 JPH2 G A 66 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 +20 61039958 GATA5 T C 44 0.629193 . . . . 0.5152 synonymous_SNV exonic . 0.5094 0.5142 0.5374 -2 +20 61040453 GATA5 C G 42 0.534545 . . . . 0.4912 synonymous_SNV exonic . 0.4841 0.4921 0.5042 -2 +20 61040951 GATA5 C T 41 0.529553 . . . . 0.5459 synonymous_SNV exonic . 0.4776 0.4787 0.4993 -2 +20 61048549 GATA5 G A 45 0.388179 . . . . 0.4679 synonymous_SNV exonic . 0.4344 0.4383 0.4330 -2 +20 61050379 GATA5 T G 12 0.142572 0.113 . . . 0.2407 nonsynonymous_SNV exonic T . 0.1733 0.1805 -2 +21 35742799 KCNE2 A G 1 0.00139776 4.000 MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN221566|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome_6|not_specified|Long_QT_syndrome,_drug-associated|Cardiovascular_phenotype|not_provided Benign 0.0054 nonsynonymous_SNV exonic D 0.0069 0.0060 0.0064 3 +21 35742947 KCNE2 T C 1 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 6 +21 35821821 KCNE1 T C 48 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 -2 +21 35821833 KCNE1 A G 1 . 1.577 . . . 4.513e-05 nonsynonymous_SNV exonic T 0.0001 2.688e-05 . 4 +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 +22 19867771 TXNRD2 C T 12 0.269169 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1620 unknown exonic . 0.1615 0.1619 0.1510 -2 +22 19868218 TXNRD2 A G 65 0.718251 2.110 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.7400 unknown exonic T 0.7377 0.7391 0.7310 -2 +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 -10 +22 19882984 TXNRD2 T G 13 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 -2 +22 19906511 TXNRD2 G A 11 0.168131 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1510 synonymous_SNV exonic . 0.1476 0.1457 0.1431 -2 +22 19907099 TXNRD2 C A 31 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 1 +22 19907118 TXNRD2 G A 42 0.596845 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.5426 synonymous_SNV exonic . 0.4793 0.4826 0.5193 -2 +X 31496350 DMD C T 84 0.881854 2.138 MedGen:CN169374 not_specified Benign 0.9459 nonsynonymous_SNV exonic T 0.9392 0.9407 0.9457 -2 +X 31496398 DMD T C 4 0.0148344 -0.113 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0340 nonsynonymous_SNV exonic T 0.0297 0.0330 0.0318 2 +X 31697636 DMD A G 20 0.181192 . MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1871 synonymous_SNV exonic . 0.2027 0.1943 0.1815 -6 +X 31893307 DMD T G 17 0.183311 1.905 MedGen:CN169374 not_specified Benign 0.2685 . splicing T 0.2178 0.2076 0.2224 6 +X 31986607 DMD G A 5 0.0129801 5.113 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0393 nonsynonymous_SNV exonic T 0.0378 0.0410 0.0404 -3 +X 32305793 DMD C T 1 . 0.749 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0002 nonsynonymous_SNV exonic T . 0.0001 9.508e-05 2 +X 32380996 DMD C T 53 0.465166 6.788 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4823 nonsynonymous_SNV exonic T 0.4770 0.4775 0.4730 -3 +X 32398728 DMD C T 1 0.000529801 2.357 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374 Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified Conflicting_interpretations_of_pathogenicity 0 nonsynonymous_SNV exonic T . 1.255e-05 . 4 +X 32490403 DMD G A 2 0.000264901 6.261 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0003 nonsynonymous_SNV exonic T 0.0004 0.0004 0.0002 5 +X 32503194 DMD T C 54 0.748344 0.631 MedGen:CN169374 not_specified Benign 0.6644 nonsynonymous_SNV exonic T 0.6629 0.6613 0.6750 -2 +X 32509625 DMD A C 1 0.00291391 2.887 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign 0.0116 nonsynonymous_SNV exonic T 0.0083 0.0110 0.0112 -10 +X 32591931 DMD T C 4 0.110464 . MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C0917713,OMIM:300376,Orphanet:ORPHA98895,SNOMED_CT:387732009|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1329 synonymous_SNV exonic . 0.1225 0.1272 0.1269 -6 +X 32591950 DMD C T 1 . 6.992 MedGen:C3668940,OMIM:302045 Dilated_cardiomyopathy_3B Uncertain_significance . nonsynonymous_SNV exonic D . 1.262e-05 . 10 +X 32663135 DMD T G 1 . 4.306 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic T 0.0009 0.0006 0.0005 0 +X 108867996 KCNE5 C T 1 . 7.190 . . . 7.974e-05 nonsynonymous_SNV exonic D . 6.475e-05 9.649e-05 10 +X 108868153 KCNE5 G A 11 0.0519205 -2.020 . . . 0.1836 nonsynonymous_SNV exonic T 0.1424 0.1677 0.1475 -2 +X 119573071 LAMP2 C T 2 0.00238411 2.464 MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN517202 Danon_disease|not_specified|not_provided Benign/Likely_benign 0.0061 nonsynonymous_SNV exonic T 0.0065 0.0069 0.0051 0 +X 119590533 LAMP2 T A 25 0.380927 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4528 synonymous_SNV exonic . 0.4261 0.4100 0.4223 -2 +X 153641619 TAZ C T 2 0.00450331 . . . . 0.0100 . intronic . 0.0089 0.0089 0.0057 0