Mercurial > repos > elixir-it > vinyl_survival
changeset 2:978e043603f7 draft default tip
Uploaded
| author | elixir-it |
|---|---|
| date | Wed, 15 Jul 2020 07:55:47 +0000 |
| parents | 2d8f37e3b774 |
| children | |
| files | survival survival_M.xml test-data/ALL_DCM.csv test-data/VINYL_input1.tabular test-data/VINYL_input2.tabular test-data/output_survival_test test-data/survival_output.tabular test-data/test_DCM.csv |
| diffstat | 6 files changed, 7541 insertions(+), 4181 deletions(-) [+] |
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--- a/survival_M.xml Wed Jun 17 14:22:50 2020 +0000 +++ b/survival_M.xml Wed Jul 15 07:55:47 2020 +0000 @@ -37,9 +37,9 @@ </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" /> + <param format="tabular,csv" name="csv1" value="VINYL_input1.tabular" ftype="tabular" /> + <param format="tabular,csv" name="csv2" value="VINYL_input2.tabular" ftype="tabular" /> + <output name="tabular" file="survival_output.tabular" ftype="tabular" /> </test> </tests> <help>
--- a/test-data/ALL_DCM.csv Wed Jun 17 14:22:50 2020 +0000 +++ /dev/null Thu Jan 01 00:00:00 1970 +0000 @@ -1,3030 +0,0 @@ -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/VINYL_input1.tabular Wed Jul 15 07:55:47 2020 +0000 @@ -0,0 +1,3740 @@ +CHR start gene ref alt AC 1000g2015aug_all AF_nfe CADD_raw CLNDISDB CLNDN CLNSIG ENSEMBLReg ENSTFBS ENSmiRNA ExAC_nontcga_NFE ExonicFunc.refGene Func.refGene GWAS Kaviar_AF MetaSVM_pred ORegAnno_REGULATORY_R ORegAnno_REGULATORY_TFBS ORegmiRNA Polyphen2_HDIV_pred SIFT_pred dbscSNV_ADA_SCORE dbscSNV_RF_SCORE esp6500siv2_ea nCER95 VINYL_score +10 18429624 CACNB2 C A 11 0.0301518 0.0379 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000025190|Promoter . . 0.0458 . UTR5 . 0.026261 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . 0.0316 Name\x3d99.338950 1 +10 18429627 CACNB2 C T 1 0.000199681 . . . . . Name\x3dENSR00000025190|Promoter . . 5.08e-05 . UTR5 . 6.5e-06 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . . Name\x3d99.338950 5 +10 18429839 CACNB2 C T 1 0.000399361 0.0022 . . . . Name\x3dENSR00000025190|Promoter . . . . UTR5 . 0.0010758 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . . Name\x3d99.266735 3 +10 18430167 CACNB2 G C 9 0.00798722 0.0135 . . . . Name\x3dENSR00000025190|Promoter . . 0.0339 . intronic . 0.0074967 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . 0.0274 Name\x3d99.128546 1 +10 18430169 CACNB2 G T 1 0.0091853 . . . . . Name\x3dENSR00000025190|Promoter . . . . intronic . 0.0008085 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . 0.0006 Name\x3d99.128546 3 +10 18430220 CACNB2 G A 34 0.107628 0.1136 . . . . Name\x3dENSR00000025190|Promoter . . . . intronic . 0.0210799 . . Name\x3dOREG1511604|N/A|EGR1|PAZAR . . . . . . Name\x3d97.519956 1 +10 18439747 CACNB2 C T 31 0.0970447 0.1121 . . . . . . . . . intronic . 0.0184862 . . . . . . . . . . -2 +10 18439784 CACNB2 CTTTTTTT C 7 0.0900559 . . MedGen:C2678477,OMIM:611876 Brugada_syndrome_4 Likely_benign . . . 0.0021 . intronic . 0.0008538 . . . . . . . . . . -4 +10 18439900 CACNB2 G A 1 0.000599042 0.0011 6.628 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0015 nonsynonymous_SNV exonic . 0.0007956 D . . . P D . . 0.0009 Name\x3d98.971007 4 +10 18439926 CACNB2 T C 27 0.0632987 0.1094 . . . . . . . 0.1308 . intronic . 0.0965641 . . . . . . . . 0.1213 . -2 +10 18439993 CACNB2 A C 3 0.00179712 0.0055 . . . . . . . . . intronic . 0.0007697 . . . . . . . . . . 4 +10 18691018 CACNB2 G A 116 0.391973 0.5037 . . . . . . . 0.5044 . intronic . 0.0029819 . . . . . . . . 0.5115 Name\x3d98.003371 -1 +10 18691019 CACNB2 C A 2 0.00159744 0.0073 . . . . . . . 0.0097 . intronic . 0.0057891 . . . . . . . . 0.0092 Name\x3d98.003371 1 +10 18787308 CACNB2 C T 1 0.000199681 . 8.208 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 3.88e-05 D . . . D D . . . Name\x3d99.512539 9 +10 18787448 CACNB2 C G 1 0.0792732 0.0030 . . . . . . . 0.0029 . intronic . 0.0226905 . . . . . . . . 0.0030 Name\x3d96.867050 -1 +10 18787485 CACNB2 G A 2 0.000798722 . . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d97.017672 1 +10 18789724 CACNB2 T G 79 0.229832 0.3182 . MedGen:C2678477,OMIM:611876|MedGen:CN169374 Brugada_syndrome_4|not_specified Benign . . . 0.3254 . intronic . 0.275165 . . . . . . . . 0.3157 Name\x3d97.425850 -5 +10 18789924 CACNB2 C G 1 0.000998403 0.0006 . . . . . . . 0.0003 . intronic . 0.0005175 . . . . . . . . 0.0007 . 0 +10 18795351 CACNB2 G T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d96.797939 3 +10 18795447 CACNB2 G C 2 0.00179712 0.0009 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 . 0.0009508 T . . . B D . . 0.0012 Name\x3d99.033629 9 +10 18795555 CACNB2 G A 1 0.000199681 0.0036 . . . . . . . . . intronic . 0.0005369 . . . . . . . . . Name\x3d96.470435 1 +10 18795596 CACNB2 G A 82 0.503395 0.3746 . . . . . . . . . intronic . 0.0555491 . . . . . . . . . Name\x3d95.458555 1 +10 18803338 CACNB2 A G 4 0.014377 0.0777 . . . . . . . 0.0725 . intronic . 0.0491391 . . . . . . . . 0.0767 Name\x3d99.402466 -1 +10 18804094 CACNB2 T C 86 0.409545 0.3633 . . . . . . . . . intronic . 0.0725023 . . . . . . . . . Name\x3d99.013621 1 +10 18807246 CACNB2 G T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d98.772116 3 +10 18816565 CACNB2 G A 1 0.00359425 0.0113 . 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 . . . 0.0110 synonymous_SNV exonic . 0.0074773 . . . . . . . . 0.0124 Name\x3d99.182161 7 +10 18816633 CACNB2 C T 27 0.239417 0.1794 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign/Likely_benign . . . 0.1575 . intronic . 0.206647 . . . . . . . 0.002 0.1603 Name\x3d98.079948 -3 +10 18822993 CACNB2 C T 1 0.000199681 0.0002 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance . . . 0.0003 . intronic . 0.0001552 . . . . . . . . 0.0005 Name\x3d98.771182 1 +10 18825201 CACNB2 T G 4 0.0103834 . . . . . . . . . . intronic . 0.0050715 . . . . . . . . . . -2 +10 18825202 CACNB2 TGG GGG,T 4 0.607827 0.2460 . . . . . . . . . intronic . 0.0389196 . . . . . . . . . . -2 +10 18825203 CACNB2 G T 12 0.0642971 0.0119 . . . . . . . . . intronic . 0.0488704 . . . . . . . . . . -2 +10 18825204 CACNB2 G T 12 0.0642971 . . . . . . . . . . intronic . 0.0489089 . . . . . . . . . . -2 +10 18827336 CACNB2 T C 1 0.000199681 6.492e-05 . . . . . . . 1.872e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 +10 18828191 CACNB2 C T 2 0.00279553 0.0083 2.546 MedGen:C2678477,OMIM:611876|MedGen:CN230736 Brugada_syndrome_4|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0058 synonymous_SNV exonic . 0.0047994 . . . . . . . . 0.0083 Name\x3d98.895652 -3 +10 18828230 CACNB2 T C 2 0.000998403 0.0016 . 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 . . . 0.0015 synonymous_SNV exonic . 0.0010737 . . . . . . . . 0.0024 Name\x3d99.006497 9 +10 18828371 CACNB2 C T 26 0.23722 0.1791 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1573 synonymous_SNV exonic . 0.207184 . . . . . . . . 0.1615 Name\x3d98.755494 -3 +10 18828455 CACNB2 C T 1 0.00778754 0.0001 . 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 . . . 0.0001 synonymous_SNV exonic . 0.002445 . . . . . . . . 0.0002 Name\x3d99.214967 -3 +10 18828486 CACNB2 C G 1 0.00439297 0.0162 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 . . . 0.0144 nonsynonymous_SNV exonic . 0.0099028 D . . . B D . . 0.0170 Name\x3d99.178975 10 +10 18828561 CACNB2 A G 1 0.000199681 . 3.389 MedGen:CN169374 not_specified Uncertain_significance . . . 1.848e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B D . . . Name\x3d99.355753 6 +10 18828635 CACNB2 T G 53 0.0970447 0.1784 2.791 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1832 nonsynonymous_SNV exonic . 0.136467 T . . . B D . . 0.1729 Name\x3d99.331345 -3 +10 18828645 CACNB2 C T 1 0.000998403 . 6.542 MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_4|not_specified|Cardiovascular_phenotype Likely_benign . . . 3.749e-05 nonsynonymous_SNV exonic . 0.0002911 D . . . P D . . . Name\x3d99.267915 0 +10 18828663 CACNB2 G T 173 0.774361 0.7944 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374 Brugada_syndrome|Brugada_syndrome_4|not_specified Benign/Likely_benign . . . 0.7884 . UTR3 . 0.706356 . . . . . . . . . Name\x3d96.448897 -4 +10 18828670 CACNB2 T C 47 0.0756789 0.1966 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Likely_benign . . . 0.2703 . UTR3 . 0.0003816 . . . . . . . . . Name\x3d96.448897 -3 +10 21074724 NEBL T C 12 0.0666933 0.0777 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0738 synonymous_SNV exonic . 0.076836 . . . . . . . . 0.0762 Name\x3d98.000609 -3 +10 21076080 NEBL A C 1 0.000199681 . . . . . . . . 6.936e-05 . intronic . 4.53e-05 . . . . . . . . . . 4 +10 21076100 NEBL C A 12 0.221845 0.0173 . . . . . . . 0.0314 . intronic . 0.0824698 . . . . . . . . 0.0238 . 0 +10 21076285 NEBL C G 22 0.0251597 0.0662 . . . . . . . 0.0774 . intronic . 0.0441197 . . . . . . . . 0.0705 . 0 +10 21076307 NEBL C T 64 0.299521 0.3433 . . . . . . . . . intronic . 0.0658012 . . . . . . . . . . 0 +10 21097556 NEBL G A 1 0.000199681 6.48e-05 14.964 MedGen:CN169374 not_specified Uncertain_significance . . . 1.842e-05 stopgain exonic . 2.59e-05 . . . . . . . . 0.0001 Name\x3d97.303046 13 +10 21098878 NEBL G A 17 0.0834665 0.0015 . . . . . . . 0.0167 . intronic . 0.0027425 . . . . . . . . . . 0 +10 21098879 NEBL G A 43 0.226637 . . . . . . . . . . intronic . 0.0073867 . . . . . . . . . . 0 +10 21101734 NEBL T C 2 0.00139776 0.0022 -0.155 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign/Likely_benign . . . 0.0015 nonsynonymous_SNV exonic . 0.001119 T . . . B T . . 0.0019 Name\x3d97.894752 2.5 +10 21104492 NEBL C T 2 0.000798722 0.0005 . . . . . . . . . intronic . 0.000207 . . . . . . . . . . 2 +10 21104694 NEBL A T 90 0.558906 0.3636 . . . . . . . 0.3820 . intronic . 0.432724 . . . . . . . . 0.3794 . 0 +10 21108377 NEBL C T 57 0.183706 0.3082 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2985 synonymous_SNV exonic . 0.237397 . . . . . . . . 0.2952 Name\x3d96.290753 -3 +10 21112068 NEBL G T 1 0.00159744 0.0055 . . . . . . . . . intronic . 0.0006727 . . . . . . . . . . 2 +10 21112111 NEBL A T 55 0.302117 0.2739 . . . . . . . 0.3138 . intronic . 0.0008085 . . . . . . . . 0.2187 . 0 +10 21112137 NEBL A T 11 0.124601 0.0183 2.904 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0235 nonsynonymous_SNV exonic . 0.0565517 T . . . B T 0.6236 . 0.0224 . -2 +10 21112258 NEBL A C 1 0.00459265 6.483e-05 . . . . . . . 4.066e-05 . intronic . 0.0007697 . . . . . . . . . . 2 +10 21115332 NEBL T C 91 0.558307 0.3660 . . . . . . . 0.3832 . intronic . 0.437006 . . . . . . . . 0.3815 . 0 +10 21115347 NEBL A G 4 0.00559105 0.0095 . . . . . . . 0.0130 . intronic . 0.0096635 . . . . . . . . 0.0131 . 0 +10 21115491 NEBL G T 1 0.000199681 0.0001 . . . . . . . 1.86e-05 . intronic . 4.53e-05 . . . . . . . . . . 4 +10 21117573 NEBL T A 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +10 21120116 NEBL A G 74 0.46905 0.3386 . MedGen:CN169374 not_specified Benign . . . 0.3456 . intronic . 0.379342 . . Name\x3dOREG1485482|N/A|EGR1|PAZAR . . . . . 0.3458 . 1 +10 21129588 NEBL T C 19 0.0449281 0.0742 . . . . . . . . . intronic . 0.0135833 . . . . . . . . . . 0 +10 21134282 NEBL C G 19 0.0385383 0.0742 5.403 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . Name\x3dMIMAT0000273|hsa-miR-216a-5p|Experimental 0.0824 nonsynonymous_SNV exonic . 0.0651544 T . . . P D . . 0.0828 Name\x3d96.362963 1 +10 21139389 NEBL T C 19 0.038738 0.0741 1.032 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0826 nonsynonymous_SNV exonic . 0.0653226 T . . . B T . . 0.0834 Name\x3d97.175997 -1.5 +10 21141398 NEBL G A 5 0.0119808 0.0428 . . . . . . . . . intronic . 0.0073414 . . . . . . . . . . 0 +10 21141429 NEBL G A 1 0.000199681 0.0007 . . . . . . . 0.0012 . intronic . 0.0007374 . . . . . . . . 0.0014 . 2 +10 21141440 NEBL AG A 53 0.252796 0.2585 . . . . . . . 0.2538 . intronic . 0.210573 . . . . . . . . 0.2555 . 0 +10 21141469 NEBL T C 214 0.952476 0.9997 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.9994 . intronic . 0.927161 . . . . . . 0.0008 0.036 0.9994 . -4 +10 21147144 NEBL G A 2 0.0543131 0.0063 . . . . . . . 0.0077 . intronic . 0.0286413 . . Name\x3dOREG1247684|N/A|SMARCA4|PAZAR . . . . . 0.0052 . 1 +10 21148584 NEBL C A 141 0.502995 0.6575 . . . . . . . . . intronic . 0.0001153 . . Name\x3dOREG1247684|N/A|SMARCA4|PAZAR . . . . . . . 1 +10 21157673 NEBL C T 1 0.00139776 0.0022 2.566 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 Conflicting_interpretations_of_pathogenicity . . . 0.0031 nonsynonymous_SNV exonic . 0.0020828 T . . . B T . . 0.0022 Name\x3d97.084069 8.5 +10 21157763 NEBL CAA CA,C 1 0.102835 0.0097 . . . . . . . . . intronic . 0.0003458 . . . . . . . . . . 0 +10 21157774 NEBL AAAAT A 1 0.0517173 0.0014 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +10 21158728 NEBL C T 1 0.000399361 0.0002 1.228 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004 Primary_dilated_cardiomyopathy Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0001358 T . . . B T . . 0.0001 Name\x3d95.313243 6.5 +10 21176945 NEBL G A 196 0.886981 0.9243 . . . . Name\x3dENSR00000942099|Enhancer . . . . intronic . 0.0001153 . . . . . . . . . . 1 +10 21177128 NEBL G C 1 0.000599042 0.0026 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 Name\x3dENSR00000942099|Enhancer . . 0.0020 stopgain exonic . 0.0013066 . . . . . . . . 0.0017 Name\x3d97.406572 16 +10 21177143 NEBL GA GAA,G 1 0.0111821 0.0008 . . . . . . . 0.0008 . intronic . 0.000207 . . . . . . . . . . 0 +10 21177156 NEBL GA G 141 0.540535 0.6548 . . . . . . . 0.6557 . intronic . 0.0027361 . . . . . . . . 0.6444 . 0 +10 21178948 NEBL A T 1 0.0181709 0.0002 . . . . . . . . . intronic . 0.0051099 . . . . . . . . . . 0 +10 21185821 NEBL A C 214 0.923522 0.9957 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +10 21185931 NEBL A G 1 0.00119808 0.0015 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign . . . 0.0014 synonymous_SNV exonic . 0.0017788 . . . . . . . . 0.0008 Name\x3d97.387050 -1 +10 21185974 NEBL G A 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +10 21250698 NEBL T C 1 0.000199681 . 2.461 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . Name\x3d98.241792 6.5 +10 21309211 NEBL C T 5 0.00539137 0.0163 . . . . . . . . . intronic . 0.002542 . . . . . . . . . . 0 +10 21461232 NEBL G A 30 0.230232 0.1573 . . . . . . . . . intronic . 0.0331173 . . Name\x3dOREG1629430|N/A|FOXA1|PAZAR,OREG1570644|N/A|FOXA1|PAZAR . . . . . . . 1 +10 21461237 NEBL T A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . Name\x3dOREG1629430|N/A|FOXA1|PAZAR,OREG1570644|N/A|FOXA1|PAZAR . . . . . . . 5 +10 21461410 NEBL G GA 53 0.353634 0.2050 . MedGen:CN169374 not_specified not_provided Name\x3dENSR00000025357|Promoter . . 0.2169 . intronic . 0.0003687 . . Name\x3dOREG1629430|N/A|FOXA1|PAZAR,OREG1570644|N/A|FOXA1|PAZAR . . . . . . Name\x3d97.993913 3 +10 21462769 NEBL G A 3 0.0163738 0.0036 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000025357|Promoter . . 0.0043 . UTR5 . 0.0074902 . . Name\x3dOREG1485481|N/A|EGR1|PAZAR . . . . . 0.0052 Name\x3d96.265883 3 +10 21462878 NEBL G A 3 0.0163738 0.0035 . . . . Name\x3dENSR00000025357|Promoter . . . . UTR5 . 0.0009961 . . Name\x3dOREG1485481|N/A|EGR1|PAZAR . . . . . . . 2 +10 67726514 CTNNA3 A C 56 0.352636 0.3131 . MedGen:CN169374 not_specified Benign . . . 0.3021 . intronic . 0.334142 . . . . . . 0.0057 0.262 0.3110 . -2 +10 67748412 CTNNA3 G A 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d95.768403 3 +10 68040240 CTNNA3 G T 4 0.0690895 0.0164 . MedGen:C3810138,OMIM:615616|MedGen:CN169374 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13|not_specified Benign . . . 0.0210 synonymous_SNV exonic . 0.0360862 . . . . . . . . 0.0205 Name\x3d99.558760 -5 +10 68040325 CTNNA3 C T 80 0.485024 0.3875 0.202 . . . . . . 0.3745 nonsynonymous_SNV exonic . 0.404141 T . . . B T . . 0.3621 Name\x3d99.280767 0.5 +10 68139038 CTNNA3 C T 1 0.000199681 0.0001 3.955 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Uncertain_significance Name\x3dENSR00000945668|Enhancer . . 0.0002 nonsynonymous_SNV exonic . 0.00011 T . . . D T . . 0.0002 Name\x3d99.468039 4 +10 68139039 CTNNA3 G A 1 0.00499201 0.0135 4.125 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign Name\x3dENSR00000945668|Enhancer . . 0.0165 nonsynonymous_SNV exonic . 0.0114552 T . . . D T . . 0.0151 Name\x3d99.468039 -4 +10 68139142 CTNNA3 G A 39 0.0940495 0.1746 . . . . Name\x3dENSR00000945668|Enhancer . . 0.1771 . intronic . 0.15254 . . . . . . . . 0.1845 . -1 +10 68381592 CTNNA3 T C 3 0.00239617 0.0038 . . . . . . . 0.0042 . intronic . 0.0026002 . . . . . . . . 0.0042 . 4 +10 68381615 CTNNA3 A T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +10 68535233 CTNNA3 A G 1 0.000199681 . 2.979 . . . . . . 1.843e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d99.731773 6 +10 68979342 CTNNA3 A T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 2 +10 68979343 CTNNA3 C G 14 0.187899 0.1162 . . . . . . . 0.1136 . intronic . 0.12496 . . . . . . . . 0.1072 . -2 +10 68979636 CTNNA3 G A 1 0.000798722 0.0023 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign . . . 0.0024 . intronic . 0.0015071 . . . . . . . . 0.0020 Name\x3d96.575495 -3 +10 69281585 CTNNA3 A C 18 0.187101 0.1358 . . . . . . . 0.1131 . intronic . 0.156149 . . . . . . . . 0.1113 Name\x3d98.330022 -1 +10 69281701 CTNNA3 A T 7 0.0113818 0.0262 2.461 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign . . . 0.0257 nonsynonymous_SNV exonic . 0.0220114 T . . . D T . . 0.0253 Name\x3d99.260389 -5 +10 69281732 CTNNA3 A G 15 0.0593051 0.0525 . MedGen:CN169374 not_specified Benign . . . 0.0530 . intronic . 0.000304 . . . . . . . . 0.0592 Name\x3d98.891749 -1 +10 69299192 CTNNA3 C T 5 0.0179712 0.0640 . . . . . . . . . intronic . 0.0082017 . . . . . . . . . . -2 +10 69299372 CTNNA3 T G 4 0.0147764 0.0170 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign . . . 0.0178 synonymous_SNV exonic . 0.0173154 . . . . . . . . 0.0226 Name\x3d99.183406 -5 +10 69299446 CTNNA3 T A 24 0.195487 0.0957 . MedGen:CN169374 not_specified Benign . . . 0.1056 . intronic . 0.128957 . . . . . . . . 0.1024 Name\x3d96.936138 -1 +10 69366602 CTNNA3 T C 58 0.529952 0.2882 . MedGen:CN169374 not_specified Benign . . . 0.2907 . intronic . 0.367052 . . . . . . . . 0.2893 Name\x3d98.839083 -1 +10 69407239 CTNNA3 G A 1 0.000399361 0.0018 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign . . . 0.0029 synonymous_SNV exonic . 0.0018434 . . . . . . . . 0.0035 Name\x3d99.248734 -3 +10 69407254 CTNNA3 T A 1 0.000199681 6.482e-05 . . . . . . . 0.0002 synonymous_SNV exonic . 0.0001552 . . . . . . . . 0.0002 Name\x3d99.482270 3 +10 69882040 MYPN A G 1 0.000199681 0.0002 5.735 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype Uncertain_significance . . . 0.0003 nonsynonymous_SNV exonic . 0.0001488 D . . . D D . . 0.0002 Name\x3d99.776413 11 +10 69902919 MYPN T C 4 0.114217 0.0469 . . . . Name\x3dENSR00000945768|Enhancer . . 0.0458 . intronic . 0.0002652 . . . . . . . . 0.0477 Name\x3d95.540898 2 +10 69905300 MYPN G A 28 0.295927 0.0749 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign . . . 0.0777 . intronic . 0.150645 . . . . . . . . 0.0807 Name\x3d98.096456 -3 +10 69905411 MYPN T C 1 0.000599042 0.0003 . . . . . . . . . intronic . 3.23e-05 . . . . . . . . . . 2 +10 69908063 MYPN A T 6 0.0577077 0.0168 . . . . . . . 0.0148 . intronic . 0.0247862 . . . . . . . . 0.0126 . 0 +10 69908157 MYPN T C 6 0.120607 0.0176 0.535 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0149 nonsynonymous_SNV exonic . 0.043861 T . . . B T . . 0.0147 Name\x3d99.271525 -5.5 +10 69908241 MYPN G A 22 0.121605 0.0560 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign . . . 0.0616 . intronic . 0.0893714 . . Name\x3dOREG1522046|N/A|ESR1|PAZAR . . . . . 0.0643 . -3 +10 69909756 MYPN T C 4 0.0946486 0.0327 . . . . . . . 0.0313 . intronic . 0.0528518 . . . . . . . . 0.0344 Name\x3d95.779753 1 +10 69909802 MYPN G A 14 0.0842652 0.0792 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0888 synonymous_SNV exonic . 0.0840093 . . . . . . . . 0.0826 Name\x3d99.405156 -3 +10 69909844 MYPN C A 1 0.00199681 0.0006 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0009 synonymous_SNV exonic . 0.0008085 . . . . . . . . 0.0008 Name\x3d99.385616 -1 +10 69909899 MYPN G A 15 0.14996 0.0799 . . . . . . . 0.0902 . intronic . 0.100943 . . . . . . . . 0.0826 Name\x3d98.669119 1 +10 69918442 MYPN CACTT C 4 0.0379393 0.0167 . . . . . . . . . intronic . 0.003381 . . . . . . . . . Name\x3d96.509998 1 +10 69925596 MYPN G C 1 0.00199681 0.0115 . MedGen:C3714995,OMIM:615248 Dilated_cardiomyopathy_1KK Benign . . . 0.0121 . intronic . 0.0074773 . . . . . . . . 0.0095 Name\x3d97.725426 -3 +10 69926097 MYPN T C 140 0.482628 0.7086 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.6848 synonymous_SNV exonic . 0.621331 . . . . . . . . 0.6960 Name\x3d99.444903 -3 +10 69926319 MYPN C A 49 0.116613 0.1619 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.1672 synonymous_SNV exonic . 0.155037 . . . . . . . . 0.1735 Name\x3d98.867298 -3 +10 69926325 MYPN C T 53 0.157748 0.1787 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.1813 synonymous_SNV exonic . 0.176531 . . . . . . . . 0.1866 Name\x3d99.063706 -3 +10 69926334 MYPN C G 87 0.316494 0.5293 0.756 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.5025 nonsynonymous_SNV exonic . 0.435596 T . . . B T . . 0.5095 Name\x3d99.204429 -1.5 +10 69933921 MYPN G A 85 0.335863 0.4997 0.657 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.4796 nonsynonymous_SNV exonic . 0.431191 T . . . B T . . 0.48 Name\x3d99.388223 -1.5 +10 69933969 MYPN G A 85 0.32508 0.4990 1.882 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.4790 nonsynonymous_SNV exonic . 0.422659 T . . . B T . . 0.4798 Name\x3d99.151452 -1.5 +10 69934012 MYPN C A 4 0.0429313 0.0163 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0140 synonymous_SNV exonic . 0.0226258 . . . . . . . . 0.0123 Name\x3d99.701038 -7 +10 69934258 MYPN C G 108 0.471446 0.5668 2.029 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.5518 nonsynonymous_SNV exonic . 0.512788 T . . . P D . . 0.5509 Name\x3d99.421069 -3 +10 69934259 MYPN G A 4 0.0103834 0.0247 2.875 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0280 nonsynonymous_SNV exonic . 0.0191589 T . . . P D . . 0.035 Name\x3d99.421069 -7 +10 69934467 MYPN A G 164 0.817093 0.8178 . . . . . . . . . intronic . 0.157818 . . . . . . . . . . 0 +10 69935059 MYPN A G 139 0.547524 0.7210 . . . . . . . 0.7117 . intronic . 0.641706 . . . . . . . . 0.7103 Name\x3d98.698597 1 +10 69935062 MYPN T G 1 0.00519169 . . . . . . . . 0.0015 . intronic . 0.0001682 . . . . . . . . . Name\x3d99.128106 3 +10 69935235 MYPN T C 214 0.982428 0.9997 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign . . . 0.9996 . intronic . 0.951864 . . . . . . . . 0.9990 Name\x3d97.211278 -3 +10 69948844 MYPN T C 214 0.984625 0.9998 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.9997 synonymous_SNV exonic . 0.948526 . . . . . . . . 0.9994 Name\x3d99.672016 1 +10 69948892 MYPN G C 2 0.0141773 0.0019 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign . . . 0.0025 . intronic . 0.0055497 . . . . . . . . 0.0019 Name\x3d97.871692 -3 +10 69954090 MYPN A G 4 0.00678914 0.0230 . . . . . . . 0.0208 . intronic . 0.0162546 . . . . . . . . 0.0199 . 0 +10 69954290 MYPN G A 85 0.35603 0.4992 . . . . . . . 0.4839 . intronic . 0.431812 . . . . . . . . 0.4774 Name\x3d98.979848 1 +10 69954301 MYPN C T 42 0.117812 0.1527 . . . . . . . 0.1608 . intronic . 0.144739 . . . . . . . . 0.1633 Name\x3d99.137292 3 +10 69955140 MYPN T A 131 0.48143 0.6754 . . . . . . . . . intronic . 0.0001921 . . . . . . . . . . 0 +10 69957279 MYPN T G 1 0.000599042 6.579e-05 . . . . . . . 0.0001 . intronic . 9.06e-05 . . Name\x3dOREG1412240|N/A|E2F1|PAZAR . . . . . 0.0002 Name\x3d96.261007 4 +10 69959097 MYPN G T 145 0.538139 0.7553 . . . . . . . 0.7452 . intronic . 0.663543 . . . . . . . . 0.7473 Name\x3d99.134722 1 +10 69959174 MYPN C T 2 0.00259585 0.0021 5.849 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C3714995,OMIM:615248|MedGen:C3714998|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1KK|Familial_hypertrophic_cardiomyopathy_22|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0033 nonsynonymous_SNV exonic . 0.002846 T . . . D T . . 0.0024 Name\x3d99.608949 14 +10 69959242 MYPN C A 85 0.340256 0.5001 6.536 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.4803 nonsynonymous_SNV exonic . 0.432582 T . . . D D . . 0.4786 Name\x3d99.605475 -4 +10 69959281 MYPN G C 1 0.000199681 . 6.922 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.635210 11 +10 69959345 MYPN GCTGGGA G 85 0.358227 0.4937 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C3714995,OMIM:615248|MedGen:CN169374 Cardiomyopathy|Dilated_cardiomyopathy_1KK|not_specified Benign . . . 0.4697 . intronic . 0.012613 . . . . . . . . 0.4553 Name\x3d98.130942,98.994558 -7 +10 69959397 MYPN G A 85 0.358227 0.5003 . . . . . . . . . intronic . 0.0865966 . . . . . . . . . Name\x3d96.735011 1 +10 69961805 MYPN G A 3 0.00678914 0.0138 . . . . . . . . . intronic . 0.0127939 . . Name\x3dOREG0549335|N/A|CEBPB|JASPAR . . . . . . . 1 +10 69966602 MYPN G A 2 0.000399361 0.0001 . . . . . . . 3.681e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d99.610949 5 +10 69969986 MYPN C T 77 0.285743 0.3130 . . . . . . . . . intronic . 0.0597146 . . . . . . . . . . 0 +10 69969987 MYPN G A 2 0.00898562 0.0019 . . . . . . . . . intronic . 0.0006015 . . . . . . . . . . 2 +10 75834538 VCL C T 1 0.000599042 0.0014 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . Name\x3dMIMAT0004515|hsa-miR-29b-2-5p|Experimental 0.0012 synonymous_SNV exonic . 0.0007891 . . . . . . . . 0.0010 Name\x3d99.114408 0 +10 75842152 VCL G A 71 0.511182 0.3762 . . . . . . . . . intronic . 0.080704 . . . . . . . . . Name\x3d98.537528 1 +10 75843100 VCL T A 108 0.780751 0.5464 . MedGen:CN169374 not_specified Benign . . . 0.5349 . intronic . 0.628439 . . . . . . . . 0.5227 Name\x3d99.094034 1 +10 75849921 VCL T C 1 0.00199681 0.0047 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype Benign . . . 0.0059 synonymous_SNV exonic . 0.0044825 . . . . . . . . 0.0056 Name\x3d99.392980 -5 +10 75849991 VCL C A 1 0.0249601 0.0034 . . . . . . . 0.0045 . intronic . 0.0093078 . . . . . . . . 0.0035 . 0 +10 75855541 VCL C T 1 0.00319489 0.0023 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0029 synonymous_SNV exonic . 0.0044178 . . . . . . . . 0.0015 Name\x3d99.561477 11 +10 75863750 VCL C T 167 0.500998 0.7184 . . . . . . . . . intronic . 0.126143 . . . . . . . . . Name\x3d98.852024 1 +10 75865065 VCL G A 132 0.324681 0.5805 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . Name\x3dMIMAT0004559|hsa-miR-181c-3p|Experimental,MIMAT0000761|hsa-miR-324-5p|Experimental 0.5837 synonymous_SNV exonic . 0.479573 . . . . . . . . 0.5895 Name\x3d99.805936 0 +10 75865095 VCL A G 7 0.0365415 . . MedGen:CN230736 Cardiovascular_phenotype Likely_benign . . . . synonymous_SNV exonic . 0.0011837 . . . . . . . . . Name\x3d99.809405 -1 +10 75865159 VCL C T 16 0.0157748 0.0545 . . . . . . . 0.0566 . intronic . 0.0391974 . . . . . . . . 0.0610 Name\x3d98.066364 1 +10 75866929 VCL C A 133 0.400958 0.5858 . . . . . . . . . intronic . 0.0208237 . . Name\x3dOREG1182812|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.346867 3 +10 75871735 VCL C G 170 0.623003 0.7456 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.7401 synonymous_SNV exonic . 0.656072 . . . . . . . . 0.7521 Name\x3d99.730915 -1 +10 75873892 VCL C T 133 0.400958 0.5865 . . . . Name\x3dENSR00000946465|Enhancer . . 0.5897 . intronic . 0.495847 . . . . . . . . 0.5953 Name\x3d98.535256 3 +10 75873920 VCL C G 1 0.00279553 0.0108 . . . . Name\x3dENSR00000946465|Enhancer . . 0.0107 . intronic . 0.0073479 . . . . . . . . 0.0124 Name\x3d99.493086 2 +10 75874190 VCL T C 2 0.0125799 0.0041 . . . . . . . 0.0036 . intronic . 0.0008991 . . . . . . . . . . 0 +10 75874192 VCL T C 126 0.382788 0.5380 . . . . . . . 0.4783 . intronic . 0.0001294 . . . . . . . . . Name\x3d96.454468 1 +10 75874667 VCL A T 1 0.000998403 0.0043 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1W|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0057 . intronic . 0.0022574 . . . . . . . . 0.0038 Name\x3d97.871381 11 +10 88439094 LDB3 G A 1 0.000798722 0.0038 . . . . . . . 0.0023 . intronic . 0.0017141 . . Name\x3dOREG1768642|N/A|MITF|PAZAR,OREG1861631|N/A|SPI1|PAZAR . . . . . 0.0028 Name\x3d99.456162 4 +10 88439175 LDB3 G C 1 0.000199681 6.485e-05 5.907 . . . . . . 3.68e-05 nonsynonymous_SNV exonic . 3.23e-05 T . Name\x3dOREG1861631|N/A|SPI1|PAZAR,OREG1768642|N/A|MITF|PAZAR . D D . . . Name\x3d99.816619 9 +10 88439866 LDB3 G A 1 0.00439297 6.487e-05 . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 5.522e-05 synonymous_SNV exonic . 0.0024644 . . . . . . . . 0.0002 Name\x3d99.713696 1 +10 88440018 LDB3 G A 9 0.0726837 0.0365 . . . . . . . . . intronic . 0.0571692 . . . . . . . . . . 0 +10 88441223 LDB3 G A 2 0.00159744 0.0067 1.436 MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0073 nonsynonymous_SNV exonic . 0.0046248 T . Name\x3dOREG1176609|N/A|TFAP2C|PAZAR . B T . . 0.0070 Name\x3d99.840456 3.5 +10 88441269 LDB3 C T 1 0.000199681 . -1.218 MedGen:CN169374 not_specified Likely_benign . . . 7.588e-05 nonsynonymous_SNV exonic . 3.88e-05 T . Name\x3dOREG1176609|N/A|TFAP2C|PAZAR . B T . . 0.0001 Name\x3d99.519844 7.5 +10 88441437 LDB3 C T 2 0.000599042 0.0005 1.083 MedGen:C1832244,OMIM:601493|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN229629|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Familial_hypertrophic_cardiomyopathy_24|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0005886 T . . . B T . . 0.0002 Name\x3d99.723768 12.5 +10 88441527 LDB3 G A 1 0.000199681 . 4.708 MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374 Myofibrillar_myopathy,_ZASP-related|not_specified Uncertain_significance . . . 7.583e-05 nonsynonymous_SNV exonic . 4.53e-05 T . . . D T . . . Name\x3d99.898982 5 +10 88445385 LDB3 G C 150 0.624201 0.7450 . MedGen:CN169374 not_specified Benign . . . 0.7435 . intronic . 0.0040297 . . . . . . . . 0.7528 Name\x3d98.723784 1 +10 88446811 LDB3 G A 9 0.0613019 0.0408 . 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 . . . 0.0357 . intronic . 0.0407369 . . . . . . . . 0.0396 Name\x3d99.516757 -1 +10 88446830 LDB3 G A 2 0.00778754 0.0031 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 . . . 0.0042 nonsynonymous_SNV exonic . 0.0042173 T . . . B D . . 0.0040 Name\x3d99.869135 11 +10 88446985 LDB3 T C 9 0.0567093 0.0410 . 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 . . . 0.0355 synonymous_SNV exonic . 0.0406657 . . . . . . . . 0.0407 Name\x3d99.899103 0 +10 88447076 LDB3 A T 2 0.00479233 0.0025 . . . . . . . 0.0022 . intronic . 0.0021863 . . . . . . . . 0.0035 Name\x3d98.306648 3 +10 88447082 LDB3 A C 9 0.0439297 0.0407 . . . . . . . . . intronic . 0.0073026 . . . . . . . . . Name\x3d98.534907 2 +10 88451649 LDB3 A G 2 0.0061901 0.0025 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0022 . intronic . 0.0026002 . . . . . . 0.0001 . 0.0038 Name\x3d99.150170 7 +10 88451715 LDB3 A G 1 0.0171725 0.0012 3.610 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0011 nonsynonymous_SNV exonic . 0.0063195 T . . . D T . . 0.0010 Name\x3d99.835354 -1 +10 88451869 LDB3 G C 34 0.241214 0.1274 . MedGen:CN169374 not_specified Benign . . . 0.1311 . intronic . 0.174124 . . . . . . . . 0.1154 Name\x3d98.097764 1 +10 88452190 LDB3 G A 1 0.000998403 0.0032 . . . . . . . . . intronic . 0.0004334 . . . . . . . . . . 2 +10 88452258 LDB3 G A 6 0.00259585 0.0027 . . . . . . . 0.0061 . intronic . 0.0036934 . . . . . . . . 0.0038 Name\x3d98.713266 11 +10 88458996 LDB3 TTCTCTCTC CTCTCTCTC,TTCTCTC,TTCTC,TTC,T 6 0.0501198 0.0006 . . . . . . . 0.0284 . intronic . 0.000194 . . . . . . . . . Name\x3d99.611455,99.696200 1 +10 88459000 LDB3 C G 2 0.0301518 . . . . . . . . . . intronic . 0.0013907 . . . . . . . . . Name\x3d99.696200 1 +10 88459002 LDB3 C T 2 0.0301518 . . . . . . . . 0.0002 . intronic . 0.0013777 . . . . . . . . . Name\x3d99.611455 1 +10 88459050 LDB3 G A 1 0.000798722 0.0005 . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 synonymous_SNV exonic . 0.0008279 . . Name\x3dOREG1289486|N/A|CEBPA|PAZAR . . . . . 0.0001 Name\x3d99.910619 8 +10 88459055 LDB3 G A 1 0.000199681 . 2.444 . . . . . . 3.68e-05 nonsynonymous_SNV exonic . 1.94e-05 T . Name\x3dOREG1289486|N/A|CEBPA|PAZAR . B T . . . Name\x3d99.933432 7.5 +10 88459066 LDB3 C T 1 0.000199681 6.494e-05 2.712 MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN517202 Myofibrillar_myopathy,_ZASP-related|not_provided Uncertain_significance . . . 1.84e-05 nonsynonymous_SNV exonic . 2.59e-05 T . Name\x3dOREG1289486|N/A|CEBPA|PAZAR . D D . . 0.0001 Name\x3d99.888298 9 +10 88466465 LDB3 C T 12 0.0201677 0.0485 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0498 synonymous_SNV exonic . 0.0339388 . . . . . . . . 0.0369 Name\x3d99.132953 -3 +10 88469831 LDB3 G A 2 0.00698882 0.0127 . . . . . . . 0.0079 . intronic . 0.0064747 . . . . . . . . 0.0072 Name\x3d99.207180 1 +10 88469837 LDB3 C G 6 0.0385383 0.0399 . MedGen:CN169374 not_specified Likely_benign . . . 0.0355 . intronic . 0.0324575 . . . . . . . . 0.0357 Name\x3d99.207180 1 +10 88476105 LDB3 C G 1 0.000199681 0.0001 4.244 MedGen:C0340427,Orphanet:ORPHA217607|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Familial_dilated_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0001035 T . . . D T . . 0.0001 Name\x3d99.752876 5 +10 88477932 LDB3 CAT C 1 0.00798722 . . . . . . . . 0.0004 . intronic . 0.0024321 . . . . . . . . 0.0004 . 2 +10 88485858 LDB3 C T 2 0.00439297 0.0017 . . . . . . . 0.0018 . intronic . 0.002044 . . . . . . . . 0.0027 . 2 +10 92672564 ANKRD1 T C 92 0.354233 0.4788 . MedGen:CN239310 Dilated_Cardiomyopathy,_Dominant Likely_benign . . . . . UTR3 . 0.0868359 . . . . . . . . . . -2 +10 92675649 ANKRD1 GA G 39 0.178714 0.1706 . MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.1653 . intronic . 0.0044243 . . . . . . . . 0.1575 . -2 +10 92675857 ANKRD1 G A 16 0.0621006 0.0270 . . . . . . . . . intronic . 0.005194 . . . . . . . . . . 0 +10 92678728 ANKRD1 G A 1 0.000798722 0.0003 3.758 MedGen:CN119551|MedGen:CN169374|MedGen:CN230736 ANKRD1-related_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype Uncertain_significance Name\x3dENSR00000411683|Promoter . . 0.0002 nonsynonymous_SNV exonic . 0.0001488 T . . . P T 0.9791 0.746 0.0001 Name\x3d97.883274 6.5 +10 92678744 ANKRD1 A T 170 0.810104 0.0083 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000411683|Promoter . . 0.0111 . intronic . 0.0436799 . . . . . . . . . . -1 +10 92678747 ANKRD1 A G 92 0.357827 . . . . . Name\x3dENSR00000411683|Promoter . . . . intronic . 0.0116881 . . . . . . . . . . 1 +10 92678748 ANKRD1 A T 169 0.784545 0.0602 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign Name\x3dENSR00000411683|Promoter . . 0.0446 . intronic . 0.0038874 . . . . . . . . . . 1 +10 92678761 ANKRD1 A C 4 0.00419329 . . . . . Name\x3dENSR00000411683|Promoter . . . . intronic . 0.0001358 . . . . . . . . . . 7 +10 92678762 ANKRD1 T A 4 0.00419329 . . . . . Name\x3dENSR00000411683|Promoter . . . . intronic . 0.0002587 . . . . . . . . . . 7 +10 92678764 ANKRD1 T A 4 0.00419329 . . . . . Name\x3dENSR00000411683|Promoter . . . . intronic . 0.0001358 . . . . . . . . . . 7 +10 92678765 ANKRD1 A G 112 0.441094 0.5533 . . . . Name\x3dENSR00000411683|Promoter . . 0.6760 . intronic . 0.428274 . . . . . . . . . . 1 +10 92678789 ANKRD1 T C 5 0.00319489 0.0085 . . . . Name\x3dENSR00000411683|Promoter . . . . intronic . 0.0014036 . . . . . . . . . . 11 +10 92680886 ANKRD1 G A 1 0.000998403 0.0002 . MedGen:CN239310 Dilated_Cardiomyopathy,_Dominant Uncertain_significance Name\x3dENSR00000411683|Promoter . . . . UTR5 . 0.0001921 . . Name\x3dOREG1645377|N/A|FOXA1|PAZAR,OREG1180501|N/A|TFAP2C|PAZAR,OREG1586947|N/A|FOXA1|PAZAR,OREG1670379|N/A|GATA2|PAZAR,OREG1891617|N/A|STAT1|PAZAR . . . . . . Name\x3d97.369042 5 +10 101473218 COX15 A G 188 0.827077 0.8812 0.914 MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED_CT:67434000|MedGen:CN169374|MedGen:CN517202 Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency|not_specified|not_provided Benign . . . 0.8731 nonsynonymous_SNV exonic . 0.843488 T . . . B T . . 0.8733 . -0.5 +10 101474499 COX15 T C 50 0.233427 0.3223 . . . . . . . 0.2825 . intronic . 0.256614 . . . . . . . . 0.2957 . -1 +10 101487354 COX15 G T 1 0.000599042 0.0022 . . . . . . . 0.0026 . intronic . 0.0015459 . . . . . . . . 0.0033 . 0 +10 112404302 RBM20 G A 32 0.222244 0.1405 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000033358|Promoter . . 0.1268 synonymous_SNV exonic . 0.0450188 . . . . . . . . . Name\x3d99.728733 0 +10 112541062 RBM20 G A 1 0.0271565 0.0006 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 . . . 0.0024 nonsynonymous_SNV exonic . 0.002542 T . Name\x3dOREG1515382|N/A|EGR1|PAZAR . D D . . 0.0016 Name\x3d99.772611 1 +10 112541073 RBM20 T C 1 0.000199681 . -0.375 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1515382|N/A|EGR1|PAZAR,OREG1528648|N/A|ESR1|PAZAR . B T . . . Name\x3d99.808133 7.5 +10 112541335 RBM20 A G 1 0.000199681 . -0.710 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1515382|N/A|EGR1|PAZAR . B T . . . Name\x3d99.868653 7.5 +10 112541676 RBM20 T C 52 0.132987 0.2941 . . . . . . . 0.2642 . intronic . 0.0663575 . . . . . . . . 0.2788 Name\x3d97.503030 1 +10 112541678 RBM20 G A 52 0.132987 0.2937 . . . . . . . 0.2641 . intronic . 0.0656719 . . . . . . . . . Name\x3d97.503030 1 +10 112543217 RBM20 G A 153 0.788139 0.8054 . . . . . . . 0.7941 . intronic . 0.263664 . . . . . . . . 0.7879 . 0 +10 112544042 RBM20 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +10 112544063 RBM20 A C 109 0.633986 0.5766 . . . . . . . 0.5832 . intronic . 0.189073 . . . . . . . . 0.5698 . 0 +10 112544244 RBM20 G A 2 0.00778754 0.0035 . . . . . . . . . intronic . 0.0062241 . . . . . . . . 0.0066 Name\x3d95.775845 3 +10 112544505 RBM20 G T 4 0.00139776 0.0033 . . . . . . . 0.0132 . intronic . 0.0009896 . . . . . . . . . . 0 +10 112544655 RBM20 C T 41 0.164137 0.2280 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.2057 . intronic . 0.0562541 . . . . . . . . 0.2200 Name\x3d98.560524 -1 +10 112559490 RBM20 C A 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 4 +10 112559652 RBM20 G A 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.842735 5 +10 112570130 RBM20 G C 5 0.0365415 0.0222 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0268 . intronic . 0.0121538 . . . . . . . 0.024 0.0245 Name\x3d99.309749 -3 +10 112570147 RBM20 G A 1 0.000199681 0.0002 7.468 MedGen:C2750995,OMIM:613172|MedGen:CN230736 Dilated_cardiomyopathy_1DD|Cardiovascular_phenotype Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.751411 11 +10 112570243 RBM20 T C 91 0.316494 0.3712 . . . . Name\x3dENSR00000949941|Enhancer . . 0.3967 . intronic . 0.11276 . . . . . . . . 0.3755 Name\x3d98.073799 2 +10 112572147 RBM20 C T 1 0.000998403 0.0020 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0038 synonymous_SNV exonic . 0.0004722 . . . . . . . . . Name\x3d99.872771 11 +10 112572458 RBM20 G C 214 0.991014 0.9997 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000415671|Enhancer . . 0.9998 nonsynonymous_SNV exonic . 0.31257 . . Name\x3dOREG1416621|N/A|E2F1|PAZAR . . . . . 0.9994 Name\x3d99.800262 0.5 +10 112579791 RBM20 C T 1 0.000798722 0.0003 . . . . . . . 0.0011 . intronic . 0.0001876 . . . . . . . . . Name\x3d98.602422 3 +10 112583178 RBM20 ATGTTGTATTTCTT A 1 0.00359425 . . . . . . . . . . intronic . 0.0001164 . . Name\x3dOREG1193056|N/A|TFAP2C|PAZAR,OREG1601177|N/A|FOXA1|PAZAR,OREG1659450|N/A|FOXA1|PAZAR . . . . . . Name\x3d97.877816,96.419048 4 +10 112583294 RBM20 G A 3 0.00199681 0.0043 3.854 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0111 nonsynonymous_SNV exonic . 0.0010349 T . Name\x3dOREG1659450|N/A|FOXA1|PAZAR,OREG1601177|N/A|FOXA1|PAZAR . P D . . 0.0053 Name\x3d99.715618 -2 +10 112590778 RBM20 G C 1 0.0407348 0.0005 . . . . . . . 0.0005 . intronic . 0.0041073 . . . . . . . . 0.0013 Name\x3d95.774143 1 +10 112590810 RBM20 G C 214 0.969649 0.9999 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.9996 . intronic . 0.305209 . . . . . . . . 0.9994 . -4 +10 112590980 RBM20 C T 1 0.000199681 0.0005 . . . . . . . 0.0002 . intronic . 0.0001617 . . . . . . . . . . 2 +10 112595719 RBM20 G C 172 0.697085 0.8763 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 Name\x3dENSR00000415679|Promoter . . 0.8684 nonsynonymous_SNV exonic . 0.0048447 T . . . P D . . 0.8724 Name\x3d99.609389 1 +10 121429394 BAG3 G A 7 0.00738818 0.0354 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 . . . 0.0298 nonsynonymous_SNV exonic . 0.0204525 T . . . B T . . 0.0326 Name\x3d99.819489 -1.5 +10 121429412 BAG3 C T 1 0.000199681 0.0003 0.270 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0005 nonsynonymous_SNV exonic . 0.0002587 T . . . B T . . 0.0006 Name\x3d99.281516 8.5 +10 121429633 BAG3 T C 34 0.0964457 0.2060 4.176 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign . . . 0.2235 nonsynonymous_SNV exonic rs2234962|Idiopathic-dilated-cardiomyopathy|1.52|4E-12|PMID:21459883 0.174092 T . . . P D . . 0.2073 Name\x3d99.802511 -2 +10 121429645 BAG3 G A 2 0.00179712 0.0031 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 . 0.0028525 T . . . B T . . . Name\x3d99.637626 0.5 +10 121432040 BAG3 C T 1 0.000199681 . 2.527 MedGen:CN169374 not_specified Likely_benign . . . 1.846e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . B T . . . Name\x3d99.688381 6.5 +10 121435955 BAG3 A C 164 0.635184 0.7204 . MedGen:CN169374 not_specified Benign . . . 0.7296 . intronic . 0.666641 . . . . . . . . 0.7245 Name\x3d99.108166 1 +10 121436068 BAG3 T G 23 0.155751 0.0951 . 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 . . . 0.0835 synonymous_SNV exonic . 0.110755 . . . . . . . . 0.0881 Name\x3d99.818653 -3 +10 121436100 BAG3 A T 1 0.000199681 . 5.722 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . D D . . . Name\x3d99.835314 8 +10 121436286 BAG3 C T 23 0.155551 0.0953 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 . . . 0.0833 nonsynonymous_SNV exonic . 0.112547 T . . . B D . . 0.0877 Name\x3d99.687790 -3 +10 121436362 BAG3 A G 176 0.70647 0.7807 . 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 . . Name\x3dMIMAT0003888|hsa-miR-766-3p|Experimental 0.7811 synonymous_SNV exonic . 0.740042 . . . . . . . . 0.7792 Name\x3d99.820161 -2 +11 533415 HRAS G A 1 0.000399361 0.0009 . . . . . . . 0.0004 . intronic . 0.0002652 . . Name\x3dOREG1841910|N/A|RB1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR . . . . . 0.0007 Name\x3d99.732043 2 +11 533546 HRAS G A 2 0.000798722 0.0015 . MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Costello_syndrome|Rasopathy|not_specified Benign . . . 0.0014 nonsynonymous_SNV exonic . 0.000925 . . Name\x3dOREG1852450|N/A|RB1|PAZAR,OREG1841910|N/A|RB1|PAZAR,OREG1848100|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR . . . . . 0.0012 Name\x3d99.838963 3.5 +11 533664 HRAS T A 2 0.000399361 0.0001 . . . . . . . 1.841e-05 . intronic . 5.82e-05 . . Name\x3dOREG1511148|N/A|EGR1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1841910|N/A|RB1|PAZAR . . . . . . Name\x3d99.071362 4 +11 533821 HRAS G C 1 0.000199681 . 2.510 . . . Name\x3dENSR00000035647|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1841910|N/A|RB1|PAZAR,OREG1852450|N/A|RB1|PAZAR,OREG1848101|N/A|RB1|PAZAR,OREG1511148|N/A|EGR1|PAZAR . P T . . . Name\x3d99.776664 6.5 +11 534197 HRAS C T 14 0.0766773 0.0469 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000035647|Promoter . . 0.0396 . intronic . 0.0639125 . . Name\x3dOREG1848102|N/A|RB1|PAZAR,OREG1852451|N/A|RB1|PAZAR,OREG1841911|N/A|RB1|PAZAR . . . . . 0.0431 Name\x3d98.639245 1 +11 534242 HRAS A G 69 0.297125 0.3524 . MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Costello_syndrome|Rasopathy|not_specified|not_provided Benign Name\x3dENSR00000035647|Promoter . . 0.3275 synonymous_SNV exonic . 0.313334 . . Name\x3dOREG1848102|N/A|RB1|PAZAR,OREG1852451|N/A|RB1|PAZAR,OREG1841911|N/A|RB1|PAZAR . . . . . 0.3441 Name\x3d99.816824 3 +11 534332 HRAS G A 7 0.0357428 0.0435 . MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN169374|MedGen:CN517202 Costello_syndrome|not_specified|not_provided Benign Name\x3dENSR00000035647|Promoter . . 0.0578 . UTR5 . 0.0432983 . . Name\x3dOREG1848102|N/A|RB1|PAZAR,OREG1852451|N/A|RB1|PAZAR,OREG1841911|N/A|RB1|PAZAR . . . . . 0.0462 Name\x3d98.963820 1 +11 2466274 KCNQ1 G C 1 0.000199681 . . . . . Name\x3dENSR00000035945|Promoter . . . . UTR5 . 3.84e-05 . . Name\x3dOREG1500675|N/A|EGR1|PAZAR . . . . . . Name\x3d99.294939 7 +11 2466501 KCNQ1 C T 1 0.000199681 . 3.646 . . . Name\x3dENSR00000035945|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1500675|N/A|EGR1|PAZAR . P D . . . Name\x3d99.919332 10 +11 2549229 KCNQ1 C T 1 0.000399361 6.486e-05 3.595 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic rs143709408|Chronic-kidney-disease||2E-16|PMID:29124443 0.0001811 D . . . B T . . 0.0005 Name\x3d99.933882 3 +11 2549230 KCNQ1 G A 1 0.000399361 0.0018 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0015 synonymous_SNV exonic . 0.001216 . . . . . . . . 0.0027 Name\x3d99.933882 1 +11 2549257 KCNQ1 C T 1 0.0171725 0.0004 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.0004 . intronic . 0.0060543 . . . . . . . . 0.0003 Name\x3d99.111971 -1 +11 2549329 KCNQ1 TGG T 118 0.593251 0.6613 . . . . . . . . . intronic . 0.0002305 . . . . . . . . . Name\x3d98.602069,95.635312 1 +11 2591802 KCNQ1 T G 1 0.00419329 0.0003 . . . . . . . . . intronic . 0.0016136 . . . . . . . . . Name\x3d97.064096 3 +11 2591893 KCNQ1 C T 1 0.000199681 0.0014 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0011 synonymous_SNV exonic . 0.0009056 . . . . . . . . 0.0016 Name\x3d99.921392 1 +11 2592033 KCNQ1 G A 1 0.000599042 0.0019 . . . . . . . 0.0018 . intronic . 0.0013777 . . . . . . . . 0.0037 Name\x3d97.707256 3 +11 2593185 KCNQ1 C T 1 0.00658946 0.0282 . . . . . . . . . intronic . 0.0140234 . . . . . . . . . Name\x3d95.914149 1 +11 2593416 KCNQ1 A G 58 0.328874 0.2313 . . . . . . . . . intronic . 0.290303 . . . . . . . . . Name\x3d95.111065 1 +11 2594037 KCNQ1 C T 1 0.000399361 . . . . . . . . 7.526e-05 . intronic . 5.82e-05 . . . . . . . . 0.0001 Name\x3d96.009946 5 +11 2594106 KCNQ1 C T 1 0.000399361 0.0003 . 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 . 0.0004981 . . . . . . . . 0.0002 Name\x3d99.920096 1 +11 2594268 KCNQ1 T G 3 0.00279553 0.0052 . . . . . . . 0.0062 . intronic . 0.0042108 . . . . . . . . 0.0039 . 6 +11 2606519 KCNQ1 G A 1 0.000199681 6.48e-05 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.0001 synonymous_SNV exonic . 0.0002975 . . . . . . . . 0.0003 Name\x3d99.942483 3 +11 2606621 KCNQ1 C T 8 0.00678914 0.0116 . . . . . . . . . intronic . 0.001837 . . . . . . . . . Name\x3d96.963998 1 +11 2609919 KCNQ1 A G 1 0.000199681 . . . . . . . . 1.857e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.532182 5 +11 2683152 KCNQ1OT1 T G 38 0.305112 0.0956 . . . . . . . 0.0938 . ncRNA_exonic . 0.119449 . . . . . . . . 0.0923 Name\x3d97.193237 -1 +11 2683177 KCNQ1OT1 C T 4 0.0129792 0.0136 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.0105 . ncRNA_exonic . 0.0113259 . . . . . . . . 0.0138 Name\x3d98.940676 -3 +11 2683329 KCNQ1OT1 C T 2 0.0191693 6.483e-05 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign . . . 0.0006 . ncRNA_exonic . 0.008952 . . . . . . . . 0.0002 Name\x3d99.228112 -5 +11 2683357 KCNQ1OT1 A G 88 0.519768 0.4665 . . . . . . . 0.4504 . ncRNA_exonic . 0.441094 . . . . . . . . 0.4637 . -2 +11 2683361 KCNQ1OT1 C G 1 0.00139776 0.0014 . . . . . . . 0.0017 . ncRNA_exonic . 0.0013195 . . . . . . . . 0.0034 . 0 +11 2790019 KCNQ1 G A 8 0.0908546 0.0256 . . . . . . . . . intronic . 0.0080788 . . . . . . . . 0.0305 . 0 +11 2790163 KCNQ1 T C 41 0.0461262 0.1083 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Cardiac_arrhythmia|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.1177 . intronic . 0.0867712 . . . . . . . . 0.1172 . -4 +11 2797197 KCNQ1 G A 1 0.000199681 . 5.912 MedGen:CN517202 not_provided Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 2.59e-05 D . Name\x3dOREG1500684|N/A|EGR1|PAZAR . P D . . . Name\x3d99.937482 9 +11 2797237 KCNQ1 G A 35 0.180911 0.2038 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.3016 synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1500684|N/A|EGR1|PAZAR . . . . . 0.1932 Name\x3d99.936874 -2 +11 2797320 KCNQ1 A G 149 0.668331 0.6854 . . . . . . . 0.6895 . intronic . 0.428591 . . Name\x3dOREG1500684|N/A|EGR1|PAZAR . . . . . 0.6891 Name\x3d96.805043 2 +11 2798305 KCNQ1 T C 54 0.223842 0.2473 . . . . Name\x3dENSR00000952519|Promoter . . 0.2408 . intronic . 0.221019 . . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . . . . . 0.2302 . 2 +11 2798341 KCNQ1 C T 1 0.000199681 . . . . . Name\x3dENSR00000952519|Promoter . . . . intronic . 3.84e-05 . . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . . . . . . . 6 +11 2799211 KCNQ1 A G 1 0.000199681 . 0.782 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . B T . . . Name\x3d99.902951 6 +11 2799299 KCNQ1 G T 9 0.0133786 0.0613 . . . . . . . 0.0475 . intronic . 0.0346373 . . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . . . . . 0.0511 Name\x3d97.401843 2 +11 2799369 KCNQ1 C G 7 0.0155751 0.0285 . . . . . . . . . intronic . 0.0214 . . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.643325 2 +11 2799380 KCNQ1 G A 2 0.000399361 0.0015 . . . . . . . . . intronic . 0.0003074 . . Name\x3dOREG1261171|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.577914 4 +11 2869002 KCNQ1 G A 1 0.000599042 0.0004 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0007 synonymous_SNV exonic . 0.0002587 . . Name\x3dOREG1493654|N/A|EGR1|PAZAR . . . . . 0.0009 Name\x3d99.887308 2 +11 2869188 KCNQ1 C T 45 0.0832668 0.2683 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.3820 synonymous_SNV exonic . 0.142611 . . Name\x3dOREG1493654|N/A|EGR1|PAZAR . . . . . 0.2328 Name\x3d99.891667 -2 +11 6625566 ILK A G 1 0.000399361 0.0011 2.601 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374 Primary_familial_hypertrophic_cardiomyopathy|not_specified Likely_benign Name\x3dENSR00000036315|Promoter . . 0.0035 nonsynonymous_SNV exonic . 0.0013842 T . Name\x3dOREG1247960|N/A|SMARCA4|PAZAR . P T . . 0.0007 Name\x3d98.674504 4.5 +11 6629332 ILK T C 1 0.000199681 . 3.622 MedGen:CN169374 not_specified Uncertain_significance . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P D . . . Name\x3d96.343153 5 +11 6629665 ILK C T 58 0.314696 0.2617 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2626 synonymous_SNV exonic . 0.265527 . . . . . . . . 0.25 . -4 +11 6630028 ILK TC T 214 1 1 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign . . . 1 . intronic . 0.0293981 . . . . . . . . . . -4 +11 6630043 ILK C T 1 0.000199681 . -0.079 . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +11 6630410 ILK T C 51 0.120807 0.2600 . . . . . . . 0.2550 . intronic . 0.205761 . . . . . . . . 0.2548 . 0 +11 6630524 ILK C T 1 0.000399361 0.0004 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Benign . . . 0.0008 . intronic . 0.000705 . . . . . . 0.0003 0.014 0.0010 . -2 +11 6630833 ILK G A 59 0.347444 0.2621 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2634 synonymous_SNV exonic . 0.275398 . . . . . . . . 0.2514 . -4 +11 6630962 ILK C T 1 0.000199681 0.0002 . MedGen:CN169374 not_specified Benign . . Name\x3dMIMAT0000419|hsa-miR-27b-3p|Experimental 0.0003 synonymous_SNV exonic . 0.000194 . . . . . . . . 0.0002 . 5 +11 6631016 ILK C T 51 0.160144 0.2683 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2599 synonymous_SNV exonic . 0.226996 . . . . . . . . 0.2647 . -3 +11 6631300 ILK G A 8 0.00579073 0.0128 . . . . . . . 0.0173 . intronic . 0.0113647 . . . . . . . . 0.0177 . 0 +11 6631561 ILK A C 1 0.00279553 0.0021 . . . . . . . 0.0021 . intronic . 0.002031 . . Name\x3dOREG1258265|N/A|SMARCA4|PAZAR . . . . . 0.0015 . 3 +11 19204403 CSRP3 A G 43 0.155152 0.1940 . . . . . . . . . intronic . 0.034204 . . . . . . . . . . 0 +11 19206426 CSRP3 A T 57 0.300919 0.2414 . . . . . . . . . intronic . 0.0516423 . . . . . . . . . Name\x3d96.688190 1 +11 19207841 CSRP3 C T 28 0.0427316 0.0982 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN235865|MedGen:CN239310 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . Name\x3dMIMAT0000070|hsa-miR-17-5p|Experimental 0.1143 synonymous_SNV exonic . 0.0830002 . . . . . . . . 0.1073 Name\x3d99.546454 6 +11 19209640 CSRP3 T C 1 0.00139776 0.0017 . . . . Name\x3dENSR00000954250|Enhancer . . 0.0033 . intronic . 0.0025032 . . . . . . . . 0.0024 Name\x3d99.613307 4 +11 19209912 CSRP3 T A 2 0.00239617 0.0069 . . . . Name\x3dENSR00000954250|Enhancer . . . . intronic . 0.0010155 . . . . . . . . . . 3 +11 19213986 CSRP3 A G 4 0.00179712 0.0047 5.529 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1843808,OMIM:607482|MedGen:C2677491,OMIM:612124|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1M|Familial_hypertrophic_cardiomyopathy_12|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0036 nonsynonymous_SNV exonic . 0.0027684 T . . . P D . . 0.0054 Name\x3d99.685021 18 +11 47353498 MYBPC3 G A 24 0.356629 0.1750 . . . . . . . . . intronic . 0.0454199 . . Name\x3dOREG1504537|N/A|EGR1|PAZAR,OREG1183181|N/A|TFAP2C|PAZAR . . . . . 0.1747 Name\x3d98.840870 4 +11 47354068 MYBPC3 G A 24 0.341454 0.1753 . MedGen:CN169374 not_specified Benign . . . 0.1609 . intronic . 0.240197 . . . . . . . . 0.1646 Name\x3d98.452619 3 +11 47354787 MYBPC3 C T 49 0.476238 0.3168 . 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|MedGen:CN517202 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.3972 synonymous_SNV exonic . 0.353605 . . Name\x3dOREG1504538|N/A|EGR1|PAZAR . . . . . 0.3039 Name\x3d99.864445 0 +11 47354851 MYBPC3 G C 1 0.000199681 . 1.231 MedGen:CN169374 not_specified Uncertain_significance . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1504538|N/A|EGR1|PAZAR . B T . . . Name\x3d99.873147 7.5 +11 47354905 MYBPC3 T C 24 0.0329473 0.1183 . MedGen:CN169374 not_specified Benign . . . 0.1594 . intronic . 0.0585245 . . Name\x3dOREG1504538|N/A|EGR1|PAZAR . . . . . 0.1060 Name\x3d96.947408 2 +11 47355233 MYBPC3 C G 1 0.000199681 . 7.255 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified Conflicting_interpretations_of_pathogenicity . . . 3.719e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . D D . . . Name\x3d99.863446 19 +11 47356644 MYBPC3 G C 7 0.0239617 . -2.099 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . . nonsynonymous_SNV exonic . 0.0007762 T . . . B T . . . Name\x3d99.774432 0.5 +11 47357416 MYBPC3 G A 4 0.0547125 0.0284 . 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 . . . 0.0619 . intronic . 0.0271342 . . . . . . . . 0.0257 Name\x3d98.758324 -3 +11 47357437 MYBPC3 G T 1 0.000199681 0.0004 0.220 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype Uncertain_significance . . . 0.0005 nonsynonymous_SNV exonic . 0.000207 T . . . B T . . . Name\x3d99.868602 4.5 +11 47358997 MYBPC3 G A 4 0.048123 0.0413 . 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 Name\x3dENSR00000430073|TF_binding_site . . 0.0378 synonymous_SNV exonic . 0.0437252 . . . . . . . . 0.0351 Name\x3d99.915080 -2 +11 47360053 MYBPC3 G C 4 0.0694888 0.0424 . MedGen:C1861862,OMIM:115197|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_4|not_specified Benign . . . 0.0386 . intronic . 0.0497212 . . . . . . . . 0.0363 Name\x3d99.461397 -3 +11 47361011 MYBPC3 C T 1 0.000798722 0.0039 . . . . . . . . . intronic . 0.0005175 . . . . . . . . 0.0038 Name\x3d98.908623 3 +11 47361164 MYBPC3 T A 1 0.000798722 0.0095 . . . . . . . 0.0077 . intronic . 0.0029172 . . . . . . . . 0.0034 Name\x3d97.785442 3 +11 47362465 MYBPC3 G C 25 0.340056 0.1882 . . . . . . . . . intronic rs10769254|Cardiovascular-disease||1E-15|PMID:30595370 0.246158 . . . . . . . . . Name\x3d96.364232 4 +11 47362642 MYBPC3 C T 6 0.00898562 0.0229 . . . . . . . 0.0288 . intronic . 0.0122508 . . . . . . . . 0.0192 Name\x3d97.026346 1 +11 47364187 MYBPC3 C T 1 0.000199681 0.0003 . 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 . . . 0.0004 synonymous_SNV exonic . 0.000207 . . . . . . . . 0.0001 Name\x3d99.750641 13 +11 47364762 MYBPC3 A G 214 0.964058 0.9992 . . . . . . . 0.9989 . intronic . 0.941696 . . . . . . . . 0.9982 Name\x3d96.831149 1 +11 47365014 MYBPC3 C T 27 0.0782748 0.1177 . MedGen:CN169374 not_specified Benign . . . 0.1836 . intronic . 0.0767972 . . . . . . . . 0.1174 Name\x3d96.066008 1 +11 47365199 MYBPC3 G A 68 0.249601 0.2912 . MedGen:CN169374 not_specified Benign . . . 0.3315 . intronic . 0.261911 . . . . . . . . 0.3084 Name\x3d99.405246 3 +11 47365214 MYBPC3 G A 14 0.0147764 0.0434 . . . . . . . 0.0419 . intronic . 0.0221019 . . . . . . . . 0.0368 Name\x3d96.053271 1 +11 47367738 MYBPC3 C A 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d97.810661 5 +11 47367848 MYBPC3 C T 1 0.000998403 . 4.875 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 2.066e-05 nonsynonymous_SNV exonic . 0.0002911 T . . . P D . . . Name\x3d99.932637 7 +11 47367871 MYBPC3 C T 1 0.000798722 0.0095 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 . . . 0.0073 nonsynonymous_SNV exonic . 0.0039068 T . . . B D . . 0.0038 Name\x3d99.905358 -1 +11 47368153 MYBPC3 G T 2 0.00838658 0.0247 . . . . . . . 0.0260 . intronic . 0.0174771 . . . . . . . . 0.0242 Name\x3d99.235897 1 +11 47368860 MYBPC3 AAACC A 1 0.00139776 0.0018 . . . . . . . . . intronic . 0.000461 . . . . . . . . . Name\x3d96.366485 3 +11 47369443 MYBPC3 G A 26 0.0611022 0.1180 . 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 . . . 0.2346 synonymous_SNV exonic . 0.0725993 . . . . . . . . 0.1184 Name\x3d99.777187 -3 +11 47369453 MYBPC3 G A 1 0.000199681 . 1.955 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . Name\x3d99.854016 6.5 +11 47370041 MYBPC3 T C 27 0.0670927 0.1217 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|MedGen:CN517202 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.1411 nonsynonymous_SNV exonic . 0.100898 T . . . B T . . 0.1263 Name\x3d99.574377 -0.5 +11 47370107 MYBPC3 G A 1 0.000199681 . . MedGen:CN169374 not_specified Likely_benign . . . 5.354e-05 . intronic . 1.94e-05 . . . . . . . . . Name\x3d96.555180 5 +11 47370150 MYBPC3 C T 1 0.000399361 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d97.349997 5 +11 47371261 MYBPC3 C T 1 0.00239617 0.0026 . . . . . . . . . intronic . 0.0019594 . . . . . . . . . Name\x3d97.566781 3 +11 47371330 MYBPC3 T C 1 0.00179712 0.0008 1.738 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0010 nonsynonymous_SNV exonic . 0.0017852 T . . . P D . . 0.0012 Name\x3d99.807663 1 +11 47371414 MYBPC3 C T 1 0.00199681 0.0025 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 Benign/Likely_benign . . . 0.0033 nonsynonymous_SNV exonic . 0.0024191 T . . . B T . . 0.0034 Name\x3d99.756327 0.5 +11 47371442 MYBPC3 G A 7 0.0249601 0.0466 . 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 . . . 0.0495 synonymous_SNV exonic . 0.0392039 . . . . . . . . 0.0463 Name\x3d99.788302 -3 +11 47371484 MYBPC3 AG A 164 0.610823 0.7227 . 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 . . . 0.7338 . intronic . 0.0186738 . . . . . . . . 0.7248 Name\x3d96.588193 -3 +11 47371578 MYBPC3 G A 3 0.00838658 0.0301 . 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 . . . 0.0539 synonymous_SNV exonic . 0.015168 . . . . . . . . 0.0307 Name\x3d99.855628 -3 +11 47371598 MYBPC3 C T 21 0.0329473 0.1015 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 . . . 0.1541 nonsynonymous_SNV exonic . 0.0469787 T . . . P D . . 0.0864 Name\x3d99.787283 -3 +11 47371664 MYBPC3 C T 1 0.000199681 . 3.139 . . . . . . 0.0002 . splicing . 1.29e-05 . . . . . . 1.0000 0.948 . Name\x3d99.189846 14 +11 47372741 MYBPC3 C A 2 0.000798722 0.0012 . . . . . . . 0.0030 . intronic . 0.0005304 . . . . . . . . 0.0018 Name\x3d99.313923 3 +11 47372749 MYBPC3 C G 1 0.0607029 0.0261 . . . . . . . 0.0365 . intronic . 0.0236025 . . . . . . . . 0.0217 Name\x3d99.313923 1 +11 74168330 KCNE3 A G 1 0.000199681 . . . . . . . . 5.598e-05 synonymous_SNV exonic . 4.53e-05 . . . . . . . . . Name\x3d98.824776 3 +11 74168361 KCNE3 C T 1 0.000998403 0.0050 2.265 EFO:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,MedGen:C0042510,SNOMED_CT:71908006|Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|Human_Phenotype_Ontology:HP:0003768,MedGen:C1279412|MedGen:C2751089,OMIM:613119|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Ventricular_fibrillation|Syncope|Periodic_paralysis|Brugada_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0042 nonsynonymous_SNV exonic . 0.0030595 D . . . B D . . 0.0068 Name\x3d98.553020 12 +11 74168411 KCNE3 A G 25 0.141174 0.1309 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.1168 synonymous_SNV exonic rs2270676|Corneal-astigmatism|1.29|5E-6|PMID:22144915 0.128297 . . . . . . . . 0.1084 Name\x3d99.003009 -3 +11 111781003 CRYAB A T 1 0.000199681 . . . . . Name\x3dENSR00000044928|Promoter . . 1.86e-05 . intronic . 1.29e-05 . . Name\x3dOREG1496730|N/A|EGR1|PAZAR . . . . . . Name\x3d99.450023 7 +11 111781047 CRYAB A C 75 0.239816 0.2796 -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 Name\x3dENSR00000044928|Promoter . . 0.2925 . intronic . 0.26968 T . Name\x3dOREG1496730|N/A|EGR1|PAZAR . B T . . 0.3000 Name\x3d99.411629 1 +11 111782284 CRYAB C T 4 0.0091853 0.0212 . 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 Name\x3dENSR00000044928|Promoter . . 0.0238 synonymous_SNV exonic . 0.0158148 . . . . . . . . 0.0226 Name\x3d99.834016 -6 +11 118011860 SCN4B G A 43 0.141973 0.1833 . . . . . . . . . intronic . 0.0361121 . . Name\x3dOREG1485369|N/A|EGR1|PAZAR . . . . . . . -1 +11 118015832 SCN4B G A 8 0.0349441 0.0373 . 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 . . . 0.0400 synonymous_SNV exonic . 0.0353876 . . Name\x3dOREG1485365|N/A|EGR1|PAZAR . . . . . 0.0374 Name\x3d99.865055 -2 +11 118015959 SCN4B C G 2 0.000399361 . . . . . Name\x3dENSR00000045588|Promoter . . 9.28e-05 . UTR5 . 4.53e-05 . . Name\x3dOREG1485365|N/A|EGR1|PAZAR . . . . . . Name\x3d99.139305 5 +11 118023424 SCN4B G C 1 0.000199681 0.0001 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000443850|Promoter . . 4.876e-05 . UTR5 . 3.88e-05 . . Name\x3dOREG1943539|N/A|ZNF263|PAZAR . . . . . . Name\x3d99.629526 5 +11 118037564 SCN2B G A 23 0.0780751 0.1038 . . . . . . . 0.1062 . UTR3 . 0.0890674 . . Name\x3dOREG1502562|N/A|EGR1|PAZAR . . . . . 0.0928 Name\x3d98.015659 0 +11 118037569 SCN2B C T 1 0.000399361 . . . . . . . . 3.683e-05 . UTR3 . 4.53e-05 . . Name\x3dOREG1502562|N/A|EGR1|PAZAR . . . . . . Name\x3d98.015659 4 +11 118037813 SCN2B G T 110 0.514377 0.4682 . MedGen:CN169374 not_specified Benign . . . 0.4746 . intronic . 0.489121 . . Name\x3dOREG1502562|N/A|EGR1|PAZAR . . . 0.0003 0.034 0.4707 . 0 +11 118038741 SCN2B C T 3 0.251797 0.0211 . . . . . . . . . intronic . 0.0152521 . . . . . . . . . . -2 +11 118039016 SCN2B G A 1 0.000199681 . . MedGen:C3809312,OMIM:615378 Atrial_fibrillation,_familial,_14 Likely_benign . . . . . intronic . 6.5e-06 . . . . . . 0.0001 0.01 . Name\x3d99.133619 1 +11 118039273 SCN2B T C 8 0.249601 0.0106 . . . . . . . 0.0152 . intronic . 0.0828903 . . . . . . . . 0.0163 . -2 +11 123504959 SCN3B C G 126 0.750599 0.5417 . . . . . . . 0.5547 . intronic . 0.605458 . . . . . . . . 0.5523 . -2 +11 123508842 SCN3B A G 3 0.0958466 0.0143 . . . . . . . . . intronic . 0.0072832 . . . . . . . . 0.0113 . -2 +11 123513161 SCN3B G A 25 0.0820687 0.0878 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0911 synonymous_SNV exonic . 0.0865254 . . . . . . . . 0.0896 Name\x3d99.804817 -3 +11 123513341 SCN3B G A 1 0.000199681 0.0001 . . . . . . . 7.425e-05 synonymous_SNV exonic . 6.5e-06 . . . . . . . . 0.0002 Name\x3d99.869310 3 +11 123524389 SCN3B A G 1 0.0443291 0.0022 . . . . Name\x3dENSR00000445310|Promoter . . . . intronic . 0.0043596 . . Name\x3dOREG1510012|N/A|EGR1|PAZAR . . . . . 0.0022 Name\x3d98.903517 1 +11 123524411 SCN3B G A 32 0.142173 0.1371 . . . . Name\x3dENSR00000445310|Promoter . . 0.1413 . intronic . 0.143814 . . Name\x3dOREG1510012|N/A|EGR1|PAZAR . . . . . 0.1395 Name\x3d98.921114 1 +11 128781287 KCNJ5 C T 1 0.000599042 . 5.122 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 5.17e-05 D . . . D D . . . Name\x3d99.920523 7 +11 128781339 KCNJ5 T C 188 0.869808 0.8248 . MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.8289 synonymous_SNV exonic . 0.833178 . . . . . . . . 0.8250 Name\x3d99.914987 -5 +11 128781441 KCNJ5 C T 1 0.000199681 0.0004 . MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified Benign/Likely_benign . . . 0.0002 synonymous_SNV exonic . 0.0002587 . . . . . . . . 0.0009 Name\x3d99.911585 1 +11 128781606 KCNJ5 C T 1 0.000399361 . . . . . . . . . synonymous_SNV exonic . 4.53e-05 . . . . . . . . . Name\x3d99.889317 3 +11 128781978 KCNJ5 T G 188 0.866214 0.8211 . MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.8270 synonymous_SNV exonic . 0.829368 . . . . . . . . 0.8216 Name\x3d99.918617 -4 +11 128782002 KCNJ5 T C 188 0.867013 0.8210 . MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.8269 synonymous_SNV exonic . 0.822868 . . . . . . . . 0.8216 Name\x3d99.923949 -4 +11 128782012 KCNJ5 C G 213 0.995008 0.9777 0.157 MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.9786 nonsynonymous_SNV exonic . 0.967031 T . . . B T . . 0.9820 Name\x3d99.837086 -3.5 +11 128782112 KCNJ5 C T 3 0.076278 0.0079 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified Benign Name\x3dENSR00000963232|Enhancer . . 0.0109 . intronic . 0.0296827 . . . . . . 0.0001 . 0.0083 Name\x3d96.830285 0 +11 128786294 KCNJ5 G A 179 0.735823 0.7279 . MedGen:C3713420,Orphanet:ORPHA235936|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Familial_hyperaldosteronism|Romano-Ward_syndrome|not_specified Benign . . . 0.7328 . intronic . 0.724635 . . . . . . . 0.002 0.7279 . -2 +12 2224511 CACNA1C C T 5 0.0117812 0.0219 . 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:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0380 synonymous_SNV exonic . 0.0177165 . . . . . . . . 0.0235 Name\x3d99.624601 -3 +12 2224553 CACNA1C G A 1 0.013778 0.0001 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0007 synonymous_SNV exonic . 0.0038809 . . . . . . . . 0.0005 Name\x3d99.337287 -1 +12 2229476 CACNA1C G A 6 0.0253594 0.0220 . 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 . 0.0250061 . . . . . . . . 0.0265 Name\x3d99.279141 -3 +12 2558186 CACNA1C G A 54 0.120407 0.2137 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign . . . 0.2520 synonymous_SNV exonic . 0.171744 . . . . . . . . 0.2146 Name\x3d99.668478 -3 +12 2558292 CACNA1C C T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d95.895333 5 +12 2558298 CACNA1C G A 63 0.260184 0.2575 . MedGen:CN169374 not_specified Benign . . . 0.2776 . intronic . 0.139623 . . . . . . . . 0.2386 Name\x3d95.895333 1 +12 2558300 CACNA1C T C 63 0.26258 0.2574 . MedGen:CN169374 not_specified Benign . . . 0.2776 . intronic . 0.140063 . . . . . . . . 0.2332 Name\x3d95.895333 1 +12 2602288 CACNA1C C T 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d98.583121 5 +12 2602307 CACNA1C C G 11 0.0876597 0.0489 . . . . . . . 0.0526 . intronic . 0.052412 . . . . . . . . 0.0491 Name\x3d95.577165 1 +12 2613521 CACNA1C A G 96 0.546326 0.3714 . . . . . . . . . intronic . 0.0817842 . . Name\x3dOREG1231293|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.410224 2 +12 2613716 CACNA1C C T 26 0.0782748 0.0718 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0806 . intronic . 0.0752836 . . . . . . . . 0.0868 Name\x3d99.228769 1 +12 2614070 CACNA1C G T 1 0.000399361 0.0031 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0035 synonymous_SNV exonic . 0.0021927 . . . . . . . . 0.0034 Name\x3d99.805318 1 +12 2621912 CACNA1C G A 20 0.0597045 0.0448 . . . . . . . . . intronic . 0.0089456 . . . . . . . . . . 0 +12 2622016 CACNA1C G C 1 0.000199681 . 5.692 . . . . . . 1.952e-05 nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.619773 11 +12 2659082 CACNA1C G T 59 0.294928 0.2291 . . . . . . . 0.3213 . intronic . 0.208788 . . . . . . . . 0.2256 Name\x3d98.769595 1 +12 2666051 CACNA1C T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +12 2675802 CACNA1C G A 5 0.0561102 0.0117 . . . . . . . . . intronic . 0.0345781 . . Name\x3dOREG1501388|N/A|EGR1|PAZAR . . . . . . Name\x3d95.105736 2 +12 2676683 CACNA1C C T 166 0.86222 0.8408 . . . . . . . . . intronic . 0.170593 . . Name\x3dOREG1501388|N/A|EGR1|PAZAR . . . . . . Name\x3d98.331030 2 +12 2690702 CACNA1C G A 127 0.586661 0.7184 . . . . . . . . . intronic . 0.118343 . . . . . . . . . . 0 +12 2692186 CACNA1C T G 153 0.632588 0.7738 . . . . Name\x3dENSR00000448446|Promoter . . . . intronic . 0.0001153 . . Name\x3dOREG1180333|N/A|TFAP2C|PAZAR,OREG1837260|N/A|PRDM14|PAZAR,OREG1231295|N/A|SMARCA4|PAZAR . . . . . . Name\x3d98.994648 3 +12 2693848 CACNA1C G A 1 0.00339457 0.0003 . . . . . . . . . intronic . 0.0010373 . . . . . . . . . Name\x3d96.799344 3 +12 2694470 CACNA1C G A 1 0.0415335 0.0006 . . . . . . . . . intronic . 0.0122176 . . . . . . . . . Name\x3d96.765479 1 +12 2694638 CACNA1C C T 25 0.145567 0.0772 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign . . . 0.1356 synonymous_SNV exonic . 0.0873727 . . . . . . . . 0.0786 Name\x3d99.726858 -3 +12 2694651 CACNA1C C T 2 0.00159744 0.0054 4.997 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0074 nonsynonymous_SNV exonic . 0.0021927 D . . . D T . . 0.0047 Name\x3d99.801019 4 +12 2695136 CACNA1C C T 2 0.00638978 0.0206 . . . . . . . . . intronic . 0.0027167 . . . . . . . . 0.0189 Name\x3d95.798291 1 +12 2706720 CACNA1C G C 204 0.951278 0.9756 . . . . . . . . . intronic . 0.186485 . . . . . . . . 0.9739 Name\x3d97.694135 1 +12 2706781 CACNA1C G A 1 0.000599042 0.0001 . . . . . . . . . intronic . 0.0002305 . . . . . . . . . Name\x3d97.842218 3 +12 2714835 CACNA1C C T 1 0.00119808 0.0006 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0015 . intronic . 0.0010543 . . Name\x3dOREG1501389|N/A|EGR1|PAZAR . . . . . 0.0012 Name\x3d98.993995 8 +12 2715687 CACNA1C A G 33 0.0535144 0.1081 . . . . . . . . . intronic . 0.0135703 . . . . . . . . . Name\x3d95.250824 1 +12 2715941 CACNA1C G A 2 0.00678914 0.0002 . . . . . . . . . intronic . 0.0020363 . . . . . . . . . Name\x3d97.069674 3 +12 2717661 CACNA1C C A 1 0.000199681 6.482e-05 . . . . . . . 9.811e-05 . intronic . 5.82e-05 . . . . . . . . . Name\x3d99.787542 5 +12 2719934 CACNA1C C T 33 0.052516 0.1079 . . . . . . . . . intronic . 0.0157242 . . . . . . . . . . 0 +12 2720988 CACNA1C T C 60 0.261781 0.1898 . . . . . . . . . intronic . 0.0394756 . . . . . . . . . . 0 +12 2721137 CACNA1C C T 60 0.259185 0.1903 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign . . . 0.1837 synonymous_SNV exonic . 0.205521 . . . . . . . . . Name\x3d99.826561 -3 +12 2743567 CACNA1C C T 1 0.000199681 0.0001 . . . . . . . 0.0003 . intronic . 0.0001164 . . . . . . . . 0.0001 Name\x3d99.663284 5 +12 2743650 CACNA1C A AT 48 0.204273 0.2752 . . . . . . . . . intronic . 0.0026126 . . . . . . . . . Name\x3d97.825804 1 +12 2757756 CACNA1C T C 153 0.666933 0.8153 . . . . . . . . . intronic . 0.659136 . . . . . . . . . Name\x3d97.554267 1 +12 2757769 CACNA1C T C 154 0.666534 0.8153 . . . . . . . . . intronic . 0.124015 . . . . . . . . . Name\x3d98.534468 1 +12 2757782 CACNA1C C T 152 0.652955 0.8011 . . . . . . . . . intronic . 0.141686 . . . . . . . . . Name\x3d99.318145 1 +12 2760708 CACNA1C G A 148 0.670727 0.7791 . . . . . . . 0.7638 . intronic . 0.731414 . . . . . . . . 0.7671 Name\x3d98.468885 1 +12 2760898 CACNA1C C T 13 0.023762 0.0682 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0688 synonymous_SNV exonic . 0.0483758 . . . . . . . . 0.0673 Name\x3d99.830000 -1 +12 2760965 CACNA1C GA G 79 0.382987 0.2604 . . . . . . . 0.2907 . intronic . 0.0092431 . . . . . . . . 0.2809 . 0 +12 2760970 CACNA1C G A 132 0.553914 0.7353 . . . . . . . 0.7238 . intronic . 0.652786 . . . . . . . . 0.7204 . 0 +12 2763143 CACNA1C G T 3 0.0119808 0.0022 . . . . . . . . . intronic . 0.0009185 . . . . . . . . . Name\x3d96.979367 1 +12 2774833 CACNA1C T C 3 0.0385383 0.0030 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign . . . 0.0031 synonymous_SNV exonic . 0.0139067 . . . . . . . . 0.0035 Name\x3d99.828309 -3 +12 2778044 na G A 1 0.000199681 0.0003 . . . . . . . . . ncRNA_exonic . 2.59e-05 . . . . . . . . . . 2 +12 2778061 na C G 1 0.0738818 0.0008 . . . . . . . 0.0007 . ncRNA_exonic . 0.0217591 . . . . . . . . 0.0009 . -2 +12 2778272 na G GC 11 0.104633 0.0394 . . . . . . . . . ncRNA_intronic . 0.0134855 . . . . . . . . . . -2 +12 2786193 na A G 1 0.000199681 6.495e-05 . . . . . . . . . ncRNA_exonic . 7.68e-05 . . . . . . . . . . 2 +12 2787058 na C T 9 0.0802716 0.0356 . . . . . . . 0.0345 . ncRNA_exonic . 0.0538738 . . . . . . . . 0.0346 . -2 +12 2788615 CACNA1C C T 3 0.00299521 0.0135 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0297 synonymous_SNV exonic . 0.0056403 . . . . . . . . 0.0072 Name\x3d99.792239 -1 +12 2788637 CACNA1C G A 1 0.000199681 0.0003 4.307 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0002652 D . . . P T . . 0.0001 Name\x3d99.762694 7 +12 2788732 CACNA1C C A 2 0.000998403 0.0016 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0024 synonymous_SNV exonic . 0.0012548 . . . . . . . . 0.0020 Name\x3d99.694112 7 +12 2788810 CACNA1C C T 11 0.019369 0.0678 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0681 synonymous_SNV exonic . 0.044579 . . . . . . . . 0.0613 Name\x3d99.722031 -1 +12 2788879 CACNA1C G A 137 0.526358 0.7400 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign . . . 0.7357 synonymous_SNV exonic . 0.628414 . . . . . . . . 0.7295 Name\x3d99.549075 -3 +12 2788925 CACNA1C C A 1 0.000199681 . . . . . . . . 9.595e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.646159 5 +12 2789787 na A G 13 0.189097 0.0439 . . . . . . . 0.0449 . ncRNA_intronic . 0.0354717 . . . . . . . . 0.0338 . -2 +12 2789789 na C G 13 0.189097 0.0439 . . . . . . . 0.0466 . ncRNA_intronic . 0.0354394 . . . . . . . . 0.0340 . -2 +12 2791130 CACNA1C C T 170 0.669129 0.8197 0.086 MedGen:CN169374 not_specified Benign . . . 0.8096 nonsynonymous_SNV exonic . 0.726103 T . . . B T . . 0.8213 Name\x3d98.816671 2.5 +12 2791132 CACNA1C A G 174 0.770567 0.8267 0.106 MedGen:CN169374 not_specified Benign . . . 0.8186 nonsynonymous_SNV exonic . 0.0007827 T . . . B T . . 0.8310 Name\x3d98.793459 2.5 +12 2791205 CACNA1C A G 214 1 1 . MedGen:CN169374 not_specified Benign . . . 1 nonsynonymous_SNV exonic . 0.928746 . . . . . . . . 1 Name\x3d98.807959 2.5 +12 2791722 CACNA1C C T 1 0.000199681 0.0006 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided Likely_benign . . . 0.0006 synonymous_SNV exonic . 0.0004269 . . Name\x3dOREG1928344|N/A|TRIM28|PAZAR . . . . . 0.0006 Name\x3d99.719640 2 +12 2794977 CACNA1C G A 4 0.0359425 0.0202 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:C2711754|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0298 synonymous_SNV exonic . 0.0253748 . . . . . . . . . Name\x3d99.578635 -1 +12 2795023 na C T 1 0.0159744 0.0002 . 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 . . . 3.813e-05 . ncRNA_intronic . 0.0045213 . . . . . . . . . Name\x3d98.196180 -5 +12 2795255 na C T 199 0.770767 0.9554 . . . . . . . . . ncRNA_intronic . 0.0001153 . . . . . . . . . Name\x3d95.652066 -1 +12 2797824 CACNA1C C T 1 0.000399361 6.494e-05 0.108 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Uncertain_significance . . . 5.644e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . B T . . . Name\x3d99.294279 6.5 +12 2798006 na C T 1 0.000399361 0.0009 . . . . . . . . . ncRNA_intronic . 0.0013831 . . . . . . . . . . 0 +12 5153694 KCNA5 C T 5 0.0147764 0.0416 . MedGen:C2677106,OMIM:612240|MedGen:C3468561,Orphanet:ORPHA334 Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation Benign/Likely_benign Name\x3dENSR00000449123|Promoter . . 0.0376 synonymous_SNV exonic . 0.0275029 . . . . . . . . 0.0411 Name\x3d99.913473 -4 +12 5153820 KCNA5 G T 1 0.000199681 . . . . . Name\x3dENSR00000449123|Promoter . . 1.855e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.932107 4 +12 5154064 KCNA5 G A 2 0.0081869 0.0181 1.589 MedGen:C2677106,OMIM:612240|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374 Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation|not_specified Benign/Likely_benign Name\x3dENSR00000449123|Promoter . . 0.0119 nonsynonymous_SNV exonic . 0.0127036 T . . . B T . . 0.0127 Name\x3d99.914867 -2.5 +12 5154232 KCNA5 C T 1 0.00139776 0.0035 -2.109 MedGen:C2677106,OMIM:612240|MedGen:CN231063 Atrial_fibrillation,_familial,_7|altered_potassium_channel_function Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000449123|Promoter . . 0.0030 nonsynonymous_SNV exonic . 0.0021022 D . . . B T . . 0.0028 Name\x3d99.823197 6 +12 5154242 KCNA5 C T 1 0.00319489 0.0055 1.204 MedGen:C2677106,OMIM:612240|MedGen:CN169374 Atrial_fibrillation,_familial,_7|not_specified Benign Name\x3dENSR00000449123|Promoter . . 0.0054 nonsynonymous_SNV exonic . 0.0039974 T . . . B T . . 0.0064 Name\x3d99.836173 -0.5 +12 5154277 KCNA5 G T 1 0.000199681 . 5.771 . . . Name\x3dENSR00000449123|Promoter . . 1.853e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.899245 10 +12 5154462 KCNA5 T C 214 0.98103 0.9999 . MedGen:C2677106,OMIM:612240|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374 Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation|not_specified Benign/Likely_benign Name\x3dENSR00000449123|Promoter . . 1.0000 synonymous_SNV exonic . 0.0001423 . . . . . . . . 0.9999 Name\x3d99.867730 -4 +12 5155046 KCNA5 G A 2 0.00319489 0.0084 0.664 MedGen:C2677106,OMIM:612240|MedGen:C4551804,OMIM:601144|MedGen:CN169374 Atrial_fibrillation,_familial,_7|Brugada_syndrome_1|not_specified Benign Name\x3dENSR00000449123|Promoter . . 0.0082 nonsynonymous_SNV exonic . 0.0059184 T . . . B D . . 0.0093 Name\x3d99.856854 -2 +12 5155130 KCNA5 A G 1 0.000199681 . 5.406 . . . Name\x3dENSR00000449123|Promoter . . 1.895e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.918375 10 +12 21918616 KCNJ8 G A 1 0.000199681 . . . . . . . . 0.0001 . UTR3 . 8.41e-05 . . . . . . . . 0.0002 . 2 +12 21918667 KCNJ8 G A 1 0.000199681 0.0005 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 . . . 0.0026 nonsynonymous_SNV exonic . 0.0014618 T . . . B T . . 0.0022 Name\x3d98.098618 6.5 +12 21926614 KCNJ8 C T 1 0.000199681 . . . . . Name\x3dENSR00000049646|Promoter . . . . UTR5 . 3.84e-05 . . Name\x3dOREG1575939|N/A|FOXA1|PAZAR,OREG1634675|N/A|FOXA1|PAZAR . . . . . . . 4 +12 21960458 ABCC9 T C 1 0.000199681 . . . . . . . . 1.845e-05 . intronic . 1.29e-05 . . . . . . . . . . 4 +12 21962721 ABCC9 G A 1 0.000998403 6.483e-05 . . . . . . . . . intronic . 0.0002305 . . . . . . . . . . 2 +12 21965173 ABCC9 CTTAG C 4 0.00638978 0.0086 . . . . . . . . . intronic . 0.0019594 . . . . . . . . . . 6 +12 21971087 ABCC9 A G 1 0.000998403 0.0031 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1837839,OMIM:608569|MedGen:CN169374 Cardiomyopathy|Dilated_cardiomyopathy_1O|not_specified Benign . . . 0.0032 synonymous_SNV exonic . 0.0019017 . . . . . . . . 0.0031 Name\x3d99.237309 -5 +12 21981916 ABCC9 G A 1 0.000199681 . . . . . . . . 1.84e-05 synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1574897|N/A|FOXA1|PAZAR,OREG1633616|N/A|FOXA1|PAZAR . . . . . . Name\x3d99.451843 6 +12 21991197 ABCC9 T C 4 0.0115815 0.0345 . . . . . . . . . intronic . 0.0057761 . . . . . . . . . . 0 +12 21995253 ABCC9 G A 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.285821 5 +12 21997678 ABCC9 G T 1 0.000199681 . . . . . . . . 3.686e-05 . intronic . 1.94e-05 . . . . . . . . . . 4 +12 21997874 ABCC9 C T 5 0.0501198 0.0347 . . . . . . . 0.0366 . intronic . 0.0356528 . . . . . . . . 0.0420 . 0 +12 21998493 ABCC9 A C 1 0.00239617 6.483e-05 . . . . . . . 0.0019 . intronic . 0.00174 . . . . . . . . 0.0007 . 2 +12 22001255 ABCC9 G A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +12 22001272 ABCC9 C T 5 0.0117812 0.0158 . . . . . . . . . intronic . 0.0032859 . . . . . . . . . . 0 +12 22005003 ABCC9 T G 84 0.334665 0.4031 . MedGen:CN169374 not_specified Benign . . . 0.4102 . intronic rs2307024|Offspring-birth-weight|0.016621|3E-8|PMID:31043758 0.382576 . . . . . . . . 0.4124 . 0 +12 22005167 ABCC9 C T 2 0.00259585 0.0139 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310 Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0090 . intronic . 0.0064876 . . . . . . . 0.036 0.0098 Name\x3d97.879803 5 +12 22005258 ABCC9 G T 13 0.0171725 0.0456 . . . . . . . 0.0512 . intronic . 0.0345144 . . . . . . . . 0.0512 . 0 +12 22005510 ABCC9 A G 214 0.994609 0.9999 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +12 22015858 ABCC9 G A 1 0.000199681 . . . . . . . . 2.008e-05 . intronic . 1.29e-05 . . . . . . . . 0.0001 . 4 +12 22016004 ABCC9 GA AA,GAA,G 1 0.360423 0.3192 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.4118 . intronic . 0.0193076 . . . . . . . . . . -2 +12 22017278 ABCC9 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d95.997264 5 +12 22017398 ABCC9 C T 1 0.000199681 . 3.625 . . . . . . 3.698e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . B T . . . Name\x3d99.052726 5 +12 22017410 ABCC9 C T 1 0.00399361 0.0089 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 . . . 0.0103 nonsynonymous_SNV exonic . 0.0077942 T . . . B T 0.0344 0.194 0.0132 Name\x3d99.147069 -1.5 +12 22017422 ABCC9 A G 214 0.998203 1 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 1 . intronic . 0.941288 . . . . . . 0.7220 0.39 1 Name\x3d99.030706 -0.5 +12 22017428 ABCC9 C G 1 0.000199681 . . . . . . . . 3.698e-05 . intronic . 1.94e-05 . . . . . . . . 0.0001 Name\x3d99.030706 5 +12 22017486 ABCC9 C G 214 0.998203 1 . . . . . . . . . intronic . 0.0001153 . . . . . . . . 1 . 0 +12 22025671 ABCC9 A G 1 0.000798722 0.0045 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1837839,OMIM:608569|MedGen:CN169374 Hypertrichotic_osteochondrodysplasia|Brugada_syndrome|Dilated_cardiomyopathy_1O|not_specified Benign/Likely_benign . . . 0.0039 . intronic . 0.0028072 . . . . . . 0.0001 0.002 0.0035 . -2 +12 22035615 ABCC9 A T 3 0.0391374 0.0156 . . . . . . . . . intronic . 0.0044372 . . . . . . . . . . 0 +12 22035847 ABCC9 T C 1 0.000199681 . . . . . . . . 3.7e-05 . intronic . 2.59e-05 . . . . . . . . . . 4 +12 22035873 ABCC9 C T 150 0.534744 0.7825 . . . . . . . . . intronic . 0.135432 . . . . . . . . . . 0 +12 22035883 ABCC9 T G 53 0.421925 0.2004 . . . . . . . . . intronic . 0.0519528 . . . . . . . . . . 0 +12 22040784 ABCC9 C A 2 0.000399361 0.0005 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 . . . 0.0002 nonsynonymous_SNV exonic . 0.000194 T . . . B T . . 0.0010 Name\x3d99.309743 12.5 +12 22040854 ABCC9 T G 1 0.000199681 6.478e-05 2.400 MedGen:C1837839,OMIM:608569 Dilated_cardiomyopathy_1O Uncertain_significance . . . 3.683e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . 0.0001 Name\x3d99.208202 6.5 +12 22047151 ABCC9 G T 214 0.997804 1 . MedGen:CN169374 not_specified Benign . . . 1.0000 . intronic . 0.934878 . . . . . . . . 1 . 0 +12 22047174 ABCC9 C T 166 0.686302 0.6842 . . . . . . . . . intronic . 0.131344 . . . . . . . . . . 0 +12 22059121 ABCC9 C T 2 0.000399361 0.0002 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1837839,OMIM:608569|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Dilated_cardiomyopathy_1O|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0006 synonymous_SNV exonic . 0.0003169 . . Name\x3dOREG1633617|N/A|FOXA1|PAZAR . . . . . 0.0002 Name\x3d99.613253 12 +12 22059244 ABCC9 A G 1 0.000199681 . . . . . . . . 3.902e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d95.635949 5 +12 22063115 ABCC9 A G 214 0.997204 1 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000965892|Enhancer . . 1.0000 synonymous_SNV exonic . 0.941314 . . . . . . . . 1 Name\x3d99.146457 0 +12 22063251 ABCC9 CA C 72 0.375799 0.4676 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310 Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.4487 . intronic . 0.0001164 . . . . . . . . . . -2 +12 22063737 ABCC9 G T 214 0.991613 0.9997 . MedGen:CN169374 not_specified Benign . . . 0.9998 . intronic . 0.00011 . . . . . . . . 0.9998 . 0 +12 22063749 ABCC9 T C 214 0.991613 0.9997 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.9998 . intronic . 0.0001164 . . . . . . . . 0.9998 . -2 +12 22063971 ABCC9 A G 154 0.667332 0.6022 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +12 22068591 ABCC9 C T 1 0.000399361 . . MedGen:CN169374 not_specified Likely_benign . . . 0.0001 . intronic . 0.0001229 . . . . . . . . 0.0001 Name\x3d98.197308 5 +12 22068849 ABCC9 G T 148 0.644768 0.5918 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.6004 . intronic . 0.600891 . . . . . . 0.0003 0.1 0.5925 Name\x3d98.653107 -1 +12 22078838 ABCC9 T G 155 0.701677 0.6030 . MedGen:CN169374 not_specified Benign . . . 0.6145 . intronic . 0.628918 . . . . . . . . 0.6074 . 0 +12 22089425 ABCC9 A G 1 0.00199681 0.0078 . . . . . . . 0.0101 . intronic . 0.0059637 . . . . . . . . 0.0088 . 0 +12 25362777 KRAS A G 46 0.175519 0.2130 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified|not_provided Benign . . . 0.2221 synonymous_SNV exonic . 0.194758 . . . . . . . . 0.2160 Name\x3d99.450857 -5 +12 25362854 KRAS C T 1 0.0836661 0.0035 . 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 . 0.0269013 . . . . . . 0.0009 0.062 0.0049 Name\x3d98.923621 -3 +12 25368462 KRAS C T 214 0.997604 1 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign . . . 1 synonymous_SNV exonic . 0.936689 . . . . . . . . 1 Name\x3d99.523630 -1 +12 25398162 KRAS A C 1 0.000399361 0.0019 . MedGen:CN169374 not_specified Likely_benign . . . 0.0033 . intronic . 0.0015459 . . . . . . . . 0.0031 Name\x3d98.040179 1 +12 32945486 PKP2 G T 6 0.0339457 0.0243 . . . . . . . . . intronic . 0.0054851 . . . . . . . . 0.0283 Name\x3d95.639552 1 +12 32945495 PKP2 C T 143 0.450479 0.6576 . . . . . . . . . intronic . 0.115354 . . . . . . . . . Name\x3d96.122638 1 +12 32945721 PKP2 G T 143 0.45028 0.6579 . . . . . . . . . intronic . 0.115354 . . . . . . . . 0.6760 Name\x3d98.798832 1 +12 32949029 PKP2 A AG 23 0.318291 0.1390 . 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 Benign/Likely_benign . . . 0.1402 . intronic . 0.0059637 . . . . . . . . 0.1393 Name\x3d97.767636 -3 +12 32949101 PKP2 G T 2 0.000599042 0.0006 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 . 0.000815 T . . . B D . . 0.0006 Name\x3d99.868951 14 +12 32949252 PKP2 AC A 23 0.304912 0.1195 . MedGen:CN169374 not_specified Benign . . . 0.1114 . intronic . 0.000304 . . . . . . . . 0.1207 Name\x3d96.915329 1 +12 32974245 PKP2 C T 177 0.591653 0.8152 . MedGen:CN169374 not_specified Benign . . . 0.8161 . intronic . 0.702416 . . . . . . . . 0.8183 Name\x3d99.032486 1 +12 32974352 PKP2 G A 1 0.000199681 0.0001 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 . . . 0.0001 nonsynonymous_SNV exonic . 0.0001423 D . . . D D . . . Name\x3d99.909625 11 +12 32974523 PKP2 C T 2 0.00399361 0.0110 . . . . . . . . . intronic . 0.0019469 . . . . . . . . . Name\x3d99.438194 1 +12 32977103 PKP2 G GA 2 0.00219649 0.0054 . MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Benign/Likely_benign . . . 0.0054 . intronic . 0.0001035 . . . . . . . . 0.0044 Name\x3d99.227632 1 +12 32994144 PKP2 A G 1 0.000199681 . . MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Conflicting_interpretations_of_pathogenicity . . . 3.682e-05 . intronic . 2.59e-05 . . . . . . 0.0059 0.038 0.0001 Name\x3d99.739357 9 +12 32994180 PKP2 G T 1 0.000199681 . . . . . . . . 1.844e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.547518 5 +12 33003918 PKP2 A G 1 0.00279553 0.0039 . MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Benign/Likely_benign Name\x3dENSR00000454896|Enhancer . . 0.0035 . intronic . 0.0029042 . . . . . . 0.0002 0.038 0.0030 Name\x3d99.129710 2 +12 33021934 PKP2 A G 37 0.151358 0.2195 0.112 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.2072 nonsynonymous_SNV exonic . 0.183161 T . . . B T . . 0.2301 Name\x3d99.695445 -1.5 +12 33030802 PKP2 T C 1 0.000998403 0.0006 -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 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000454924|Enhancer . . 0.0028 nonsynonymous_SNV exonic . 0.0016365 T . . . B T . . 0.0022 Name\x3d99.908348 13.5 +12 33031309 PKP2 T C 1 0.000199681 0.0012 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 . . Name\x3dMIMAT0000279|hsa-miR-222-3p|Experimental 0.0014 nonsynonymous_SNV exonic . 0.0010996 T . . . B T . . 0.0019 Name\x3d99.865158 13.5 +12 33031799 PKP2 A G 1 0.00179712 0.0072 . . . . . . . . . intronic . 0.0009767 . . . . . . . . . Name\x3d99.016007 3 +12 33049590 PKP2 C T 2 0.00299521 0.0081 6.871 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 Benign/Likely_benign Name\x3dENSR00000050745|Promoter . . 0.0230 nonsynonymous_SNV exonic . 0.0058925 D . Name\x3dOREG1177020|N/A|TFAP2C|PAZAR,OREG1497724|N/A|EGR1|PAZAR . D D . . 0.0068 Name\x3d99.954482 5 +12 98909876 TMPO C T 1 0.000199681 . . . . . Name\x3dENSR00000056128|Promoter . . 4.381e-05 synonymous_SNV exonic . 3.23e-05 . . Name\x3dOREG1251609|N/A|SMARCA4|PAZAR,OREG1169900|N/A|TFAP2C|PAZAR,OREG1490154|N/A|EGR1|PAZAR,OREG1221463|N/A|SMARCA4|PAZAR,OREG1792011|N/A|RBL2|PAZAR . . . . . . Name\x3d98.774619 7 +12 98925650 TMPO G T 110 0.530351 0.5641 . . . . . . . 0.5553 . intronic . 0.526552 . . . . . . . . 0.5688 . 0 +12 98926985 TMPO C G 1 0.0299521 0.0014 3.863 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2674574,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0015 nonsynonymous_SNV exonic . 0.010168 T . Name\x3dOREG1251610|N/A|SMARCA4|PAZAR . B D . . 0.0017 Name\x3d99.262299 0 +12 98927147 TMPO C G 1 0.000199681 . 5.570 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d99.367424 8 +12 98927278 TMPO T G 1 0.000199681 . 0.194 . . . . . . 9.209e-05 nonsynonymous_SNV exonic . 5.17e-05 T . . . B D . . 0.0001 Name\x3d98.925601 5 +12 98927830 TMPO C G 29 0.0589058 0.0945 1.914 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000972255|Enhancer . . 0.0983 nonsynonymous_SNV exonic . 0.0845397 T . Name\x3dOREG1734232|N/A|HNF4A|PAZAR,OREG1709425|N/A|HNF4A|PAZAR . P T . . 0.0965 Name\x3d99.334910 4.5 +12 98938894 TMPO T C 1 0.000199681 7.183e-05 . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 4 +12 98938907 TMPO G T 99 0.444089 0.0115 . . . . . . . . . intronic . 0.0879822 . . . . . . . . . . 0 +12 98938911 TMPO T TG 4 0.0425319 0.0142 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +12 98940228 TMPO A AT 23 0.086262 0.0844 . MedGen:CN169374 not_specified Benign . . . 0.0731 . intronic . 0.0024838 . . . . . . . . 0.0840 Name\x3d99.262833 1 +12 98940250 TMPO A G 1 0.000199681 . . . . . . . . 0.0001 . intronic . 0.0001746 . . . . . . . . 0.0001 . 4 +12 98940289 TMPO T A 3 0.00199681 0.0039 . . . . . . . . . intronic . 0.0007115 . . . . . . . . . . 6 +12 98941637 TMPO A G 2 0.00279553 0.0040 . MedGen:CN169374 not_specified Likely_benign . . . 0.0053 . UTR3 . 0.0037322 . . . . . . . . 0.0059 Name\x3d99.244344 3 +12 111350807 MYL2 G A 3 0.00439297 0.0175 . . . . . . . . . intronic . 0.0023868 . . . . . . . . . . 0 +12 111350999 MYL2 G A,T 3 0.00439297 0.0176 . . . . . . . 0.0140 . intronic . 0.0109701 . . . . . . . . . Name\x3d98.757976 1 +12 111351002 MYL2 CA C 1 0.0449281 0.0002 . . . . . . . 0.0003 . intronic . 0.0002781 . . . . . . . . 0.0005 Name\x3d98.532868 1 +12 111351003 MYL2 A AG 11 0.10024 0.0725 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202 Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided Benign . . . 0.0710 . intronic . 0.0071668 . . . . . . . . 0.0664 Name\x3d98.532868 -3 +12 111351029 MYL2 TC T 57 0.252596 0.3080 . MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_10|not_specified|not_provided Benign . . . 0.2951 . intronic . 0.0086157 . . . . . . . . 0.3138 Name\x3d98.955156 -3 +12 111351186 MYL2 C T 11 0.102636 0.0723 . MedGen:CN517202 not_provided not_provided . . . . . intronic . 0.015058 . . . . . . . . 0.0644 Name\x3d97.151560 1 +12 111351204 MYL2 T G 3 0.00439297 0.0175 . . . . . . . . . intronic . 0.0023609 . . . . . . . . . Name\x3d97.665065 1 +12 111351932 MYL2 C A 3 0.00439297 0.0176 . . . . . . . . . intronic . 0.0107192 . . . . . . . . . . 0 +12 111351937 MYL2 C T 11 0.0982428 0.0726 . . . . . . . . . intronic . 0.0753419 . . . . . . . . . . 0 +12 111351973 MYL2 C CAG 3 0.00539137 0.0176 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1834460,OMIM:608758 Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10 Benign . . . 0.0139 . intronic . 0.0002652 . . . . . . . . 0.0134 Name\x3d95.730780 -7 +12 111353556 MYL2 A G 15 0.115216 0.0900 . 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 . . . 0.0854 synonymous_SNV exonic . 0.099643 . . . . . . . . 0.0801 Name\x3d99.934138 -3 +12 111357074 MYL2 T A 15 0.166134 0.0901 . . . . Name\x3dENSR00000469763|Promoter . . . . intronic . 0.0203296 . . . . . . . . . Name\x3d97.406044 2 +12 111358234 MYL2 G A 3 0.0207668 0.0140 . . . . Name\x3dENSR00000469763|Promoter . . . . intronic . 0.0022251 . . . . . . . . 0.0116 Name\x3d98.765627 2 +12 111358252 MYL2 C G 2 0.00119808 0.0019 . . . . Name\x3dENSR00000469763|Promoter . . . . intronic . 0.0003558 . . . . . . . . . Name\x3d98.370126 4 +12 111358266 MYL2 C T 3 0.0155751 0.0143 . . . . Name\x3dENSR00000469763|Promoter . . . . intronic . 0.0025291 . . . . . . . . 0.0116 Name\x3d98.842829 2 +12 111358423 MYL2 A G 1 0.000199681 . . . . . . . . . . upstream . 3.84e-05 . . . . . . . . . Name\x3d99.815549 5 +12 112856954 PTPN11 G C 2 0.0632987 0.0177 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign Name\x3dENSR00000057523|Promoter . . 0.0099 . intronic . 0.0070956 . . Name\x3dOREG1487050|N/A|EGR1|PAZAR,OREG1167254|N/A|TFAP2C|PAZAR,OREG1249163|N/A|SMARCA4|PAZAR,OREG1219070|N/A|SMARCA4|PAZAR,OREG1876458|N/A|STAT1|PAZAR . . . . . . Name\x3d99.618165 2 +12 112856983 PTPN11 C A 2 0.0453275 0.0176 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006 Noonan_syndrome Benign Name\x3dENSR00000057523|Promoter . . . . intronic . 0.0217458 . . Name\x3dOREG1487050|N/A|EGR1|PAZAR,OREG1876458|N/A|STAT1|PAZAR,OREG1219070|N/A|SMARCA4|PAZAR,OREG1249163|N/A|SMARCA4|PAZAR,OREG1167254|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.767916 2 +12 112888140 PTPN11 C T 1 0.000199681 . . . . . . . . 1.84e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.767811 3 +12 112891203 PTPN11 G C 2 0.00599042 0.0146 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Noonan_syndrome|Rasopathy|not_specified|not_provided Benign . . . 0.0149 . intronic . 0.0102263 . . . . . . . . 0.0127 Name\x3d98.361145 -1 +12 112893675 PTPN11 GTTT GTT 104 . . . . . . . . . . . intronic . . . . . . . . . . . Name\x3d97.537355 13 +12 112910723 PTPN11 A G 1 0.000199681 0.0008 . . . . . . . 0.0006 . intronic . 0.0003105 . . . . . . . . 0.0006 Name\x3d98.735471 1 +12 112915434 PTPN11 C T 11 0.0365415 0.0800 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign . . . 0.0785 . intronic . 0.0604003 . . . . . . . . 0.0741 Name\x3d96.940777 1 +12 112919869 PTPN11 C A 1 0.0429313 0.0162 . 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 . . . 0.0104 . intronic . 0.0195793 . . . . . . 0.0068 0.106 0.0107 Name\x3d99.002032 0 +12 114793297 TBX5 T C 3 0.0806709 0.0046 . MedGen:C0265264,OMIM:142900,SNOMED_CT:19092004|MedGen:CN169374 Holt-Oram_syndrome|not_specified Benign . . . 0.0051 . UTR3 . 0.0318042 . . . . . . . . 0.0028 Name\x3d98.156487 -1 +12 114803927 TBX5 A G 1 0.000798722 . -0.076 . . . . . . . . intronic . 0.0001035 T . . . B D . . . Name\x3d99.566178 1 +12 114803954 TBX5 G A 1 0.00239617 0.0094 -0.054 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Likely_benign . . . 0.0076 . intronic . 0.0056791 T . . . D T . . 0.0097 Name\x3d99.353174 1 +12 114832510 TBX5 C A 129 0.528754 0.6126 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.6266 . intronic . 0.592625 . . . . . . . . 0.6307 Name\x3d98.128885 -1 +12 114841589 TBX5 G A 2 0.000798722 . 5.798 . . . Name\x3dENSR00000470627|Promoter . . 3.762e-05 nonsynonymous_SNV exonic . 8.41e-05 D . Name\x3dOREG1820206|N/A|RBL2|PAZAR . P D . . . Name\x3d99.930310 6 +14 23851325 MYH6 G A 1 0.0485224 0.0041 . . . . . . . . . intronic . 0.0029948 . . . . . . . . 0.0041 . 0 +14 23851400 MYH6 C T 30 0.122005 0.1157 . . . . . . . . . intronic . 0.0221731 . . . . . . . . . . 1 +14 23852497 MYH6 T C 1 0.0848642 0.0044 . 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 . . . 0.0033 synonymous_SNV exonic . 0.0258276 . . . . . . . . 0.0069 Name\x3d99.883800 -3 +14 23852537 MYH6 T G 19 0.240415 0.0265 . . . . . . . 0.0115 . intronic . 0.0078071 . . . . . . . 0.014 . Name\x3d97.511401 1 +14 23852541 MYH6 A G 19 0.241214 0.0253 . . . . . . . 0.0091 . intronic . 0.0078265 . . . . . . 0.0001 0.002 . . 0 +14 23852545 MYH6 T G 18 0.240016 0.0224 . . . . . . . 0.0970 . intronic . 0.0077877 . . . . . . . . . . 0 +14 23852548 MYH6 G A 3 0.0523163 . . . . . . . . 0.0006 . intronic . 0.0016947 . . . . . . . . . . 0 +14 23852550 MYH6 G A 9 0.141573 0.0001 . . . . . . . 0.0082 . intronic . 0.0045989 . . . . . . . . . . 0 +14 23853629 MYH6 T C 75 0.229633 0.2396 . MedGen:CN169374 not_specified Benign . . . 0.2694 . intronic . 0.2499 . . . . . . . . 0.2644 . 0 +14 23853739 MYH6 C T 1 0.000399361 0.0002 1.468 . . . . . . 0.0003 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d99.906427 6.5 +14 23853740 MYH6 C T 1 0.000399361 0.0002 0.952 . . . . . . 0.0003 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d99.906427 6.5 +14 23854155 MYH6 G A 29 0.0363419 0.1116 . 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 . . . 0.1045 synonymous_SNV exonic . 0.0772823 . . . . . . . . 0.1158 Name\x3d99.826898 0 +14 23854272 MYH6 T C 19 0.072484 0.0785 . MedGen:CN169374 not_specified Benign . . . 0.0898 . intronic . 0.0795915 . . . . . . . . 0.0844 . 1 +14 23854324 MYH6 A G 124 0.488019 0.4519 . . . . . . . . . intronic . 0.0920234 . . . . . . . . . Name\x3d97.203124 1 +14 23855320 MYH6 G A 29 0.0365415 0.1116 . 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 . . . 0.1047 synonymous_SNV exonic . 0.0777868 . . . . . . . . 0.1159 Name\x3d99.760304 0 +14 23855357 MYH6 T A 1 0.0489217 0.0042 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0031 . intronic . 0.0153426 . . . . . . . . 0.0059 . 4 +14 23855478 MYH6 C G 29 0.0365415 0.1114 . MedGen:CN169374 not_specified Benign . . . 0.1038 . intronic . 0.0767778 . . . . . . . . 0.1149 . 1 +14 23855511 MYH6 C T 3 0.00539137 0.0130 . 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 . . . 0.0144 . intronic . 0.00967 . . . . . . . . 0.0109 Name\x3d96.810167 5 +14 23855569 MYH6 A G 124 0.492812 0.4530 . 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 . . . 0.4844 synonymous_SNV exonic . 0.433811 . . . . . . . . 0.4855 Name\x3d99.731303 -1 +14 23855645 MYH6 A G 1 0.048722 0.0044 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 . . . 0.0030 nonsynonymous_SNV exonic . 0.0029495 T . . . B T . . 0.0019 Name\x3d99.874320 -1.5 +14 23855705 MYH6 T A 1 0.0491214 0.0041 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 . . . 0.0030 nonsynonymous_SNV exonic . 0.0029172 T . . . B T . . 0.0034 Name\x3d99.694755 -1.5 +14 23855711 MYH6 T C 1 0.000599042 0.0001 4.594 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_14|not_specified|not_provided Uncertain_significance . . . 3.68e-05 nonsynonymous_SNV exonic . 9.06e-05 D . . . D D . . 0.0001 Name\x3d99.896955 6 +14 23855849 MYH6 C T 74 0.235224 0.2390 . MedGen:CN169374 not_specified Benign . . . 0.2698 . intronic . 0.247021 . . . . . . . . 0.2634 Name\x3d96.350017 1 +14 23856714 MYH6 G A 14 0.019369 0.0334 . . . . . . . 0.0413 . intronic . 0.0303489 . . . . . . . . 0.0417 . 0 +14 23856861 MYH6 C T 1 0.0325479 0.0043 . 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 synonymous_SNV exonic . 0.0112806 . . . . . . 0.0269 0.166 0.0057 Name\x3d99.643398 -3 +14 23856896 MYH6 A G 96 0.471645 0.5002 . MedGen:CN169374 not_specified Benign . . . 0.4970 . intronic . 0.490039 . . . . . . . . 0.4965 . 0 +14 23857100 MYH6 C T 1 0.000199681 . . . . . . . . 3.682e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d99.848252 5 +14 23857351 MYH6 G A 95 0.419728 0.3462 . 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 . . . 0.3588 . intronic . 0.346321 . . . . . . . . 0.3660 Name\x3d96.733952 -1 +14 23858008 MYH6 C T 1 0.000998403 0.0029 . . . . . . . . . intronic . 0.0003105 . . . . . . . . . Name\x3d99.045804 3 +14 23858232 MYH6 C T 30 0.0347444 0.1168 . 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 . . . 0.1078 synonymous_SNV exonic . 0.0789964 . . . . . . . . 0.1172 Name\x3d99.902271 0 +14 23858275 MYH6 G C 1 0.0279553 0.0077 . 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 . . . 0.0070 . intronic . 0.011203 . . . . . . 0.0002 0.026 . Name\x3d98.665719 -1 +14 23858697 MYH6 C G 3 0.00419329 0.0026 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 . . . 0.0024 nonsynonymous_SNV exonic . 0.003247 D . . . D D . . 0.0044 Name\x3d99.898914 9 +14 23859551 MYH6 G C 1 0.000199681 . 5.232 MedGen:CN169374 not_specified Uncertain_significance . . . 0.0003 nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.932802 11 +14 23859610 MYH6 C T 35 0.0728834 0.1119 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 . . . 0.1203 nonsynonymous_SNV exonic . 0.091894 T . . . P T . . . Name\x3d99.917217 -1 +14 23859714 MYH6 C T 10 0.0992412 0.0678 . . . . . . . . . intronic . 0.0139325 . . . . . . . . . Name\x3d98.029449 1 +14 23861811 MYH6 A G 87 0.3748 0.3666 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 . . . 0.3613 nonsynonymous_SNV exonic rs365990|Resting-heart-rate|0.7840639|4E-10|PMID:28270201 0.334659 T . . . B T . . 0.3737 Name\x3d99.907217 0.5 +14 23862710 MYH6 C T 2 0.00419329 0.0147 . 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 . . . 0.0131 synonymous_SNV exonic . 0.0096506 . . . . . . . . 0.0120 Name\x3d99.934523 -3 +14 23862783 MYH6 C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +14 23862785 MYH6 A T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +14 23863152 MYH6 A G 4 0.0585064 0.0067 . . . . . . . 0.0115 . intronic . 0.0257435 . . . . . . . . 0.0099 Name\x3d98.127534 1 +14 23863247 MYH6 A G 1 0.000199681 . . . . . . . . . . intronic . 1.29e-05 . . . . . . . . . . 4 +14 23865885 MYH6 G A 84 0.367812 0.3590 . MedGen:CN169374 not_specified Benign . . . 0.3525 . intronic rs452036|Pulse-pressure|0.27|2E-16|PMID:27618448 0.339006 . . . . . . . . 0.3628 . 1 +14 23866146 MYH6 G C 11 0.0325479 0.0099 . . . . . . . 0.0146 . intronic . 0.0213257 . . . . . . . . 0.0124 . 0 +14 23866189 MYH6 G A 11 0.0339457 0.0100 . 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 . . . 0.0148 synonymous_SNV exonic . 0.021785 . . . . . . . . 0.0127 Name\x3d99.914829 -3 +14 23866713 MYH6 A G 73 0.30651 0.3235 . MedGen:CN169374 not_specified Benign . . . 0.3140 . intronic . 0.291173 . . . . . . . . 0.3187 Name\x3d95.363987 1 +14 23866872 MYH6 C G 2 0.000399361 0.0005 . . . . . . . 0.0007 . intronic . 0.000401 . . . . . . . . . . 2 +14 23866925 MYH6 G C 3 0.0499201 0.0056 . . . . . . . . . intronic . 0.0038098 . . . . . . . . . . 0 +14 23868285 MYH6 G A 64 0.16873 0.2597 . MedGen:CN169374 not_specified Benign . . . 0.2591 . intronic . 0.211808 . . . . . . . . 0.2597 . 0 +14 23869665 MYH6 CA C 1 0.00379393 0.0093 . . . . . . . 0.0107 . intronic . 0.0002652 . . . . . . . . 0.0118 Name\x3d96.904842 1 +14 23869993 MYH6 G A 26 0.0321486 0.0556 . 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 . . . 0.0688 synonymous_SNV exonic . 0.0529877 . . . . . . . . 0.0620 Name\x3d99.865212 -1 +14 23871753 MYH6 G A 1 0.000199681 . 4.859 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . P D . . . Name\x3d99.894652 8 +14 23871840 MYH6 G T 1 0.00119808 0.0059 . . . . Name\x3dENSR00000492685|Promoter . . 0.0068 . intronic . 0.0046248 . . . . . . . . 0.0060 . 3 +14 23871909 MYH6 G A 3 0.0423323 0.0055 . 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 Name\x3dENSR00000492685|Promoter . . 0.0103 synonymous_SNV exonic . 0.0195728 . . . . . . . . 0.0087 Name\x3d99.812513 -2 +14 23871999 MYH6 C T 2 0.0311502 0.0008 . 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 Name\x3dENSR00000492685|Promoter . . 0.0006 synonymous_SNV exonic . 0.0091137 . . . . . . . . 0.0007 Name\x3d99.875589 -2 +14 23872666 MYH6 T C 159 0.784944 0.7590 . 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 Name\x3dENSR00000492685|Promoter . . 0.7616 . intronic . 0.0001423 . . . . . . . . 0.7680 Name\x3d98.013707 0 +14 23873021 MYH6 C T 9 0.0455272 0.0299 . . . . Name\x3dENSR00000492685|Promoter . . 0.0378 . intronic . 0.0289194 . . . . . . . . 0.0364 Name\x3d98.029508 2 +14 23873056 MYH6 A C 1 0.00139776 0.0034 . . . . Name\x3dENSR00000492685|Promoter . . . . intronic . 0.0006339 . . . . . . . . 0.0047 Name\x3d97.253559 4 +14 23873092 MYH6 G A 61 0.159145 0.2564 . . . . Name\x3dENSR00000492685|Promoter . . . . intronic . 0.0366425 . . . . . . . . . . 1 +14 23873940 MYH6 C T 2 0.00199681 0.0060 3.478 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000492685|Promoter . . 0.0087 nonsynonymous_SNV exonic . 0.0053686 T . . . B T . . 0.0069 Name\x3d99.923043 1.5 +14 23874364 MYH6 G A 1 0.000199681 0.0002 . . . . Name\x3dENSR00000492685|Promoter . . 9.2e-05 . intronic . 4.53e-05 . . . . . . . . 0.0001 . 5 +14 23874507 MYH6 G T 27 0.0776757 0.0995 . 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 Name\x3dENSR00000492685|Promoter . . 0.1056 synonymous_SNV exonic . 0.0926443 . . . . . . . . 0.1095 Name\x3d99.918043 0 +14 23874523 MYH6 C T 61 0.154353 0.2605 . 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 Name\x3dENSR00000492685|Promoter . . 0.2609 synonymous_SNV exonic . 0.209881 . . . . . . . . 0.2608 Name\x3d99.885635 0 +14 23874541 MYH6 C T 9 0.0571086 0.0858 . 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 Name\x3dENSR00000492685|Promoter . . 0.0805 synonymous_SNV exonic . 0.0691712 . . . . . . . . 0.0884 Name\x3d99.927291 0 +14 23874851 MYH6 C T 1 0.00139776 0.0072 . 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 Name\x3dENSR00000492685|Promoter . . 0.0052 synonymous_SNV exonic . 0.003661 . . . . . . . . 0.0051 Name\x3d99.900130 12 +14 23876216 MYH6 G A 9 0.0497204 0.0301 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000492685|Promoter . . 0.0289 . intronic . 0.0310992 . . . . . . . . 0.0364 . 1 +14 23876267 MYH6 C T 9 0.0567093 0.0854 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 Name\x3dENSR00000492685|Promoter . . 0.0805 nonsynonymous_SNV exonic . 0.0673342 T . . . D D . . 0.0883 Name\x3d99.738408 3 +14 23876347 MYH6 C T 1 0.00419329 0.0003 3.306 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000492685|Promoter . . 0.0003 nonsynonymous_SNV exonic . 0.0014165 T . . . P T . . 0.0002 Name\x3d99.869857 13.5 +14 23881950 MYH7 C T 19 0.0636981 0.0759 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . . . UTR3 . 0.0138226 . . . . . . . . . Name\x3d99.771126 -1 +14 23882043 MYH7 C T 1 0.00139776 0.0073 . 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:C4552004,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 . . . 0.0080 . UTR3 . 0.0053492 . . . . . . . . 0.0066 Name\x3d98.786623 1 +14 23882144 MYH7 T C 81 0.384385 0.3720 . . . . . . . . . intronic . 0.0711246 . . . . . . . . 0.3705 Name\x3d96.876321 1 +14 23882186 MYH7 T G 72 0.351038 0.3639 . . . . . . . . . intronic . 0.066351 . . . . . . . . . Name\x3d96.461272 1 +14 23883184 MYH7 C T 34 0.134984 0.1652 . MedGen:CN169374 not_specified Benign . . . 0.1566 . intronic . 0.133963 . . . . . . . . 0.1524 Name\x3d96.414736 1 +14 23883374 MYH7 C T 1 0.00479233 0.0005 . . . . . . . . . intronic . 0.0002458 . . . . . . . . . . 2 +14 23883404 MYH7 C G 19 0.0617013 0.0751 . . . . . . . . . intronic . 0.0134604 . . . . . . . . . . 0 +14 23884137 MYH7 T A 19 0.116813 0.1213 . . . . . . . . . intronic . 0.0227423 . . . . . . . . . . 0 +14 23884174 MYH7 G T 1 0.000199681 0.0002 . . . . . . . 0.0002 . intronic . 7.76e-05 . . . . . . . . 0.0001 . 4 +14 23884524 MYH7 C A 9 0.0309505 0.0074 . MedGen:CN169374 not_specified Benign . . . 0.0113 . intronic . 0.0195664 . . . . . . . . 0.0098 Name\x3d98.581077 1 +14 23884889 MYH7 C T 19 0.117612 0.1214 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.1148 synonymous_SNV exonic . 0.10853 . . . . . . . . 0.1317 Name\x3d99.956978 -3 +14 23884981 MYH7 C T 1 0.000199681 . 4.429 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . B D . . . Name\x3d99.961127 8 +14 23886010 MHRT G T 1 0.000199681 0.0003 . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 2 +14 23886155 MYH7 A G 3 0.0111821 0.0139 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0078 synonymous_SNV exonic . 0.0119339 . . . . . . . . 0.0067 Name\x3d99.942853 -3 +14 23886264 MHRT C T 35 0.136981 0.1640 . . . . . . . . . ncRNA_intronic . 0.0289906 . . . . . . . . . Name\x3d96.574244 -1 +14 23886409 MYH7 G C 3 0.00519169 0.0112 3.122 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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign . . . 0.0103 nonsynonymous_SNV exonic . 0.008137 T . . . B D . . 0.0115 Name\x3d99.951914 -7 +14 23886509 MYH7 G C 1 0.000199681 . 4.335 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.940907 8 +14 23886597 MHRT C A 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . Name\x3d98.113237 3 +14 23887645 MYH7 T C 73 0.351238 0.3611 . MedGen:CN169374 not_specified Benign . . . 0.3636 . intronic . 0.315158 . . . . . . . . 0.3634 Name\x3d99.429998 1 +14 23888323 MYH7 T TG 73 0.337061 0.3603 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Uncertain_significance . . . . . intronic . 0.0472115 . . . . . . . . . Name\x3d95.776626 1 +14 23888368 MYH7 C T 1 0.000199681 . . . . . . . . 1.84e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.115275 5 +14 23888371 MYH7 G A 2 0.00459265 0.0204 . 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:C4552004,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 . . . 0.0161 . intronic . 0.0114811 . . . . . . . . 0.0135 Name\x3d99.287787 -1 +14 23888665 MYH7 A T 73 0.336661 0.3608 . MedGen:CN169374 not_specified Benign . . . 0.3504 . intronic . 0.314136 . . . . . . . . 0.3628 Name\x3d97.431162 1 +14 23888671 MYH7 G A 1 0.00179712 0.0055 . MedGen:CN169374 not_specified Benign . . . 0.0054 . intronic . 0.0039909 . . . . . . . . 0.0043 Name\x3d98.456038 3 +14 23889445 MYH7 T TG 11 0.0403355 0.0709 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|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 . . . 0.0002 . splicing . 0.0021151 . . . . . . . . . Name\x3d99.911055 1 +14 23890074 MYH7 G A 2 0.000599042 0.0004 . . . . . . . . . intronic . 0.000461 . . . . . . . . . Name\x3d98.334011 3 +14 23891481 MYH7 C T 2 0.00319489 0.0090 . 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|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0069 synonymous_SNV exonic . 0.0052522 . . . . . . . . 0.0077 Name\x3d99.944357 -5 +14 23891496 MYH7 C T 1 0.000199681 . 3.877 MedGen:CN169374 not_specified Uncertain_significance . . . 5.52e-05 nonsynonymous_SNV exonic . 2.59e-05 D . . . D D . . . Name\x3d99.961235 8 +14 23892819 MYH7 G A 2 0.00259585 0.0003 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|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 . 0.001423 . . . . . . . . . Name\x3d99.935932 -1 +14 23892879 MYH7 C T 1 0.000199681 . . MedGen:CN169374 not_specified Likely_benign . . . 5.52e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . 0.0001 Name\x3d99.952616 5 +14 23892888 MYH7 A G 73 0.376398 0.3260 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.3256 synonymous_SNV exonic . 0.32052 . . Name\x3dOREG0804994|N/A|JUND(var.2)|JASPAR . . . . . 0.3288 Name\x3d99.945404 -2 +14 23892948 MYH7 C A 1 0.000199681 . . . . . . . . 1.84e-05 . intronic . 1.29e-05 . . Name\x3dOREG1721436|N/A|HNF4A|PAZAR . . . . . . Name\x3d98.890238 6 +14 23892950 MYH7 C T 1 0.0507188 0.0007 . MedGen:CN169374 not_specified Benign . . . 0.0006 . intronic . 0.0145664 . . Name\x3dOREG1721436|N/A|HNF4A|PAZAR . . . . . 0.0009 Name\x3d98.890238 2 +14 23894051 MYH7 C T 1 0.000199681 . 7.365 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 3.68e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . D D . . . Name\x3d99.956137 19 +14 23894291 MYH7 C T 9 0.0301518 0.0073 . . . . . . . . . intronic . 0.0030271 . . . . . . . . . Name\x3d97.785330 1 +14 23895083 MYH7 T C 29 0.251997 0.1542 . . . . . . . . . intronic . 0.0230463 . . . . . . . . . Name\x3d97.594066 1 +14 23896823 MYH7 A T 1 0.000199681 . 5.665 . . . . . . 1.844e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . P D . . . Name\x3d99.944014 8 +14 23897077 MYH7 T C 1 0.0329473 0.0005 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0006 synonymous_SNV exonic . 0.0099223 . . . . . . . . 0.0009 Name\x3d99.953995 -3 +14 23897156 MYH7 G A 3 0.00119808 0.0032 . . . . . . . . . intronic . 0.000414 . . . . . . . . . Name\x3d98.087525 7 +14 23898105 MYH7 C A 1 0.000199681 0.0001 . . . . . . . . . intronic . 0.0002305 . . . . . . . . . . 4 +14 23898122 MYH7 G C 2 0.000599042 0.0002 . . . . . . . 0.0007 . intronic . 0.0007827 . . . . . . . . 0.0007 Name\x3d95.095864 3 +14 23898504 MYH7 C T 1 0.000199681 6.488e-05 . 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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 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|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0002 synonymous_SNV exonic . 0.0001617 . . . . . . . . 0.0001 Name\x3d99.944366 13 +14 23898994 MYH7 G A 9 0.15615 0.0788 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0777 synonymous_SNV exonic . 0.0943131 . . . . . . . . 0.0867 Name\x3d99.861634 -3 +14 23899027 MYH7 C T 35 0.0796725 0.1631 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.1570 synonymous_SNV exonic . 0.118517 . . . . . . . . 0.1513 Name\x3d99.919528 -3 +14 23899060 MYH7 G A 19 0.0638978 0.0740 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0775 synonymous_SNV exonic . 0.0701091 . . . . . . . . 0.0795 Name\x3d99.937441 -3 +14 23899725 MYH7 A G 9 0.170527 0.0811 . MedGen:CN169374 not_specified Benign . . . 0.0877 . intronic . 0.097088 . . . . . . . . 0.0886 . 0 +14 23899793 MYH7 G A 8 0.0145767 0.0237 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign . . . 0.0291 synonymous_SNV exonic . 0.0210541 . . . . . . . . 0.0290 Name\x3d99.923626 -3 +14 23900093 MYH7 C T 7 0.0471246 0.0066 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000492689|Promoter . . 0.0096 . intronic . 0.0225288 . . . . . . . . 0.0091 Name\x3d99.498820 3 +14 23900794 MYH7 G A 31 0.263778 0.1551 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign Name\x3dENSR00000492689|Promoter . . 0.1598 synonymous_SNV exonic . 0.18208 . . . . . . 0.0008 0.104 0.1680 Name\x3d99.958007 -2 +14 23901012 MYH7 T C 7 0.00579073 0.0128 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign Name\x3dENSR00000492689|Promoter . . 0.0155 synonymous_SNV exonic . 0.0110477 . . . . . . . . 0.0147 Name\x3d99.929636 -2 +14 23901581 MYH7 G T 1 0.033147 0.0005 . . . . Name\x3dENSR00000492689|Promoter . . . . intronic . 0.0016623 . . . . . . . . . . 1 +14 23901582 MYH7 G C 19 0.061901 0.0740 . . . . Name\x3dENSR00000492689|Promoter . . . . intronic . 0.0017673 . . . . . . . . . . 1 +14 23902269 MYH7 C T 1 0.000998403 0.0016 . . . . Name\x3dENSR00000492689|Promoter . . 0.0020 . intronic . 0.0013777 . . . . . . . . 0.0023 . 3 +14 23902753 MYH7 G A 103 0.520367 0.4776 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign Name\x3dENSR00000492689|Promoter . . 0.4760 synonymous_SNV exonic . 0.485375 . . . . . . . . 0.4841 Name\x3d99.951153 -2 +14 23902966 MYH7 C G 1 0.000199681 . . . . . Name\x3dENSR00000492689|Promoter . . 1.862e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.384884 6 +14 23902974 MYH7 C A 19 0.0615016 0.0742 . . . . Name\x3dENSR00000492689|Promoter . . 0.0787 . intronic . 0.06595 . . . . . . . . 0.0778 Name\x3d98.614317 2 +14 73614748 PSEN1 G A 1 0.000399361 . . MedGen:CN043596|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant Uncertain_significance . . Name\x3dMIMAT0000066|hsa-let-7e-5p|Experimental 9.25e-05 synonymous_SNV exonic . 6.47e-05 . . . . . . . . 0.0001 Name\x3d99.483541 6 +14 73637794 PSEN1 G A 1 0.000998403 0.0051 . . . . . . . 0.0042 . intronic . 0.0027684 . . . . . . . . 0.0052 Name\x3d97.323207 3 +14 73664718 PSEN1 T C 21 0.0189696 0.0520 . . . . Name\x3dENSR00000501807|Enhancer . . 0.0727 . intronic . 0.0361444 . . . . . . . . 0.0523 Name\x3d97.422357 2 +14 73664853 PSEN1 G T 124 0.671526 0.5402 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000501807|Enhancer . . 0.5715 . intronic . 0.58791 . . . . . . . . 0.5613 Name\x3d98.910676 2 +14 73673178 PSEN1 A G 3 0.00559105 0.0228 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 . . . 0.0203 nonsynonymous_SNV exonic . 0.0145406 D . . . B T 0.0688 0.186 0.0187 Name\x3d98.705170 -1 +14 76425507 TGFB3 C G 1 0.000199681 . . . . . Name\x3dENSR00000987039|Enhancer . . 1.84e-05 . UTR3 . 1.29e-05 . . . . . . . . . Name\x3d98.361607 6 +14 76429868 TGFB3 A G 25 0.146166 0.0674 . . . . Name\x3dENSR00000987041|Enhancer . . 0.0774 . intronic . 0.0936146 . . . . . . . . 0.0766 . 1 +14 76432117 TGFB3 GC G 25 0.123203 0.0629 . . . . . . . . . intronic . 0.0127171 . . . . . . . . . Name\x3d95.988896 1 +14 76446886 TGFB3 G A 1 0.000199681 6.481e-05 . MedGen:C3553762,OMIM:614816|MedGen:CN169374|MedGen:CN230736 Loeys-Dietz_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000071002|Promoter . . 0.0002 synonymous_SNV exonic . 0.0001035 . . . . . . 0.0238 0.124 0.0001 Name\x3d99.495395 10 +14 90863452 CALM1 G T 2 0.00519169 0.0021 . . . . Name\x3dENSR00000071950|Promoter . . . . UTR5 . 0.0032273 . . Name\x3dOREG1168103|N/A|TFAP2C|PAZAR,OREG1488045|N/A|EGR1|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1249922|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.928977 3 +14 90863488 CALM1 C CA 2 0.000998403 0.0010 . . . . Name\x3dENSR00000071950|Promoter . . . . UTR5 . 0.0003458 . . Name\x3dOREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1168103|N/A|TFAP2C|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1488045|N/A|EGR1|PAZAR,OREG1249922|N/A|SMARCA4|PAZAR . . . . . 0.0186 Name\x3d97.594244 1 +14 90863489 CALM1 G A,GCA 2 0.000998403 0.0008 . . . . Name\x3dENSR00000071950|Promoter . . . . UTR5 . 0.0003458 . . Name\x3dOREG1249922|N/A|SMARCA4|PAZAR,OREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1168103|N/A|TFAP2C|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1488045|N/A|EGR1|PAZAR . . . . . . Name\x3d97.594244 3 +14 90866346 CALM1 C T 121 0.484425 0.6183 . . . . Name\x3dENSR00000071950|Promoter . . . . intronic . 0.117618 . . Name\x3dOREG1249922|N/A|SMARCA4|PAZAR . . . . . 0.6245 . 0 +14 90866350 CALM1 T C 1 0.000199681 0.0004 . . . . Name\x3dENSR00000071950|Promoter . . . . intronic . 1.29e-05 . . Name\x3dOREG1249922|N/A|SMARCA4|PAZAR . . . . . 0.0003 . 4 +14 90870167 CALM1 G A 2 0.000798722 0.0033 . . . . . . . 0.0037 . intronic . 0.0023868 . . . . . . . . 0.0043 . 0 +14 90870689 CALM1 A G 1 0.000199681 . . . . . . . . 1.877e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 +14 90870740 CALM1 C T 1 0.000199681 0.0008 . MedGen:C3554047,OMIM:614916|MedGen:C4015671,OMIM:616247|MedGen:CN169374|MedGen:CN230736 Ventricular_tachycardia,_catecholaminergic_polymorphic,_4|Long_QT_syndrome_14|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0019 synonymous_SNV exonic . 0.0009638 . . . . . . . . 0.0009 Name\x3d98.773995 -3 +14 90870909 CALM1 T G 3 0.00159744 0.0058 . . . . . . . 0.0067 . intronic . 0.0039327 . . . . . . . . 0.0052 . 4 +15 35083378 ACTC1 A G 2 0.0285543 0.0037 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C2677506,OMIM:612098|MedGen:C2748552,OMIM:612794|MedGen:C3150681,OMIM:613424|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_11|Atrial_septal_defect_5|Dilated_cardiomyopathy_1R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0036 synonymous_SNV exonic . 0.0097088 . . . . . . . . 0.0042 Name\x3d98.720799 -3 +15 35083508 LOC101928174 TCACA T 65 0.244808 0.1316 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . . . ncRNA_intronic . 0.0006404 . . . . . . . . . . 2 +15 35084543 LOC101928174 A C 1 0.000199681 . . . . . Name\x3dENSR00000074836|Promoter . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 3 +15 35084562 LOC101928174 G A 1 0.000199681 6.482e-05 . . . . Name\x3dENSR00000074836|Promoter . . 7.361e-05 . ncRNA_intronic . 4.53e-05 . . . . . . . . 0.0001 . 3 +15 48703130 FBN1 T C 1 0.019369 0.0023 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection Likely_benign . . Name\x3dMIMAT0000086|hsa-miR-29a-3p|Experimental,MIMAT0000100|hsa-miR-29b-3p|Experimental,MIMAT0000681|hsa-miR-29c-3p|Experimental . . UTR3 . 0.001326 . . . . . . . . . Name\x3d99.538168 -2 +15 48703579 FBN1 G A 1 0.000199681 . . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Likely_benign . . . 3.681e-05 . intronic . 4.53e-05 . . . . . . 0.0004 0.046 0.0001 Name\x3d99.589402 1 +15 48712876 FBN1 T G 2 0.0491214 0.0080 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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 . 0.0254719 . . . . . . . . 0.0099 Name\x3d99.084991 -5 +15 48713959 FBN1 A T 1 0.0253594 0.0025 . . . . Name\x3dENSR00000515046|Enhancer . . . . intronic . 0.0015977 . . . . . . . . . Name\x3d97.310398 0 +15 48718045 FBN1 C T 1 0.000199681 . . . . . . . . 1.843e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.790785 3 +15 48718098 FBN1 T C 1 0.000399361 . . . . . . . . 0.0001 . intronic . 9.7e-05 . . . . . . . . 0.0001 Name\x3d97.968503 3 +15 48718120 FBN1 T C 1 0.000399361 . . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d97.972348 3 +15 48719701 FBN1 G T 2 0.0489217 0.0080 . . . . . . . . . intronic . 0.0042496 . . . . . . . . . . -2 +15 48720526 FBN1 G C 169 0.65595 0.7602 . MedGen:CN169374 not_specified Benign . . . 0.7638 . intronic . 0.731129 . . . . . . . . 0.7771 Name\x3d97.687960 -1 +15 48720652 FBN1 C T 2 0.0509185 0.0135 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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 . . . 0.0146 synonymous_SNV exonic . 0.0285443 . . . . . . . . 0.0172 Name\x3d99.778812 -5 +15 48722884 FBN1 A G 2 0.0511182 0.0135 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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 . . . 0.0146 synonymous_SNV exonic . 0.0285507 . . . . . . . . 0.0172 Name\x3d99.680571 -5 +15 48722887 FBN1 A G 1 0.000199681 6.482e-05 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 5.523e-05 synonymous_SNV exonic . 6.47e-05 . . . . . . . . 0.0002 Name\x3d99.680571 3 +15 48725121 FBN1 T G 2 0.000798722 0.0010 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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|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|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0013 synonymous_SNV exonic . 0.0010543 . . . . . . . . 0.0014 Name\x3d99.765798 -1 +15 48725206 FBN1 T A 2 0.0507188 0.0135 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0146 . intronic . 0.0285313 . . . . . . . . 0.0172 Name\x3d98.551345 -1 +15 48726805 FBN1 A C 1 0.000199681 . 4.877 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D T . . . Name\x3d99.793973 3 +15 48729619 FBN1 T G 1 0.000199681 . . . . . . . . . . intronic . 1.29e-05 . . . . . . . . . Name\x3d96.683528 3 +15 48729648 FBN1 T C 200 0.930112 0.8595 . . . . . . . . . intronic . 0.173478 . . . . . . . . 0.8866 Name\x3d95.276548 -1 +15 48729950 FBN1 A G 1 0.000199681 . . . . . . . . 1.862e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d97.050638 3 +15 48736684 FBN1 A T 168 0.620807 0.7442 . . . . . . . . . intronic . 0.141279 . . . . . . . . . . -2 +15 48739082 FBN1 C A 2 0.0425319 0.0136 . . . . . . . . . intronic . 0.0047283 . . . . . . . . . Name\x3d95.058891 -1 +15 48740907 FBN1 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d97.439025 3 +15 48740936 FBN1 G GA 2 0.0425319 0.0136 . MedGen:CN169374 not_specified Benign . . . 0.0157 . intronic . 0.0008085 . . . . . . . . 0.0177 . -2 +15 48744726 FBN1 G A 1 0.000599042 0.0003 . . . . Name\x3dENSR00000515051|Enhancer . . 0.0008 . intronic . 0.0006209 . . . . . . . . 0.0003 Name\x3d97.107235 2 +15 48744908 FBN1 AAGG A 2 0.0405351 0.0082 . . . . Name\x3dENSR00000515051|Enhancer . . 0.0104 . intronic . 0.0007762 . . . . . . . . 0.0102 Name\x3d98.568935,98.510825 0 +15 48748913 FBN1 C T 2 0.00259585 0.0093 . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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 . . . 0.0068 synonymous_SNV exonic . 0.0051875 . . . . . . . . 0.0086 Name\x3d99.778744 -1 +15 48755434 FBN1 A C 1 0.000199681 . 4.356 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B D . . . Name\x3d99.763430 6 +15 48755450 FBN1 T TA 2 0.0477236 0.0084 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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 . . . 0.0104 . intronic . 0.0008538 . . . . . . . . 0.0103 Name\x3d97.977445 -5 +15 48755472 FBN1 G A 28 0.0467252 0.0926 . MedGen:CN169374 not_specified Benign . . . 0.0927 . intronic . 0.0682074 . . . . . . . . 0.0932 Name\x3d97.955257 0 +15 48756163 FBN1 G A 1 0.000199681 . . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN230736|MedGen:CN517202 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0002 synonymous_SNV exonic . 0.0001229 . . . . . . . . 0.0001 Name\x3d99.650673 7 +15 48756199 FBN1 A G 1 0.000199681 . . . . . . . . 5.554e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d99.705529 3 +15 48758132 FBN1 A C 36 0.207268 0.1505 . . . . . . . . . intronic . 0.030323 . . . . . . . . . . -1 +15 48760067 FBN1 G A 2 0.047524 0.0082 . . . . . . . . . intronic . 0.0042367 . . . . . . . . . Name\x3d96.051856 -1 +15 48760087 FBN1 G C 1 0.000199681 . . . . . . . . 1.842e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.605088 3 +15 48760750 FBN1 T C 2 0.0405351 0.0082 . MedGen:CN169374 not_specified Benign . . . 0.0104 . intronic . 0.0233826 . . Name\x3dOREG1754562|N/A|IGF1R|PAZAR,OREG1755146|N/A|IGF1R|PAZAR . . . . . 0.0101 Name\x3d98.100079 0 +15 48760805 FBN1 C T 1 0.000199681 0.0037 . . . . . . . . . intronic . 0.0003428 . . . . . . . . . Name\x3d95.378979 1 +15 48763008 FBN1 A T 15 0.0682907 0.1406 . . . . . . . . . intronic . 0.0169144 . . . . . . . . . . -2 +15 48764709 FBN1 A T 1 0.000199681 . . . . . . . . 1.84e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.753779 3 +15 48764942 FBN1 A G 2 0.110024 0.0194 . . . . . . . . . intronic rs16960981|Skin-reflectance-(Melanin-index)|0.506585|2E-7|PMID:30895295 0.0099999 . . . . . . . . . . -2 +15 48766737 FBN1 T C 1 0.000199681 . 0.242 MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance . . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1416737|N/A|E2F1|PAZAR,OREG1274672|N/A|SMARCA4|PAZAR . B T . . 0.0001 Name\x3d99.724406 5.5 +15 48779200 FBN1 AATAAC A 47 0.301318 0.2470 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +15 48779231 FBN1 GTAAAA ATAAAA,G 47 0.196685 0.1535 . MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374 Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Benign/Likely_benign . . . 0.1299 . intronic . 0.0082017 . . . . . . . . 0.1656 . -4 +15 48779402 FBN1 C T 16 0.196486 0.1556 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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 . . . 0.1510 . intronic . 0.166641 . . . . . . . . 0.1390 Name\x3d98.442579 -5 +15 48779550 FBN1 G A 1 0.000399361 6.48e-05 7.283 Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0014 nonsynonymous_SNV exonic . 0.0006274 D . . . D D . . 0.0015 Name\x3d99.597762 11 +15 48779604 FBN1 A T 1 0.000199681 . 5.592 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.638421 9 +15 48779649 FBN1 T C 1 0.000399361 . . . . . . . . . . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.792642 3 +15 48780504 FBN1 TTAAAGA T 28 0.048722 0.0909 . . . . . . . . . intronic . 0.0137544 . . . . . . . . . Name\x3d96.629521 -1 +15 48780551 FBN1 G C 1 0.000199681 . . . . . . . . 5.52e-05 . intronic . 3.23e-05 . . . . . . . . . Name\x3d98.750919 3 +15 48782072 FBN1 T C 3 0.000599042 0.0006 2.075 MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0006 nonsynonymous_SNV exonic . 0.0004722 T . . . B D . . 0.0003 Name\x3d99.682927 9 +15 48782151 FBN1 G A 1 0.000199681 6.485e-05 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection Likely_benign . . . 3.68e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . 0.0001 Name\x3d99.638291 1 +15 48787360 FBN1 G A 1 0.000199681 0.0001 . . . . . . . 5.538e-05 synonymous_SNV exonic . 5.17e-05 . . . . . . . . . Name\x3d99.718617 3 +15 48787523 FBN1 T C 1 0.00299521 0.0001 . . . . . . . . . intronic . 0.0005763 . . . . . . . . . Name\x3d95.606575 1 +15 48787842 FBN1 TA T 2 0.0197684 0.0023 . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,Orphanet:ORPHA558,SNOMED_CT:19346006 Marfan_syndrome Uncertain_significance . . . . . intronic . 0.0009605 . . . . . . . . . Name\x3d97.169305 -1 +15 48788436 FBN1 G C 1 0.000199681 . . . . . . . . 1.842e-05 . intronic . 7.76e-05 . . . . . . . . . Name\x3d98.104239 3 +15 48789634 FBN1 T C 49 0.378594 0.2528 . MedGen:CN169374 not_specified Benign . . . 0.2643 . intronic . 0.276128 . . . . . . . . 0.2427 Name\x3d97.045016 -1 +15 48797146 FBN1 C T 6 0.0756789 0.0568 . . . . . . . . . intronic . 0.0100257 . . . . . . . . . . -1 +15 48797158 FBN1 T C 1 0.000199681 . . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d95.144336 3 +15 48797192 FBN1 C T 2 0.0221645 0.0023 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0025 . intronic . 0.0071733 . . . . . . . . 0.0026 . -2 +15 48797307 FBN1 A G 18 0.296925 0.1581 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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|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|Cardiovascular_phenotype|not_provided Benign . . . 0.1539 synonymous_SNV exonic . 0.195398 . . . . . . . . 0.1420 Name\x3d99.739965 -5 +15 48807637 FBN1 C T 214 1 1 . MedGen:CN169374 not_specified Benign . . Name\x3dMIMAT0000092|hsa-miR-92a-3p|Experimental 1 nonsynonymous_SNV exonic . 0.938235 . . . . . . . . . Name\x3d99.659792 1.5 +15 48818303 FBN1 C A 1 0.000199681 0.0003 . . . . . . . 0.0001 . intronic . 0.0001229 . . . . . . . . 0.0002 . 2 +15 48826356 FBN1 A G 1 0.000599042 0.0012 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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|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|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0013 synonymous_SNV exonic . 0.0008538 . . . . . . . . 0.0008 Name\x3d99.718571 -1 +15 48826428 FBN1 A G 1 0.00579073 . . . . . . . . . . intronic . 0.0088032 . . . . . . . . . Name\x3d99.078443 1 +15 48888508 FBN1 G A 1 0.000399361 0.0025 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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|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|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 synonymous_SNV exonic . 0.0006404 . . Name\x3dOREG1274680|N/A|SMARCA4|PAZAR . . . . . 0.0012 Name\x3d99.698052 6 +15 48888610 FBN1 T C 11 0.0151757 0.0194 . . . . . . . 0.0218 . intronic . 0.0164746 . . Name\x3dOREG1274680|N/A|SMARCA4|PAZAR . . . . . 0.0235 Name\x3d98.871569 0 +15 48892427 FBN1 T A 1 0.000199681 . 4.225 . . . . . . 3.685e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D D . . . Name\x3d99.646845 6 +15 48892504 FBN1 T C 1 0.00439297 0.0089 . . . . . . . . . intronic . 0.0015136 . . . . . . . . . Name\x3d97.646387 1 +15 48902965 FBN1 G A 1 0.000798722 0.0038 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0009782|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA284963,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|MedGen:CN517202 Ectopia_lentis|Connective_tissue_disorder|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0063 synonymous_SNV exonic . 0.0040232 . . . . . . . . 0.0070 Name\x3d99.720767 -1 +15 63335907 TPM1 C G 1 0.00419329 0.0001 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000077719|Promoter . . 0.0038 synonymous_SNV exonic . 0.0008215 . . . . . . . . . Name\x3d99.896019 4 +15 63335910 TPM1 G A 1 0.000199681 0.0001 . MedGen:CN169374 not_specified Likely_benign Name\x3dENSR00000077719|Promoter . . 0.0012 synonymous_SNV exonic . 0.0001552 . . . . . . . . . Name\x3d99.896019 4 +15 63336099 TPM1 C G 17 0.028754 0.0799 . . . . Name\x3dENSR00000077719|Promoter . . . . intronic . 0.0668895 . . . . . . . . . Name\x3d99.921063 2 +15 63340705 LOC100128979 C T 16 0.210863 0.1184 . . . . Name\x3dENSR00000077719|Promoter . . 0.2085 . ncRNA_exonic . 0.0403552 . . Name\x3dOREG1725385|N/A|HNF4A|PAZAR,OREG1271416|N/A|SMARCA4|PAZAR,OREG1676422|N/A|GATA2|PAZAR,OREG1852947|N/A|RB1|PAZAR,OREG1902832|N/A|STAT1|PAZAR,OREG1190035|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.912126 1 +15 63349132 TPM1 T A 30 0.126198 0.1325 . . . . . . . . . intronic . 0.0246827 . . . . . . . . 0.1316 Name\x3d98.389911 1 +15 63351687 TPM1 A G 160 0.861422 0.8018 . . . . . . . . . intronic . 0.161246 . . . . . . . . . Name\x3d98.656370 1 +15 63351736 TPM1 G A 1 0.00119808 0.0001 . . . . . . . 0.0004 . intronic . 0.0006274 . . . . . . . . 0.0007 Name\x3d99.215568 3 +15 63351840 TPM1 C A 130 0.705671 0.6539 . 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 . . . 0.6555 synonymous_SNV exonic . 0.669267 . . . . . . . . 0.6458 Name\x3d99.739207 -1 +15 63351873 TPM1 T C 15 0.0241613 0.0706 . 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 . . . 0.0779 synonymous_SNV exonic . 0.0524314 . . . . . . . . 0.0713 Name\x3d99.803976 -1 +15 63353451 TPM1 A G 2 0.00259585 0.0005 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000993718|Enhancer . . 0.0006 synonymous_SNV exonic . 0.0010673 . . . . . . . . 0.0005 Name\x3d99.871204 4 +15 63353565 TPM1 A G 1 0.000199681 . . . . . Name\x3dENSR00000993718|Enhancer . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d99.832509 6 +15 63354009 TPM1 G C 4 0.00898562 0.0120 . . . . Name\x3dENSR00000993718|Enhancer . . 0.0139 . intronic . 0.0119727 . . . . . . . . 0.0128 Name\x3d99.525360 2 +15 63356184 TPM1 C T 1 0.000798722 0.0001 . . . . . . . . . intronic . 0.0002305 . . Name\x3dOREG1271417|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.603191 4 +15 63356237 TPM1 C T 3 0.000599042 0.0003 . . . . . . . 0.0005 . intronic . 0.0003105 . . Name\x3dOREG1271417|N/A|SMARCA4|PAZAR . . . . . 0.0005 Name\x3d99.839659 8 +15 63358033 TPM1 T C 1 0.0151757 0.0017 . . . . . . Name\x3dMIMAT0000076|hsa-miR-21-5p|Experimental . . intronic . 0.0042646 . . . . . . . . . . 1 +15 63362256 TPM1 A G 1 0.000599042 0.0006 . . . . Name\x3dENSR00000993720|Enhancer . . . . UTR3 . 0.000194 . . . . . . . . . Name\x3d98.998416 4 +15 63363401 TPM1 C CATTTT,CATTTTGTTTT 1 0.127396 0.5105 . . . . . . . 0.5274 . UTR3 . 0.0115328 . . . . . . . . . Name\x3d98.277992 1 +15 63363402 TPM1 G A 72 0.372005 0.0097 . MedGen:CN169374 not_specified Benign . . . 0.0074 . UTR3 . 0.0122185 . . . . . . . . . Name\x3d98.277992 1 +15 66679649 MAP2K1 T TC 19 0.147165 0.0757 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|not_specified Benign/Likely_benign Name\x3dENSR00000078166|Promoter . . 0.1089 . UTR5 . 0.0004851 . . Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR . . . . . 0.0874 Name\x3d99.371543 -1 +15 66679798 MAP2K1 C G 2 0.00758786 0.0252 . . . . Name\x3dENSR00000078166|Promoter . . 0.0159 . intronic . 0.0048835 . . Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR . . . . . 0.0140 Name\x3d99.844827 1 +15 66679819 MAP2K1 G C 21 0.0361422 0.0862 . . . . Name\x3dENSR00000078166|Promoter . . . . intronic . 0.0581681 . . Name\x3dOREG1548518|N/A|ETS1|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1231486|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.893784 3 +15 66679850 MAP2K1 TG T 21 0.0361422 0.0864 . . . . Name\x3dENSR00000078166|Promoter . . . . intronic . 0.0107961 . . Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR . . . . . . Name\x3d99.859840 1 +15 66679867 MAP2K1 C T 1 0.000199681 . . . . . Name\x3dENSR00000078166|Promoter . . . . intronic . 3.84e-05 . . Name\x3dOREG1231486|N/A|SMARCA4|PAZAR,OREG1548518|N/A|ETS1|PAZAR,OREG1818390|N/A|RBL2|PAZAR,OREG1262003|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.861026 5 +15 66727597 MAP2K1 G C 69 0.270767 0.3215 . MedGen:CN169374 not_specified Benign . . . 0.3226 . intronic . 0.310293 . . . . . . . . 0.3353 Name\x3d97.091206 0 +15 66729250 MAP2K1 C T 6 0.0191693 0.0200 . MedGen:CN169374 not_specified Benign . . . 0.0283 . intronic . 0.0263386 . . . . . . . . 0.0236 . -2 +15 66735551 MAP2K1 C T 193 0.855232 0.9127 . . . . . . . . . intronic . 0.177346 . . . . . . . . . Name\x3d96.869498 1 +15 66736922 MAP2K1 G A 2 0.000998403 0.0045 . . . . . . . . . intronic . 0.0004851 . . . . . . . . . Name\x3d98.245217 1 +15 66777345 MAP2K1 G A 2 0.00539137 0.0182 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign . . . 0.0165 synonymous_SNV exonic . 0.0113582 . . . . . . . . 0.0207 Name\x3d99.772167 -1 +15 66779537 MAP2K1 A C 1 0.000199681 6.482e-05 . . . . . . . 0.0001 . intronic . 8.41e-05 . . . . . . . . . Name\x3d99.552630 3 +15 66779698 MAP2K1 C T 17 0.0900559 0.0903 . . . . . . . . . intronic . 0.0164746 . . . . . . . . 0.0893 . -1 +15 66782048 MAP2K1 C T 17 0.0892572 0.0899 . 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 . . . 0.0860 . intronic . 0.0828838 . . . . . . 0.0003 0.008 0.0854 Name\x3d99.701726 -4 +15 66782108 SNAPC5 CTATT C 1 0.00119808 0.0029 . 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 . . . 0.0031 . UTR3 . 0.0018434 . . . . . . . . 0.0029 Name\x3d98.356641,99.640818 -3 +15 73614834 HCN4 T C 202 0.859625 0.9396 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.9273 synonymous_SNV exonic . 0.88158 . . . . . . . . 0.9344 Name\x3d99.917057 -5 +15 73614974 HCN4 G A 1 0.000199681 0.0001 4.878 . . . . . . . nonsynonymous_SNV exonic . 5.17e-05 D . . . D D . . . Name\x3d99.885622 6 +15 73615084 HCN4 G A 1 0.000599042 0.0030 3.325 MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0065 nonsynonymous_SNV exonic . 0.0013519 D . . . B D . . 0.0009 Name\x3d99.866784 0 +15 73615097 HCN4 T C 5 0.0081869 0.0119 -3.599 MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign . . . 0.0322 nonsynonymous_SNV exonic . 0.008247 T . . . B T . . 0.0126 Name\x3d99.847514 -7.5 +15 73615146 HCN4 G A 1 0.0071885 0.0003 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign . . . 0.0025 synonymous_SNV exonic . 0.0016106 . . . . . . . . 0.0004 Name\x3d99.872069 -7 +15 73615531 HCN4 G A 2 0.000399361 . 1.536 MedGen:CN169374 not_specified Uncertain_significance . . . 7.257e-05 nonsynonymous_SNV exonic . 5.82e-05 D . . . B T . . . Name\x3d99.616832 3 +15 73615786 HCN4 G C 2 0.00339457 0.0121 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|MedGen:CN517202 Left_ventricular_noncompaction|Sick_sinus_syndrome_2,_autosomal_dominant|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0115 nonsynonymous_SNV exonic . 0.0077554 T . . . B D . . 0.0132 Name\x3d99.668182 -9 +15 73615878 HCN4 C T 8 0.0275559 0.0483 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign . . . 0.0471 synonymous_SNV exonic . 0.0447148 . . . . . . . . 0.0488 Name\x3d99.712799 -9 +15 73615940 HCN4 G A 1 0.000199681 . . . . . . . . 3.76e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.611743 3 +15 73616252 HCN4 C T 1 0.000199681 . 3.312 MedGen:C2751083,OMIM:613123 Brugada_syndrome_8 Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 5.82e-05 D . . . D D . . . Name\x3d99.919174 6 +15 73616635 HCN4 T C 202 0.772963 0.9348 . MedGen:CN169374 not_specified Benign . . . 0.9241 . intronic . 0.0002458 . . . . . . . . 0.9314 . -2 +15 73617239 HCN4 C T 2 0.00379393 0.0131 . . . . . . . . . intronic . 0.0020634 . . . . . . . . . Name\x3d97.538347 -1 +15 73617250 HCN4 C T 4 0.00778754 0.0218 . . . . . . . 0.0216 . intronic . 0.0146052 . . . . . . . . 0.0216 . -2 +15 73617804 HCN4 G T 2 0.00339457 0.0119 . MedGen:CN169374 not_specified Benign . . . 0.0096 . intronic . 0.0071539 . . . . . . . . 0.0145 Name\x3d98.527667 -1 +15 73617851 HCN4 C T 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 2 +15 73621933 HCN4 C T 1 0.000199681 . 6.335 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 2.59e-05 D . . . D D . . . Name\x3d99.938418 9 +15 73621946 HCN4 G A 21 0.053115 0.1063 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0928 synonymous_SNV exonic . 0.0839058 . . . . . . . . 0.0910 Name\x3d99.933404 -5 +15 73622049 HCN4 C T 1 0.000199681 0.0001 . MedGen:CN230736 Cardiovascular_phenotype Likely_benign . . . 3.683e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d99.925392 1 +15 73622061 HCN4 G A 1 0.000199681 . . MedGen:C2751083,OMIM:613123|MedGen:CN169374 Brugada_syndrome_8|not_specified Benign/Likely_benign . . . 3.71e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d99.905001 1 +15 73624463 HCN4 C T 1 0.000599042 6.482e-05 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN517202 Brugada_syndrome_8|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 1.842e-05 . intronic . 0.0001682 . . . . . . . . . Name\x3d99.371777 5 +15 73660154 HCN4 T C 1 0.000199681 0.0018 0.242 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000520949|Promoter . . . nonsynonymous_SNV exonic . 0.0001035 T . Name\x3dOREG1506778|N/A|EGR1|PAZAR . B T . . . Name\x3d99.942508 12.5 +15 73660505 HCN4 C T 24 0.0249601 0.0593 2.191 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000520949|Promoter . . 0.1281 nonsynonymous_SNV exonic . 0.0002717 T . Name\x3dOREG1506778|N/A|EGR1|PAZAR . B D . . 0.0508 Name\x3d99.766523 -3 +15 73660576 HCN4 G C 2 0.00359425 0.0063 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000520949|Promoter . . 0.0087 synonymous_SNV exonic . 0.0027684 . . Name\x3dOREG1506778|N/A|EGR1|PAZAR . . . . . 0.0047 Name\x3d99.852221 -5 +16 30913382 CTF1 C T 1 0.000599042 . . . . . . . . . . intronic . 3.88e-05 . . Name\x3dOREG1256361|N/A|SMARCA4|PAZAR,OREG1226096|N/A|SMARCA4|PAZAR . . . . . . Name\x3d95.437069 4 +16 30913405 CTF1 C T 1 0.000199681 . 2.493 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1226096|N/A|SMARCA4|PAZAR,OREG1256361|N/A|SMARCA4|PAZAR . B T . . . Name\x3d97.573393 7.5 +16 30913845 CTF1 C G 1 0.00119808 0.0016 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0087 synonymous_SNV exonic . 0.0008797 . . Name\x3dOREG1256361|N/A|SMARCA4|PAZAR,OREG1226096|N/A|SMARCA4|PAZAR,OREG0075153|N/A|TFAP2A|JASPAR,OREG1174768|N/A|TFAP2C|PAZAR . . . . . . Name\x3d97.544957 8 +17 8192158 RANGRF C T 1 0.000599042 0.0005 1.830 MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Uncertain_significance Name\x3dENSR00000548740|Promoter . . 0.0008 nonsynonymous_SNV exonic . 0.0005498 T . Name\x3dOREG1792302|N/A|RBL2|PAZAR,OREG1806025|N/A|RBL2|PAZAR . B T . . 0.0013 Name\x3d95.632641 4.5 +17 8192922 na C T 11 0.141573 0.0430 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000548740|Promoter . . 0.0426 . UTR3 . 0.0920816 . . . . . . . . 0.0433 . -1 +17 8192970 RANGRF G A 2 0.00778754 0.0187 . . . . Name\x3dENSR00000548740|Promoter . . 0.0194 . UTR3 . 0.0131952 . . . . . . 0.0002 0.036 0.0197 . -1 +17 8192987 RANGRF C A 1 0.000199681 . . . . . Name\x3dENSR00000548740|Promoter . . 1.867e-05 . UTR3 . 1.29e-05 . . . . . . . . . . 3 +17 37821770 TCAP C T 3 0.0301518 0.0545 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000093970|Promoter . . 0.0537 . intronic . 0.041112 . . . . . . . . 0.0561 Name\x3d98.546347 2 +17 37821927 TCAP G C 4 0.00379393 0.0020 . . . . Name\x3dENSR00000093970|Promoter . . 0.0039 . intronic . 0.0029495 . . . . . . . . 0.0029 Name\x3d98.386216 8 +17 37822174 TCAP C T 2 0.00838658 0.0039 6.733 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C4225408,OMIM:607487|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1N|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign Name\x3dENSR00000093970|Promoter . Name\x3dMIMAT0004804|hsa-miR-615-5p|Experimental,MIMAT0019737|hsa-miR-4664-5p|Experimental,MIMAT0004694|hsa-miR-342-5p|Experimental 0.0039 nonsynonymous_SNV exonic . 0.0168885 D . Name\x3dOREG1492801|N/A|EGR1|PAZAR . D D . . 0.0042 Name\x3d99.323358 6 +17 37822311 TCAP A C 149 0.54972 0.7039 . 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 Name\x3dENSR00000093970|Promoter . . 0.7260 synonymous_SNV exonic . 0.66428 . . Name\x3dOREG1492801|N/A|EGR1|PAZAR . . . . . 0.7122 Name\x3d99.114223 3 +17 39911975 JUP G T 1 0.00159744 0.0026 . MedGen:CN169374 not_specified Benign . . . 0.0029 . UTR3 . 0.0029042 . . . . . . 0.0001 0.018 0.0035 Name\x3d96.265799 3 +17 39912145 JUP T A 155 0.58726 0.7420 1.242 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.7257 nonsynonymous_SNV exonic . 0.657482 T . . . B T . . 0.7391 Name\x3d99.303397 0.5 +17 39912581 JUP A G 160 0.636581 0.7696 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +17 39912590 JUP G A 3 0.000798722 0.0015 . . . . . . . . . intronic . 0.00146 . . . . . . . . . . 6 +17 39913645 JUP T C 155 0.717252 0.7529 . MedGen:CN169374 not_specified Benign . . . 0.7367 . intronic . 0.705741 . . . . . . . . 0.7456 . 0 +17 39913826 JUP G A 1 0.00279553 0.0004 . . . . . . . 0.0007 . intronic . 0.0012742 . . . . . . . . 0.0001 . 2 +17 39914070 JUP G T 155 0.638978 0.7493 . MedGen:CN169374 not_specified Benign . . . 0.7328 . intronic . 0.662385 . . . . . . . . 0.7430 . 0 +17 39915057 JUP T C 1 0.00239617 0.0112 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0063 synonymous_SNV exonic . 0.0046118 . . . . . . . . 0.0042 Name\x3d99.242843 -3 +17 39919367 JUP G A 1 0.00119808 6.483e-05 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0002 synonymous_SNV exonic . 0.0004269 . . . . . . . . . Name\x3d98.788548 3 +17 39923614 JUP A G 177 0.744209 0.8138 . MedGen:CN169374 not_specified Benign . . . 0.8079 . intronic . 0.740928 . . . . . . . . 0.8084 . 0 +17 39925713 JUP C T 14 0.0239617 0.0675 7.586 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0620 nonsynonymous_SNV exonic rs41283425|Balding-type-1||8E-10|PMID:30595370 0.0426062 T . . . D D . . 0.0581 Name\x3d99.062306 0 +17 39925925 JUP A G 174 0.715655 0.7559 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Naxos_disease|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.7592 synonymous_SNV exonic . 0.691272 . . . . . . . . 0.7552 Name\x3d99.243610 -1 +17 48243312 SGCA C A 4 0.00459265 0.0114 . . . . Name\x3dENSR00000095614|Promoter . . . . upstream . 0.0015653 . . . . . . . . . Name\x3d99.622953 2 +17 48243323 SGCA C T 1 0.00139776 . . . . . Name\x3dENSR00000095614|Promoter . . . . upstream . 0.0003074 . . . . . . . . . Name\x3d98.510978 4 +17 48243461 SGCA G A 12 0.0283546 0.0706 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign/Likely_benign Name\x3dENSR00000095614|Promoter . . 0.0692 . intronic . 0.0529941 . . . . . . . . 0.0627 Name\x3d99.541115 2 +17 48243504 SGCA C T 214 0.988618 0.9997 . . . . Name\x3dENSR00000095614|Promoter . . 0.9998 . intronic . 0.944212 . . . . . . 0.0002 . 0.9997 Name\x3d95.967132 2 +17 48244683 SGCA G C 3 0.0081869 0.0089 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000095614|Promoter . . 0.0084 . intronic . 0.0088615 . . Name\x3dOREG1505010|N/A|EGR1|PAZAR . . . . . 0.0067 Name\x3d99.114083 9 +17 48244932 SGCA G A 1 0.00159744 0.0014 . MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2D|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0019 . intronic . 0.0013713 . . . . . . 0.0001 . 0.0014 Name\x3d99.298689 3 +17 48245269 SGCA C A 19 0.122404 0.1498 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000558161|Promoter . . 0.1396 . intronic . 0.139222 . . . . . . . . 0.1379 Name\x3d95.568663 2 +17 48245324 SGCA G A 1 0.000798722 0.0001 6.470 MedGen:CN169374 not_specified Benign Name\x3dENSR00000558161|Promoter . . 0.0011 nonsynonymous_SNV exonic . 0.0008861 D . . . D D . . 0.0005 Name\x3d99.886478 10 +17 48245770 SGCA C A 1 0.00139776 0.0004 2.670 MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2D|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0021 nonsynonymous_SNV exonic . 0.0005563 D . . . P T . . 0.0007 Name\x3d99.891253 3 +17 48247689 SGCA C T 7 0.0786741 0.0399 . MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2D|not_specified|not_provided Benign/Likely_benign . . . 0.0370 synonymous_SNV exonic . 0.0452517 . . . . . . . . 0.0416 Name\x3d99.783359 1 +17 48247996 SGCA C T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . 0.0001 0.008 . Name\x3d99.668316 5 +17 48248083 SGCA C A 1 0.00179712 0.0151 . . . . . . . . . intronic . 0.0018442 . . . . . . . . 0.0057 . 0 +17 48252804 SGCA T C 207 0.921925 0.9597 . MedGen:CN169374 not_specified Benign . . . 0.9630 . UTR3 . 0.934264 . . . . . . . . 0.9589 Name\x3d99.248115 1 +17 68172326 KCNJ2 C T 24 0.153954 0.1121 . MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED_CT:422348008|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:C3468561,Orphanet:ORPHA334|MedGen:CN169374|MedGen:CN230736 Andersen_Tawil_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|not_specified|Cardiovascular_phenotype Benign . . . 0.1167 synonymous_SNV exonic . 0.128841 . . . . . . . . 0.1186 Name\x3d99.932274 -3 +17 78078341 GAA T G 1 0.00279553 0.0053 . Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|MeSH:D030342,MedGen:C0950123|MedGen:C0017919,Orphanet:ORPHA79201,SNOMED_CT:29633007|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C4016981|MedGen:CN517202 Muscular_Diseases|Inborn_genetic_diseases|Glycogen_storage_disease|Glycogen_storage_disease,_type_II|Glycogen_storage_disease_II,_adult_form|not_provided Pathogenic . . . 0.0049 . intronic . 0.0035316 . . . . . . . . 0.0057 Name\x3d98.906401 1 +17 78078656 GAA G A 1 0.0115815 0.0348 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 Benign/Likely_benign,_other . . . 0.0309 nonsynonymous_SNV exonic . 0.0213969 T . . . D T . . 0.0315 Name\x3d99.767635 -1 +17 78078709 GAA T C 166 0.714457 0.7537 . 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 . . . 0.7670 synonymous_SNV exonic . 0.0031112 . . . . . . . . 0.7490 Name\x3d99.591056 0 +17 78078832 GAA G A 1 0.00958466 0.0060 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0041 synonymous_SNV exonic . 0.0050129 . . Name\x3dOREG0405492|N/A|ESR2|JASPAR . . . . . 0.0038 Name\x3d99.651471 2 +17 78079481 GAA C G 165 0.602436 0.7403 . . . . . . . . . intronic . 0.131945 . . . . . . . . . . -1 +17 78079509 GAA T G 165 0.605631 0.7396 . MedGen:CN169374 not_specified Benign . . . 0.7462 . intronic . 0.664513 . . . . . . . . 0.7352 Name\x3d96.713393 -1 +17 78079544 GAA C G 165 0.602835 0.7403 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7469 . intronic . 0.664603 . . . . . . . . 0.7384 Name\x3d99.486055 0 +17 78079597 GAA A G 165 0.600839 0.7401 -1.974 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7469 nonsynonymous_SNV exonic . 0.670573 T . . . B T . . 0.7383 Name\x3d99.528089 1.5 +17 78079643 GAA C T 52 0.10603 0.2145 . 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 . . . 0.2309 synonymous_SNV exonic . 0.178484 . . . . . . . . 0.22 Name\x3d99.623896 -1 +17 78079669 GAA G A 165 0.602436 0.7399 1.133 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 . . . 0.7474 nonsynonymous_SNV exonic . 0.667863 T . . . B T . . 0.7381 Name\x3d99.557421 1.5 +17 78081307 GAA C T 20 0.0870607 0.0702 . MedGen:CN169374 not_specified Benign . . . 0.0651 . intronic . 0.0680328 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.0719 . -1 +17 78081515 GAA G A 4 0.00239617 0.0093 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.0105 synonymous_SNV exonic . 0.0066881 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.0120 Name\x3d99.375628 0 +17 78081526 GAA AGCGGCGG AGCAGCGGGCGGCGG 164 0.592851 0.7305 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7455 . intronic . 0.0061254 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . . Name\x3d98.919469 0 +17 78081551 GAA T C 164 0.601038 0.7302 . MedGen:CN169374 not_specified Benign . . . 0.7468 . intronic . 0.586629 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.7315 Name\x3d97.040998 0 +17 78081655 GAA G A 1 0.000399361 0.0016 . 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 Conflicting_interpretations_of_pathogenicity . . . 0.0015 synonymous_SNV exonic . 0.0010543 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.0015 Name\x3d99.505217 2 +17 78081661 GAA A T 20 0.110224 0.0702 . 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 . . . 0.0680 synonymous_SNV exonic . 0.0723212 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.0719 Name\x3d99.695166 0 +17 78081707 GAA G A 165 0.604433 0.7398 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7979 . intronic . 0.6232 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.7545 Name\x3d97.689936 0 +17 78081786 GAA C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . . Name\x3d95.352252 4 +17 78082221 GAA C T 2 0.00519169 0.0139 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0150 . intronic . 0.0107631 . . Name\x3dOREG1492584|N/A|EGR1|PAZAR . . . . . 0.0166 Name\x3d99.017227 0 +17 78082504 GAA G A 164 0.602835 0.7394 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7487 synonymous_SNV exonic . 0.668859 . . . . . . . . 0.7380 Name\x3d99.416633 -1 +17 78083726 GAA A G 165 0.711661 0.7527 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7638 . intronic . 0.720638 . . Name\x3dOREG1940686|N/A|TP53|PAZAR . . . . . 0.7486 Name\x3d98.719453 1 +17 78083791 GAA C T 20 0.0982428 0.0701 . 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 . . . 0.0654 synonymous_SNV exonic . 0.0713251 . . Name\x3dOREG1492585|N/A|EGR1|PAZAR . . . . . 0.0715 Name\x3d99.727705 0 +17 78084459 GAA T C 2 0.000399361 . . . . . . . . . . intronic . 7.68e-05 . . Name\x3dOREG1492585|N/A|EGR1|PAZAR . . . . . . Name\x3d96.923924 4 +17 78084507 GAA G C 164 0.603035 0.7392 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7469 . intronic . 0.661958 . . Name\x3dOREG1492585|N/A|EGR1|PAZAR . . . . . 0.7379 Name\x3d98.704587 0 +17 78084688 GAA C A 164 0.599241 0.7392 . MedGen:CN169374 not_specified Benign . . . 0.7468 . intronic . 0.661828 . . Name\x3dOREG1492585|N/A|EGR1|PAZAR . . . . . 0.7380 Name\x3d99.468177 1 +17 78084727 GAA G A 1 0.00279553 0.0060 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0040 . intronic . 0.0028913 . . Name\x3dOREG1492585|N/A|EGR1|PAZAR . . . . . 0.0040 Name\x3d99.076528 2 +17 78084769 GAA G A 59 0.159545 0.2710 . 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 . . . 0.2746 synonymous_SNV exonic . 0.232131 . . . . . . . . 0.2816 Name\x3d99.582472 1 +17 78084887 GAA G A 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d96.953601 3 +17 78085710 GAA T G 1 0.00339457 . . . . . . . . . . intronic . 0.0006531 . . . . . . . . . Name\x3d97.193653 1 +17 78085911 GAA G A 5 0.063099 0.0660 . 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 . . . 0.0621 . intronic . 0.0576707 . . . . . . . . 0.0628 Name\x3d98.074921 -1 +17 78086531 GAA G A 9 0.0778754 0.0471 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.0557 . intronic . 0.0001811 . . . . . . . . 0.0313 Name\x3d96.553209 -1 +17 78086846 GAA A G 166 0.715056 0.7527 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7731 . intronic . 0.67818 . . . . . . . . 0.7513 Name\x3d98.071406 0 +17 78086869 GAA A C 4 0.0463259 . . . . . . . . 4.308e-05 . intronic . 0.0015588 . . . . . . . . . Name\x3d97.662183 -1 +17 78086892 GAA C T 6 0.0638978 0.0701 . . . . . . . . . intronic . 0.058975 . . . . . . . . . Name\x3d98.195822 -1 +17 78086895 GAA A G 6 0.0621006 0.0704 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002 Glycogen_storage_disease,_type_II Benign . . . . . intronic . 0.0567466 . . . . . . . . . Name\x3d98.195822 -1 +17 78086953 GAA G A 67 0.228035 0.3130 . . . . . . . . . intronic . 0.265868 . . . . . . . . . Name\x3d98.287196 -1 +17 78087041 GAA G A 9 0.0780751 0.0473 2.321 .|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Acid_alpha-glucosidase,_allele_4|Glycogen_storage_disease,_type_II|not_specified|not_provided Conflicting_interpretations_of_pathogenicity,_other . . . 0.0714 nonsynonymous_SNV exonic . 0.0494172 T . . . B T . . 0.0348 Name\x3d99.667593 0.5 +17 78087109 GAA A G 71 0.241613 0.2965 . 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 . . . 0.3797 synonymous_SNV exonic . 0.244932 . . . . . . . . 0.2793 Name\x3d99.724578 -1 +17 78090928 GAA G A 166 0.789337 0.7549 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7679 . intronic . 0.73446 . . . . . . . . 0.7530 Name\x3d97.377457 0 +17 78090932 GAA T C 14 0.207069 0.1240 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Likely_benign . . . 0.1188 . intronic . 0.146719 . . . . . . . . 0.1056 . -2 +17 78091359 GAA C G 2 0.00259585 0.0068 . . . . . . . 0.0070 . intronic . 0.0055433 . . . . . . . . 0.0060 Name\x3d97.061299 1 +17 78091405 GAA G A 165 0.711861 0.7531 -0.394 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.7655 nonsynonymous_SNV exonic . 0.720676 T . . . B T . . 0.7499 Name\x3d99.422464 1.5 +17 78091929 GAA C T 1 0.000199681 . . . . . . . . . . intronic . 9.06e-05 . . . . . . . . . Name\x3d97.729624 3 +17 78092063 GAA G A 151 0.509385 0.6282 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign . . . 0.6470 synonymous_SNV exonic . 0.574527 . . . . . . . . 0.6427 Name\x3d99.688943 1 +17 78092195 GAA G A 1 0.00199681 0.0080 . MedGen:CN517202 not_provided Likely_benign . . . 0.0048 . intronic . 0.0033699 . . . . . . . . 0.0045 Name\x3d96.359759 1 +17 78092211 GAA G T 2 0.00219649 0.0077 . MedGen:CN517202 not_provided Likely_benign . . . . . intronic . 0.0014101 . . . . . . . . . Name\x3d96.412140 1 +17 78093011 GAA G A 1 0.0145767 0.0056 . . . . . . . . . intronic . 0.0028137 . . . . . . . . 0.0057 Name\x3d96.270375 -1 +17 78093221 GAA G A 22 0.120008 0.0776 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002 Glycogen_storage_disease,_type_II Likely_benign . . . . . UTR3 . 0.0159248 . . . . . . . . . . -1 +18 3067195 MYOM1 C T 1 0.000199681 . . . . . . . . . . UTR3 . 3.84e-05 . . . . . . . . . . 2 +18 3067278 MYOM1 A G 97 0.594449 0.4698 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.5434 synonymous_SNV exonic . 0.486417 . . . . . . . . 0.4664 . -6 +18 3067599 MYOM1 A G 26 0.0694888 0.0750 . . . . . . . 0.0808 . intronic . 0.0701737 . . . . . . . . 0.0816 . -2 +18 3075503 MYOM1 C CAAA 212 0.992612 0.9925 . . . . . . . 0.9945 . intronic . 0.0978771 . . . . . . . . 0.9933 . -2 +18 3075504 MYOM1 G A 1 0.00339457 . . . . . . . . . . intronic . 0.000207 . . . . . . . . . . 0 +18 3075554 MYOM1 T C 21 0.193291 0.1270 . . . . . . . . . intronic . 0.030226 . . . . . . . . 0.1216 . -2 +18 3075712 MYOM1 C A 98 0.622804 0.4633 . MedGen:CN169374 not_specified Benign . . . 0.5032 . intronic . 0.484994 . . . . . . . . 0.4632 . -2 +18 3075746 MYOM1 G A 31 0.183506 0.1955 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2221 synonymous_SNV exonic . 0.157812 . . . . . . . . 0.1697 Name\x3d96.460710 -5 +18 3075778 MYOM1 A C 31 0.183506 0.1957 . . . . . . . 0.2104 . intronic . 0.132586 . . . . . . . . 0.1614 . -2 +18 3075872 MYOM1 C G 31 0.174121 0.1953 . . . . . . . . . intronic . 0.168396 . . . . . . . . . . -2 +18 3083922 MYOM1 A C 4 0.00279553 0.0031 . . . . . . . 0.0106 . intronic . 0.0026649 . . . . . . . . 0.0044 . -2 +18 3084152 MYOM1 C T 200 0.863019 0.9300 . . . . . . . . . intronic . 0.900607 . . . . . . . . . . -2 +18 3085165 MYOM1 C T 2 0.000399361 6.656e-05 . . . . . . . 0.0002 . intronic . 9.7e-05 . . . . . . . . . . 2 +18 3086065 MYOM1 C T 10 0.0521166 0.0806 5.971 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0794 nonsynonymous_SNV exonic . 0.0722306 T . . . D T . . 0.0716 Name\x3d95.549078 -2 +18 3089123 MYOM1 CTATTT C 10 0.0696885 0.0804 . . . . . . . 0.0849 . intronic . 0.0022574 . . . . . . . . 0.0724 . -2 +18 3089522 MYOM1 G T 173 0.800319 0.8161 . MedGen:CN169374 not_specified Benign . . . 0.8034 . intronic . 0.0032535 . . . . . . . . 0.7970 . -2 +18 3089677 MYOM1 A G 3 0.00279553 0.0068 . . . . . . . . . intronic . 0.000925 . . . . . . . . . . 4 +18 3090661 MYOM1 C T 1 0.000199681 . 6.060 . . . . . . 3.682e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . D T . . . Name\x3d97.503262 6 +18 3094131 MYOM1 A G 13 0.01877 0.0181 . . . . . . . 0.0201 . intronic . 0.0216039 . . . . . . . . 0.0215 . -2 +18 3100051 MYOM1 T C 205 0.913339 0.9178 . . . . . . . . . intronic . 0.0335024 . . . . . . . . . . -2 +18 3100429 MYOM1 G A 109 0.348043 0.4369 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.4727 . intronic . 0.407026 . . Name\x3dOREG1519899|N/A|EGR1|PAZAR . . . . . 0.4470 . -5 +18 3102499 MYOM1 C T 1 0.000399361 0.0002 6.258 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0005 nonsynonymous_SNV exonic . 0.0002329 D . . . D D . . 0.0005 . 10 +18 3102674 MYOM1 A G 1 0.000199681 6.48e-05 . . . . . . . 7.446e-05 . intronic . 5.82e-05 . . . . . . . . . . 2 +18 3112230 MYOM1 A C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +18 3112231 MYOM1 G C 135 0.596046 0.5835 . . . . . . . . . intronic . 0.117793 . . . . . . . . . . -2 +18 3112252 MYOM1 C A 39 0.0810703 0.1792 . . . . . . . 0.1865 . intronic . 0.135807 . . . . . . . . 0.1805 . -2 +18 3120060 MYOM1 G A 178 0.852436 0.7970 . . . . . . . . . intronic . 0.808552 . . Name\x3dOREG1684796|N/A|GATA3|PAZAR,OREG1628683|N/A|FOS|PAZAR . . . . . . . -1 +18 3126632 MYOM1 C T 146 0.813698 0.6995 . . . . . . . . . intronic . 0.140567 . . Name\x3dOREG1107687|N/A|TP63|JASPAR . . . . . . . -1 +18 3126811 MYOM1 A G 32 0.254393 0.1416 0.079 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1533 nonsynonymous_SNV exonic . 0.184202 T . . . B T . . 0.1415 . -4.5 +18 3129535 MYOM1 C T 3 0.00199681 0.0040 . . . . Name\x3dENSR00000567718|Promoter . . 0.0052 . intronic . 0.0030983 . . Name\x3dOREG1278593|N/A|SMARCA4|PAZAR,OREG1246787|N/A|SMARCA4|PAZAR . . . . . 0.0042 Name\x3d97.658426 7 +18 3134610 MYOM1 A G 34 0.238019 0.1491 . . . . . . . 0.1591 . intronic . 0.180418 . . . . . . . . 0.1403 . -2 +18 3134826 MYOM1 A C 3 0.00599042 0.0152 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign . . . 0.0141 . intronic . 0.0103362 . . . . . . . 0.002 0.0136 . -6 +18 3135644 MYOM1 C T 1 0.00239617 0.0126 7.909 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign . . . 0.0062 nonsynonymous_SNV exonic . 0.0052457 T . . . D T . . 0.0039 . -3 +18 3142040 MYOM1 G A 2 0.000399361 . 7.299 . . . . . . 3.692e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . D D . . . Name\x3d95.579271 9 +18 3164385 MYOM1 C T 54 0.16873 0.1897 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2444 synonymous_SNV exonic . 0.182617 . . . . . . . . 0.2072 . -6 +18 3168816 MYOM1 G A 45 0.282149 0.2756 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.2619 synonymous_SNV exonic . 0.258082 . . . . . . 0.0006 0.042 0.2648 . -6 +18 3173873 MYOM1 G A 60 0.315895 0.3229 . . . . . . . . . intronic . 0.0601674 . . . . . . . . 0.3240 . -2 +18 3173964 MYOM1 G A 60 0.316094 0.3235 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.3110 synonymous_SNV exonic . 0.29834 . . . . . . . . 0.3157 . -6 +18 3174018 MYOM1 C T 40 0.192292 0.2670 . . . . . . . 0.2474 . intronic . 0.221084 . . . . . . . . 0.2582 . -2 +18 3174056 MYOM1 C A 60 0.315695 0.3220 . . . . . . . . . intronic . 0.0595529 . . . . . . . . 0.3240 . -2 +18 3174064 MYOM1 G T 40 0.191893 0.2671 . . . . . . . . . intronic . 0.0391198 . . . . . . . . 0.2652 . -2 +18 3174076 MYOM1 A AAC 40 0.233427 0.2683 . . . . . . . 0.2491 . intronic . 0.0141913 . . . . . . . . 0.2591 . -2 +18 3174084 MYOM1 C CAT 20 0.0810703 0.0548 . . . . . . . 0.0617 . intronic . 0.0020051 . . . . . . . . 0.0564 . -2 +18 3174238 MYOM1 G A 7 0.00958466 0.0248 . . . . . . . 0.0321 . intronic . 0.0211834 . . . . . . . . 0.0269 . -2 +18 3176017 MYOM1 C T 39 0.191693 0.2668 . . . . . . . 0.2505 . intronic . 0.212591 . . . . . . . . 0.2556 . -2 +18 3176040 MYOM1 C G 138 0.757188 0.7317 -1.049 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.7034 nonsynonymous_SNV exonic . 0.72391 T . . . B T 0.9992 0.75 0.7156 . -3.5 +18 3176063 MYOM1 C T 59 0.273163 0.3222 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.3062 synonymous_SNV exonic . 0.282008 . . . . . . . . 0.3116 Name\x3d95.189371 -5 +18 3176190 MYOM1 A AACACACACAT 20 0.0808706 . . . . . . . . . . intronic . 0.0155602 . . . . . . . . . . -2 +18 3188715 MYOM1 T C 16 0.0898562 0.0465 . . . . . . . 0.0944 . intronic . 0.0493655 . . . . . . . . 0.0573 . -2 +18 3188778 MYOM1 C T 2 0.00219649 0.0051 5.491 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0060 nonsynonymous_SNV exonic . 0.0040103 T . . . P D . . 0.0056 . 1 +18 3188857 MYOM1 A G 16 0.0894569 0.0466 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0574 synonymous_SNV exonic . 0.0124901 . . . . . . . . 0.0589 . -6 +18 3188873 MYOM1 G A 16 0.0716853 0.0463 0.500 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0571 nonsynonymous_SNV exonic . 0.055562 T . . . B T . . 0.0586 . -4.5 +18 3188927 MYOM1 G A 2 0.00379393 0.0005 -0.419 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign . . . 0.0011 nonsynonymous_SNV exonic . 0.0021669 T . . . P T . . 0.0008 . -2.5 +18 3188976 MYOM1 A G 67 0.443291 0.4435 2.095 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.4159 nonsynonymous_SNV exonic . 0.429069 T . . . D T . . 0.4153 . -6 +18 3214918 MYOM1 G C 34 0.286142 0.2878 . MedGen:CN169374 not_specified Benign . . . 0.2858 . intronic . 0.264169 . . . . . . . . 0.2615 . -2 +18 3215004 MYOM1 G A 1 0.000199681 . 1.311 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . P D . . . . 2 +18 3215030 MYOM1 C A 9 0.0730831 0.0661 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0653 synonymous_SNV exonic . 0.063311 . . . . . . . . 0.0565 . -6 +18 3215083 MYOM1 T C 1 0.00259585 0.0125 2.576 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign . . . 0.0057 nonsynonymous_SNV exonic . 0.0045924 T . . . B D . . 0.0025 Name\x3d95.661735 -5 +18 3215131 MYOM1 G T 2 0.013778 0.0169 . 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 . 0.0162676 . . . . . . . . 0.0127 Name\x3d95.172521 -5 +18 3215156 MYOM1 C G 11 0.128994 0.0948 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0988 synonymous_SNV exonic . 0.0951669 . . . . . . . . 0.0858 . -6 +18 3215158 MYOM1 C G 11 0.127995 0.0948 1.149 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0993 nonsynonymous_SNV exonic . 0.0956003 T . . . B T . . 0.0859 . -4.5 +18 3215230 MYOM1 C T 55 0.335663 0.2311 . MedGen:CN169374 not_specified Benign . . . 0.2693 . UTR5 . 0.251064 . . . . . . . . 0.2245 . -2 +18 9102713 NDUFV2 G A 1 0.000199681 . . . . . Name\x3dENSR00000100502|Promoter . . 7.759e-05 . UTR5 . 1.94e-05 . . Name\x3dOREG1879398|N/A|STAT1|PAZAR,OREG1480278|N/A|E2F4|PAZAR,OREG1490087|N/A|EGR1|PAZAR,OREG1850725|N/A|RB1|PAZAR,OREG1608484|N/A|FOXP1|PAZAR,OREG1251554|N/A|SMARCA4|PAZAR,OREG1543500|N/A|ETS1|PAZAR . . . . . . Name\x3d99.548319 5 +18 9102738 NDUFV2 C T 1 0.000199681 . . . . . Name\x3dENSR00000100502|Promoter . . 6.982e-05 . UTR5 . 2.59e-05 . . Name\x3dOREG0253837|N/A|YY1|JASPAR,OREG1608484|N/A|FOXP1|PAZAR,OREG1850725|N/A|RB1|PAZAR,OREG1251554|N/A|SMARCA4|PAZAR,OREG1490087|N/A|EGR1|PAZAR,OREG1879398|N/A|STAT1|PAZAR . . . . . . Name\x3d99.516286 5 +18 9117867 NDUFV2 T C 179 0.778954 0.8148 0.840 MedGen:C1838867,OMIM:556500|MedGen:C2936907,Orphanet:ORPHA2609|MedGen:CN169374|MedGen:CN517202 Parkinson_disease,_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified|not_provided Benign Name\x3dENSR00000568994|Promoter . . 0.8135 nonsynonymous_SNV exonic . 0.792913 T . Name\x3dOREG1251555|N/A|SMARCA4|PAZAR,OREG1221377|N/A|SMARCA4|PAZAR . B T . . 0.8194 Name\x3d99.503277 2.5 +18 9119489 NDUFV2 A T 19 0.0750799 0.1004 . MedGen:C2936907,Orphanet:ORPHA2609|MedGen:CN169374|MedGen:CN517202 Mitochondrial_complex_I_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1014 synonymous_SNV exonic . 0.0861632 . . . . . . . . 0.1129 Name\x3d99.705047 -1 +18 9124799 na CT C 142 0.630391 0.5877 . . . . . . . . . ncRNA_intronic . 0.0001153 . . . . . . . . . Name\x3d96.637622 -1 +18 9124909 NDUFV2 C G 1 0.000199681 6.5e-05 5.999 . . . . . . 3.697e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . D D . . . Name\x3d99.724504 6 +18 9126856 NDUFV2 G T 1 0.000199681 . 14.347 . . . . . . 1.844e-05 stopgain exonic . 1.29e-05 . . . . . . . . . Name\x3d99.694918 11 +18 9134344 na T C 1 0.00339457 0.0104 . . . . . . . . . ncRNA_intronic . 0.0016559 . . . . . . . . . Name\x3d96.248345 -1 +18 9134354 na C G 19 0.0754792 0.1003 . MedGen:C2936907,Orphanet:ORPHA2609 Mitochondrial_complex_I_deficiency Likely_benign . . . . . ncRNA_intronic . 0.0194693 . . . . . . . . . . -2 +18 19358240 MIB1 G C 6 0.0071885 0.0341 . . . . . . . . . intronic . 0.005595 . . Name\x3dOREG1580803|N/A|FOXA1|PAZAR,OREG1639411|N/A|FOXA1|PAZAR . . . . . . Name\x3d96.156903 0 +18 19418264 MIB1 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +18 19423003 MIB1 T C 20 0.0872604 0.0748 . . . . . . . . . intronic . 0.0152973 . . . . . . . . . . -2 +18 19427096 MIB1 A G 20 0.0878594 0.0754 . MedGen:C3554496,OMIM:615092|MedGen:CN169374 Left_ventricular_noncompaction_7|not_specified Benign . . . 0.0932 . intronic . 0.0780779 . . . . . . . . 0.0848 Name\x3d98.554109 -5 +18 19429173 MIB1 C T 1 0.000199681 . 7.064 . . . . . . 1.852e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d99.031782 6 +18 19444661 MIB1 A C 20 0.0856629 0.0730 . . . . . . . 0.0795 . UTR3 . 0.0740159 . . Name\x3dOREG1256525|N/A|SMARCA4|PAZAR . . . . . 0.0815 Name\x3d98.699221 0 +18 28647935 DSC2 T A 1 0.00519169 0.0042 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005 Arrhythmogenic_right_ventricular_cardiomyopathy Likely_benign . . . 0.0032 . UTR3 . 0.0039197 . . . . . . . . . . 0 +18 28647996 DSC2 T C 1 0.000199681 . . . . . . . Name\x3dMIMAT0004683|hsa-miR-362-3p|Experimental . synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.850691 6 +18 28647999 DSC2 T TTC 2 0.00359425 0.0169 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0120 frameshift_insertion exonic . 0.0003234 . . . . . . . . 0.0134 Name\x3d99.850691 17 +18 28648200 DSC2 C T 18 0.0199681 0.0586 . . . . . . . 0.0538 . intronic . 0.0369788 . . . . . . . . 0.0607 Name\x3d99.659321 1 +18 28648975 DSC2 C T 9 0.0275559 0.0525 0.324 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0551 nonsynonymous_SNV exonic . 0.0472762 T . . . B T . . 0.0452 Name\x3d99.720223 -1.5 +18 28649042 DSC2 T C 15 0.196486 0.0801 -1.683 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . Name\x3dMIMAT0017982|hsa-miR-3605-3p|Experimental,MIMAT0006789|hsa-miR-1468-5p|Experimental,MIMAT0004601|hsa-miR-145-3p|Experimental 0.0834 nonsynonymous_SNV exonic . 0.118148 T . . . B T . . 0.0837 Name\x3d99.813745 -0.5 +18 28649144 DSC2 G T 2 0.00579073 0.0232 . . . . . . . 0.0187 . intronic . 0.0138873 . . . . . . . . 0.0186 . 0 +18 28649166 DSC2 A G 10 0.0611022 0.0486 . MedGen:CN169374 not_specified Benign . . . 0.0553 . intronic . 0.0619397 . . . . . . . . 0.0498 Name\x3d96.810692 1 +18 28650748 DSC2 A C 1 0.000599042 0.0023 0.742 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0022 nonsynonymous_SNV exonic . 0.0012678 T . . . B T . . 0.0013 Name\x3d99.944164 12.5 +18 28654750 DSC2 G A 1 0.00219649 0.0005 4.177 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . Name\x3dMIMAT0003339|hsa-miR-421|Experimental 0.0013 nonsynonymous_SNV exonic . 0.0011578 T . . . P D . . 0.0013 Name\x3d99.717268 12 +18 28660379 DSC2 G A 1 0.000199681 0.0001 . . . . . . . . . intronic . 2.59e-05 . . . . . . . . . . 4 +18 28666526 DSC2 T TTAA 214 0.996006 1 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified Benign/Likely_benign . . . 1 . intronic . 0.0292752 . . . . . . . . 1 Name\x3d97.856104 -3 +18 28666646 DSC2 G A 1 0.000199681 . 5.339 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN517202 Cardiomyopathy|not_provided Conflicting_interpretations_of_pathogenicity . . . 7.366e-05 nonsynonymous_SNV exonic . 6.47e-05 T . . . D D . . 0.0001 Name\x3d99.782558 12 +18 28669387 DSC2 C T 1 0.000399361 . . . . . . . . 1.842e-05 . intronic . 3.23e-05 . . . . . . . . . Name\x3d97.065063 5 +18 28669470 DSC2 C A 1 0.000199681 . 2.982 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d99.933617 6.5 +18 28670946 DSC2 G C 1 0.00439297 0.0169 . . . . . . . 0.0111 . intronic . 0.0086868 . . . . . . . . 0.0124 Name\x3d98.264198 1 +18 28671068 DSC2 C T 1 0.000599042 . 0.476 . . . . . . 5.582e-05 nonsynonymous_SNV exonic . 8.41e-05 T . . . B T . . . Name\x3d99.837421 4.5 +18 28671130 DSC2 A G 1 0.000199681 . . . . . . . . 1.923e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.249109 5 +18 28672067 DSC2 T C 3 0.00379393 0.0152 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0127 synonymous_SNV exonic . 0.0087386 . . . . . . . . 0.0117 Name\x3d99.904930 9 +18 28673565 DSC2 T C 25 0.123602 0.1166 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1084 synonymous_SNV exonic . 0.113071 . . . . . . . . 0.1210 Name\x3d99.531283 -3 +18 29078121 DSG2 G C 1 0.00738818 0.0042 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign Name\x3dENSR00000101963|Promoter . . . . UTR5 . 0.0041494 . . Name\x3dOREG1184072|N/A|TFAP2C|PAZAR,OREG1505543|N/A|EGR1|PAZAR . . . . . . Name\x3d99.573500 3 +18 29078160 DSG2 G C 1 0.000399361 0.0027 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Uncertain_significance Name\x3dENSR00000101963|Promoter . . . . UTR5 . 0.0074535 . . Name\x3dOREG1184072|N/A|TFAP2C|PAZAR,OREG1505543|N/A|EGR1|PAZAR . . . . . . Name\x3d99.775761 5 +18 29078333 DSG2 C G 7 0.0189696 0.0166 . . . . Name\x3dENSR00000101963|Promoter . . . . intronic . 0.003053 . . Name\x3dOREG1184072|N/A|TFAP2C|PAZAR,OREG1505543|N/A|EGR1|PAZAR . . . . . . Name\x3d99.189136 3 +18 29098253 DSG2 G T 1 0.000199681 0.0003 . . . . . . . 0.0002 . intronic . 0.0001552 . . . . . . . . . Name\x3d98.937025 5 +18 29098254 DSG2 A G 1 0.000199681 0.0003 . . . . . . . 0.0002 . intronic . 0.0001552 . . . . . . . . . Name\x3d98.937025 5 +18 29098323 DSG2 G A 73 0.369209 0.3890 . . . . . . . . . intronic . 0.0734855 . . . . . . . . . Name\x3d98.669675 1 +18 29098345 DSG2 C T 43 0.219848 0.2725 . . . . . . . . . intronic . 0.0511766 . . . . . . . . . Name\x3d97.295206 1 +18 29099850 DSG2 G A 1 0.000199681 0.0021 5.774 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1857777,OMIM:610193|MedGen:C2752072,OMIM:612877|MedGen:C4053736,OMIM:604772|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|Dilated_cardiomyopathy_1BB|Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity,_risk_factor . . . 0.0028 nonsynonymous_SNV exonic . 0.0019275 T . . . D D . . 0.0035 Name\x3d99.897715 6 +18 29101010 DSG2 G A 1 0.000599042 0.0006 . . . . . . . . . intronic . 0.0001552 . . . . . . . . 0.0013 Name\x3d96.253135 3 +18 29101230 DSG2 T A 31 0.141374 0.1115 . MedGen:CN169374 not_specified Benign . . . 0.1141 . intronic . 0.0143012 . . . . . . . . 0.0699 . 0 +18 29104564 DSG2 C A 44 0.211462 0.265 . MedGen:CN169374 not_specified Benign . . . 0.2530 . intronic . 0.244977 . . . . . . . . 0.2609 Name\x3d97.102655 1 +18 29104632 DSG2 A T 1 0.000399361 0.0002 . . . . . . . 0.0001 . intronic . 0.0001035 . . . . . . . . 0.0002 Name\x3d97.648853 5 +18 29104698 DSG2 C T 74 0.526558 0.3800 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.3679 synonymous_SNV exonic . 0.408766 . . . . . . . . 0.3787 Name\x3d99.858351 -1 +18 29104714 DSG2 A G 23 0.0323482 0.0937 3.997 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0895 nonsynonymous_SNV exonic . 0.0683626 T . . . D D . . 0.0859 Name\x3d99.893970 2 +18 29104878 DSG2 G A 44 0.216254 0.2658 . MedGen:CN169374 not_specified Benign . . . 0.2558 . intronic . 0.247856 . . . . . . . . 0.2614 Name\x3d97.570463 1 +18 29116462 DSG2 T C 33 0.14357 0.1162 . . . . . . . . . intronic . 0.0221407 . . . . . . . . . Name\x3d98.719724 1 +18 29122618 DSG2 G A 14 0.0259585 0.0845 1.194 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0723 nonsynonymous_SNV exonic . 0.0534728 T . . . P T . . 0.0777 Name\x3d99.730255 0.5 +18 29122799 DSG2 G A 41 0.240016 0.2606 2.152 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.2549 nonsynonymous_SNV exonic . 0.256601 T . . . B T . . 0.2540 Name\x3d99.929106 0.5 +18 29125854 DSG2 A G 29 0.197484 0.1089 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.1085 synonymous_SNV exonic . 0.12745 . . . . . . . . 0.1076 Name\x3d99.924682 -1 +18 29126108 DSG2 T G 4 0.00319489 0.0042 3.890 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0048 nonsynonymous_SNV exonic . 0.0034023 T . . . P D . . 0.0050 Name\x3d99.805216 15 +18 29126592 DSG2 C T 1 0.0103834 0.0044 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . Name\x3dMIMAT0000690|hsa-miR-296-5p|Experimental 0.0052 synonymous_SNV exonic . 0.0057826 . . . . . . . . 0.0040 Name\x3d99.707654 -2 +18 29126670 DSG2 T C 74 0.542931 0.3816 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.3694 synonymous_SNV exonic . 0.419658 . . . . . . . . 0.3777 Name\x3d99.903203 -1 +18 29171787 TTR C T 1 0.000399361 . . . . . Name\x3dENSR00001016941|TF_binding_site . . . . UTR5 . 7.68e-05 . . Name\x3dOREG1631307|N/A|FOXA1|PAZAR,OREG1572593|N/A|FOXA1|PAZAR,OREG1167690|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.855012 7 +18 29172865 TTR G A 9 0.0233626 0.0818 -0.088 .|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 TRANSTHYRETIN_POLYMORPHISM|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0698 nonsynonymous_SNV exonic . 0.0509825 T . . . B T . . 0.0780 Name\x3d99.333449 -1.5 +18 29178513 TTR G C 10 0.0660942 0.0441 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign . . . 0.0347 . intronic . 0.0510472 . . . . . . . . 0.0383 Name\x3d99.128424 -3 +18 32335915 DTNA A G 19 0.0479233 0.0868 . MedGen:CN169374 not_specified Benign . . . 0.0846 . intronic . 0.0624701 . . . . . . . . 0.0780 Name\x3d98.984495 1 +18 32374062 DTNA G A 2 0.00139776 0.0083 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1858725,OMIM:604169|MedGen:CN169374|MedGen:CN517202 Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Left_ventricular_noncompaction_1|not_specified|not_provided Benign/Likely_benign . . . 0.0069 synonymous_SNV exonic . 0.004793 . . . . . . . . 0.0087 Name\x3d99.731206 -1 +18 32386101 DTNA C A 23 0.152356 0.1279 . . . . . . . . . intronic . 0.0229945 . . . . . . . . . . 0 +18 32386125 DTNA T C 35 0.1248 0.1175 . . . . . . . . . intronic . 0.023305 . . . . . . . . 0.1116 Name\x3d99.065509 1 +18 32386340 DTNA T C 23 0.152356 0.1280 . . . . . . . . . intronic . 0.0232274 . . . . . . . . . . 0 +18 32398330 DTNA G C 1 0.000199681 . . . . . Name\x3dENSR00001017152|Promoter . . 2.162e-05 . UTR5 . 1.29e-05 . . . . . . . . . Name\x3d99.354172 6 +18 32400909 DTNA AC A 22 0.114617 0.1284 . . . . . . . 0.1095 . intronic . 0.0029172 . . . . . . . . 0.1147 . 0 +18 32407495 DTNA G A 2 0.000399361 0.0010 . . . . . . . . . intronic . 0.00011 . . . . . . . . . Name\x3d98.909511 3 +18 32408892 DTNA A G 3 0.00758786 0.0147 . . . . . . . . . intronic . 0.0019405 . . . . . . . . . Name\x3d98.448154 1 +18 32408900 DTNA T C 63 0.229633 0.2631 . . . . . . . . . intronic . 0.0092208 . . . . . . . . . Name\x3d98.448154 1 +18 32408968 DTNA C A 1 0.000599042 0.0016 . . . . . . . 0.0013 . intronic . 0.0013389 . . . . . . . . 0.0011 Name\x3d99.654894 3 +18 32418186 DTNA T A 63 0.204073 0.2630 . . . . . . . 0.2568 . intronic . 0.224053 . . Name\x3dOREG1590898|N/A|FOXA1|PAZAR . . . . . 0.2615 Name\x3d99.501621 2 +18 32418189 DTNA A G 2 0.0361422 0.0003 . . . . . . . . . intronic . 0.001824 . . Name\x3dOREG1590898|N/A|FOXA1|PAZAR . . . . . 0.0003 Name\x3d99.501621 2 +18 32418634 DTNA T A 20 0.0553115 0.1276 . . . . . . . . . intronic . 0.0184668 . . . . . . . . . Name\x3d99.578210 1 +18 32418771 DTNA A C 1 0.000199681 . 2.223 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D T . . . Name\x3d99.652691 5 +18 32444040 DTNA G A 77 0.29373 0.3523 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374 Left_ventricular_noncompaction_cardiomyopathy|not_specified Benign . . . 0.4047 . intronic . 0.28933 . . . . . . . . 0.3304 Name\x3d97.749129 -3 +18 32455379 DTNA T C 30 0.128195 0.1410 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000572779|Enhancer . . 0.1214 . intronic . 0.121732 . . . . . . . . 0.1264 Name\x3d99.035438 2 +18 32459584 DTNA C G 1 0.000199681 . 3.167 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d99.609253 8 +18 32459697 DTNA G A 3 0.00559105 0.0189 . 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 . . . 0.0100 . intronic . 0.0074255 . . . . . . . . 0.0105 Name\x3d96.677582 -7 +18 32459704 DTNA A G 53 0.262181 0.2115 . . . . . . . 0.2213 . intronic . 0.221679 . . . . . . . . 0.2241 Name\x3d95.039333 1 +18 32470291 DTNA G A 48 0.266973 0.1985 2.442 MedGen:CN169374 not_specified Benign . . . 0.2558 nonsynonymous_SNV exonic . 0.0590484 . . . . . . . . . Name\x3d99.706037 2.5 +18 32470459 DTNA C T 45 0.155551 0.1925 . . . . . . . . . UTR3 . 0.0304136 . . . . . . . . . Name\x3d98.999299 1 +18 33935432 FHOD3 G A 1 0.000399361 0.0004 . . . . . . . . . intronic . 0.0003458 . . . . . . . . . . 2 +18 33952806 FHOD3 C A 1 0.000199681 6.482e-05 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +18 34081849 FHOD3 A G 77 0.225439 0.4393 . . . . . . . 0.4256 . intronic . 0.267855 . . . . . . . . 0.4057 . -2 +18 34092327 FHOD3 G C 15 0.0934505 0.0653 . . . . . . . . . intronic . 0.0167462 . . . . . . . . . . -2 +18 34156497 FHOD3 A G 1 0.0660942 0.0051 0.448 . . . . . . 0.0051 nonsynonymous_SNV exonic . 0.0300449 T . . . B T . . 0.0043 . -0.5 +18 34182800 FHOD3 A G 73 0.257188 0.3024 . . . . . . . . . intronic . 0.0562606 . . . . . . . . . . -2 +18 34191954 FHOD3 G A 1 0.000199681 . 3.056 . . . . . . . nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . . 3.5 +18 34205415 FHOD3 T C 30 0.128195 0.1407 . . . . . . . . . intronic . 0.0266491 . . . . . . . . . . -2 +18 34205551 FHOD3 C T 14 0.0872604 0.0556 2.410 . . . . . . 0.0596 synonymous_SNV exonic . 0.0643135 . . . . . . . . 0.0604 Name\x3d95.820949 -1 +18 34232543 FHOD3 G A 7 0.0165735 0.0255 -0.091 . . . . . . 0.0378 nonsynonymous_SNV exonic . 0.0063971 . . . . . . . . . . -0.5 +18 34232610 FHOD3 C T 57 0.319489 0.2828 1.357 . . . . . . 0.3151 nonsynonymous_SNV exonic . 0.0853482 . . . . . . . . . . 0.5 +18 34232657 FHOD3 G A 38 0.0702875 0.1714 -0.089 . . . . . . 0.1381 nonsynonymous_SNV exonic . 0.0329427 . . . . . . . . . . -0.5 +18 34232952 FHOD3 T C 56 0.3125 0.2815 . . . . . . . . . intronic . 0.302021 . . . . . . . . . . -1 +18 34233231 FHOD3 C T 103 0.571086 0.4989 . . . . . . . . . intronic . 0.524474 . . Name\x3dOREG1859776|N/A|RUNX1|PAZAR . . . . . . . -1 +18 34233356 FHOD3 C G 1 0.00299521 . 2.577 . . . . . . . nonsynonymous_SNV exonic . 0.0001682 . . Name\x3dOREG1859776|N/A|RUNX1|PAZAR . . . . . . . 2.5 +18 34238093 FHOD3 A C 1 0.000199681 . 1.407 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B D . . . . 2 +18 34238217 FHOD3 G A 1 0.00299521 . . . . . . . . . . intronic . 0.0008837 . . . . . . . . . . 0 +18 34261559 FHOD3 T A 100 0.460264 0.4880 . . . . . . . 0.5024 . intronic . 0.449315 . . . . . . . . 0.4265 . 0 +18 34261581 FHOD3 AG A 145 0.63099 0.6529 . . . . . . . 0.6622 . intronic . 0.0184344 . . . . . . . . 0.6421 . -2 +18 34273111 FHOD3 C G 12 0.0107827 0.0340 . . . . Name\x3dENSR00000573257|Promoter . . . . intronic . 0.0045989 . . Name\x3dOREG1510214|N/A|EGR1|PAZAR . . . . . . Name\x3d97.211657 1 +18 34273149 FHOD3 A C 1 0.000399361 0.0018 . . . . Name\x3dENSR00000573257|Promoter . . 0.0028 . intronic . 0.0013389 . . Name\x3dOREG1510214|N/A|EGR1|PAZAR . . . . . 0.0013 Name\x3d98.127833 3 +18 34273279 FHOD3 C G 44 0.0902556 0.1758 1.318 . . . Name\x3dENSR00000573257|Promoter . . 0.1792 nonsynonymous_SNV exonic . 0.136745 T . Name\x3dOREG1510214|N/A|EGR1|PAZAR . P T . . 0.1810 . 1.5 +18 34273440 FHOD3 C T 103 0.476238 0.4874 . . . . Name\x3dENSR00000573257|Promoter . . . . intronic . 0.0927543 . . Name\x3dOREG1510214|N/A|EGR1|PAZAR . . . . . . . 0 +18 34289142 FHOD3 A G 11 0.014976 0.0325 -1.504 . . . . . . 0.0389 nonsynonymous_SNV exonic . 0.027891 T . . . B T . . 0.0335 . -0.5 +18 34289245 FHOD3 C T 1 0.000199681 6.483e-05 . . . . . . . 0.0002 synonymous_SNV exonic . 9.06e-05 . . . . . . . . . Name\x3d95.843120 3 +18 34289285 FHOD3 G T 3 0.00579073 0.0219 4.122 . . . . . . 0.0195 nonsynonymous_SNV exonic rs61735998|Resting-heart-rate|0.97629|2E-6|PMID:29769521 0.0141137 T . . . B D . . 0.0236 Name\x3d95.391942 -1 +18 34289364 FHOD3 G A 44 0.0760783 0.1756 . . . . . . . 0.1808 . intronic . 0.12721 . . . . . . . . 0.1782 . -2 +18 34297753 FHOD3 C T 70 0.419329 0.3785 . . . . . . . 0.3667 . intronic . 0.377253 . . Name\x3dOREG1269680|N/A|SMARCA4|PAZAR . . . . . 0.3933 . -1 +18 34298542 FHOD3 G A 1 0.00379393 0.0017 3.308 . . . . . . 0.0018 nonsynonymous_SNV exonic . 0.0023932 T . Name\x3dOREG1269680|N/A|SMARCA4|PAZAR . P T . . 0.0023 Name\x3d95.805976 3.5 +18 34298732 FHOD3 G C 65 0.395367 0.3393 . . . . Name\x3dENSR00001017391|Enhancer . . . . intronic . 0.068893 . . Name\x3dOREG1269680|N/A|SMARCA4|PAZAR . . . . . . . 1 +18 34298737 FHOD3 G A 1 0.000199681 . . . . . Name\x3dENSR00001017391|Enhancer . . . . intronic . 3.84e-05 . . Name\x3dOREG1269680|N/A|SMARCA4|PAZAR . . . . . . . 4 +18 34310668 FHOD3 C T 64 0.319489 0.3375 . . . . . . . 0.3199 synonymous_SNV exonic . 0.33768 . . . . . . . . 0.3427 . -1 +18 34322621 FHOD3 C A 1 0.000199681 0.0007 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 0 +18 34322877 FHOD3 G A 2 0.00139776 0.0036 . . . . . . . . . intronic . 0.0004981 . . . . . . . . . . 0 +18 34324091 FHOD3 G A 64 0.376198 0.3175 3.145 . . . . . . 0.3022 nonsynonymous_SNV exonic . 0.336212 T . . . B T . . 0.3263 Name\x3d95.058529 1.5 +18 34324190 FHOD3 C T 63 0.302117 0.3168 . . . . . . . 0.3018 . intronic . 0.313269 . . . . . . . . 0.3251 . -1 +18 34335047 FHOD3 C T 1 0.000798722 . . . . . . . . 0.0003 . intronic . 0.0004398 . . Name\x3dOREG1269681|N/A|SMARCA4|PAZAR . . . . . 0.0002 . 1 +18 34340773 FHOD3 T C 1 0.000199681 6.483e-05 . . . . . . . 0.0001 . intronic . 4.53e-05 . . . . . . . . 0.0002 . 2 +18 34349434 FHOD3 C T 1 0.000399361 0.0012 . . . . . . . 0.0008 . intronic . 0.0005369 . . . . . . . . 0.0006 . 0 +19 16591464 CALR3 G A 160 0.650559 0.7046 . MedGen:C3151266|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.7092 synonymous_SNV exonic . 0.69243 . . . . . . . . 0.7043 Name\x3d99.478238 -2 +19 16593198 CALR3 A G 55 0.175319 0.0005 . . . . . . . . . intronic . 0.0001537 . . . . . . . . . . 0 +19 16593203 CALR3 A G 105 0.43131 0.6979 . . . . . . . . . intronic . 0.238359 . . . . . . . . . . 0 +19 16593213 CALR3 AAAAC A 55 0.175319 . . . . . . . . . . intronic . 0.0056791 . . . . . . . . . . 0 +19 16593318 CALR3 C T 1 0.00539137 0.0203 . MedGen:C3151266|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|Cardiovascular_phenotype|not_provided Benign . . . 0.0159 synonymous_SNV exonic . 0.0122637 . . . . . . . . 0.0167 Name\x3d98.999780 -3 +19 16593415 CALR3 G A 160 0.660144 0.7044 . . . . . . . 0.7095 . intronic . 0.693367 . . . . . . . . 0.7048 . 1 +19 16593573 CALR3 G A 33 0.144569 0.1677 . MedGen:C3151266|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.1664 synonymous_SNV exonic . 0.146156 . . . . . . . . 0.1692 Name\x3d99.802942 -3 +19 16594967 CALR3 A G 160 0.659744 0.6998 . . . . . . . 0.7082 . intronic . 0.003758 . . . . . . . . 0.7026 . 0 +19 16594979 CALR3 C T 162 0.692492 0.6959 . . . . . . . . . intronic . 0.0001294 . . . . . . . . . . 0 +19 16594989 CALR3 C T 111 0.510583 0.0021 . . . . . . . . . intronic . 0.0002305 . . . . . . . . . . 0 +19 16601154 CALR3 T C 159 0.603035 0.6990 . . . . . . . 0.7033 . intronic . 0.651324 . . . . . . . . 0.6966 . 0 +19 16601168 CALR3 G A 29 0.114018 0.1466 . MedGen:C3151266|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_provided Benign . . . 0.1379 . intronic . 0.121493 . . . . . . . . 0.1415 . -4 +19 16601194 CALR3 C T 159 0.658946 0.7032 . MedGen:C3151266|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.7085 synonymous_SNV exonic . 0.695373 . . . . . . . . 0.7038 Name\x3d99.248025 -3 +19 16601358 CALR3 G C 1 0.000199681 . 6.383 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . D D . . . Name\x3d99.778717 8 +19 16601411 CALR3 A T 4 0.0355431 0.0558 . . . . . . . 0.0534 . intronic . 0.047121 . . . . . . . . 0.0564 Name\x3d98.114091 2 +19 16606589 CALR3 A G 1 0.000199681 . 6.072 . . . Name\x3dENSR00000107764|Promoter . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1787468|N/A|RBL2|PAZAR . P D . . . Name\x3d99.915669 10 +19 16606727 CALR3 G A 4 0.00179712 0.0067 . . . . Name\x3dENSR00000107764|Promoter . . . . intronic . 0.0009379 . . . . . . . . . Name\x3d99.508743 8 +19 16606742 CALR3 G C 193 0.802316 0.8724 . . . . Name\x3dENSR00000107764|Promoter . . . . intronic . 0.163801 . . . . . . . . . Name\x3d99.373565 4 +19 16606766 CALR3 G C 193 0.810104 0.8723 . . . . Name\x3dENSR00000107764|Promoter . . . . intronic . 0.0001921 . . . . . . . . . Name\x3d99.197480 4 +19 16606821 CALR3 C T 1 0.000798722 0.0023 . . . . Name\x3dENSR00000107764|Promoter . . 0.0056 . intronic . 0.0017335 . . Name\x3dOREG1822681|N/A|RBL2|PAZAR . . . . . 0.0028 Name\x3d99.794574 5 +19 35521779 SCN1B G T 63 0.148163 0.2040 . EFO:EFO_0005137,MedGen:C2748542|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374 Cardiac_conduction_defect,_nonspecific|Brugada_syndrome|Generalized_epilepsy_with_febrile_seizures_plus|not_specified Benign Name\x3dENSR00001023991|Promoter . . 0.5 . intronic . 0.024534 . . Name\x3dOREG1175688|N/A|TFAP2C|PAZAR . . . . . . Name\x3d98.241974 -3 +19 35524558 SCN1B C T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.510107 3 +19 35524824 SCN1B T C 112 0.377596 0.3890 -0.608 MedGen:CN169374 not_specified Benign . . . 0.4642 nonsynonymous_SNV exonic . 0.295397 T . . . B D . . 0.3721 Name\x3d98.418747 -1 +19 35524836 SCN1B G A 1 0.000399361 0.0038 1.067 MedGen:C1858672,OMIM:604233|MedGen:C2748541,OMIM:612838|MedGen:C3809311,OMIM:615377|MedGen:C4479236,OMIM:617350|MedGen:CN169374|MedGen:CN517202 Generalized_epilepsy_with_febrile_seizures_plus,_type_1|Brugada_syndrome_5|Atrial_fibrillation,_familial,_13|Epileptic_encephalopathy,_early_infantile,_52|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0073 nonsynonymous_SNV exonic . 0.0022509 T . . . B T . . 0.0047 Name\x3d98.498282 6.5 +19 35524939 SCN1B C A 48 0.127396 0.1679 3.869 MedGen:CN169374 not_specified Benign . . . 0.1928 nonsynonymous_SNV exonic . 0.0493008 T . . . B D . . 0.1455 Name\x3d99.032540 -1 +19 35524944 SCN1B G C 48 0.119209 0.1676 1.238 MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign . . . 0.1932 nonsynonymous_SNV exonic . 0.0480912 T . . . B D . . 0.1454 Name\x3d98.223272 -5 +19 35530073 SCN1B T C 7 0.0155751 0.0294 . EFO:EFO_0005137,MedGen:C2748542|Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2748541,OMIM:612838|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374|MedGen:CN230736 Cardiac_conduction_defect,_nonspecific|Seizures|Brugada_syndrome|Brugada_syndrome_5|Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0305 synonymous_SNV exonic . 0.0241459 . . . . . . . . 0.0321 Name\x3d99.483376 -5 +19 35530482 SCN1B C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +19 35530514 SCN1B T G 3 0.0081869 0.0154 . . . . Name\x3dENSR00000588898|Promoter . . 0.0140 . intronic . 0.0118692 . . . . . . . . 0.015 Name\x3d98.420194 0 +19 35530525 SCN1B C A 3 0.00798722 0.0155 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000588898|Promoter . . 0.0140 . intronic . 0.0119145 . . . . . . . . 0.0151 Name\x3d99.185828 0 +19 35530580 SCN1B G A 2 0.000399361 0.0005 5.991 Human_Phenotype_Ontology:HP:0001250,MedGen:C0036572|MedGen:C2748541,OMIM:612838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Seizures|Brugada_syndrome_5|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000588898|Promoter . . 0.0006 nonsynonymous_SNV exonic . 0.0004075 D . . . D D . . 0.0005 Name\x3d99.541412 16 +19 35530586 SCN1B G A 1 0.000199681 6.49e-05 5.849 MedGen:C2748541,OMIM:612838|MedGen:CN169374 Brugada_syndrome_5|not_specified Uncertain_significance Name\x3dENSR00000588898|Promoter . . 1.842e-05 nonsynonymous_SNV exonic . 2.59e-05 D . . . D D . . . Name\x3d99.682159 10 +19 35530690 SCN1B C G 16 0.0383387 0.0987 . . . . Name\x3dENSR00000588898|Promoter . . . . intronic . 0.0119791 . . . . . . . . . Name\x3d98.412912 0 +19 46273462 na CCAGCAGCAGCAGCAGCAGCAGCAGCAG C 181 0.891573 0.1490 . . . . Name\x3dENSR00000110263|Promoter . . . . ncRNA_intronic . 0.0001537 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1772482|N/A|MITF|PAZAR,OREG1197685|N/A|TFAP2C|PAZAR . . . . . . . 0 +19 46273522 na G T 1 0.000399361 0.0003 . . . . Name\x3dENSR00000110263|Promoter . . . . ncRNA_intronic . 0.0003074 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1772482|N/A|MITF|PAZAR,OREG1197685|N/A|TFAP2C|PAZAR . . . . . . Name\x3d95.556010 5 +19 46273627 na G A 2 0.000399361 0.0010 . . . . Name\x3dENSR00000110263|Promoter . . . . ncRNA_intronic . 0.0008837 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1772482|N/A|MITF|PAZAR,OREG1197685|N/A|TFAP2C|PAZAR . . . . . . Name\x3d98.773124 3 +19 46274171 na A C 110 0.608227 0.4695 . . . . Name\x3dENSR00000110263|Promoter . . . . ncRNA_intronic . 0.0001537 . . Name\x3dOREG1197685|N/A|TFAP2C|PAZAR,OREG1810922|N/A|RBL2|PAZAR,OREG1520271|N/A|EGR1|PAZAR,OREG1826234|N/A|RBL2|PAZAR,OREG1628849|N/A|FOS|PAZAR . . . . . . Name\x3d96.641974 1 +19 46274357 na G A 2 0.00299521 0.0147 . . . . Name\x3dENSR00000110263|Promoter . . 0.0231 . ncRNA_intronic . 0.0034411 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR,OREG1911343|N/A|STAT1|PAZAR . . . . . 0.0125 Name\x3d99.318060 1 +19 46274392 na G C 14 0.0543131 0.0550 . . . . Name\x3dENSR00000110263|Promoter . . 0.1435 . ncRNA_intronic . 0.0215974 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR . . . . . . Name\x3d97.711432 1 +19 46274553 na G A 11 0.0177716 0.0525 0.279 . . . Name\x3dENSR00000110263|Promoter . . 0.0595 . ncRNA_intronic . 0.03857 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR . . . . . 0.0519 Name\x3d97.860318 1 +19 46274624 DMPK G A 1 0.00559105 0.0168 3.047 . . . Name\x3dENSR00000110263|Promoter . . 0.0160 nonsynonymous_SNV exonic . 0.0115134 T . Name\x3dOREG1520271|N/A|EGR1|PAZAR . P T . . 0.0149 Name\x3d99.081705 2.5 +19 46274650 DMPK G A 1 0.000199681 . . . . . Name\x3dENSR00000110263|Promoter . Name\x3dMIMAT0000752|hsa-miR-328-3p|Experimental 1.859e-05 synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR . . . . . . Name\x3d99.142812 6 +19 46274701 na G A 1 0.000199681 . . . . . Name\x3dENSR00000110263|Promoter . . 1.875e-05 . ncRNA_intronic . 1.29e-05 . . Name\x3dOREG1520271|N/A|EGR1|PAZAR . . . . . . Name\x3d99.172526 5 +19 46274972 na A C 110 0.576078 0.4674 . . . . Name\x3dENSR00000110263|Promoter . . 0.4603 . ncRNA_exonic . 0.488474 . . . . . . . . 0.4529 Name\x3d96.522029 0 +19 46275976 DMPK G C 22 0.145168 0.1269 2.333 MedGen:CN169374 not_specified Benign . . . 0.1169 nonsynonymous_SNV exonic . 0.137463 T . . . B T . . 0.1129 Name\x3d99.809992 0.5 +19 46276056 DMPK C A 110 0.53754 0.4681 . . . . . . . 0.4737 . intronic . 0.442232 . . . . . . . . 0.4545 . -2 +19 46278189 DMPK G A 1 0.00559105 0.0001 . . . . Name\x3dENSR00001025154|TF_binding_site . . 0.0001 . intronic . 0.0019211 . . . . . . . . . Name\x3d98.839230 2 +19 46280783 DMPK C T 1 0.000199681 . . . . . . . . 1.853e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.673643 3 +19 46280917 DMPK G A 2 0.00599042 0.0035 . MedGen:CN517202 not_provided Likely_benign . . . 0.0043 . intronic . 0.0056856 . . . . . . . 0.002 0.0044 Name\x3d98.705398 1 +19 46281893 DMPK C T 1 0.000199681 0.0002 3.368 . . . . . . 0.0004 nonsynonymous_SNV exonic . 0.0002005 T . . . P D . . 0.0002 Name\x3d99.838515 3 +19 46282503 DMPK A C 23 0.122604 0.1352 . . . . Name\x3dENSR00000110267|Promoter . . 0.1222 . intronic . 0.134539 . . Name\x3dOREG1556196|N/A|ETS1|PAZAR . . . . . 0.1176 Name\x3d99.312514 1 +19 46282683 DMPK G A 3 0.0127796 0.0084 . . . . Name\x3dENSR00000110267|Promoter . . 0.0085 . intronic . 0.0102651 . . . . . . . . 0.0093 Name\x3d99.496527 0 +19 46285498 DMPK G A 1 0.000199681 . 2.577 . . . Name\x3dENSR00000110267|Promoter . . 0.0001 nonsynonymous_SNV exonic . 4.53e-05 T . Name\x3dOREG1186606|N/A|TFAP2C|PAZAR . B T . . . Name\x3d99.696254 6.5 +19 47104678 CALM3 C A 4 0.00379393 0.0169 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000110393|Promoter . . 0.0295 . UTR5 . 0.0047218 . . Name\x3dOREG1249839|N/A|SMARCA4|PAZAR,OREG1609468|N/A|FOXP1|PAZAR,OREG1944831|N/A|ZNF263|PAZAR . . . . . 0.0106 . 0 +19 47104779 CALM3 A C 5 0.0249601 0.0239 . . . . Name\x3dENSR00000110393|Promoter . . . . intronic . 0.0226295 . . Name\x3dOREG1249839|N/A|SMARCA4|PAZAR,OREG1944831|N/A|ZNF263|PAZAR . . . . . . . 0 +19 47109011 CALM3 T C 152 0.843051 0.6929 . . . . . . . . . intronic . 0.736207 . . . . . . . . 0.6911 . -2 +19 47109190 CALM3 G A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +19 47111663 CALM3 T C 152 0.846446 0.6768 . . . . . . . . . intronic . 0.140082 . . Name\x3dOREG1487862|N/A|EGR1|PAZAR . . . . . . . -1 +19 47111722 CALM3 CT C 1 0.000798722 0.0005 . MedGen:CN169374 not_specified Likely_benign . . . 0.0009 . intronic . 0.0007374 . . Name\x3dOREG1487862|N/A|EGR1|PAZAR . . . . . 0.0038 . 1 +19 47112159 CALM3 G A 1 0.000199681 . . . . . . . . 1.911e-05 synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1487862|N/A|EGR1|PAZAR . . . . . . Name\x3d97.259635 4 +19 47112357 CALM3 CCT C 3 0.00599042 0.0219 . MedGen:CN169374 not_specified Likely_benign . . . 0.0176 . intronic . 0.0003428 . . Name\x3dOREG1487862|N/A|EGR1|PAZAR . . . . . 0.0251 . -1 +19 47112464 CALM3 C T 1 0.000399361 . . . . . . . . . . UTR3 . 0.0001153 . . . . . . . . . Name\x3d96.280663 3 +19 47258674 FKRP C T 55 0.103834 0.2514 . MedGen:CN169374 not_specified Benign . . . 0.2908 . UTR5 . 0.169791 . . Name\x3dOREG1506101|N/A|EGR1|PAZAR . . . . . 0.2281 Name\x3d99.307915 4 +19 47258842 FKRP C T 32 0.15016 0.1365 . MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified|not_provided Benign . . . 0.1644 synonymous_SNV exonic . 0.133756 . . Name\x3dOREG1506101|N/A|EGR1|PAZAR . . . . . 0.1418 Name\x3d99.335022 4 +19 47258956 FKRP C T 2 0.0061901 0.0135 . MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374 Walker-Warburg_congenital_muscular_dystrophy|not_specified Benign . . . 0.0225 synonymous_SNV exonic . 0.0091719 . . Name\x3dOREG1506101|N/A|EGR1|PAZAR . . . . . 0.0134 Name\x3d99.529250 2 +19 47259048 FKRP C G 9 0.0061901 0.0116 0.398 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374|MedGen:CN517202 Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0409 nonsynonymous_SNV exonic . 0.0057826 D . Name\x3dOREG1506101|N/A|EGR1|PAZAR . B T . . 0.0106 Name\x3d99.369872 2 +19 47259134 FKRP C A 4 0.00259585 0.0048 1.067 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374|MedGen:CN517202 Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0134 nonsynonymous_SNV exonic . 0.0018434 D . Name\x3dOREG1506101|N/A|EGR1|PAZAR . B T . . 0.0049 Name\x3d99.256031 2 +19 47259488 FKRP G A 2 0.000399361 . 1.329 . . . . . . . nonsynonymous_SNV exonic . 1.29e-05 D . Name\x3dOREG1506101|N/A|EGR1|PAZAR . B T . . . Name\x3d99.216862 6 +19 49661112 TRPM4 G A 61 0.150359 0.2865 . MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871 not_specified|Progressive_familial_heart_block Benign/Likely_benign Name\x3dENSR00000110849|Promoter . . 0.3047 . UTR5 . 0.0014877 . . Name\x3dOREG1195783|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.751585 3 +19 49661274 TRPM4 T G 1 0.000199681 . . . . . Name\x3dENSR00000110849|Promoter . . . . intronic . 3.84e-05 . . Name\x3dOREG1195783|N/A|TFAP2C|PAZAR . . . . . . Name\x3d97.772546 7 +19 49661547 TRPM4 A G 29 0.223642 0.1320 . . . . Name\x3dENSR00000110849|Promoter . . 0.1416 . intronic . 0.173814 . . Name\x3dOREG1195783|N/A|TFAP2C|PAZAR . . . . . 0.1345 Name\x3d98.598376 3 +19 49661582 TRPM4 T C 180 0.599441 0.8594 . . . . Name\x3dENSR00000110849|Promoter . . . . intronic . 0.0001153 . . Name\x3dOREG1195783|N/A|TFAP2C|PAZAR . . . . . 0.8564 Name\x3d99.199773 3 +19 49669486 TRPM4 C G 1 0.0319489 0.0016 . MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871 not_specified|Progressive_familial_heart_block Benign/Likely_benign . . . 0.0036 . intronic . 0.0104074 . . . . . . . . 0.0026 Name\x3d98.912389 3 +19 49671118 TRPM4 C T 1 0.0207668 . . . . . . . . . . intronic . 0.0009379 . . . . . . . . . . 0 +19 49671151 TRPM4 G A 72 0.338858 0.1345 . . . . . . . 0.3313 . intronic . 0.0008085 . . . . . . . . 0.3301 . 0 +19 49671207 TRPM4 G A 6 0.0159744 0.0115 0.454 MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign . . . 0.0219 nonsynonymous_SNV exonic . 0.0197151 T . . . B T . . 0.0187 Name\x3d99.049363 -1.5 +19 49671212 TRPM4 T G 6 0.0159744 0.0114 . MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign . . . 0.0219 synonymous_SNV exonic . 0.0031242 . . . . . . . . 0.0187 Name\x3d99.096345 -3 +19 49671281 TRPM4 G A 12 0.0910543 0.0406 . MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0504 synonymous_SNV exonic . 0.060355 . . . . . . . . 0.0423 Name\x3d98.429518 -1 +19 49671482 TRPM4 C T 1 0.00219649 0.0039 . . . . . . . 0.0053 . intronic . 0.0033764 . . . . . . . . 0.0051 . 2 +19 49671507 TRPM4 G A 2 0.0119808 0.0294 . MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871 Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block Benign/Likely_benign . . . 0.0227 . intronic . 0.0203814 . . . . . . 0.0012 0.006 0.0257 Name\x3d96.899522 1 +19 49671771 TRPM4 C T 6 0.0159744 0.0315 . . . . . . . 0.0221 . intronic . 0.0199027 . . . . . . . . 0.0186 . 2 +19 49671893 TRPM4 C T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.469685 5 +19 49671980 TRPM4 G A 6 0.0157748 0.0313 . MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0443 synonymous_SNV exonic . 0.0187643 . . . . . . . . 0.0185 Name\x3d99.145692 1 +19 49674722 TRPM4 G A 4 0.00359425 0.0081 . . . . . . . 0.0098 . intronic . 0.0058343 . . . . . . . . 0.0070 . 6 +19 49674846 TRPM4 C T 1 0.000798722 0.0073 . MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0044 synonymous_SNV exonic . 0.003247 . . . . . . . . 0.0056 Name\x3d99.454331 1 +19 49675017 TRPM4 G T 10 0.0597045 0.0382 . MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0460 synonymous_SNV exonic . 0.0467782 . . . . . . . . 0.0372 Name\x3d99.315756 -1 +19 49675038 TRPM4 G GGGGC 2 0.0279553 0.0017 . MedGen:CN230454,Orphanet:ORPHA871 Progressive_familial_heart_block Likely_benign . . . 0.0030 . intronic . 0.0003428 . . . . . . . . 0.0023 Name\x3d98.801509 1 +19 49675233 TRPM4 C T 12 0.0914537 0.0406 . . . . . . . 0.0494 . intronic . 0.0578259 . . . . . . . . 0.0421 . 0 +19 49675366 TRPM4 G A 1 0.000399361 6.493e-05 4.520 MedGen:C1970298,OMIM:604559|MedGen:CN517202 Progressive_familial_heart_block_type_1B|not_provided Conflicting_interpretations_of_pathogenicity . . . 3.686e-05 . splicing . 2.59e-05 . . . . . . 1.0000 0.936 . Name\x3d99.216093 14 +19 49675439 TRPM4 A G 1 0.000199681 0.0012 . . . . . . . . . intronic . 0.0002005 . . . . . . . . . . 2 +19 49675456 TRPM4 C T 6 0.00599042 0.0317 . . . . . . . . . intronic . 0.0024838 . . . . . . . . . . 2 +19 49684586 TRPM4 T A 5 0.0145767 0.0642 . MedGen:CN169374 not_specified Benign . . . 0.0571 . intronic . 0.0405752 . . . . . . . . 0.0581 . 1 +19 49684787 TRPM4 CTTTTTTTTTT C 6 0.0181709 0.0367 . . . . . . . . . intronic . 0.0026126 . . . . . . . . . . 0 +19 49685794 TRPM4 C T 1 0.000199681 0.0002 . . . . . . . 0.0009 . intronic . 0.0004916 . . . . . . . . 0.0003 . 2 +19 49685865 TRPM4 G A 1 0.000399361 0.0002 6.830 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1970298,OMIM:604559|MedGen:CN169374 Brugada_syndrome|Progressive_familial_heart_block_type_1B|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0006 nonsynonymous_SNV exonic . 0.0004981 D . . . P D . . 0.0010 Name\x3d99.352157 10 +19 49686028 TRPM4 CCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT C 1 0.00439297 0.0112 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1970298,OMIM:604559|MedGen:CN230736 Brugada_syndrome|Progressive_familial_heart_block_type_1B|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0110 nonframeshift_deletion exonic . 0.0002264 . . . . . . . . 0.0098 Name\x3d99.200078,99.310502,99.196968,99.262524,99.302314 5 +19 49686146 TRPM4 G A 1 0.000399361 0.0016 6.169 EFO:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|MedGen:C1970298,OMIM:604559|MedGen:CN169374 Sudden_cardiac_death|Progressive_familial_heart_block_type_1B|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0018 stopgain exonic . 0.0013195 . . . . . . . . 0.0011 Name\x3d99.104700 15 +19 49691870 TRPM4 C T 3 0.00878594 0.0060 . . . . . . . 0.0061 . intronic . 0.0078136 . . Name\x3dOREG1518156|N/A|EGR1|PAZAR . . . . . 0.0059 . 7 +19 49691871 TRPM4 G A 1 0.00119808 0.0027 . . . . . . . 0.0025 . intronic . 0.0022251 . . Name\x3dOREG1518156|N/A|EGR1|PAZAR . . . . . 0.0045 . 3 +19 49691898 TRPM4 G A 1 0.000399361 0.0003 2.616 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1970298,OMIM:604559|MedGen:CN169374 Brugada_syndrome|Progressive_familial_heart_block_type_1B|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0005239 T . Name\x3dOREG1518156|N/A|EGR1|PAZAR . B T 0.0689 0.292 0.0010 Name\x3d99.382074 9.5 +19 49692171 TRPM4 T G 1 0.000199681 6.488e-05 . . . . . . . . . intronic . 6.5e-06 . . Name\x3dOREG1518156|N/A|EGR1|PAZAR . . . . . . . 5 +19 49692373 TRPM4 C G 64 0.34365 0.2948 . . . . . . . 0.3180 . intronic . 0.312984 . . . . . . . . 0.3220 . 0 +19 49694029 TRPM4 G A 2 0.00339457 0.0029 -1.018 MedGen:C1970298,OMIM:604559|MedGen:CN169374 Progressive_familial_heart_block_type_1B|not_specified Benign . . . 0.0018 nonsynonymous_SNV exonic . 0.0019663 T . . . B T . 0.008 0.0017 Name\x3d97.662850 4.5 +19 49699866 TRPM4 C T 16 0.11242 0.0464 . MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign . . Name\x3dMIMAT0000101|hsa-miR-103a-3p|Experimental,MIMAT0000104|hsa-miR-107|Experimental 0.1031 synonymous_SNV exonic . 0.0482982 . . . . . . . . 0.0411 Name\x3d99.734596 0 +19 49700017 TRPM4 G A 1 0.00179712 0.0009 3.333 MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0046 nonsynonymous_SNV exonic . 0.0007244 T . . . P D . . 0.0016 Name\x3d99.390722 7 +19 49703799 TRPM4 T G 2 0.00259585 0.0063 . . . . . . . . . intronic . 0.0008085 . . . . . . . . . . 2 +19 49713732 TRPM4 G A 1 0.000599042 0.0010 . . . . Name\x3dENSR00000592527|Promoter . . . . intronic . 0.0009605 . . . . . . . . . Name\x3d97.914772 4 +19 49714732 TRPM4 C G 3 0.0203674 0.0030 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000592527|Promoter . . 0.0041 . intronic . 0.0081047 . . Name\x3dOREG1729593|N/A|HNF4A|PAZAR . . . . . 0.0027 Name\x3d96.824986 3 +19 49714839 TRPM4 C T 3 0.00199681 0.0023 . MedGen:CN230454,Orphanet:ORPHA871 Progressive_familial_heart_block Uncertain_significance Name\x3dENSR00000592527|Promoter . . . . UTR3 . 0.0005757 . . . . . . . . 0.0016 . 7 +19 49714878 TRPM4 T A 1 0.000199681 . . . . . Name\x3dENSR00000592527|Promoter . . . . UTR3 . 3.84e-05 . . . . . . . . . . 5 +19 55665349 TNNI3 A G 1 0.00159744 0.0020 . . . . . . . 0.0015 . intronic . 0.0012807 . . . . . . . . 0.0014 . 2 +19 55665410 TNNI3 C T 20 0.0477236 0.0644 . 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 . . . 0.0724 unknown exonic . 0.0637314 . . . . . . . . 0.0658 Name\x3d99.946490 -1 +19 55665584 TNNI3 A C 214 1 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 Name\x3dENSR00001026301|Enhancer . . 1 . intronic . 0.938261 . . . . . . 0.0052 0.15 . Name\x3d98.896030 0 +19 55666036 TNNI3 G A 1 0.000199681 . . . . . Name\x3dENSR00001026302|Enhancer . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d99.325848 6 +19 55666281 TNNI3 C G 1 0.000998403 0.0005 . . . . Name\x3dENSR00001026302|Enhancer . . . . intronic . 0.0001921 . . . . . . . . . . 3 +19 55667500 TNNI3 A T 1 0.137181 0.0280 . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 0.0001153 . . Name\x3dOREG1518091|N/A|EGR1|PAZAR . . . . . . Name\x3d98.735592 3 +19 55667647 TNNI3 C A 21 0.0227636 0.0549 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 Name\x3dENSR00000111601|Promoter . . 0.0653 unknown exonic . 3.88e-05 . . Name\x3dOREG1518091|N/A|EGR1|PAZAR . . . . . 0.0505 Name\x3d99.960088 1 +19 55667871 TNNI3 C A 1 0.000199681 6.494e-05 . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 0.0002305 . . Name\x3dOREG1518091|N/A|EGR1|PAZAR,OREG1909172|N/A|STAT1|PAZAR,OREG0396464|N/A|EGR1|JASPAR . . . . . . Name\x3d99.867355 7 +19 55667958 TNNI3 C T 2 0.076877 0.0019 . 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 Name\x3dENSR00000111601|Promoter . . 0.0060 . intronic . 0.0168627 . . Name\x3dOREG1909172|N/A|STAT1|PAZAR,OREG1518091|N/A|EGR1|PAZAR . . . . . 0.0036 Name\x3d99.154740 1 +19 55668105 TNNI3 C T 1 0.000199681 . . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 3.84e-05 . . Name\x3dOREG1909172|N/A|STAT1|PAZAR,OREG1518091|N/A|EGR1|PAZAR . . . . . . Name\x3d99.937105 7 +19 55668116 TNNI3 T C 1 0.000199681 6.496e-05 . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 3.84e-05 . . Name\x3dOREG1518091|N/A|EGR1|PAZAR . . . . . . Name\x3d99.855055 7 +19 55668397 TNNI3 C T 20 0.0477236 0.065 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000111601|Promoter . . 0.1308 . intronic . 0.0492814 . . . . . . . . 0.0622 Name\x3d99.853733 2 +19 55668509 TNNI3 A T 51 0.458067 0.1971 . 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 Name\x3dENSR00000111601|Promoter . . 0.2447 . intronic . 0.283651 . . . . . . 0.0021 0.14 0.1948 Name\x3d99.869269 0 +19 55668819 TNNI3 A G 48 0.247204 0.1668 . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 0.0364032 . . Name\x3dOREG0604679|N/A|ELF1|JASPAR . . . . . . Name\x3d99.801440 3 +19 55668848 TNNI3 G C 25 0.0716853 0.0613 . . . . Name\x3dENSR00000111601|Promoter . . . . intronic . 0.0136674 . . . . . . . . 0.0679 Name\x3d98.637312 2 +19 55668992 TNNI3 G T 2 0.076877 0.0019 . 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 . . . 0.0028 . UTR5 . 0.0224318 . . . . . . . . 0.0033 Name\x3d99.341289 -1 +19 55669004 TNNI3 G A 1 0.00259585 0.0088 . . . . . . . 0.0108 . UTR5 . 0.0074579 . . . . . . . . 0.0094 Name\x3d99.562649 1 +19 55669055 TNNI3 G T 1 0.00519169 0.0127 . . . . . . . 0.0177 . UTR5 . 0.010375 . . . . . . . . . Name\x3d99.531250 2 +1 2985808 PRDM16 T C 26 0.0347444 . . . . . Name\x3dENSR00000000391|Promoter . . 0.0003 . UTR5 . 0.0011255 . . Name\x3dOREG1506430|N/A|EGR1|PAZAR . . . . . . Name\x3d99.562232 1 +1 2985885 PRDM16 C G 75 0.360224 0.4221 . . . . Name\x3dENSR00000000391|Promoter . . 0.4487 . intronic . 0.340642 . . Name\x3dOREG1506430|N/A|EGR1|PAZAR . . . . . 0.3766 Name\x3d99.516698 1 +1 3102751 PRDM16 G A 1 0.00119808 0.0036 3.057 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign . . . 0.0028 nonsynonymous_SNV exonic . 0.0020504 T . . . P D . . 0.0025 Name\x3d99.609489 -1 +1 3102852 PRDM16 G A 1 0.00119808 0.0013 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign . . . 0.0032 synonymous_SNV exonic . 0.0019275 . . Name\x3dOREG1184902|N/A|TFAP2C|PAZAR . . . . . 0.0029 Name\x3d99.777510 0 +1 3301721 PRDM16 C T 56 0.340455 0.2763 . MedGen:CN169374 not_specified Benign . . . 0.2708 synonymous_SNV exonic . 0.316684 . . . . . . . . 0.2668 Name\x3d99.546050 -1 +1 3313213 PRDM16 G A 2 0.00379393 0.0079 . . . . . . . . . intronic . 0.0068772 . . . . . . . . . . 0 +1 3319339 PRDM16 G A 14 0.0213658 0.0753 . MedGen:CN169374 not_specified Benign . . . 0.0693 . intronic . 0.0514806 . . . . . . . . . . -2 +1 3319461 PRDM16 C T 3 0.0115815 0.0110 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign . . . 0.0101 synonymous_SNV exonic . 0.0133375 . . . . . . . . 0.0107 Name\x3d99.864227 -5 +1 3319541 PRDM16 G A 1 0.000199681 . 1.963 MedGen:C3809288,OMIM:615373 Left_ventricular_noncompaction_8 Uncertain_significance . . . 3.694e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . P T . . . Name\x3d99.898933 4.5 +1 3319601 PRDM16 ACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG A 54 0.35603 0.2805 . . . . . . . 0.1615 . intronic . 0.169881 . . . . . . . . 0.1776 . -2 +1 3321303 PRDM16 C T 1 0.000199681 . . . . . . . . 1.847e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . 0.0142 0.272 . Name\x3d99.833138 3 +1 3322049 PRDM16 G A 1 0.000399361 0.0003 . MedGen:C3809288,OMIM:615373 Left_ventricular_noncompaction_8 Likely_benign . . . 7.79e-05 . intronic . 8.41e-05 . . . . . . 0.0001 0.002 0.0002 Name\x3d97.168282 1 +1 3327904 PRDM16 G A 3 0.00199681 0.0104 . . . . . . . 0.0058 . intronic . 0.0043466 . . . . . . . . 0.0051 Name\x3d98.695749 -1 +1 3327973 PRDM16 G A 2 0.00279553 0.0066 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign . . . 0.0059 synonymous_SNV exonic . 0.0039456 . . . . . . . . 0.0054 Name\x3d99.895594 -3 +1 3328358 PRDM16 T C 181 0.945088 0.8435 -0.543 MedGen:CN169374 not_specified Benign . . . 0.8420 nonsynonymous_SNV exonic . 0.871858 T . . . B T . . 0.8356 Name\x3d99.876291 0.5 +1 3328499 PRDM16 G A 1 0.000599042 6.499e-05 0.428 . . . . . . 3.719e-05 nonsynonymous_SNV exonic . 9.06e-05 T . . . B T . . . Name\x3d99.688538 2.5 +1 3328646 PRDM16 G A 1 0.000199681 . 1.763 . . . . . . 3.79e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . P T . . . Name\x3d99.892011 4.5 +1 3328659 PRDM16 C T 48 0.10603 0.1399 3.424 MedGen:CN169374 not_specified Benign . . . 0.1654 nonsynonymous_SNV exonic rs2493292|Systolic-blood-pressure|0.37|1E-8|PMID:27618448 0.126176 T . . . B D . . 0.1516 Name\x3d99.885826 0 +1 3329051 PRDM16 G A 1 0.000798722 0.0015 -0.133 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0019 nonsynonymous_SNV exonic . 0.001313 T . Name\x3dOREG1506439|N/A|EGR1|PAZAR . P T . . 0.0024 Name\x3d99.765136 7.5 +1 3329182 PRDM16 C T 1 0.000399361 . . . . . . . . . synonymous_SNV exonic . 9.06e-05 . . Name\x3dOREG1506439|N/A|EGR1|PAZAR . . . . . . Name\x3d99.810339 4 +1 3329213 PRDM16 G A 2 0.00119808 0.0025 0.736 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign . . . 0.0057 nonsynonymous_SNV exonic . 0.0016041 T . Name\x3dOREG1506439|N/A|EGR1|PAZAR . D T . . 0.0020 Name\x3d99.670412 0 +1 3329229 PRDM16 G C 1 0.000798722 0.0034 4.698 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign . . . 0.0078 nonsynonymous_SNV exonic . 0.0012742 T . Name\x3dOREG1506439|N/A|EGR1|PAZAR . D D . . 0.0019 Name\x3d99.798685 3 +1 3329384 PRDM16 C T 46 0.107029 0.1381 . MedGen:CN169374 not_specified Benign . . . 0.2509 . intronic rs2493291|Rheumatoid-arthritis||2E-14|PMID:30891314 0.0647469 . . Name\x3dOREG1506439|N/A|EGR1|PAZAR . . . . . 0.1344 Name\x3d98.800923 0 +1 3331099 PRDM16 C T 2 0.00199681 0.0081 . . . . . . . 0.0130 . intronic . 0.0057179 . . . . . . . . 0.0098 Name\x3d99.532652 -1 +1 3331192 PRDM16 C T 1 0.000399361 . 6.541 . . . . . . 1.93e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . D D . . . Name\x3d99.699868 6 +1 3334598 PRDM16 C T 1 0.00539137 0.0159 . . . . . . . 0.0149 . intronic . 0.0090749 . . . . . . . . 0.0090 . -2 +1 3335162 PRDM16 A G 2 0.00319489 6.504e-05 . . . . . . . . . intronic . 0.00073 . . . . . . . . . . 0 +1 3342109 PRDM16 G T 66 0.117412 0.1958 . . . . . . . 0.2241 . intronic . 0.167973 . . . . . . . . 0.2125 . -2 +1 3342128 PRDM16 G A 1 0.00539137 0.0215 . MedGen:CN169374 not_specified Benign . . . 0.0178 . intronic . 0.0131434 . . . . . . . . 0.0206 Name\x3d95.477051 -1 +1 3342364 PRDM16 C T 11 0.0613019 0.0384 . . . . . . . 0.0401 . intronic . 0.0397537 . . . . . . . . 0.0374 . -2 +1 3342804 PRDM16 G T 61 0.379393 0.2639 . MedGen:CN169374 not_specified Benign . . . 0.2665 . intronic . 0.292745 . . Name\x3dOREG1896606|N/A|STAT1|PAZAR . . . . . 0.2724 . -1 +1 3342817 PRDM16 A T 1 0.000399361 0.0003 . . . . . . . 0.0003 . intronic . 0.0001876 . . Name\x3dOREG1896606|N/A|STAT1|PAZAR . . . . . 0.0004 . 3 +1 3350173 PRDM16 T C 71 0.403754 0.0367 . . . . . . . . . intronic . 0.0355041 . . . . . . . . . . -2 +1 3350409 PRDM16 G A 4 0.0982428 0.0254 . . . . . . . 0.0285 . UTR3 . 0.0558466 . . . . . . . . 0.0266 Name\x3d97.118171 -1 +1 11905974 na A G 10 0.0309505 0.0548 . . . . Name\x3dENSR00000347430|TF_binding_site . . . . ncRNA_intronic rs5068|Systolic-blood-pressure-(cigarette-smoking-interaction)||9E-35|PMID:29455858 0.0091202 . . . . . . . . 0.0522 . 0 +1 11905981 na A G 24 0.179113 0.1377 . . . . Name\x3dENSR00000347430|TF_binding_site . . . . ncRNA_intronic . 0.0285443 . . . . . . . . 0.1496 . 0 +1 11905995 na C A 10 0.0221645 0.0513 . . . . Name\x3dENSR00000347430|TF_binding_site . . . . ncRNA_intronic . 0.0093272 . . . . . . . . 0.0641 . 0 +1 11906068 NPPA A G 24 0.179113 0.1381 1.595 MedGen:CN169374 not_specified Benign . . . 0.1315 stoploss exonic . 0.142514 . . . . . . . . 0.1552 Name\x3d97.212879 8 +1 11906129 na G T 1 0.000199681 6.488e-05 . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 2 +1 11907603 na G A 14 0.129593 0.0864 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign . . . 0.0730 . ncRNA_exonic . 0.0886405 . . . . . . . . 0.0877 . -5 +1 11907648 NPPA C T 3 0.0734824 0.0456 0.267 . . . . . . 0.0425 nonsynonymous_SNV exonic rs5063|Psoriasis|1.1764705|4E-9|PMID:25854761 0.0558854 T . . . P T . . 0.0471 Name\x3d97.940426 0.5 +1 26378362 TRIM63 C T 1 0.00219649 0.0072 . . . . . . . 0.0062 . UTR3 . 0.0045148 . . . . . . . . 0.0086 . 0 +1 26378415 TRIM63 G A 1 0.000199681 . . . . . . . . 2.051e-05 . intronic . 6.5e-06 . . . . . . . . . . 2 +1 26383618 TRIM63 C G 2 0.0964457 0.0019 . . . . . . . . . intronic . 0.0052393 . . . . . . . . . . -2 +1 26383645 TRIM63 CCAGGGGT C 52 0.0926518 0.2515 . . . . . . . 0.2398 . intronic . 0.005388 . . . . . . . . 0.2340 . -2 +1 26383647 TRIM63 A G 1 0.000199681 . . . . . . . . 9.809e-05 . intronic . 2.59e-05 . . . . . . . . . . 2 +1 26383700 TRIM63 C G 1 0.000199681 . 2.499 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d97.818774 4.5 +1 26383875 TRIM63 A G 62 0.260783 0.1931 . . . . . . . . . intronic . 0.044883 . . . . . . . . . . 0 +1 26384013 TRIM63 A G 59 0.117412 0.1902 . . . . . . . . . intronic . 0.0349931 . . . . . . . . . . 0 +1 26385003 TRIM63 T C 60 0.182308 0.1924 1.211 . . . . . . 0.2233 nonsynonymous_SNV exonic . 0.19232 T . . . B T . . 0.2165 Name\x3d97.333441 2.5 +1 26385150 TRIM63 G C 60 0.156749 0.1923 . . . . . . . 0.2238 . intronic . 0.182469 . . . . . . . . 0.2160 . 0 +1 26386771 TRIM63 G A 1 0.000199681 . 1.871 . . . Name\x3dENSR00000351410|TF_binding_site . . 3.683e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . 0.0001 Name\x3d98.755141 5.5 +1 26387625 TRIM63 A C 50 0.11881 0.1613 . . . . . . . 0.1881 . intronic . 0.146182 . . . . . . . . 0.1777 . -1 +1 26387783 TRIM63 G A 1 0.00119808 0.0023 . . . . . . . 0.0016 synonymous_SNV exonic . 0.0011449 . . . . . . . . 0.0026 Name\x3d98.084419 1 +1 26392824 TRIM63 C A 5 0.0183706 0.1037 . . . . Name\x3dENSR00000351413|Promoter . . 0.0786 synonymous_SNV exonic . 0.0555814 . . . . . . . . 0.0844 Name\x3d98.071261 1 +1 26393974 TRIM63 C T 3 0.0415335 0.0010 . . . . Name\x3dENSR00000351413|Promoter . . 0.0011 synonymous_SNV exonic . 0.0153297 . . . . . . . . 0.0010 Name\x3d97.728132 0 +1 74701107 TNNI3K C T 4 0.00559105 0.0131 . . . . . . . 0.0126 . UTR5 . 0.0090102 . . . . . . . . 0.0136 . -2 +1 74701295 na T A 214 0.976837 0.9999 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +1 74701950 na T A 63 0.351837 0.3152 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -1 +1 74716310 na C A 1 0.0692891 0.0004 . . . . . . . 0.0007 . intronic . 0.0180205 . . . . . . . . 0.0010 . -2 +1 74716515 na CT CTT,C 1 0.0299521 0.0746 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +1 74716524 na T C 5 0.0299521 0.0591 . . . . . . . . . intronic . 0.0171738 . . . . . . . . . . -2 +1 74737269 na T C 1 0.000399361 0.0001 . . . . . . . 0.0004 . intronic . 0.0002717 . . . . . . . . 0.0003 . 2 +1 74737274 na C T 3 0.00579073 0.0052 . . . . . . . 0.0086 . intronic . 0.0055433 . . . . . . . 0.002 0.0083 . 4 +1 74801864 na A G 9 0.113019 0.0335 . . . . . . . 0.0459 . intronic . 0.063602 . . . . . . . . 0.0399 . -2 +1 74801871 na G C 5 0.00339457 0.0096 . . . . . . . 0.0090 . intronic . 0.0061642 . . . . . . . . 0.0081 . 8 +1 74801878 na G A 1 0.000199681 0.0004 . . . . . . . 0.0005 . intronic . 0.0002458 . . . . . . . . 0.0001 . 0 +1 74808620 na G C 2 0.00119808 0.0025 -2.697 . . . . . . 0.0022 nonsynonymous_SNV exonic . 0.001423 T . . . B T . . 0.0016 . 1.5 +1 74808631 na C T 1 0.00199681 0.0016 5.184 . . . . . . 0.0019 nonsynonymous_SNV exonic . 0.0022315 T . . . P D . . 0.0024 Name\x3d95.291731 4 +1 74818872 na G A 6 0.0535144 0.0585 . . . . . . . . . intronic . 0.0105238 . . . . . . . . . . -2 +1 74819077 na T G 208 0.939097 0.9416 . . . . . . . 0.9435 . intronic . 0.924555 . . . . . . . . 0.9423 . -2 +1 74832855 na C T 1 0.00159744 0.0042 . . . . . . . . . intronic . 0.0003752 . . . . . . . . . . 0 +1 74833505 na G A 1 0.00359425 0.0001 . . . . . . . . . intronic . 0.0002911 . . . . . . . . . . 0 +1 74836154 na T G 6 0.0535144 0.0588 . . . . . . . . . intronic . 0.0104397 . . . . . . . . . . -2 +1 74901739 na CT C 119 0.540335 0.7325 . . . . . . . 0.1365 . intronic . 0.0003622 . . . . . . . . . . -2 +1 74901829 na A C 8 0.0776757 0.0596 . . . . . . . 0.0616 . intronic . 0.0636085 . . . . . . . . 0.06 . -2 +1 74902244 na A G 8 0.0662939 0.0619 . . . . . . . 0.0621 . intronic . 0.0607301 . . . . . . . . 0.0619 Name\x3d95.654677 -1 +1 74929048 na T G 2 0.00319489 0.0093 . . . . . . . . . intronic . 0.0001921 . . . . . . . . . . 0 +1 74929075 na T C 3 0.0660942 0.0056 . . . . . . . 0.0076 . intronic . 0.0267849 . . . . . . . . 0.0070 . -2 +1 74929131 na C G 3 0.00858626 . 6.930 . . . . . . 1.862e-05 nonsynonymous_SNV exonic . 0.0002781 D . . . D D . . . Name\x3d97.509553 11 +1 74954856 na C CT 4 0.081869 0.0119 . . . . . . . 0.0137 . intronic . 0.0010155 . . . . . . . . 0.0168 . -2 +1 74957896 na G C 1 0.000199681 6.484e-05 7.042 . . . . . . 7.374e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . D T . . 0.0001 Name\x3d97.168821 6 +1 75005984 na C T 1 0.000199681 . . . . . . . . 3.701e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d95.128939 3 +1 75006027 na A G 120 0.324481 0.5647 . . . . . . . 0.5594 . intronic . 0.0032665 . . . . . . . . 0.5560 . -2 +1 75006076 na G A 204 0.916334 0.9606 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +1 75009539 na G A 1 0.000199681 . . . . . . . . 1.866e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 +1 75009749 na A G 1 0.000199681 . . . . . . . . . . UTR3 . 3.84e-05 . . . . . . . . . Name\x3d98.637970 3 +1 78383467 NEXN G A 189 0.763778 0.8547 . . . . . . . 0.8610 . intronic . 0.788858 . . . . . . . . 0.8608 Name\x3d99.448456 1 +1 78383669 NEXN G C 1 0.000199681 . 5.175 . . . . . . 1.844e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P D . . . Name\x3d99.825396 8 +1 78383732 NEXN C T 1 0.000199681 . . . . . . . . 1.844e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d97.926567 5 +1 78390821 NEXN CA C 5 0.00938498 0.0163 . . . . . . . . . intronic . 0.0016905 . . . . . . . . 0.0251 Name\x3d99.749426 1 +1 78391020 NEXN T C 4 0.0341454 0.0174 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . Name\x3d95.131935 1 +1 78392446 NEXN G A 48 0.150759 0.2103 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 Name\x3dENSR00000008757|Promoter . . 0.2162 nonsynonymous_SNV exonic rs1166698|Lung-function-(FEV1/FVC)||2E-15|PMID:30595370 0.0013907 T . . . D D . . 0.2073 Name\x3d99.839430 3 +1 78394997 NEXN T C 1 0.000199681 . . . . . . . . 1.864e-05 . intronic . 1.29e-05 . . . . . . . 0.03 . Name\x3d97.612935 5 +1 78399207 NEXN C G 172 0.664537 0.8149 . . . . . . . 0.8178 . intronic . 0.0001552 . . . . . . . . 0.8166 . 0 +1 78399212 NEXN T C 17 0.0944489 0.0396 . . . . . . . 0.0612 . intronic . 0.0485311 . . . . . . . . 0.0437 . 0 +1 78407911 NEXN C G 1 0.00119808 0.0038 . MedGen:CN169374 not_specified Benign . . . 0.0028 . intronic . 0.0027555 . . Name\x3dOREG1242724|N/A|SMARCA4|PAZAR . . . . . 0.0032 Name\x3d96.932182 4 +1 78408536 NEXN C G 16 0.122005 0.0856 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . 0.1187 . UTR3 . 0.0998111 . . . . . . . . 0.0849 Name\x3d99.352839 -1 +1 112318945 KCND3 C A 1 0.000199681 . . . . . Name\x3dENSR00000368797|Enhancer . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d98.612548 4 +1 112319899 KCND3 C T 2 0.000399361 . . . . . . . . 7.36e-05 . intronic . 4.53e-05 . . . . . . . . . Name\x3d99.583364 3 +1 112320984 KCND3 G A 1 0.0285543 0.0007 . . . . Name\x3dENSR00000368799|Enhancer . . . . intronic . 0.0086061 . . . . . . . . . Name\x3d98.627817 0 +1 112321032 KCND3 T A 26 0.192692 0.2084 . . . . Name\x3dENSR00000368799|Enhancer . . 0.1952 . intronic . 0.180444 . . . . . . . . 0.1974 Name\x3d99.550118 1 +1 112329551 KCND3 G T 35 0.192692 0.1555 . MedGen:CN169374 not_specified Benign . . . 0.1486 . intronic . 0.161634 . . . . . . . . 0.1417 Name\x3d98.047328 -1 +1 112524467 KCND3 G C 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1520082|N/A|EGR1|PAZAR . . . . . . Name\x3d99.758332 4 +1 112524583 KCND3 G A 1 0.000199681 . 6.470 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1520082|N/A|EGR1|PAZAR . D D . . . Name\x3d99.769855 10 +1 112524680 KCND3 C G 3 0.0081869 0.0255 . MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736 Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype Benign . . . 0.0200 synonymous_SNV exonic . 0.0141395 . . Name\x3dOREG1520082|N/A|EGR1|PAZAR . . . . . 0.0186 Name\x3d99.770690 -4 +1 112525085 KCND3 G A 14 0.0471246 0.1159 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1249 synonymous_SNV exonic . 0.0906068 . . Name\x3dOREG1520082|N/A|EGR1|PAZAR . . . . . 0.1205 Name\x3d99.749781 -4 +1 115252142 NRAS A T 1 0.000199681 . . . . . . . . 1.843e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d95.365687 3 +1 115252280 NRAS C T 1 0.000199681 0.0006 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Rasopathy|not_specified|not_provided Benign/Likely_benign . . . 0.0005 synonymous_SNV exonic . 0.0002911 . . . . . . . . 0.0006 Name\x3d99.689718 1 +1 115256669 NRAS G A 144 0.8752 0.6349 . . . . . . . . . intronic . 0.0002689 . . . . . . . . . Name\x3d99.124346 -1 +1 115258827 NRAS T G 46 0.202276 6.491e-05 . . . . Name\x3dENSR00000011708|Promoter . . 0.0049 . intronic . 0.0136221 . . Name\x3dOREG1255760|N/A|SMARCA4|PAZAR,OREG1494612|N/A|EGR1|PAZAR . . . . . . Name\x3d99.361805 1 +1 115258830 NRAS C G 46 0.221446 . . . . . Name\x3dENSR00000011708|Promoter . . 0.0543 . intronic . 0.0638284 . . Name\x3dOREG1255760|N/A|SMARCA4|PAZAR,OREG1494612|N/A|EGR1|PAZAR . . . . . . Name\x3d99.361805 1 +1 116243868 CASQ2 A G 14 0.0309505 0.0683 . Human_Phenotype_Ontology:HP:0045005,MedGen:C3891448,OMIM:182940,Orphanet:ORPHA3388,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 . . . 0.0625 synonymous_SNV exonic . 0.0529683 . . . . . . . . 0.0614 Name\x3d99.698690 -3 +1 116243877 CASQ2 G A 106 0.425719 0.3610 . Human_Phenotype_Ontology:HP:0045005,MedGen:C3891448,OMIM:182940,Orphanet:ORPHA3388,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 . . . 0.3609 synonymous_SNV exonic . 0.0005692 . . . . . . . . 0.3573 Name\x3d99.771213 -3 +1 116245655 CASQ2 G C 61 0.216054 0.2199 . . . . . . . 0.2322 . intronic . 0.196233 . . Name\x3dOREG1489158|N/A|EGR1|PAZAR . . . . . 0.2029 Name\x3d99.527187 2 +1 116247790 CASQ2 G A 60 0.428714 0.2944 . MedGen:CN169374 not_specified Benign . . . 0.3097 . intronic . 0.342441 . . . . . . . . 0.3197 . 0 +1 116260532 CASQ2 A T 134 0.642772 0.5360 . MedGen:C2677794,OMIM:611938|MedGen:CN169374 Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified Benign Name\x3dENSR00000369737|Enhancer . . 0.5446 . intronic . 0.573414 . . . . . . . . 0.5505 Name\x3d98.848888 -2 +1 116260544 CASQ2 C T 74 0.250799 0.2373 . . . . Name\x3dENSR00000369737|Enhancer . . 0.2309 . intronic . 0.231912 . . . . . . . . 0.2274 Name\x3d98.991300 2 +1 116260604 CASQ2 G A 134 0.630591 0.5365 . . . . Name\x3dENSR00000369737|Enhancer . . . . intronic . 0.111221 . . . . . . . . . Name\x3d97.371601 2 +1 116268154 CASQ2 C T 1 0.000399361 . 5.979 MedGen:CN169374 not_specified Uncertain_significance . . . 9.216e-05 nonsynonymous_SNV exonic . 7.76e-05 T . . . B D . . . Name\x3d99.915304 8 +1 116268178 CASQ2 GAA G 117 0.505391 0.5078 . MedGen:CN169374 not_specified Benign . . . 0.1112 . intronic . 0.0001552 . . . . . . . . . Name\x3d99.780676 1 +1 116268283 CASQ2 C T 129 0.567292 0.5282 . . . . . . . . . intronic . 0.548025 . . . . . . . . . Name\x3d95.605143 1 +1 116269560 CASQ2 C T 1 0.000199681 0.0001 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d98.652906 5 +1 116275561 CASQ2 G C 1 0.000399361 0.0006 5.974 MedGen:C0344432|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Ventricular_tachycardia,_polymorphic|Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0010 nonsynonymous_SNV exonic . 0.0006986 D . . . D D . . 0.0010 Name\x3d99.855039 17 +1 116283343 CASQ2 A G 188 0.64357 0.8592 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified Benign . . . 0.8695 . intronic . 0.785559 . . . . . . 0.0183 0.076 0.8780 Name\x3d99.773890 -7 +1 116283526 CASQ2 G A 188 0.64357 0.8592 . . . . . . . . . intronic . 0.157837 . . . . . . . . . Name\x3d97.990499 1 +1 116310943 CASQ2 C A 1 0.000199681 . 11.767 . . . Name\x3dENSR00000369751|Promoter . . 1.84e-05 stopgain exonic . 1.29e-05 . . Name\x3dOREG1489157|N/A|EGR1|PAZAR . . . . . . Name\x3d99.870293 15 +1 116310967 CASQ2 T C 79 0.401158 0.2586 -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 Name\x3dENSR00000369751|Promoter . . 0.2848 nonsynonymous_SNV exonic rs4074536|QRS-duration|0.33213338|2E-11|PMID:30012220 0.320132 T . Name\x3dOREG1489157|N/A|EGR1|PAZAR . B T . . 0.2891 Name\x3d99.668376 -2.5 +1 116311198 CASQ2 T C 214 0.96246 0.9993 . . . . Name\x3dENSR00000369751|Promoter . . 0.9991 . UTR5 . 0.955673 . . Name\x3dOREG1489157|N/A|EGR1|PAZAR . . . . . 0.9994 Name\x3d97.930141 3 +1 147230217 GJA5 T C 167 0.880391 0.7750 . . . . . . . . . UTR3 . 0.163019 . . . . . . . . . . -2 +1 147230978 GJA5 G A 3 0.0163738 0.0050 . MedGen:C3279693,OMIM:614049|MedGen:C3468561,Orphanet:ORPHA334|MedGen:C4551959,OMIM:108770 Atrial_fibrillation,_familial,_11|Familial_atrial_fibrillation|Atrial_standstill_1 Benign/Likely_benign . . . 0.0071 synonymous_SNV exonic . 0.0088162 . . . . . . . . 0.0064 Name\x3d98.569602 -5 +1 156084760 LMNA C T 2 0.00678914 0.0115 . 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:C0270914,Orphanet:ORPHA64746|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:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Primary_dilated_cardiomyopathy|Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign Name\x3dENSR00000014148|Promoter . . 0.0405 synonymous_SNV exonic . 0.0088873 . . Name\x3dOREG1888508|N/A|STAT1|PAZAR,OREG1228955|N/A|SMARCA4|PAZAR,OREG1259368|N/A|SMARCA4|PAZAR . . . . . 0.0126 Name\x3d99.741400 1 +1 156104292 LMNA G A 5 0.00798722 0.0078 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|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:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|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 . 0.0089973 . . . . . . . . 0.0073 Name\x3d99.637898 9 +1 156104375 LMNA G T 3 0.077476 0.0226 . . . . . . . . . intronic . 0.007335 . . . . . . . . . Name\x3d96.702863 1 +1 156104392 LMNA C T 3 0.0750799 0.0227 . . . . . . . . . intronic . 0.007018 . . . . . . . . . Name\x3d96.072802 1 +1 156104659 LMNA C T 1 0.000199681 . 4.678 . . . . . Name\x3dMIMAT0004687|hsa-miR-371a-5p|Experimental . nonsynonymous_SNV exonic . 1.29e-05 D . . . B T . . . Name\x3d99.613897 6 +1 156105028 LMNA T C 32 0.193091 0.0701 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|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:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign . . Name\x3dMIMAT0000071|hsa-miR-17-3p|Experimental 0.0717 synonymous_SNV exonic . 0.106389 . . . . . . . . 0.0751 Name\x3d99.584850 -2 +1 156105928 LMNA G A 31 0.192292 0.0692 . 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 . . . 0.0708 . intronic . 0.10364 . . . . . . . . 0.0748 Name\x3d99.059805 -1 +1 156105961 LMNA C T 3 0.00219649 0.0133 . MedGen:C0270914,Orphanet:ORPHA64746|MedGen:CN169374|MedGen:CN517202 Charcot-Marie-Tooth_disease,_type_2|not_specified|not_provided Benign . . . 0.0109 . intronic . 0.0079624 . . . . . . . . 0.0069 Name\x3d98.499001 1 +1 156106185 LMNA T C 31 0.249201 0.0703 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|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:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|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|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign . . . 0.0977 synonymous_SNV exonic . 0.120911 . . . . . . . . 0.0760 Name\x3d99.702397 -3 +1 156106863 LMNA C T 31 0.182308 0.0697 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0713 . intronic . 0.102677 . . . . . . . . 0.0751 Name\x3d97.631424 1 +1 156107470 LMNA G A 1 0.000199681 0.0006 4.275 Human_Phenotype_Ontology:HP:0009830,MedGen:C0031117,Orphanet:ORPHA98496|MedGen:C0270914,Orphanet:ORPHA64746|MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Peripheral_neuropathy|Charcot-Marie-Tooth_disease,_type_2|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 nonsynonymous_SNV exonic . 0.0001358 D . . . D T . . 0.0004 Name\x3d99.670614 14 +1 156107534 LMNA C T 45 0.220248 0.2487 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|MedGen:C0270914,Orphanet:ORPHA64746|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:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease,_type_2|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|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign . . . 0.2886 synonymous_SNV exonic . 0.116195 . . . . . . . . 0.2531 Name\x3d99.674683 -3 +1 156108325 LMNA G A 1 0.000199681 6.483e-05 7.313 MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348|MedGen:CN517202 Familial_partial_lipodystrophy_2|not_provided Pathogenic . . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1498572|N/A|EGR1|PAZAR . D D . . . Name\x3d99.626187 12 +1 156108610 LMNA G T 2 0.000998403 0.0018 . . . . . . . . . intronic . 0.0002717 . . Name\x3dOREG1498572|N/A|EGR1|PAZAR . . . . . . Name\x3d97.866814 4 +1 156108976 LMNA G C 32 0.185304 0.0696 . MedGen:CN517202 not_provided not_provided . . . . . UTR3 . 0.0188031 . . . . . . . . 0.0773 Name\x3d99.120371 1 +1 156109536 LMNA G A 4 0.00319489 0.0109 . . . . . . . 0.0192 . UTR3 . 0.0024126 . . . . . . . . . Name\x3d99.321233 1 +1 162257246 NOS1AP A G 2 0.00599042 0.0131 . . . . . . . 0.0177 . intronic . 0.0117916 . . . . . . . . 0.0174 . -2 +1 162270589 NOS1AP T C 1 0.000199681 . . . . . Name\x3dENSR00000375341|Enhancer . . . . intronic . 3.84e-05 . . . . . . . . . . 3 +1 162302846 NOS1AP C T 2 0.00319489 0.0049 . MedGen:CN517202 not_provided Benign . . . 0.0042 synonymous_SNV exonic . 0.0033764 . . . . . . . . 0.0041 Name\x3d98.165457 1 +1 162313597 NOS1AP T C 208 0.925919 0.9815 . . . . . . . 0.9796 . intronic . 0.947808 . . . . . . . . 0.9816 . -2 +1 162313735 NOS1AP C T 74 0.430911 0.3649 . . . . . . . 0.3669 synonymous_SNV exonic . 0.397168 . . . . . . . . 0.3571 Name\x3d97.807592 -1 +1 162324934 NOS1AP G T 1 0.000998403 6.487e-05 . . . . . . . 1.843e-05 . intronic . 0.0003169 . . . . . . . . . . 0 +1 162325172 NOS1AP T G 1 0.000199681 0.0003 . . . . . . . 0.0003 . intronic . 0.000207 . . . . . . . . 0.0005 . 0 +1 162326755 NOS1AP G A 1 0.000599042 0.0003 . . . . . . . 7.363e-05 synonymous_SNV exonic . 0.00011 . . . . . . . . 0.0002 Name\x3d96.457502 1 +1 162326851 NOS1AP C T 1 0.00159744 0.0082 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Likely_benign . . . 0.0092 synonymous_SNV exonic . 0.0059378 . . . . . . . . 0.0073 Name\x3d98.477502 -1 +1 162335256 NOS1AP C T 37 0.250799 0.1074 . . . . Name\x3dENSR00000932148|Enhancer . . 0.1186 synonymous_SNV exonic . 0.166621 . . . . . . . . 0.1199 Name\x3d97.930348 0 +1 162335289 NOS1AP G A 1 0.000199681 . 3.967 . . . Name\x3dENSR00000932148|Enhancer . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B D . . . Name\x3d98.122376 4 +1 162335424 NOS1AP T C 176 0.719249 0.8913 . . . . . . . . . intronic . 0.162191 . . . . . . . . . . -2 +1 201328267 TNNT2 G A 3 0.00678914 0.0282 . . . . . . . . . UTR3 . 0.0031371 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.0270 Name\x3d98.232803 2 +1 201328272 TNNT2 C T 7 0.00738818 0.0244 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . . . UTR3 . 0.003564 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.0330 Name\x3d97.895900 0 +1 201328301 TNNT2 G A 1 0.00159744 0.0005 . . . . . . . 0.0008 . UTR3 . 0.0012031 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.0003 Name\x3d95.543918 4 +1 201328329 TNNT2 G A 1 0.000199681 . . . . . . . . 5.033e-05 . UTR3 . 2.59e-05 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.0001 . 5 +1 201328348 TNNT2 C A 1 0.000199681 . 8.083 . . . Name\x3dENSR00000935437|Enhancer . . 2.359e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . D D . . . Name\x3d99.903008 10 +1 201328705 TNNT2 G A 10 0.0113818 0.0263 . . . . . . . 0.0384 . intronic rs45576635|Neurofibrillary-tangles|1.1179|9E-6|PMID:25188341 0.0193788 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.0283 Name\x3d96.534858 2 +1 201328824 TNNT2 G A 23 0.277157 0.0993 . MedGen:CN169374 not_specified Benign . . . 0.1404 . intronic . 0.132896 . . Name\x3dOREG1195219|N/A|TFAP2C|PAZAR . . . . . 0.1020 Name\x3d97.174482 2 +1 201328913 TNNT2 G C 23 0.277955 0.0988 . . . . . . . . . intronic . 0.152144 . . . . . . . . . . 0 +1 201330429 TNNT2 T C 5 0.0974441 0.0179 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 . . . 0.0168 nonsynonymous_SNV exonic . 0.047024 T . . . B T . . 0.0148 Name\x3d99.885874 0.5 +1 201330583 TNNT2 A G 12 0.170927 0.1028 . . . . . . . . . intronic . 0.003112 . . . . . . . . . Name\x3d99.196602 1 +1 201331240 TNNT2 C T 1 0.0341454 0.0005 . . . . . . . 0.0007 nonsynonymous_SNV exonic . 0.0091719 . . . . . . . . . Name\x3d99.348823 2.5 +1 201331335 TNNT2 A G 12 0.165535 0.1032 . . . . . . . . . intronic . 0.0212546 . . . . . . . . 0.1018 Name\x3d98.670438 1 +1 201331379 TNNT2 T C 12 0.165335 0.1030 . . . . . . . . . intronic . 0.0238677 . . . . . . . . . Name\x3d97.911480 1 +1 201334382 TNNT2 G A 160 0.695088 0.7215 . 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 . . . 0.7150 synonymous_SNV exonic . 0.712837 . . . . . . . . 0.7184 Name\x3d99.912799 -1 +1 201334795 TNNT2 C T 23 0.0824681 0.0613 . 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 . . . 0.0626 synonymous_SNV exonic . 0.0622954 . . . . . . . . 0.0634 Name\x3d99.887891 -1 +1 201335899 TNNT2 C T 214 0.98143 0.9995 . . . . . . . . . intronic . 0.947287 . . . . . . . . 0.9991 . 0 +1 201336984 TNNT2 C T 97 0.285543 0.4637 . MedGen:CN169374 not_specified Benign . . . 0.4556 . intronic . 0.389284 . . . . . . . . 0.4466 Name\x3d98.303597 1 +1 201337340 TNNT2 G T 1 0.000199681 . -0.485 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B T . . . Name\x3d99.438160 5 +1 201338553 TNNT2 T C 160 0.734625 0.7233 . . . . . . . . . intronic . 0.0237821 . . . . . . . . 0.7219 Name\x3d98.438366 1 +1 201338586 TNNT2 A G 137 0.519169 0.6265 . . . . . . . . . intronic . 0.0995653 . . . . . . . . . . 0 +1 201338896 TNNT2 T C 137 0.529952 0.6267 . . . . . . . 0.6176 . intronic . 0.0034088 . . . . . . . . 0.6210 Name\x3d96.452912 1 +1 201339043 TNNT2 C T 142 0.536142 0.6338 . . . . . . . . . intronic . 0.115717 . . . . . . . . 0.6332 Name\x3d95.498272 1 +1 201339044 TNNT2 G A 12 0.0678914 0.0995 . . . . . . . . . intronic . 0.0184409 . . . . . . . . 0.1009 Name\x3d95.498272 1 +1 201341175 TNNT2 CAGAAG C 137 0.520367 0.6186 . . . . . . . 0.6146 . intronic . 0.0179364 . . . . . . . . . Name\x3d99.766280 1 +1 201341341 TNNT2 C T 161 0.771765 0.7269 . . . . . . . . . intronic . 0.141499 . . . . . . . . 0.7244 Name\x3d96.472642 1 +1 227069677 PSEN2 T C 169 0.735623 0.7630 . MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.7835 synonymous_SNV exonic . 0.755857 . . . . . . . . 0.7801 Name\x3d99.219904 -1 +1 227069737 PSEN2 C T 141 0.443291 0.5185 . 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 . . . 0.5458 synonymous_SNV exonic . 0.494392 . . . . . . . . 0.5388 Name\x3d98.315941 -1 +1 227071364 PSEN2 G A 141 0.443291 0.5187 . . . . . . . 0.5468 . intronic . 0.473131 . . . . . . . . 0.5378 . 0 +1 227071377 PSEN2 T C 168 0.624401 0.7604 . . . . . . . 0.7805 . intronic . 0.695211 . . . . . . . . 0.775 . 0 +1 227071383 PSEN2 C T 1 0.0219649 0.0014 . . . . . . . 0.0037 . intronic . 0.0099611 . . . . . . . . 0.0026 . 0 +1 227071449 PSEN2 G A 1 0.0179712 0.0015 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 . 0.0091267 D . . . B T . . 0.0026 Name\x3d99.143693 -1 +1 227071475 PSEN2 C T 1 0.00139776 0.0047 5.492 MedGen:CN169374 not_specified Likely_benign . . . 0.0038 nonsynonymous_SNV exonic . 0.003053 D . . . P D . . 0.0037 Name\x3d99.227454 6 +1 227071525 PSEN2 C T 141 0.443291 0.5191 . 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 . . . 0.5452 synonymous_SNV exonic . 0.496235 . . . . . . . . 0.5395 Name\x3d99.494062 -1 +1 227071564 PSEN2 C T 2 0.000399361 . . . . . . . . 7.361e-05 synonymous_SNV exonic . 0.00011 . . . . . . . . . Name\x3d99.338584 5 +1 227073410 PSEN2 G C 169 0.735623 0.7633 . . . . . . . 0.7840 . intronic . 6.5e-06 . . . . . . . . 0.78 . 0 +1 227073420 PSEN2 G A 1 0.000998403 0.0023 . . . . . . . 0.0025 . intronic . 0.0016688 . . . . . . . . 0.0033 . 2 +1 227075920 PSEN2 A G 2 0.00419329 0.0209 . . . . . . . . . intronic . 0.0016365 . . . . . . . . 0.0113 . 0 +1 227075939 PSEN2 C T 4 0.00838658 0.0184 . . . . . . . . . intronic . 0.0174043 . . . . . . . . . . 0 +1 227076653 PSEN2 C G 1 0.000199681 0.0004 . MedGen:CN043596|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant Uncertain_significance . . . 0.0003 synonymous_SNV exonic . 0.0002523 . . . . . . . . 0.0007 Name\x3d99.370835 3 +1 227076671 PSEN2 T C 5 0.0291534 0.0055 . MedGen:CN043596|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0064 synonymous_SNV exonic . 0.0127941 . . . . . . . . 0.0073 Name\x3d99.319730 -1 +1 227078955 PSEN2 T C 169 0.722843 0.7634 . . . . . . . 0.7893 . intronic . 0.741077 . . . . . . . . 0.7797 . 0 +1 227081850 PSEN2 G A 146 0.574081 0.5395 . . . . . . . 0.5714 . intronic . 0.556481 . . . . . . . . 0.5608 . 0 +1 228399482 na C G 143 0.721046 0.6102 . . . . . . . 0.6195 . ncRNA_intronic . 0.576681 . . Name\x3dOREG1507123|N/A|EGR1|PAZAR . . . . . 0.6129 Name\x3d98.339343 0 +1 228399519 OBSCN T A 1 0.00179712 0.0046 3.232 MedGen:CN517202 not_provided Uncertain_significance . . . 0.0074 nonsynonymous_SNV exonic . 0.0034088 D . Name\x3dOREG1507123|N/A|EGR1|PAZAR . D T . . 0.0057 Name\x3d98.767242 7 +1 228399671 OBSCN G A 2 0.0245607 0.0016 4.150 . . . . . . 0.0035 nonsynonymous_SNV exonic . 0.0085769 T . Name\x3dOREG1507123|N/A|EGR1|PAZAR . P T . . 0.0018 Name\x3d99.227586 3.5 +1 228399766 OBSCN T C 143 0.726238 0.6103 . . . . . . . 0.6251 synonymous_SNV exonic . 0.445602 . . Name\x3dOREG1507123|N/A|EGR1|PAZAR . . . . . 0.6178 Name\x3d98.799616 2 +1 228399799 OBSCN C T 3 0.0507188 0.0477 . . . . . . . 0.0467 synonymous_SNV exonic . 0.0192236 . . Name\x3dOREG1507123|N/A|EGR1|PAZAR . . . . . 0.037 Name\x3d98.686199 2 +1 228401183 OBSCN G C 1 0.000998403 0.0002 4.903 . . . Name\x3dENSR00000021279|Promoter . . 0.0003 nonsynonymous_SNV exonic . 0.0004528 D . Name\x3dOREG1850440|N/A|RB1|PAZAR,OREG1507123|N/A|EGR1|PAZAR,OREG1820737|N/A|RBL2|PAZAR . D T . . . Name\x3d99.127294 8 +1 228401329 OBSCN C T 1 0.00339457 0.0066 . . . . Name\x3dENSR00000021279|Promoter . . 0.0144 synonymous_SNV exonic . 0.0032147 . . Name\x3dOREG1820737|N/A|RBL2|PAZAR,OREG1507123|N/A|EGR1|PAZAR . . . . . 0.0074 Name\x3d98.907049 3 +1 228402047 OBSCN A G 143 0.719848 0.6102 . . . . Name\x3dENSR00000021279|Promoter . . 0.6125 synonymous_SNV exonic . 0.0035899 . . Name\x3dOREG1507123|N/A|EGR1|PAZAR . . . . . 0.6095 Name\x3d97.279925 3 +1 228402097 OBSCN C G 1 0.000199681 . 3.698 . . . Name\x3dENSR00000021279|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1507123|N/A|EGR1|PAZAR . P T . . . Name\x3d97.294174 7 +1 228402121 OBSCN A G 142 0.719649 0.6108 3.331 . . . Name\x3dENSR00000021279|Promoter . . 0.6122 nonsynonymous_SNV exonic . 0.638129 T . Name\x3dOREG1507123|N/A|EGR1|PAZAR . B T . . 0.6065 Name\x3d97.607743 4.5 +1 228402508 OBSCN C T 70 0.275759 0.3886 . . . . . . . 0.4010 synonymous_SNV exonic . 0.339226 . . . . . . . . 0.3900 . 0 +1 228402639 OBSCN C T 1 0.000199681 . . . . . . . . 1.88e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . . 4 +1 228403476 OBSCN C G 1 0.000199681 0.0001 -1.394 . . . . . . 0.0002 nonsynonymous_SNV exonic . 7.12e-05 T . Name\x3dOREG1507134|N/A|EGR1|PAZAR . B T . . . Name\x3d95.715202 7.5 +1 228403500 OBSCN A C 1 0.000199681 . 0.728 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1507134|N/A|EGR1|PAZAR . B T . . . . 6.5 +1 228404198 OBSCN G A 3 0.0535144 0.0462 . . . . . . . 0.0954 synonymous_SNV exonic . 0.0294563 . . . . . . . . 0.0367 Name\x3d95.581921 1 +1 228404305 OBSCN G A 1 0.00279553 0.0086 -0.246 . . . . . . 0.0186 nonsynonymous_SNV exonic . 0.0049935 T . Name\x3dOREG1507133|N/A|EGR1|PAZAR . B T . . 0.0084 . 2.5 +1 228404368 OBSCN G A 1 0.000998403 0.0017 0.297 . . . . . . 0.0074 nonsynonymous_SNV exonic . 0.0014101 T . Name\x3dOREG1507133|N/A|EGR1|PAZAR . B T . . 0.0019 . 4.5 +1 228404668 OBSCN T C 74 0.336462 0.3960 . . . . . . . 0.4056 . intronic . 0.341697 . . Name\x3dOREG1507133|N/A|EGR1|PAZAR . . . . . 0.3954 . 1 +1 228404901 OBSCN G A 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1507133|N/A|EGR1|PAZAR . . . . . . . 5 +1 228404997 OBSCN C T 6 0.0169728 0.0417 . . . . . . . 0.0403 . intronic . 0.0304783 . . Name\x3dOREG1507133|N/A|EGR1|PAZAR . . . . . 0.0401 . 1 +1 228407010 OBSCN C T 72 0.285343 0.3852 . . . . . . . 0.4492 . intronic . 0.322253 . . . . . . . . . . 0 +1 228407059 OBSCN G T 5 0.0135783 0.0374 . . . . . . . 0.0372 synonymous_SNV exonic . 0.0252843 . . . . . . . . . . 0 +1 228407260 OBSCN G A 72 0.277157 0.3848 . . . . . . . 0.4159 synonymous_SNV exonic . 0.319084 . . . . . . . . . . 0 +1 228407265 OBSCN G A 1 0.0429313 0.0338 0.971 . . . . . . 0.0363 nonsynonymous_SNV exonic . 0.0318237 . . . . . . . . . . 1.5 +1 228407285 OBSCN C T 2 0.0307508 0.0018 3.265 . . . . . . 0.0035 nonsynonymous_SNV exonic . 0.010388 . . . . . . . . . . 1.5 +1 228412106 OBSCN T C 75 0.412141 0.3910 . . . . . . . . . intronic . 0.077347 . . . . . . . . . . 0 +1 228412227 OBSCN T C 75 0.41254 0.3887 . . . . . . . 0.3911 synonymous_SNV exonic . 0.0004722 . . . . . . . . . . 0 +1 228412228 OBSCN G A 73 0.284145 0.3841 2.136 . . . . . . 0.3853 nonsynonymous_SNV exonic . 0.325927 T . . . B D . . . . 0 +1 228412308 OBSCN G A 75 0.41254 0.3940 . . . . . . . 0.3930 synonymous_SNV exonic . 0.394186 . . . . . . . . 0.3925 . 0 +1 228412415 OBSCN C T 1 0.000399361 0.0001 1.038 . . . . . . 0.0003 nonsynonymous_SNV exonic . 0.0002458 T . . . B T . . 0.0002 . 5.5 +1 228431095 OBSCN A G 122 0.616613 0.6897 . . . . . . . 0.6811 synonymous_SNV exonic . 0.640968 . . . . . . . . 0.6828 . 0 +1 228431930 OBSCN C T 122 0.616813 0.6902 . . . . . . . . . intronic . 0.128588 . . Name\x3dOREG1925937|N/A|TRIM28|PAZAR . . . . . . . 1 +1 228432061 OBSCN C T 2 0.000599042 0.0045 . . . . . . . 0.0018 synonymous_SNV exonic . 0.0001423 . . Name\x3dOREG1925937|N/A|TRIM28|PAZAR . . . . . . . 3 +1 228432264 OBSCN A T 11 0.0171725 0.0385 0.066 . . . . . . 0.0430 nonsynonymous_SNV exonic . 0.031345 T . . . B T . . 0.0401 . 1.5 +1 228432323 OBSCN T C 2 0.0832668 0.0034 . . . . . . . . . intronic . 0.0052845 . . . . . . . . 0.0055 . 0 +1 228433171 OBSCN C T 1 0.000798722 0.0005 0.182 . . . . . . 0.0009 nonsynonymous_SNV exonic . 0.0007762 T . . . P T . . 0.0005 . 3.5 +1 228433217 OBSCN A G 122 0.616613 0.6899 . . . . . . . 0.6808 synonymous_SNV exonic . 0.639436 . . . . . . . . 0.6825 . 0 +1 228433346 OBSCN C T 2 0.0587061 0.0029 . . . . . . . 0.0039 synonymous_SNV exonic . 0.0238936 . . . . . . . . 0.0028 . 0 +1 228434395 OBSCN T C 122 0.617612 0.6896 . . . . . . . 0.6809 synonymous_SNV exonic . 0.641861 . . . . . . . . 0.6833 . 0 +1 228434467 OBSCN T C 122 0.66254 0.6904 . . . . . . . 0.6816 synonymous_SNV exonic . 0.658174 . . . . . . . . 0.6824 . 0 +1 228437603 OBSCN T C 122 0.663738 0.6898 . . . . . . . . . intronic . 0.131396 . . . . . . . . . . 0 +1 228437772 OBSCN G A 2 0.0611022 0.0026 . . . . . . . 0.0028 synonymous_SNV exonic . 0.0238613 . . . . . . . . 0.0025 Name\x3d95.088721 1 +1 228444297 OBSCN T G 69 0.159744 0.3405 . . . . . . . . . intronic . 0.0563317 . . Name\x3dOREG1507131|N/A|EGR1|PAZAR . . . . . . . 2 +1 228444318 OBSCN T G 122 0.617013 0.6893 . . . . . . . 0.6815 . intronic . 0.635128 . . Name\x3dOREG1507131|N/A|EGR1|PAZAR . . . . . 0.6821 . 1 +1 228444419 OBSCN C T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1507131|N/A|EGR1|PAZAR . . . . . . . 5 +1 228444565 OBSCN T A 214 1 1 0.030 . . . . . . 1 nonsynonymous_SNV exonic . 0.0050646 T . . . B T . . . . 1.5 +1 228447463 OBSCN G A 2 0.00239617 0.0104 0.355 . . . . . . 0.0136 nonsynonymous_SNV exonic . 0.0078783 T . . . . . . . 0.0110 . 1.5 +1 228447513 OBSCN T G 71 0.296925 0.3845 . . . . . . . 0.3841 . intronic . 0.346076 . . . . . . . . 0.3890 . 0 +1 228447519 OBSCN T A 71 0.296925 0.3846 . . . . . . . 0.3838 . intronic . 0.34519 . . . . . . . . 0.3890 . 0 +1 228451826 OBSCN C T 51 0.30631 0.2998 0.352 . . . . . . 0.2937 nonsynonymous_SNV exonic . 0.279912 T . . . B T . . 0.2810 . 1.5 +1 228451941 OBSCN C T 3 0.00439297 0.0053 . . . . . . . 0.0066 synonymous_SNV exonic . 0.0054527 . . . . . . . . 0.0044 Name\x3d95.455630 7 +1 228452016 OBSCN G C 1 0.00399361 0.0184 -1.319 . . . . . . 0.0190 nonsynonymous_SNV exonic . 0.0134345 T . . . B T . . 0.0195 . 1.5 +1 228452032 OBSCN G A 2 0.0571086 0.0032 3.095 . . . . . . 0.0044 nonsynonymous_SNV exonic . 0.0242106 T . . . P T . . 0.0044 . 1.5 +1 228456294 OBSCN C G 1 0.000399361 . 2.128 . . . . . . 1.918e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d97.960017 6.5 +1 228456295 OBSCN C G 1 0.000399361 . . . . . . . . . synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d97.960017 5 +1 228456296 OBSCN A G 1 0.000399361 . 3.369 . . . . . . . nonsynonymous_SNV exonic . 1.29e-05 D . . . D T . . . Name\x3d97.960017 8 +1 228461097 OBSCN C G 3 0.00219649 0.0097 1.035 . . . . . . 0.0081 nonsynonymous_SNV exonic . 0.0049999 T . . . . . . . . Name\x3d96.432207 8.5 +1 228461129 OBSCN A G 125 0.69349 0.7084 -0.541 . . . . . . 0.6992 nonsynonymous_SNV exonic . 0.680023 T . . . . . . . 0.6953 . 1.5 +1 228461187 OBSCN T C 4 0.00958466 0.0201 . . . . . . . 0.0228 synonymous_SNV exonic . 0.0164875 . . . . . . . . 0.0250 . 0 +1 228461408 OBSCN A AGGG 214 0.999201 . . . . . . . . . . intronic . 0.032367 . . . . . . . . . . 0 +1 228461504 OBSCN G A 1 0.00139776 0.0008 0.409 . . . . . . 0.0011 nonsynonymous_SNV exonic . 0.0010608 T . . . D T . . 0.0019 Name\x3d95.629023 3 +1 228461757 OBSCN G A 33 0.206669 0.1770 . . . . . . . 0.1905 . intronic . 0.184163 . . . . . . . 0.002 0.1774 . 0 +1 228462520 OBSCN C T 1 0.00179712 0.0006 . . . . . . . 0.0007 synonymous_SNV exonic . 0.0008473 . . . . . . . . 0.0002 . 2 +1 228462570 OBSCN C T 1 0.00159744 0.0077 . . . . . . . 0.0104 . intronic . 0.0049223 . . . . . . . . 0.0101 . 0 +1 228463425 OBSCN A G 1 0.00279553 . . . . . Name\x3dENSR00000021285|Promoter . . . . intronic . 9.06e-05 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . . 4 +1 228463433 OBSCN C T 47 0.258786 0.2970 . . . . Name\x3dENSR00000021285|Promoter . . 0.3481 . intronic . 0.129487 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . 0.2507 . 2 +1 228463763 OBSCN G A 1 0.000399361 . . . . . Name\x3dENSR00000021285|Promoter . . 0.0004 . intronic . 3.88e-05 . . Name\x3dOREG1135426|N/A|ZNF263|JASPAR,OREG1945738|N/A|ZNF263|PAZAR,OREG1820739|N/A|RBL2|PAZAR,OREG1840839|N/A|RB1|PAZAR,OREG1850441|N/A|RB1|PAZAR . . . . . . . 6 +1 228463774 OBSCN G T 3 0.00279553 0.0067 . . . . Name\x3dENSR00000021285|Promoter . . 0.01 . intronic . 0.0021474 . . Name\x3dOREG1840839|N/A|RB1|PAZAR,OREG1820739|N/A|RBL2|PAZAR,OREG1945738|N/A|ZNF263|PAZAR,OREG1135426|N/A|ZNF263|JASPAR,OREG1850441|N/A|RB1|PAZAR . . . . . 0.0048 . 8 +1 228464100 OBSCN G A 33 0.207069 0.1768 . . . . Name\x3dENSR00000021285|Promoter . . . . intronic . 0.035116 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . . 2 +1 228464141 OBSCN T G 1 0.000199681 . . . . . Name\x3dENSR00000021285|Promoter . . 1.936e-05 . intronic . 1.29e-05 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . 0.7406 0.61 . . 7 +1 228464248 OBSCN T G 125 0.695487 0.7106 -0.460 . . . Name\x3dENSR00000021285|Promoter . . 0.7018 nonsynonymous_SNV exonic . 0.660729 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . B T . . 0.6965 Name\x3d96.060850 4.5 +1 228464255 OBSCN T C 3 0.00259585 0.0101 4.777 . . . Name\x3dENSR00000021285|Promoter . . 0.0119 nonsynonymous_SNV exonic . 0.0068498 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . D D . . 0.0109 . 5 +1 228464276 OBSCN T C 125 0.663538 0.7101 -0.742 . . . Name\x3dENSR00000021285|Promoter . . 0.7011 nonsynonymous_SNV exonic . 0.648944 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . B T . . 0.6960 . 3.5 +1 228464303 OBSCN G T 1 0.00459265 0.0268 1.771 . . . Name\x3dENSR00000021285|Promoter . . 0.0283 nonsynonymous_SNV exonic . 0.0173413 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . P T . . 0.0278 . 3.5 +1 228464385 OBSCN G A 1 0.000199681 . 3.941 . . . Name\x3dENSR00000021285|Promoter . . 4.08e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . D T . . . Name\x3d95.630039 7 +1 228464440 OBSCN C T 1 0.000199681 0.0012 . . . . Name\x3dENSR00000021285|Promoter . . 0.0011 . intronic . 0.0002975 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . 0.0005 . 4 +1 228464759 OBSCN C T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . . 5 +1 228464842 OBSCN C G 124 0.69369 0.7040 . . . . . . . 0.7177 . intronic . 0.594837 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . 0.6953 . 1 +1 228464899 OBSCN C T 1 0.000199681 . . . . . . . . 0.0002 synonymous_SNV exonic . 7.76e-05 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . . 5 +1 228464937 OBSCN G A 1 0.000199681 . 0.694 . . . . . . 6.789e-05 nonsynonymous_SNV exonic . 2.59e-05 T . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . P T . . 0.0001 . 6.5 +1 228465346 OBSCN A G 74 0.330072 0.3808 3.591 . . . . . . 0.5264 nonsynonymous_SNV exonic . 0.303961 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . Name\x3d96.173877 3.5 +1 228465370 OBSCN T G 128 0.669529 0.7128 . . . . . . . 0.7387 . intronic . 0.655761 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . 0.0001 0.002 . Name\x3d96.973539 2 +1 228465403 OBSCN G T 11 0.102835 0.0606 . . . . . . . 0.0682 . intronic . 0.0737959 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . . . 1 +1 228465426 OBSCN C T 1 0.000399361 0.0016 . . . . . . . 0.0025 . intronic . 0.0017982 . . Name\x3dOREG1945738|N/A|ZNF263|PAZAR . . . . . 0.0030 . 3 +1 228466819 OBSCN C T 11 0.0167732 0.0378 . . . . . . . . . intronic . 0.0058149 . . Name\x3dOREG1507130|N/A|EGR1|PAZAR . . . . . . . 1 +1 228466843 OBSCN C T 3 0.00499201 0.0108 . . . . . . . 0.0106 . intronic . 0.0077942 . . Name\x3dOREG1507130|N/A|EGR1|PAZAR . . . . . 0.0111 . 1 +1 228466862 OBSCN C T 4 0.0421326 0.0365 . . . . . . . 0.0369 . intronic . 0.038156 . . Name\x3dOREG1507130|N/A|EGR1|PAZAR . . . . . 0.0331 . 1 +1 228467072 OBSCN C G 1 0.00299521 0.0199 . . . . . . . 0.0128 synonymous_SNV exonic . 0.0089197 . . Name\x3dOREG1507130|N/A|EGR1|PAZAR . . . . . 0.0101 . 1 +1 228467095 OBSCN T C 1 0.00219649 0.0080 2.990 . . . . . . 0.0071 nonsynonymous_SNV exonic . 0.0052328 T . Name\x3dOREG1507130|N/A|EGR1|PAZAR . D D . . 0.0089 . 6 +1 228467158 OBSCN G A 1 0.000998403 0.0032 . . . . . . . 0.0024 . intronic . 0.0014165 . . Name\x3dOREG1507130|N/A|EGR1|PAZAR . . . . . 0.0018 . 3 +1 228467642 OBSCN C T 1 0.000599042 . 3.815 . . . . . . 0.0002 nonsynonymous_SNV exonic . 0.0001358 T . . . D T . . 0.0002 . 2 +1 228467711 OBSCN G A 6 0.0836661 0.0222 3.250 . . . . . . 0.0395 nonsynonymous_SNV exonic . 0.0425803 T . . . D T . . 0.0184 . 0 +1 228467969 OBSCN G C 1 0.000998403 0.0012 4.087 . . . . . . 0.0004 nonsynonymous_SNV exonic . 0.0007503 T . . . P T . . 0.0002 Name\x3d95.194632 4.5 +1 228468179 OBSCN A C 1 0.000199681 0.0004 . . . . . . . 0.0009 . intronic . 0.0003946 . . Name\x3dOREG1945742|N/A|ZNF263|PAZAR . . . . . 0.0005 . 3 +1 228468244 OBSCN G A 6 0.113618 0.0227 . . . . . . . 0.0235 synonymous_SNV exonic . 0.0530976 . . Name\x3dOREG1945742|N/A|ZNF263|PAZAR . . . . . 0.0183 . 1 +1 228468458 OBSCN G A 54 0.31889 0.3185 1.572 . . . . . . 0.3113 nonsynonymous_SNV exonic . 0.288424 T . . . D T . . 0.2785 . 0 +1 228468566 OBSCN A G 74 0.239816 0.3703 . . . . . . . . . intronic . 0.326802 . . . . . . . . . . 0 +1 228469720 OBSCN G A 1 0.000199681 . 2.733 . . . . . . 3.697e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . D T . . . . 4 +1 228469801 OBSCN G C 8 0.0111821 0.0217 5.043 . . . . . . 0.0217 nonsynonymous_SNV exonic . 0.0150516 T . . . D D . . 0.0219 . 3 +1 228469870 OBSCN C T 6 0.0872604 0.0218 2.777 . . . . . . 0.0225 nonsynonymous_SNV exonic . 0.0446501 T . . . B T . . 0.0178 . 1.5 +1 228469903 OBSCN A T 3 0.0766773 0.0050 11.513 . . . . . . 0.0062 stopgain exonic . 0.0310604 . . . . . . . . 0.0025 . 8 +1 228469904 OBSCN G T 3 0.0766773 0.0050 3.320 . . . . . . 0.0062 nonsynonymous_SNV exonic . 0.0310798 T . . . P D 0.0006 0.052 0.0024 . 0 +1 228470995 OBSCN G T 53 0.318091 0.3179 . . . . Name\x3dENSR00000389191|TF_binding_site . . 0.3786 . intronic . 0.217817 . . Name\x3dOREG1507126|N/A|EGR1|PAZAR,OREG1945741|N/A|ZNF263|PAZAR . . . . . 0.2859 . 2 +1 228471028 OBSCN C T 1 0.000199681 . . . . . . . . 0.0002 . intronic . 1.29e-05 . . Name\x3dOREG1945741|N/A|ZNF263|PAZAR,OREG1507126|N/A|EGR1|PAZAR . . . . . . . 5 +1 228471046 OBSCN C T 70 0.147364 0.3324 . . . . . . . . . intronic . 0.268288 . . Name\x3dOREG1507126|N/A|EGR1|PAZAR,OREG1945741|N/A|ZNF263|PAZAR . . . . . . . 2 +1 228471379 OBSCN G C 75 0.230232 0.3703 . . . . . . . 0.3724 synonymous_SNV exonic . 0.318256 . . Name\x3dOREG1507126|N/A|EGR1|PAZAR . . . . . 0.3681 . 2 +1 228473733 OBSCN G A 1 0.000199681 0.0001 . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +1 228474422 OBSCN G C 1 0.00219649 0.0081 . . . . . . . . . intronic . 0.001313 . . . . . . . . . . 2 +1 228475715 OBSCN A G 4 0.00559105 0.0175 . . . . . . . 0.0176 . intronic . 0.0120374 . . . . . . . . 0.0157 . 0 +1 228475848 OBSCN G A 53 0.302716 0.3160 4.107 . . . . . . 0.3057 nonsynonymous_SNV exonic . 0.289078 T . . . P T . . 0.2973 . 1.5 +1 228476366 OBSCN G T 6 0.0958466 0.0223 2.734 . . . . . . 0.0229 nonsynonymous_SNV exonic . 0.04661 T . . . B T . . 0.0149 . 1.5 +1 228476367 OBSCN A T 6 0.0958466 0.0225 2.116 . . . . . . 0.0229 nonsynonymous_SNV exonic . 0.0466229 T . . . P T . . 0.0142 . 1.5 +1 228476390 OBSCN G A 1 0.000199681 6.484e-05 . . . . . . . 3.68e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . . . 4 +1 228476414 OBSCN G A 6 0.0938498 0.0225 . . . . . . . 0.0229 synonymous_SNV exonic . 0.0477355 . . . . . . . . 0.0186 . 0 +1 228476526 OBSCN G A 1 0.000199681 . 5.578 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . . 10 +1 228480282 OBSCN A G 134 0.698882 0.7136 . . . . . . . 0.7050 synonymous_SNV exonic . 0.684137 . . . . . . . . 0.7022 . 0 +1 228481116 OBSCN G A 1 0.000199681 . 0.259 . . . . . . 7.372e-05 nonsynonymous_SNV exonic . 7.12e-05 T . . . B T . . 0.0001 . 5.5 +1 228481382 OBSCN C T 3 0.00459265 0.0184 . . . . . . . . . intronic . 0.0018046 . . . . . . . . . . 0 +1 228481917 OBSCN G A 4 0.00878594 0.0160 . . . . . . . 0.0192 synonymous_SNV exonic . 0.0141589 . . . . . . . . 0.0229 . 0 +1 228482010 OBSCN C T 94 0.381989 0.5198 . . . . . . . 0.4965 synonymous_SNV exonic . 0.430609 . . . . . . . . 0.4953 . 0 +1 228482028 OBSCN G C 34 0.21246 0.1699 . . . . . . . 0.1850 synonymous_SNV exonic . 0.196634 . . . . . . . . 0.1766 Name\x3d95.602941 1 +1 228482059 OBSCN G A 5 0.00798722 0.0358 5.747 . . . . . Name\x3dMIMAT0000510|hsa-miR-320a-3p|Experimental 0.0321 nonsynonymous_SNV exonic . 0.0225612 T . . . D D . . 0.0421 . 4 +1 228482125 OBSCN C T 1 0.000199681 6.486e-05 . . . . . . . 9.201e-05 . intronic . 0.0001164 . . . . . . . . . . 4 +1 228482160 OBSCN C T 1 0.0225639 0.0031 . . . . . . . 0.0021 . intronic . 0.0170761 . . . . . . . . 0.0023 . 0 +1 228482569 OBSCN G A 9 0.0127796 0.0343 . . . . . . . 0.0313 synonymous_SNV exonic . 0.0214874 . . . . . . . . 0.0324 . 0 +1 228482663 OBSCN C A 1 0.000199681 . -0.373 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P T . . . . 5.5 +1 228486404 OBSCN C T 31 0.165935 0.1674 0.548 . . . . . . 0.1822 nonsynonymous_SNV exonic . 0.17633 T . . . . . . . 0.1788 . 1.5 +1 228487165 OBSCN C T 1 0.000599042 6.487e-05 . . . . . . . 5.528e-05 synonymous_SNV exonic . 5.17e-05 . . . . . . . . . . 2 +1 228491633 OBSCN G A 5 0.052516 0.0373 0.427 . . . . . . 0.0392 nonsynonymous_SNV exonic . 0.0433759 T . . . . . . . 0.0397 . 1.5 +1 228492044 OBSCN G A 97 0.369209 0.5205 . . . . . . . 0.4992 synonymous_SNV exonic . 0.427582 . . . . . . . . 0.4905 . 0 +1 228492061 OBSCN C T 1 0.000199681 6.488e-05 0.464 . . . . . . 7.421e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . . D . . . . 4 +1 228492125 OBSCN C T 1 0.000798722 0.0059 . . . . . . . 0.0039 synonymous_SNV exonic . 0.0025226 . . . . . . . . 0.0058 . 2 +1 228492220 OBSCN C T 4 0.00539137 0.0176 2.422 . . . . . . 0.0178 nonsynonymous_SNV exonic . 0.0123349 T . . . . . . . 0.0158 . 1.5 +1 228494070 OBSCN C G 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . 0.9998 0.9 . . 5 +1 228494209 OBSCN T C 1 0.000599042 0.0010 . . . . . . . 0.0016 synonymous_SNV exonic . 0.0009832 . . . . . . . . 0.0010 . 2 +1 228494346 OBSCN T C 1 0.000199681 . . . . . . . Name\x3dMIMAT0005905|hsa-miR-1254|Experimental . . intronic . 6.5e-06 . . . . . . . . . . 5 +1 228494357 OBSCN C T 31 0.166733 0.1684 . . . . . . . 0.1903 . intronic . 0.172216 . . . . . . . . 0.1716 . 0 +1 228494382 OBSCN T C,G 31 0.383387 0.5210 . . . . . . . 0.5092 . intronic . 0.401159 . . . . . . . . 0.6220 . 0 +1 228494394 OBSCN C T 1 0.00239617 0.0060 . . . . . . . . . intronic . 0.0037268 . . . . . . . . . . 2 +1 228494552 OBSCN C G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 228494696 OBSCN G A 37 0.308506 0.1927 . . . . . . . 0.2696 synonymous_SNV exonic . 0.239111 . . . . . . . . 0.1945 . 0 +1 228494790 OBSCN G A 97 0.26857 0.5198 2.944 . . . . . . 0.4980 nonsynonymous_SNV exonic . 0.393889 T . . . P T . . 0.4939 . 1.5 +1 228496014 OBSCN G A 31 0.213059 0.1706 . . . . . . . 0.2182 synonymous_SNV exonic . 0.192514 . . . . . . . . 0.1772 . 0 +1 228497053 OBSCN A G 134 0.698682 0.7142 . . . . . . . . . intronic . 0.135723 . . . . . . . . . . 0 +1 228497066 OBSCN A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 228497286 OBSCN C A 6 0.0932508 0.0225 . . . . . . . 0.0230 . intronic . 0.0477484 . . . . . . . . 0.0188 . 0 +1 228503677 OBSCN A G 134 0.700879 0.7134 -2.279 . . . . . . 0.7121 nonsynonymous_SNV exonic . 0.63267 T . . . B T . . 0.7056 . 1.5 +1 228503711 OBSCN G A 2 0.0129792 0.0431 . . . . . . . 0.0522 synonymous_SNV exonic . 0.0229945 . . . . . . . . 0.0327 Name\x3d95.031577 1 +1 228503798 OBSCN G A 1 0.000399361 . . . . . . . . 0.0002 synonymous_SNV exonic . 7.12e-05 . . . . . . . . . . 4 +1 228504373 OBSCN G A 1 0.000199681 6.494e-05 . . . . . . . 2.517e-05 . intronic . 3.23e-05 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . . . 5 +1 228504472 OBSCN T C 134 0.699281 0.7136 -1.304 . . . . . . 0.7063 nonsynonymous_SNV exonic . 0.659759 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . B T . . 0.7008 . 2.5 +1 228504507 OBSCN G T 4 0.00499201 0.0174 . . . . . . . 0.0265 synonymous_SNV exonic . 0.0137385 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . 0.0203 . 1 +1 228504591 OBSCN C A 31 0.145367 0.1683 1.476 . . . . . . 0.2717 nonsynonymous_SNV exonic . 0.142967 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . D T . . 0.1672 . 1 +1 228504669 OBSCN G A 31 0.145567 0.1727 . . . . . . . 0.2176 synonymous_SNV exonic . 0.0800054 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . 0.1453 . 1 +1 228504670 OBSCN C T 97 0.330272 0.5220 3.693 . . . . . . 0.4984 nonsynonymous_SNV exonic . 0.207882 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . B T . . 0.4398 . 2.5 +1 228504701 OBSCN G GCTCC 134 0.699081 0.7119 . . . . . . . 0.7038 . intronic . 0.0302066 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . 0.6286 . 1 +1 228505204 OBSCN G A 37 0.315296 0.1926 3.357 . . . . . . 0.2105 nonsynonymous_SNV exonic . 0.242164 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . P D . . 0.1944 . 1 +1 228505518 OBSCN C T 1 0.00159744 0.0056 . . . . . . . . . intronic . 0.0010608 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . . . 3 +1 228505668 OBSCN C G 134 0.699281 0.7136 0.755 . . . . . . 0.7049 nonsynonymous_SNV exonic . 0.684881 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . B T . . 0.7016 . 2.5 +1 228505699 OBSCN T C 134 0.705871 0.7135 . . . . . . . 0.7061 synonymous_SNV exonic . 0.004172 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . 0.7008 . 1 +1 228505725 OBSCN A C 1 0.000399361 0.0005 3.123 . . . . . . 0.0017 nonsynonymous_SNV exonic . 0.0009638 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . D D . . 0.0009 . 6 +1 228505727 OBSCN C T 6 0.086262 0.0223 2.382 . . . . . . 0.0230 nonsynonymous_SNV exonic . 0.0456721 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . B D . . 0.0186 . 1 +1 228505739 OBSCN G A 31 0.173123 0.1683 0.313 . . . . . . 0.1817 nonsynonymous_SNV exonic . 0.17992 T . Name\x3dOREG1507129|N/A|EGR1|PAZAR . B T . . 0.1735 . 2.5 +1 228505925 OBSCN G A 4 0.00519169 0.0174 . . . . . . . . . intronic . 0.0021086 . . Name\x3dOREG1507129|N/A|EGR1|PAZAR . . . . . 0.0148 . 1 +1 228506661 OBSCN G A 6 0.0107827 0.0185 . . . . . . . 0.0695 synonymous_SNV exonic . 0.0139196 . . . . . . . . 0.0230 . 0 +1 228506768 OBSCN C T 1 0.000199681 0.0007 1.693 . . . . . . 0.0003 nonsynonymous_SNV exonic . 0.0002329 T . . . B T . . 0.0005 . 3.5 +1 228506965 OBSCN C T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +1 228509367 OBSCN G A 1 0.000199681 6.482e-05 6.644 . . . . . . 0.0002 nonsynonymous_SNV exonic . 0.0002005 T . Name\x3dOREG1507127|N/A|EGR1|PAZAR . B T . . 0.0002 . 5 +1 228509427 OBSCN A G 134 0.684704 0.7137 -0.311 . . . . . . 0.7041 nonsynonymous_SNV exonic . 0.678102 T . Name\x3dOREG1507127|N/A|EGR1|PAZAR . B T . . 0.6968 . 2.5 +1 228511197 OBSCN G A 1 0.000199681 . 5.134 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D T . . . Name\x3d95.039834 8 +1 228511240 OBSCN C T 1 0.000199681 6.485e-05 . . . . . . . 0.0002 synonymous_SNV exonic . 0.0002975 . . . . . . . . 0.0002 Name\x3d95.667258 5 +1 228520538 OBSCN C T 1 0.000199681 0.0010 . . . . . . . 0.0015 . intronic . 0.0008667 . . . . . . . . 0.0013 . 2 +1 228520880 OBSCN C T 86 0.341853 0.4468 . . . . . . . 0.4582 . intronic . 0.320293 . . . . . . . . 0.4158 . 0 +1 228520973 OBSCN C G 86 0.335064 0.4465 1.995 . . . . . . 0.4687 nonsynonymous_SNV exonic . 0.282719 T . . . B T . . 0.4179 . 1.5 +1 228521002 OBSCN C A 1 0.000399361 0.0012 . . . . . . . 0.0040 synonymous_SNV exonic . 0.0005886 . . . . . . . . 0.0010 Name\x3d96.076251 3 +1 228522357 OBSCN G A 11 0.00938498 0.0228 . . . . . . . . . intronic . 0.019018 . . . . . . . . . . 0 +1 228522483 OBSCN C T 5 0.034345 0.0370 . . . . . . . 0.0498 . intronic . 0.0188807 . . . . . . . . 0.0328 . 0 +1 228522509 OBSCN C A 1 0.000199681 . . . . . . . . 0.0002 . intronic . 1.94e-05 . . . . . . 0.0045 0.144 . . 4 +1 228523005 OBSCN T TG 100 0.469449 0.6602 . . . . . . . 0.4422 . intronic . 0.0016947 . . . . . . . . 0.4253 . 0 +1 228523042 OBSCN T G,TG 100 0.344449 0.5166 . . . . . . . . . intronic . 0.0018499 . . . . . . . . 0.4471 . 0 +1 228523412 OBSCN G A 17 0.126797 0.0953 . . . . . . . . . intronic . 0.0182921 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR . . . . . . . 1 +1 228523442 OBSCN T C 103 0.478435 0.5398 . . . . . . . 0.5191 . intronic . 0.466288 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR . . . . . 0.5171 . 1 +1 228523447 OBSCN T C 175 0.813498 0.8291 . . . . . . . 0.8269 . intronic . 0.0071797 . . Name\x3dOREG1945739|N/A|ZNF263|PAZAR,OREG1507125|N/A|EGR1|PAZAR . . . . . 0.8251 . 1 +1 228523448 OBSCN G A 86 0.352636 0.4443 . . . . . . . 0.4258 . intronic . 0.347027 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR . . . . . 0.3968 . 1 +1 228523596 OBSCN G A 3 0.000998403 6.482e-05 . . . . . . . 0.0002 . intronic . 0.0001488 . . Name\x3dOREG1945739|N/A|ZNF263|PAZAR,OREG1507125|N/A|EGR1|PAZAR . . . . . 0.0001 . 7 +1 228523618 OBSCN G A 103 0.474241 0.5422 . . . . . . . . . intronic . 0.0982976 . . Name\x3dOREG1945739|N/A|ZNF263|PAZAR,OREG1507125|N/A|EGR1|PAZAR . . . . . 0.5195 . 1 +1 228523866 OBSCN C G 2 0.00119808 0.0023 . . . . . . . 0.0047 . intronic . 0.002859 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR,OREG1945739|N/A|ZNF263|PAZAR . . . . . 0.0031 . 3 +1 228524642 OBSCN T C 5 0.0353435 0.0373 . . . . . . . . . intronic . 0.0057761 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . . . 1 +1 228524671 OBSCN C T 1 0.000199681 0.0008 . . . . . . . 0.0013 . intronic . 0.0003169 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . 0.0008 . 3 +1 228524919 OBSCN G A 86 0.240016 0.4458 . . . . . . . 0.4284 . intronic . 0.348902 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . 0.4207 . 1 +1 228524961 OBSCN C A 86 0.239816 0.4461 . . . . . . . 0.4304 synonymous_SNV exonic . 0.346296 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . 0.4226 . 1 +1 228525008 OBSCN G A 25 0.0766773 0.1307 4.879 . . . . . . 0.1512 nonsynonymous_SNV exonic . 0.117198 T . Name\x3dOREG1507125|N/A|EGR1|PAZAR . B D . . 0.1356 . 2 +1 228525627 OBSCN C A 86 0.240216 0.4444 . . . . . . . 0.4571 . intronic . 0.337945 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . 0.4221 . 1 +1 228525689 OBSCN G A 1 0.000199681 0.0001 . . . . . . . 8.063e-05 synonymous_SNV exonic . 3.23e-05 . . Name\x3dOREG1507125|N/A|EGR1|PAZAR . . . . . . . 5 +1 228525799 OBSCN C A 1 0.000199681 . 16.481 . . . . . . 1.968e-05 stopgain exonic . 1.29e-05 . . . . . . . . . . 12 +1 228525823 OBSCN C T 1 0.000998403 0.0005 6.985 . . . . . . 0.0004 nonsynonymous_SNV exonic rs2760061|Cardiovascular-disease||1E-9|PMID:30595370 0.0004269 T . . . D D . . 0.0004 . 6 +1 228525898 OBSCN C G 103 0.538339 0.5457 . . . . . . . . . intronic . 0.521746 . . . . . . . . . . 0 +1 228526011 OBSCN C T 25 0.117612 0.1546 . . . . . . . 0.1765 synonymous_SNV exonic . 0.130121 . . . . . . . . 0.1578 . 0 +1 228526486 OBSCN G A 86 0.228435 0.4454 . . . . Name\x3dENSR00000389203|TF_binding_site . . . . intronic . 0.0609371 . . . . . . . . . . 1 +1 228526578 OBSCN T A 3 0.00439297 0.0107 4.894 . . . Name\x3dENSR00000389203|TF_binding_site . . 0.0142 nonsynonymous_SNV exonic . 0.0037451 T . . . P T . . 0.0095 Name\x3d96.249129 3.5 +1 228526653 OBSCN C A 1 0.00119808 0.0007 1.750 . . . Name\x3dENSR00000389203|TF_binding_site . . 0.0011 nonsynonymous_SNV exonic . 0.0005369 T . . . B T . . 0.0015 . 4.5 +1 228526665 OBSCN T C 103 0.494409 0.5435 . . . . . . . 0.5246 synonymous_SNV exonic . 0.214577 . . . . . . . . 0.5569 . 0 +1 228527685 OBSCN C T 3 0.00259585 0.0067 . MedGen:CN517202 not_provided Benign Name\x3dENSR00000938254|Enhancer,ENSR00000918313|TF_binding_site . . 0.0056 synonymous_SNV exonic . 0.004269 . . Name\x3dOREG1507126|N/A|EGR1|PAZAR . . . . . 0.0065 Name\x3d95.167062 9 +1 228527749 OBSCN C T 1 0.00858626 0.0007 7.261 . . . Name\x3dENSR00000918313|TF_binding_site,ENSR00000938254|Enhancer . . 0.0012 nonsynonymous_SNV exonic . 0.0031759 T . Name\x3dOREG1507126|N/A|EGR1|PAZAR . D D . . 0.0018 Name\x3d95.539750 8 +1 228527758 OBSCN G C 1 0.000399361 0.0003 6.172 . . . Name\x3dENSR00000938254|Enhancer,ENSR00000918313|TF_binding_site . . 0.0006 nonsynonymous_SNV exonic . 0.0004204 T . Name\x3dOREG1507126|N/A|EGR1|PAZAR . D D . . 0.0004 Name\x3d95.112814 8 +1 228527844 OBSCN T G 5 0.0297524 0.0358 . . . . Name\x3dENSR00000918313|TF_binding_site,ENSR00000938254|Enhancer . . 0.0427 . intronic . 0.0286607 . . Name\x3dOREG1507126|N/A|EGR1|PAZAR . . . . . 0.0352 . 2 +1 228528412 OBSCN G A 86 0.351837 0.4467 . . . . Name\x3dENSR00000021290|TF_binding_site . . 0.4378 . intronic . 0.371625 . . . . . . . . 0.4247 . 1 +1 228528563 OBSCN C G 103 0.538738 0.5462 0.194 . . . Name\x3dENSR00000021290|TF_binding_site . . 0.5592 nonsynonymous_SNV exonic . 0.464489 T . . . B T . . 0.5203 Name\x3d95.313182 3.5 +1 228528752 OBSCN A G 1 0.000199681 . . . . . Name\x3dENSR00000021290|TF_binding_site . . 9.071e-05 . intronic . 0.0001876 . . . . . . . . . . 5 +1 228529129 OBSCN C A 17 0.138179 0.1048 . . . . Name\x3dENSR00000021290|TF_binding_site . . 0.1113 . intronic . 0.118776 . . . . . . 0.0005 0.1 0.0945 . 1 +1 228538470 OBSCN C G 17 0.147764 0.0982 . . . . . . . . . intronic . 0.0207177 . . . . . . . . . . 0 +1 228538568 OBSCN C G 1 0.00119808 0.0022 5.894 . . . . . . 0.0035 nonsynonymous_SNV exonic . 0.0023932 T . . . D D . . 0.0041 . 5 +1 228538635 OBSCN C T 1 0.000798722 0.0009 6.415 . . . . . . 0.0008 nonsynonymous_SNV exonic . 0.0005951 D . . . D D . . 0.0006 . 8 +1 228538968 OBSCN C T 24 0.139577 0.1351 . . . . . . . . . intronic . 0.0215456 . . . . . . . . . . 0 +1 228538982 OBSCN G T 2 0.00379393 0.0055 . . . . . . . 0.0066 . intronic . 0.0029366 . . . . . . . . 0.0046 . 2 +1 228539034 OBSCN C T 1 0.000399361 0.0014 . . . . . . . 0.0034 synonymous_SNV exonic . 0.0006727 . . . . . . . . 0.0012 . 2 +1 228543800 OBSCN C T 17 0.172125 0.0985 . . . . . . . . . intronic . 0.0224577 . . . . . . . . 0.0899 . 0 +1 228547256 OBSCN G A 17 0.147564 0.0974 . . . . . . . 0.1400 . intronic . 0.0848954 . . . . . . . . 0.0836 . 0 +1 228547769 OBSCN C T 3 0.00479233 0.0110 . . . . . . . 0.0182 synonymous_SNV exonic . 0.0066623 . . . . . . . . 0.0106 . 0 +1 228547901 OBSCN C T 82 0.298722 0.2856 . . . . . . . 0.2952 synonymous_SNV exonic . 0.303088 . . . . . . . . 0.3011 . 0 +1 228548029 OBSCN C A 2 0.000399361 . 2.012 . . . . . . 1.856e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B D . . . . 4 +1 228548094 OBSCN C G 1 0.000199681 . 2.418 . . . . . . 1.873e-05 nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . . 7 +1 228548129 OBSCN T C 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . . 4 +1 228548197 OBSCN G A 17 0.147764 0.0970 -0.089 . . . . . . 0.1004 nonsynonymous_SNV exonic . 0.114714 T . . . B T . . 0.0857 . 1.5 +1 228548257 OBSCN G C 1 0.000199681 . -0.317 . . . . . . . nonsynonymous_SNV exonic . 2.59e-05 T . . . B T . . . . 5.5 +1 228548360 OBSCN G A 3 0.00199681 0.0055 . . . . . . . 0.0045 synonymous_SNV exonic . 0.0032212 . . . . . . . . 0.0055 . 6 +1 228550344 OBSCN G A 1 0.000199681 0.0006 . . . . . . . 0.0008 synonymous_SNV exonic . 0.000511 . . . . . . . . 0.0007 . 2 +1 228550426 OBSCN C T 17 0.146965 0.0970 -0.124 . . . . . . 0.1424 nonsynonymous_SNV exonic . 0.1054 T . . . B T . . 0.0834 . 1.5 +1 228550429 OBSCN C T 5 0.0443291 0.0359 0.627 . . . . . . 0.0643 nonsynonymous_SNV exonic . 0.0342557 T . . . B T . . 0.0362 . 1.5 +1 228552618 OBSCN C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 228554767 OBSCN G A 1 0.000199681 . 1.354 . . . . . . 3.06e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . . 5.5 +1 228556014 OBSCN C T 1 0.00159744 0.0011 . . . . . . . 0.0028 . intronic . 0.0011643 . . Name\x3dOREG1721719|N/A|HNF4A|PAZAR,OREG1745725|N/A|HNF4A|PAZAR . . . . . 0.0011 . 3 +1 228556403 OBSCN C T 17 0.125599 0.0975 . . . . . . . 0.0951 . intronic . 0.106493 . . . . . . . . 0.0859 . 0 +1 228556788 OBSCN C T 83 0.320487 0.3617 . . . . . . . 0.3907 . intronic . 0.326147 . . . . . . . . 0.3585 . 0 +1 228556986 OBSCN G C 1 0.000599042 0.0008 . . . . . . . . . intronic . 0.0009989 . . Name\x3dOREG1622171|N/A|FOS|PAZAR . . . . . . . 3 +1 228557755 OBSCN G A 1 0.00239617 0.0027 5.942 . . . Name\x3dENSR00000938301|Enhancer,ENSR00000938274|Enhancer . . 0.0027 nonsynonymous_SNV exonic . 0.0020828 T . . . D D . . 0.0012 . 6 +1 228557980 OBSCN T C 1 0.00199681 0.0012 . . . . . . . 0.0007 . intronic . 0.000925 . . . . . . . . 0.0010 . 2 +1 228558307 OBSCN T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 228558389 OBSCN C T 1 0.000199681 . 4.526 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D D . . . . 7 +1 228558817 OBSCN C T 1 0.000399361 . 6.323 . . . . . . 1.859e-05 nonsynonymous_SNV exonic . 9.06e-05 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . D D . . . . 8 +1 228558892 OBSCN C T 12 0.033746 0.0722 6.518 . . . . . . 0.0770 nonsynonymous_SNV exonic . 0.0549087 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . D D . . 0.0650 . 4 +1 228558952 OBSCN T G 2 0.00219649 0.0123 2.292 . . . . . . 0.0163 nonsynonymous_SNV exonic . 0.0063324 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . P D . . 0.0103 Name\x3d95.025643 2 +1 228558992 OBSCN CCA C 2 0.00199681 0.0088 . . . . . . . 0.0094 frameshift_deletion exonic . 0.0022768 . . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . . . . . 0.0038 . 11 +1 228559008 OBSCN C T 1 0.000399361 . . . . . . . . . synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . . . . . . . 5 +1 228559430 OBSCN G A 7 0.0217652 0.0376 -0.220 . . . . . . 0.0368 nonsynonymous_SNV exonic . 0.0289453 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . B T . . 0.0309 . 2.5 +1 228559450 OBSCN G A 2 0.00199681 0.0100 -0.731 . . . . . . 0.0109 nonsynonymous_SNV exonic . 0.0061901 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . B T . . 0.0077 . 2.5 +1 228559654 OBSCN G A 5 0.00499201 0.0111 1.765 . . . . . . 0.0153 nonsynonymous_SNV exonic . 0.0099287 T . Name\x3dOREG1185534|N/A|TFAP2C|PAZAR . B T . . 0.0152 . 2.5 +1 228559967 OBSCN C T 4 0.00499201 0.0109 2.939 . . . . . . 0.0357 nonsynonymous_SNV exonic . 0.0090102 T . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . P D . . 0.0136 . 1 +1 228559994 OBSCN C T 99 0.589058 0.5001 2.792 . . . . . . 0.6059 nonsynonymous_SNV exonic . 0.457226 T . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . B T . . 0.5033 . 3.5 +1 228560034 OBSCN C T 1 0.013778 0.0008 . . . . . . . 0.0019 synonymous_SNV exonic . 0.0042626 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . 0.0005 . 1 +1 228560139 OBSCN A G 187 0.974241 0.9212 . . . . . . . 0.9241 synonymous_SNV exonic . 0.816445 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . 0.9259 Name\x3d95.502104 2 +1 228560251 OBSCN G C 1 0.000199681 . 2.276 . . . . . . . nonsynonymous_SNV exonic . 2.59e-05 T . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . B D . . . . 5 +1 228560700 OBSCN T C 124 0.757987 0.5373 . . . . . . . 0.5552 synonymous_SNV exonic . 0.559029 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . 0.5485 . 1 +1 228561779 OBSCN C T 1 0.00179712 0.0085 . . . . . . . . . intronic . 0.0010608 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . . . 3 +1 228562350 OBSCN T C 1 0.00519169 0.0278 . . . . . . . 0.0255 synonymous_SNV exonic . 0.0183051 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . 0.0280 Name\x3d95.305033 2 +1 228562523 OBSCN C G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . Name\x3dOREG1945737|N/A|ZNF263|PAZAR . . . . . . . 5 +1 228563558 OBSCN C A 1 0.000599042 0.0015 . . . . . . . 0.0012 . intronic . 0.0008473 . . . . . . . . 0.0011 . 2 +1 228563748 OBSCN G A 1 0.000599042 0.0001 6.122 . . . . . . 0.0001 nonsynonymous_SNV exonic . 0.0003428 T . . . P D . . . Name\x3d96.913305 6 +1 228564757 OBSCN C T 1 0.00878594 0.0003 6.283 . . . . . . 0.0013 nonsynonymous_SNV exonic . 0.0048059 T . . . D D . . 0.0004 . 5 +1 228564796 OBSCN G A 1 0.000199681 . 4.260 . . . . . . 7.476e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . B D . . . . 4 +1 228564884 OBSCN G A 17 0.140775 0.0993 1.749 . . . . . . 0.1456 nonsynonymous_SNV exonic . 0.101926 T . . . B T . . 0.0847 . 1.5 +1 228565208 OBSCN C T 2 0.0117812 0.0428 . . . . . . . 0.0430 synonymous_SNV exonic . 0.0264744 . . . . . . . . 0.0354 . 0 +1 228565209 OBSCN G A 1 0.00179712 0.0004 7.258 . . . . . . 0.0018 nonsynonymous_SNV exonic . 0.0011513 T . . . D D . . 0.0010 . 5 +1 228565255 OBSCN T C 1 0.000199681 . 5.069 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . . 10 +1 228565311 OBSCN G A 1 0.000199681 6.49e-05 6.702 . . . . . . 0.0002 nonsynonymous_SNV exonic . 0.0001423 T . . . D D . . 0.0001 Name\x3d95.017004 8 +1 228565329 OBSCN G A 4 0.00499201 0.0178 3.334 . . . . . . 0.0229 nonsynonymous_SNV exonic . 0.0152197 T . . . B T . . 0.0231 Name\x3d95.583646 2.5 +1 228565445 OBSCN C A 17 0.124201 0.0975 . . . . . . . 0.1002 . intronic . 0.104604 . . . . . . . . 0.0852 . 0 +1 228565556 OBSCN T G 3 0.00479233 0.0108 . . . . . . . . . intronic . 0.0013777 . . . . . . . . . . 0 +1 228565826 OBSCN T C 2 0.00279553 0.0164 . . . . . . . . . intronic . 0.010604 . . . . . . . . . . 0 +1 228566528 OBSCN G A 1 0.000199681 . . . . . . . . 2.218e-05 . UTR3 . 1.29e-05 . . . . . . . . . . 4 +1 229567663 ACTA1 C GG 43 . . . MedGen:CN169374 not_specified Benign . . . . . intronic . 0.0005627 . . . . . . . . . Name\x3d99.559150 11 +1 229567683 ACTA1 TC T 43 0.209465 0.1611 . MedGen:CN169374 not_specified Benign . . . 0.1561 . intronic . 0.0049223 . . . . . . . . 0.1609 Name\x3d99.586072 1 +1 229567826 ACTA1 G A 1 0.000199681 6.488e-05 . . . . . . . 9.425e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d99.939397 5 +1 229568231 ACTA1 T G 213 0.999002 0.9994 . . . . Name\x3dENSR00000938431|Promoter . . . . intronic . 0.0001423 . . . . . . . . . Name\x3d98.588790 2 +1 229568300 ACTA1 C A 1 0.000199681 0.0001 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|Congenital_fiber-type_disproportion Uncertain_significance Name\x3dENSR00000938431|Promoter . . 5.89e-05 . intronic . 3.88e-05 . . . . . . 0.6445 0.462 0.0002 Name\x3d99.849690 6.5 +1 229568632 ACTA1 A G 44 0.273962 0.1623 . 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 . . Name\x3dMIMAT0000710|hsa-miR-365a-3p|Experimental 0.1806 . intronic . 0.204376 . . . . . . . 0.024 0.1807 Name\x3d99.613966 2 +1 229568637 ACTA1 C G 44 0.211861 0.1605 . 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 . . Name\x3dMIMAT0000710|hsa-miR-365a-3p|Experimental 0.1768 . intronic . 0.183335 . . . . . . . 0.086 0.1751 Name\x3d99.613966 2 +1 236849952 ACTN2 C T 11 0.0115815 0.0316 . 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 Name\x3dENSR00000022391|Promoter . . 0.0376 . UTR5 . 0.0243076 . . Name\x3dOREG1497882|N/A|EGR1|PAZAR . . . . . 0.0399 Name\x3d99.706106 -1 +1 236849999 ACTN2 A G 1 0.000599042 0.0014 1.768 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000022391|Promoter . . 0.0010 nonsynonymous_SNV exonic . 0.0006921 T . Name\x3dOREG1497882|N/A|EGR1|PAZAR . B T . . 0.0008 Name\x3d99.831313 14.5 +1 236881185 ACTN2 C T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.47e-05 . . . . . . . . 0.0001 Name\x3d99.696288 5 +1 236882303 ACTN2 T C 214 0.992612 1 . MedGen:CN169374 not_specified Benign . . . 0.9999 synonymous_SNV exonic . 0.95645 . . . . . . . . 0.9998 Name\x3d99.683489 1 +1 236883421 ACTN2 C T 214 0.920727 0.9946 . MedGen:CN169374 not_specified Benign . . . 0.9955 synonymous_SNV exonic . 0.949224 . . . . . . . . 0.9953 Name\x3d99.617908 1 +1 236883564 ACTN2 G A 214 0.922324 0.9946 . . . . . . . . . intronic . 0.186459 . . . . . . . . . Name\x3d96.650803 1 +1 236883585 ACTN2 T G 4 0.00179712 0.0071 . . . . . . . . . intronic . 0.001009 . . . . . . . . . Name\x3d95.772872 7 +1 236894647 ACTN2 G A 69 0.491613 0.2910 . . . . . . . 0.3119 . intronic . 0.375403 . . . . . . . . 0.3102 Name\x3d95.564112 1 +1 236894667 ACTN2 G A 1 0.000199681 0.0003 . . . . . . . . . intronic . 1.94e-05 . . . . . . . . 0.0006 . 2 +1 236899042 ACTN2 G A 25 0.195887 0.1255 . MedGen:CN169374 not_specified Benign . . . 0.1382 . intronic . 0.15646 . . . . . . . . 0.1356 Name\x3d98.899984 1 +1 236900334 ACTN2 C T 4 0.00119808 0.0014 . . . . . . . . . intronic . 0.0002458 . . . . . . . . . . 6 +1 236900554 ACTN2 C T 4 0.00539137 0.0227 . . . . . . . 0.0226 . intronic . 0.0153879 . . Name\x3dOREG1497883|N/A|EGR1|PAZAR . . . . . 0.0266 Name\x3d99.362508 2 +1 236900598 ACTN2 C T 158 0.531949 0.5332 . . . . . . . . . intronic . 0.0002305 . . Name\x3dOREG1497883|N/A|EGR1|PAZAR . . . . . . . 1 +1 236902532 ACTN2 ATT A 8 0.0509185 0.0602 . . . . . . . . . intronic . 0.0096819 . . . . . . . . . . 0 +1 236902560 ACTN2 C G,T 8 0.372404 0.6298 . . . . . . . 0.5992 . intronic . 0.500272 . . . . . . . . 0.6395 . 0 +1 236902594 ACTN2 C G 172 0.767572 0.7883 . 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 . . . 0.7758 . intronic . 0.763173 . . . . . . 0.3121 . 0.7763 Name\x3d99.688691 -3 +1 236902865 ACTN2 A C 134 0.422724 0.6814 . . . . . . . 0.6662 . intronic . 0.559702 . . . . . . . . 0.6570 . 0 +1 236907966 ACTN2 G A 3 0.0347444 0.0112 . 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 . . . 0.0107 synonymous_SNV exonic . 0.0180399 . . . . . . . . 0.0144 Name\x3d99.379015 -3 +1 236908011 ACTN2 C T 1 0.000399361 0.0024 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736 Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0037 synonymous_SNV exonic . 0.002348 . . . . . . . . 0.0042 Name\x3d99.802534 -1 +1 236908053 ACTN2 C T 1 0.000998403 0.0014 . 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 . . . 0.0012 synonymous_SNV exonic . 0.0009767 . . . . . . . . 0.0019 Name\x3d99.745310 11 +1 236908144 ACTN2 T C 3 0.0189696 0.0106 . . . . . . . . . intronic . 0.0026714 . . . . . . . . . . 0 +1 236911045 ACTN2 G A 1 0.000199681 6.481e-05 . MedGen:CN169374 not_specified Likely_benign . . . 7.559e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . . Name\x3d99.633162 5 +1 236911122 ACTN2 C T 7 0.0782748 0.0384 . . . . . . . 0.0418 . intronic . 0.0524767 . . . . . . . . 0.0324 Name\x3d98.527607 1 +1 236911137 ACTN2 A G 19 0.10623 0.0648 . . . . . . . . . intronic . 0.0167398 . . . . . . . . . Name\x3d96.490998 1 +1 236912597 ACTN2 A G 25 0.189896 0.0945 . . . . . . . 0.1043 . intronic . 0.137657 . . . . . . . . 0.1073 . 0 +1 236912622 ACTN2 T A 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 4 +1 236914738 ACTN2 ATTGT A 6 0.0145767 0.0295 . . . . . . . 0.0324 . intronic . 0.0007891 . . . . . . . . 0.0320 Name\x3d98.696720,99.003311 1 +1 236914754 ACTN2 T C 4 0.00119808 0.0013 . MedGen:C2677338,OMIM:612158|MedGen:CN169374 Dilated_cardiomyopathy_1AA|not_specified Benign . . . 0.0018 . intronic . 0.0011643 . . . . . . . . 0.0014 Name\x3d99.462539 3 +1 236914923 ACTN2 A G 1 0.0195687 0.0003 0.771 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0005 nonsynonymous_SNV exonic . 0.0057244 T . . . B T . . 0.0014 Name\x3d99.909309 -1.5 +1 236920782 ACTN2 A G 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . 0.8759 0.846 . Name\x3d99.564547 6 +1 236920960 ACTN2 A G 1 0.0215655 0.0004 . . . . . . . 0.0005 . intronic . 0.0064682 . . . . . . . . 0.0015 Name\x3d98.702438 1 +1 236923197 ACTN2 C T 25 0.0664936 0.0629 . . . . . . . . . intronic . 0.01293 . . . . . . . . . Name\x3d97.679730 1 +1 236924506 ACTN2 A G 188 0.798123 0.8953 . . . . . . . 0.8871 . intronic . 0.843572 . . . . . . . . 0.8909 Name\x3d95.962402 1 +1 236925844 ACTN2 G A 32 0.196086 0.1434 . 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 Name\x3dENSR00000939231|TF_binding_site . . 0.1441 synonymous_SNV exonic . 0.164118 . . . . . . . . 0.1392 Name\x3d99.699444 -2 +1 237205759 RYR2 G T 1 0.000599042 0.0005 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia Uncertain_significance Name\x3dENSR00000022413|Promoter . . . . UTR5 . 0.0001153 . . . . . . . . . Name\x3d97.442588 4 +1 237205892 RYR2 G A 1 0.000998403 0.0021 . . . . Name\x3dENSR00000022413|Promoter . . 0.0023 . intronic . 0.0006274 . . . . . . . . 0.0016 Name\x3d99.662651 4 +1 237519165 RYR2 G T 53 0.186901 0.2223 . . . . . . . . . intronic . 0.0393527 . . . . . . . . . Name\x3d98.947334 1 +1 237527551 RYR2 A G 8 0.0103834 0.0183 . . . . . . . . . intronic . 0.00326 . . . . . . . . . Name\x3d97.889333 1 +1 237532763 RYR2 T G 3 0.0189696 0.0414 . . . . . . . . . intronic . 0.0057955 . . . . . . . . . . 0 +1 237532860 RYR2 A G 1 0.000199681 . . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Likely_benign . . . 0.0001 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d99.910213 3 +1 237532996 RYR2 G A 2 0.000399361 0.0001 . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d95.744476 5 +1 237540615 RYR2 A C 55 0.362819 0.2506 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.2500 . intronic . 0.282719 . . . . . . . 0.002 0.2293 Name\x3d99.244447 -1 +1 237551298 RYR2 C T 1 0.000399361 0.0003 . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d95.869764 5 +1 237551376 RYR2 T A 120 0.55651 0.5469 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.5723 . intronic . 0.558725 . . . . . . 0.0001 0.008 0.5597 Name\x3d95.787306 -1 +1 237586384 RYR2 T C 24 0.170128 0.0876 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.1022 . intronic . 0.13527 . . . . . . 0.0001 0.006 0.0985 Name\x3d99.727925 -1 +1 237586449 RYR2 A T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.890199 5 +1 237608663 RYR2 A G 2 0.000399361 6.486e-05 . . . . . . . 0.0002 . intronic . 0.00011 . . . . . . . . 0.0004 . 4 +1 237608842 RYR2 C T 3 0.00658946 0.0075 . MedGen:CN169374 not_specified Benign . . . 0.0073 . intronic . 0.0078718 . . . . . . . . 0.0060 Name\x3d96.417798 7 +1 237617757 RYR2 C T 125 0.535743 0.5983 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.5917 synonymous_SNV exonic . 0.569876 . . . . . . . . 0.6005 Name\x3d99.695180 -1 +1 237619875 RYR2 ATT ATTT,ATTTT,AT,A 125 0.0127796 0.0006 . . . . . . . 0.0166 . intronic . 0.000414 . . . . . . . . . Name\x3d95.923485 1 +1 237619971 RYR2 T C 2 0.000399361 0.0008 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0007 synonymous_SNV exonic . 0.0004398 . . . . . . . . 0.0010 Name\x3d99.524418 1 +1 237620049 RYR2 T C 118 0.53115 0.5515 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.5456 . intronic . 0.542658 . . . . . . . . 0.5441 Name\x3d99.072911 -1 +1 237620108 RYR2 G A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 237632512 RYR2 T C 1 0.00299521 0.0079 . . . . . . . 0.0081 . intronic . 0.0050581 . . . . . . . . 0.0092 . 2 +1 237632514 RYR2 G T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +1 237655057 RYR2 C T 1 0.00139776 0.0015 . . . . . . . 0.0013 . intronic . 0.0006015 . . . . . . . . 0.0022 Name\x3d95.435834 3 +1 237655173 RYR2 A T 8 0.0215655 0.0228 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0403 synonymous_SNV exonic . 0.0136544 . . . . . . . . 0.0180 Name\x3d99.835212 -1 +1 237655267 RYR2 T C 6 0.00399361 0.0129 . . . . . . . 0.0142 . intronic . 0.0043984 . . . . . . . . 0.0049 Name\x3d95.462747 1 +1 237656185 RYR2 A G 80 0.396565 9.889e-05 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +1 237656289 RYR2 C T 2 0.00219649 0.0055 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0132 synonymous_SNV exonic . 0.0048124 . . . . . . . . 0.0083 Name\x3d99.931995 -1 +1 237664004 RYR2 C G 5 0.00459265 0.0180 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.0121 . intronic . 0.0090555 . . . . . . 0.0039 0.1 0.0124 Name\x3d99.334388 -1 +1 237670140 RYR2 A G 143 0.699481 0.6675 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000939271|Enhancer . . 0.6666 . intronic . 0.653497 . . . . . . . . 0.6578 Name\x3d99.757939 2 +1 237670190 RYR2 C T 1 0.00119808 6.484e-05 . . . . Name\x3dENSR00000939271|Enhancer . . . . intronic . 0.0002689 . . . . . . . . . Name\x3d98.734137 4 +1 237675150 RYR2 A AG 55 0.343251 0.1630 . . . . . . . . . intronic . 0.0001537 . . Name\x3dOREG1491355|N/A|EGR1|PAZAR . . . . . . . 1 +1 237675152 RYR2 A C 1 0.00239617 0.0080 . . . . . . . . . intronic . 0.0020363 . . Name\x3dOREG1491355|N/A|EGR1|PAZAR . . . . . . . 3 +1 237675163 RYR2 G A 81 0.295327 0.4259 . . . . . . . . . intronic . 0.3502 . . Name\x3dOREG1491355|N/A|EGR1|PAZAR . . . . . . . 1 +1 237693662 RYR2 C T 3 0.0323482 0.0096 . . . . . . . . . intronic . 0.0004995 . . . . . . . . . . 0 +1 237711797 RYR2 A G 201 0.830272 0.9564 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.9592 synonymous_SNV exonic . 0.908384 . . . . . . . . 0.9585 Name\x3d99.734657 -1 +1 237730059 RYR2 C T 1 0.00239617 0.0143 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 . . . 0.0112 nonsynonymous_SNV exonic . 0.0074579 T . Name\x3dOREG1710412|N/A|HNF4A|PAZAR . B T . . 0.0130 Name\x3d99.926699 1.5 +1 237730124 RYR2 A G 205 0.905551 0.9705 . MedGen:CN169374 not_specified Benign . . . 0.9734 . intronic . 0.932155 . . Name\x3dOREG1710412|N/A|HNF4A|PAZAR . . . . . 0.9754 . 1 +1 237732395 RYR2 G A 150 0.492812 0.7082 . MedGen:CN169374 not_specified Benign . . . 0.7160 . intronic . 0.621635 . . . . . . . . 0.7105 Name\x3d96.925715 1 +1 237732617 RYR2 A G 1 0.000199681 . 4.237 MedGen:CN169374 not_specified Uncertain_significance . . . 2.081e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B D 0.3523 0.482 . Name\x3d99.870532 5 +1 237732673 RYR2 C T 1 0.0197684 0.0506 . . . . . . . . . intronic . 0.0083958 . . . . . . . . . . 0 +1 237732684 RYR2 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 237753074 RYR2 AT ATT,A 1 0.285144 0.4491 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign/Likely_benign . . . 0.4997 . intronic . 0.012005 . . . . . . . . 0.4430 Name\x3d97.178351 -1 +1 237753364 RYR2 A C 101 0.336861 0.4881 . . . . . . . . . intronic . 0.0869329 . . . . . . . . . . 0 +1 237754020 RYR2 C T 1 0.000599042 0.0009 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0012 synonymous_SNV exonic . 0.000705 . . . . . . . . 0.0008 Name\x3d99.898378 7 +1 237754340 RYR2 A G 100 0.33746 0.4849 . MedGen:CN169374 not_specified Benign . . . 0.4852 . intronic . 0.407239 . . . . . . . . 0.4731 . 0 +1 237754963 RYR2 A G 6 0.0071885 0.0275 . . . . . . . . . intronic . 0.0038033 . . . . . . . . . . 0 +1 237755076 RYR2 A G 6 0.0071885 0.0275 1.769 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0248 nonsynonymous_SNV exonic . 0.0174319 T . . . B T . . 0.0218 Name\x3d99.848202 0.5 +1 237755188 RYR2 C T 100 0.335863 0.4863 . MedGen:CN169374 not_specified Benign . . . 0.5113 . intronic . 0.409678 . . . . . . . . 0.4748 . 0 +1 237755203 RYR2 T C 100 0.33746 0.4886 . MedGen:CN169374 not_specified Benign . . . 0.4854 . intronic . 0.401948 . . . . . . . . 0.4624 . 0 +1 237759023 RYR2 C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d96.913877 5 +1 237765458 RYR2 G T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +1 237765470 RYR2 A T 96 0.293131 0.4713 . . . . . . . . . intronic . 0.0832589 . . . . . . . . 0.4598 . 0 +1 237774017 RYR2 A G 2 0.00159744 0.0055 . . . . . . . 0.0068 . intronic . 0.0023286 . . . . . . . . 0.0037 Name\x3d97.185930 3 +1 237778082 RYR2 G A 6 0.00978435 0.0282 -1.771 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0232 nonsynonymous_SNV exonic . 0.0164163 T . . . B T . . 0.0234 Name\x3d99.715638 0.5 +1 237778084 RYR2 G A 7 0.076278 0.0262 0.814 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0308 nonsynonymous_SNV exonic . 0.0419917 T . . . B T . . 0.0311 Name\x3d99.715638 0.5 +1 237780803 RYR2 A G 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d96.798190 5 +1 237794913 RYR2 A ATT 77 0.553315 . . . . . . . . . . intronic . 0.106462 . . . . . . . . . . 0 +1 237796837 RYR2 G A 64 0.428514 0.3475 . MedGen:CN169374 not_specified Benign . . . 0.3283 . intronic . 0.0018887 . . . . . . . . 0.3323 Name\x3d98.575087 1 +1 237796850 RYR2 A G 7 0.155152 0.0596 . MedGen:CN169374 not_specified Benign . . . 0.0626 . intronic . 0.0018887 . . . . . . . . 0.0561 Name\x3d99.279769 1 +1 237797082 RYR2 T G 64 0.440695 0.3478 . . . . . . . . . intronic . 0.0714933 . . . . . . . . . . 0 +1 237798342 RYR2 G A 17 0.029353 0.1204 . MedGen:CN169374 not_specified Likely_benign . . . 0.1126 . intronic . 0.054346 . . . . . . . . 0.1161 . 0 +1 237801770 RYR2 T C 214 0.954872 0.9999 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.9997 synonymous_SNV exonic . 0.937362 . . . . . . . . 0.9994 Name\x3d99.920601 -1 +1 237802559 RYR2 T C 214 0.998203 0.9999 . . . . . . . . . intronic . 0.0001537 . . . . . . . . . . 0 +1 237806606 RYR2 G GT 1 0.0129792 0.0004 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0007 . intronic . 0.0002199 . . . . . . . . 0.0006 . 0 +1 237806819 RYR2 G A 23 0.14357 0.0994 . . . . . . . . . intronic . 0.02238 . . . . . . . . . . 0 +1 237811766 RYR2 C T 2 0.00159744 0.0062 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0080 synonymous_SNV exonic . 0.003965 . . . . . . . . 0.0067 Name\x3d99.929263 1 +1 237811896 RYR2 G A 1 0.000399361 6.483e-05 7.278 . . . . . . 0.0004 nonsynonymous_SNV exonic . 0.0001617 D . . . D D . . 0.0001 Name\x3d99.909780 11 +1 237813126 RYR2 A G 92 0.573083 0.4505 . . . . . . . . . intronic . 0.0942032 . . . . . . . . . . 0 +1 237814783 RYR2 C T 91 0.554912 0.4479 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4775 synonymous_SNV exonic . 0.427834 . . . . . . . . 0.4361 Name\x3d99.838067 -1 +1 237814843 RYR2 C T 1 0.00219649 . . . . . . . . . . intronic . 7.76e-05 . . . . . . . . . Name\x3d98.516597 3 +1 237817514 RYR2 GA G 40 0.447484 0.2619 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +1 237817784 RYR2 A G 33 0.353435 0.2131 . . . . . . . . . intronic . 0.0061088 . . . . . . . . . . 0 +1 237823256 RYR2 A C 12 0.0407348 0.0512 . MedGen:CN169374 not_specified Benign . . . 0.0815 . intronic . 0.0431366 . . . . . . . . 0.0530 Name\x3d98.534701 1 +1 237823258 RYR2 A C 1 0.000199681 . . . . . . . . 3.126e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.534701 5 +1 237829952 RYR2 G A 2 0.00119808 0.0026 . . . . . . . . . intronic . 0.0002329 . . . . . . . . 0.0041 Name\x3d99.348525 3 +1 237831103 RYR2 C A 214 0.952077 0.9999 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +1 237831365 RYR2 C T 1 0.000998403 0.0030 . . . . . . . . . intronic . 0.0029584 . . . . . . . . . . 2 +1 237838001 RYR2 G A 2 0.00179712 0.0131 . . . . . . . 0.0149 . intronic . 0.0064359 . . . . . . . . 0.0079 Name\x3d98.106732 1 +1 237841339 RYR2 A C 1 0.000199681 0.0003 . Human_Phenotype_Ontology:HP:0001627,MedGen:C4021866|Human_Phenotype_Ontology:HP:0001688,MedGen:C0085610|Human_Phenotype_Ontology:HP:0001714,MedGen:C0340279|Human_Phenotype_Ontology:HP:0005184,MedGen:C1560305|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0012630,MedGen:C4022814|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN517202 Abnormal_heart_morphology|Sinus_bradycardia|Ventricular_hypertrophy|Prolonged_QTc_interval|Left_ventricular_noncompaction_cardiomyopathy|Abnormality_of_the_trabecular_meshwork|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000939276|Enhancer . . 0.0005 . intronic . 0.0002005 . . . . . . . . 0.0001 Name\x3d99.653611 8 +1 237841390 RYR2 A G 54 0.0992412 0.3164 2.365 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign Name\x3dENSR00000939276|Enhancer . . 0.3501 nonsynonymous_SNV exonic rs34967813|Smoking-initiation-(ever-regular-vs-never-regular)|0.011|8E-7|PMID:30679032 0.216757 T . . . B T . . 0.3042 Name\x3d99.917075 1.5 +1 237841393 RYR2 A C 1 0.000199681 . 4.217 . . . Name\x3dENSR00000939276|Enhancer . . 8.159e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . D D . . . Name\x3d99.944688 9 +1 237850666 RYR2 C CT 151 0.561102 . . . . . . . . . . intronic . 0.0002305 . . . . . . . . . Name\x3d98.965336 1 +1 237850703 RYR2 C T 6 0.00559105 . . . . . Name\x3dENSR00000391365|Enhancer . . . . intronic . 0.0010758 . . . . . . . . . Name\x3d99.661070 12 +1 237850729 RYR2 C T 10 0.00958466 . . . . . Name\x3dENSR00000391365|Enhancer . . . . intronic . 0.0003105 . . . . . . . . . Name\x3d99.671939 12 +1 237850816 RYR2 C T 1 0.000399361 0.0018 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000391365|Enhancer . . 0.0027 . intronic . 0.0014812 . . . . . . . . 0.0024 Name\x3d99.902829 4 +1 237862360 RYR2 A G 1 0.000199681 6.488e-05 . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +1 237862421 RYR2 T A 1 0.000199681 0.0012 . . . . . . . . . intronic . 0.0005763 . . . . . . . . . Name\x3d98.278148 3 +1 237862436 RYR2 T C 155 0.727436 0.7497 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +1 237863718 RYR2 T G 214 0.969249 0.9994 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.9994 synonymous_SNV exonic rs2797436|Adolescent-idiopathic-scoliosis||7E-7|PMID:30019117 0.971902 . . . . . . . . 0.9995 Name\x3d99.940279 -1 +1 237865203 RYR2 C T 214 0.969249 0.9995 . . . . . . . . . intronic . 0.193756 . . . . . . . . . . 0 +1 237865451 RYR2 C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d97.813096 5 +1 237870203 RYR2 C T 6 0.00579073 0.0095 . . . . . . . 0.0102 . intronic . 0.0080788 . . . . . . . . 0.0128 . 0 +1 237870542 RYR2 G A 1 0.000199681 6.481e-05 4.327 . . . . . . 3.394e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . B T . . . Name\x3d99.921260 5 +1 237872714 RYR2 GT G 208 0.765974 0.9867 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +1 237872887 RYR2 T C 6 0.00938498 0.0116 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0187 . intronic . 0.0106079 . . . . . . . . 0.0166 . 4 +1 237875040 RYR2 C T 1 0.000599042 0.0001 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0016 . intronic . 0.0004916 . . . . . . 0.0002 0.068 0.0004 Name\x3d99.774261 7 +1 237875068 RYR2 C T 1 0.00339457 0.0031 . 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 . . . 0.0056 synonymous_SNV exonic . 0.00315 . . . . . . . . 0.0033 Name\x3d99.907421 1 +1 237880443 RYR2 G A 1 0.00159744 0.0017 . . . . . . . . . intronic . 0.0003105 . . . . . . . . . . 2 +1 237881770 RYR2 C T 214 0.960463 0.9996 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.9994 synonymous_SNV exonic . 0.966372 . . . . . . . . 0.9995 Name\x3d99.933581 -1 +1 237890437 RYR2 C T 214 0.960264 0.9996 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.9994 synonymous_SNV exonic . 0.969903 . . . . . . . . 0.9995 Name\x3d99.855105 -1 +1 237893674 RYR2 C T 214 0.985224 0.9998 . MedGen:CN169374 not_specified Benign . . . 0.9998 . intronic . 0.0001035 . . . . . . . . 0.9998 . 0 +1 237905520 RYR2 A G 1 0.000599042 0.0010 . . . . . . . . . intronic . 0.0006147 . . . . . . . . . . 2 +1 237905568 RYR2 T TC 61 0.195088 0.2767 . . . . . . . 0.2293 . intronic . 0.0009573 . . . . . . . . 0.2912 . 0 +1 237905586 RYR2 A T 1 0.0081869 0.0011 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia Likely_benign . . . 0.0002 . intronic . 0.000304 . . . . . . . 0.012 . Name\x3d95.029922 1 +1 237923053 RYR2 C T 147 0.761581 0.6807 . MedGen:CN169374 not_specified Benign . . . 0.6863 . intronic . 0.69688 . . Name\x3dOREG1118953|N/A|USF2|JASPAR,OREG1880749|N/A|STAT1|PAZAR . . . . . 0.6923 Name\x3d99.580996 2 +1 237923243 RYR2 A G 18 0.0930511 0.1049 . . . . . . . . . intronic . 0.0208277 . . Name\x3dOREG1880749|N/A|STAT1|PAZAR . . . . . . . 1 +1 237934206 RYR2 C T 2 0.0061901 0.0295 . MedGen:CN169374 not_specified Benign . . . 0.0200 . intronic . 0.0080853 . . . . . . . . 0.0227 . 0 +1 237941906 RYR2 C A 6 0.00978435 0.0126 . . . . . . . . . intronic . 0.0027555 . . . . . . . . . Name\x3d98.512987 1 +1 237941945 RYR2 G A 7 0.0445288 0.0476 . MedGen:CN169374 not_specified Likely_benign . . . 0.0420 . intronic . 0.0432336 . . . . . . . . 0.0458 Name\x3d99.408047 1 +1 237942082 RYR2 AACTG A 6 0.00978435 0.0126 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.0137 . intronic . 0.0003299 . . . . . . . . 0.0158 Name\x3d98.351284 -1 +1 237944814 RYR2 C T 21 0.121006 0.0815 . . . . . . . . . intronic . 0.0197022 . . . . . . . . 0.0998 Name\x3d98.616522 1 +1 237946964 RYR2 T C 65 0.414736 0.3402 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.4705 . intronic . 0.356794 . . . . . . 0.0017 0.088 0.3387 Name\x3d99.603074 -1 +1 237947000 RYR2 C T 6 0.0123802 0.0133 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0168 synonymous_SNV exonic . 0.0119403 . . . . . . . . 0.0173 Name\x3d99.891071 -1 +1 237948286 RYR2 A G 4 0.0107827 0.0080 0.618 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.0150 . intronic . 0.0069598 . . . . . . . . 0.0092 Name\x3d96.383836 -1 +1 237949440 RYR2 C G 1 0.000199681 6.48e-05 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 237949456 RYR2 T C 15 0.0407348 0.0576 . . . . . . . . . intronic . 0.0114552 . . . . . . . . . . 0 +1 237951226 RYR2 A G 2 0.0397364 0.0355 . . . . . . . . . intronic . 0.0062806 . . . . . . . . . . 0 +1 237951451 RYR2 A G 113 0.636581 0.5359 . MedGen:CN169374 not_specified Benign . . . 0.5482 . intronic . 0.549178 . . . . . . . . 0.5443 Name\x3d98.585776 1 +1 237951482 RYR2 G A 62 0.297923 0.2812 . MedGen:CN169374 not_specified Benign . . . 0.2886 . intronic . 0.252616 . . . . . . . . 0.2861 . 0 +1 237955364 RYR2 A G 14 0.0535144 0.0309 . MedGen:C4053736,OMIM:604772|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified Benign . . . 0.0437 . intronic . 0.0291523 . . . . . . . . 0.0312 Name\x3d98.918745 -3 +1 237955649 RYR2 CTGTG C 107 0.528155 0.3917 . . . . . . . 0.4759 . intronic . 0.0001811 . . . . . . . . . Name\x3d97.395491 1 +1 237955678 RYR2 T C 107 0.528155 0.3919 . . . . . . . . . intronic . 0.12452 . . . . . . . . . . 0 +1 237955680 RYR2 T C 107 0.528155 0.3890 . . . . . . . . . intronic . 0.0216306 . . . . . . . . . . 0 +1 237957146 RYR2 G A 125 0.734026 0.6737 . MedGen:CN169374 not_specified Benign . . . 0.6640 . intronic . 0.676544 . . . . . . . . 0.6579 Name\x3d99.475319 1 +1 237957161 RYR2 A G 127 0.757588 0.6923 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.6874 . intronic . 0.0035252 . . . . . . . . 0.6785 Name\x3d99.755143 -1 +1 237957309 RYR2 A C 123 0.750799 0.6834 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.6716 . intronic . 0.709325 . . . . . . . . 0.6684 Name\x3d99.758262 -1 +1 237958750 RYR2 A AT 109 0.647764 0.6656 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +1 237961297 RYR2 A ATGGTTGTGGTTG 5 0.00938498 . . . . . . . . . . intronic . 3.23e-05 . . . . . . . . . Name\x3d98.011046 11 +1 237965065 RYR2 C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 237965094 RYR2 G T 80 0.46226 0.4175 . . . . . . . . . intronic . 0.0807816 . . . . . . . . . . 0 +1 237965131 RYR2 G A 80 0.405152 0.4121 . MedGen:CN169374 not_specified Benign . . . 0.4119 . intronic . 0.392524 . . . . . . . . 0.4032 Name\x3d98.355954 1 +1 237965133 RYR2 A AT 70 0.377995 0.3775 . MedGen:CN169374 not_specified Likely_benign . . . 0.3296 . intronic . 0.00011 . . . . . . . . . Name\x3d98.355954 1 +1 237969638 RYR2 A G 35 0.28774 0.2109 . . . . . . . . . intronic . 0.0436864 . . . . . . . . . . 0 +1 237972148 RYR2 C A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 237972152 RYR2 T C 4 0.0091853 0.0073 . . . . . . . 0.0084 . intronic . 0.0086157 . . . . . . . . 0.0078 Name\x3d98.006337 7 +1 237972189 RYR2 A G 4 0.0091853 0.0073 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign/Likely_benign . . . 0.0084 . intronic . 0.0083699 . . . . . . 0.0005 0.024 0.0078 Name\x3d99.692462 5 +1 237991614 RYR2 G C 1 0.00179712 0.0090 . . . . . . . . . intronic . 0.001533 . . . . . . . . 0.0060 Name\x3d95.002539 3 +1 237991767 RYR2 T C 5 0.00938498 0.0080 . . . . . . . 0.0120 . intronic . 0.0062418 . . . . . . . . 0.0072 . 0 +1 237991862 RYR2 TG T 10 0.0209665 0.0731 . . . . . . . . . intronic . 0.0106808 . . . . . . . . . . 0 +1 237993743 RYR2 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +1 237993798 RYR2 C T 3 0.00159744 0.0032 . . . . . . . 0.0039 . intronic . 0.0029366 . . . . . . . . 0.0037 Name\x3d98.902368 7 +1 237994957 RYR2 G A 1 0.158347 0.0057 . . . . . . . . . intronic . 0.0097347 . . . . . . . . . . 0 +1 237996016 RYR2 C G 1 0.000199681 . . . . . Name\x3dENSR00000391398|Enhancer . . . . UTR3 . 3.84e-05 . . . . . . . . . Name\x3d99.642075 6 +20 30407387 MYLK2 G A 4 0.00119808 0.0031 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 Name\x3dENSR00000648953|Promoter . . 0.0012 nonsynonymous_SNV exonic . 0.0005304 T . . . B T . . 0.0016 Name\x3d99.951784 15.5 +20 30408306 MYLK2 C G 7 0.00838658 0.0205 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 Name\x3dENSR00000648953|Promoter . . 0.0189 nonsynonymous_SNV exonic . 0.0137838 T . . . D D . . 0.0202 Name\x3d99.842390 11 +20 30409207 MYLK2 G A 1 0.000599042 . . . . . . . . . . intronic . 0.0001164 . . . . . . . . . Name\x3d99.313475 1 +20 30409452 MYLK2 T C 23 0.0720847 0.0658 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign . . . 0.0781 synonymous_SNV exonic . 0.0680134 . . . . . . . . 0.0802 Name\x3d99.852089 -3 +20 30409573 MYLK2 C T 23 0.071885 0.0644 . . . . . . . 0.0779 . intronic . 0.0620302 . . . . . . . . 0.0706 Name\x3d99.005837 -1 +20 30409584 MYLK2 G C 14 0.0549121 0.1192 . . . . . . . 0.1262 . intronic . 0.0890868 . . . . . . . . 0.1195 Name\x3d99.030764 -1 +20 30411427 MYLK2 T C 23 0.0720847 0.0658 . . . . . . . 0.0785 . intronic . 0.0670366 . . . . . . . . 0.0802 Name\x3d98.478916 -1 +20 30412101 MYLK2 C T 1 0.00599042 0.0167 . 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 . . . 0.0164 synonymous_SNV exonic . 0.0114358 . . Name\x3dOREG1501378|N/A|EGR1|PAZAR . . . . . 0.0193 Name\x3d99.904036 -8 +20 30414334 MYLK2 G A 23 0.0720847 0.0656 . . . . . . . . . intronic . 0.0139196 . . . . . . . . . Name\x3d95.528867 -1 +20 30414503 MYLK2 C T 5 0.00499201 0.0134 . 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 . . . 0.0156 synonymous_SNV exonic . 0.0106661 . . . . . . . . 0.0185 Name\x3d99.912412 7 +20 30414528 MYLK2 G A 5 0.00958466 0.0262 . 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 . . . 0.0307 . intronic . 0.0202779 . . . . . . . . 0.0265 Name\x3d99.326815 -3 +20 30414560 MYLK2 C G 23 0.0720847 0.0658 . . . . . . . 0.0782 . intronic . 0.0672824 . . . . . . . . 0.08 Name\x3d96.392839 -1 +20 30414578 MYLK2 G A 7 0.0201677 0.0408 . . . . . . . 0.0438 . intronic . 0.0336218 . . . . . . . . 0.0469 Name\x3d96.809468 -1 +20 30414621 MYLK2 C T 1 0.0081869 0.0293 . 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 . . . 0.0228 synonymous_SNV exonic . 0.0202326 . . . . . . . . 0.0216 Name\x3d99.897062 -5 +20 30418996 MYLK2 G A 4 0.00179712 0.0056 . . . . . . . 0.0047 . intronic . 0.003454 . . . . . . . . 0.0048 Name\x3d99.292048 5 +20 30419595 MYLK2 C T 1 0.000199681 . 5.477 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d99.937496 3 +20 30419954 MYLK2 A G 23 0.0722843 0.0641 . 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 . . . 0.0914 . intronic . 0.0641389 . . . . . . . . 0.0755 Name\x3d98.672132 -3 +20 30421459 MYLK2 C T 44 0.222444 0.2209 . . . . . . . . . intronic . 0.0385571 . . . . . . . . 0.2040 Name\x3d98.357362 1 +20 31996336 SNTA1 T G 2 0.0365415 . 3.397 . . . . . . 3.7e-05 nonsynonymous_SNV exonic . 0.0011837 D . . . D D . . . Name\x3d99.679101 2 +20 32000351 SNTA1 A G 144 0.6877 0.6871 . . . . . . . 0.6933 . intronic . 0.682941 . . Name\x3dOREG1187476|N/A|TFAP2C|PAZAR . . . . . 0.6893 Name\x3d96.216822 0 +20 32000462 SNTA1 C T 2 0.0071885 0.0176 . 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 Name\x3dENSR00001050272|Enhancer . . 0.0138 synonymous_SNV exonic . 0.0109184 . . Name\x3dOREG1187476|N/A|TFAP2C|PAZAR . . . . . 0.0195 Name\x3d99.409965 5 +20 32000520 SNTA1 G C 2 0.000998403 0.0041 4.849 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2751830,OMIM:612955|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_12|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00001050272|Enhancer . . 0.0033 nonsynonymous_SNV exonic . 0.0019211 T . Name\x3dOREG1524827|N/A|ESR1|PAZAR,OREG1533887|N/A|ESR1|PAZAR,OREG1187476|N/A|TFAP2C|PAZAR . D D . . 0.0030 Name\x3d99.220788 10 +20 32031206 SNTA1 G A 2 0.000599042 0.0039 1.143 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2751830,OMIM:612955|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_12|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000136252|Promoter . . 0.0029 nonsynonymous_SNV exonic . 0.0003881 T . Name\x3dOREG1187477|N/A|TFAP2C|PAZAR . B D . . . Name\x3d99.787778 7 +20 32031227 SNTA1 G A 1 0.000199681 . 1.553 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN517202 Long_QT_syndrome|not_provided Uncertain_significance Name\x3dENSR00000136252|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1187477|N/A|TFAP2C|PAZAR . B T . . . Name\x3d99.791355 6.5 +20 42743454 JPH2 A G 66 0.257388 0.3044 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign . . . 0.3514 synonymous_SNV exonic . 0.247313 . . . . . . . . 0.3065 Name\x3d99.674575 -7 +20 42743559 JPH2 G A 1 0.000199681 6.498e-05 . . . . . . . . . intronic . 5.82e-05 . . . . . . . . . Name\x3d97.652494 5 +20 42743616 JPH2 G C 6 0.00499201 0.0136 . . . . . . . . . intronic . 0.0117566 . . . . . . . . . . 0 +20 42744265 JPH2 G C 14 0.104433 0.0738 . . . . . . . 0.0727 . intronic . 0.0727352 . . . . . . . . 0.0740 Name\x3d97.935933 1 +20 42744587 JPH2 G C 51 0.152955 0.2304 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign . . . 0.2773 synonymous_SNV exonic . 0.139054 . . . . . . . . 0.1887 Name\x3d99.775908 -7 +20 42744802 JPH2 C T 3 0.0153754 0.0080 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 . 0.003564 T . . . B T . . 0.004 Name\x3d99.737037 -5.5 +20 42745033 JPH2 G A 4 0.00738818 0.0318 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign . . . 0.0248 . intronic . 0.0055627 . . . . . . 0.0001 . . Name\x3d99.475903 -7 +20 42747247 JPH2 C T 28 0.270367 0.1302 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 . . . 0.1342 nonsynonymous_SNV exonic . 0.17732 T . . . D T . . 0.1290 Name\x3d99.436092 -4 +20 42747254 JPH2 G A 25 0.048722 0.1011 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign . . . 0.0930 synonymous_SNV exonic . 0.0727675 . . . . . . . . 0.1027 Name\x3d99.604477 -7 +20 42789053 JPH2 G A 1 0.00199681 0.0022 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign . . . 0.0030 . intronic . 0.002652 . . . . . . 0.0011 0.02 0.0021 Name\x3d99.791148 -5 +20 42789056 JPH2 G C 1 0.00299521 0.0053 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign . . . 0.0063 . intronic . 0.0036545 . . . . . . 0.0001 0.048 0.0027 Name\x3d99.791148 -5 +20 42806581 JPH2 G A 1 0.000199681 . . . . . . . . 1.84e-05 . UTR3 . 1.94e-05 . . . . . . . . . . 4 +20 42806597 JPH2 C T 1 0.000399361 . . . . . . . . 1.84e-05 . UTR3 . 3.88e-05 . . . . . . . . . Name\x3d97.594677 5 +20 42814931 JPH2 T C 175 0.862819 0.8303 . . . . Name\x3dENSR00000137483|Promoter . . 0.8275 . intronic . 0.827687 . . . . . . . . 0.8244 Name\x3d96.717802 2 +20 42815190 JPH2 G A 175 0.854233 0.8376 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype|not_provided Benign Name\x3dENSR00000137483|Promoter . . 0.8318 synonymous_SNV exonic . 0.83832 . . . . . . . . 0.8293 Name\x3d99.918953 -6 +20 61039958 GATA5 T C 100 0.629193 0.5371 . . . . . . . 0.5140 synonymous_SNV exonic . 0.532716 . . . . . . . . 0.5094 Name\x3d95.655235 -1 +20 61040014 GATA5 C T 1 0.000399361 6.57e-05 1.651 . . . . . . 0.0001 nonsynonymous_SNV exonic . 1.29e-05 D . . . B T . . 0.0002 Name\x3d96.984617 3 +20 61040453 GATA5 C G 94 0.534545 0.5035 . . . . . . . 0.4900 synonymous_SNV exonic . 0.469942 . . Name\x3dOREG1413158|N/A|E2F1|PAZAR . . . . . 0.4841 Name\x3d96.786518 0 +20 61040951 GATA5 C T 95 0.529553 0.4987 . . . . . . . 0.5504 synonymous_SNV exonic . 0.442724 . . . . . . . . 0.4776 Name\x3d98.086064 -1 +20 61040991 GATA5 C T 1 0.000199681 0.0004 . . . . . . . 0.0003 . intronic . 9.06e-05 . . . . . . . . 0.0002 . 2 +20 61041422 GATA5 C T 1 0.000399361 . . . . . . . . . . intronic . 0.0001921 . . Name\x3dOREG1485716|N/A|EGR1|PAZAR . . . . . . . 3 +20 61041640 GATA5 G A 1 0.000599042 0.0011 . . . . . . . 0.0024 . intronic . 0.0004981 . . Name\x3dOREG1485716|N/A|EGR1|PAZAR . . . . . 0.0010 . 1 +20 61041651 GATA5 G A 1 0.000199681 . . . . . . . . . . intronic . 5.17e-05 . . Name\x3dOREG1485716|N/A|EGR1|PAZAR . . . . . . . 3 +20 61041653 GATA5 G C 94 0.420327 0.4121 . . . . . . . 0.4391 . intronic rs6061244|Benign-prostatic-hyperplasia-and-lower-urinary-tract-symptoms-(prostate-cancer-excluded)|1.0869565|3E-10|PMID:30410027 0.175043 . . Name\x3dOREG1485716|N/A|EGR1|PAZAR . . . . . 0.3733 . -1 +20 61048460 GATA5 A G 2 0.00219649 0.0016 3.750 . . . Name\x3dENSR00000657241|Promoter . . 0.0032 nonsynonymous_SNV exonic . 0.001216 D . . . P D 0.4452 0.502 0.0014 Name\x3d98.107154 5 +20 61048549 GATA5 G A 94 0.388179 0.4329 . . . . Name\x3dENSR00000657241|Promoter . . 0.4697 synonymous_SNV exonic . 0.383902 . . . . . . . . 0.4344 Name\x3d98.040156 0 +20 61050082 GATA5 C T 1 0.00239617 . 2.628 . . . Name\x3dENSR00000657241|Promoter . . . nonsynonymous_SNV exonic . 0.0006598 T . Name\x3dOREG1485709|N/A|EGR1|PAZAR . B T . . 0.0001 Name\x3d98.801386 4.5 +20 61050154 GATA5 A G 1 0.000599042 0.0006 4.737 MedGen:CN169374 not_specified Uncertain_significance Name\x3dENSR00000657241|Promoter . . 0.0064 nonsynonymous_SNV exonic . 0.0003493 D . Name\x3dOREG1485709|N/A|EGR1|PAZAR . D D . . 0.0002 Name\x3d98.308121 6 +20 61050379 GATA5 T G 35 0.142572 0.1795 0.113 . . . Name\x3dENSR00000657241|Promoter . . 0.375 nonsynonymous_SNV exonic . 0.0343851 T . Name\x3dOREG1485709|N/A|EGR1|PAZAR . B T . . . Name\x3d97.830015 2.5 +20 61050552 GATA5 G C 1 0.000998403 . 1.970 . . . Name\x3dENSR00000657241|Promoter . . . nonsynonymous_SNV exonic . 5.17e-05 D . Name\x3dOREG1485709|N/A|EGR1|PAZAR . P D . . . Name\x3d98.522779 6 +20 61050625 GATA5 G A 5 0.101837 0.0091 . . . . Name\x3dENSR00000657241|Promoter . . 0.0275 . intronic . 0.0207242 . . Name\x3dOREG1485709|N/A|EGR1|PAZAR . . . . . 0.0070 . 0 +21 35742722 KCNE2 C T 34 0.286941 0.1455 . . . . . . . . . intronic . 0.0366101 . . . . . . . . . Name\x3d98.361661 -1 +21 35742750 KCNE2 A G 4 0.0744808 0.0284 . MedGen:CN169374 not_specified Benign . . . 0.0272 . intronic . 0.0386023 . . . . . . . . 0.0316 Name\x3d98.254505 -1 +21 35742947 KCNE2 T C 2 0.000798722 0.0001 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 . 0.0008603 D . . . D D . . 0.0002 Name\x3d99.905103 15 +21 35821609 na G A 1 0.000199681 . . . . . . . . 3.699e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d99.597612 3 +21 35821680 na C T 1 0.00379393 0.0104 2.892 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C1867904,OMIM:613695|MedGen:C3150956|MedGen:C3150957|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Long_QT_syndrome_5|Long_QT_syndrome_5,_acquired,_susceptibility_to|Long_QT_syndrome_2/5|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity,_other,_risk_factor . . . 0.0134 nonsynonymous_SNV exonic rs1805128|QT-interval|7.409|3E-15|PMID:30679814 0.0092431 T . . . P D . . 0.0122 Name\x3d99.562698 -1 +21 35821821 na T C 127 0.673922 0.6452 -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 . . . 0.6427 nonsynonymous_SNV exonic . 0.640548 T . . . B T . . 0.6369 Name\x3d99.420721 -3.5 +21 35821849 na C T 1 0.00379393 0.0055 . 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 . . . 0.0054 synonymous_SNV exonic . 0.0039003 . . . . . . . . 0.0056 Name\x3d99.547099 -1 +21 35821939 KCNE1B C T 1 0.000399361 . 0.846 . . . . . . . nonsynonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.577943 4.5 +22 19864694 TXNRD2 C T 1 0.000199681 0.0003 . MedGen:CN169374 not_specified Likely_benign . . . 0.0005 unknown exonic . 0.0006015 . . Name\x3dOREG1513432|N/A|EGR1|PAZAR . . . . . 0.0001 Name\x3d96.545331 4 +22 19865925 TXNRD2 C T 1 0.000199681 . . . . . . . . . unknown exonic . 1.29e-05 . . Name\x3dOREG1513432|N/A|EGR1|PAZAR . . . . . . Name\x3d97.531187 6 +22 19867771 TXNRD2 C T 41 0.269169 0.1511 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1600 unknown exonic . 0.180043 . . Name\x3dOREG1944311|N/A|ZNF263|PAZAR,OREG1513433|N/A|EGR1|PAZAR . . . . . 0.1615 Name\x3d97.876249 -1 +22 19868218 TXNRD2 A G 162 0.718251 0.7309 2.110 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000666574|Promoter . . 0.7403 unknown exonic . 0.69829 T . Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR . B T . . 0.7377 Name\x3d95.253025 -1 +22 19868228 TXNRD2 G A 1 0.0169728 0.0022 . 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 Name\x3dENSR00000666574|Promoter . . 0.0043 unknown exonic . 0.006811 . . Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR . . . . . 0.0044 Name\x3d97.119797 -1 +22 19868255 TXNRD2 AG A 42 0.156749 0.1479 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000666574|Promoter . . 0.1644 . intronic . 0.0045536 . . Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR . . . . . 0.1610 . 2 +22 19870831 TXNRD2 C T 68 0.221645 0.3011 . MedGen:CN169374 not_specified Benign . . . 0.3064 . intronic . 0.266141 . . Name\x3dOREG1513433|N/A|EGR1|PAZAR . . . . . 0.2962 . 2 +22 19871018 TXNRD2 C T 1 0.000199681 . . . . . . . . 1.844e-05 . intronic . 1.29e-05 . . Name\x3dOREG1513433|N/A|EGR1|PAZAR . . . . . 0.0001 . 5 +22 19882984 TXNRD2 T G 32 0.251198 0.1588 -1.829 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1653 nonsynonymous_SNV exonic . 0.185929 T . Name\x3dOREG1944307|N/A|ZNF263|PAZAR,OREG1513448|N/A|EGR1|PAZAR . B T . . 0.1662 . 0.5 +22 19883123 TXNRD2 C T 1 0.000399361 0.0005 . MedGen:CN169374 not_specified Likely_benign . . . 0.0008 . intronic . 0.0006921 . . Name\x3dOREG1513448|N/A|EGR1|PAZAR,OREG1944307|N/A|ZNF263|PAZAR . . . . . 0.0004 . 3 +22 19885548 TXNRD2 G T 32 0.242212 0.1585 . MedGen:CN169374 not_specified Benign . . . 0.2206 . intronic . 0.111493 . . Name\x3dOREG1513442|N/A|EGR1|PAZAR,OREG1944316|N/A|ZNF263|PAZAR . . . . . 0.1568 . 3 +22 19898818 TXNRD2 C A 1 0.0483227 0.0194 . . . . . . . . . intronic . 0.0060543 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . . . 2 +22 19898837 TXNRD2 A G 116 0.751198 0.5672 . . . . . . . . . intronic . 0.124701 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . 0.5632 . 1 +22 19898886 TXNRD2 C T 18 0.171526 0.1066 . MedGen:CN169374 not_specified Benign . . . 0.0892 . intronic . 0.125839 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . 0.0903 . 1 +22 19898887 TXNRD2 G A 1 0.048123 0.0193 . MedGen:CN169374 not_specified Benign . . . 0.0191 . intronic . 0.0331432 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . 0.0214 . 2 +22 19899061 TXNRD2 G C 1 0.0483227 0.0191 . . . . . . . . . intronic . 0.0058731 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . . . 2 +22 19902671 TXNRD2 C T 8 0.0585064 0.0422 . . . . . . . . . intronic . 0.0100063 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . 0.0525 . 2 +22 19902896 TXNRD2 C T 76 0.507987 0.3788 . . . . . . . . . intronic . 0.0001153 . . Name\x3dOREG1513440|N/A|EGR1|PAZAR . . . . . . . 1 +22 19905802 TXNRD2 G A 114 0.7498 0.5647 . . . . . . . . . intronic . 0.119746 . . Name\x3dOREG1944310|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR . . . . . 0.5597 . 1 +22 19906367 TXNRD2 G T 1 0.00259585 0.0001 . MedGen:CN169374 not_specified Benign . . . 0.0004 . intronic . 0.001119 . . Name\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944310|N/A|ZNF263|PAZAR . . . . . 0.0007 . 3 +22 19906370 TXNRD2 G A 7 0.0297524 0.0232 . MedGen:CN169374 not_specified Benign . . . 0.0245 . intronic . 0.0298573 . . Name\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944310|N/A|ZNF263|PAZAR . . . . . 0.0297 . 1 +22 19906511 TXNRD2 G A 30 0.168131 0.1440 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1502 synonymous_SNV exonic . 0.141783 . . Name\x3dOREG1944310|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR . . . . . 0.1476 Name\x3d96.105989 -1 +22 19907099 TXNRD2 C A 76 0.483027 0.3760 6.178 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.4121 nonsynonymous_SNV exonic . 0.309356 T . Name\x3dOREG1513443|N/A|EGR1|PAZAR . D D . . 0.3312 Name\x3d95.222680 1 +22 19907118 TXNRD2 G A 105 0.596845 0.5194 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.5443 synonymous_SNV exonic . 0.414833 . . Name\x3dOREG1944319|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR . . . . . 0.4793 Name\x3d96.062314 -2 +22 19907192 TXNRD2 A G 113 0.754393 0.5652 . . . . . . . . . intronic . 0.106415 . . Name\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944319|N/A|ZNF263|PAZAR . . . . . 0.5575 . 1 +22 19918723 TXNRD2 G A 10 0.0107827 0.0288 . . . . . . . . . intronic . 0.0041267 . . Name\x3dOREG1272801|N/A|SMARCA4|PAZAR,OREG1513434|N/A|EGR1|PAZAR . . . . . . . 1 +2 39224112 SOS1 T C 1 0.000599042 0.0040 1.576 MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Rasopathy|not_specified Benign . . . 0.0031 nonsynonymous_SNV exonic . 0.0017852 T . . . B T . . 0.0028 Name\x3d99.676631 2.5 +2 39224351 SOS1 G T 199 0.90016 0.9399 . MedGen:CN169374 not_specified Benign . . . 0.9336 . intronic . 0.0001035 . . . . . . . . 0.9369 . -2 +2 39224614 SOS1 A G 2 0.00359425 0.0304 . MedGen:CN169374 not_specified Likely_benign . . . 0.0395 . intronic . 0.0034152 . . . . . . . . . Name\x3d95.538457 -1 +2 39224615 SOS1 G GT 199 0.787939 0.9396 . MedGen:CN169374 not_specified Benign . . . 0.9317 . intronic . 0.0001035 . . . . . . . . 0.9326 Name\x3d95.538457 -1 +2 39233500 SOS1 G A 199 0.905152 0.9387 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006 Noonan_syndrome Benign . . . . . intronic . 0.0003458 . . . . . . . . . Name\x3d97.945279 -1 +2 39239386 SOS1 T G 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.715627 3 +2 39240758 SOS1 C T 1 0.000399361 0.0005 . . . . . . . . . intronic . 0.0001035 . . . . . . . . . Name\x3d98.932330 1 +2 39241107 SOS1 G A 4 0.00319489 0.0107 1.732 MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Rasopathy|not_specified|not_provided Benign . . . 0.0126 nonsynonymous_SNV exonic . 0.0079624 T . . . B T . . 0.0098 Name\x3d99.731899 0.5 +2 39249896 SOS1 A G 1 0.000199681 . 2.765 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . P D . . . Name\x3d99.762476 6 +2 39250386 SOS1 A G 1 0.00778754 0.0086 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign . . . 0.0101 . intronic . 0.0091396 . . . . . . . . 0.0077 Name\x3d97.552488 -1 +2 39262348 SOS1 C G 1 0.00279553 0.0153 . 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 . . . 0.0170 . intronic . 0.0076519 . . . . . . 0.2881 0.442 0.0081 Name\x3d99.329274 -1 +2 39278394 SOS1 A G 1 0.000199681 . 5.873 MedGen:CN517202 not_provided Uncertain_significance . . . 9.205e-05 nonsynonymous_SNV exonic . 6.47e-05 D . . . P D . . . Name\x3d99.712627 6 +2 39278497 SOS1 A G 1 0.000399361 0.0006 . . . . . . . . . intronic . 9.7e-05 . . . . . . . . . Name\x3d99.176011 1 +2 39281730 SOS1 G C 199 0.891374 0.9190 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign . . . 0.9118 . intronic . 0.882977 . . . . . . . . 0.9209 . -2 +2 39281905 SOS1 G A 2 0.000998403 0.0034 . 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 . . . 0.0036 synonymous_SNV exonic . 0.0022703 . . . . . . . . 0.0045 Name\x3d99.645939 1 +2 39283784 SOS1 G C 4 0.00658946 0.0189 . . . . . . . . . intronic . 0.0023674 . . . . . . . . . Name\x3d96.839047 -1 +2 39285762 SOS1 G C 6 0.0515176 0.0116 . . . . . . . . . intronic . 0.0041849 . . Name\x3dOREG1247580|N/A|SMARCA4|PAZAR . . . . . 0.0131 Name\x3d95.281481 0 +2 39347388 SOS1 GC G 12 0.0135783 0.0221 . MedGen:CN517202 not_provided Likely_benign Name\x3dENSR00000115638|Promoter . . . . intronic . 0.0028431 . . Name\x3dOREG1165803|N/A|TFAP2C|PAZAR,OREG1247587|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.690461 1 +2 47389342 CALM2 A C 20 0.205072 0.0744 . . . . . . . . . intronic . 0.0157372 . . . . . . . . . . -2 +2 47389467 CALM2 G A 2 0.000599042 0.0005 . MedGen:C4551647,OMIM:192500,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome_1|not_specified Benign/Likely_benign . . . 0.0016 synonymous_SNV exonic . 0.0008473 . . . . . . . . 0.0010 Name\x3d95.064076 1 +2 47389842 CALM2 T C 2 0.00559105 0.0003 . . . . . . . 0.0002 . intronic . 0.0023932 . . . . . . . . 0.0003 . 0 +2 105977761 FHL2 G A 40 0.111422 0.1926 . MedGen:CN169374 not_specified Benign . . Name\x3dMIMAT0004762|hsa-miR-486-3p|Experimental 0.1949 synonymous_SNV exonic . 0.157094 . . Name\x3dOREG1542996|N/A|ETS1|PAZAR . . . . . 0.1959 Name\x3d96.130399 3 +2 105977776 FHL2 G A 25 0.0517173 0.1181 . MedGen:CN169374 not_specified Benign . . Name\x3dMIMAT0004762|hsa-miR-486-3p|Experimental 0.1187 synonymous_SNV exonic rs3087523|Body-mass-index||1E-8|PMID:30595370 0.0922368 . . Name\x3dOREG1542996|N/A|ETS1|PAZAR . . . . . 0.1270 Name\x3d95.218007 3 +2 105977903 FHL2 G C 25 0.305511 0.1415 . MedGen:CN169374 not_specified Benign . . . 0.1299 . intronic . 0.200567 . . Name\x3dOREG1542996|N/A|ETS1|PAZAR . . . 0.0006 0.062 0.1364 . 1 +2 105979730 FHL2 C A 81 0.277356 0.3797 . MedGen:CN169374 not_specified Benign . . . 0.3791 . intronic . 0.333443 . . . . . . . . 0.3766 . 1 +2 105979752 FHL2 G A 2 0.00459265 0.0100 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign . . . 0.0071 synonymous_SNV exonic . 0.0062289 . . . . . . . . 0.0126 Name\x3d95.803674 -3 +2 105979986 FHL2 C T 3 0.00219649 0.0051 . . . . . . . . . intronic . 0.0050715 . . . . . . . . . . 6 +2 179391754 TTN A G 1 0.000399361 0.0014 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . 0.0006727 . . . . . . . . 0.0011 Name\x3d97.150907 11 +2 179392015 TTN T C 2 0.00599042 0.0016 . 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 . . . 0.0018 synonymous_SNV exonic . 0.003661 . . . . . . . . 0.0018 Name\x3d98.415750 -1 +2 179392080 na A T 26 0.209065 0.1529 . MedGen:CN169374 not_specified Benign . . . 0.1492 . ncRNA_intronic . 0.163336 . . . . . . . . 0.1461 . -2 +2 179392277 TTN A G 1 0.00219649 0.0006 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 . . . 0.0017 nonsynonymous_SNV exonic . 0.0019987 T . . . B D . . 0.0016 Name\x3d97.851703 11 +2 179393111 TTN A G 15 0.0920527 0.0178 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 . . . 0.0217 nonsynonymous_SNV exonic . 0.0430007 T . . . B T . . 0.0207 Name\x3d97.461935 -1.5 +2 179393691 TTN G A 1 0.00379393 0.0157 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 . . . 0.0097 nonsynonymous_SNV exonic . 0.0086674 T . . . B T . . 0.0068 Name\x3d97.647082 -1.5 +2 179393840 TTN C T 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . 0.0036481 . . . . . . . . 0.0020 Name\x3d97.549799 11 +2 179393859 TTN A G 6 0.00459265 0.0176 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 . . . 0.0206 nonsynonymous_SNV exonic . 0.0124449 T . . . B T . . 0.0178 Name\x3d96.596643 10.5 +2 179395067 TTN C G 15 0.0509185 0.0873 . 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 . . . 0.0866 synonymous_SNV exonic . 0.0668685 . . . . . . . . 0.0874 Name\x3d97.345107 -3 +2 179395554 TTN G A 5 0.00519169 0.0154 2.704 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000629513|Promoter . . 0.0173 nonsynonymous_SNV exonic . 0.010679 T . . . B T . . 0.0143 Name\x3d98.631762 1.5 +2 179395555 TTN C A 5 0.00519169 0.0154 2.275 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000629513|Promoter . . 0.0173 nonsynonymous_SNV exonic . 0.0106467 T . . . B T . . 0.0143 Name\x3d98.631762 1.5 +2 179395560 TTN G A 15 0.0792732 0.0177 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 Name\x3dENSR00000629513|Promoter . . 0.0216 nonsynonymous_SNV exonic . 0.038376 T . . . B D . . 0.0208 Name\x3d98.631762 -2 +2 179395573 TTN C T 7 0.00658946 0.0186 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 Name\x3dENSR00000629513|Promoter . . 0.0210 nonsynonymous_SNV exonic . 0.0137062 T . . . D D . . 0.0175 Name\x3d98.634310 -3 +2 179395760 TTN G A 15 0.091254 0.0180 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 Name\x3dENSR00000629513|Promoter . . 0.0216 synonymous_SNV exonic . 0.0424445 . . . . . . . . 0.0205 Name\x3d98.908030 -2 +2 179395874 TTN C T 1 0.00319489 0.0101 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 Name\x3dENSR00000629513|Promoter . . 0.0111 synonymous_SNV exonic . 0.0084346 . . . . . . . . 0.0119 Name\x3d98.856270 10 +2 179395958 TTN T C 57 0.508187 0.2291 . 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 Name\x3dENSR00000629513|Promoter . . 0.2328 synonymous_SNV exonic . 0.333728 . . . . . . . . 0.2231 Name\x3d98.616577 -2 +2 179396162 TTN C G 9 0.0229633 0.0478 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 . . . 0.0411 nonsynonymous_SNV exonic . 0.0384989 T . . . B T . . 0.0436 Name\x3d98.243897 -1.5 +2 179396354 TTN G A 26 0.231829 0.1528 . 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 . . . 0.1473 synonymous_SNV exonic . 0.177579 . . . . . . . . 0.1451 Name\x3d98.070010 -3 +2 179396573 TTN T G 1 0.00379393 0.0156 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0099 synonymous_SNV exonic . 0.0086998 . . . . . . . . 0.0068 Name\x3d98.012148 -3 +2 179396766 TTN C T 1 0.00359425 0.0222 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 Conflicting_interpretations_of_pathogenicity . . . 0.0169 nonsynonymous_SNV exonic . 0.012212 T . . . D D . . 0.0145 Name\x3d98.023696 12 +2 179396782 TTN C G 2 0.00239617 0.0073 2.504 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0076 nonsynonymous_SNV exonic . 0.0051422 T . . . B D . . 0.0090 Name\x3d98.388015 11 +2 179397561 TTN C T 26 0.208666 0.1525 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 . . . 0.1459 nonsynonymous_SNV exonic . 0.170761 T . . . D D . . 0.1442 Name\x3d98.925808 0 +2 179398195 TTN C G 1 0.00219649 0.0021 2.784 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0028784 T . . . D D . . 0.0006 Name\x3d98.355946 10 +2 179398509 TTN C A 15 0.0780751 0.0176 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 . . . 0.0214 nonsynonymous_SNV exonic rs3731752|Bone-mineral-density-(hip)||8E-6|PMID:30172743 0.0379491 T . . . D D . . 0.0198 Name\x3d97.951876 0 +2 179398591 TTN T C 2 0.00119808 0.0019 0.513 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|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 . . . 0.0012 nonsynonymous_SNV exonic . 0.0007633 T . . . B T . . 0.0012 Name\x3d97.843738 12.5 +2 179398747 TTN T C 2 0.00599042 0.0016 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 . 0.0036481 T . . . B T . . 0.0019 Name\x3d98.041026 12.5 +2 179398823 TTN G A 26 0.232029 0.1531 . 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 . . . 0.1473 synonymous_SNV exonic . 0.17743 . . . . . . . . 0.1465 Name\x3d98.278344 -3 +2 179398989 TTN C T 1 0.000199681 . 3.802 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . D D . . . Name\x3d98.382088 8 +2 179399071 TTN G A 2 0.000798722 0.0011 3.933 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0016 nonsynonymous_SNV exonic . 0.0010155 T . . . D D . . 0.0016 Name\x3d97.817307 14 +2 179399451 TTN C T 2 0.00599042 0.0016 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 . 0.0037516 T . . . B D . . 0.0019 Name\x3d97.977310 11 +2 179399537 TTN A C 1 0.000199681 6.481e-05 0.640 MedGen:CN517202 not_provided Uncertain_significance . . . 5.559e-05 nonsynonymous_SNV exonic . 2.59e-05 D . . . D D . . . Name\x3d97.654604 8 +2 179399576 TTN C G 4 0.00459265 0.0107 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 . . . 0.0098 nonsynonymous_SNV exonic . 0.0070568 T . . . D D . . 0.0104 Name\x3d97.536771 12 +2 179399677 TTN C T 2 0.00119808 0.0054 2.339 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 . . . 0.0058 nonsynonymous_SNV exonic . 0.0037322 T . . . B D . . 0.0065 Name\x3d97.935117 -1 +2 179399936 TTN G C 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . 0.003661 . . . . . . . . 0.0020 Name\x3d97.352120 11 +2 179400586 na A G 3 0.0233626 0.0266 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen: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 . . . 0.2528 . ncRNA_intronic . 0.0001682 . . . . . . 0.0006 0.004 0.0050 . -6 +2 179400895 TTN C T 13 0.0654952 0.0161 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 . . . 0.0183 nonsynonymous_SNV exonic . 0.0303554 T . . . P T . . 0.0174 Name\x3d97.346311 -1.5 +2 179401074 TTN A C 2 0.000798722 0.0005 2.164 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|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 Uncertain_significance . . . 0.0006 nonsynonymous_SNV exonic . 0.0003363 D . . . D D . . 0.0006 Name\x3d97.555167 6 +2 179401311 na C CA 2 0.00359425 0.0090 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen: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 . . . 0.0064 . ncRNA_intronic . 0.0002781 . . . . . . . . 0.0072 . 8 +2 179401740 TTN C T 3 0.0231629 0.0244 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 . . . 0.0272 nonsynonymous_SNV exonic . 0.0262739 T . . . D T . . 0.0207 Name\x3d97.115041 -3 +2 179401742 TTN C T 2 0.00479233 0.0195 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 . . . 0.0184 nonsynonymous_SNV exonic . 0.0129235 T . . . D D . . 0.0210 Name\x3d97.243624 0 +2 179401777 TTN A T 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . 0.0036481 . . . . . . . . 0.0018 Name\x3d97.510863 11 +2 179402301 TTN A T 1 0.000199681 . . . . . . . . 1.845e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d98.381445 5 +2 179402474 TTN G A 3 0.000599042 6.481e-05 4.461 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . . . 5.533e-05 nonsynonymous_SNV exonic . 5.17e-05 T . . . D D . . . Name\x3d98.632990 10 +2 179403425 TTN G A 1 0.000199681 . 3.515 . . . Name\x3dENSR00000629516|Enhancer . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P D . . . Name\x3d97.927466 6 +2 179403593 na G A 26 0.185104 0.1530 . . . . . . . 0.1473 . ncRNA_exonic . 0.160522 . . . . . . . . 0.1444 . -2 +2 179403750 TTN C T 10 0.076877 0.0290 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 . . . 0.0326 nonsynonymous_SNV exonic . 0.0646175 T . . . D D . . 0.0287 Name\x3d98.244583 0 +2 179404197 TTN T C 3 0.00399361 0.0163 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0181 synonymous_SNV exonic . 0.012102 . . . . . . . . 0.0166 Name\x3d97.947865 9 +2 179404293 TTN G A 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . 0.0037192 . . . . . . . . 0.0020 Name\x3d98.229635 11 +2 179404402 TTN T C 6 0.00399361 0.0056 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 . 0.0047412 T . Name\x3dOREG1300393|N/A|CEBPA|PAZAR . B T . . 0.0081 Name\x3d97.955154 9.5 +2 179404461 TTN C T 1 0.000199681 . . . . . . . . 1.84e-05 synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1300393|N/A|CEBPA|PAZAR . . . . . . Name\x3d98.447063 6 +2 179404498 TTN G C 1 0.000998403 0.0043 2.862 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0044 nonsynonymous_SNV exonic . 0.0027167 T . Name\x3dOREG1300393|N/A|CEBPA|PAZAR . D D . . 0.0041 Name\x3d98.221837 15 +2 179404550 TTN G A 1 0.00139776 0.0104 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 . . . 0.0054 nonsynonymous_SNV exonic . 0.0038615 T . Name\x3dOREG1300393|N/A|CEBPA|PAZAR . D D . . 0.0041 Name\x3d98.356611 13 +2 179404628 TTN T A 13 0.0425319 0.0159 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 . . . 0.0178 nonsynonymous_SNV exonic . 0.0247927 T . Name\x3dOREG1300393|N/A|CEBPA|PAZAR . D T . . 0.0170 Name\x3d98.370116 -2 +2 179404786 na A T 26 0.232628 0.1532 . 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 . . . 0.1476 . ncRNA_intronic . 0.176259 . . . . . . . . 0.1464 Name\x3d96.277699 -5 +2 179406003 na C A 56 0.504593 0.2274 . 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 . . . 0.2808 . ncRNA_intronic . 0.185942 . . . . . . . 0.06 0.2102 Name\x3d96.588161 -5 +2 179406191 TTN C T 26 0.209265 0.1528 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 . . . 0.1476 nonsynonymous_SNV exonic . 0.170593 T . . . D D . . 0.1453 Name\x3d97.437378 0 +2 179407663 TTN G A 2 0.00119808 0.0008 . 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 . . . 0.0012 synonymous_SNV exonic . 0.0006662 . . . . . . . . 0.0012 Name\x3d98.824661 1 +2 179408713 TTN A G 11 0.115815 0.0308 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 . . . 0.0344 nonsynonymous_SNV exonic . 0.0767002 T . . . B T . . 0.0322 Name\x3d97.837078 -1.5 +2 179410282 TTN A G 3 0.00559105 0.0143 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 . 0.0104979 T . . . P T . . 0.0159 Name\x3d98.023311 10.5 +2 179410468 na A G 2 0.00599042 0.0016 . . . . . . . 0.0017 . ncRNA_intronic . 0.0035446 . . . . . . . . 0.0020 . 0 +2 179410666 TTN G A 2 0.00599042 0.0016 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 . 0.003661 T . . . D D . . 0.0019 Name\x3d97.604288 14 +2 179410704 TTN G A 1 0.00219649 0.0104 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0118 synonymous_SNV exonic . 0.0077554 . . . . . . . . 0.0108 Name\x3d98.115024 9 +2 179410815 TTN G A 2 0.00599042 0.0016 . 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 . 0.0035575 . . . . . . . . 0.0019 Name\x3d98.040376 -5 +2 179411011 TTN T C 3 0.0223642 0.0238 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 . . . 0.0258 nonsynonymous_SNV exonic . 0.0243658 T . . . D T . . 0.0205 Name\x3d98.009037 -3 +2 179411207 TTN A T 1 0.00179712 0.0032 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 . 0.0029236 T . . . D T . . 0.0035 Name\x3d98.551689 11 +2 179411212 TTN G A 1 0.000399361 0.0014 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . 0.0011319 . . . . . . . . 0.0015 Name\x3d98.603683 11 +2 179411665 na A G 41 0.327476 0.1720 . . . . . . . 0.1702 . ncRNA_intronic rs2288327|Atrial-fibrillation|1.1|7E-25|PMID:30061737 0.217481 . . . . . . . . 0.1683 . -1 +2 179412966 TTN G A 3 0.00898562 0.0315 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0322 synonymous_SNV exonic . 0.0213839 . . . . . . . . 0.0284 Name\x3d98.418712 -3 +2 179413110 TTN G A 26 0.234225 0.1529 . 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 . . . 0.1474 synonymous_SNV exonic . 0.174946 . . . . . . . . 0.1460 Name\x3d98.849898 -3 +2 179413452 TTN G A 7 0.0121805 0.0242 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . 0.0200321 . . . . . . . . 0.0315 Name\x3d98.693281 9 +2 179413657 TTN A G 1 0.000199681 0.0004 2.176 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 . . . 0.0003 nonsynonymous_SNV exonic . 0.0002393 T . . . B D . . 0.0004 Name\x3d98.663835 13 +2 179414177 TTN G A 1 0.00199681 0.0036 2.180 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0031 nonsynonymous_SNV exonic . 0.0024838 D . . . D D . . 0.0023 Name\x3d97.875263 14 +2 179414318 TTN C T 10 0.15016 0.0302 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 . . . 0.0338 nonsynonymous_SNV exonic . 0.0856975 T . . . D D . . 0.0308 Name\x3d97.748916 0 +2 179414633 na C A 41 0.323482 0.1721 . . . . . . . 0.1686 . ncRNA_intronic . 0.213367 . . . . . . . . 0.1680 . -2 +2 179414705 na A T 3 0.0223642 0.0238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen: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 . . . 0.0267 . ncRNA_intronic . 0.0248574 . . . . . . . 0.114 0.0196 Name\x3d95.211971 -5 +2 179414800 TTN C T 2 0.00599042 0.0016 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 . 0.0036675 T . . . D D . . 0.0019 Name\x3d98.128310 14 +2 179415013 na G A 2 0.00599042 0.0016 . MedGen:CN169374 not_specified Benign . . . 0.0018 . ncRNA_intronic . 0.0036351 . . . . . . . . 0.0015 . 0 +2 179415833 TTN G A 1 0.000199681 0.0001 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0003 synonymous_SNV exonic . 0.0001682 . . . . . . . . . Name\x3d98.056252 5 +2 179415942 TTN A C 1 0.000199681 . 3.814 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P D . . . Name\x3d98.531104 5 +2 179416556 TTN A C 11 0.152356 0.0319 . 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 . . . 0.0353 synonymous_SNV exonic . 0.0863702 . . . . . . . . 0.0328 Name\x3d98.389048 -3 +2 179416801 TTN A C 2 0.00599042 0.0016 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 . . . 0.0018 nonsynonymous_SNV exonic . 0.0035705 T . . . D D . . 0.0019 Name\x3d97.689141 14 +2 179417091 TTN C T 2 0.0061901 0.0019 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 . 0.0036481 T . . . D D . . 0.0020 Name\x3d97.651739 14 +2 179417415 TTN C T 1 0.000199681 . 1.435 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d98.316310 6.5 +2 179417633 TTN C T 2 0.00599042 0.0016 . 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 . 0.0037063 . . . . . . . . 0.0019 Name\x3d98.539530 -5 +2 179418144 na C T 1 0.000199681 6.488e-05 . . . . . . . 0.0002 . ncRNA_intronic . 7.12e-05 . . . . . . . . 0.0001 . 2 +2 179418306 TTN C T 1 0.000199681 0.0009 3.208 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0009 nonsynonymous_SNV exonic . 0.0005304 T . . . B T . . 0.0010 Name\x3d98.550306 8.5 +2 179419342 TTN G A 1 0.000199681 . 4.209 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 6.5e-06 T . . . D D . . . Name\x3d97.504981 8 +2 179419792 TTN G A 3 0.00179712 0.0076 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 . . . 0.0037 nonsynonymous_SNV exonic . 0.0028201 T . . . D T . . 0.0045 Name\x3d97.072213 15 +2 179421609 TTN C T 10 0.0842652 0.0291 . 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 . . . 0.0328 synonymous_SNV exonic . 0.066364 . . . . . . . . 0.0291 Name\x3d96.675892 -3 +2 179421694 TTN A G 56 0.507188 0.2273 -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 . . . 0.2312 nonsynonymous_SNV exonic . 0.33788 T . . . B T . . 0.2206 Name\x3d96.436715 -1.5 +2 179422073 TTN G A 1 0.000199681 . 2.379 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D D . . . Name\x3d96.873272 8 +2 179422181 TTN C T 1 0.00259585 0.0040 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 . . . 0.0025 nonsynonymous_SNV exonic . 0.0030401 T . . . B T . . 0.0010 Name\x3d97.464763 12.5 +2 179422286 na C A 1 0.000798722 0.0024 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0028 . ncRNA_intronic . 0.001837 . . . . . . 0.0001 0.044 0.0025 Name\x3d95.739189 9 +2 179422669 TTN G T 2 0.00219649 0.0007 1.974 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0009 nonsynonymous_SNV exonic . 0.0010026 D . . . D D . . 0.0001 Name\x3d97.344853 14 +2 179422834 TTN C A 1 0.000199681 . 1.943 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B D . . . Name\x3d97.338187 5 +2 179423099 TTN A G 3 0.0223642 0.0238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0264 synonymous_SNV exonic . 0.0252713 . . . . . . . . 0.0208 Name\x3d98.386890 -3 +2 179423168 TTN T C 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d98.558322 5 +2 179424048 TTN T C 9 0.0161741 0.0341 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0312 synonymous_SNV exonic . 0.0231562 . . . . . . . . 0.0324 Name\x3d98.373604 -3 +2 179424558 TTN C T 1 0.00279553 0.0103 . 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 . . . 0.0112 synonymous_SNV exonic . 0.0086351 . . . . . . . . 0.0118 Name\x3d98.078554 -3 +2 179424734 TTN C T 1 0.000199681 . 4.062 . . . . . . 1.844e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d98.252257 8 +2 179424834 TTN C T 1 0.000199681 0.0001 . 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 . . . 0.0001 synonymous_SNV exonic . 9.06e-05 . . . . . . . . 0.0001 Name\x3d97.728468 13 +2 179425470 TTN G A 1 0.000199681 . . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 3.697e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d97.156711 5 +2 179425988 TTN G A 2 0.000399361 0.0011 3.592 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0008667 T . . . D D . . 0.0007 Name\x3d97.935487 14 +2 179426219 TTN T C 1 0.000399361 0.0004 0.707 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 . . . 0.0004 nonsynonymous_SNV exonic . 0.0003299 T . . . B T . . 0.0002 Name\x3d98.338412 6.5 +2 179426596 TTN C T 2 0.000599042 0.0007 2.154 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0009 nonsynonymous_SNV exonic . 0.0006339 T . . . B T . . 0.0009 Name\x3d98.466657 8.5 +2 179426682 TTN T C 1 0.000199681 . . . . . . . . 1.856e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d98.480377 5 +2 179427186 TTN A G 57 0.508786 0.2291 . 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 . . . 0.2325 synonymous_SNV exonic . 0.337078 . . . . . . . . 0.2228 Name\x3d97.378453 -3 +2 179427536 TTN T C 57 0.508387 0.2291 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 . . . 0.2347 nonsynonymous_SNV exonic . 0.337777 T . . . B T . . 0.2229 Name\x3d96.753193 -1.5 +2 179428119 TTN C T 4 0.00778754 0.0098 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0077 synonymous_SNV exonic . 0.0081629 . . . . . . . . 0.0073 Name\x3d96.961404 15 +2 179428299 TTN G T 2 0.00579073 0.0016 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 . 0.003564 T . . . D D . . 0.0018 Name\x3d98.365337 14 +2 179429004 TTN G A 3 0.0221645 0.0238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . 0.0243399 . . . . . . . . 0.0206 Name\x3d96.521228 -3 +2 179429301 TTN A G 1 0.00299521 0.0047 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0056 synonymous_SNV exonic . 0.005194 . . . . . . . . 0.0065 Name\x3d96.694037 -1 +2 179429612 TTN A G 2 0.000599042 0.0005 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 . 0.0002911 T . . . P D . . 0.0007 Name\x3d97.112428 11 +2 179430060 TTN G T 3 0.0221645 0.0238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . 0.0251484 . . . . . . . . 0.0206 Name\x3d96.002088 -3 +2 179430105 TTN C T 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d96.614760 5 +2 179430137 TTN T G 1 0.000399361 0.0002 . 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 . . . 0.0002 synonymous_SNV exonic . 0.0001294 . . . . . . . . . Name\x3d95.233752 3 +2 179430997 TTN G A 41 0.342252 0.1717 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 . . . 0.1697 nonsynonymous_SNV exonic . 0.223128 T . . . P T . . 0.1669 Name\x3d97.147702 -1.5 +2 179431076 TTN C G 8 0.00738818 0.0248 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 . . . 0.0181 nonsynonymous_SNV exonic . 0.0144112 D . . . D D . . 0.0200 Name\x3d97.079100 -4 +2 179431594 TTN A G 3 0.0223642 0.0238 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 . . . 0.0258 nonsynonymous_SNV exonic . 0.0250967 T . . . D D . . 0.0207 Name\x3d96.772015 0 +2 179431797 TTN A T 15 0.0926518 0.0187 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0223 synonymous_SNV exonic . 0.0441391 . . . . . . . . 0.0208 Name\x3d97.244511 -3 +2 179432004 TTN A G 2 0.00119808 0.0001 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen: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 . . . 0.0004 synonymous_SNV exonic . 0.0003428 . . . . . . . . 0.0009 Name\x3d98.118295 11 +2 179432185 TTN A G 52 0.129992 0.3247 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 . . . 0.3015 nonsynonymous_SNV exonic . 0.23653 T . . . P T . . 0.3030 Name\x3d97.904737 -1.5 +2 179433221 TTN T C 3 0.0223642 0.0238 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 . . . 0.0258 nonsynonymous_SNV exonic . 0.0250902 T . . . B T . . 0.0209 Name\x3d97.078343 -1.5 +2 179433580 TTN T C 3 0.0223642 0.0238 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 . . . 0.0257 nonsynonymous_SNV exonic . 0.0253166 T . . . B T . . 0.0206 Name\x3d97.401979 -1.5 +2 179433654 TTN C T 2 0.000399361 0.0005 . 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 . . . 0.0009 synonymous_SNV exonic . 0.0008603 . . . . . . . . 0.0011 Name\x3d96.965696 -1 +2 179434139 TTN A G 3 0.0223642 0.0238 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 . . . 0.0258 nonsynonymous_SNV exonic . 0.0251355 T . . . D T . . 0.0207 Name\x3d96.628499 -3 +2 179434303 TTN A G 1 0.000199681 . 2.873 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 . . . 3.826e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . B T . . 0.0001 Name\x3d98.321363 6.5 +2 179434516 TTN C T 15 0.0792732 0.0183 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 . . . 0.0223 nonsynonymous_SNV exonic . 0.0397602 T . . . P T . . 0.0202 Name\x3d98.098843 -1.5 +2 179435337 TTN T G 11 0.143171 0.0316 . 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 . . . 0.0353 synonymous_SNV exonic . 0.0841645 . . . . . . . . 0.0327 Name\x3d96.850534 -3 +2 179435418 TTN T C 1 0.00599042 0.0060 . 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 . . . 0.0051 synonymous_SNV exonic . 0.0060737 . . . . . . . . 0.0059 Name\x3d98.050815 -1 +2 179436020 TTN G A 26 0.208067 0.1512 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 . . . 0.1452 nonsynonymous_SNV exonic . 0.169823 T . . . D D . . 0.1442 Name\x3d98.349158 0 +2 179436257 TTN T C 1 0.000399361 0.0004 0.906 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen: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|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Uncertain_significance . . . 0.0004 nonsynonymous_SNV exonic . 0.0003234 T . . . B T . . 0.0002 Name\x3d98.506059 6.5 +2 179436303 TTN G C 1 0.000199681 . . . . . . . . 9.268e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d98.753032 5 +2 179437034 TTN C G 1 0.00159744 0.0060 2.191 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0036 nonsynonymous_SNV exonic . 0.003053 T . . . P T . . 0.0024 Name\x3d98.728459 12.5 +2 179438235 TTN T C 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . 0.0027943 . . . . . . . . 0.0019 Name\x3d98.052107 11 +2 179438866 TTN C T 9 0.0978435 0.0292 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 . . . 0.0328 nonsynonymous_SNV exonic . 0.0704842 T . . . D D . . 0.0292 Name\x3d98.246934 0 +2 179439511 TTN C T 1 0.000199681 6.486e-05 4.171 MedGen:CN517202 not_provided Uncertain_significance . . . . nonsynonymous_SNV exonic . 7.12e-05 T . . . D D . . . Name\x3d98.890331 8 +2 179440029 TTN G A 50 0.146565 0.3221 . 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 . . . 0.2981 synonymous_SNV exonic . 0.237216 . . . . . . . . 0.2975 Name\x3d98.031764 -3 +2 179440182 TTN A G 1 0.000599042 0.0071 . 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 . . . 0.0045 synonymous_SNV exonic . 0.0029042 . . . . . . . . 0.0051 Name\x3d97.883991 -1 +2 179441119 TTN G A 1 0.00778754 6.483e-05 2.369 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign . . . 3.815e-05 nonsynonymous_SNV exonic . 0.002238 T . . . B T . . 0.0001 Name\x3d97.104464 0.5 +2 179441295 TTN T C 1 0.00299521 0.0073 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 . 0.0073091 D . . . D D . . 0.0092 Name\x3d97.654685 -2 +2 179441738 TTN A G 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d98.766990 5 +2 179441932 TTN G A 1 0.000998403 0.0051 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 . . . 0.0046 nonsynonymous_SNV exonic . 0.0034023 D . . . P D . . 0.0052 Name\x3d98.158697 14 +2 179442292 na TA T 26 0.0678914 0.1117 . . . . . . . 0.1652 . ncRNA_intronic . 0.002335 . . . . . . . . 0.1192 . -2 +2 179442784 TTN C G 1 0.000798722 0.0021 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 . 0.0019211 D . . . D D . . 0.0031 Name\x3d98.280985 14 +2 179443540 TTN A G 11 0.135982 0.0317 . 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 . . . 0.0353 synonymous_SNV exonic . 0.0825474 . . . . . . . . 0.0327 Name\x3d98.237475 -3 +2 179444137 na A G 42 0.347444 0.1730 . MedGen:CN169374 not_specified Benign . . . 0.1733 . ncRNA_intronic . 0.226271 . . . . . . . . 0.1688 . -2 +2 179444166 na G A 1 0.000399361 . . . . . . . . 7.811e-05 . ncRNA_intronic . 8.41e-05 . . . . . . . . . . 2 +2 179444289 TTN A G 5 0.0283546 0.0256 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0276 synonymous_SNV exonic . 0.0290553 . . . . . . 0.0001 0.016 0.0225 Name\x3d97.948089 -3 +2 179444626 na A C 3 0.0223642 0.0240 . . . . . . . 0.0258 . ncRNA_intronic . 0.0250191 . . . . . . . . 0.0207 . -2 +2 179444768 TTN C G 214 0.994609 0.9999 -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 . 0.947562 T . . . B T . . 0.9999 Name\x3d98.226625 -1.5 +2 179444939 TTN C T 48 0.351238 0.1781 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 . . . 0.1782 nonsynonymous_SNV exonic . 0.233192 T . . . B T . . 0.1769 Name\x3d97.290230 -1.5 +2 179446381 TTN C T 8 0.00579073 0.0177 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 . . . 0.0229 nonsynonymous_SNV exonic . 0.015168 T . . . B T . . 0.0219 Name\x3d97.423139 10.5 +2 179447848 TTN T C 58 0.513778 0.2299 . 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 . . . 0.2388 synonymous_SNV exonic . 0.339782 . . . . . . . . 0.2244 Name\x3d96.583328 -3 +2 179448315 na A C 5 0.0391374 0.0257 . MedGen:CN169374 not_specified Benign . . . 0.0401 . ncRNA_exonic . 0.0308664 . . . . . . . . 0.0227 . -2 +2 179448967 na A AAAC 5 0.0920527 0.0247 . . . . . . . 0.0271 . ncRNA_intronic . 0.002031 . . . . . . . . 0.0237 . -2 +2 179449131 TTN G A 7 0.0107827 0.0350 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 . . . 0.0377 nonsynonymous_SNV exonic . 0.0270889 T . . . P D . . 0.0426 Name\x3d98.438228 -3 +2 179449186 TTN G A 2 0.0129792 0.0016 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 . 0.0079624 T . . . D T . . 0.0028 Name\x3d98.684260 -3 +2 179449579 TTN C T 2 0.00599042 0.0016 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 . 0.003661 D . . . D D . . 0.0019 Name\x3d98.610841 14 +2 179451420 TTN G A 56 0.507588 0.2261 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 . . . 0.2315 nonsynonymous_SNV exonic . 0.336522 T . . . B T . . 0.2197 Name\x3d97.427326 -1.5 +2 179451906 TTN G A 2 0.0131789 0.0058 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0063 synonymous_SNV exonic . 0.0091525 . . . . . . . . 0.0053 Name\x3d97.456756 -3 +2 179453429 TTN G A 4 0.00579073 0.0124 -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 . . . 0.0140 nonsynonymous_SNV exonic . 0.0097153 T . . . B T . . 0.0163 Name\x3d98.010315 10.5 +2 179454394 TTN A G 57 0.51238 0.2297 . 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 synonymous_SNV exonic . 0.335668 . . . . . . . . 0.2249 Name\x3d98.402423 -3 +2 179454530 TTN C T 1 0.000998403 0.0040 3.623 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0043 nonsynonymous_SNV exonic . 0.0025614 T . . . D D . . 0.0043 Name\x3d98.527623 14 +2 179455207 TTN T C 57 0.51238 0.2297 . 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 . . . 0.2345 synonymous_SNV exonic . 0.339491 . . . . . . . . 0.2242 Name\x3d97.804101 -3 +2 179455352 TTN C T 1 0.00119808 0.0044 3.890 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0066 nonsynonymous_SNV exonic . 0.0037839 T . . . D D . . 0.0043 Name\x3d97.286035 2 +2 179455595 TTN T C 1 0.000199681 . 0.486 . . . . . . 1.845e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d98.384777 6.5 +2 179456310 na C G 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 6.5e-06 . . . . . . . . . . 2 +2 179457147 TTN G A 27 0.213059 0.1522 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 . . . 0.1466 nonsynonymous_SNV exonic . 0.168329 T . . . B T . . 0.1473 Name\x3d98.571913 -1.5 +2 179457446 na A G 20 0.10004 0.0251 . . . . . . . . . ncRNA_intronic . 0.0093207 . . . . . . . . . . -2 +2 179457457 na G T 1 0.000199681 . . . . . . . . 1.846e-05 . ncRNA_intronic . 1.29e-05 . . . . . . . . . . 2 +2 179457928 TTN G T 1 0.000199681 . . . . . . . . 1.843e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d97.299100 5 +2 179458591 TTN C T 27 0.21246 0.1521 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 . . . 0.1469 nonsynonymous_SNV exonic . 0.17005 T . . . D D . . 0.1473 Name\x3d97.179832 0 +2 179460433 TTN G A 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . 0.0035963 . . . . . . . . 0.0018 Name\x3d97.061917 11 +2 179460557 na A T 5 0.0285543 0.0254 . . . . . . . 0.0383 . ncRNA_intronic . 0.0235702 . . . . . . . . 0.0208 . -2 +2 179462494 TTN A G 50 0.126997 0.3239 . 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 . . . 0.3004 synonymous_SNV exonic . 0.234699 . . . . . . . . 0.3001 Name\x3d96.777310 -3 +2 179462580 na T C 1 0.000199681 6.484e-05 . . . . . . . 1.847e-05 . ncRNA_intronic . 1.29e-05 . . . . . . . . . . 2 +2 179462796 na A G 1 0.000199681 6.48e-05 . MedGen:CN169374 not_specified Likely_benign . . . 1.844e-05 . ncRNA_intronic . 6.5e-06 . . . . . . 0.0012 0.106 . . 2 +2 179463422 na A G 1 0.00219649 0.0080 . . . . . . . 0.0096 . ncRNA_intronic . 0.005912 . . . . . . . . 0.0103 . -2 +2 179463446 na T TA 9 0.0265575 0.0296 . . . . . . . 0.0324 . ncRNA_intronic . 0.0010479 . . . . . . . . 0.0295 . -2 +2 179463823 na T A 5 0.00658946 0.0066 . . . . . . . 0.0079 . ncRNA_intronic . 0.0012225 . . . . . . . . 0.0065 . 8 +2 179463991 TTN C T 1 0.00359425 0.0106 . 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 . . . 0.0123 synonymous_SNV exonic . 0.0086933 . . . . . . . . 0.0110 Name\x3d98.229485 -3 +2 179464245 na A G 5 0.0285543 0.0255 . . . . . . . 0.0280 . ncRNA_intronic . 0.0270566 . . . . . . . . 0.0225 . -2 +2 179464527 TTN T C 57 0.51278 0.2300 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 . . . 0.2354 nonsynonymous_SNV exonic . 0.340966 T . . . B T . . 0.2261 Name\x3d98.386272 -1.5 +2 179464637 na A T 1 0.00219649 0.0021 . . . . . . . . . ncRNA_intronic . 0.0002652 . . . . . . . . . . 0 +2 179465706 TTN A T 1 0.000199681 0.0004 1.091 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0004592 T . . . P D . . 0.0007 Name\x3d98.204063 11 +2 179466859 TTN A G 1 0.000599042 0.0001 2.502 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 . . . 9.266e-05 nonsynonymous_SNV exonic . 6.47e-05 T . . . P D . . . Name\x3d98.970412 3 +2 179467070 TTN A G 1 0.000199681 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign . . . 7.385e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d98.808645 3 +2 179467226 TTN G C 3 0.00159744 0.0005 . 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 . . . 0.0016 synonymous_SNV exonic . 0.0007891 . . . . . . . . 0.0007 Name\x3d98.876456 3 +2 179468704 TTN A G 2 0.000798722 0.0014 1.896 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 nonsynonymous_SNV exonic . 0.0005563 T . . . B T . . 0.0008 Name\x3d98.668818 12.5 +2 179469386 na A G 12 0.119209 0.0365 . . . . . . . 0.0420 . ncRNA_intronic . 0.0654519 . . . . . . . . 0.0358 . -2 +2 179470047 na C A 7 0.0832668 0.0117 . . . . . . . 0.0151 . ncRNA_exonic . 0.0332143 . . . . . . . . 0.0133 . -2 +2 179472223 TTN A G 3 0.00459265 0.0147 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 . . . 0.0171 nonsynonymous_SNV exonic . 0.0122832 D . . . D D . . 0.0143 Name\x3d98.157111 0 +2 179472292 TTN T A 3 0.0295527 0.0232 1.552 . . . . . . 0.0261 nonsynonymous_SNV exonic . 0.0269919 T . . . B T . . 0.0204 Name\x3d97.739847 2.5 +2 179472319 TTN C T 1 0.00119808 0.0018 3.630 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0026 nonsynonymous_SNV exonic . 0.0019275 T . . . D D . . 0.0030 Name\x3d97.771092 14 +2 179472693 TTN A G 3 0.0305511 0.0231 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0263 synonymous_SNV exonic . 0.0282079 . . . . . . . . 0.0205 Name\x3d98.031019 -3 +2 179472825 na T C 14 0.0107827 0.0208 . MedGen:CN169374 not_specified Benign . . . 0.0246 . ncRNA_intronic . 0.0158148 . . . . . . . . 0.0226 . -2 +2 179473238 na C A 1 0.000199681 0.0002 . . . . . . . 0.0004 . ncRNA_intronic . 0.0002652 . . . . . . . . . . 2 +2 179473705 na G A 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 2 +2 179474075 TTN C T 1 0.000199681 . 3.675 . . . . . . 1.856e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . D D . . . Name\x3d97.878535 8 +2 179474466 TTN C T 3 0.0299521 0.0232 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0263 synonymous_SNV exonic . 0.0266361 . . . . . . . . 0.0204 Name\x3d98.156662 -3 +2 179474668 TTN G A 7 0.0726837 0.0114 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 . . . 0.0142 nonsynonymous_SNV exonic . 0.0323605 T . . . D D . . 0.0131 Name\x3d98.569477 0 +2 179474787 na T C 2 0.00599042 0.0016 . . . . . . . 0.0018 . ncRNA_intronic . 0.0036804 . . . . . . . . 0.0019 . 0 +2 179477267 TTN T G 3 0.00638978 0.0202 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 . . . 0.0232 nonsynonymous_SNV exonic . 0.015472 T . . . P T . . 0.0198 Name\x3d98.093837 -1.5 +2 179477332 na ATT AT 55 . . . . . . . . . . . ncRNA_intronic . . . . . . . . . . . . 12 +2 179477435 na C T 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 2 +2 179477476 na T G 5 0.0361422 0.0251 . . . . . . . 0.0318 . ncRNA_intronic . 0.031041 . . . . . . . . 0.0219 . -2 +2 179477529 TTN C G 2 0.00599042 0.0016 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 . . . 0.0019 nonsynonymous_SNV exonic . 0.0037192 T . . . D T . . 0.0019 Name\x3d98.127878 11 +2 179477717 TTN A G 7 0.0736821 0.0114 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0142 synonymous_SNV exonic . 0.0325352 . . . . . . . . 0.0130 Name\x3d97.645943 -3 +2 179477802 na G A 1 0.000599042 . . . . . . . . 5.547e-05 . ncRNA_intronic . 3.88e-05 . . . . . . 0.0267 0.274 . Name\x3d96.501613 1 +2 179478639 TTN T A 2 0.00599042 0.0016 . 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 . 0.0036869 . . . . . . . . 0.0019 Name\x3d98.081437 -5 +2 179478829 TTN C T 1 0.000199681 . 3.307 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d98.888834 8 +2 179479118 na A AT 5 0.0365415 0.0251 . . . . . . . 0.0277 . ncRNA_exonic . 0.0009444 . . . . . . . . 0.0227 . -2 +2 179479245 TTN C T 7 0.072484 0.0113 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0142 synonymous_SNV exonic . 0.0318883 . . . . . . . . 0.0127 Name\x3d98.166193 -3 +2 179479741 na G A 4 0.0938498 0.0227 . . . . . . . 0.0314 . ncRNA_intronic . 0.0536604 . . . . . . . . 0.0209 . -2 +2 179482089 TTN C T 1 0.00299521 0.0067 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 . . . 0.0157 nonsynonymous_SNV exonic . 0.0064359 T . . . D D . . 0.0088 Name\x3d98.383064 12 +2 179482280 na G A 1 0.000199681 . . . . . . . . 4.665e-05 . ncRNA_intronic . 1.29e-05 . . . . . . . . . . 2 +2 179482309 na CAATT C 7 0.081869 0.0116 . . . . . . . . . ncRNA_intronic . 0.0056862 . . . . . . . . . . -2 +2 179482533 TTN G T 2 0.00599042 0.0016 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 . 0.0036804 T . . . B T . . 0.0019 Name\x3d97.907411 12.5 +2 179482852 na G A 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 1.29e-05 . . . . . . . . . . 2 +2 179482937 TTN C T 1 0.000599042 0.0026 2.837 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0025 nonsynonymous_SNV exonic . 0.0018046 T . . . D T . . 0.0023 Name\x3d98.210362 11 +2 179482994 TTN G A 4 0.00139776 0.0038 2.977 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0034 nonsynonymous_SNV exonic . 0.0024644 D . . . D D . . 0.0029 Name\x3d97.859568 18 +2 179483040 TTN C T 1 0.000199681 . . . . . . . . 1.843e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d98.198089 5 +2 179484892 na T A 5 0.0363419 0.0249 . . . . . . . . . ncRNA_exonic . 0.0053428 . . . . . . . . . . -2 +2 179485521 TTN A T 1 0.000199681 . -1.228 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d97.639538 6.5 +2 179485599 TTN A G 5 0.0363419 0.0250 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0278 synonymous_SNV exonic . 0.0312739 . . . . . . . . 0.0224 Name\x3d98.705858 -3 +2 179485707 TTN G A 1 0.000199681 . . . . . . . . 3.701e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d98.669136 5 +2 179486037 TTN C A 1 0.00219649 0.0070 3.020 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0068 nonsynonymous_SNV exonic . 0.0048253 T . . . D D . . 0.0086 Name\x3d98.183556 14 +2 179486376 TTN C T 2 0.00339457 0.0016 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 . 0.0027943 T . . . D D . . 0.0019 Name\x3d97.755334 2 +2 179486478 MIR548N T C 1 0.00219649 0.0106 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen: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 . . . 0.0124 . ncRNA_intronic . 0.0078136 . . . . . . 0.5138 0.574 0.0109 . 6 +2 179487314 MIR548N C CT 5 0.0391374 0.0251 . . . . . . . . . ncRNA_intronic . 0.0003074 . . . . . . . . . . -2 +2 179495795 TTN C T 1 0.000199681 . . . . . . . . 1.845e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d98.821571 5 +2 179497025 TTN A G 2 0.0395367 0.0039 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0066 synonymous_SNV exonic . 0.0166169 . . . . . . . . 0.0036 Name\x3d97.940713 -3 +2 179497133 TTN C T 3 0.00698882 0.0427 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0345 synonymous_SNV exonic . 0.0189713 . . . . . . . . 0.0290 Name\x3d98.156356 -3 +2 179498022 TTN G A 1 0.00119808 6.487e-05 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0002 synonymous_SNV exonic . 0.0008473 . . . . . . . . 0.0001 Name\x3d98.742230 -1 +2 179498042 TTN T C 25 0.0509185 0.1113 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 . . . 0.1042 nonsynonymous_SNV exonic . 0.082748 T . . . D T . . 0.1098 Name\x3d98.774815 -3 +2 179498303 TTN T C 4 0.109425 0.0233 . 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 . . . 0.0249 synonymous_SNV exonic . 0.0678969 . . . . . . . . 0.0211 Name\x3d98.865320 -3 +2 179499038 MIR548N A G 4 0.109625 0.0232 . . . . . . . . . ncRNA_intronic . 0.0115716 . . . . . . . . . . -2 +2 179499530 TTN T C 3 0.0305511 0.0233 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 . . . 0.0260 nonsynonymous_SNV exonic . 0.0279751 T . . . B T . . 0.0205 Name\x3d98.890441 -1.5 +2 179500629 MIR548N C T 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 3.84e-05 . . . . . . . . . . 2 +2 179500777 TTN C T 1 0.000399361 0.0005 2.678 Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Muscular_Diseases|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 nonsynonymous_SNV exonic . 0.0003881 T . . . B T . . 0.0004 Name\x3d98.861749 8.5 +2 179500790 TTN A G 5 0.0365415 0.0250 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0278 synonymous_SNV exonic . 0.031455 . . . . . . . . 0.0220 Name\x3d98.936296 -3 +2 179501351 TTN G A 2 0.00119808 0.0043 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0052 synonymous_SNV exonic . 0.0032276 . . . . . . . . 0.0043 Name\x3d98.670542 11 +2 179505896 MIR548N A G 5 0.0365415 0.0248 . . . . Name\x3dENSR00000629524|Enhancer . . . . ncRNA_intronic . 0.004573 . . . . . . . . . Name\x3d95.322958 0 +2 179506911 MIR548N G A 2 0.00119808 0.0008 . . . . . . . 0.0018 . ncRNA_intronic . 0.0003428 . . . . . . . . . . 0 +2 179509245 MIR548N T C 3 0.00159744 0.0005 . . . . . . . 0.0023 . ncRNA_intronic . 0.000718 . . . . . . . . 0.0007 . 4 +2 179510833 MIR548N A T 4 0.10603 0.0048 . . . . . . . . . ncRNA_intronic . 7.68e-05 . . . . . . . . . . -2 +2 179513923 MIR548N A T 4 0.0934505 0.0229 . . . . . . . . . ncRNA_intronic . 0.0101292 . . . . . . . . . . -2 +2 179513966 MIR548N G A 1 0.000199681 6.507e-05 . . . . . . . 0.0003 . ncRNA_intronic . 1.94e-05 . . . . . . . . . . 2 +2 179514208 MIR548N G A 5 0.0327476 0.0073 . . . . . . . . . ncRNA_intronic . 0.0025614 . . . . . . . . . . -2 +2 179514420 MIR548N G A 3 0.0305511 0.0232 . . . . . . . . . ncRNA_intronic . 0.024781 . . . . . . . . . . -2 +2 179514433 MIR548N T C 51 0.32488 0.1999 . . . . . . . . . ncRNA_intronic . 0.0458015 . . . . . . . . . . -2 +2 179514479 MIR548N C T 2 0.00119808 0.0048 . . . . . . . . . ncRNA_intronic . 0.001022 . . . . . . . . . . 0 +2 179514508 MIR548N A C 3 0.0305511 0.0233 . . . . . . . 0.0260 . ncRNA_intronic . 0.027477 . . . . . . . . 0.0195 . -2 +2 179514941 TTN TTTTCCTCTTCAGGAGCAA T 5 0.033147 0.0078 . 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 . . . 0.0113 nonframeshift_deletion exonic . 0.000401 . . . . . . . . 0.0049 Name\x3d97.840239,97.958201 -3 +2 179515437 MIR548N T G 3 0.0307508 0.0233 . . . . . . . 0.0355 . ncRNA_intronic . 0.0230721 . . . . . . . . 0.0198 . -2 +2 179515472 MIR548N G A 2 0.00159744 0.0095 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.0192 . ncRNA_intronic . 0.0054398 . . . . . . . 0.004 0.0091 Name\x3d96.757213 -5 +2 179515475 MIR548N T C 1 0.000199681 . . . . . . . . 9.423e-05 . ncRNA_intronic . 1.94e-05 . . . . . . 0.9964 0.846 . Name\x3d96.757213 4 +2 179515483 TTN G C 2 0.0393371 0.0040 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 . . . 0.0106 nonsynonymous_SNV exonic . 0.0160865 T . . . B T . . 0.0034 Name\x3d95.484665 -1.5 +2 179516580 MIR548N G C 3 0.00838658 0.0215 . . . . . . . 0.0308 . ncRNA_intronic . 0.0199092 . . . . . . . . 0.0231 . -2 +2 179516690 TTN G A 1 0.000399361 . . MedGen:CN169374 not_specified Likely_benign . . . 4.547e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . . . . Name\x3d96.880171 5 +2 179517019 TTN A T 1 0.00279553 0.0106 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen: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 . 0.0081694 . . . . . . . . 0.0110 Name\x3d97.299074 9 +2 179517105 MIR548N G A 1 0.000199681 . . . . . . . . 1.845e-05 . ncRNA_intronic . 1.94e-05 . . . . . . . . . . 2 +2 179517605 TTN G A 1 0.00638978 0.0060 1.597 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign . . . 0.0051 nonsynonymous_SNV exonic . 0.0058925 . . . . . . . . 0.0068 Name\x3d95.465734 0.5 +2 179517632 TTN G A 2 0.00259585 0.0007 1.228 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0010 nonsynonymous_SNV exonic . 0.0010155 . . . . . . . . 0.0003 . 7.5 +2 179517654 TTN T C 5 0.0365415 0.0250 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign . . . 0.0281 synonymous_SNV exonic . 0.030226 . . . . . . . . . Name\x3d96.078236 -3 +2 179517725 MIR548N T G 1 0.000199681 . . . . . . . . 3.788e-05 . ncRNA_intronic . 2.59e-05 . . . . . . . . . . 2 +2 179518003 TTN A G 10 0.117013 0.0478 -0.768 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign . . . 0.0539 nonsynonymous_SNV exonic . 0.0002458 . . . . . . . . . . -2.5 +2 179518170 TTN T G 1 0.000199681 . 0.677 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 . . . . . . . . . . 5.5 +2 179518273 MIR548N G A 1 0.00159744 0.0109 . . . . . . . 0.0065 . ncRNA_intronic . 0.0006209 . . . . . . . . . . -2 +2 179518854 MIR548N G A 2 0.00599042 0.0016 . . . . . . . 0.0018 . ncRNA_intronic . 0.0035511 . . . . . . . . . . 0 +2 179518911 MIR548N TAGC T 42 0.109425 0.2015 . . . . . . . 0.1919 . ncRNA_intronic . 0.0009573 . . . . . . . . . . -2 +2 179519086 MIR548N A T 1 0.0413339 0.0043 . . . . . . . . . ncRNA_intronic . 0.0102966 . . . . . . . . . . -2 +2 179519330 MIR548N C A 11 0.103035 0.0156 . . . . . . . . . ncRNA_intronic . 0.0198248 . . . . . . . . . . -2 +2 179519351 MIR548N T C 11 0.102436 0.0135 . . . . . . . . . ncRNA_intronic . 0.0217074 . . . . . . . . . . -2 +2 179522337 MIR548N G A 5 0.136581 0.0087 . . . . . . . 0.0002 . ncRNA_intronic . 0.0050452 . . . . . . . . . . -2 +2 179522377 MIR548N T C 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 6.5e-06 . . . . . . . . . . 2 +2 179522513 MIR548N T C 1 0.000199681 . . . . . . . . . . ncRNA_intronic . 6.5e-06 . . . . . . . . . . 2 +2 179522795 MIR548N A G 1 0.000199681 . . . . . . . . 3.885e-05 . ncRNA_intronic . 6.5e-06 . . . . . . . . . . 2 +2 179523368 MIR548N G A 51 0.0680911 0.1885 . . . . . . . . . ncRNA_intronic . 0.0388428 . . . . . . . . . . -2 +2 179527095 TTN G A 4 0.0091853 0.0177 0.568 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign . . . 0.0275 nonsynonymous_SNV exonic . 0.0137967 . . . . . . . . . . -2.5 +2 179527475 TTN C T 5 0.0329473 0.0063 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign . . . 0.0556 synonymous_SNV exonic . 0.0011578 . . . . . . . . . Name\x3d95.326013 -1 +2 179528068 TTN C A 2 0.057508 0.0041 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 . . . 0.0064 nonsynonymous_SNV exonic . 0.0234538 T . . . P . . . 0.0045 Name\x3d95.654090 -1.5 +2 179528335 MIR548N T C 4 0.0698882 0.0228 . . . . . . . 0.0248 . ncRNA_intronic . 0.0559566 . . . . . . . . 0.0221 . -2 +2 179528378 TTN C T 14 0.259185 0.0575 2.900 MedGen:CN169374 not_specified Benign . . . 0.0642 nonsynonymous_SNV exonic . 0.135956 T . . . . . . . 0.0560 . 1.5 +2 179529273 MIR548N A G 5 0.0367412 0.0249 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign . . . 0.0281 . ncRNA_intronic . 0.030834 . . . . . . 0.0005 0.084 0.0218 . -6 +2 179529497 MIR548N T G 5 0.0369409 0.0249 . . . . . . . 0.0284 . ncRNA_intronic . 0.0304977 . . . . . . . . 0.0216 . -2 +2 179529584 TTN A T 1 0.000199681 . 2.012 . . . . . . 2.134e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D . . . . Name\x3d95.139021 5 +2 179531693 MIR548N A G 3 0.0309505 0.0233 . . . . . . . . . ncRNA_intronic . 0.0048512 . . . . . . . . . . -2 +2 179534224 MIR548N C T 1 0.000399361 0.0001 . . . . . . . 6.467e-05 . ncRNA_intronic . 7.12e-05 . . . . . . . . . . 2 +2 179534225 MIR548N G A 3 0.00838658 0.0217 . . . . . . . . . ncRNA_intronic . 0.0032923 . . . . . . . . . . -2 +2 179535068 MIR548N T C 1 0.000199681 . . . . . . . . 0.0002 . ncRNA_intronic . 1.29e-05 . . . . . . . . . . 2 +2 179537200 TTN C T 1 0.000998403 0.0043 2.829 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0064 nonsynonymous_SNV exonic . 0.0034152 T . . . B T . . 0.0036 Name\x3d96.025657 12.5 +2 179538492 MIR548N C T 1 0.000798722 0.0053 . . . . . . . . . ncRNA_intronic . 0.0005627 . . . . . . . . 0.0016 . 0 +2 179539803 TTN G A 1 0.000199681 . . MedGen:CN517202 not_provided Uncertain_significance . . . . synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d95.084435 5 +2 179539812 TTN T G 2 0.00599042 0.0016 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 . 0.0036869 T . . . B T . . 0.0018 . 11.5 +2 179539903 MIR548N C A 54 0.471246 0.2179 . . . . . . . . . ncRNA_intronic . 0.0584663 . . . . . . . . 0.2126 . -1 +2 179540461 TTN G T 3 0.00159744 0.0039 2.531 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.1039 nonsynonymous_SNV exonic . 0.0012613 . . . . . . . . . Name\x3d97.741684 -1.5 +2 179541899 TTN C G 148 0.773363 0.7498 . . . . . . . 0.6667 . intronic . 0.111965 . . . . . . . . . . 0 +2 179542046 TTN A G 1 0.000199681 . . . . . . . . 0.0833 . intronic . 1.29e-05 . . . . . . . . . . 0 +2 179542068 TTN T C 4 0.0666933 0.0003 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +2 179542674 TTN C T 1 0.00419329 0.0101 . . . . . . . 0.0094 . intronic . 0.0068628 . . . . . . . . 0.0094 . 0 +2 179543217 TTN C T 40 0.238419 0.1617 . 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.2426 synonymous_SNV exonic . 0.172566 . . . . . . . . 0.1604 Name\x3d97.837761 -2 +2 179543382 TTN T G 1 0.000199681 0.0003 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 4 +2 179543399 TTN C T 2 0.00599042 0.0016 . . . . . . . . . intronic . 0.0019594 . . . . . . . . . . 2 +2 179544427 TTN A G 2 0.00599042 0.0016 . MedGen:CN169374 not_specified Benign . . . 0.0021 . intronic . 0.0036351 . . . . . . . . 0.0017 . 2 +2 179544701 TTN A G 1 0.000199681 . 0.576 . . . . . . 1.845e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1678488|N/A|GATA2|PAZAR . B T . . . Name\x3d97.359923 7.5 +2 179544983 TTN C G 1 0.00159744 0.0019 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 . . . 0.0023 nonsynonymous_SNV exonic . 0.0015718 T . . . B T . . 0.0033 Name\x3d97.235671 2.5 +2 179545107 TTN C T 1 0.000399361 0.0003 . . . . . . . 0.0001 . intronic . 0.0001294 . . . . . . . . 0.0002 . 4 +2 179545177 TTN C T 1 0.00199681 0.0012 . . . . . . . . . intronic . 0.0002846 . . . . . . . . . . 2 +2 179545859 TTN C T 49 0.125998 0.3249 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 . . . 0.3004 nonsynonymous_SNV exonic . 0.234117 T . . . B T . . 0.3031 Name\x3d95.885390 -1.5 +2 179547455 TTN T C 3 0.00459265 0.0091 . 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 . . . 0.0080 synonymous_SNV exonic . 0.0056985 . . . . . . . . 0.0086 . 2 +2 179547465 TTN C T 2 0.00139776 0.0012 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 . . . 0.0011 nonsynonymous_SNV exonic . 0.0009508 T . . . B T . . 0.0011 . 11.5 +2 179547860 TTN A G 45 0.284944 0.1709 . . . . . . . . . intronic . 0.0357693 . . . . . . . . . . 0 +2 179548633 TTN C CT 2 0.00599042 0.0017 . . . . . . . . . intronic . 0.0003842 . . . . . . . . . . 2 +2 179548704 TTN T C 1 0.000798722 0.0029 . . . . . . . 0.0027 . intronic . 0.0017982 . . . . . . . . 0.0022 . 2 +2 179549048 TTN C T 1 0.00279553 0.0106 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.0125 . intronic . 0.0081629 . . . . . . . . 0.0111 . -4 +2 179549131 TTN C T 6 0.00539137 0.0169 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 . . . 0.0178 nonsynonymous_SNV exonic . 0.0120956 T . . . B T . . 0.0180 Name\x3d96.899228 -1.5 +2 179549407 TTN G A 4 0.00179712 0.0062 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 . . . 0.0074 nonsynonymous_SNV exonic . 0.0051552 T . . . B D . . 0.0059 Name\x3d96.752270 15 +2 179549474 TTN G A 1 0.000199681 0.0004 2.695 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 . . . 0.0004 nonsynonymous_SNV exonic . 0.0003752 T . . . B T . . 0.0001 Name\x3d96.561560 14.5 +2 179549500 TTN A G 2 0.00599042 0.0016 . . . . . . . 0.0018 . intronic . 0.0036869 . . . . . . . . 0.0020 . 2 +2 179549608 TTN G GA 2 0.00599042 0.0016 . . . . . . . 0.0025 . intronic . 0.0033505 . . . . . . . . 0.0022 . 2 +2 179549707 TTN G A 1 0.000798722 0.0023 2.765 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Likely_benign . . . 0.0047 nonsynonymous_SNV exonic . 0.0016106 T . . . B T . . 0.0021 Name\x3d98.297516 2.5 +2 179550069 TTN T C 5 0.0329473 0.0073 . 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 . . . 0.0109 . intronic . 0.00815 . . . . . . 0.0006 0.168 0.0089 Name\x3d97.283838 -3 +2 179550302 TTN C T 1 0.000199681 . 2.215 . . . . . . . nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d95.885663 6.5 +2 179550393 TTN T G 2 0.00599042 0.0016 . . . . . . . . . intronic . 0.0019594 . . . . . . . . . . 2 +2 179553542 TTN G T 6 0.00539137 0.0173 . . . . . . . 0.0183 . intronic . 0.0123737 . . . . . . . . 0.0187 . 0 +2 179553566 TTN A G 5 0.00658946 0.0065 . . . . . . . . . intronic . 0.0013583 . . . . . . . . . . 10 +2 179553730 TTN ATTTTTTTT A 7 0.110423 . . . . . . . . 0.0007 . intronic . 0.0001294 . . . . . . . . . . 0 +2 179553781 TTN T C 1 0.00139776 . . . . . . . . . synonymous_SNV exonic . 4.53e-05 . . . . . . 0.9996 0.986 . Name\x3d96.841759 4 +2 179553787 TTN A G 2 0.00119808 . . . . . . . . . synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d96.841759 3 +2 179553790 TTN A G 2 0.00119808 . . . . . . . . . synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d96.841759 3 +2 179553793 TTN A G 2 0.00119808 . . . . . . . . . synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d96.738733 3 +2 179553917 TTN G A 14 0.261581 0.0574 . . . . . . . . . intronic . 0.0241459 . . . . . . . . 0.0550 . 0 +2 179554305 TTN C T 63 0.413339 0.3829 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 . . . 0.3711 nonsynonymous_SNV exonic . 0.373372 T . . . . T . . 0.3605 Name\x3d96.163603 -1.5 +2 179554549 TTN G C 1 0.000599042 0.0002 1.700 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 . . . 0.0005 nonsynonymous_SNV exonic . 0.0002911 T . . . P D . . 0.0001 Name\x3d96.390007 7 +2 179558282 TTN T A 50 0.322284 0.1945 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 1 +2 179558366 TTN T C 55 0.477835 0.2276 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 . . . 0.2475 nonsynonymous_SNV exonic rs2042995|Waist-to-hip-ratio-adjusted-for-BMI-x-sex-interaction||6E-6|PMID:26426971 0.327027 T . . . . T . . 0.2286 Name\x3d95.986405 -1.5 +2 179563622 TTN C T 2 0.00339457 . . . . . . . . . synonymous_SNV exonic . 0.00011 . . . . . . . . . Name\x3d96.845248 3 +2 179563702 TTN C T 8 0.00938498 0.0257 . . . . . . . . . intronic . 0.0161365 . . . . . . . . . . 0 +2 179566398 TTN C G 2 0.00599042 0.0017 . . . . . . . . . intronic . 0.0020363 . . . . . . . . . . 2 +2 179566802 TTN T TA 6 0.130192 0.0277 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign . . . 0.0452 . intronic . 0.0024062 . . . . . . . . 0.0286 . -4 +2 179567230 TTN A G 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen: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 . 0.0036545 . . . . . . . . 0.0019 Name\x3d97.300910 11 +2 179567340 TTN G A 1 0.00119808 0.0104 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 . . . 0.0055 nonsynonymous_SNV exonic . 0.0039391 T . . . B T . . 0.0041 Name\x3d97.130176 10.5 +2 179567431 TTN A C 1 0.00539137 0.0016 . . . . . . . 0.0031 . intronic . 0.0046312 . . . . . . . . 0.0035 . 2 +2 179569147 TTN T C 1 0.00219649 0.0024 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0027 . intronic . 0.001824 . . . . . . . . 0.0032 . 10 +2 179569387 TTN T A 10 0.0105831 0.0301 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 . . . 0.0252 nonsynonymous_SNV exonic . 0.0191459 T . . . B T . . 0.0266 Name\x3d95.881356 -1.5 +2 179569400 TTN C T 5 0.0842652 0.0260 . 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 . . . 0.0303 synonymous_SNV exonic . 0.0474444 . . . . . . . . 0.0243 Name\x3d97.068363 -3 +2 179569436 TTN A G 5 0.096845 0.0263 . 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 . . . 0.0313 synonymous_SNV exonic . 0.0518622 . . . . . . . . 0.0248 Name\x3d97.745865 -3 +2 179569583 TTN T A 2 0.00599042 0.0016 . . . . . . . 0.0018 . intronic . 0.0036739 . . . . . . . . 0.0018 . 2 +2 179569705 TTN A G 2 0.00599042 0.0016 . MedGen:CN169374 not_specified Benign . . . 0.0018 . intronic . 0.0036675 . . . . . . 0.0004 0.008 0.0018 . 2 +2 179570114 TTN A T 5 0.0866613 0.0261 . . . . . . . 0.0379 . intronic . 0.0297732 . . . . . . . . 0.0227 . 0 +2 179570122 TTN C A 3 0.0513179 0.0239 . . . . . . . 0.0289 . intronic . 0.0215521 . . . . . . . . 0.0195 . 0 +2 179571448 TTN A G 5 0.127396 0.0255 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 . . . 0.0284 nonsynonymous_SNV exonic . 0.0753807 T . . . B T . . 0.0261 Name\x3d97.246323 -1.5 +2 179571697 TTN C T 5 0.0942492 0.0248 . MedGen:CN169374 not_specified Benign . . . 0.0393 . intronic . 0.0609436 . . . . . . . . 0.0239 . 0 +2 179572222 TTN G T 2 0.00898562 . . . . . . . . 2.179e-05 . intronic . 0.0002911 . . . . . . . . . . 2 +2 179572445 TTN C T 1 0.000199681 0.0001 3.339 MedGen:CN169374 not_specified Uncertain_significance . . . 9.21e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . P T . . . Name\x3d97.437924 6.5 +2 179574384 TTN C T 5 0.0752796 0.0257 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 synonymous_SNV exonic . 0.0460861 . . . . . . . . 0.0237 Name\x3d98.128889 -3 +2 179575295 TTN C T 1 0.000199681 0.0010 . . . . . . . . . intronic . 5.82e-05 . . . . . . . . . . 2 +2 179575511 TTN C T 11 0.0273562 0.0549 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 . . . 0.0508 nonsynonymous_SNV exonic . 0.0463448 T . . . B T . . 0.0570 Name\x3d98.412747 -1.5 +2 179575949 TTN G T 28 0.0740815 . . MedGen:CN230736 Cardiovascular_phenotype Likely_benign . . . 7.38e-05 synonymous_SNV exonic rs200655768|Epstein-Barr-virus-copy-number-in-lymphoblastoid-cell-lines||3E-7|PMID:28654678 0.0024062 . . . . . . . . . Name\x3d96.821472 -1 +2 179576855 TTN A G 1 0.000998403 0.0005 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0007 synonymous_SNV exonic . 0.0006404 . . . . . . . . 0.0009 Name\x3d98.004203 11 +2 179577736 TTN G A 2 0.00599042 0.0016 . . . . . . . 0.0018 . intronic . 0.0036287 . . . . . . . . 0.0020 . 2 +2 179577998 TTN T C 1 0.00219649 0.0020 1.184 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0022 nonsynonymous_SNV exonic . 0.0027813 T . . . P T . . 0.0005 Name\x3d97.404834 8.5 +2 179578108 TTN T TACAAA,TACAAAACAAA 1 0.0211661 0.0024 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen: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 . . . 0.0008 . intronic . 0.0009056 . . . . . . . . 0.0499 . -4 +2 179578159 TTN A G 2 0.00359425 0.0153 . . . . . . . . . intronic . 0.0114876 . . . . . . . . . . 0 +2 179578703 TTN C T 3 0.00459265 0.0045 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen: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 . . . 0.0040 synonymous_SNV exonic . 0.0045795 . . . . . . . . 0.0034 Name\x3d95.749361 15 +2 179578704 TTN G A 5 0.111422 0.0251 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 . . . 0.0281 nonsynonymous_SNV exonic . 0.0705812 T . . . B T . . 0.0256 Name\x3d95.749361 -1.5 +2 179578730 TTN G A 50 0.444688 0.2013 . 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 . . . 0.2029 synonymous_SNV exonic . 0.296794 . . . . . . . . 0.2012 Name\x3d97.007646 -3 +2 179578937 TTN A G 5 0.0804712 0.0260 . . . . . . . 0.0300 . intronic . 0.0473215 . . . . . . . . 0.0238 . 0 +2 179579093 TTN T C 40 0.247005 0.1494 -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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.1451 nonsynonymous_SNV exonic . 0.175845 T . . . B T . . 0.1506 Name\x3d96.090561 -0.5 +2 179579212 TTN T C 50 0.483427 0.2009 . 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 . . . 0.2045 synonymous_SNV exonic . 0.307622 . . . . . . . . 0.2019 Name\x3d96.792847 -2 +2 179579366 TTN G A 5 0.0800719 0.0260 . . . . . . . . . intronic . 0.0079106 . . . . . . . . . . 0 +2 179579694 TTN T A 5 0.0754792 0.0260 . MedGen:CN169374 not_specified Benign . . . 0.0302 . intronic . 0.0453293 . . . . . . . . 0.0237 . 0 +2 179579822 TTN T A 50 0.444489 0.2008 . 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 . . . 0.2026 synonymous_SNV exonic . 0.290714 . . . . . . . . 0.2005 Name\x3d96.537750 -2 +2 179579977 TTN G A 8 0.00938498 0.0259 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 . . . 0.0199 nonsynonymous_SNV exonic . 0.0163905 T . . . B T . . 0.0223 Name\x3d96.742853 10.5 +2 179580171 TTN T C 1 0.000199681 . . . . . . . . 1.904e-05 . intronic . 1.29e-05 . . . . . . . . . . 4 +2 179580210 TTN G A 5 0.111422 0.0250 . 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 . . . 0.0282 . intronic . 0.0703484 . . . . . . . . 0.0251 . -4 +2 179580434 TTN A G 3 0.0507188 0.0239 . 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 . . . 0.0430 synonymous_SNV exonic . 0.0359374 . . . . . . . . 0.0215 Name\x3d96.497784 -3 +2 179580525 TTN C T 5 0.111422 0.0251 . . . . . . . 0.0394 . intronic . 0.053738 . . . . . . . . 0.0246 . 0 +2 179581835 TTN C A 3 0.0513179 0.0239 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 . . . 0.0277 nonsynonymous_SNV exonic . 0.0369853 T . . . . T . . 0.0214 Name\x3d96.868842 -1.5 +2 179581933 TTN T G 7 0.028754 . 1.592 . . . . . . . nonsynonymous_SNV exonic . 0.0009314 T . . . D T . . . Name\x3d96.857827 1 +2 179581971 TTN C T 2 0.00599042 0.0016 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 . 0.0037192 T . . . D D . . 0.0019 Name\x3d97.234590 14 +2 179582063 TTN A T 2 0.028754 0.0021 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 . 0.0103492 T . . . B T . . 0.0027 Name\x3d96.417210 -1.5 +2 179582162 TTN C T 40 0.24401 0.1496 . . . . . . . . . intronic . 0.0347538 . . . . . . . . . . 1 +2 179582166 TTN G A 1 0.000199681 0.0002 . . . . . . . . . intronic . 4.53e-05 . . . . . . . . . . 4 +2 179582327 TTN C T 40 0.24381 0.1495 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 . . . 0.1456 nonsynonymous_SNV exonic . 0.17503 T . . . B T . . 0.1508 Name\x3d95.891581 -0.5 +2 179582537 TTN G T 50 0.444888 0.2006 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 . . . 0.2042 nonsynonymous_SNV exonic . 0.294537 T . . . . T 0.0003 0.03 0.2018 Name\x3d96.894624 -0.5 +2 179582605 TTN A G 42 0.279153 0.1523 . . . . . . . . . intronic . 0.0369594 . . . . . . . . . . 1 +2 179582760 TTN T C 1 0.00159744 0.0070 1.518 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign . . . 0.0100 nonsynonymous_SNV exonic . 0.0060737 T . . . B T . . 0.0076 Name\x3d96.831918 -3.5 +2 179582824 TTN C T 3 0.0235623 0.0077 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0114 synonymous_SNV exonic . 0.0129623 . . . . . . . . 0.0069 Name\x3d96.076578 -3 +2 179582853 TTN T C 5 0.0121805 0.0256 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 . . . 0.0295 nonsynonymous_SNV exonic . 0.0214616 T . . . B T . . 0.0308 Name\x3d96.939035 -1.5 +2 179583317 TTN G A 23 0.0734824 0.1118 . 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.1052 synonymous_SNV exonic . 0.0885305 . . . . . . . . 0.1101 Name\x3d97.103769 -3 +2 179583326 TTN T G 1 0.00499201 . 1.396 . . . . . . . nonsynonymous_SNV exonic . 0.0001617 T . . . D T 0.0012 0.03 . Name\x3d97.564293 3 +2 179583398 TTN T C 42 0.271565 0.1523 . . . . . . . 0.1481 . intronic . 0.185825 . . . . . . . . 0.1537 . 1 +2 179583496 TTN T G 40 0.238818 0.1498 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.1447 nonsynonymous_SNV exonic . 0.174739 T . . . B D . . 0.1517 Name\x3d96.218816 -3 +2 179583966 TTN C T 1 0.000199681 6.488e-05 3.412 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . B D . . . Name\x3d97.010188 8 +2 179583967 TTN G A 2 0.00599042 0.0016 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen: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 . . . 0.0019 synonymous_SNV exonic . 0.0036739 . . . . . . . . 0.0019 Name\x3d97.010188 11 +2 179584152 TTN G A 1 0.000399361 0.0001 3.575 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|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 . . . 1.849e-05 nonsynonymous_SNV exonic . 0.0001423 D . . . D T . . 0.0001 Name\x3d97.661391 16 +2 179584366 TTN G T 1 0.00279553 0.0016 . 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 . . . 0.0022 synonymous_SNV exonic . 0.0031759 . . . . . . . . 0.0033 Name\x3d96.461981 -1 +2 179584831 TTN G C 2 0.00599042 0.0016 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 . 0.003661 T . . . P T . . 0.0020 Name\x3d97.280483 12.5 +2 179585257 TTN G C 2 0.00499201 0.0016 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 . . . 0.0026 nonsynonymous_SNV exonic . 0.0038809 T . . . B T . . 0.0021 Name\x3d97.021140 0.5 +2 179585266 TTN C T 214 0.982029 0.9999 . 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 . 0.943694 . . . . . . . . 0.9999 Name\x3d97.079564 -3 +2 179585393 TTN A G 50 0.460064 0.2008 . 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 . . . 0.2129 . intronic . 0.298812 . . . . . . 0.0001 0.016 0.1985 . -3 +2 179585963 TTN A G 3 0.0513179 0.0239 . . . . . . . 0.0387 . intronic . 0.0332208 . . . . . . . . 0.0210 . 0 +2 179586604 TTN C G 8 0.0201677 0.0398 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 . . . 0.0353 nonsynonymous_SNV exonic . 0.0278651 T . . . D T . . 0.0386 Name\x3d97.768209 -3 +2 179586901 TTN G GT 2 0.00758786 0.0246 . . . . Name\x3dENSR00000629535|Enhancer . . 0.0205 . intronic . 0.0003558 . . . . . . . . 0.0223 . 1 +2 179587130 TTN C G 40 0.247005 0.1499 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|MedGen:CN517202 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|not_provided Benign/Likely_benign Name\x3dENSR00000629535|Enhancer . . 0.1449 nonsynonymous_SNV exonic . 0.176026 T . . . D T . . 0.1523 Name\x3d97.414269 -1 +2 179587546 TTN A G 5 0.0940495 0.0250 . 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|MedGen:CN517202 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|not_provided Benign/Likely_benign Name\x3dENSR00000629535|Enhancer . . 0.0273 synonymous_SNV exonic . 0.0664222 . . . . . . . . 0.0242 Name\x3d98.479550 -2 +2 179587552 TTN T C 3 0.00279553 0.0090 . 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 Name\x3dENSR00000629535|Enhancer . . 0.0121 synonymous_SNV exonic . 0.0074126 . . . . . . . . 0.0118 Name\x3d98.657078 -2 +2 179587670 TTN G A 1 0.000599042 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign Name\x3dENSR00000629535|Enhancer . . 0.0003 . intronic . 0.0001811 . . . . . . . . 0.0001 Name\x3d98.020239 2 +2 179587687 TTN T C 50 0.48722 0.2017 . . . . Name\x3dENSR00000629535|Enhancer . . 0.2059 . intronic . 0.30693 . . . . . . . . 0.2016 . 2 +2 179588535 TTN G A 3 0.00199681 0.0089 . . . . . . . 0.0046 . intronic . 0.003454 . . . . . . . . 0.0055 . 6 +2 179588908 TTN A C 1 0.00219649 0.0020 . . . . . . . 0.0016 . intronic . 0.002749 . . . . . . . . 0.0005 . 2 +2 179589058 TTN G A 2 0.0357428 0.0037 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 . . . 0.0042 nonsynonymous_SNV exonic . 0.0150904 T . . . B T . . 0.0031 Name\x3d97.299206 -1.5 +2 179589217 TTN C T 1 0.000199681 . 3.330 . . . . . . 1.856e-05 nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d97.020355 8 +2 179589241 TTN G A 3 0.0515176 0.0194 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 . . . 0.0197 nonsynonymous_SNV exonic . 0.0467652 T . . . P T . . 0.0190 Name\x3d97.726248 -1.5 +2 179589260 TTN C T 1 0.000199681 6.483e-05 3.991 . . . . . . 1.937e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . D T . . . Name\x3d97.751399 5 +2 179590133 TTN C G 2 0.000599042 0.0007 2.435 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0014 nonsynonymous_SNV exonic . 0.0006533 T . . . B T . . 0.0008 Name\x3d97.354348 8.5 +2 179590329 TTN C T 3 0.00658946 0.0149 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 . 0.0119856 D . . . D T . . 0.0173 Name\x3d98.232425 -4 +2 179591757 TTN T C 1 0.000399361 . . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 4 +2 179591917 TTN T C 2 0.00599042 0.0016 -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 . 0.003661 T . . . B T . . 0.0019 Name\x3d97.530850 12.5 +2 179592161 TTN A G 3 0.0513179 0.0239 . . . . . . . . . intronic . 0.0062742 . . . . . . . . . . 0 +2 179593270 TTN A G 1 0.00219649 0.0100 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . 0.0074449 . . . . . . . . 0.0104 Name\x3d97.545508 9 +2 179593352 TTN C T 5 0.0932508 0.0250 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.0278 nonsynonymous_SNV exonic . 0.0656654 T . . . P T . . 0.0246 Name\x3d97.031751 -1.5 +2 179593862 TTN G A 1 0.0241613 0.0063 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . . . 0.0068 synonymous_SNV exonic . 0.0238677 . . . . . . . . 0.0065 Name\x3d96.442886 -3 +2 179594059 TTN T C 2 0.00599042 0.0016 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 . . . 0.0019 nonsynonymous_SNV exonic . 0.0037904 T . . . B T . . 0.0019 Name\x3d97.083578 12.5 +2 179594653 TTN C A 1 0.000199681 . 3.147 . . . . . . 2.019e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . P T . . . Name\x3d98.247269 6.5 +2 179595117 TTN C G 46 0.348043 0.1770 . MedGen:CN169374 not_specified Benign . . . 0.1845 . intronic . 0.233147 . . . . . . . . 0.1789 . 1 +2 179595372 TTN T C 1 0.00219649 0.0099 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 . . . 0.0113 nonsynonymous_SNV exonic . 0.0074643 T . . . B T . . 0.0104 Name\x3d97.107385 10.5 +2 179595577 TTN GT GTT,G 1 0.109225 0.0284 . . . . . . . . . intronic . 0.0034962 . . . . . . . . . . 0 +2 179595588 TTN TA T 2 0.00858626 0.0197 . . . . . . . . . intronic . 0.0051099 . . . . . . . . . . 0 +2 179595589 TTN A T 3 0.0205671 0.0004 . . . . . . . . . intronic . 0.0047641 . . . . . . . . . . 0 +2 179596554 TTN T C 1 0.00199681 0.0066 -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 . . . 0.0088 nonsynonymous_SNV exonic . 0.0058667 T . . . B T . . 0.0072 Name\x3d95.103214 12.5 +2 179597242 TTN C A 1 0.000399361 0.0008 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 . . . 0.0007 nonsynonymous_SNV exonic . 0.0005369 D . . . D D . . 0.0013 Name\x3d96.928142 14 +2 179597273 TTN A G 1 0.000199681 0.0001 . 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 . . . 0.0003 synonymous_SNV exonic . 0.0001876 . . . . . . . . 0.0002 Name\x3d97.163806 9 +2 179597600 TTN C T 1 0.00359425 0.0095 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 . . . 0.0075 nonsynonymous_SNV exonic . 0.0058214 T . . . B T . . 0.0091 Name\x3d97.575959 12.5 +2 179598228 TTN A G 26 0.0295527 0.0769 . 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 . . . 0.0788 synonymous_SNV exonic . 0.0534663 . . . . . . . . 0.0792 Name\x3d96.551159 -3 +2 179599355 TTN G C 2 0.00599042 0.0016 . . . . . . . 0.0019 . intronic . 0.0034799 . . . . . . . . 0.0020 . 2 +2 179599473 TTN C G 2 0.00339457 0.0038 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 . . . 0.0041 nonsynonymous_SNV exonic . 0.0034864 T . . . P T . . 0.0038 Name\x3d97.148805 12.5 +2 179599667 TTN G C 1 0.00439297 0.0109 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 . 0.0072703 T . . . P T . . 0.0090 Name\x3d98.451773 -1.5 +2 179600303 TTN G C 1 0.00179712 0.0036 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 . 0.0031436 T . . . B T . . 0.0035 Name\x3d97.229185 12.5 +2 179600563 TTN G A 214 0.981829 0.9999 . 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 . 0.943662 . . . . . . . . 0.9999 Name\x3d96.791376 -3 +2 179600648 TTN C T 7 0.144768 0.0466 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 . . Name\x3dMIMAT0004598|hsa-miR-141-5p|Experimental 0.0498 nonsynonymous_SNV exonic . 0.0916288 T . . . . T . . 0.0479 . -1.5 +2 179603837 TTN C T 2 0.00599042 0.0016 . . . . . . . 0.0020 . intronic . 0.0025032 . . . . . . . . 0.0019 . 2 +2 179604101 TTN C T 2 0.00599042 0.0016 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 . . . 0.0019 nonsynonymous_SNV exonic . 0.0038033 T . . . B T . . 0.0019 Name\x3d97.099094 0.5 +2 179604160 TTN T G 5 0.076278 0.0439 -1.298 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0458 nonsynonymous_SNV exonic . 0.0691194 T . . . B T . . 0.0431 Name\x3d95.067253 -1.5 +2 179604366 TTN T G 5 0.0760783 0.0438 -0.781 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0458 nonsynonymous_SNV exonic . 0.0690547 T . . . B T . . 0.0435 Name\x3d95.400124 -1.5 +2 179604440 TTN A G 1 0.000399361 . -1.764 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . . . 9.203e-05 nonsynonymous_SNV exonic . 0.0002717 T . . . B T . . . Name\x3d95.247544 6.5 +2 179604742 TTN G A 5 0.0766773 0.0439 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0458 synonymous_SNV exonic . 0.0696433 . . . . . . . . 0.0433 Name\x3d96.496540 -3 +2 179604871 TTN G A 1 0.000599042 . . . . . . . . 1.844e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d97.186491 3 +2 179605180 TTN C A,T 1 0.238818 0.1308 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.1289 synonymous_SNV exonic . 0.158594 . . . . . . . . 0.1283 . -3 +2 179605380 TTN T A 1 0.00299521 0.0046 -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/Likely_benign . . . 0.0057 nonsynonymous_SNV exonic . 0.0052975 T . . . B T . . 0.0067 . -0.5 +2 179605705 TTN A G 5 0.0760783 0.0440 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0458 synonymous_SNV exonic . 0.0694299 . . . . . . . . 0.0437 . -4 +2 179605725 TTN T C 9 0.0161741 0.0170 -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 . . . 0.0182 nonsynonymous_SNV exonic . 0.0176582 T . . . B T . . 0.0185 . -6.5 +2 179605755 TTN G C 1 0.000199681 . 0.306 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . . 5.5 +2 179605991 TTN G A 3 0.00279553 0.0089 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 . . . 0.0121 nonsynonymous_SNV exonic . 0.007432 T . . . B T . . 0.0118 Name\x3d95.507677 -5.5 +2 179606172 TTN C T 2 0.000798722 0.0005 0.926 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0006 nonsynonymous_SNV exonic . 0.0003299 T . . . B T . . 0.0007 . 7.5 +2 179606538 TTN G A 12 0.273163 0.0716 1.979 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.0859 nonsynonymous_SNV exonic . 0.165819 T . . . B T . . 0.0732 Name\x3d95.604801 -1.5 +2 179606590 TTN T C 2 0.000599042 0.0008 . 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 . . . 0.0015 synonymous_SNV exonic . 0.0005433 . . . . . . . . 0.0010 . -2 +2 179610967 TTN C T 2 0.00119808 0.0043 1.745 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0046 nonsynonymous_SNV exonic . 0.0028266 T . . . B D . . 0.0041 Name\x3d97.131287 3 +2 179611279 TTN G A 1 0.000199681 . 1.499 . . . . . . . nonsynonymous_SNV exonic . 1.29e-05 T . . . D T . . . Name\x3d98.401742 5 +2 179611552 TTN C T 1 0.000199681 0.0005 1.711 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . . . 0.0003 nonsynonymous_SNV exonic . 0.0002717 T . . . B T . . 0.0005 Name\x3d98.492367 4.5 +2 179611711 TTN C A 5 0.0772764 0.0440 0.758 MedGen:CN169374 not_specified Benign . . . 0.0458 nonsynonymous_SNV exonic . 0.0696757 T . . . D D . . 0.0433 Name\x3d97.067797 4 +2 179611847 TTN T G 1 0.000998403 0.0004 . MedGen:CN169374 not_specified Likely_benign . . . 0.0002 synonymous_SNV exonic . 0.0005045 . . . . . . . . 0.0002 Name\x3d98.288260 3 +2 179611851 TTN C T 1 0.0399361 0.0008 . MedGen:CN169374 not_specified Benign . . . 0.0005 synonymous_SNV exonic . 0.0021798 . . . . . . . . 0.0007 Name\x3d97.714041 1 +2 179611875 TTN A G 1 0.0397364 0.0008 . MedGen:CN169374 not_specified Benign . . . 0.0002 synonymous_SNV exonic . 0.001727 . . . . . . . . 0.0007 Name\x3d98.259929 1 +2 179612373 TTN A C 1 0.00579073 0.0019 . MedGen:CN169374 not_specified Benign . . . 0.0031 synonymous_SNV exonic . 0.0049353 . . . . . . . . 0.0037 Name\x3d96.505474 3 +2 179612383 TTN C T 17 0.0145767 0.0498 1.322 MedGen:CN169374 not_specified Benign . . . 0.0562 nonsynonymous_SNV exonic . 0.0379943 T . . . B T . . 0.0582 Name\x3d96.567117 2.5 +2 179612511 TTN G A 1 0.000399361 0.0005 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 synonymous_SNV exonic . 0.0003363 . . . . . . . . 0.0003 . 2 +2 179612635 TTN C T 2 0.00599042 0.0018 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 Name\x3dENSR00001041498|Enhancer . . 0.0024 nonsynonymous_SNV exonic . 0.004075 T . . . B T . . 0.0022 . 2.5 +2 179612883 TTN A G 2 0.00339457 0.0108 . MedGen:CN169374 not_specified Benign . . . 0.0109 synonymous_SNV exonic . 0.0076648 . . . . . . . . 0.0128 . 0 +2 179613049 TTN A G 1 0.000399361 0.0006 0.341 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0006 nonsynonymous_SNV exonic . 0.0005239 T . . . B T . . 0.0013 . 3.5 +2 179613191 TTN T C 1 0.00259585 0.0068 0.041 MedGen:CN169374 not_specified Benign . . . 0.0109 nonsynonymous_SNV exonic . 0.0076196 T . . . B D . . 0.0093 . 0 +2 179613651 TTN G A 7 0.0109824 0.0299 . MedGen:CN169374 not_specified Benign . . . 0.0285 synonymous_SNV exonic . 0.0222248 . . . . . . . . 0.0356 . 0 +2 179613763 TTN T C 1 0.000798722 0.0003 0.715 Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN517202 Syncope|Hypertrophic_cardiomyopathy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 nonsynonymous_SNV exonic . 0.0003946 T . . . P D . . 0.0001 . 6 +2 179614952 TTN A G 214 0.97504 0.9999 . MedGen:CN169374 not_specified Benign . . . 0.9997 synonymous_SNV exonic . 0.979502 . . . . . . . . 0.9992 . 0 +2 179615318 TTN T G 1 0.000399361 . 0.356 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 0.0002393 T . . . B T . . . . 5.5 +2 179615321 TTN G T 1 0.000199681 0.0001 . MedGen:CN169374 not_specified Benign . . . 0.0002 synonymous_SNV exonic . 0.0001617 . . . . . . . . 0.0002 . 4 +2 179615887 TTN T C 202 0.733027 0.9310 0.654 MedGen:CN169374 not_specified Benign . . . 0.9248 nonsynonymous_SNV exonic rs922984|PR-interval|1.5|2E-11|PMID:30046033 0.828586 T . . . B T . . 0.9303 . 1.5 +2 179615931 TTN C G 214 0.97504 0.9999 0.163 MedGen:CN169374 not_specified Benign . . . 0.9997 nonsynonymous_SNV exonic . 0.971107 T . . . B T . . 0.9992 . 1.5 +2 179615994 TTN T C 214 0.97504 0.9999 . MedGen:CN169374 not_specified Benign . . . 0.9997 synonymous_SNV exonic . 0.979276 . . . . . . . . 0.9992 . 0 +2 179616210 TTN G A 1 0.000998403 0.0019 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0012 synonymous_SNV exonic . 0.0009573 . . . . . . . . 0.0017 Name\x3d97.129566 3 +2 179616481 TTN C T 1 0.000399361 0.0001 1.324 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 nonsynonymous_SNV exonic . 0.0005886 T . . . D D . . 0.0005 Name\x3d96.623886 6 +2 179616770 TTN GAAA GAAAA,GAA,GA,G 1 0.00179712 0.0002 . . . . . . . 0.0039 . intronic . 0.0001294 . . . . . . . . . . 2 +2 179618019 TTN T A 202 0.804513 0.9320 . . . . . . . . . intronic . 0.0004226 . . Name\x3dOREG1269466|N/A|SMARCA4|PAZAR . . . . . . . 1 +2 179620951 TTN C T 202 0.804513 0.9322 3.252 MedGen:CN169374 not_specified Benign . . . 0.9269 nonsynonymous_SNV exonic . 0.845047 T . . . B T 0.0021 . 0.9321 Name\x3d97.122867 2.5 +2 179621184 TTN G A 5 0.00519169 0.0156 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign . . . 0.0172 synonymous_SNV exonic . 0.0113323 . . . . . . . . 0.0146 . -4 +2 179621477 TTN C T 214 0.999002 1 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 1 nonsynonymous_SNV exonic . 0.937963 . . . . . . . . 1 Name\x3d96.475236 2.5 +2 179621503 TTN C T 6 0.00638978 0.0185 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 . . . 0.0209 nonsynonymous_SNV exonic . 0.0140166 T . . . B T . . 0.0176 Name\x3d97.079130 -1.5 +2 179623758 TTN C T 202 0.808906 0.9321 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 . . . 0.9270 nonsynonymous_SNV exonic . 0.852447 T . . . B T . . 0.9324 Name\x3d96.908843 -1.5 +2 179623772 TTN G A 2 0.00259585 0.0071 . 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 . . . 0.0074 synonymous_SNV exonic . 0.0054398 . . . . . . . . 0.0087 Name\x3d97.267224 -1 +2 179623939 TTN T C 214 0.998403 1 . . . . . . . 1.0000 . intronic . 0.934619 . . . . . . . . 1 . 0 +2 179628918 TTN C T 2 0.00379393 0.0152 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 . . . 0.0141 nonsynonymous_SNV exonic . 0.0103944 T . . . B T . . 0.0164 Name\x3d97.820478 -5.5 +2 179629363 TTN T C 214 0.973642 0.9999 . 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 . 0.971275 . . . . . . . . 0.9992 Name\x3d97.496194 -3 +2 179629461 TTN C T 202 0.804912 0.9322 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 . . . 0.9268 nonsynonymous_SNV exonic . 0.850164 T . . . D T . . 0.9322 Name\x3d97.484036 -3 +2 179631091 TTN A T 2 0.000798722 0.0009 . MedGen:CN169374 not_specified Benign . . . 0.0013 . intronic . 0.0008667 . . . . . . . . 0.0015 . 2 +2 179631214 TTN T C 11 0.167732 0.0677 . 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 . . . 0.0724 synonymous_SNV exonic . 0.135445 . . . . . . . . 0.0667 Name\x3d97.779455 -3 +2 179631357 TTN TA T 1 0.00199681 0.0003 . MedGen:CN169374 not_specified Benign . . . 0.0003 . intronic . 0.0007827 . . . . . . . . . . 2 +2 179631362 TTN A C 15 0.145367 0.0745 . . . . . . . 0.0757 . intronic . 0.0175548 . . . . . . . . . . 0 +2 179631364 TTN AC A 4 0.0846645 0.0236 . . . . . . . 0.0268 . intronic . 0.0001617 . . . . . . . . 0.0223 . 0 +2 179632496 TTN T C 5 0.0860623 0.0221 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.0248 nonsynonymous_SNV exonic . 0.062179 T . . . B T . . 0.0212 Name\x3d97.311493 -1.5 +2 179632598 TTN C T 1 0.00159744 0.0108 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 . . . 0.0056 nonsynonymous_SNV exonic . 0.0041655 T . Name\x3dOREG1859688|N/A|RUNX1|PAZAR . D T . . 0.0044 Name\x3d97.595183 10 +2 179632710 TTN T C 165 0.503994 0.8001 . . . . . . . 0.7967 . intronic . 0.666201 . . Name\x3dOREG1859688|N/A|RUNX1|PAZAR . . . . . 0.7988 . 1 +2 179633644 TTN G C 5 0.0866613 0.0221 . 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.0248 synonymous_SNV exonic . 0.062192 . . . . . . . . 0.0215 Name\x3d97.362301 -3 +2 179634389 TTN TA T 214 0.996605 0.1253 . . . . . . . 0.0428 . intronic . 0.00011 . . . . . . . . . . 0 +2 179634391 TTN TA T 214 0.996605 0.1252 . MedGen:CN169374 not_specified Benign . . . 0.0397 . intronic . 0.0026843 . . . . . . . . . . 0 +2 179634421 TTN T G 42 0.215455 0.0108 2.313 MedGen:CN169374 not_specified Benign . . . 0.3325 nonsynonymous_SNV exonic . 0.0071733 D . . . D T . . . Name\x3d98.579335 4 +2 179634936 TTN C T 6 0.08127 0.0454 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 . . . 0.0475 nonsynonymous_SNV exonic . 0.0730327 T . . . B T . . 0.0451 Name\x3d98.565039 -1.5 +2 179634961 TTN C A 1 0.00758786 0.0233 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 . 0.015058 T . . . D T . . 0.0220 Name\x3d98.573169 -7 +2 179635882 TTN C T 214 0.967851 0.9997 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +2 179635888 TTN C T 1 0.000199681 6.488e-05 . . . . . . . 1.848e-05 . intronic . 3.23e-05 . . . . . . . . . . 4 +2 179635919 TTN C T 11 0.0155751 0.0350 . MedGen:CN169374 not_specified Benign . . . 0.0359 . intronic . 0.0257371 . . . . . . . . 0.0377 . 0 +2 179636257 TTN T A 6 0.0814696 0.0452 . . . . . . . . . intronic . 0.012626 . . . . . . . . . . 0 +2 179637861 TTN C G 5 0.0754792 0.0440 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 . 0.068796 T . . . B T . . 0.0433 Name\x3d95.704223 -1.5 +2 179638238 TTN G A 22 0.0754792 0.1139 . 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.1078 synonymous_SNV exonic . 0.0923533 . . . . . . . . 0.1147 Name\x3d98.210169 -3 +2 179638246 TTN C G 2 0.000399361 . 1.644 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D D . . . Name\x3d98.179970 8 +2 179638721 TTN C T 5 0.0874601 0.0221 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.0253 nonsynonymous_SNV exonic . 0.0620238 T . . . D D . . 0.0221 Name\x3d98.341374 0 +2 179640152 TTN C T 1 0.000199681 . 2.105 . . . . . . 1.843e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B D . . . Name\x3d99.881833 8 +2 179641112 TTN C A 2 0.000798722 0.0009 2.291 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0013 nonsynonymous_SNV exonic . 0.0008667 T . . . P T . . 0.0015 Name\x3d99.877503 12.5 +2 179641336 TTN C T 1 0.000199681 6.483e-05 3.253 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 3.684e-05 nonsynonymous_SNV exonic . 0.0001682 T . . . D D . . . Name\x3d99.898512 8 +2 179641802 LOC101927055 A G 1 0.00579073 0.0014 . . . . . . . 0.0019 . ncRNA_exonic . 0.0038292 . . . . . . . . 0.0020 Name\x3d99.321781 1 +2 179641975 TTN C T 5 0.0752796 0.0438 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 . . . 0.0454 nonsynonymous_SNV exonic rs12476289|QT-interval|0.29|2E-6|PMID:20031603 0.0688154 T . . . P T . . 0.0430 Name\x3d99.755814 -1.5 +2 179642425 LOC101927055 G A 212 0.911542 0.9892 . 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 . . . 0.9884 . ncRNA_exonic . 0.946476 . . . . . . . . 0.9914 Name\x3d99.642426 -5 +2 179642589 TTN C G,T 212 0.000399361 . 4.476 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Uncertain_significance . . . 3.687e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . D D . . . Name\x3d99.660324 16 +2 179643775 TTN C T 1 0.00379393 0.0159 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 . . . 0.0099 nonsynonymous_SNV exonic . 0.0088356 T . . . D T . . 0.0073 Name\x3d99.754354 -3 +2 179643886 LOC101927055 A G 212 0.919928 0.9892 . . . . . . . 0.9885 . ncRNA_intronic . 0.952433 . . . . . . . . 0.9913 Name\x3d97.433063 -1 +2 179643934 LOC101927055 A G 212 0.920128 0.9892 . . . . . . . 0.9885 . ncRNA_intronic . 0.94308 . . . . . . . . 0.9916 Name\x3d98.558053 -1 +2 179644035 TTN G A 212 0.920128 0.9892 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 . . . 0.9885 nonsynonymous_SNV exonic . 0.956534 T . . . B T . . 0.9914 Name\x3d99.595224 -1.5 +2 179644160 TTN T C 5 0.0756789 0.0439 . 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 . . . 0.0571 synonymous_SNV exonic . 0.0675864 . . . . . . . . 0.0422 Name\x3d99.515780 -3 +2 179644848 TTN C G 1 0.000199681 6.482e-05 1.775 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 7.12e-05 T . . . B T . . . Name\x3d99.610085 6.5 +2 179644855 TTN T C 188 0.5002 0.8670 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 . . . 0.8643 nonsynonymous_SNV exonic . 0.70208 T . . . B T . . 0.8702 Name\x3d99.771433 -1.5 +2 179647546 TTN A G 8 0.0776757 0.0517 . 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 . . . 0.0499 synonymous_SNV exonic rs55863869|QT-interval|1.92|2E-10|PMID:29213071 0.0718878 . . . . . . . . 0.0476 Name\x3d99.800342 -3 +2 179647823 TTN C T 2 0.0828674 0.0106 . . . . . . . 0.0120 . intronic . 0.037645 . . . . . . . . 0.0090 Name\x3d97.280250 1 +2 179647824 TTN G A 6 0.0181709 0.0349 . . . . . . . 0.0335 . intronic . 0.0300966 . . . . . . . . 0.0362 Name\x3d97.280250 1 +2 179648778 TTN C A 1 0.000199681 0.0003 . MedGen:CN169374 not_specified Likely_benign . . . 0.0004 . intronic . 0.0002393 . . . . . . . . 0.0006 Name\x3d98.170684 3 +2 179649134 TTN C A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d95.914376 5 +2 179650408 TTN G A 56 0.100439 0.2103 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 . . . 0.2378 nonsynonymous_SNV exonic . 0.174571 T . . . D D . . 0.2345 Name\x3d99.739854 0 +2 179650701 TTN C T 81 0.204673 0.4251 . 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 . . . 0.4008 synonymous_SNV exonic . 0.322059 . . . . . . . . 0.4057 Name\x3d99.875789 -3 +2 179650932 TTN G A 1 0.000199681 0.0001 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d99.366185 5 +2 179654032 TTN T G 2 0.00439297 0.0136 . . . . . . . . . intronic . 0.0019275 . . . . . . . . . Name\x3d99.596408 1 +2 179654121 TTN G T 16 0.0644968 . 1.430 . . . . . Name\x3dMIMAT0000728|hsa-miR-375-3p|Experimental 0.0002 nonsynonymous_SNV exonic . 0.0020892 T . . . B D . . . Name\x3d99.519624 2 +2 179654136 TTN C A 1 0.000199681 . 3.304 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B D . . . Name\x3d99.736727 5 +2 179654695 TTN C G 2 0.00599042 0.0017 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen: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 . 0.0041267 . . . . . . . . 0.0022 Name\x3d99.723088 11 +2 179656963 TTN T C 1 0.000199681 0.0012 . . . . . . . 0.0012 . intronic . 0.000718 . . . . . . . . 0.0015 Name\x3d98.528760 3 +2 179656977 TTN A C 3 0.00958466 0.0089 . . . . . . . . . intronic . 0.0016753 . . . . . . . . . Name\x3d98.421752 7 +2 179656993 TTN A C 1 0.00339457 0.0064 . . . . . . . . . intronic . 0.0009573 . . . . . . . . . Name\x3d99.069894 3 +2 179658175 TTN C T 5 0.00758786 0.0214 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 . . . 0.0194 nonsynonymous_SNV exonic . 0.0157048 T . . . B T . . 0.0233 Name\x3d99.726320 -1.5 +2 179658310 TTN T C 1 0.00119808 0.0107 . . . . . . . 0.0054 . intronic . 0.0038421 . . . . . . . . 0.0042 Name\x3d98.229434 1 +2 179659064 TTN T C 1 0.000199681 0.0005 . . . . . . . . . intronic . 0.0001921 . . . . . . . . . . 2 +2 179659110 TTN G A 2 0.00599042 0.0017 . MedGen:CN169374 not_specified Benign . . . 0.0024 . intronic . 0.0041138 . . . . . . . . 0.0022 . 2 +2 179659334 TTN A C 2 0.0934505 0.0107 . . . . . . . . . intronic . 0.0062612 . . . . . . . . . Name\x3d97.484814 1 +2 179659722 TTN G A 1 0.000199681 . 2.255 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B D . . . Name\x3d99.709739 5 +2 179659757 TTN T C 2 0.00599042 0.0017 . 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 . 0.0041267 . . . . . . . . 0.0022 Name\x3d99.603759 11 +2 179659815 TTN C G 2 0.0119808 0.0019 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 . 0.0056015 T . . . B T . . 0.0022 Name\x3d99.732317 -1.5 +2 179659912 TTN G A 12 0.236022 0.0542 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 . . . 0.0512 nonsynonymous_SNV exonic . 0.118575 T . . . B D . . 0.0531 Name\x3d99.284283 -3 +2 179659928 TTN C A 1 0.000199681 . 1.766 . . . . . . 9.204e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . B D . . . Name\x3d99.534258 5 +2 179660030 TTN T C 4 0.101837 0.0125 . . . . . . . 0.0143 . intronic . 0.0449283 . . . . . . . . 0.0112 . 0 +2 179665231 TTN G C 1 0.000199681 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign . . . 3.68e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . . Name\x3d99.771502 3 +2 179665279 TTN G A 2 0.00599042 0.0017 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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 . 0.0041073 . . . . . . . . 0.0022 Name\x3d99.821198 11 +2 179666830 TTN G A 19 0.0313498 0.0790 . . . . . . . 0.0817 . intronic . 0.0581752 . . . . . . . . 0.0849 . 0 +2 179666956 TTN G A 1 0.000199681 . . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 7.365e-05 synonymous_SNV exonic . 5.17e-05 . . . . . . . . . Name\x3d99.685325 9 +2 179666982 TTN C A 3 0.0289537 0.0051 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 . . . 0.0066 nonsynonymous_SNV exonic . 0.0131499 T . . . D D . . 0.0059 Name\x3d99.658872 0 +2 179667090 TTN C T 107 0.703474 0.5620 . . . . . . . 0.5710 . intronic . 0.602754 . . . . . . . . 0.5384 Name\x3d99.038438 1 +2 179669199 TTN C T 1 0.000998403 0.0020 . . . . Name\x3dENSR00000629547|Promoter . . . . intronic . 0.0016905 . . . . . . . . . Name\x3d98.941845 4 +2 179669227 TTN CTGGAG C 2 0.0628994 0.0105 . . . . Name\x3dENSR00000629547|Promoter . . . . intronic . 0.0008021 . . . . . . . . 0.0086 Name\x3d98.987319,99.153827 2 +2 179669244 TTN G GA 1 0.00419329 0.0002 . . . . Name\x3dENSR00000629547|Promoter . . 0.0060 . intronic . 0.0002135 . . . . . . . . 0.0045 Name\x3d98.207101 4 +2 220283259 DES A G 214 0.886182 0.9895 . 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|MedGen:CN517202 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign Name\x3dENSR00000637249|Promoter . . 0.9891 synonymous_SNV exonic . 0.877634 . . . . . . . . 0.9877 Name\x3d99.848673 -1 +2 220283277 DES T C 214 0.866014 0.9892 . 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|MedGen:CN517202 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign Name\x3dENSR00000637249|Promoter . . 0.9886 synonymous_SNV exonic . 0.0001358 . . . . . . . . 0.9880 Name\x3d99.863755 -1 +2 220283591 DES T A 1 0.000399361 0.0002 6.000 Human_Phenotype_Ontology:HP:0001290,MedGen:C1858120|Human_Phenotype_Ontology:HP:0001319,MedGen:C2267233|Human_Phenotype_Ontology:HP:0002091,MedGen:C3277226|Human_Phenotype_Ontology:HP:0002098,MedGen:C0476273,SNOMED_CT:271825005|Human_Phenotype_Ontology:HP:0002643,MedGen:C4281993|Human_Phenotype_Ontology:HP:0002747,MedGen:C3806467|Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|Human_Phenotype_Ontology:HP:0003701,MedGen:C0221629|Human_Phenotype_Ontology:HP:0003756,MedGen:C1533847,Orphanet:ORPHA98472|Human_Phenotype_Ontology:HP:0006517,MedGen:C0034050,SNOMED_CT:10501004|Human_Phenotype_Ontology:HP:0006530,MedGen:C0206062,Orphanet:ORPHA182095|Human_Phenotype_Ontology:HP:0006903,MedGen:C4024967|Human_Phenotype_Ontology:HP:0008997,MedGen:C1866012|Human_Phenotype_Ontology:HP:0009062,MedGen:C3806604|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Generalized_hypotonia|Neonatal_hypotonia|Restrictive_ventilatory_defect|Respiratory_distress|Neonatal_respiratory_distress|Respiratory_insufficiency_due_to_muscle_weakness|Muscular_Diseases|Proximal_muscle_weakness|Skeletal_myopathy|Pulmonary_alveolar_proteinosis|Interstitial_pulmonary_abnormality|Congenital_peripheral_neuropathy|Proximal_muscle_weakness_in_upper_limbs|Infantile_axial_hypotonia|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|not_provided Uncertain_significance Name\x3dENSR00000637249|Promoter . . 0.0002 nonsynonymous_SNV exonic . 7.76e-05 D . . . D D . . . Name\x3d99.934248 12 +2 220283592 DES C T 9 0.0123802 0.0432 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,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 Name\x3dENSR00000637249|Promoter . . 0.0823 synonymous_SNV exonic . 0.0179817 . . . . . . . . 0.0352 Name\x3d99.934248 -2 +2 220283826 DES T G 214 1 1 . . . . Name\x3dENSR00000637249|Promoter . . . . intronic . 0.92777 . . . . . . . . . Name\x3d98.692797 2 +2 220284779 DES C T 133 0.529353 0.6462 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000637249|Promoter . . 0.6272 . intronic . 0.601318 . . . . . . . . 0.6303 Name\x3d98.513007 2 +2 220284873 DES G A 1 0.000399361 0.0001 6.700 Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Scapuloperoneal_weakness|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000637249|Promoter . . 0.0003 nonsynonymous_SNV exonic . 0.000207 D . . . D T . . 0.0002 Name\x3d99.830802 13 +2 220284876 DES C T 4 0.00559105 0.0145 5.554 Gene:1732,Human_Phenotype_Ontology:HP:0000776,MeSH:D065630,MedGen:C0235833,OMIM:142340,Orphanet:ORPHA2140|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,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 Name\x3dENSR00000637249|Promoter . . 0.0152 nonsynonymous_SNV exonic . 0.0106014 D . . . P D 0.0534 0.296 0.0137 Name\x3d99.830802 9 +2 220285054 DES A G 1 0.000199681 . 6.166 . . . Name\x3dENSR00000637249|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.934923 12 +2 220285088 DES C T 5 0.00419329 0.0094 . Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:CN169374 Myofibrillar_myopathy|not_specified Benign Name\x3dENSR00000637249|Promoter . . 0.0141 . intronic . 0.0093854 . . . . . . . . 0.0109 Name\x3d98.852853 2 +2 220285182 DES C A 7 0.0127796 0.0486 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000637249|Promoter . . 0.0509 . intronic . 0.035517 . . . . . . . . 0.0521 Name\x3d98.820483 2 +2 220285273 DES C T 1 0.00419329 0.0002 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign Name\x3dENSR00000637249|Promoter . . 7.369e-05 synonymous_SNV exonic . 0.0036157 . . . . . . . . 0.0001 Name\x3d99.917028 2 +2 220285309 DES C T 81 0.33746 0.3420 . 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 Name\x3dENSR00000637249|Promoter . . 0.3600 synonymous_SNV exonic . 0.336574 . . . . . . . . 0.3555 Name\x3d99.948048 -2 +2 220285395 DES G A 1 0.000399361 . . . . . Name\x3dENSR00000637249|Promoter . . 3.697e-05 . intronic . 3.88e-05 . . . . . . . . . Name\x3d99.640491 6 +2 220285666 DES G C 81 0.33766 0.3420 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign Name\x3dENSR00000637249|Promoter . . 0.3633 synonymous_SNV exonic . 0.334828 . . . . . . . . 0.3551 Name\x3d99.935688 -2 +2 220286142 DES G A 81 0.333666 0.3429 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign Name\x3dENSR00000637249|Promoter . . 0.3604 synonymous_SNV exonic . 0.337221 . . . . . . . . 0.3552 Name\x3d99.929558 -2 +2 220288562 DES C G 1 0.00539137 . . . . . Name\x3dENSR00000637249|Promoter . . 3.706e-05 . intronic . 0.0002199 . . . . . . . . . Name\x3d98.009519 4 +2 220290674 DES G A 1 0.00978435 6.496e-05 1.930 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Primary_dilated_cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign . . . 0.0001 nonsynonymous_SNV exonic . 0.0029172 D . . . P T . . 0.0001 Name\x3d99.933336 1 +3 8775589 CAV3 C T 25 0.0425319 0.1252 . 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 Name\x3dENSR00000676564|Promoter . . 0.1268 synonymous_SNV exonic . 0.0890609 . . . . . . . . 0.1248 Name\x3d97.041043 -2 +3 8775661 CAV3 C T 71 0.371006 0.2651 . 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 Name\x3dENSR00000676564|Promoter . . 0.2664 synonymous_SNV exonic . 0.292357 . . . . . . . . 0.2388 Name\x3d97.931840 -2 +3 8775702 CAV3 G A 4 0.076877 0.0585 . MedGen:CN517202 not_provided not_provided Name\x3dENSR00000676564|Promoter . . 0.0558 . intronic . 0.0510925 . . . . . . . . 0.0499 . -1 +3 8775724 CAV3 G A 3 0.000998403 0.0012 . . . . Name\x3dENSR00000676564|Promoter . . 0.0016 . intronic . 0.0012484 . . . . . . . . 0.0015 . 5 +3 8787164 CAV3 AAGCGGGTGGCTTCTGTG A 27 0.0461262 0.1362 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Likely_benign . . . 0.1399 . intronic . 0.0027361 . . . . . . . . . Name\x3d96.069285,98.419569 -1 +3 8787189 CAV3 G C 10 0.0648962 0.0933 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0874 . intronic . 0.0709823 . . . . . . . . 0.0891 Name\x3d98.419569 0 +3 8787220 CAV3 T C 38 0.152955 0.2470 . 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 . . . 0.2366 synonymous_SNV exonic . 0.188866 . . . . . . . . 0.2410 Name\x3d99.338850 -3 +3 8787313 CAV3 C G 2 0.000998403 0.0016 4.285 Human_Phenotype_Ontology:HP:0003236,MedGen:C0241005,OMIM:123320|Human_Phenotype_Ontology:HP:0006785,MedGen:C0686353,Orphanet:ORPHA263,SNOMED_CT:93153005|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832560|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C1853698,OMIM:606072,Orphanet:ORPHA97238|MedGen:C2678485,OMIM:611818|MedGen:C3280443,OMIM:614321|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Elevated_serum_creatine_phosphokinase|Limb-girdle_muscular_dystrophy|Long_QT_syndrome|Rippling_muscle_disease_2|Limb-girdle_muscular_dystrophy,_type_1C|Rippling_muscle_disease|Long_QT_syndrome_9|Distal_myopathy,_Tateyama_type|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0009 nonsynonymous_SNV exonic . 0.0011837 D . . . P T . . 0.0017 Name\x3d99.717448 9 +3 8787330 CAV3 C T 4 0.00199681 0.0025 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 . . . 0.0040 nonsynonymous_SNV exonic . 0.0028395 D . . . D T . . 0.0044 Name\x3d99.578455 12 +3 12626019 RAF1 G A 3 0.00439297 0.0094 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN230736 Rasopathy|not_specified|Cardiovascular_phenotype Benign . . Name\x3dMIMAT0000252|hsa-miR-7-5p|Experimental 0.0113 synonymous_SNV exonic . 0.0073091 . . . . . . . . 0.0112 Name\x3d99.273534 -2 +3 12626516 RAF1 G A 92 0.364617 0.3588 . MedGen:CN169374 not_specified Benign . . . 0.3591 . intronic rs3729931|Cardiac-hypertrophy||7E-7|PMID:21348951 0.0021798 . . . . . . . . 0.3652 Name\x3d95.372492 4 +3 12633168 RAF1 A G 8 0.0213658 0.0114 . MedGen:CN169374 not_specified Benign . . . 0.0132 . intronic . 0.01608 . . . . . . . . 0.0119 Name\x3d95.248269 2 +3 12641349 RAF1 A G 2 0.00459265 0.0114 . MedGen:CN169374 not_specified Likely_benign . . . 0.0146 . intronic . 0.0105303 . . . . . . . . 0.0155 . 0 +3 12641350 RAF1 A G 2 0.00459265 0.0114 . MedGen:CN169374 not_specified Likely_benign . . . 0.0146 . intronic . 0.0105367 . . . . . . . . 0.0156 . 0 +3 12641873 RAF1 C T 1 0.000199681 . . . . . . . . 1.84e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.053672 5 +3 12647830 RAF1 G A 1 0.00299521 0.0024 . . . . . . . 0.0048 . intronic . 0.0033893 . . . . . . . . 0.0042 Name\x3d99.163209 3 +3 12650482 RAF1 T A 214 1 1 . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d96.949610 1 +3 14166739 TMEM43 G C 1 0.00199681 0.0047 . . . . Name\x3dENSR00000148875|Promoter . . 0.0056 . intronic . 0.0032665 . . Name\x3dOREG1247986|N/A|SMARCA4|PAZAR,OREG1790899|N/A|RBL2|PAZAR,OREG1166145|N/A|TFAP2C|PAZAR,OREG1943771|N/A|ZNF263|PAZAR,OREG1811303|N/A|RBL2|PAZAR,OREG1777220|N/A|RBL2|PAZAR,OREG1795662|N/A|RBL2|PAZAR . . . . . 0.0037 Name\x3d99.808404 5 +3 14166813 TMEM43 G C 1 0.00119808 0.0012 . . . . Name\x3dENSR00000148875|Promoter . . . . intronic . 0.0011142 . . Name\x3dOREG1795662|N/A|RBL2|PAZAR,OREG1811303|N/A|RBL2|PAZAR,OREG1943771|N/A|ZNF263|PAZAR,OREG1166145|N/A|TFAP2C|PAZAR,OREG1247986|N/A|SMARCA4|PAZAR,OREG1790899|N/A|RBL2|PAZAR . . . . . . Name\x3d99.263684 5 +3 14166835 TMEM43 C T 27 0.245807 0.1160 . . . . Name\x3dENSR00000148875|Promoter . . . . intronic . 0.170778 . . Name\x3dOREG1247986|N/A|SMARCA4|PAZAR,OREG1790899|N/A|RBL2|PAZAR,OREG1943771|N/A|ZNF263|PAZAR,OREG1166145|N/A|TFAP2C|PAZAR,OREG1811303|N/A|RBL2|PAZAR . . . . . . Name\x3d99.413950 3 +3 14171082 TMEM43 C T 1 0.00179712 0.0082 . . . . . . . 0.0061 . intronic . 0.0041785 . . . . . . . . 0.0055 Name\x3d98.458430 3 +3 14172381 TMEM43 C T 9 0.00399361 0.0128 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0122 synonymous_SNV exonic . 0.0084928 . . . . . . . . 0.0121 Name\x3d99.696209 9 +3 14172494 TMEM43 G A 1 0.00139776 . . . . . . . . 1.885e-05 . intronic . 0.0003169 . . . . . . . . . . 2 +3 14173963 TMEM43 G T 54 0.45627 0.2917 . . . . . . . . . intronic . 0.0691194 . . . . . . . . . . 0 +3 14174002 TMEM43 G A 1 0.000199681 . . . . . . . . 1.841e-05 . intronic . 1.29e-05 . . . . . . . . . . 4 +3 14174146 TMEM43 T C 77 0.557308 0.4136 . . . . . . . 0.3986 . intronic . 0.457271 . . . . . . . . 0.4069 . 0 +3 14174170 TMEM43 G C 1 0.000199681 6.494e-05 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +3 14174318 TMEM43 G A 3 0.00499201 0.0123 . . . . . . . 0.0101 . intronic . 0.0072962 . . . . . . . . 0.0095 . 0 +3 14174427 TMEM43 A T 53 0.352636 0.2899 2.489 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.2795 nonsynonymous_SNV exonic . 0.31735 T . . . B T . . 0.2878 Name\x3d99.649266 0.5 +3 14174454 TMEM43 G T 2 0.00798722 0.0215 . MedGen:CN169374 not_specified Benign . . . 0.0190 . intronic . 0.013842 . . . . . . . . 0.0226 . 0 +3 14175262 TMEM43 T C 54 0.463259 0.2970 0.428 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.2869 nonsynonymous_SNV exonic . 0.366011 T . . . B T . . 0.2955 Name\x3d99.270300 0.5 +3 14176446 TMEM43 G A 52 0.350839 0.2821 . . . . . . . . . intronic . 0.0617909 . . . . . . . . . . 0 +3 14177251 TMEM43 G A 46 0.201877 0.2557 . . . . . . . . . intronic . 0.0472504 . . . . . . . . . . 0 +3 14177433 TMEM43 G A 1 0.000599042 0.0006 . MedGen:CN517202 not_provided Likely_benign . . . 0.0010 . intronic . 0.0007956 . . . . . . . . 0.0015 . 2 +3 14180633 TMEM43 C T 38 0.0964457 0.2079 . . . . . . . 0.2118 . intronic . 0.159856 . . Name\x3dOREG1485844|N/A|EGR1|PAZAR . . . . . 0.2149 . 2 +3 14180706 TMEM43 C T 7 0.0213658 0.0184 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0213 synonymous_SNV exonic . 0.0200838 . . Name\x3dOREG1485844|N/A|EGR1|PAZAR . . . . . 0.02 Name\x3d99.493196 -2 +3 14180732 TMEM43 G A 1 0.000199681 . 6.388 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . Name\x3dOREG1485844|N/A|EGR1|PAZAR . D D . . . Name\x3d99.462727 9 +3 14183326 TMEM43 T C 1 0.00579073 0.0104 . . . . . . . 0.0105 . UTR3 . 0.0070245 . . . . . . . . 0.0083 Name\x3d98.553780 1 +3 32148371 GPD1L G T 1 0.000199681 0.0018 . . . . Name\x3dENSR00000150479|Promoter . . . . intronic . 0.001191 . . Name\x3dOREG1193921|N/A|TFAP2C|PAZAR,OREG1660415|N/A|FOXA1|PAZAR . . . . . . Name\x3d99.635226 3 +3 32169509 GPD1L G A 1 0.000199681 . . . . . . . . . . intronic . 0.0001153 . . Name\x3dOREG1275263|N/A|SMARCA4|PAZAR . . . . . . . 3 +3 32181709 GPD1L C A 1 0.000199681 6.48e-05 . . . . . . . 0.0003 . intronic . 0.00011 . . Name\x3dOREG1275264|N/A|SMARCA4|PAZAR . . . 0.0016 0.084 . . 3 +3 32181710 GPD1L A T 1 0.000199681 6.484e-05 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance . . . 0.0003 . intronic . 0.00011 . . Name\x3dOREG1275264|N/A|SMARCA4|PAZAR . . . . 0.018 . . 3 +3 32181725 GPD1L A G 1 0.000399361 0.0001 2.478 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance . . . 3.68e-05 nonsynonymous_SNV exonic . 6.47e-05 T . Name\x3dOREG1275264|N/A|SMARCA4|PAZAR . B T . . . Name\x3d99.360262 5.5 +3 32181761 GPD1L C T 35 0.14976 0.1261 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1321 synonymous_SNV exonic . 0.129106 . . Name\x3dOREG1275264|N/A|SMARCA4|PAZAR . . . . . 0.1387 Name\x3d99.465636 -2 +3 32181798 GPD1L C T 2 0.000399361 6.482e-05 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign . . . 0.0003 synonymous_SNV exonic . 0.0001746 . . Name\x3dOREG1243675|N/A|SMARCA4|PAZAR,OREG1275264|N/A|SMARCA4|PAZAR . . . . . 0.0003 Name\x3d99.186835 2 +3 32188248 GPD1L GA G 4 0.101637 0.0161 . . . . . . . 0.0181 . intronic . 0.0011643 . . Name\x3dOREG1862151|N/A|SPI1|PAZAR,OREG1769698|N/A|MITF|PAZAR,OREG1243677|N/A|SMARCA4|PAZAR . . . . . 0.0194 Name\x3d99.139296 0 +3 32200322 GPD1L T C 46 0.479433 0.3227 . . . . . . . 0.3365 . intronic . 0.350979 . . . . . . . . 0.3065 . -1 +3 32200588 GPD1L C T 2 0.000399361 0.0001 0.097 Human_Phenotype_Ontology:HP:0001522,MedGen:C1858430|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 . 9.06e-05 T . . . B T . . 0.0001 Name\x3d99.521506 12.5 +3 32201104 GPD1L C T 1 0.000199681 . . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN230736 Brugada_syndrome|Cardiovascular_phenotype Likely_benign . . . 0.0001 synonymous_SNV exonic . 7.76e-05 . . . . . . . . . Name\x3d99.352555 1 +3 32201123 GPD1L G T 1 0.000199681 . 2.083 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d98.912936 4.5 +3 38591847 SCN5A G C 1 0.000399361 0.0017 -2.385 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C4551804,OMIM:601144|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|Brugada_syndrome_1|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0011384 T . Name\x3dOREG1506234|N/A|EGR1|PAZAR . B T . . 0.0016 Name\x3d99.870231 13.5 +3 38591888 SCN5A C G 1 0.000199681 . -3.096 . . . . . . 1.938e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1506234|N/A|EGR1|PAZAR . B T . . . Name\x3d99.856033 7.5 +3 38592406 SCN5A A G 76 0.492412 0.3233 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Sick_sinus_syndrome|Long_QT_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 . . . 0.3357 synonymous_SNV exonic rs1805126|Electrocardiographic-conduction-measures|0.6568|3E-20|PMID:23463857 0.379568 . . . . . . . . 0.3336 Name\x3d99.926716 0 +3 38592799 SCN5A G A 1 0.000199681 . . MedGen:CN169374 not_specified Benign/Likely_benign . . . 7.36e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . . Name\x3d99.945261 5 +3 38597180 SCN5A G A 1 0.00119808 0.0058 . 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 . . . 0.0042 synonymous_SNV exonic . 0.0030207 . . . . . . . . 0.0045 Name\x3d99.910864 1 +3 38597867 SCN5A C T 30 0.0854633 0.0874 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign . . . . . intronic . 0.0919394 . . . . . . . . . Name\x3d98.090329 -2 +3 38598669 SCN5A A G 12 0.127995 0.0582 . . . . . . . . . intronic . 0.0150063 . . . . . . . . 0.0597 Name\x3d95.485776 1 +3 38601665 SCN5A C T 2 0.00359425 0.0121 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0130 synonymous_SNV exonic . 0.0084734 . . . . . . . . 0.0138 Name\x3d99.942324 -1 +3 38601722 SCN5A C G 1 0.000199681 . 1.309 . . . . . . 1.869e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . B T . . . Name\x3d99.927219 5 +3 38603958 SCN5A G A 1 0.000199681 0.0001 5.635 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1859062,OMIM:603830|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Congenital_long_QT_syndrome|Brugada_syndrome|Long_QT_syndrome_3|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0002 nonsynonymous_SNV exonic . 0.000194 D Name\x3dOREG0070925|N/A|N/A|VistaEnhancers . . D D . . 0.0005 Name\x3d99.852384 14 +3 38618080 SCN5A A G 11 0.0345447 0.0624 . . . . . . . . . intronic . 0.0090232 . . . . . . . . . . 0 +3 38618142 SCN5A G A 1 0.00199681 0.0094 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202 Cardiomyopathy|Brugada_syndrome|not_specified|not_provided Benign . . . 0.0100 . intronic . 0.0054915 . . . . . . . . 0.0064 Name\x3d98.883231 -1 +3 38618342 SCN5A G A 1 0.000798722 0.0004 . . . . . . . . . intronic . 0.0005379 . . . . . . . . . Name\x3d96.382076 3 +3 38622467 SCN5A T C 193 0.923123 0.8984 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Sick_sinus_syndrome|Long_QT_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 . . . 0.8887 synonymous_SNV exonic . 0.898106 . . . . . . . . 0.8830 Name\x3d99.925456 -1 +3 38622745 SCN5A C A 2 0.000399361 . 6.503 . . . . . . 4.181e-05 nonsynonymous_SNV exonic . 2.59e-05 D . . . D D . . . Name\x3d99.942508 11 +3 38622868 SCN5A G A 8 0.0323482 0.0369 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN239310 Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0448 . intronic . 0.0328133 . . . . . . 0.0001 0.002 0.0430 Name\x3d99.755610 -1 +3 38627153 SCN5A G GGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT 8 0.359824 . . . . . . . . . . intronic . 0.0002264 . . . . . . . . . Name\x3d95.567744 1 +3 38627537 SCN5A G T 1 0.000399361 0.0010 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0005 . intronic . 0.0003816 . . . . . . 0.0005 0.018 0.0007 Name\x3d99.883128 7 +3 38628851 SCN5A A AC 2 0.00139776 0.0042 . . . . . . . 0.0039 . intronic . 0.0001423 . . . . . . . . 0.0042 Name\x3d98.598871 3 +3 38628879 SCN5A C T 5 0.00239617 0.0035 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN239310 Cardiomyopathy|Sick_sinus_syndrome|Long_QT_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0047 . intronic . 0.0029948 . . . . . . . . 0.0031 Name\x3d99.719204 15 +3 38640536 SCN5A C T 1 0.000199681 . . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Likely_benign . . . 3.949e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.937040 3 +3 38645420 SCN5A T C 50 0.230431 0.2462 -1.102 . . . . . . 0.2219 nonsynonymous_SNV exonic . 0.219577 T . . . B T . . 0.2321 Name\x3d99.875248 2.5 +3 38645506 SCN5A A G 2 0.00199681 0.0058 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0088 synonymous_SNV exonic . 0.0054268 . . . . . . . . 0.0081 Name\x3d99.911414 -1 +3 38645516 SCN5A C T 1 0.000399361 6.487e-05 2.390 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202 Brugada_syndrome|not_specified|not_provided Uncertain_significance . . . 5.131e-05 nonsynonymous_SNV exonic . 5.82e-05 T . . . B T . . 0.0001 Name\x3d99.902378 6.5 +3 38646423 SCN5A C T 42 0.17512 0.2161 . MedGen:CN169374 not_specified Benign . . . 0.2262 . intronic . 0.170586 . . . . . . . . 0.1935 Name\x3d96.472926 1 +3 38647642 SCN5A G T 42 0.151158 0.2081 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Sick_sinus_syndrome|Long_QT_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 . . . 0.1811 . intronic . 0.169442 . . . . . . 0.9992 0.79 0.1850 Name\x3d99.803424 0 +3 38649621 SCN5A G A 1 0.000199681 . . . . . . . . 1.841e-05 . intronic . 5.82e-05 . . . . . . . . . Name\x3d97.063805 5 +3 38651442 SCN5A G A 2 0.00139776 0.0044 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0054 synonymous_SNV exonic . 0.0039715 . . . . . . . . 0.0067 Name\x3d99.944546 1 +3 38655354 SCN5A C A 1 0.000199681 . . . . . . . . 4.445e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.915269 5 +3 38655358 SCN5A G A 1 0.000199681 0.0002 . . . . . . . 0.0005 . intronic . 0.0001488 . . . . . . . . 0.0006 Name\x3d99.915269 3 +3 38655643 SCN5A C T 43 0.223043 0.1569 . . . . . . . . . intronic . 0.187606 . . . . . . . . . Name\x3d97.193966 1 +3 38662276 SCN5A C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +3 38662310 SCN5A C T 1 0.000599042 . . . . . . . . . . intronic . 5.17e-05 . . . . . . . . . Name\x3d96.292862 3 +3 38671768 SCN5A G T 10 0.0465256 0.0316 . MedGen:CN169374 not_specified Benign . . . 0.0335 . intronic . 0.0350125 . . . . . . . . 0.0368 . 0 +3 38671840 SCN5A G A 1 0.00539137 0.0033 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0031 synonymous_SNV exonic . 0.0041267 . . . . . . . . 0.0029 Name\x3d99.885377 -1 +3 38671944 SCN5A G A 2 0.0644968 0.0185 . MedGen:CN169374 not_specified Benign . . . 0.0180 . intronic . 0.0311833 . . . . . . . . 0.0175 Name\x3d99.466462 1 +3 38674475 SCN5A C T 11 0.0385383 0.0351 . . . . . . . . . intronic . 0.0076454 . . Name\x3dOREG1506233|N/A|EGR1|PAZAR . . . . . 0.0377 Name\x3d97.510145 2 +3 38674652 SCN5A C T 2 0.000399361 . . . . . . . . 3.786e-05 synonymous_SNV exonic . 2.59e-05 . . Name\x3dOREG1506233|N/A|EGR1|PAZAR . . . . . . Name\x3d99.922518 6 +3 38674712 SCN5A T C 178 0.781749 0.7795 . Human_Phenotype_Ontology:HP:0011704,MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230454,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Sick_sinus_syndrome|Long_QT_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 . . . 0.7891 synonymous_SNV exonic . 0.763852 . . Name\x3dOREG1506233|N/A|EGR1|PAZAR . . . . . 0.8072 Name\x3d99.922640 0 +3 38739353 SCN10A G A 1 0.000399361 0.0005 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign . . . 0.0006 synonymous_SNV exonic . 0.0004075 . . . . . . . . 0.0003 Name\x3d99.634544 -1 +3 38739455 SCN10A G A 1 0.000199681 0.0001 . . . . . . . 5.52e-05 synonymous_SNV exonic . 4.53e-05 . . . . . . . . 0.0002 Name\x3d99.788227 3 +3 38739494 SCN10A G A 5 0.014377 0.0333 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.0298 synonymous_SNV exonic . 0.0256077 . . . . . . . . 0.0308 Name\x3d99.780425 -5 +3 38739574 SCN10A T C 214 1 1 0.227 MedGen:CN169374 not_specified Benign . . . 1 nonsynonymous_SNV exonic . 0.938267 T . . . B T . . . Name\x3d99.865245 0.5 +3 38739622 SCN10A C T 4 0.00638978 0.0136 0.274 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.0145 nonsynonymous_SNV exonic . 0.0119468 T . . . B T . . 0.0137 Name\x3d99.729685 -3.5 +3 38739845 SCN10A A G 201 0.92472 0.9126 . MedGen:CN169374 not_specified Benign . . . 0.9179 synonymous_SNV exonic . 0.910105 . . . . . . . . 0.9151 Name\x3d99.900556 -1 +3 38740001 SCN10A C T 4 0.0579073 0.0141 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.0148 synonymous_SNV exonic . 0.0356852 . . . . . . . . 0.0142 Name\x3d99.325116 -5 +3 38743314 SCN10A G A 1 0.00519169 0.0003 . MedGen:CN169374 not_specified Benign . . . 0.0005 . intronic . 0.0013907 . . . . . . . . 0.0006 . 0 +3 38743571 SCN10A G A 1 0.000199681 0.0042 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign/Likely_benign . . . 0.0014 synonymous_SNV exonic . 0.0010543 . . . . . . . . 0.0009 Name\x3d99.483915 -1 +3 38743629 SCN10A G A 4 0.00359425 0.0066 . . . . . . . 0.0079 . intronic . 0.0054268 . . . . . . . . 0.0064 . 4 +3 38748833 SCN10A T C 39 0.242412 0.1390 . MedGen:CN169374 not_specified Benign . . . 0.1379 synonymous_SNV exonic . 0.174959 . . . . . . . . 0.1430 Name\x3d99.480955 -1 +3 38748883 SCN10A A G 1 0.000199681 . . . . . . . . 3.684e-05 . intronic . 2.59e-05 . . . . . . . . . Name\x3d97.405637 3 +3 38752386 SCN10A T G 1 0.000199681 . . . . . . . . 2.034e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.769075 3 +3 38753977 SCN10A C T 60 0.251997 0.2678 . . . . . . . 0.2707 . intronic . 0.24609 . . . . . . . . 0.2617 . -2 +3 38755505 SCN10A G A 1 0.000199681 . 11.990 . . . . . . 3.682e-05 stopgain exonic . 3.23e-05 . . . . . . . . . Name\x3d99.338287 11 +3 38755637 SCN10A A G 1 0.0740815 0.0132 . . . . . . . . . intronic . 0.005595 . . . . . . . . . . -2 +3 38763863 SCN10A G C 61 0.219649 0.2670 . MedGen:CN169374 not_specified Benign . . . 0.2679 synonymous_SNV exonic . 0.239654 . . . . . . . . 0.2602 Name\x3d98.433880 -1 +3 38764998 SCN10A A G 61 0.219649 0.2672 0.961 MedGen:CN169374 not_specified Benign . . . 0.3097 nonsynonymous_SNV exonic . 0.237862 T . . . B T . . 0.26 Name\x3d99.271556 0.5 +3 38765075 SCN10A C T 1 0.000599042 . . . . . . . . 0.0004 . intronic . 0.0001876 . . . . . . . . 0.0001 Name\x3d95.395093 1 +3 38766675 SCN10A A G 130 0.757987 0.6172 -0.943 MedGen:CN169374 not_specified Benign . . . 0.6060 nonsynonymous_SNV exonic rs6795970|Electrocardiographic-traits|14.81|1E-58|PMID:20062063 0.648258 T . Name\x3dOREG1250038|N/A|SMARCA4|PAZAR . B T . . 0.6019 Name\x3d98.896503 2.5 +3 38766701 SCN10A C T 17 0.115415 0.1503 . MedGen:CN169374 not_specified Benign . . . 0.1400 synonymous_SNV exonic . 0.126564 . . Name\x3dOREG1250038|N/A|SMARCA4|PAZAR . . . . . 0.1414 Name\x3d99.136024 0 +3 38766825 SCN10A A G 13 0.0844649 0.0479 . MedGen:CN169374 not_specified Benign . . . 0.0508 . intronic . 0.0616163 . . Name\x3dOREG1250038|N/A|SMARCA4|PAZAR . . . . . 0.0492 . -1 +3 38768212 SCN10A G A 1 0.000599042 0.0013 4.779 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign . . . 0.0013 nonsynonymous_SNV exonic . 0.0009832 T . . . D D . . 0.0014 Name\x3d99.060883 2 +3 38768247 SCN10A G A 70 0.190495 0.2663 . MedGen:CN169374 not_specified Benign . . . 0.2677 synonymous_SNV exonic . 0.231646 . . . . . . . . 0.2614 Name\x3d99.200632 -1 +3 38768300 SCN10A T C 70 0.210663 0.2664 -1.544 MedGen:CN169374 not_specified Benign . . . 0.2684 nonsynonymous_SNV exonic . 0.235411 T . . . B T . . 0.2620 Name\x3d98.896335 0.5 +3 38768334 SCN10A T C 17 0.135982 0.0621 . MedGen:CN169374 not_specified Benign . . . 0.0638 synonymous_SNV exonic . 0.0912989 . . . . . . . . 0.0648 Name\x3d99.434816 -1 +3 38768427 SCN10A G T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.345942 3 +3 38768609 SCN10A G A 1 0.000199681 6.48e-05 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 2 +3 38769983 SCN10A C T 1 0.000199681 . . . . . . . . 3.873e-05 . intronic . 1.94e-05 . . . . . . . . . . 2 +3 38770391 SCN10A A G 1 0.000199681 . 5.824 . . . . . . 3.751e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D D 0.1749 0.444 . Name\x3d99.575404 9 +3 38780971 SCN10A G A 42 0.1873 0.2643 . . . . . . . 0.2540 . intronic . 0.0013519 . . . . . . . . 0.2509 . -2 +3 38784010 SCN10A C A 1 0.000199681 . 2.858 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B D . . . Name\x3d99.500608 6 +3 38784029 SCN10A T C 131 0.757788 0.6099 . MedGen:CN169374 not_specified Benign . . . 0.5996 . intronic rs6599250|PR-interval|3.8|4E-242|PMID:30046033 0.642851 . . . . . . 0.0001 0.01 0.5951 Name\x3d98.443089 -1 +3 38784056 SCN10A A C 5 0.137979 0.0290 . . . . . . . 0.0294 . intronic . 0.0722759 . . . . . . . . 0.0297 Name\x3d96.946063 -1 +3 38791482 SCN10A C T 5 0.137979 0.0279 . . . . . . . . . intronic . 0.0126518 . . . . . . . . . . -2 +3 38791507 SCN10A C T 13 0.0880591 0.0476 . . . . . . . . . intronic . 0.0089779 . . . . . . . . . Name\x3d96.617260 -1 +3 38793940 SCN10A A G 5 0.139976 0.0280 -0.356 MedGen:CN169374 not_specified Benign . . . 0.0283 nonsynonymous_SNV exonic . 0.0723859 T . . . B T . . 0.0280 Name\x3d99.103293 0.5 +3 38793989 SCN10A G A 70 0.207668 0.2587 . MedGen:CN169374 not_specified Benign . . . 0.2635 synonymous_SNV exonic . 0.229538 . . . . . . . . 0.2523 Name\x3d99.526908 -1 +3 38798171 SCN10A C T 70 0.207468 0.2570 . MedGen:CN169374 not_specified Benign . . . 0.2579 synonymous_SNV exonic . 0.227681 . . . . . . . . 0.2509 Name\x3d99.455034 -1 +3 38802155 SCN10A A G 1 0.00139776 0.0027 . MedGen:CN169374 not_specified Likely_benign . . . 0.0031 . intronic . 0.0021539 . . . . . . . . 0.0031 . 0 +3 38802251 SCN10A A G 77 0.388778 0.2872 . MedGen:CN169374 not_specified Benign . . . 0.2881 . intronic . 0.321044 . . . . . . . . 0.2826 . -2 +3 38802620 SCN10A TGTCCCTATATGATACCAAGGGTCCAACCAGACCTTG T 3 0.0091853 0.0236 . . . . . . . . . intronic . 0.0005886 . . . . . . . . . . -2 +3 38804951 SCN10A G A 2 0.00159744 0.0040 . . . . . . . 0.0045 . intronic . 0.0031436 . . . . . . . . 0.0064 . 0 +3 38805069 SCN10A T C 4 0.0419329 0.0149 1.807 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.0155 nonsynonymous_SNV exonic . 0.0243852 T . . . B D . . 0.0159 Name\x3d99.229262 -5 +3 38805130 SCN10A C G 7 0.11901 0.0481 . . . . . . . 0.0464 . intronic . 0.0664222 . . . . . . . . 0.0463 . -2 +3 38805157 SCN10A G A 6 0.00279553 0.0106 . . . . . . . . . intronic . 0.0017011 . . Name\x3dOREG1281719|N/A|CEBPA|PAZAR . . . . . . . -1 +3 38812708 SCN10A C T 77 0.416334 0.3809 . . . . . . . . . intronic . 0.0821852 . . . . . . . . . . -2 +3 38835173 SCN10A T A 2 0.00379393 0.0098 . . . . . . . . . intronic . 0.0018111 . . . . . . . . . . 0 +3 38835457 SCN10A G A 4 0.00299521 0.0105 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.0070 synonymous_SNV exonic . 0.0056338 . . . . . . . . 0.0107 Name\x3d99.461943 -5 +3 38835461 SCN10A C A 2 0.00119808 0.0030 5.749 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C3809893,OMIM:615551|MedGen:CN169374 Brugada_syndrome|Episodic_pain_syndrome,_familial,_2|not_specified Likely_benign . . . 0.0033 nonsynonymous_SNV exonic . 0.0019146 D . . . D D . . 0.0030 Name\x3d99.225351 5 +3 38835509 SCN10A T A 1 0.000599042 0.0034 . MedGen:CN169374 not_specified Likely_benign . . . 0.0013 . upstream . 0.0008279 . . . . . . . . 0.0013 Name\x3d99.753586 1 +3 46899725 MYL3 G A 1 0.000199681 0.0002 . MedGen:CN169374 not_specified Benign . . . 0.0001 . UTR3 . 6.47e-05 . . . . . . . . 0.0002 Name\x3d98.939816 3 +3 46900051 MYL3 G A 11 0.147165 0.0780 . . . . . . . . . intronic . 0.0189325 . . . . . . . . . Name\x3d96.867032 0 +3 46902129 MYL3 T G 26 0.462859 0.1193 . MedGen:CN169374 not_specified Benign . . . 0.1266 . intronic . 0.247416 . . . . . . . . 0.1248 Name\x3d97.525554 -1 +3 46902491 MYL3 C A 2 0.000998403 0.0021 . MedGen:C1837471,OMIM:608751|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_8|not_specified Benign/Likely_benign . . . 0.0019 . intronic . 0.0015782 . . . . . . . . 0.0037 Name\x3d99.302261 -1 +3 46902578 MYL3 C T 1 0.000399361 0.0003 . . . . . . . . . intronic . 0.000461 . . . . . . . . . Name\x3d97.766111 1 +3 46904708 MYL3 C A 26 0.39397 0.1182 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000684896|Promoter . . 0.1250 . intronic . 0.209887 . . . . . . . . 0.1230 Name\x3d97.934619 1 +3 46904812 MYL3 G A 3 0.0371406 0.0075 . 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 Name\x3dENSR00000684896|Promoter . . 0.0068 synonymous_SNV exonic . 0.0175095 . . . . . . . . 0.0074 Name\x3d99.539383 -4 +3 52485889 TNNC1 C T 1 0.000199681 . . . . . Name\x3dENSR00000152555|Promoter . . . . intronic . 6.5e-06 . . Name\x3dOREG1707415|N/A|HNF4A|PAZAR,OREG1732360|N/A|HNF4A|PAZAR . . . . . . Name\x3d98.807697 7 +3 57743337 SLMAP C G 51 0.192492 0.1865 . . . . Name\x3dENSR00000153102|Promoter . . 0.1976 . UTR5 . 0.196828 . . Name\x3dOREG1256099|N/A|SMARCA4|PAZAR . . . . . 0.1936 Name\x3d97.513890 2 +3 57835630 SLMAP G A 1 0.000399361 6.479e-05 . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 2 +3 57843561 SLMAP C T 1 0.000599042 0.0001 . . . . . . . 0.0002 . intronic . 0.0001617 . . . . . . . 0.002 . . 0 +3 57846577 SLMAP C A 55 0.228634 0.1997 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.2348 . intronic . 0.0131305 . . . . . . . . 0.1615 . -6 +3 57846627 SLMAP A G 1 0.000798722 0.0012 . . . . . . . . . intronic . 0.0006531 . . . . . . . . . . 0 +3 57847871 SLMAP A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +3 57857439 SLMAP A G 8 0.0147764 0.0459 . MedGen:CN169374 not_specified Benign . . . 0.0494 . intronic . 0.0342298 . . . . . . . . 0.0506 Name\x3d96.848298 -1 +3 57882601 SLMAP C T 60 0.299521 0.2522 . MedGen:CN169374 not_specified Benign . . . 0.2697 synonymous_SNV exonic . 0.279466 . . . . . . . . 0.2420 . -2 +3 57893558 SLMAP A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +3 57898376 SLMAP T A 7 0.0071885 0.0249 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign . . . 0.0288 synonymous_SNV exonic . 0.0167268 . . . . . . . . 0.0320 Name\x3d96.563219 -5 +3 57898433 SLMAP A G 1 0.000399361 0.0002 . . . . . . . 0.0003 . intronic . 0.0002652 . . . . . . 0.0001 0.022 0.0005 . 0 +3 57902639 SLMAP G A 9 0.0133786 0.0330 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign . . . 0.0323 synonymous_SNV exonic . 0.0233244 . . . . . . . . 0.0322 Name\x3d96.012318 -5 +3 57908594 SLMAP CT C 51 0.1875 0.1819 . . . . . . . 0.2006 . intronic . 0.0059184 . . . . . . . . 0.1907 Name\x3d96.026722 -1 +3 57912985 SLMAP G A 1 0.000399361 0.0001 . . . . . . . 0.0005 . intronic . 0.0001294 . . . . . . . . 0.0001 Name\x3d96.078911 1 +3 57913141 SLMAP T A 1 0.000199681 . . . . . . . . . . UTR3 . 1.29e-05 . . . . . . . . . Name\x3d97.171516 3 +3 180702494 DNAJC19 T G 1 0.00199681 0.0100 . MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374|MedGen:CN517202 3-methylglutaconic_aciduria_type_V|not_specified|not_provided Benign . . . 0.0079 synonymous_SNV exonic . 0.0043272 . . . . . . . . 0.0043 Name\x3d99.549875 1 +3 180703653 DNAJC19 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d95.812597 3 +3 180703663 DNAJC19 A C 1 0.00199681 0.0024 . . . . . . . 0.0050 . intronic . 0.0032341 . . . . . . . . 0.0062 . 0 +3 180703743 DNAJC19 C T 1 0.000199681 . 4.150 . . . . . . 3.685e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d99.332081 4.5 +3 180705871 DNAJC19 C T 3 0.00279553 0.0027 . MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374|MedGen:CN517202 3-methylglutaconic_aciduria_type_V|not_specified|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000162646|Promoter . . 0.0043 synonymous_SNV exonic . 0.0041591 . . . . . . . . 0.0044 Name\x3d99.637186 6 +3 180705940 DNAJC19 C T 1 0.000199681 . . . . . Name\x3dENSR00000162646|Promoter . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d99.453258 4 +3 180706141 DNAJC19 CT C 61 0.289936 0.0382 . . . . Name\x3dENSR00000162646|Promoter . . . . intronic . 0.0010373 . . . . . . . . . . -1 +3 196771513 DLG1 G A 7 0.0251597 0.0561 4.635 . . . . . . 0.0537 nonsynonymous_SNV exonic . 0.0422634 T . . . D D . . 0.0471 . 3 +3 196771521 DLG1 G A 1 0.000199681 0.0003 . . . . . . . 9.214e-05 synonymous_SNV exonic . 0.0001876 . . . . . . . . . . 4 +3 196771554 DLG1 T C 7 0.0253594 0.0561 . . . . . . . 0.0538 synonymous_SNV exonic . 0.0422634 . . . . . . . . 0.0470 . 0 +3 196778421 DLG1 A C 3 0.0115815 0.0022 . . . . . . . 0.0045 . intronic . 0.0074385 . . . . . . . . 0.0031 . 0 +3 196778438 DLG1 C T 57 0.264577 0.2587 . . . . . . . 0.2668 . intronic . 0.258121 . . . . . . . . 0.28 . 0 +3 196786804 DLG1 G A 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d95.639192 5 +3 196792163 DLG1 C T 1 0.00419329 0.0240 7.123 . . . . . . 0.0248 nonsynonymous_SNV exonic . 0.0165781 T . Name\x3dOREG1262715|N/A|SMARCA4|PAZAR . P T . . 0.0245 . 1 +3 196793475 DLG1 A T 7 0.0289537 0.0584 . . . . . . . . . intronic . 3.84e-05 . . Name\x3dOREG1262715|N/A|SMARCA4|PAZAR . . . . . . . 1 +3 196795292 DLG1 TAATC T 1 0.00299521 0.0059 . . . . . . . . . intronic . 0.00073 . . . . . . . . . . 2 +3 196795342 DLG1 A C 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +3 196795442 DLG1 T C 1 0.00119808 0.0017 . . . . . . . 0.0019 . intronic . 0.000912 . . . . . . . . 0.0020 . 2 +3 196795990 DLG1 T C 2 0.000399361 6.488e-05 . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 4 +3 196796231 DLG1 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +3 196796248 DLG1 TTTTC T 15 0.0369409 0.0447 . . . . . . . . . intronic . 0.0051099 . . . . . . . . . . 0 +3 196802740 DLG1 T C 1 0.000199681 . 2.048 . . . . . . 1.843e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T 0.0137 0.028 . Name\x3d97.734434 6.5 +3 196803647 DLG1 T C 63 0.252596 0.2817 . . . . . . . . . intronic . 0.0520368 . . . . . . . . . Name\x3d97.057768 1 +3 196807928 DLG1 A C 4 0.00559105 0.0100 1.923 . . . . . . 0.0108 nonsynonymous_SNV exonic . 0.0076713 T . . . B T . . 0.0134 Name\x3d96.870038 2.5 +3 196808026 DLG1 A C 1 0.000199681 0.0003 . . . . . . . 0.0003 . intronic . 0.0001617 . . . . . . . . . . 4 +3 196817735 DLG1 A T 7 0.029353 0.0583 . . . . . . . 0.0562 . intronic . 0.0447019 . . Name\x3dOREG1262717|N/A|SMARCA4|PAZAR . . . . . 0.0502 . 1 +3 196831946 DLG1 C T 3 0.00738818 0.0185 . . . . . . . . . intronic . 0.0024256 . . . . . . . . . . 0 +3 196846378 DLG1 G A 1 0.000199681 . 2.660 . . . . . . 3.701e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d95.539963 6.5 +3 196846437 DLG1 C T 34 0.0794728 0.1737 . . . . . . . 0.2002 . intronic . 0.129972 . . . . . . . . 0.1755 . 0 +3 196865242 DLG1 C T 38 0.127995 0.1376 4.417 . . . . . . 0.1488 nonsynonymous_SNV exonic . 0.149519 T . . . P T . . 0.1473 . 1.5 +3 196865301 DLG1 A G 7 0.0255591 0.0557 . . . . . . . 0.1794 . intronic . 0.028803 . . . . . . . . . . 0 +3 196869518 DLG1 T C 57 0.257188 0.2615 . . . . . . . . . intronic . 0.051707 . . . . . . . . 0.2719 . 0 +3 196869688 DLG1 A G 214 0.993211 1 . . . . . . . 1 . intronic . 0.944309 . . . . . . . . 0.9999 . 0 +3 196876600 DLG1 G A 34 0.0766773 0.1735 . . . . . . . 0.1795 . intronic rs73210523|Educational-attainment-(years-of-education)|0.0122|6E-11|PMID:30038396 0.135134 . . . . . . . . 0.1783 . 0 +3 196876717 DLG1 G A 1 0.00139776 0.0027 . . . . . . . 0.0023 . intronic . 0.0019081 . . . . . . . . 0.0031 . 2 +3 196876775 DLG1 T TTA 34 0.105032 0.1734 . . . . . . . . . intronic . 0.0237437 . . . . . . . . . . 0 +3 196921360 DLG1 T C 13 0.0145767 0.0504 2.040 . . . . . . 0.0464 nonsynonymous_SNV exonic . 0.0323476 T . . . B T . . 0.0443 . 1.5 +3 196921477 DLG1 C T 2 0.000998403 0.0003 . . . . . . . 0.0007 . intronic . 0.0008797 . . . . . . . . 0.0009 . 2 +3 197009609 DLG1 G A 1 0.000199681 . 4.090 . . . . . Name\x3dMIMAT0004588|hsa-miR-27b-5p|Experimental,MIMAT0000419|hsa-miR-27b-3p|Experimental,MIMAT0000232|hsa-miR-199a-3p|Experimental,MIMAT0000424|hsa-miR-128-3p|Experimental,MIMAT0004563|hsa-miR-199b-3p|Experimental 0.0001 nonsynonymous_SNV exonic . 7.12e-05 T . . . P T . . 0.0002 Name\x3d95.999583 7.5 +4 113825680 ANK2 G T 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d99.543641 5 +4 113971067 ANK2 A G 1 0.000399361 0.0013 . . . . Name\x3dENSR00000172116|Promoter . . . . intronic . 0.000194 . . . . . . . . . Name\x3d99.677334 4 +4 114117472 ANK2 C T 31 0.179113 0.1482 . . . . . . . . . intronic . 0.0300449 . . . . . . . . . Name\x3d97.032597 1 +4 114117474 ANK2 A AT 31 0.179113 0.1484 . . . . . . . 0.1522 . intronic . 0.0047735 . . . . . . . . 0.1442 Name\x3d97.032597 1 +4 114120284 ANK2 C T 3 0.0253594 0.0401 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign . . . 0.0333 . intronic . 0.029508 . . . . . . . . 0.0293 Name\x3d97.945297 -3 +4 114158111 ANK2 T C 1 0.000399361 0.0005 . . . . . . . 0.0006 . intronic . 0.0003752 . . . . . . . . 0.0005 . 2 +4 114158395 ANK2 TA T 3 0.0107827 0.0376 . . . . . . . . . intronic . 0.0038036 . . . . . . . . . Name\x3d99.301541 1 +4 114161619 ANK2 T C 2 0.00279553 0.0121 . . . . . . . 0.0107 . intronic . 0.007626 . . . . . . . . 0.0116 Name\x3d96.413888 1 +4 114171076 ANK2 A G 5 0.0549121 0.0492 . . . . . . . . . intronic . 0.0083763 . . . . . . . . . . 0 +4 114176848 ANK2 GA G 1 0.00159744 0.0393 . . . . . . . 0.2083 . intronic . 0.0008797 . . . . . . . . 0.1409 Name\x3d97.879617 1 +4 114176850 ANK2 A G 1 0.00159744 . . . . . . . . . . intronic . 0.0001035 . . . . . . . . . Name\x3d97.879617 3 +4 114179348 ANK2 C T 1 0.000399361 0.0006 . . . . . . . 0.0007 . intronic . 0.0003816 . . . . . . . . 0.0003 Name\x3d99.633578 3 +4 114186005 ANK2 C T 3 0.0291534 0.0412 . . . . . . . 0.0244 . intronic . 0.0125483 . . . . . . . . 0.0318 Name\x3d97.147601 1 +4 114186067 ANK2 A G 1 0.00159744 0.0028 . 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 . . . 0.0095 synonymous_SNV exonic . 0.0017464 . . . . . . . . 0.0040 Name\x3d99.833615 11 +4 114209691 ANK2 C T 28 0.0790735 0.1067 . . . . . . . 0.1182 . intronic . 0.101059 . . . . . . . . 0.1069 Name\x3d97.756851 1 +4 114209732 ANK2 T C 32 0.177716 0.1139 . . . . . . . . . intronic rs29356|Diastolic-blood-pressure|1.91|1E-6|PMID:31469255 0.137659 . . . . . . . . . Name\x3d96.949094 2 +4 114213551 ANK2 C T 4 0.00359425 0.0115 . . . . Name\x3dENSR00000733744|Promoter . . 0.0194 . intronic . 0.0105497 . . Name\x3dOREG1790870|N/A|RBL2|PAZAR . . . . . 0.0094 Name\x3d99.581974 3 +4 114213561 ANK2 G A 1 0.00119808 0.0082 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related Benign/Likely_benign Name\x3dENSR00000733744|Promoter . . 0.0099 . intronic . 0.0046312 . . Name\x3dOREG1790870|N/A|RBL2|PAZAR . . . 0.0003 0.056 0.0071 Name\x3d99.753507 3 +4 114213631 ANK2 C T 5 0.0215655 0.0456 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign Name\x3dENSR00000733744|Promoter . . 0.0442 synonymous_SNV exonic . 0.0284343 . . Name\x3dOREG1790870|N/A|RBL2|PAZAR . . . . . 0.0366 Name\x3d99.911971 1 +4 114213705 ANK2 C T 9 0.00499201 0.0102 . . . . Name\x3dENSR00000733744|Promoter . . 0.0154 . intronic . 0.0064876 . . Name\x3dOREG1790870|N/A|RBL2|PAZAR . . . . . 0.0122 Name\x3d99.340453 3 +4 114214524 ANK2 G T 2 0.00479233 6.483e-05 . . . . Name\x3dENSR00000733744|Promoter . . . . intronic . 0.0002781 . . Name\x3dOREG1795619|N/A|RBL2|PAZAR . . . . . . Name\x3d99.835521 5 +4 114214588 ANK2 C T 1 0.00419329 0.0080 . 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 Name\x3dENSR00000733744|Promoter . . 0.0097 . intronic . 0.0018176 . . Name\x3dOREG1795619|N/A|RBL2|PAZAR,OREG1777184|N/A|RBL2|PAZAR . . . 0.0001 0.014 0.0110 Name\x3d99.716817 1 +4 114254240 ANK2 G T 1 0.000599042 0.0003 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0014 synonymous_SNV exonic . 0.0009638 . . . . . . . . 0.0009 Name\x3d99.846688 1 +4 114254322 ANK2 A G 2 0.000399361 . 2.396 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D T . . . Name\x3d99.706599 8 +4 114257201 ANK2 C T 19 0.260383 0.1040 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0981 synonymous_SNV exonic . 0.142657 . . . . . . . . 0.1038 Name\x3d99.755460 -1 +4 114257694 ANK2 A G 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +4 114260492 ANK2 G T 19 0.228634 0.1050 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374 Long_QT_syndrome|not_specified Benign/Likely_benign Name\x3dENSR00001086178|Enhancer . . 0.0986 . intronic . 0.134468 . . . . . . . . 0.1044 Name\x3d96.343325 2 +4 114260538 ANK2 C T 19 0.230032 0.1047 . . . . Name\x3dENSR00001086178|Enhancer . . . . intronic . 0.0262804 . . . . . . . . . . 1 +4 114263101 ANK2 T G 34 0.0479233 0.1237 . . . . . . . 0.1348 . intronic . 0.0940673 . . . . . . . . 0.1369 Name\x3d97.613844 1 +4 114267023 ANK2 G A 214 0.9998 0.9995 . . . . . . . 0.9997 . intronic . 0.973843 . . . . . . . . 0.9997 Name\x3d97.556547 1 +4 114269499 ANK2 T G 19 0.0894569 . . . . . . . . 0.0004 . intronic . 0.0028978 . . . . . . . . . Name\x3d99.524547 1 +4 114269509 ANK2 G A 3 0.0960463 0.0182 . . . . . . . 0.0186 . intronic . 0.0393721 . . . . . . . . 0.0213 Name\x3d99.607284 1 +4 114269552 ANK2 G A 38 0.284744 0.1606 . . . . . . . . . intronic . 0.0361056 . . . . . . . . . Name\x3d96.655079 1 +4 114275177 ANK2 C G 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.640615 5 +4 114275243 ANK2 C T 24 0.0389377 0.1211 . 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 . . . 0.1145 synonymous_SNV exonic . 0.0808916 . . . . . . . . 0.1119 Name\x3d99.736381 -3 +4 114275541 ANK2 G A 57 0.26258 . 4.891 . . . . . . 0.0017 nonsynonymous_SNV exonic . 0.0085057 T . . . P D . . . Name\x3d99.921132 1 +4 114275942 ANK2 C G 5 0.11881 0.0209 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0233 synonymous_SNV exonic . 0.0476902 . . . . . . . . 0.0244 Name\x3d99.647808 -1 +4 114275950 ANK2 C T 1 0.000199681 0.0012 1.613 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0009 nonsynonymous_SNV exonic . 0.0006533 T . . . P D . . 0.0007 Name\x3d99.647808 11 +4 114275980 ANK2 G A 1 0.000998403 0.0010 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 . . . 0.0015 nonsynonymous_SNV exonic . 0.0009314 T . . . D D . . 0.0012 Name\x3d99.572303 2 +4 114276422 ANK2 C G 3 0.00139776 0.0029 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . Name\x3dMIMAT0002174|hsa-miR-484|Experimental 0.0036 synonymous_SNV exonic . 0.0023221 . . . . . . . . 0.0033 Name\x3d99.886637 12 +4 114276880 ANK2 T C 24 0.0920527 0.1245 -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 Name\x3dENSR00000733758|Promoter . . 0.1196 nonsynonymous_SNV exonic . 0.0970169 T . Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG1857110|N/A|RUNX1|PAZAR . B T . . 0.1163 Name\x3d99.181926 0.5 +4 114276884 ANK2 A G 38 0.284944 0.1611 . 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 Name\x3dENSR00000733758|Promoter . . 0.1604 synonymous_SNV exonic . 0.185787 . . Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG0677412|N/A|FOXH1|JASPAR,OREG1857110|N/A|RUNX1|PAZAR . . . . . 0.1620 Name\x3d99.472388 -1 +4 114276957 ANK2 A C 1 0.000199681 0.0003 0.715 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance Name\x3dENSR00000733758|Promoter . Name\x3dMIMAT0000423|hsa-miR-125b-5p|Experimental,MIMAT0000443|hsa-miR-125a-5p|Experimental 0.0002 nonsynonymous_SNV exonic . 0.000207 T . Name\x3dOREG1857110|N/A|RUNX1|PAZAR,OREG0432123|N/A|BATF::JUN|JASPAR,OREG1217977|N/A|SMARCA4|PAZAR,OREG1541715|N/A|ETS1|PAZAR . D D . . 0.0002 Name\x3d99.223977 11 +4 114276986 ANK2 A T 1 0.000199681 . 4.593 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 1.94e-05 T . Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG1857110|N/A|RUNX1|PAZAR,OREG1541715|N/A|ETS1|PAZAR . P D . . . Name\x3d99.745621 6 +4 114278277 ANK2 C T 14 0.187899 0.0371 0.373 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0409 nonsynonymous_SNV exonic . 0.0872628 T . . . B T . . 0.0457 Name\x3d99.526234 0.5 +4 114278684 ANK2 C T 1 0.000199681 . . . . . . . Name\x3dMIMAT0004926|hsa-miR-708-5p|Experimental 1.84e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.059120 6 +4 114278935 ANK2 C T 1 0.000199681 . 2.531 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D T . . . Name\x3d99.859512 8 +4 114279422 ANK2 A G 26 0.0920527 0.1240 . 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 . . . 0.1199 synonymous_SNV exonic . 0.0981941 . . . . . . . . 0.1158 Name\x3d99.272082 -3 +4 114279628 ANK2 T C 4 0.00399361 0.0126 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 . . . 0.0109 nonsynonymous_SNV exonic . 0.0080917 D . . . D D . . 0.0090 Name\x3d99.821681 0 +4 114279674 ANK2 C A 8 0.00998403 0.0296 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 . . . 0.0257 nonsynonymous_SNV exonic . 0.0193529 D . . . B D . . 0.0317 Name\x3d99.641676 0 +4 114280145 ANK2 G A 2 0.00199681 0.0024 . 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 . . . 0.0046 synonymous_SNV exonic . 0.0026972 . . . . . . . . 0.0031 Name\x3d99.683714 11 +4 114280169 ANK2 G A 1 0.000399361 0.0034 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0026 synonymous_SNV exonic . 0.0022315 . . . . . . . . 0.0043 Name\x3d99.818065 7 +4 114284645 ANK2 C T 24 0.0756789 0.1240 . MedGen:C1970119,OMIM:600919|MedGen:CN169374 Cardiac_arrhythmia,_ankyrin_B-related|not_specified Benign . . . 0.1191 . intronic . 0.0913895 . . . . . . . . 0.1156 . -4 +4 114286207 ANK2 T A 2 0.00199681 0.0024 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 . . . 0.0044 nonsynonymous_SNV exonic . 0.0026067 T . . . B T . . 0.0031 Name\x3d99.643542 0.5 +4 114286357 ANK2 ATG A 198 0.76877 0.7821 . MedGen:CN169374 not_specified Benign . . . 0.5255 . intronic . 0.0001035 . . . . . . . . . Name\x3d97.447315 1 +4 114289049 ANK2 A C 1 0.000199681 . . . . . . . . 1.87e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d97.691871 5 +4 114289062 ANK2 G A 4 0.0714856 0.0205 . . . . . . . . . intronic . 0.0079559 . . . . . . . . . Name\x3d96.000845 1 +4 114294308 ANK2 T C 38 0.313299 0.1614 . 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 . . . 0.1580 synonymous_SNV exonic . 0.194545 . . . . . . . . 0.1601 Name\x3d99.769104 -3 +4 114302634 ANK2 C T 6 0.0177716 0.0281 . 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 Name\x3dENSR00001086182|Enhancer . . 0.0407 . UTR3 . 0.0294045 . . . . . . . . 0.0347 Name\x3d99.732055 0 +4 120072006 MYOZ2 C T 1 0.000399361 0.0011 . . . . . . . 0.0018 . intronic . 0.000912 . . . . . . . . 0.0015 . 2 +4 120072187 MYOZ2 A G 4 0.00379393 0.0125 . 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 . 0.0098446 . . . . . . . . 0.0140 Name\x3d99.332482 -7 +4 120072233 MYOZ2 G C 145 0.54353 0.7029 . . . . . . . 0.6986 . intronic . 0.601726 . . . . . . . . 0.7245 . 2 +4 120072238 MYOZ2 A G 145 0.544129 0.7026 . . . . . . . 0.6987 . intronic . 0.6371 . . . . . . . . 0.7248 . 2 +4 120079159 MYOZ2 A G 145 0.546326 0.7052 . MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_16|not_specified|not_provided Benign . . . 0.6992 . intronic . 0.0002458 . . . . . . . . 0.7257 Name\x3d99.369454 -1 +4 120085448 MYOZ2 A G 7 0.0838658 0.0253 . 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 . . . 0.0245 synonymous_SNV exonic . 0.0428714 . . . . . . . . 0.0248 Name\x3d99.754084 -3 +4 120107098 MYOZ2 G GT 37 0.240216 0.2051 . MedGen:CN169374 not_specified Benign . . . 0.2672 . intronic . 0.0057502 . . . . . . . . 0.1878 Name\x3d97.515454 1 +4 186064502 SLC25A4 G A 4 0.0788738 0.0142 . MedGen:CN169374|MedGen:CN239267 not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions Benign Name\x3dENSR00000177010|Promoter . . 0.0185 . UTR5 . 0.0132857 . . Name\x3dOREG1514830|N/A|EGR1|PAZAR,OREG1274044|N/A|SMARCA4|PAZAR . . . . . 0.0099 Name\x3d99.145465 1 +4 186066373 SLC25A4 T C 2 0.00239617 0.0146 . MedGen:CN169374|MedGen:CN239267|MedGen:CN517202 not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions|not_provided Benign/Likely_benign Name\x3dENSR00000177010|Promoter . . 0.0106 synonymous_SNV exonic . 0.0085963 . . . . . . . . 0.0105 Name\x3d99.780542 0 +4 186067934 SLC25A4 G A 1 0.000199681 6.483e-05 . . . . . . . 1.841e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.870275 3 +4 186423397 PDLIM3 G A 1 0.00379393 0.0047 . . . . . . . 0.0038 . UTR3 . 0.0052069 . . . . . . . . 0.0052 . 2 +4 186423436 PDLIM3 G A 4 0.00858626 0.0131 . MedGen:CN169374 not_specified Benign . . . 0.0126 . UTR3 . 0.0109442 . . . . . . . . 0.0129 . 0 +4 186423637 PDLIM3 G A 153 0.659545 0.8586 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 0.8488 synonymous_SNV exonic . 0.778496 . . . . . . 0.0005 0.088 0.8535 Name\x3d97.078458 -3 +4 186423655 PDLIM3 G A 24 0.139177 0.1655 . MedGen:CN169374 not_specified Benign . . . 0.1599 . intronic . 0.156382 . . . . . . . . 0.1602 . 0 +4 186423677 PDLIM3 G A 153 0.659545 0.8588 . . . . . . . 0.8497 . intronic . 0.76966 . . . . . . . . 0.8542 . 0 +4 186425571 PDLIM3 A G 3 0.0369409 0.0126 . . . . . . . . . intronic . 0.0035575 . . Name\x3dOREG1725750|N/A|HNF4A|PAZAR,OREG1749494|N/A|HNF4A|PAZAR . . . . . . . 1 +4 186425638 PDLIM3 C T 1 0.000199681 0.0003 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 . 9.7e-05 T . Name\x3dOREG1749494|N/A|HNF4A|PAZAR,OREG1842298|N/A|RB1|PAZAR,OREG1302906|N/A|CEBPA|PAZAR,OREG1725750|N/A|HNF4A|PAZAR,OREG1787830|N/A|RBL2|PAZAR . B T . . 0.0003 Name\x3d98.515990 11.5 +4 186427686 PDLIM3 G A 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . . 4 +4 186427735 PDLIM3 G A 5 0.00559105 0.0279 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 . . . 0.0246 nonsynonymous_SNV exonic . 0.0175095 T . . . B D . . 0.0210 Name\x3d95.985870 -3 +4 186427841 PDLIM3 T C 154 0.764177 0.8605 . . . . . . . 0.8512 . intronic . 0.787085 . . . . . . . . 0.8549 . 0 +4 186427871 PDLIM3 A G 57 0.197883 0.1237 . . . . . . . . . intronic . 0.0281885 . . . . . . . . . . 0 +4 186435435 PDLIM3 C T 1 0.000599042 0.0023 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign . . . 0.0029 synonymous_SNV exonic . 0.00174 . . Name\x3dOREG1598303|N/A|FOXA1|PAZAR,OREG1656640|N/A|FOXA1|PAZAR,OREG1190569|N/A|TFAP2C|PAZAR . . . . . 0.0020 Name\x3d97.389337 0 +4 186435563 PDLIM3 A G 1 0.000199681 0.0002 . . . . . . . . . intronic . 0.0002305 . . Name\x3dOREG1656640|N/A|FOXA1|PAZAR,OREG1598303|N/A|FOXA1|PAZAR . . . . . . . 5 +4 186444698 PDLIM3 A C 160 0.719249 0.8747 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +4 186446257 PDLIM3 G A 2 0.00259585 0.0098 . 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 . . . 0.0108 synonymous_SNV exonic . 0.0078201 . . . . . . . . 0.0099 Name\x3d97.508747 -3 +4 186446365 PDLIM3 G A 1 0.000399361 0.0001 . . . . . . . 0.0002 . intronic . 0.0002587 . . . . . . . . 0.0001 . 4 +4 186456617 PDLIM3 A G 214 0.948283 0.9998 . . . . Name\x3dENSR00000177061|Promoter . . 0.9997 . UTR5 . 0.0052781 . . . . . . . . 0.9993 . 1 +5 218381 SDHA T TC 20 0.247005 0.1123 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208 Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency Likely_benign Name\x3dENSR00000177383|Promoter . . . . UTR5 . 0.025972 . . Name\x3dOREG1184337|N/A|TFAP2C|PAZAR,OREG1479573|N/A|E2F4|PAZAR,OREG1265680|N/A|SMARCA4|PAZAR,OREG1505826|N/A|EGR1|PAZAR,OREG1849817|N/A|RB1|PAZAR . . . . . . Name\x3d98.808005 3 +5 218598 SDHA G A 100 0.329872 0.4997 . . . . Name\x3dENSR00000177383|Promoter . . . . intronic . 0.403489 . . Name\x3dOREG1184337|N/A|TFAP2C|PAZAR,OREG1265680|N/A|SMARCA4|PAZAR,OREG1505826|N/A|EGR1|PAZAR . . . . . . Name\x3d98.862887 3 +5 223646 SDHA A T 8 0.0185703 0.0453 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified|not_provided Benign/Likely_benign . . . 0.0436 nonsynonymous_SNV exonic . 0.0349931 T . . . B T . . 0.0456 Name\x3d98.927148 2.5 +5 224418 SDHA T G 20 0.247404 0.1130 . . . . . . . . . intronic . 0.0229816 . . . . . . . . . . 1 +5 224633 SDHA A G 20 0.240016 0.1125 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1258 synonymous_SNV exonic . 0.149092 . . . . . . . . 0.1294 Name\x3d99.433347 2 +5 224684 SDHA G A 2 0.00439297 0.0047 . . . . . . . 0.0038 . intronic . 0.0042043 . . . . . . . . 0.0057 . 2 +5 224692 SDHA G T 20 0.244209 0.1128 . . . . . . . . . intronic . 0.0289065 . . . . . . . . . . 1 +5 225515 SDHA G T 1 0.00139776 0.0041 . MedGen:C3279992,OMIM:614165|MedGen:CN169374 Paragangliomas_5|not_specified Likely_benign . . . 0.0033 . intronic . 0.0018564 . . . . . . . . 0.0026 Name\x3d98.769861 3 +5 225709 SDHA G A 1 0.113019 0.0021 . . . . . . . 0.0032 . intronic . 0.0307564 . . . . . . . . 0.0034 Name\x3d96.985478 3 +5 225941 SDHA C T 40 0.307907 0.2578 . . . . . . . . . intronic . 0.0506656 . . . . . . . . . Name\x3d97.806467 2 +5 226160 SDHA A C 20 0.247404 0.1126 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1286 synonymous_SNV exonic . 0.154228 . . . . . . 0.0001 . 0.1359 Name\x3d99.261354 2 +5 226222 SDHA T C 20 0.247404 0.1128 . . . . . . . . . intronic . 0.0307435 . . . . . . . . . . 1 +5 228278 SDHA CT C 20 0.234625 0.1119 . MedGen:CN169374 not_specified Benign . . . 0.1274 . intronic . 0.0003752 . . . . . . . . 0.1308 Name\x3d96.209094 1 +5 228362 SDHA T C 20 0.247404 0.1130 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1282 synonymous_SNV exonic . 0.152249 . . . . . . . . 0.1360 Name\x3d99.311559 2 +5 230942 SDHA G C 3 0.000998403 . . . . . . . . . . intronic . 0.0001035 . . . . . . . . . Name\x3d97.527022 7 +5 230943 SDHA T C 3 0.000998403 . . . . . . . . . . intronic . 0.0001229 . . . . . . . . . Name\x3d97.527022 7 +5 230980 SDHA A G 167 0.858427 0.8849 . 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 . . . 0.8853 . intronic . 0.0002975 . . . . . . . . 0.8817 Name\x3d97.455746 3 +5 231042 SDHA C T 1 0.00998403 0.0025 . 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 . 0.0045407 . . . . . . . . 0.0036 Name\x3d98.877112 3 +5 231111 SDHA T C 140 0.653355 0.7581 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.7582 synonymous_SNV exonic . 0.693354 . . . . . . . . 0.7582 Name\x3d99.521608 3 +5 231143 SDHA T C 20 0.247404 0.1130 . . . . . . . 0.1281 . intronic . 0.152702 . . . . . . . . 0.1356 Name\x3d97.132462 2 +5 233560 SDHA G A 1 0.114018 0.0021 . . . . . . . 0.0032 . intronic . 0.0313515 . . . . . . . . 0.0035 . 2 +5 233572 SDHA A G 20 0.247204 0.1128 . MedGen:CN169374 not_specified Benign . . . 0.1284 . intronic . 0.153931 . . . . . . . . 0.1364 . 1 +5 233698 SDHA G A 2 0.000399361 0.0010 . 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 . . . 0.0012 synonymous_SNV exonic . 0.0008215 . . . . . . . . 0.0012 Name\x3d99.202933 3 +5 233734 SDHA C G 20 0.257788 0.1123 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1290 synonymous_SNV exonic . 0.157113 . . . . . . . . 0.1373 Name\x3d99.378984 2 +5 235345 SDHA C G 2 0.000399361 . 12.451 MedGen:C0027672,SNOMED_CT:699346009 Hereditary_cancer-predisposing_syndrome Pathogenic . . . 3.684e-05 stopgain exonic . 2.59e-05 . . . . . . . . . Name\x3d99.398012 13 +5 235364 SDHA C T 1 0.113618 0.0021 . 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 . 0.0312415 . . . . . . . . 0.0035 Name\x3d99.272564 3 +5 235416 SDHA T C 1 0.000199681 . 6.036 . . . . . . 1.844e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.452563 11 +5 236482 SDHA A G 2 0.00219649 . . . . . . . . . . intronic . 0.0004226 . . . . . . . . . . 2 +5 236587 SDHA G T 3 0.0151757 0.0199 . 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 . . . 0.0242 synonymous_SNV exonic . 0.0176582 . . . . . . . . 0.0208 Name\x3d99.137033 1 +5 236695 SDHA C T 1 0.000798722 0.0019 . 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 . 0.001934 . . . . . . . . 0.0036 Name\x3d99.192125 3 +5 236753 SDHA C T 20 0.246805 0.1111 . . . . . . . 0.1259 . intronic . 0.138763 . . . . . . . . 0.1336 . 1 +5 236760 SDHA C A 22 0.2498 0.1182 . . . . . . . 0.1356 . intronic . 0.143219 . . . . . . . . 0.1403 . 1 +5 240663 SDHA A T 20 0.247604 0.1125 . . . . . . . . . intronic . 0.0205883 . . . . . . . . . . 1 +5 251055 SDHA G A 1 0.00239617 0.0131 . . . . . . . . . intronic . 0.0011643 . . . . . . . . 0.0083 Name\x3d95.178484 1 +5 251178 SDHA G A 4 0.00199681 0.0016 . 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 . . . 0.0030 synonymous_SNV exonic . 0.0019922 . . . . . . . . 0.0028 Name\x3d99.035141 7 +5 251207 SDHA C T 1 0.000399361 . 3.930 MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5 Uncertain_significance . . . 1.841e-05 nonsynonymous_SNV exonic . 4.53e-05 D . . . P D . . . Name\x3d98.958665 8 +5 251419 SDHA C T 20 0.248203 0.1121 . . . . . . . 0.1198 . intronic . 0.118194 . . . . . . . . . Name\x3d97.297854 1 +5 251469 SDHA G A 20 0.248403 0.1123 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1291 synonymous_SNV exonic . 0.136589 . . . . . . . . . Name\x3d99.239810 1 +5 251526 SDHA C T 1 0.000199681 . . MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Likely_benign . . . 5.557e-05 synonymous_SNV exonic . 4.53e-05 . . . . . . . . . Name\x3d99.421960 5 +5 251541 SDHA A G 20 0.248403 0.1128 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1281 synonymous_SNV exonic . 0.0006145 . . . . . . . . 0.1357 Name\x3d99.431633 2 +5 254442 SDHA C T 214 0.973442 0.9998 . . . . . . . 0.9997 . intronic . 0.323974 . . Name\x3dOREG1196537|N/A|TFAP2C|PAZAR . . . . . . . 1 +5 254636 SDHA C T 17 0.0355431 0.1168 . 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 . . . 0.1189 . intronic . 0.0075096 . . Name\x3dOREG1196537|N/A|TFAP2C|PAZAR . . . . . . Name\x3d95.090341 2 +5 256422 SDHA A T 1 0.000399361 0.0003 . . . . . . . 0.0002 . intronic . 0.0001229 . . . . . . . . 0.0001 Name\x3d95.750638 5 +5 256472 SDHA G A 53 0.335264 0.1223 . 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1420 synonymous_SNV exonic . 0.166518 . . . . . . . . 0.1436 Name\x3d99.240301 2 +5 256509 SDHA G A 19 0.175319 0.1079 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|MedGen:CN517202 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified|not_provided Benign/Likely_benign . . . 0.1213 nonsynonymous_SNV exonic . 0.126143 T . . . B T . . 0.1299 Name\x3d98.946319 3.5 +5 37294473 NUP155 T C 68 0.277157 0.2890 . . . . . . . 0.3083 synonymous_SNV exonic . 0.28281 . . . . . . . . 0.2929 Name\x3d99.288645 1 +5 37298896 NUP155 C T 1 0.000199681 6.483e-05 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +5 37307389 NUP155 T C 5 0.0589058 0.0492 . . . . . . . 0.0420 . intronic . 0.0483823 . . . . . . . . 0.0406 Name\x3d96.994926 1 +5 37309371 NUP155 TAGA T 67 0.269169 0.2863 . . . . . . . 0.3048 . intronic . 0.0083375 . . . . . . . . 0.2911 Name\x3d96.956893 1 +5 37314287 NUP155 T TA 1 0.000599042 0.0023 . . . . . . . 0.0028 . intronic . 0.0001488 . . . . . . . . 0.0019 . 2 +5 37318029 NUP155 T C 1 0.000199681 0.0001 . . . . . . . . . intronic . 1.29e-05 . . . . . . . . . Name\x3d95.791170 5 +5 37325919 NUP155 A C 5 0.0423323 0.0477 . . . . . . . . . intronic . 0.0080788 . . . . . . . . . . 0 +5 37325940 NUP155 T C 26 0.147963 0.1649 . . . . . . . . . intronic . 0.0292881 . . . . . . . . 0.1479 . 0 +5 37327832 NUP155 G A 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d98.738026 5 +5 37328643 NUP155 T C 1 0.000599042 0.0018 . . . . . . . . . intronic . 0.0001746 . . . . . . . . . . 2 +5 37331795 NUP155 A G 1 0.00159744 0.0051 . . . . . . . 0.0070 synonymous_SNV exonic . 0.0045342 . . . . . . . . 0.0069 Name\x3d98.333359 3 +5 37333727 NUP155 A G 29 0.355032 0.1689 . . . . . . Name\x3dMIMAT0000272|hsa-miR-215-5p|Experimental,MIMAT0003393|hsa-miR-425-5p|Experimental 0.1698 synonymous_SNV exonic . 0.221685 . . . . . . . . 0.1599 Name\x3d99.118516 2 +5 37337942 NUP155 T C 1 0.000199681 . 2.170 . . . . . Name\x3dMIMAT0000256|hsa-miR-181a-5p|Experimental 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d98.711293 7.5 +5 37341352 NUP155 T C 50 0.188698 0.2135 . . . . . . . 0.2127 . intronic . 0.203574 . . . . . . 0.0001 0.002 0.2115 Name\x3d98.829204 1 +5 37350390 NUP155 C A 28 0.33766 0.1692 . . . . . . . 0.1654 . intronic . 0.215948 . . . . . . . . 0.1597 . 0 +5 37351270 NUP155 C A 1 0.000798722 0.0023 . . . . . . . 0.0015 . intronic . 0.00163 . . . . . . . . . . 2 +5 37352816 NUP155 C T 1 0.000798722 0.0002 . . . . . . . 0.0001 . intronic . 0.000207 . . . . . . . . 0.0002 . 2 +5 37352829 NUP155 G A 2 0.0656949 0.0032 . . . . . . . 0.0038 . intronic . 0.021882 . . . . . . . . 0.0041 . 0 +5 37364133 NUP155 CTTT C 1 0.0169728 0.0003 . . . . . . . 0.0002 . intronic . 0.0001552 . . . . . . . . 0.0005 . 0 +5 37364443 NUP155 C T 214 0.969649 0.9999 . . . . . . . 1.0000 synonymous_SNV exonic . 0.947614 . . . . . . . . 0.9999 Name\x3d99.426196 1 +5 37371059 NUP155 G A 4 0.0071885 0.0100 . . . . Name\x3dENSR00000179619|Promoter . . 0.0103 synonymous_SNV exonic . 0.0087903 . . Name\x3dOREG1898549|N/A|STAT1|PAZAR,OREG1236977|N/A|SMARCA4|PAZAR,OREG1786159|N/A|RBL2|PAZAR,OREG1792151|N/A|RBL2|PAZAR,OREG1841146|N/A|RB1|PAZAR,OREG1862360|N/A|SPI1|PAZAR,OREG1821245|N/A|RBL2|PAZAR,OREG1805811|N/A|RBL2|PAZAR,OREG1551289|N/A|ETS1|PAZAR,OREG1851033|N/A|RB1|PAZAR,OREG1846798|N/A|RB1|PAZAR . . . . . 0.0085 Name\x3d99.249928 3 +5 155756623 SGCD G T 1 0.000199681 0.0025 . . . . . . . 0.0026 . intronic . 0.0003493 . . . . . . . . 0.0020 . 2 +5 155771458 SGCD G T 1 0.00119808 0.0106 . . . . . . . 0.0138 . intronic . 0.0084928 . . . . . . . . 0.0128 Name\x3d99.400906 1 +5 155771579 SGCD T C 100 0.485423 0.4324 . MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign . . . 0.4358 synonymous_SNV exonic . 0.453118 . . . . . . . . 0.4316 Name\x3d99.799992 -3 +5 155935708 SGCD G A 9 0.0189696 0.0577 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 . . . 0.0641 nonsynonymous_SNV exonic . 0.0441327 T . . . P T . . 0.0642 Name\x3d99.317093 -1 +5 155935720 SGCD T C 3 0.00279553 0.0089 . 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 . . . 0.0086 . intronic . 0.006216 . . . . . . 0.0001 . 0.0091 Name\x3d99.569232 5 +5 156022101 SGCD G A 1 0.000399361 0.0006 . . . . . . . 0.0003 . intronic . 0.0006662 . . . . . . . . 0.0002 . 2 +5 156074654 SGCD TAAATTGA T 186 0.89996 0.8855 . . . . Name\x3dENSR00000774931|Enhancer . . . . intronic . 0.0004226 . . Name\x3dOREG1656508|N/A|FOXA1|PAZAR . . . . . . . 2 +5 172659511 na C A 71 0.255591 0.3627 . MedGen:CN169374 not_specified Benign . . . . . UTR3 . 0.0632786 . . Name\x3dOREG1497667|N/A|EGR1|PAZAR . . . . . . Name\x3d99.326052 0 +5 172660004 na C T 4 0.00479233 0.0060 . 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 . . . 0.0103 synonymous_SNV exonic . 0.0067722 . . Name\x3dOREG1497667|N/A|EGR1|PAZAR . . . . . 0.0077 Name\x3d99.955476 -4 +5 172660099 na C T 1 0.000199681 . 6.295 MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance . . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1497667|N/A|EGR1|PAZAR . P D . . . Name\x3d99.954493 7 +5 172660523 na T A 98 0.610623 0.2944 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000778148|Promoter . . 0.3978 . intronic . 0.0002393 . . . . . . . . . . -1 +5 172660527 na T A 85 0.403355 0.4262 . . . . Name\x3dENSR00000778148|Promoter . . 0.3689 . intronic . 0.0001035 . . . . . . . . . . -1 +5 172661690 na C T 1 0.00519169 0.0178 . . . . Name\x3dENSR00000778148|Promoter . . . . intronic . 0.0054557 . . Name\x3dOREG1497668|N/A|EGR1|PAZAR . . . . . . Name\x3d99.722202 1 +5 172661843 na A T 1 0.000199681 6.491e-05 1.130 . . . Name\x3dENSR00000778148|Promoter . . 4.083e-05 nonsynonymous_SNV exonic . 1.94e-05 T . Name\x3dOREG1497668|N/A|EGR1|PAZAR . B T . . . Name\x3d99.950030 6.5 +5 172662024 na T C 60 0.535743 0.2933 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000778148|Promoter . . 0.3030 synonymous_SNV exonic . 0.0015847 . . Name\x3dOREG1497668|N/A|EGR1|PAZAR . . . . . 0.2813 Name\x3d99.951883 -3 +6 7542148 DSP C CA 23 0.199681 0.1430 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000192801|Promoter . Name\x3dMIMAT0004776|hsa-miR-505-5p|Experimental 0.1680 . UTR5 . 0.0053233 . . . . . . . . 0.1456 Name\x3d99.934522 -1 +6 7542236 DSP G A 1 0.00219649 0.0016 -2.115 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011663,MedGen:C2063326|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000192801|Promoter . . 0.0034 nonsynonymous_SNV exonic . 0.0014812 T . . . B T . . 0.0019 Name\x3d99.934048 13.5 +6 7542253 DSP G A 3 0.00339457 0.0050 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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 Cardiomyopathy|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 Benign/Likely_benign Name\x3dENSR00000192801|Promoter . . 0.0164 synonymous_SNV exonic . 0.0050452 . . . . . . . . 0.0087 Name\x3d99.944163 -2 +6 7542274 DSP T C 15 0.0609026 0.0535 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign Name\x3dENSR00000192801|Promoter . . 0.1182 synonymous_SNV exonic . 0.0413449 . . . . . . . . 0.0524 Name\x3d99.927953 -2 +6 7556063 DSP C T 6 0.0125799 0.0338 . 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 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 Benign/Likely_benign . . . 0.0371 . intronic . 0.023719 . . . . . . . . 0.0378 Name\x3d97.662519 -3 +6 7558318 DSP T C 59 0.15615 0.2280 . MedGen:CN169374 not_specified Benign . . . 0.2353 . intronic . 0.195897 . . Name\x3dOREG1605381|N/A|FOXA1|PAZAR,OREG1663620|N/A|FOXA1|PAZAR . . . . . 0.2349 Name\x3d98.908118 2 +6 7563982 DSP C T 1 0.000199681 . 2.649 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 3.23e-05 D . . . D D . . . Name\x3d99.831270 8 +6 7563983 DSP T G 214 1 0.9992 . MedGen:CN169374 not_specified Likely_benign . . . 0.9985 synonymous_SNV exonic . 0.964399 . . . . . . . . 0.9981 Name\x3d99.831270 1 +6 7564139 DSP C G 60 0.345647 0.2847 . . . . . . . . . intronic . 0.0593524 . . . . . . . . . . 0 +6 7565627 DSP G T 1 0.000199681 . 2.456 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B D . . . Name\x3d99.896415 5 +6 7565727 DSP A T 10 0.0183706 0.0389 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 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 Conflicting_interpretations_of_pathogenicity . . . 0.0386 nonsynonymous_SNV exonic . 0.0303877 D . . . D D . . 0.0419 Name\x3d99.907885 15 +6 7565801 DSP C G 1 0.000199681 . . . . . . . . 1.844e-05 . intronic . 1.29e-05 . . . . . . . . . . 4 +6 7566745 DSP G GA 4 0.0239617 0.0009 . . . . . . . 0.0776 . intronic . 0.0002846 . . . . . . . . 0.0299 Name\x3d97.223129 1 +6 7567970 DSP C T 166 0.772764 0.7559 . MedGen:CN169374 not_specified Benign . . . 0.7653 . intronic . 0.75272 . . . . . . . . 0.7752 . 0 +6 7569353 DSP T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +6 7571874 DSP G A 167 0.819688 0.7604 . . . . . . . . . intronic . 0.150134 . . . . . . . . . Name\x3d97.423943 1 +6 7572026 DSP T A 92 0.508986 0.4026 . MedGen:CN169374 not_specified Benign . . . 0.4082 . intronic . 0.442459 . . . . . . . . 0.4183 . 0 +6 7572262 DSP A G 167 0.774361 0.76 . MedGen:CN169374 not_specified Benign . . . 0.7690 synonymous_SNV exonic . 0.750851 . . . . . . . . 0.7795 Name\x3d99.831281 1 +6 7574536 DSP T C 4 0.140974 0.0083 . . . . . . . 0.0123 . intronic . 0.0680586 . . . . . . . . 0.0104 Name\x3d96.085969 1 +6 7574852 DSP T C 15 0.0638978 0.0532 . . . . . . . 0.0544 . intronic . 0.0523991 . . . . . . . . 0.0577 Name\x3d99.336561 1 +6 7576527 DSP G A 170 0.735423 0.7828 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign . . . 0.7990 synonymous_SNV exonic . 0.76891 . . . . . . 0.0001 0.03 0.8024 Name\x3d99.670850 -3 +6 7577260 DSP C T 50 0.27516 0.2310 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign . . . 0.2189 synonymous_SNV exonic . 0.238263 . . Name\x3dOREG1934472|N/A|TAL1|PAZAR . . . . . 0.2159 Name\x3d99.933623 -2 +6 7577354 DSP C A 141 0.69389 0.6020 . . . . . . . . . intronic . 0.123064 . . Name\x3dOREG1934472|N/A|TAL1|PAZAR . . . . . . Name\x3d96.351438 2 +6 7578189 DSP G A 62 0.279353 0.3079 . . . . . . . . . intronic . 0.296219 . . . . . . . . . Name\x3d97.980652 1 +6 7578819 DSP T G 170 0.740016 0.7803 . MedGen:CN169374 not_specified Benign . . . 0.7987 . intronic . 0.75261 . . . . . . . . 0.8023 Name\x3d99.050066 1 +6 7578823 DSP G A 170 0.764377 0.7818 . MedGen:CN169374 not_specified Benign . . . 0.7991 . intronic . 0.004573 . . . . . . . . 0.8030 Name\x3d97.850793 1 +6 7579705 DSP G C 1 0.000199681 . 5.683 . . . . . . 3.683e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . P D . . . Name\x3d99.930087 8 +6 7580285 DSP A C 1 0.000399361 6.486e-05 0.765 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: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|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000782355|TF_binding_site,ENSR00000192808|Promoter . . 0.0004 nonsynonymous_SNV exonic . 0.0002975 D . Name\x3dOREG1934472|N/A|TAL1|PAZAR . D T . . 0.0001 Name\x3d99.952498 18 +6 7580346 DSP G C 1 0.000199681 . 4.219 . . . Name\x3dENSR00000782355|TF_binding_site,ENSR00000192808|Promoter . . 3.699e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . P D . . . Name\x3d99.910344 6 +6 7580386 DSP G A 3 0.00579073 0.0168 . 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 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 Benign/Likely_benign Name\x3dENSR00000782355|TF_binding_site . . 0.0199 synonymous_SNV exonic . 0.0135186 . . . . . . . . 0.0149 Name\x3d99.955118 -2 +6 7580935 DSP C T 1 0.000199681 . . . . . . . . 1.842e-05 synonymous_SNV exonic . 1.29e-05 . . Name\x3dOREG1663621|N/A|FOXA1|PAZAR,OREG1685201|N/A|GATA3|PAZAR . . . . . . Name\x3d99.855564 6 +6 7580958 DSP A G 8 0.203275 0.0386 0.670 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign . . . 0.0457 nonsynonymous_SNV exonic . 0.109785 T . Name\x3dOREG1663621|N/A|FOXA1|PAZAR,OREG1685201|N/A|GATA3|PAZAR . P T . . 0.0442 Name\x3d99.927395 -0.5 +6 7581001 DSP C A 1 0.0511182 0.0003 -0.527 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 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 Benign . . . 0.0005 nonsynonymous_SNV exonic . 0.0130723 T . Name\x3dOREG1685201|N/A|GATA3|PAZAR,OREG1663621|N/A|FOXA1|PAZAR . B T . . 0.0007 Name\x3d99.907499 -4.5 +6 7581196 DSP G A 2 0.0071885 0.0169 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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 Cardiomyopathy|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 Benign/Likely_benign . . . 0.0198 synonymous_SNV exonic . 0.013635 . . Name\x3dOREG1663621|N/A|FOXA1|PAZAR . . . . . 0.0174 Name\x3d99.942304 -2 +6 7581636 DSP G A 33 0.240415 0.1256 0.509 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.1221 nonsynonymous_SNV exonic . 0.167656 T . Name\x3dOREG1308513|N/A|CEBPA|PAZAR . B T . . 0.1257 Name\x3d99.874629 -0.5 +6 7581641 DSP G A 1 0.000399361 0.0010 0.993 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0002076,MedGen:C3887485,OMIM:157300,SNOMED_CT:37796009|Human_Phenotype_Ontology:HP:0002301,MedGen:C0018991|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:CN517202 Primary_dilated_cardiomyopathy|Migraine|Hemiplegia|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|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0017 nonsynonymous_SNV exonic . 0.0012872 T . Name\x3dOREG1308513|N/A|CEBPA|PAZAR . D D . . 0.0013 Name\x3d99.893308 15 +6 7582993 DSP A T 6 0.00399361 0.0148 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: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|not_provided Conflicting_interpretations_of_pathogenicity . . Name\x3dMIMAT0000076|hsa-miR-21-5p|Experimental 0.0142 nonsynonymous_SNV exonic . 0.0092431 T . . . D D . . 0.0130 Name\x3d99.955679 13 +6 7583885 DSP T C 3 0.00658946 0.0126 . 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 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 Benign/Likely_benign . . . 0.0123 synonymous_SNV exonic . 0.0102909 . . . . . . . . 0.0136 Name\x3d99.934046 -3 +6 7583946 DSP C T 1 0.000199681 . 6.649 MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma Uncertain_significance . . . . nonsynonymous_SNV exonic . 7.12e-05 D . . . D D . . . Name\x3d99.943048 11 +6 7584617 DSP C T 83 0.211661 0.3326 . MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype Benign . . . 0.3558 synonymous_SNV exonic . 0.289957 . . . . . . . . 0.3690 Name\x3d99.934879 -3 +6 7584876 DSP C T 1 0.000199681 . 5.363 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.943321 11 +6 7585670 DSP C A 9 0.0239617 0.0611 . 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 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 Benign/Likely_benign . . Name\x3dMIMAT0000415|hsa-let-7i-5p|Experimental,MIMAT0000096|hsa-miR-98-5p|Experimental,MIMAT0000064|hsa-let-7c-5p|Experimental 0.0680 synonymous_SNV exonic . 0.0466618 . . Name\x3dOREG0600254|N/A|ELF1|JASPAR . . . . . 0.0633 Name\x3d99.921658 -1 +6 7585967 DSP G C 153 0.709465 0.6834 . 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:C4014393,OMIM:615821|MedGen:CN169374|MedGen:CN230736 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|Cardiomyopathy,_dilated,_with_woolly_hair,_keratoderma,_and_tooth_agenesis|not_specified|Cardiovascular_phenotype Benign . . . 0.7106 synonymous_SNV exonic . 0.139468 . . . . . . . . 0.7173 Name\x3d99.911143 -7 +6 7586120 DSP T A 2 0.00319489 0.0071 . 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: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|not_provided Benign/Likely_benign . . Name\x3dMIMAT0000451|hsa-miR-150-5p|Experimental 0.0071 . UTR3 . 0.0055821 . . . . . . . . 0.0109 Name\x3d99.702399 -2 +6 26087649 LOC108783645 G A 1 0.000199681 . . . . . Name\x3dENSR00000786464|Promoter . . 0.0001 . ncRNA_exonic . 5.82e-05 . . Name\x3dOREG1253332|N/A|SMARCA4|PAZAR,OREG1491899|N/A|EGR1|PAZAR,OREG1798393|N/A|RBL2|PAZAR . . . . . 0.0002 Name\x3d99.351223 5 +6 26087856 LOC108783645 T A 71 0.39377 0.4142 . . . . Name\x3dENSR00000786464|Promoter . . . . ncRNA_exonic . 0.397994 . . Name\x3dOREG1491899|N/A|EGR1|PAZAR,OREG1253332|N/A|SMARCA4|PAZAR,OREG1798393|N/A|RBL2|PAZAR . . . . . . Name\x3d99.260303 3 +6 26091047 LOC108783645 A G 1 0.000199681 0.0003 . . . . . . . 0.0001 . ncRNA_exonic . 0.0002264 . . . . . . . . 0.0002 Name\x3d97.355485 3 +6 26091179 HFE C G 38 0.0730831 0.1452 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 . . . 0.1334 nonsynonymous_SNV exonic rs1799945|Systolic-blood-pressure|0.627|8E-10|PMID:28739976 0.109171 D . . . B D . . 0.1513 Name\x3d99.738438 3 +6 26091185 HFE A T 1 0.00399361 0.0137 4.972 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200 Hereditary_hemochromatosis|Hemochromatosis_type_1 Uncertain_significance . . . 0.0146 nonsynonymous_SNV exonic . 0.0102263 D . . . D D . . 0.0151 Name\x3d99.765894 2 +6 26091309 HFE T C 1 0.000199681 . 3.831 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D T . . . Name\x3d99.757263 6 +6 26091336 HFE T C 75 0.426717 0.3210 . MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374 Hereditary_hemochromatosis|not_specified Benign/Likely_benign . . . 0.3174 . intronic rs2071303|Number-of-sexual-partners|0.013890003|2E-8|PMID:30643258 0.363973 . . . . . . . 0.014 0.3356 Name\x3d99.669660 -1 +6 26092865 HFE C G 1 0.0425319 0.0013 . . . . . . . 0.0017 . intronic . 0.0127359 . . . . . . . . 0.0007 Name\x3d99.349569 -1 +6 26093125 HFE G A 1 0.00179712 0.0003 5.999 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200|MedGen:CN517202 Hereditary_hemochromatosis|Hemochromatosis_type_1|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0006 nonsynonymous_SNV exonic . 0.0032859 T . . . D D . . 0.0007 Name\x3d99.712262 4 +6 26093141 HFE G A 6 0.0125799 0.0595 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 . . . 0.0504 nonsynonymous_SNV exonic rs1800562|Cholesterol,-total|0.056|2E-12|PMID:24097068 0.0349737 D . . . D D . . 0.0641 Name\x3d99.809052 6 +6 26093236 HFE G A 16 0.13139 0.1255 . . HFE_INTRONIC_POLYMORPHISM Benign . . . 0.1288 . intronic . 0.129895 . . . . . . . . 0.1291 Name\x3d98.119702 -1 +6 26093297 HFE G A 1 0.00319489 0.0110 . . . . . . . 0.0102 . intronic . 0.006727 . . . . . . . . 0.0083 Name\x3d96.191714 -1 +6 26093303 HFE T C 13 0.21865 0.0653 . . . . . . . 0.0694 . intronic . 0.137831 . . . . . . . . 0.0628 Name\x3d96.397956 -1 +6 26094346 HFE G A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d96.229116 3 +6 26094367 HFE G A 91 0.590655 0.4531 . . . . . . . 0.4518 . intronic . 0.504263 . . . . . . . . 0.4708 Name\x3d95.797290 -1 +6 26094515 HFE C T 1 0.0091853 0.0004 . . . . . . . . . UTR3 . 0.0004722 . . . . . . . . . . 0 +6 76538403 MYO6 G A 110 0.687899 0.5244 . . . . . . . . . intronic . 0.111072 . . . . . . . . . . 0 +6 76540088 MYO6 A G 1 0.000199681 0.0002 . . . . . . . 0.0002 . intronic . 0.0001682 . . . . . . . . . . 4 +6 76545684 MYO6 T C 33 0.102636 0.1481 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign . . . 0.1494 . intronic . 0.0008344 . . . . . . . . 0.1521 Name\x3d97.846450 1 +6 76550237 MYO6 A G 33 0.102835 0.1476 . . . . . . . . . intronic . 0.0248897 . . . . . . . . . . 0 +6 76554593 MYO6 G A 209 0.997804 0.9875 . . . . . . . 0.9845 . intronic . 0.0003234 . . . . . . . . 0.9868 Name\x3d96.069541 1 +6 76558200 MYO6 G A 1 0.000199681 0.0004 3.506 MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Conflicting_interpretations_of_pathogenicity . . . 0.0003 nonsynonymous_SNV exonic . 0.0002911 T . . . D T . . 0.0002 Name\x3d99.377391 5 +6 76558260 MYO6 A AT 7 0.139577 0.0577 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign . . . 0.0587 . intronic . 0.0002005 . . . . . . . . 0.0583 Name\x3d96.410949 1 +6 76564953 MYO6 A G 2 0.0265575 0.0147 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign Name\x3dENSR00000796121|TF_binding_site . . 0.0139 synonymous_SNV exonic . 0.0164552 . . . . . . . . 0.0130 Name\x3d99.559899 2 +6 76566810 MYO6 A G 3 0.00199681 0.0038 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0031 . intronic . 0.0023286 . . . . . . . 0.002 0.0042 . 6 +6 76572240 MYO6 T G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +6 76572389 MYO6 A G 1 0.000199681 . . . . . . . . 1.842e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.270533 5 +6 76576290 MYO6 C T 14 0.0289537 0.0593 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439|MedGen:CN517202 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive|not_provided Benign/Likely_benign . . . 0.0627 synonymous_SNV exonic . 0.0509178 . . . . . . . . 0.0609 Name\x3d99.138922 1 +6 76595634 MYO6 C A 33 0.1252 0.1481 . . . . . . . . . intronic . 0.0258664 . . . . . . . . . Name\x3d96.128717 1 +6 76596728 MYO6 C T 71 0.147764 0.3233 . MedGen:CN169374 not_specified Benign . . . 0.3198 . intronic . 0.251691 . . . . . . . . 0.3349 . 2 +6 76599787 MYO6 C T 1 0.000399361 0.0001 3.313 MedGen:CN239435|MedGen:CN239439 Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Uncertain_significance . . . 3.689e-05 nonsynonymous_SNV exonic . 0.0001423 D . . . D D . . 0.0001 Name\x3d99.077154 8 +6 76607983 MYO6 T A 84 0.348842 0.3908 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 1 +6 76608251 MYO6 T C 1 0.00139776 0.0013 . . . . . . . . . intronic . 0.0002717 . . . . . . . . . Name\x3d97.332260 3 +6 76617511 MYO6 A ATGTGTGTG 53 0.138778 0.3128 . . . . . . . . . intronic . 0.0001537 . . Name\x3dOREG1603746|N/A|FOXA1|PAZAR . . . . . . . 1 +6 76618299 MYO6 A G 1 0.000199681 6.482e-05 2.531 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 8.41e-05 T . . . B T . . 0.0001 Name\x3d99.596500 6.5 +6 76624538 MYO6 G A 5 0.00559105 0.0091 7.271 MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign . . . 0.0145 nonsynonymous_SNV exonic . 0.0094953 D . . . D D . . 0.0130 Name\x3d99.624047 7 +6 76624741 MYO6 C T 71 0.146965 0.3223 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign . . Name\x3dMIMAT0000430|hsa-miR-138-5p|Experimental 0.3597 . UTR3 . 0.249841 . . . . . . . . 0.3343 Name\x3d97.069782 4 +6 112430850 LAMA4 C T 2 0.0463259 . . . . . Name\x3dENSR00001114943|Enhancer . . . . intronic . 0.0107192 . . . . . . . . . Name\x3d98.554391 2 +6 112435264 LAMA4 T G 55 0.240016 0.2617 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.2671 . intronic . 0.241316 . . . . . . . . 0.2706 Name\x3d98.367788 -3 +6 112435273 LAMA4 A C 55 0.240016 0.2620 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.2671 . intronic . 0.241323 . . . . . . 0.0001 0.028 0.2716 Name\x3d99.277984 -3 +6 112435335 LAMA4 G A 1 0.000599042 . 7.024 MedGen:CN169374 not_specified Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0003687 D . . . D D . . . Name\x3d99.359547 9 +6 112435444 LAMA4 G GAAT 55 0.240815 0.2639 . . . . . . . 0.2655 . intronic . 0.0071603 . . . . . . . . 0.2699 Name\x3d96.804649 1 +6 112435796 LAMA4 G C 56 0.240815 0.2680 . . . . . . . . . intronic . 0.0498441 . . . . . . . . . . 0 +6 112435807 LAMA4 G T 56 0.227236 0.2680 . . . . . . . . . intronic . 0.0493525 . . . . . . . . . Name\x3d95.406150 1 +6 112435912 LAMA4 A T 59 0.281749 0.2854 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.2908 synonymous_SNV exonic . 0.268043 . . . . . . . . 0.2894 Name\x3d99.275632 -3 +6 112438912 LAMA4 GA G 31 0.229233 0.2038 . . . . . . . 0.1778 . intronic . 0.0059055 . . Name\x3dOREG0743312|N/A|JUNB|JASPAR,OREG0770517|N/A|JUND|JASPAR,OREG0642785|N/A|FOS|JASPAR . . . . . 0.1688 Name\x3d99.088779 2 +6 112439071 LAMA4 G C 1 0.00139776 . 3.989 . . . . . . 3.754e-05 nonsynonymous_SNV exonic . 4.53e-05 T . . . D T . . . Name\x3d99.581503 3 +6 112440311 LAMA4 C G 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d95.923160 5 +6 112440380 LAMA4 T C 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.306844 5 +6 112440464 LAMA4 G A 2 0.0666933 0.0007 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0013 synonymous_SNV exonic . 0.0197734 . . . . . . . . 0.0020 Name\x3d99.380826 -3 +6 112441727 LAMA4 A C 1 0.000199681 . . . . . . . . 2.304e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d98.469218 5 +6 112451012 LAMA4 A AT 1 0.00579073 0.0033 . . . . . . . . . intronic . 0.0008837 . . . . . . . . . Name\x3d98.847505 3 +6 112457383 LAMA4 G C 55 0.210463 0.2529 4.097 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.2549 nonsynonymous_SNV exonic . 0.222753 T . . . D T . . 0.2603 Name\x3d99.345281 -3 +6 112457390 LAMA4 C T 142 0.839856 0.7201 2.280 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.7013 nonsynonymous_SNV exonic . 0.713031 T . . . B T . . 0.6965 Name\x3d99.345281 -1.5 +6 112457471 LAMA4 G A 142 0.840455 0.7195 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.7012 . intronic . 0.725036 . . . . . . . . 0.6959 Name\x3d96.986079 -3 +6 112460365 LAMA4 C T 1 0.00359425 0.0136 8.015 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0137 nonsynonymous_SNV exonic . 0.0099158 D . . . D D . . 0.0130 Name\x3d99.767722 3 +6 112460511 LAMA4 C T 1 0.00159744 0.0003 . MedGen:CN169374 not_specified Likely_benign . . . 0.0003 . intronic . 0.000608 . . . . . . . . 0.0006 Name\x3d98.702303 3 +6 112460541 LAMA4 G A 60 0.300519 0.2592 . . . . . . . 0.2625 . intronic . 0.255223 . . . . . . . . 0.27 Name\x3d99.040131 2 +6 112461135 LAMA4 C T 1 0.000798722 0.0019 . . . . . . . 0.0020 . intronic . 0.0016235 . . . . . . . . 0.0023 . 2 +6 112463253 LAMA4 T G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d98.913721 5 +6 112463419 LAMA4 C T 1 0.000199681 0.0001 1.299 MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0002 nonsynonymous_SNV exonic . 7.76e-05 T . . . B T . . 0.0002 Name\x3d99.626879 14.5 +6 112463545 LAMA4 G A 1 0.000798722 0.0005 . . . . . . . 0.0004 . intronic . 0.0003816 . . . . . . . . 0.0001 . 2 +6 112466086 LAMA4 C T 1 0.000798722 . . MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 1.842e-05 synonymous_SNV exonic . 0.0002199 . . . . . . . . . Name\x3d99.265517 -1 +6 112469480 LAMA4 C T 1 0.000199681 0.0002 . MedGen:C3808935,OMIM:615235 Dilated_cardiomyopathy_1JJ Likely_benign . . . 9.204e-05 synonymous_SNV exonic . 6.47e-05 . . . . . . . . . Name\x3d99.514261 3 +6 112471688 LAMA4 G C 64 0.3127 0.2636 . . . . . . . 0.2703 . intronic . 0.266303 . . Name\x3dOREG1790553|N/A|RBL2|PAZAR . . . . . 0.2797 Name\x3d99.042535 3 +6 112476210 LAMA4 T C 63 0.3127 0.2644 . . . . . . . . . intronic . 0.0001537 . . . . . . . . . Name\x3d95.535879 2 +6 112480041 LAMA4 A G 22 0.091254 0.1284 . MedGen:CN169374 not_specified Benign . . . 0.0979 synonymous_SNV exonic . 0.100413 . . . . . . . . 0.0881 Name\x3d99.214315 1 +6 112486397 LAMA4 G A 2 0.000798722 0.0030 4.719 MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype|not_provided Likely_benign . . . 0.0022 nonsynonymous_SNV exonic . 0.0015782 T . . . D T . . 0.0023 Name\x3d98.968811 -1 +6 112493774 LAMA4 C T 2 0.00139776 0.0040 . . . . . . . 0.0040 . intronic . 0.0029301 . . . . . . . . 0.0053 . 2 +6 112493790 LAMA4 T C 2 0.000399361 0.0007 . . . . . . . 0.0008 . intronic . 0.0003752 . . . . . . . . 0.0007 Name\x3d97.068222 3 +6 112493872 LAMA4 A G 140 0.758387 0.6042 -0.041 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign Name\x3dENSR00000802030|Enhancer . . 0.5987 nonsynonymous_SNV exonic . 0.657656 T . . . B T . . 0.6020 Name\x3d99.462924 -0.5 +6 112496511 LAMA4 C A 6 0.08127 0.0108 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0155 . intronic . 0.0308728 . . . . . . . 0.002 0.0110 Name\x3d99.590685 -3 +6 112496690 LAMA4 G C 2 0.0315495 0.0005 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0005 . intronic . 0.009353 . . . . . . 0.0035 0.076 0.0005 Name\x3d99.698308 -3 +6 112499245 LAMA4 G A 2 0.0329473 0.0005 . . . . . . . . . intronic . 0.011065 . . . . . . . . . Name\x3d98.891877 1 +6 112506375 LAMA4 G A 111 0.416933 0.4530 . . . . . . . . . intronic . 0.0901023 . . . . . . . . . Name\x3d98.726170 1 +6 112506583 LAMA4 G T 168 0.900559 0.7044 . . . . . . . 0.7126 . intronic . 0.769654 . . . . . . . . 0.7115 . 0 +6 112508745 LAMA4 G A 1 0.000199681 0.0003 . MedGen:CN169374 not_specified Likely_benign . . . 0.0003 synonymous_SNV exonic . 0.0001423 . . . . . . . . 0.0005 Name\x3d99.039803 3 +6 112508769 LAMA4 T G 214 1 1 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 1 synonymous_SNV exonic . 0.911056 . . . . . . . . . Name\x3d99.206740 -3 +6 112508770 LAMA4 G T 214 1 1 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign . . . 1 nonsynonymous_SNV exonic . 0.91046 . . . . . . . . . Name\x3d99.206740 -1.5 +6 112512905 LAMA4 G A 28 0.316893 0.1515 . MedGen:CN169374 not_specified Benign . . . 0.1337 synonymous_SNV exonic . 0.191201 . . Name\x3dOREG1309126|N/A|CEBPA|PAZAR . . . . . 0.1219 Name\x3d99.475759 2 +6 112522852 LAMA4 G A 14 0.0309505 0.0645 7.272 MedGen:CN169374 not_specified Benign . . . 0.0603 nonsynonymous_SNV exonic . 0.0517975 T . . . D D . . 0.0649 Name\x3d99.323231 4 +6 112522893 LAMA4 A C 3 0.0207668 0.0102 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0151 . intronic . 0.012917 . . . . . . 0.0005 0.044 0.0103 Name\x3d98.473566 -3 +6 112528149 LAMA4 AAAACA AAAACAAAACAAAACG,A 3 . . . . . . . . . . . intronic . . . . . . . . . . . Name\x3d96.329973 11 +6 112537497 LAMA4 A G 92 0.489417 0.3344 . . . . . . . . . intronic . 0.0711181 . . . . . . . . . Name\x3d97.880294 1 +6 112537682 LAMA4 A G 9 0.0121805 0.0215 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign . . . 0.0260 . intronic . 0.0188613 . . . . . . 0.0091 0.142 0.0195 Name\x3d97.230869 -3 +6 112574962 LOC101927640 C T 1 0.000199681 . . . . . Name\x3dENSR00000201313|Promoter . . 1.842e-05 . ncRNA_intronic . 1.29e-05 . . . . . . . . . Name\x3d99.130178 4 +6 112575203 LAMA4 C T 2 0.000399361 0.0001 . MedGen:C3808935,OMIM:615235 Dilated_cardiomyopathy_1JJ Likely_benign Name\x3dENSR00000201313|Promoter . . 0.0001 synonymous_SNV exonic . 4.53e-05 . . . . . . . . . Name\x3d99.836769 4 +6 118880029 PLN C T 1 0.000599042 0.0008 . . . . . . . . . UTR5 . 0.00073 . Name\x3dOREG0070927|N/A|N/A|VistaEnhancers . . . . . . . . 3 +6 121768710 GJA1 G A 4 0.034345 0.0156 . Human_Phenotype_Ontology:HP:0001159,MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:C4551854,OMIM:241550|MedGen:CN169374 Syndactyly|Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|Hypoplastic_left_heart_syndrome_1|not_specified Benign/Likely_benign . . . 0.0123 synonymous_SNV exonic . 0.0190166 . . . . . . . . 0.0148 Name\x3d99.946027 -1 +6 121768751 GJA1 C T 4 0.00299521 0.0120 0.820 MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN169374 Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|not_specified Benign/Likely_benign . . . 0.0121 nonsynonymous_SNV exonic . 0.0085186 T . . . B T . . 0.0160 Name\x3d99.895947 0.5 +6 121769144 GJA1 T TA 3 0.0579073 0.0520 . Human_Phenotype_Ontology:HP:0001159,MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C4551854,OMIM:241550|MedGen:CN169374 Syndactyly|Oculodentodigital_dysplasia|Hypoplastic_left_heart_syndrome_1|not_specified Benign . . Name\x3dMIMAT0000416|hsa-miR-1-3p|Experimental 0.0441 . UTR3 . 0.0028331 . . . . . . . . 0.0471 Name\x3d99.797641 0 +6 123539684 TRDN C T 174 0.761182 0.7906 . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Benign . . . . . UTR3 . 0.0374981 . . . . . . . . . Name\x3d97.644000 -5 +6 123539685 TRDN T C 106 0.465256 0.4554 . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Benign . . . . . UTR3 . 0.0474573 . . . . . . . . . Name\x3d97.644000 -5 +6 123539904 TRDN C T 106 0.375998 0.4524 . MedGen:CN169374 not_specified Benign . . . 0.5017 . intronic . 0.0027361 . . . . . . . . 0.4593 . -2 +6 123542784 TRDN C A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +6 123545159 TRDN GA G 110 0.50639 0.4790 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +6 123580660 TRDN C T 119 0.335264 0.5102 . . . . . . . . . intronic . 0.471608 . . . . . . . . . . -2 +6 123580675 TRDN C T 40 0.319888 0.1894 . . . . . . . . . intronic . 0.218227 . . . . . . . . . . -2 +6 123581843 TRDN T A 1 0.00279553 . . . . . . . . . . intronic . 0.0005379 . . . . . . . . . . 0 +6 123588810 TRDN A G 1 0.00239617 0.0040 . . . . . . . 0.0061 . intronic . 0.0020698 . . . . . . . . 0.0037 . 0 +6 123591138 TRDN T A 40 0.324481 0.1890 . . . . . . . . . intronic . 0.0413578 . . . . . . . . . Name\x3d97.014060 -1 +6 123594217 TRDN G A 5 0.00219649 0.0055 . . . . . . . . . intronic . 0.003381 . . . . . . . . . . 8 +6 123594426 TRDN G A 1 0.00119808 0.0038 . . . . . . . . . intronic . 0.000401 . . . . . . . . . . 0 +6 123594510 TRDN T TA 40 0.262979 0.1884 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.2173 . splicing . 0.0025097 . . . . . . . . 0.1584 Name\x3d98.750889 5 +6 123594634 TRDN G T 1 0.000399361 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 2 +6 123595869 TRDN A C 40 0.263179 0.1886 . . . . . . . . . intronic . 0.0054941 . . . . . . . . 0.1708 . -2 +6 123599505 TRDN A C 2 0.00279553 0.0077 . MedGen:CN169374 not_specified Benign/Likely_benign . . . 0.0175 . intronic . 0.0025032 . . . . . . . . 0.0092 Name\x3d98.417645 -1 +6 123600184 TRDN G A 1 0.000199681 0.0003 . MedGen:CN169374 not_specified Likely_benign . . . 0.0002 . intronic . 0.00011 . . . . . . . . 0.0001 Name\x3d99.105353 3 +6 123600356 TRDN T A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +6 123653127 TRDN A G 1 0.000798722 0.0053 . . . . . . . . . intronic . 0.0007244 . . . . . . . . 0.0047 . 0 +6 123658671 TRDN T C 58 0.222843 0.3058 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +6 123658680 TRDN A G 104 0.305511 0.4198 . . . . . . . . . intronic . 0.0001921 . . . . . . . . . . -2 +6 123658825 TRDN G T 40 0.29373 0.1880 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign . . . 0.2001 . intronic . 0.0758722 . . . . . . 0.0022 0.212 0.1503 Name\x3d98.733696 -5 +6 123673628 TRDN C T 11 0.00898562 0.0474 . . . . . . . 0.0408 . UTR3 . 0.0264874 . . . . . . . . 0.0399 Name\x3d99.804325 -1 +6 123673672 TRDN A AT 1 0.00179712 0.0004 . MedGen:CN169374 not_specified Uncertain_significance . . . 0.0002 stoploss exonic . 0.0002652 . . . . . . . . 0.0006 Name\x3d99.832957 9 +6 123687288 TRDN A C 202 0.939297 0.9148 0.489 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign . . . 0.9100 nonsynonymous_SNV exonic . 0.0001811 T . . . B T . . 0.9156 Name\x3d99.593905 -3.5 +6 123687318 TRDN C T 1 0.000399361 0.0001 2.244 . . . . . . 3.761e-05 nonsynonymous_SNV exonic . 3.88e-05 T . . . B T . . . Name\x3d99.504067 4.5 +6 123687432 TRDN T C 202 0.954473 0.9147 . . . . . . . . . intronic . 0.177637 . . . . . . . . . Name\x3d99.236441 -1 +6 123696766 TRDN G T 32 0.147364 0.1292 0.783 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1469 nonsynonymous_SNV exonic . 0.0677352 T . . . B T . . 0.1188 Name\x3d99.738983 -0.5 +6 123698748 TRDN A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +6 123699019 TRDN A C 23 0.169129 0.1681 2.548 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1874 nonsynonymous_SNV exonic . 0.133937 T . . . B D . . 0.1454 Name\x3d99.591453 -2 +6 123699042 TRDN T C 91 0.272165 0.3632 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4458 synonymous_SNV exonic . 0.244874 . . . . . . 0.0023 0.126 0.3635 Name\x3d99.594866 -3 +6 123702499 TRDN G A 64 0.476238 0.3621 . MedGen:CN169374 not_specified Benign . . . 0.3762 . intronic . 0.0020116 . . . . . . . . 0.3270 Name\x3d99.329527 0 +6 123702587 TRDN G A 1 0.00199681 0.0095 . . . . . . . . . intronic . 0.0018057 . . . . . . . . 0.0026 Name\x3d98.331548 1 +6 123702642 TRDN T G 32 0.120807 0.1304 . . . . . . . . . intronic . 0.124635 . . . . . . . . . Name\x3d97.262537 0 +6 123703168 TRDN C T 32 0.120807 0.1298 . . . . . . . . . intronic . 0.123982 . . . . . . . . . . -2 +6 123714764 TRDN C T 13 0.0163738 0.0476 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0916 . intronic . 0.0323023 . . Name\x3dOREG1637760|N/A|FOXA1|PAZAR,OREG1579122|N/A|FOXA1|PAZAR . . . 0.4824 0.506 0.0483 Name\x3d99.795319 -2 +6 123714938 TRDN C T 1 0.00399361 . . . . . . . . . . intronic . 0.0013447 . . Name\x3dOREG1637760|N/A|FOXA1|PAZAR,OREG1579122|N/A|FOXA1|PAZAR . . . . . . . 1 +6 123818365 TRDN T C 1 0.000199681 . 0.195 MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Uncertain_significance . . . . nonsynonymous_SNV exonic . 2.59e-05 T . . . B D . . . Name\x3d99.874300 3 +6 123833457 TRDN G C 178 0.843251 0.8670 -0.289 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign . . . 0.8257 nonsynonymous_SNV exonic . 0.793101 T . . . B T . . 0.8615 Name\x3d99.390978 -3.5 +6 123837214 TRDN C A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +6 123837416 TRDN G A 2 0.00279553 6.492e-05 . . . . . . . . . intronic . 0.00073 . . . . . . . . . . 0 +6 123851590 TRDN G A 133 0.497804 0.6421 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +6 123851610 TRDN G A 133 0.497404 0.6413 . . . . . . . 0.5937 . intronic . 0.0002458 . . . . . . . . . . -2 +6 123851757 TRDN A C 1 0.000199681 . . . . . . . . 0.0003 . intronic . 1.29e-05 . . . . . . . . . . 2 +6 123868506 TRDN C T 4 0.00279553 0.0138 4.510 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign . . . 0.0102 nonsynonymous_SNV exonic . 0.0042043 T . . . P D . . 0.0099 Name\x3d99.440747 -5 +6 123869607 TRDN G C 114 0.392971 0.5248 -0.436 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign . . . 0.5689 nonsynonymous_SNV exonic . 0.421152 T . . . B T . . 0.5375 Name\x3d99.257118 -3.5 +6 123869615 TRDN G A 1 0.000399361 0.0004 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 0.0003 synonymous_SNV exonic . 0.0001035 . . . . . . . . 0.0002 Name\x3d99.293686 7 +6 123869769 TRDN TAA T 123 0.500599 0.5587 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign . . . 0.5416 . intronic . 0.0001423 . . . . . . . . . Name\x3d97.931712,99.435288 -5 +6 123892001 TRDN G A 78 0.495807 0.3950 . . . . . . . . . intronic . 0.0840998 . . . . . . . . . . -2 +6 123892044 TRDN A G 23 0.0467252 0.0785 . . . . . . . 0.0948 . intronic . 0.068285 . . . . . . . . 0.0938 Name\x3d95.413899 -1 +6 123892337 TRDN G A 90 0.24361 0.3335 . . . . . . . . . intronic . 0.0606331 . . . . . . . . . Name\x3d95.708252 -1 +6 123957876 TRDN C T 1 0.000199681 6.49e-05 . . . . Name\x3dENSR00000803992|Promoter . . 9.247e-05 . intronic . 8.41e-05 . . . . . . . . . Name\x3d99.261590 4 +6 129371106 LAMA2 C T 40 0.0706869 0.1153 . 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 . . . 0.1245 synonymous_SNV exonic . 0.0988668 . . . . . . . . 0.1164 Name\x3d99.611828 -1 +6 129381026 LAMA2 C A 208 0.936701 0.9718 . 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 . . . 0.9708 synonymous_SNV exonic . 0.948435 . . . . . . . . 0.9699 Name\x3d99.531499 -1 +6 129419454 LAMA2 C T 1 0.000399361 6.481e-05 4.755 MedGen:CN117977 Laminin_alpha_2-related_dystrophy Uncertain_significance . . . 9.201e-05 nonsynonymous_SNV exonic . 9.06e-05 T . . . D D . . . Name\x3d99.118695 6 +6 129419609 LAMA2 G A 1 0.00159744 0.0053 . . . . . . . 0.0044 . intronic . 0.0031242 . . . . . . . . 0.0066 Name\x3d98.491023 1 +6 129465020 LAMA2 G A 34 0.247404 0.1892 . MedGen:CN169374 not_specified Benign . . . 0.2016 . intronic . 0.193853 . . . . . . . . 0.1932 Name\x3d97.177285 -1 +6 129468288 LAMA2 A T 34 0.352236 0.1915 . . . . Name\x3dENSR00000804985|Enhancer . . . . intronic . 0.0452129 . . . . . . . . . Name\x3d99.371025 0 +6 129486657 LAMA2 C A 1 0.00219649 0.0092 . . . . . . . . . intronic . 0.0014877 . . . . . . . . . Name\x3d96.748327 1 +6 129486815 LAMA2 G A 1 0.000199681 . 0.655 . . . . . . 0.0001 nonsynonymous_SNV exonic . 5.82e-05 T . . . B T . . . Name\x3d99.346840 4.5 +6 129511373 LAMA2 T C 4 0.0565096 0.0089 . MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0136 synonymous_SNV exonic . 0.0302325 . . . . . . . . 0.0112 Name\x3d99.329573 -1 +6 129513850 LAMA2 T A 1 0.00159744 0.0053 5.154 MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|not_provided Benign/Likely_benign . . . 0.0044 nonsynonymous_SNV exonic . 0.0030401 T . . . D D . . 0.0070 Name\x3d99.459134 4 +6 129514008 LAMA2 C T 1 0.000199681 0.0045 . MedGen:CN239326|MedGen:CN517202 Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided Uncertain_significance . . . 0.0011 . intronic . 0.0005627 . . . . . . . . 0.0005 Name\x3d98.738623 1 +6 129571330 LAMA2 G A 27 0.270966 0.1374 -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 . . . 0.1350 nonsynonymous_SNV exonic . 0.177811 T . . . B T . . 0.14 Name\x3d99.000114 0.5 +6 129601231 LAMA2 C T 1 0.00319489 0.0075 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 . . . 0.0066 nonsynonymous_SNV exonic . 0.0048318 T . . . B D . . 0.0064 Name\x3d99.479070 4 +6 129609026 LAMA2 C T 1 0.000199681 . 6.647 . . . . . . . nonsynonymous_SNV exonic . 1.29e-05 T . . . P D . . . Name\x3d99.670692 6 +6 129609237 LAMA2 T C 1 0.0341454 0.0007 . MedGen:CN169374 not_specified Benign . . . 0.0006 . intronic . 0.0104397 . . . . . . . . 0.0008 Name\x3d99.569901 -1 +6 129612765 LAMA2 G T 1 0.0463259 0.0008 2.558 MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0008 nonsynonymous_SNV exonic . 0.0136674 T . . . B T . . 0.0010 Name\x3d99.252063 0.5 +6 129612808 LAMA2 A G 48 0.313898 0.2221 . 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 . . . 0.2248 synonymous_SNV exonic . 0.260501 . . . . . . . . 0.2272 Name\x3d98.828695 -1 +6 129618791 LAMA2 T C 4 0.00359425 0.0154 . MedGen:CN169374 not_specified Likely_benign . . . 0.0176 . intronic . 0.0114682 . . . . . . . . 0.0156 Name\x3d95.776306 -1 +6 129618905 LAMA2 G A 1 0.000199681 0.0003 6.101 MedGen:CN169374 not_specified Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 8.41e-05 T . . . D T . . . Name\x3d99.389640 6 +6 129619059 LAMA2 G A 13 0.182508 0.0770 . MedGen:CN169374 not_specified Benign . . . 0.0835 . intronic . 0.117004 . . . . . . . . 0.0769 . -2 +6 129621840 LAMA2 T A 1 0.000199681 . . . . . . . . 1.841e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 +6 129622055 LAMA2 A G 111 0.303714 0.4491 . MedGen:CN169374 not_specified Benign . . . 0.4659 . intronic . 0.393805 . . . . . . . . 0.4524 . -2 +6 129633970 LAMA2 TTG T 14 0.170128 0.0771 . MedGen:CN169374 not_specified Benign Name\x3dENSR00001116158|Enhancer . . 0.0828 . intronic . 0.0039715 . . Name\x3dOREG1899960|N/A|STAT1|PAZAR . . . . . 0.0774 Name\x3d96.404549 1 +6 129634255 LAMA2 G A 20 0.355232 0.1175 . 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 Name\x3dENSR00001116158|Enhancer . . 0.1212 . intronic . 0.205748 . . Name\x3dOREG1899960|N/A|STAT1|PAZAR . . . . . 0.1241 Name\x3d96.711048 1 +6 129635800 LAMA2 G A 7 0.120008 0.0396 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 . . . 0.0408 nonsynonymous_SNV exonic . 0.066047 T . . . B T 0.0857 0.288 0.0469 Name\x3d99.447159 0.5 +6 129636606 LAMA2 T G 1 0.0081869 0.0054 . MedGen:CN169374|MedGen:CN239326 not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Conflicting_interpretations_of_pathogenicity . . . 0.0091 . intronic . 0.0085381 . . . . . . . . 0.005 Name\x3d96.614197 1 +6 129637037 LAMA2 G A 1 0.000199681 . 4.218 . . . . . . 3.681e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . B T . . . Name\x3d99.708442 4.5 +6 129663463 LAMA2 ACTT A 6 0.00579073 0.0147 . MedGen:CN517202 not_provided Uncertain_significance . . . 0.0122 . intronic . 0.0002329 . . . . . . . . 0.0143 Name\x3d96.910643 -1 +6 129670438 LAMA2 T A 1 0.00279553 0.0080 . MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|not_provided Benign/Likely_benign . . . 0.0084 . intronic . 0.0059249 . . . . . . 0.8827 0.572 0.0098 Name\x3d99.367174 1.5 +6 129670476 LAMA2 C T 1 0.00299521 0.0078 . MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign . . . 0.0082 synonymous_SNV exonic . 0.0056856 . . . . . . . . 0.0095 Name\x3d99.368198 1 +6 129670493 LAMA2 C T 3 0.00279553 0.0027 5.746 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN257926,OMIM:618138|MedGen:CN517202 Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|MUSCULAR_DYSTROPHY,_LIMB-GIRDLE,_AUTOSOMAL_RECESSIVE_23|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0052 nonsynonymous_SNV exonic . 0.0032018 T . . . D D . . 0.0044 Name\x3d99.554363 8 +6 129670548 LAMA2 C T 13 0.0970447 0.0545 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374 Merosin_deficient_congenital_muscular_dystrophy|not_specified Benign . . . 0.0639 . intronic . 0.0816872 . . . . . . . . 0.0613 . -2 +6 129674561 LAMA2 TC T 13 0.116813 0.0526 . . . . Name\x3dENSR00001116164|Enhancer . . . . intronic . 0.0188259 . . . . . . . . . Name\x3d99.094876 0 +6 129687396 LAMA2 G A 4 0.0101837 0.0282 2.753 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign . . . 0.0280 nonsynonymous_SNV exonic . 0.020362 T . . . B T . . 0.0330 Name\x3d99.820159 0.5 +6 129691132 LAMA2 C G 13 0.0966454 0.0543 . 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 . . . 0.0637 synonymous_SNV exonic . 0.0823793 . . . . . . . . 0.0615 Name\x3d99.647413 -1 +6 129704460 LAMA2 C G 1 0.000399361 6.483e-05 . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d99.257030 3 +6 129722389 LAMA2 A G 99 0.544529 0.4537 . 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 . . . 0.4667 synonymous_SNV exonic . 0.489541 . . . . . . . . 0.4653 Name\x3d99.315909 -1 +6 129722425 LAMA2 G A 99 0.543331 0.4510 . 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 . . . 0.4642 synonymous_SNV exonic . 0.487141 . . . . . . . . 0.4641 Name\x3d99.426074 -1 +6 129722453 LAMA2 C A 1 0.00499201 0.0160 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 . 0.0113582 T . . . B T . . 0.0171 Name\x3d99.446649 0.5 +6 129722481 LAMA2 T G 1 0.000199681 0.0002 3.035 MedGen:CN117977|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|Congenital_Muscular_Dystrophy,_LAMA2-related Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0001488 T . . . P D . . 0.0005 Name\x3d99.459482 1 +6 129724942 LAMA2 T A 96 0.539936 0.4418 . MedGen:CN169374 not_specified Benign . . . 0.4540 . intronic . 0.418009 . . . . . . . . 0.1772 Name\x3d97.015877 -1 +6 129724944 LAMA2 C T 96 0.540735 0.4418 . . . . . . . 0.4542 . intronic . 0.417866 . . . . . . . . 0.0005 Name\x3d97.015877 -1 +6 129724945 LAMA2 T G 96 0.540735 0.4417 . . . . . . . 0.4541 . intronic . 0.417866 . . . . . . . . 0.0049 Name\x3d97.015877 -1 +6 129748836 LAMA2 G A 3 0.00359425 0.0100 . . . . . . . . . intronic . 0.0014359 . . . . . . . . . . 4 +6 129749070 LAMA2 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d95.839996 3 +6 129759802 LAMA2 C A 1 0.000199681 . 0.259 . . . . . . 5.545e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . B T . . 0.0001 Name\x3d99.364494 4.5 +6 129762036 LAMA2 A G 3 0.00119808 0.0010 -0.014 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0012 nonsynonymous_SNV exonic . 0.0008279 T . . . B T . . 0.0014 Name\x3d99.488683 6.5 +6 129762062 LAMA2 G A 1 0.000399361 . 2.360 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . P T . . . Name\x3d99.541478 4.5 +6 129762112 LAMA2 G A 30 0.182508 0.1696 . MedGen:CN169374|MedGen:CN239326 not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.1516 synonymous_SNV exonic . 0.1658 . . . . . . . . 0.1457 Name\x3d99.406276 -1 +6 129763248 LAMA2 G T 1 0.000199681 6.491e-05 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +6 129774077 LAMA2 C T 2 0.000399361 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . Name\x3d98.863054 3 +6 129775470 LAMA2 T C 28 0.172324 0.1348 . MedGen:CN169374 not_specified Benign . . . 0.1458 . intronic . 0.142049 . . . . . . . . 0.1206 Name\x3d99.001769 -1 +6 129781525 LAMA2 A T 3 0.00658946 0.0155 . . . . Name\x3dENSR00000805051|Enhancer . . . . intronic . 0.002044 . . . . . . . . . Name\x3d97.174418 0 +6 129785391 LAMA2 T C 123 0.660942 0.5723 . MedGen:CN169374 not_specified Benign . . . 0.5780 . intronic . 0.596532 . . . . . . . . 0.5763 . -2 +6 129796620 LAMA2 C T 97 0.408347 0.3865 . . . . Name\x3dENSR00000805056|Enhancer . . . . intronic . 0.0780326 . . . . . . . . 0.4104 Name\x3d99.104293 0 +6 129807629 LAMA2 C T 160 0.583866 0.7162 7.378 MedGen:CN169374 not_specified Benign Name\x3dENSR00000805058|Enhancer . . 0.7133 nonsynonymous_SNV exonic . 0.664092 D . Name\x3dOREG0456106|N/A|CEBPB|JASPAR . D T . . 0.7265 Name\x3d99.660625 4 +6 129807697 LAMA2 G A 1 0.000199681 . 5.529 . . . Name\x3dENSR00000805058|Enhancer . . 3.684e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . D D . . 0.0001 Name\x3d99.569754 7 +6 129807699 LAMA2 G C 160 0.584265 0.7163 . 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 Name\x3dENSR00000805058|Enhancer . . 0.7134 synonymous_SNV exonic . 0.665295 . . . . . . . . 0.7266 Name\x3d99.569754 0 +6 129807714 LAMA2 G A 46 0.403754 0.2601 . 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 Name\x3dENSR00000805058|Enhancer . . 0.2617 synonymous_SNV exonic . 0.302066 . . . . . . . . 0.2488 Name\x3d99.554154 0 +6 129813043 LAMA2 C T 1 0.000199681 . . . . . . . . 4.557e-05 . intronic . 3.88e-05 . . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . . . 0.0028 0.176 . Name\x3d99.338910 4 +6 129813053 LAMA2 A G 10 0.111621 0.0675 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 . . . 0.0787 nonsynonymous_SNV exonic . 0.0845849 T . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . B D . . 0.0630 Name\x3d99.300311 0 +6 129813175 LAMA2 T C 1 0.0185703 0.0123 . 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 . 0.0131628 . . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . . . . . 0.0130 Name\x3d99.421703 0 +6 129813288 LAMA2 A G 1 0.000399361 . . . . . . . . . . intronic . 7.68e-05 . . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.370312 4 +6 129813429 LAMA2 T TA 5 0.0129792 0.0264 . . . . . . . 0.0207 . intronic . 0.0007762 . . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . . . . . 0.0208 Name\x3d95.737858 0 +6 129813697 LAMA2 G C 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . Name\x3dOREG1269125|N/A|SMARCA4|PAZAR . . . . . . Name\x3d95.062581 4 +6 129823857 LAMA2 C T 1 0.000199681 0.0003 . MedGen:CN117977 Laminin_alpha_2-related_dystrophy Likely_benign . . . 0.0003 synonymous_SNV exonic . 0.0002135 . . Name\x3dOREG1269126|N/A|SMARCA4|PAZAR . . . . . 0.0003 Name\x3d99.688857 4 +6 129826335 LAMA2 T C 1 0.00359425 0.0121 . MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|not_provided Benign/Likely_benign . . . 0.0135 . intronic . 0.0090167 . . Name\x3dOREG1269127|N/A|SMARCA4|PAZAR . . . 0.0004 0.018 0.0127 Name\x3d98.454078 0 +6 129826383 LAMA2 T C 1 0.000798722 0.0005 . 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 . . . 0.0012 synonymous_SNV exonic . 0.0006598 . . Name\x3dOREG1269127|N/A|SMARCA4|PAZAR . . . . . 0.0006 Name\x3d99.487326 2 +6 129826488 LAMA2 A G 1 0.0179712 0.0001 . MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign . . . 0.0001 synonymous_SNV exonic . 0.0047089 . . Name\x3dOREG1269127|N/A|SMARCA4|PAZAR . . . . . 0.0005 Name\x3d99.636526 0 +6 129835530 LAMA2 G C 1 0.000399361 0.0001 3.224 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0001164 T . . . D D . . 0.0001 Name\x3d99.675911 6 +6 129835690 LAMA2 C A 1 0.000199681 0.0003 2.437 MedGen:CN117977 Laminin_alpha_2-related_dystrophy Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 0.0001294 T . . . D T . . 0.0001 Name\x3d99.494444 3 +6 129837320 LAMA2 C A 7 0.0091853 0.0333 . MedGen:CN169374 not_specified Benign . . . 0.0351 . intronic . 0.0241135 . . . . . . . . 0.0415 Name\x3d96.508025 -1 +6 129837549 LAMA2 A C 1 0.0509185 0.0048 . MedGen:CN239326 Congenital_Muscular_Dystrophy,_LAMA2-related Likely_benign . . . . . UTR3 . 0.0034346 . . . . . . . . . Name\x3d98.609228 -1 +6 133596051 EYA4 A G 1 0.000599042 . . . . . . . . . . intronic . 0.0001153 . . . . . . . . . Name\x3d98.960786 3 +6 133703698 EYA4 T C 3 0.0922524 0.0015 . . . . . . . . . intronic . 0.0045342 . . . . . . . . . Name\x3d98.594508 1 +6 133777690 EYA4 G A 2 0.000399361 6.482e-05 . . . . Name\x3dENSR00000805937|Enhancer . Name\x3dMIMAT0004490|hsa-miR-19a-5p|Experimental 5.521e-05 . intronic . 5.17e-05 . . . . . . . . . Name\x3d99.875193 7 +6 133777842 EYA4 C G 1 0.000199681 . . . . . Name\x3dENSR00000805937|Enhancer . . . . intronic . 0.0001153 . . . . . . . . . Name\x3d99.147019 6 +6 133782375 EYA4 T A 10 0.201278 0.0598 . . . . . . . . . intronic . 0.0211705 . . . . . . . . 0.0669 Name\x3d96.534516 1 +6 133789728 EYA4 G A 73 0.409545 0.3118 5.411 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Benign/Likely_benign . . . 0.3193 nonsynonymous_SNV exonic . 0.339142 T . Name\x3dOREG1704507|N/A|GATA3|PAZAR . D T . . 0.3128 Name\x3d99.952146 3 +6 133789737 EYA4 C A 1 0.000199681 . 6.665 . . . . . . 9.213e-05 nonsynonymous_SNV exonic . 3.88e-05 D . Name\x3dOREG1704507|N/A|GATA3|PAZAR . D D . . 0.0001 Name\x3d99.942966 12 +6 133802542 EYA4 G A 23 0.0283546 0.0793 . . . . . . . . . intronic . 0.0134022 . . . . . . . . . Name\x3d99.702670 1 +6 133802711 EYA4 T C 1 0.000199681 . 4.879 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . B D . . . Name\x3d99.950244 8 +6 133827354 TARID A G 136 0.722244 0.5630 . . . . . . . 0.5657 . ncRNA_exonic . 0.610561 . . . . . . . . 0.5607 Name\x3d98.146255 -1 +6 133833915 EYA4 A G 1 0.000199681 0.0003 . MedGen:CN239310|MedGen:CN239435 Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Uncertain_significance . . . 3.68e-05 synonymous_SNV exonic . 2.59e-05 . . . . . . 0.0009 0.006 0.0001 Name\x3d99.959727 5 +6 133836430 TARID G A 6 0.00539137 0.0146 . . . . . . . 0.0161 . ncRNA_intronic . 0.0122961 . . . . . . . . 0.0164 Name\x3d95.295710 -1 +6 133844137 TARID C A 28 0.154752 0.1414 . . . . . . . . . ncRNA_intronic . 0.0290553 . . . . . . . . . Name\x3d98.454046 1 +6 133844339 TARID G C 1 0.0373403 0.0006 . . . . . . . 0.0004 . ncRNA_intronic . 0.0114099 . . . . . . . . 0.0012 Name\x3d99.220735 -1 +6 133849789 TARID A G 129 0.770367 0.5461 . . . . . . . . . ncRNA_intronic rs3822939|Estimated-glomerular-filtration-rate|0.0025|5E-23|PMID:31152163 0.117159 . . . . . . . . . Name\x3d97.737781 -1 +6 133849868 EYA4 C T 4 0.0081869 0.0108 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Dilated_cardiomyopathy_1J|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0146 synonymous_SNV exonic . 0.0116751 . . . . . . . . 0.0128 Name\x3d99.960392 -7 +6 133849966 TARID C T 95 0.471046 0.3949 . MedGen:CN239310|MedGen:CN239435 Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Likely_benign . . . 0.3749 . ncRNA_intronic . 0.0021022 . . . . . . . . 0.3865 Name\x3d99.895395 -3 +6 152443744 SYNE1 G T 25 0.076877 0.1616 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 . . . 0.1532 nonsynonymous_SNV exonic . 0.117728 T . . . D D . . 0.1398 Name\x3d99.824604 4 +6 152443761 SYNE1 C T 6 0.0648962 0.0444 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 . . . 0.0392 nonsynonymous_SNV exonic . 0.0480007 T . . . B T . . 0.0335 Name\x3d99.664822 2.5 +6 152453291 SYNE1 G A 15 0.0257588 0.0775 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 . . . 0.0732 nonsynonymous_SNV exonic . 0.0534857 T . . . B T . . 0.0745 Name\x3d99.069594 2.5 +6 152456437 SYNE1 A C 1 0.00119808 . . . . . . . . . . intronic . 0.0002305 . . . . . . . . . . 2 +6 152456438 SYNE1 A C 2 0.00599042 0.0136 . . . . . . . . . intronic . 0.0026326 . . . . . . . . . . 0 +6 152457897 SYNE1 G A 1 0.000199681 . . MedGen:CN517202 not_provided Uncertain_significance . . . 3.683e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.383771 5 +6 152461061 SYNE1 G A 99 0.444489 0.3635 . MedGen:CN169374 not_specified Benign . . . 0.3698 . intronic . 0.392032 . . . . . . . . 0.3941 Name\x3d99.006134 1 +6 152461162 SYNE1 C T 1 0.000798722 0.0006 4.590 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0007 nonsynonymous_SNV exonic . 0.0006145 T . . . P T . . 0.0013 Name\x3d99.483013 4.5 +6 152462480 SYNE1 C A 6 0.00559105 0.0059 . MedGen:CN169374 not_specified Benign . . . 0.0092 . intronic . 0.0074061 . . . . . . . . 0.0097 Name\x3d97.234411 11 +6 152462524 SYNE1 C T 1 0.0303514 0.0001 . . . . . . . . . intronic . 0.0083372 . . . . . . . . . . 0 +6 152464839 SYNE1 A G 123 0.689696 0.5460 . 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 . . . 0.5468 synonymous_SNV exonic . 0.602735 . . . . . . . . 0.5564 Name\x3d99.051753 1 +6 152466578 SYNE1 A C 2 0.0567093 0.0087 . MedGen:CN169374 not_specified Likely_benign . . . 0.0064 . intronic . 0.0285766 . . . . . . . . 0.0051 Name\x3d98.368461 1 +6 152466582 SYNE1 A G 79 0.381589 0.3173 . MedGen:CN169374 not_specified Benign . . . 0.3207 . intronic . 0.0015459 . . . . . . . . 0.3359 Name\x3d98.298421 1 +6 152466674 SYNE1 T C 79 0.366214 0.3136 . 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 . . . 0.3142 synonymous_SNV exonic . 0.342117 . . . . . . . . 0.3301 Name\x3d99.036820 1 +6 152469188 SYNE1 C G 81 0.399361 0.3186 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 . . . 0.3194 nonsynonymous_SNV exonic . 0.355202 T . . . P T . . 0.3373 Name\x3d99.285969 2.5 +6 152469204 SYNE1 G A 2 0.00219649 0.0093 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|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 . . Name\x3dMIMAT0000096|hsa-miR-98-5p|Experimental,MIMAT0000063|hsa-let-7b-5p|Experimental,MIMAT0000066|hsa-let-7e-5p|Experimental,MIMAT0000064|hsa-let-7c-5p|Experimental,MIMAT0000067|hsa-let-7f-5p|Experimental,MIMAT0000062|hsa-let-7a-5p|Experimental,MIMAT0000415|hsa-let-7i-5p|Experimental,MIMAT0000414|hsa-let-7g-5p|Experimental 0.0075 nonsynonymous_SNV exonic . 0.0050646 T . . . P D . . 0.0056 Name\x3d98.885134 4 +6 152469331 SYNE1 C T 66 0.339457 0.2805 . 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 . . . 0.2729 synonymous_SNV exonic . 0.309795 . . . . . . . . 0.2944 Name\x3d99.461894 1 +6 152469354 SYNE1 C T 1 0.000199681 6.487e-05 6.962 MedGen:CN517202 not_provided Uncertain_significance . . . 5.538e-05 nonsynonymous_SNV exonic . 4.53e-05 T . . . D D . . . Name\x3d99.622014 8 +6 152469433 SYNE1 G C 1 0.000199681 0.0005 -1.526 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0011 nonsynonymous_SNV exonic . 0.0006598 T . . . B T . . 0.0006 Name\x3d99.429159 4.5 +6 152470752 SYNE1 C A 22 0.115615 0.0438 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/Likely_benign . . . 0.0560 nonsynonymous_SNV exonic . 0.0668038 T . . . B T . . 0.0548 Name\x3d99.193134 2.5 +6 152472631 MIR3163 A G 13 0.024361 0.0348 . . . . . . . . . ncRNA_intronic . 0.0068304 . . . . . . . . . Name\x3d97.811193 -1 +6 152472660 MIR3163 T A 14 0.0317492 0.0379 . MedGen:CN169374 not_specified Benign . . . 0.0476 . ncRNA_intronic . 0.0381302 . . . . . . . . 0.0434 Name\x3d96.961588 -1 +6 152473136 SYNE1 G T 1 0.000199681 . 5.447 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . D D . . . Name\x3d99.725408 8 +6 152473181 SYNE1 T C 14 0.0365415 0.0381 . 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 . . . 0.0477 synonymous_SNV exonic . 0.039799 . . . . . . . . 0.0441 Name\x3d99.283014 1 +6 152476985 MIR3163 T G 5 0.057508 . . . . . . . . . . ncRNA_intronic . 0.011065 . . . . . . . . . . -2 +6 152497500 MIR3163 C T 12 0.0225639 0.0574 . MedGen:CN169374 not_specified Benign . . . 0.0589 . ncRNA_intronic . 0.039896 . . . . . . . . 0.0597 Name\x3d97.696224 -1 +6 152501313 SYNE1 A G 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . . . . . . . . Name\x3d99.103215 5 +6 152510429 SYNE1 G A 1 0.00119808 0.0016 . 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 . . . 0.0022 synonymous_SNV exonic . 0.0015588 . . . . . . . . 0.0023 Name\x3d98.940664 3 +6 152510573 MIR3163 G A 1 0.0680911 0.0084 . . . . . . . 0.0104 . ncRNA_intronic . 0.0321406 . . . . . . . . 0.0085 . -2 +6 152522926 MIR3163 G A 47 0.134585 0.1764 . MedGen:CN169374 not_specified Benign . . . 0.1720 . ncRNA_intronic . 0.14939 . . . . . . . . 0.1767 Name\x3d98.031737 -1 +6 152523143 MIR3163 G A 141 0.645567 0.5840 . . . . . . . . . ncRNA_intronic . 0.0003842 . . . . . . . . . Name\x3d98.201005 -1 +6 152529122 SYNE1 G A 3 0.00339457 0.0190 . 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 . . . 0.0167 synonymous_SNV exonic . 0.0117851 . . Name\x3dOREG1636788|N/A|FOXA1|PAZAR,OREG1578107|N/A|FOXA1|PAZAR . . . . . 0.0177 Name\x3d99.448078 2 +6 152529260 SYNE1 G A 29 0.155152 0.1217 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided Benign . . . 0.1319 synonymous_SNV exonic . 0.140451 . . Name\x3dOREG1285696|N/A|CEBPA|PAZAR,OREG1636788|N/A|FOXA1|PAZAR,OREG1578107|N/A|FOXA1|PAZAR . . . . . 0.1341 Name\x3d99.640757 2 +6 152532702 SYNE1 T C 4 0.00459265 0.0143 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 . . . 0.0212 nonsynonymous_SNV exonic . 0.0133439 T . Name\x3dOREG0929036|N/A|MAFK|JASPAR . D T . . 0.0171 Name\x3d99.296241 5 +6 152534768 SYNE1 C T 5 0.0205671 0.0273 . 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 . . . 0.0334 synonymous_SNV exonic . 0.0249609 . . . . . . . . 0.0271 Name\x3d99.136858 1 +6 152534789 SYNE1 T C 6 0.0135783 0.0423 . 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 synonymous_SNV exonic . 0.0245275 . . . . . . . . 0.0302 Name\x3d99.091516 1 +6 152534946 MIR3163 T A 214 0.997005 0.9893 . . . . . . . 0.9904 . ncRNA_intronic . 0.0099934 . . . . . . . . 0.9890 . -2 +6 152534947 MIR3163 T A 83 0.307508 0.4550 . . . . . . . . . ncRNA_intronic . 0.0625154 . . . . . . . . . . -2 +6 152539350 MIR3163 C G 33 0.279153 0.2272 . MedGen:CN169374 not_specified Benign . . . 0.2197 . ncRNA_intronic . 0.244719 . . . . . . . . 0.2219 . -2 +6 152539515 SYNE1 G A 1 0.000599042 0.0009 . 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 . . . 0.0012 synonymous_SNV exonic . 0.0009056 . . . . . . . . 0.0019 Name\x3d98.901909 3 +6 152539572 MIR3163 TA TAA,T 1 0.404952 0.4481 . . . . . . . 0.4534 . ncRNA_intronic . 0.0046183 . . . . . . . . . Name\x3d95.662064 -1 +6 152540230 SYNE1 C T 1 0.000199681 0.0001 3.652 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 9.202e-05 nonsynonymous_SNV exonic . 0.0001035 T . Name\x3dOREG1636790|N/A|FOXA1|PAZAR,OREG1578108|N/A|FOXA1|PAZAR,OREG1172552|N/A|TFAP2C|PAZAR . D T . . 0.0001 Name\x3d98.478390 6 +6 152540278 SYNE1 A C 211 0.995607 0.9889 -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 . 0.982057 T . Name\x3dOREG1172552|N/A|TFAP2C|PAZAR,OREG1636790|N/A|FOXA1|PAZAR,OREG1578108|N/A|FOXA1|PAZAR . B T . . 0.9901 Name\x3d98.536829 3.5 +6 152540357 MIR3163 T C 25 0.0696885 0.0810 . . . . . . . 0.0899 . ncRNA_intronic . 0.0882848 . . Name\x3dOREG1172552|N/A|TFAP2C|PAZAR,OREG1578108|N/A|FOXA1|PAZAR,OREG1636790|N/A|FOXA1|PAZAR . . . . . 0.0913 . -1 +6 152542234 MIR3163 G T 62 0.389377 0.3161 . . . . . . . . . ncRNA_intronic . 0.066668 . . . . . . . . . Name\x3d95.176582 -1 +6 152542548 MIR3163 A G 34 0.337859 0.2291 . 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 . . . 0.2225 . ncRNA_intronic . 0.271601 . . . . . . . . 0.2248 Name\x3d96.735379 -1 +6 152545600 MIR3163 G A 5 0.00758786 0.0261 . . . . . . . 0.0258 . ncRNA_intronic . 0.0190101 . . . . . . . . 0.0241 Name\x3d95.009272 -1 +6 152545865 MIR3163 T C 43 0.124002 0.1956 . . . . . . . . . ncRNA_intronic . 0.0030352 . . . . . . . . . . -2 +6 152555057 SYNE1 T A 3 0.00978435 0.0255 . 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 . . . 0.0267 synonymous_SNV exonic . 0.0200256 . . . . . . . . 0.0259 Name\x3d99.595730 1 +6 152555112 SYNE1 C T 35 0.208866 0.2308 . 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 . . . 0.2230 . intronic . 0.229318 . . . . . . . . 0.2167 Name\x3d97.236054 1 +6 152555762 SYNE1 C T 1 0.000599042 0.0010 . . . . . . . 0.0009 . intronic . 0.0004981 . . . . . . . . 0.0005 . 2 +6 152557178 SYNE1 G C 1 0.000798722 0.0041 . . . . . . . . . intronic . 0.0004204 . . . . . . . . . . 2 +6 152557220 SYNE1 T C 1 0.00239617 0.0098 . . . . . . . 0.0087 . intronic . 0.0061189 . . . . . . . . 0.0098 Name\x3d96.952310 3 +6 152558111 SYNE1 T TA 35 0.210264 0.2302 . MedGen:CN169374 not_specified Likely_benign . . . 0.2218 . intronic . 0.0070568 . . . . . . . . 0.2170 Name\x3d96.440658 1 +6 152563312 SYNE1 T C 4 0.00519169 0.0065 . . . . . . . . . intronic . 0.001009 . . . . . . . . . . 6 +6 152565669 SYNE1 C T 2 0.00439297 0.0005 . 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 . . . 0.0008 . intronic . 0.0038745 . . . . . . . 0.056 0.0007 Name\x3d97.344315 3 +6 152570274 SYNE1 A G 19 0.0607029 0.0688 . . . . . . . 0.0780 . intronic rs17215781|Heel-bone-mineral-density|0.029709|9E-14|PMID:30048462 0.077554 . . . . . . . . 0.0780 Name\x3d97.694021 1 +6 152570415 SYNE1 G A 109 0.680711 0.6467 . MedGen:CN169374 not_specified Benign . . . 0.6227 . intronic . 0.639248 . . . . . . . . 0.6098 Name\x3d97.830414 1 +6 152577752 SYNE1 T C 9 0.0764776 0.0502 . MedGen:CN169374 not_specified Benign . . . 0.0625 . intronic . 0.067677 . . . . . . . . 0.0598 . 0 +6 152589378 SYNE1 A C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d98.270465 5 +6 152590434 SYNE1 A G 1 0.000798722 0.0023 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Likely_benign . . . 0.0019 . intronic . 0.0012354 . . . . . . . . 0.0015 Name\x3d99.222423 3 +6 152599173 SYNE1 C T 2 0.00439297 0.0075 . . . . Name\x3dENSR00001118515|TF_binding_site Name\x3dTEAD4::MAX|ENSPFM0566|ENSM00205113205|8.40808342725 . 0.0076 . intronic . 0.0062224 . . Name\x3dOREG1711525|N/A|HNF4A|PAZAR,OREG1736173|N/A|HNF4A|PAZAR . . . . . 0.0040 . 5 +6 152603139 SYNE1 T C 11 0.0722843 0.0627 . MedGen:CN169374 not_specified Benign . . . 0.0655 . intronic . 0.0665774 . . . . . . . . 0.0645 . 0 +6 152605242 SYNE1 C T 1 0.000199681 6.483e-05 . . . . . . . 3.681e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.309375 5 +6 152614766 SYNE1 G C 1 0.000199681 . 1.546 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d99.122377 6.5 +6 152615042 SYNE1 G T 5 0.0473243 0.0558 . . . . . . . . . intronic . 0.0104915 . . . . . . . . . Name\x3d97.819075 1 +6 152615200 SYNE1 G A 41 0.147764 0.1926 . 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 . . . 0.1971 synonymous_SNV exonic . 0.184098 . . . . . . . . 0.1917 Name\x3d98.860939 1 +6 152621818 SYNE1 G A 2 0.000399361 0.0010 . MedGen:CN517202 not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000205405|Promoter . . 0.0005 synonymous_SNV exonic . 0.0002911 . . . . . . . . 0.0010 Name\x3d99.576573 4 +6 152621955 SYNE1 A G 2 0.00379393 0.0120 . . . . Name\x3dENSR00000205405|Promoter . . 0.0108 . intronic . 0.0072962 . . . . . . . . 0.0126 Name\x3d99.582865 2 +6 152623056 SYNE1 T A 1 0.000199681 . 5.841 . . . Name\x3dENSR00000205405|Promoter . . 1.845e-05 nonsynonymous_SNV exonic . 1.29e-05 T . Name\x3dOREG1224039|N/A|SMARCA4|PAZAR,OREG1172553|N/A|TFAP2C|PAZAR,OREG1798829|N/A|RBL2|PAZAR,OREG1578113|N/A|FOXA1|PAZAR,OREG1780029|N/A|RBL2|PAZAR . P D . . . Name\x3d99.812403 10 +6 152629586 SYNE1 G A 116 0.457468 0.5540 . MedGen:CN169374 not_specified Benign . . . 0.5308 . intronic . 0.497005 . . . . . . . . 0.5247 Name\x3d95.369334 1 +6 152629617 SYNE1 C T 73 0.304313 0.3331 . 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 . intronic . 0.311484 . . . . . . . . 0.3235 Name\x3d98.166992 1 +6 152629631 SYNE1 C T 2 0.038139 0.0077 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 . . . 0.0074 nonsynonymous_SNV exonic . 0.0184668 T . . . B T . . 0.0071 Name\x3d99.286541 1 +6 152629772 SYNE1 GAA GAAA,GA,G 2 0.014377 0.0131 . 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 . . . 0.0244 . intronic . 0.0002846 . . . . . . . . . Name\x3d96.828777 1 +6 152629815 SYNE1 C T 178 0.884784 0.8188 . . . . . . . 0.8013 . intronic . 0.816995 . . . . . . . . 0.7880 . 0 +6 152630946 SYNE1 C T 25 0.117612 0.0941 . MedGen:CN169374 not_specified Benign . . . 0.1012 . intronic . 0.119481 . . Name\x3dOREG1544750|N/A|ETS1|PAZAR,OREG1934307|N/A|TAL1|PAZAR . . . . . 0.0981 Name\x3d97.219624 2 +6 152631802 SYNE1 C CT 3 0.00678914 0.0101 . . . . . . . 0.0237 . intronic . 0.0004334 . . . . . . . . 0.0168 . 0 +6 152632033 SYNE1 G A 2 0.0443291 0.0317 . MedGen:CN169374 not_specified Benign . . . 0.0290 . intronic . 0.034508 . . . . . . . . 0.0235 . 0 +6 152638192 SYNE1 C T 4 0.00539137 0.0121 . . . . . . . . . intronic . 0.002445 . . . . . . . . . . 0 +6 152639184 SYNE1 C G 8 0.0864617 0.0373 . MedGen:CN169374 not_specified Benign . . . 0.0389 . intronic . 0.0496953 . . . . . . . . 0.0463 Name\x3d96.765294 1 +6 152639350 SYNE1 C T 1 0.000199681 . 6.336 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D D . . . Name\x3d99.530807 8 +6 152640091 SYNE1 C T 1 0.000399361 0.0002 . 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 . . . 0.0004 synonymous_SNV exonic . 0.000304 . . . . . . . . 0.0006 Name\x3d99.216194 3 +6 152640110 SYNE1 G A 5 0.0463259 0.0338 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/Likely_benign . . . 0.0290 nonsynonymous_SNV exonic . 0.0382789 T . . . B T . . 0.0272 Name\x3d99.569769 2.5 +6 152640160 SYNE1 T A 1 0.000199681 . . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy Likely_benign . . . 3.811e-05 . intronic . 3.88e-05 . . . . . . . . . Name\x3d99.206946 5 +6 152642331 SYNE1 T C 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . Name\x3d96.953323 5 +6 152642795 SYNE1 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +6 152643070 SYNE1 C T 9 0.0107827 0.0348 . MedGen:CN169374 not_specified Likely_benign Name\x3dENSR00000809932|Enhancer . . 0.0360 . intronic . 0.0249091 . . . . . . . . 0.0409 . 1 +6 152646279 SYNE1 G C 7 0.0623003 0.0337 . 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 . 0.042548 . . . . . . . . 0.0280 Name\x3d99.365489 1 +6 152647388 SYNE1 A G 1 0.000199681 . . . . . . . . 3.684e-05 . intronic . 2.59e-05 . . . . . . . . . . 4 +6 152647681 SYNE1 A T 156 0.814696 0.7755 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 . . . 0.7583 nonsynonymous_SNV exonic . 0.771588 T . . . B T . . 0.7494 Name\x3d99.445550 2.5 +6 152650812 SYNE1 G A 6 0.0115815 0.0320 . . . . . . . . . intronic . 0.0041979 . . . . . . . . . Name\x3d97.279766 1 +6 152650903 SYNE1 G A 7 0.033746 0.0375 . 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 . . . 0.0384 synonymous_SNV exonic . 0.0345468 . . . . . . . . 0.0436 Name\x3d99.609000 1 +6 152651521 SYNE1 C T 1 0.000199681 . 4.083 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . D T . . . Name\x3d99.423402 5 +6 152651759 SYNE1 C G 18 0.165136 0.0644 . 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 . . . 0.0589 synonymous_SNV exonic . 0.0929289 . . . . . . . . 0.0621 Name\x3d99.093406 1 +6 152652034 SYNE1 A T 156 0.803315 0.7747 -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 . . . 0.7580 nonsynonymous_SNV exonic . 0.768211 T . . . B T . . 0.7490 Name\x3d99.062178 2.5 +6 152652599 SYNE1 G A 7 0.0335463 0.0378 . 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 . 0.035006 . . . . . . . . 0.0437 Name\x3d99.671387 1 +6 152653037 SYNE1 T C 93 0.413139 0.4715 . 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 . . . 0.4703 . intronic . 0.454457 . . . . . . 0.0001 0.002 0.4607 Name\x3d97.542474 1 +6 152658062 SYNE1 C G 2 0.0123802 0.0329 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 . . . 0.0369 nonsynonymous_SNV exonic . 0.0265068 T . . . D D . . 0.0326 Name\x3d99.240878 4 +6 152658141 SYNE1 C A 13 0.0876597 0.0687 2.991 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . 0.0737 nonsynonymous_SNV exonic . 0.0677546 T . . . B D . . . Name\x3d99.051304 1 +6 152658142 SYNE1 T C 154 0.793131 0.7634 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 . . . 0.7482 nonsynonymous_SNV exonic . 0.0054268 T . . . B T . . 0.7194 Name\x3d99.051304 2.5 +6 152658191 SYNE1 T C 155 0.790136 0.7632 . MedGen:CN169374 not_specified Benign . . . 0.7533 . intronic . 0.723891 . . . . . . . . 0.7401 . 0 +6 152658192 SYNE1 G A 1 0.000599042 . . . . . . . . 0.0003 . intronic . 0.0001746 . . . . . . . . . . 2 +6 152658216 SYNE1 A G 82 0.242212 0.4128 . . . . . . . . . intronic . 0.0719008 . . . . . . . . . . 0 +6 152660310 SYNE1 A G 64 0.157149 0.3498 . . . . . . . . . intronic . 0.0587056 . . . . . . . . . . 0 +6 152660451 SYNE1 G A 30 0.0732827 0.1467 . 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 . . . 0.1417 synonymous_SNV exonic . 0.113368 . . . . . . . . 0.1315 Name\x3d99.141639 1 +6 152665261 SYNE1 C A 129 0.545527 0.6082 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 . . . 0.6025 nonsynonymous_SNV exonic . 0.575245 T . Name\x3dOREG1413721|N/A|E2F1|PAZAR . B T . . 0.6178 Name\x3d98.515273 3.5 +6 152665303 SYNE1 C T 1 0.0269569 0.0005 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign . . . 0.0021 synonymous_SNV exonic . 0.0084152 . . Name\x3dOREG1413721|N/A|E2F1|PAZAR . . . . . 0.0019 Name\x3d99.348241 2 +6 152665374 SYNE1 C A 1 0.00938498 0.0005 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign . . . 0.0020 . intronic . 0.0029495 . . . . . . . 0.004 0.0013 Name\x3d96.552186 3 +6 152668211 SYNE1 A G 5 0.00539137 0.0148 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 . . . 0.0181 nonsynonymous_SNV exonic . 0.0110801 T . . . D D . . 0.0151 Name\x3d99.478054 4 +6 152668215 SYNE1 C T 3 0.00479233 0.0114 . 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 . . . 0.0134 synonymous_SNV exonic . 0.0094565 . . . . . . . . 0.0130 Name\x3d99.478054 1 +6 152668272 SYNE1 C T 3 0.00239617 0.0080 . 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 . . . 0.0074 synonymous_SNV exonic . 0.0053233 . . . . . . . . 0.0080 Name\x3d99.166504 7 +6 152671475 SYNE1 A C 130 0.58746 0.6060 . MedGen:CN169374 not_specified Benign . . . 0.5998 . intronic . 0.578227 . . . . . . 0.7992 0.178 0.6098 Name\x3d99.073976 1.5 +6 152671499 SYNE1 A T 1 0.000998403 0.0047 . . . . . . . 0.0052 . intronic . 0.0032082 . . . . . . . . 0.0043 Name\x3d96.859266 3 +6 152671865 SYNE1 T G 4 0.0543131 0.0184 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 . . . 0.0188 nonsynonymous_SNV exonic . 0.0347667 T . . . B T . . 0.0201 Name\x3d99.118052 2.5 +6 152671919 SYNE1 G GA 130 0.56889 0.6100 . 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 . . . 0.5969 . intronic . 0.0643265 . . . . . . . . . Name\x3d98.955237 1 +6 152671975 SYNE1 A G 130 0.571286 0.6055 . . . . . . . . . intronic . 0.11703 . . . . . . . . . . 0 +6 152673147 SYNE1 G A 130 0.565895 0.6068 . 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 . . . 0.5997 . intronic . 0.576668 . . . . . . . . 0.6134 . 0 +6 152673312 SYNE1 C T 1 0.000399361 0.0015 . 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 . . . 0.0008 synonymous_SNV exonic . 0.0007697 . . . . . . . . 0.0002 Name\x3d99.253947 3 +6 152673519 SYNE1 A C 130 0.567492 0.6059 . MedGen:CN169374 not_specified Benign . . . 0.6000 . intronic . 0.56952 . . . . . . . . 0.6127 . 0 +6 152673543 SYNE1 C CT,CTT 130 0.00838658 0.0010 . . . . . . . . . intronic . 0.0019978 . . . . . . . . . . 10 +6 152674464 SYNE1 C A 1 0.00139776 0.0061 2.840 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0066 nonsynonymous_SNV exonic . 0.0045342 T . . . B T . . 0.0073 Name\x3d99.235883 4.5 +6 152674524 SYNE1 T C 1 0.000399361 0.0026 . 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 . . . 0.0014 synonymous_SNV exonic . 0.0009832 . . . . . . . . 0.0014 Name\x3d99.163144 3 +6 152675854 SYNE1 A G 130 0.568291 0.6059 . 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 . . . 0.5997 synonymous_SNV exonic . 0.579003 . . . . . . . . 0.6133 Name\x3d98.465042 1 +6 152679518 SYNE1 C T 6 0.0071885 0.0128 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|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 . . . 0.0151 nonsynonymous_SNV exonic . 0.0122702 T . . . B T . . 0.02 Name\x3d99.386715 2.5 +6 152679594 SYNE1 A G 3 0.00459265 0.0132 . 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 . . . 0.0160 synonymous_SNV exonic . 0.0106208 . . . . . . . . 0.0176 Name\x3d99.388364 1 +6 152679729 SYNE1 G A 33 0.143371 0.1696 . . . . . . . . . intronic . 0.027781 . . . . . . . . . Name\x3d95.303013 1 +6 152683278 SYNE1 A G 1 0.00139776 0.0050 . . . . . . . 0.0061 . intronic . 0.0035252 . . . . . . . . 0.0052 . 2 +6 152683413 SYNE1 G T 148 0.659145 0.6764 . 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 . . . 0.6646 synonymous_SNV exonic . 0.652644 . . . . . . . . 0.6806 Name\x3d99.256570 1 +6 152686071 SYNE1 A G 2 0.00199681 0.0054 . 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 . 0.0043984 . . . . . . . . 0.0064 Name\x3d99.546312 3 +6 152686090 SYNE1 G T 2 0.00199681 0.0055 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 . 0.0043984 T . . . B T . . 0.0064 Name\x3d99.514360 4.5 +6 152688366 SYNE1 G A 1 0.000199681 0.0001 0.385 MedGen:CN517202 not_provided Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 9.06e-05 T . . . B T . . . Name\x3d99.074810 6.5 +6 152688567 SYNE1 C T 192 0.863618 0.9301 . MedGen:CN169374 not_specified Benign . . . 0.9156 . intronic . 0.859213 . . . . . . . . 0.9177 . 0 +6 152690559 SYNE1 G A 103 0.410942 0.5392 . MedGen:CN169374 not_specified Benign . . . 0.5313 . intronic . 0.482219 . . . . . . . . 0.5455 . 0 +6 152694184 SYNE1 T C 103 0.468251 0.5391 . 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 . . . 0.5315 synonymous_SNV exonic . 0.481533 . . . . . . . . 0.5458 Name\x3d99.072521 1 +6 152694190 SYNE1 T C 1 0.000599042 0.0015 . 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 . . . 0.0019 synonymous_SNV exonic . 0.0012613 . . . . . . . . 0.0015 Name\x3d99.072521 3 +6 152697675 SYNE1 G T 2 0.00678914 0.0135 . 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 . . . 0.0141 synonymous_SNV exonic . 0.0126518 . . . . . . . . 0.0121 Name\x3d99.456772 1 +6 152697706 SYNE1 C T 111 0.529153 0.4688 . 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 . . . 0.4751 . intronic . 0.49196 . . . . . . . . 0.4606 Name\x3d97.825978 1 +6 152702434 SYNE1 C T 1 0.000199681 6.481e-05 2.351 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant Uncertain_significance Name\x3dENSR00000205414|Promoter . Name\x3dMIMAT0004591|hsa-miR-124-5p|Experimental 3.686e-05 nonsynonymous_SNV exonic . 1.94e-05 T . Name\x3dOREG1792781|N/A|RBL2|PAZAR,OREG1798830|N/A|RBL2|PAZAR,OREG1852140|N/A|RB1|PAZAR,OREG1780031|N/A|RBL2|PAZAR,OREG1814453|N/A|RBL2|PAZAR . B T . . . Name\x3d99.610273 9.5 +6 152708310 SYNE1 G A 62 0.249002 0.2150 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 . . . 0.2236 nonsynonymous_SNV exonic . 0.232397 T . . . B D . . 0.2190 Name\x3d98.966637 1 +6 152708366 SYNE1 G C 1 0.000199681 . . . . . . . . 3.68e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.010708 5 +6 152708472 SYNE1 C T 1 0.000199681 . 1.040 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 5.82e-05 T . . . B T . . . Name\x3d98.829875 6.5 +6 152711395 SYNE1 T A 91 0.561901 0.3805 . MedGen:CN169374 not_specified Benign . . . 0.3865 . intronic . 0.432394 . . . . . . . . 0.3801 Name\x3d97.943011 1 +6 152711422 SYNE1 C T 1 0.000199681 . 4.088 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 6.5e-06 T . . . D T . . . Name\x3d99.168299 5 +6 152711428 SYNE1 C T 1 0.00319489 0.0111 -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 . . . 0.0092 nonsynonymous_SNV exonic . 0.0062224 T . . . B T . . 0.0098 Name\x3d99.168299 2.5 +6 152712440 SYNE1 G T 3 0.00159744 0.0031 0.895 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity . . . 0.0036 nonsynonymous_SNV exonic . 0.0025549 T . . . P T . . 0.0035 Name\x3d99.262168 8.5 +6 152712714 SYNE1 G A 32 0.169728 0.0007 . 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 . . . 0.0011 . intronic . 0.0057697 . . . . . . . . . Name\x3d95.786451 1 +6 152712715 SYNE1 G A 32 0.169728 . . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . . . . intronic . 0.0057891 . . . . . . . . . Name\x3d95.786451 1 +6 152712730 SYNE1 G A 70 0.406949 0.0174 . . . . . . . 0.0047 . intronic . 0.0150192 . . . . . . . . . . 0 +6 152712752 SYNE1 C T 91 0.558706 0.3754 . MedGen:CN169374 not_specified Benign . . . 0.2410 . intronic . 0.263897 . . . . . . . . 0.2696 Name\x3d95.937609 1 +6 152717896 SYNE1 T C 8 0.014377 0.0338 . 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 . . . 0.0360 . intronic . 0.0276452 . . . . . . . . 0.0336 Name\x3d97.136500 1 +6 152718008 SYNE1 T C 1 0.000199681 0.0006 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 synonymous_SNV exonic . 0.0005045 . . . . . . . . 0.0006 Name\x3d99.451756 3 +6 152719792 SYNE1 C A 1 0.000199681 . 6.234 . . . . . . 3.681e-05 nonsynonymous_SNV exonic . 1.94e-05 T . . . D D . . . Name\x3d99.358161 8 +6 152722228 SYNE1 A G 91 0.519768 0.3804 . MedGen:CN169374 not_specified Benign . . . 0.3878 . intronic . 0.41601 . . . . . . . . 0.3803 . 0 +6 152725470 SYNE1 TAACTA T 1 0.071885 0.0067 . . . . . . . 0.0072 . intronic . 0.0010996 . . . . . . . . 0.0035 Name\x3d98.360903 1 +6 152728281 SYNE1 G A 1 0.000199681 . . . . . . . . 5.523e-05 synonymous_SNV exonic . 3.88e-05 . . . . . . . . . Name\x3d99.110740 5 +6 152730221 SYNE1 G A 1 0.000199681 . . . . . . . . 5.522e-05 synonymous_SNV exonic . 3.23e-05 . . . . . . . . 0.0001 Name\x3d99.302069 5 +6 152730736 SYNE1 A G 2 0.000998403 0.0017 . 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 . . . 0.0025 synonymous_SNV exonic . 0.0014101 . . . . . . . . 0.0026 Name\x3d99.015202 3 +6 152737559 SYNE1 G A 1 0.000199681 . 7.182 . . . . . . 1.84e-05 stopgain exonic . 1.29e-05 . . . . . . . . . Name\x3d98.882234 13 +6 152740681 SYNE1 T TA 52 0.35024 0.2129 . . . . . . . 0.3375 . intronic . 0.00011 . . . . . . . . 0.2008 Name\x3d96.331563 1 +6 152746593 SYNE1 A T 20 0.0327476 0.0619 -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 . . . 0.0546 nonsynonymous_SNV exonic . 0.0433436 T . . . B T . . 0.0516 Name\x3d99.236413 2.5 +6 152749373 SYNE1 G A 1 0.000199681 . 1.031 MedGen:CN517202 not_provided Uncertain_significance . . . 1.841e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . B T . . 0.0001 Name\x3d99.579704 6.5 +6 152749380 SYNE1 T G 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.579704 5 +6 152749494 SYNE1 C T 1 0.000599042 0.0016 -0.742 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|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 . . . 0.0014 nonsynonymous_SNV exonic . 0.0008667 T . . . B T . . 0.0016 Name\x3d98.734166 4.5 +6 152749540 SYNE1 C T 1 0.00239617 0.0095 . 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 . . . 0.0078 . intronic . 0.0051875 . . . . . . . . 0.0083 Name\x3d97.816710 3 +6 152751286 SYNE1 A T 1 0.000199681 . . . . . . . . 0.0002 synonymous_SNV exonic . 5.17e-05 . . . . . . . . . Name\x3d98.979088 5 +6 152751300 SYNE1 T C 1 0.000199681 6.489e-05 0.241 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN517202 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided Uncertain_significance . . . 0.0002 nonsynonymous_SNV exonic . 7.12e-05 T . . . B T . . 0.0001 Name\x3d98.967288 6.5 +6 152751367 SYNE1 A C 1 0.000199681 0.0042 . . . . . . . 0.0021 . intronic . 0.0008603 . . . . . . . . 0.0010 Name\x3d98.327224 3 +6 152751398 SYNE1 CA C 5 0.028754 0.0299 . . . . . . . . . intronic . 0.0016429 . . . . . . . . . Name\x3d97.496761 1 +6 152751426 SYNE1 A C 60 0.252196 0.2179 . . . . . . . . . intronic . 0.0439322 . . . . . . . . . . 0 +6 152751558 SYNE1 C T 102 0.595847 0.4123 . . . . . . . . . intronic . 0.0859303 . . . . . . . . . . 0 +6 152757122 SYNE1 A T 1 0.000199681 . 2.694 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 D . . . D D . . . Name\x3d99.615424 8 +6 152757224 SYNE1 G A 3 0.00239617 0.0041 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|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 . . . 0.0041 nonsynonymous_SNV exonic . 0.0030401 D . . . D D . . 0.0057 Name\x3d99.698299 13 +6 152763191 SYNE1 C T 1 0.00219649 0.0004 . MedGen:CN169374 not_specified Likely_benign . . . 0.0012 . intronic . 0.0011707 . . . . . . . . 0.0008 Name\x3d97.255133 3 +6 152763258 SYNE1 T C 8 0.0127796 0.0274 . 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 . 0.0181304 . . . . . . . . 0.0184 Name\x3d99.355319 1 +6 152763413 SYNE1 T C 1 0.000199681 . . . . . . . . 1.844e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d97.660919 5 +6 152765579 SYNE1 C T 4 0.00678914 0.0127 . 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 . . . 0.0136 synonymous_SNV exonic . 0.0093595 . . . . . . . . 0.0124 Name\x3d99.509282 1 +6 152768796 SYNE1 T G 108 0.597644 0.4303 . MedGen:CN169374 not_specified Benign . . . 0.4377 . intronic . 0.469806 . . . . . . . . 0.4338 Name\x3d97.892480 1 +6 152770645 SYNE1 G A 14 0.0185703 0.0394 . . . . . . . 0.0362 . intronic . 0.0277163 . . . . . . . . 0.0345 . 0 +6 152771749 SYNE1 T C 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . . . . . . . . . 4 +6 152771789 SYNE1 G T 1 0.000199681 . 4.036 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 T . . . B T . . . Name\x3d99.645753 6.5 +6 152771849 SYNE1 G A 26 0.048722 0.0729 . 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 . . . 0.0681 synonymous_SNV exonic . 0.0556655 . . Name\x3dOREG0232952|N/A|USF1|JASPAR . . . . . 0.0680 Name\x3d98.977898 2 +6 152772239 SYNE1 A C 1 0.000199681 . -0.914 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . Name\x3d99.392797 6.5 +6 152772264 SYNE1 A G 108 0.607228 0.4214 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 . . . 0.4304 nonsynonymous_SNV exonic . 0.471094 D . . . B D . . 0.4295 Name\x3d99.091145 4 +6 152774695 SYNE1 G A 1 0.000199681 6.48e-05 0.117 . . . . . . 5.522e-05 . intronic . 3.23e-05 T . . . B D . . 0.0001 Name\x3d97.578758 5 +6 152774917 SYNE1 A G 108 0.607428 0.4223 . . . . . . . . . intronic . 0.0880648 . . . . . . . . . Name\x3d95.619559 1 +6 152776540 SYNE1 T C 6 0.0061901 0.0095 . . . . . . . 0.0144 . intronic . 0.0106144 . . . . . . . . 0.0134 . 0 +6 152776750 SYNE1 G A 53 0.301518 0.2293 . MedGen:CN169374 not_specified Benign . . . 0.2419 . intronic . 0.252604 . . . . . . . . 0.2298 Name\x3d98.244524 1 +6 152777095 SYNE1 A C 26 0.0433307 0.0733 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 . . . 0.0682 nonsynonymous_SNV exonic . 0.0554068 T . . . B T . . 0.0679 Name\x3d99.151559 2.5 +6 152777200 SYNE1 A G 2 0.00339457 0.0076 . . . . . . . 0.0091 . intronic . 0.0067528 . . . . . . . . 0.0070 Name\x3d96.337826 3 +6 152777236 SYNE1 A G 1 0.000199681 . . . . . . . . . . intronic . 1.29e-05 . . . . . . . . . Name\x3d96.539355 5 +6 152779932 SYNE1 C T 1 0.000399361 6.483e-05 1.805 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN517202 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided Uncertain_significance . . . 3.683e-05 nonsynonymous_SNV exonic . 7.12e-05 T . . . B T . . . Name\x3d99.639193 6.5 +6 152779933 SYNE1 G A 8 0.0115815 0.0317 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 . 0.0252325 T . . . P D . . 0.0312 Name\x3d99.639193 1 +6 152782933 SYNE1 G A 108 0.602436 0.4223 . . . . . Name\x3dTEAD4::ELF1|ENSPFM0506|ENSM00205796216|11.7642286588,TEAD4::ELK1|ENSPFM0506|ENSM00205796216|11.7642286588,TEAD4::SPIB|ENSPFM0506|ENSM00205796216|11.7642286588 . . . intronic . 0.0886793 . . . . . . . . . Name\x3d98.934202 2 +6 152784054 SYNE1 G A 29 0.248802 0.1171 . MedGen:CN169374 not_specified Likely_benign . . . 0.1198 . intronic . 0.156751 . . . . . . . . 0.1307 Name\x3d98.134640 1 +6 152784075 SYNE1 C T 29 0.248802 0.1170 . MedGen:CN169374 not_specified Likely_benign . . . 0.1197 . intronic . 0.156583 . . . . . . . . 0.1305 Name\x3d96.081320 1 +6 152784621 SYNE1 T C 1 0.00399361 0.0089 4.526 . . . . . . 0.0086 nonsynonymous_SNV exonic . 0.0062224 T . . . D T . . 0.0080 Name\x3d99.438642 3 +6 152787026 SYNE1 G A 2 0.00119808 0.0019 . . . . . . . . . intronic . 0.0005821 . . . . . . . . . . 2 +6 152793375 SYNE1 TA T 25 0.195487 0.1103 . . . . Name\x3dENSR00000809955|Promoter . . . . intronic . 0.0216306 . . . . . . . . . Name\x3d98.279753 2 +6 152793412 SYNE1 C A 168 0.855232 0.7072 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000809955|Promoter . . 0.7185 . intronic rs4523096|Bipolar-disorder|1.15455|7E-8|PMID:28115744 0.743684 . . . . . . . . 0.7044 Name\x3d98.411950 2 +6 152793572 SYNE1 T A 82 0.483427 0.3382 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000809955|Promoter . . 0.3395 . intronic . 0.0222377 . . . . . . . . 0.0162 Name\x3d99.277318 2 +6 152793575 SYNE1 A G 108 0.602236 0.4149 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000809955|Promoter . . 0.4261 . intronic . 0.452219 . . . . . . . . 0.1459 Name\x3d99.277318 2 +6 152793628 SYNE1 C T 14 0.028754 0.0394 . . . . Name\x3dENSR00000809955|Promoter . . . . intronic . 0.0056726 . . . . . . . . . Name\x3d99.277837 2 +6 152806014 SYNE1 C T 2 0.00199681 0.0008 6.660 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|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 . . . 0.0014 nonsynonymous_SNV exonic . 0.0013583 D . . . D D . . 0.0010 Name\x3d99.568680 9 +6 152809527 SYNE1 A T 108 0.589257 0.4266 . 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 . . . 0.4377 . intronic . 0.465628 . . . . . . . 0.028 0.4328 Name\x3d98.927068 1 +6 152809540 SYNE1 A G 1 0.000199681 0.0012 . 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 . . . 0.0008 synonymous_SNV exonic . 0.0005045 . . . . . . . . 0.0010 Name\x3d99.211953 3 +6 152809699 SYNE1 A C 1 0.000199681 0.0001 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d97.628973 5 +6 152826456 SYNE1 T C 1 0.000199681 . 3.348 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B T . . . Name\x3d99.392559 5 +6 152831295 SYNE1 G A 1 0.000199681 0.0001 . . . . . . . 3.682e-05 . intronic . 2.59e-05 . . . . . . . . . Name\x3d97.881290 5 +6 152832851 SYNE1 T C 1 0.00279553 0.0115 . . . . . . . . . intronic . 0.0015524 . . . . . . . . . Name\x3d98.308234 1 +6 152847284 SYNE1 A G 1 0.00279553 0.0115 . 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 . . . 0.0124 synonymous_SNV exonic . 0.0076648 . . . . . . . . 0.0114 Name\x3d99.280894 1 +6 152847335 SYNE1 G A 74 0.264177 0.3310 . MedGen:CN169374 not_specified Benign . . . 0.3238 . intronic . 0.288366 . . . . . . . . 0.3233 . 0 +7 35271037 TBX20 C T 2 0.00339457 0.0077 . . . . Name\x3dENSR00001123772|TF_binding_site . . . . intronic . 0.0013519 . . Name\x3dOREG1694879|N/A|GATA3|PAZAR,OREG1646905|N/A|FOXA1|PAZAR,OREG1588470|N/A|FOXA1|PAZAR . . . . . . Name\x3d96.923844 3 +7 35271254 TBX20 T C 45 0.0888578 0.1493 . . . . . . . . . intronic . 0.0265132 . . Name\x3dOREG1694879|N/A|GATA3|PAZAR,OREG1646905|N/A|FOXA1|PAZAR,OREG1588470|N/A|FOXA1|PAZAR . . . . . 0.1782 Name\x3d99.624939 0 +7 35280480 TBX20 T C 1 0.000199681 . . . . . . . . 1.861e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d99.198201 3 +7 35280539 TBX20 G T 1 0.0305511 0.0008 . MedGen:CN230736 Cardiovascular_phenotype Benign . . . 0.0005 synonymous_SNV exonic . 0.0093789 . . . . . . . . 0.0006 Name\x3d99.941169 -5 +7 35280693 TBX20 C T 85 0.34365 0.3900 . . . . . . . 0.3820 . intronic . 0.371004 . . . . . . . . 0.3906 Name\x3d99.732609 1 +7 35288276 TBX20 T C 85 0.34365 0.3898 . . . . . . . 0.3810 . intronic . 0.378514 . . Name\x3dOREG1893137|N/A|STAT1|PAZAR . . . . . 0.3907 Name\x3d98.448200 2 +7 35293158 TBX20 G C 1 0.000199681 . 6.806 . . . Name\x3dENSR00000821757|Promoter . . 1.901e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . P D . . . Name\x3d99.961275 7 +7 35293193 TBX20 A G 154 0.69389 0.6737 . MedGen:C1969657,OMIM:611363|MedGen:CN230736 Atrial_septal_defect_4|Cardiovascular_phenotype Benign Name\x3dENSR00000821757|Promoter . . 0.6793 synonymous_SNV exonic . 0.674991 . . . . . . . . 0.6892 Name\x3d99.961100 -8 +7 35293222 TBX20 T A 3 0.000599042 0.0003 2.411 . . . Name\x3dENSR00000821757|Promoter . . 0.0002 nonsynonymous_SNV exonic . 0.0001488 T . . . P T . . 0.0002 Name\x3d99.962050 7.5 +7 81579832 CACNA2D1 T TA 21 0.0621006 0.0861 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.1015 . intronic . 0.0018111 . . . . . . . . 0.0808 . -6 +7 81588636 CACNA2D1 G A 64 0.222644 0.3060 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.3051 synonymous_SNV exonic . 0.282655 . . . . . . . . 0.3153 Name\x3d98.944438 -5 +7 81588738 CACNA2D1 G A 1 0.00139776 0.0003 . . . . . . . . . intronic . 0.0003458 . . . . . . . . . . 0 +7 81591114 CACNA2D1 GTAATGATTATAACAGTATATACAATTTCT G 145 0.698682 0.6894 . . . . . . . . . intronic . 0.0422622 . . . . . . . . . . -2 +7 81591409 CACNA2D1 G A 8 0.00778754 0.0228 . . . . . . . . . intronic . 0.0038486 . . . . . . . . . . -2 +7 81591716 CACNA2D1 T G 66 0.230232 0.3046 . . . . . . . 0.3534 . intronic . 0.271678 . . . . . . . . 0.3168 . -2 +7 81591827 CACNA2D1 A T 1 0.000199681 . . . . . . . . 9.198e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 +7 81593454 CACNA2D1 G A 56 0.257987 0.1989 . . . . . . . 0.2097 . intronic . 0.217481 . . . . . . . . 0.2076 . -2 +7 81593508 CACNA2D1 G A 1 0.000199681 6.488e-05 . . . . . . . 1.845e-05 . intronic . 1.29e-05 . . . . . . . . . . 2 +7 81594860 CACNA2D1 C T 1 0.000399361 . . . . . . . . 5.557e-05 . intronic . 0.0001876 . . . . . . . . . Name\x3d98.329747 3 +7 81596639 CACNA2D1 A G 1 0.000199681 . . . . . . . . . . intronic . 1.94e-05 . . . . . . . . . . 2 +7 81598129 CACNA2D1 T C 2 0.00858626 0.0142 . . . . . . . . . intronic . 0.0017852 . . . . . . . . . . -2 +7 81599131 CACNA2D1 G A 2 0.000798722 6.523e-05 . . . . . . . . . intronic . 0.0004226 . . . . . . . . . . 0 +7 81600168 CACNA2D1 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +7 81601231 CACNA2D1 C G 74 0.236422 0.3748 . . . . . . . 0.3720 . intronic . 0.0008344 . . . . . . . . 0.3844 . -2 +7 81603871 CACNA2D1 G GAA 28 0.096845 0.0833 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.1174 . intronic . 0.0019922 . . . . . . . . 0.0922 Name\x3d96.591094 -3 +7 81603945 CACNA2D1 AT A 154 0.678514 0.7292 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . -2 +7 81612766 CACNA2D1 T C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d99.126500 3 +7 81634681 CACNA2D1 G T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . Name\x3d97.103635 3 +7 81634822 CACNA2D1 GA AA,G 1 0.20028 0.0488 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.2788 . intronic . 0.0001617 . . . . . . . . . Name\x3d96.838848 -5 +7 81635221 CACNA2D1 T A 1 0.000199681 . . . . . . . . . . intronic . 7.68e-05 . . . . . . . . . . 2 +7 81635245 CACNA2D1 T C 1 0.00399361 0.0051 . . . . . . . . . intronic . 0.0006792 . . . . . . . . . . 0 +7 81641500 CACNA2D1 G A 1 0.00319489 0.0133 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.0127 synonymous_SNV exonic . 0.0084863 . . . . . . . . 0.0083 Name\x3d99.363203 -5 +7 81641570 LOC101927356 G GAA,GAAA,GAAAA 1 0.221046 0.2423 . MedGen:CN169374 not_specified Benign . . . 0.1138 . ncRNA_intronic . 0.0020246 . . . . . . . . . Name\x3d96.093890 -1 +7 81641571 LOC101927356 A G 2 0.00159744 0.0002 . MedGen:CN169374 not_specified Likely_benign . . . 0.0645 . ncRNA_intronic . 0.0034605 . . . . . . 0.0001 0.022 . . -2 +7 81642949 LOC101927356 C T 102 0.544728 0.3874 . . . . . . . . . ncRNA_intronic . 0.0001153 . . . . . . . . . . -2 +7 81643813 LOC101927356 T C 3 0.00359425 0.0071 . MedGen:CN169374 not_specified Benign . . . 0.0069 . ncRNA_intronic . 0.0054656 . . . . . . . . 0.0079 . 4 +7 81643836 LOC101927356 A C 1 0.000199681 . . . . . . . . 0.0002 . ncRNA_intronic . 0.0001164 . . . . . . . . . . 2 +7 81667468 CACNA2D1 C T 8 0.019369 0.0621 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.0500 synonymous_SNV exonic . 0.0372958 . . . . . . . . 0.0448 Name\x3d98.997462 -5 +7 81667579 CACNA2D1 A G 3 0.00239617 0.0059 . . . . . . . 0.0055 . intronic . 0.0039456 . . . . . . . . 0.0063 Name\x3d96.251529 5 +7 81689726 CACNA2D1 C T 1 0.000199681 . . . . . . . . 1.856e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d97.457519 3 +7 81693768 CACNA2D1 T C 29 0.091853 0.0763 . . . . . . . . . intronic . 0.0813355 . . . . . . . . . . -2 +7 81695859 CACNA2D1 G A 4 0.0071885 0.0010 . MedGen:CN169374 not_specified Likely_benign . . . 5.72e-05 . intronic . 5.82e-05 . . . . . . . . . . 4 +7 81746295 CACNA2D1 A G 1 0.00279553 0.0083 . . . . . . . . . intronic . 0.0014877 . . . . . . . . . . 0 +7 81765930 CACNA2D1 T G 1 0.000399361 0.0004 . . . . . . . 0.0004 . intronic . 0.0001617 . . . . . . . . 0.0001 Name\x3d96.778474 3 +7 81765996 CACNA2D1 C CA 20 0.125399 0.0816 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign . . . 0.1506 . intronic . 0.0001811 . . . . . . . . 0.0985 Name\x3d98.319391 -5 +7 81765997 CACNA2D1 A G 1 0.000199681 . . . . . . . . . . intronic . 0.0001811 . . . . . . 0.0077 0.164 . Name\x3d98.319391 3 +7 81799966 CACNA2D1 G A 4 0.0139776 0.0219 . . . . . . . 0.0239 . intronic . 0.0190166 . . . . . . . . 0.0274 . -2 +7 81799990 CACNA2D1 T C 4 0.0609026 0.0220 . . . . . . . . . intronic . 0.0062224 . . . . . . . . 0.0292 Name\x3d95.829055 -1 +7 81799996 CACNA2D1 C G 4 0.0609026 0.0220 . . . . . . . . . intronic . 0.0062354 . . . . . . . . 0.0289 Name\x3d95.778723 -1 +7 81800028 CACNA2D1 CAGA C 1 0.000798722 0.0008 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +7 81964578 CACNA2D1 G GA 50 0.16254 0.2173 . MedGen:CN169374 not_specified Benign . . . 0.2131 . intronic . 0.0050129 . . . . . . . . 0.2010 Name\x3d98.296986 -1 +7 81964649 CACNA2D1 T G 3 0.0385383 0.0112 . . . . . . . . . intronic . 0.0055627 . . . . . . . . . . -2 +7 82072789 CACNA2D1 G A 1 0.000199681 0.0002 . . . . Name\x3dENSR00000214488|Promoter . . 0.0002 . UTR5 . 0.0001035 . . Name\x3dOREG1901533|N/A|STAT1|PAZAR,OREG1511098|N/A|EGR1|PAZAR . . . . . 0.0002 Name\x3d99.501598 5 +7 91603004 AKAP9 G A 1 0.0225639 0.0003 0.259 . . . . . . 0.0003 . intronic . 0.0067205 . . . . . . . . 0.0006 . 0 +7 91603115 AKAP9 C T 2 0.00219649 0.0108 -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 . . . 0.0134 nonsynonymous_SNV exonic . 0.0083958 T . . . B T . . 0.0140 Name\x3d98.979146 0.5 +7 91622187 AKAP9 G C 1 0.000199681 . . . . . . . . 1.924e-05 . intronic . 1.29e-05 . . . . . . 0.0062 0.196 . Name\x3d98.607315 5 +7 91630330 AKAP9 G A 1 0.000199681 0.0003 -0.799 Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3150943,OMIM:613688|MedGen:CN169374|MedGen:CN517202 Cardiac_arrest|Long_QT_syndrome|Long_QT_syndrome_2|not_specified|not_provided Likely_benign . . . 0.0011 nonsynonymous_SNV exonic . 0.0002264 T . . . B D . . 0.0001 Name\x3d98.721270 1 +7 91630532 AKAP9 G A 1 0.0177716 6.488e-05 2.698 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 5.551e-05 nonsynonymous_SNV exonic . 0.0036157 T . . . P T . . 0.0002 Name\x3d99.144111 0.5 +7 91630565 AKAP9 T C 1 0.000199681 0.0002 4.893 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance . . . 0.0001 nonsynonymous_SNV exonic . 0.0001358 T . . . D D . . 0.0002 Name\x3d99.294499 8 +7 91630620 AKAP9 G T 86 0.372204 0.3794 -0.375 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1527249|MedGen:C2678483,OMIM:611820|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Colorectal_cancer|Long_QT_syndrome_11|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.4005 nonsynonymous_SNV exonic rs6964587|Breast-cancer|1.05|5E-7|PMID:25751625 0.37713 T . . . B T . . 0.4030 Name\x3d98.248874 0.5 +7 91632306 AKAP9 C T 185 0.935903 0.8487 . 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 . . . 0.8662 synonymous_SNV exonic . 0.881858 . . . . . . . . 0.8727 Name\x3d97.909585 -1 +7 91641682 AKAP9 A G 1 0.000998403 0.0005 . . . . . . . . . intronic . 0.000194 . . . . . . . . . . 2 +7 91641714 AKAP9 T C 1 0.00319489 6.483e-05 . . . . . . . 0.0002 . intronic . 0.0020698 . . . . . . . . . . 2 +7 91641928 AKAP9 A G 86 0.373802 0.3792 . 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 . 0.378158 . . . . . . . . 0.4031 Name\x3d99.016230 -1 +7 91643488 AKAP9 G C 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +7 91646406 AKAP9 G A 3 0.0109824 0.0064 0.354 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0179 nonsynonymous_SNV exonic . 0.0086739 T . . . B T . . 0.0089 Name\x3d98.284450 0.5 +7 91652178 AKAP9 A AAAC 86 0.42472 0.3774 . 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 . . . 0.4012 nonframeshift_insertion exonic rs10644111|Breast-cancer|0.0424|3E-11|PMID:29059683 0.0116816 . . Name\x3dOREG1655788|N/A|FOXA1|PAZAR,OREG1597449|N/A|FOXA1|PAZAR,OREG1689839|N/A|GATA3|PAZAR . . . . . 0.4031 Name\x3d97.988638 0 +7 91659150 AKAP9 C G 86 0.373802 0.3802 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 0 +7 91660820 AKAP9 A T 1 0.000599042 0.0003 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Likely_benign . . . 0.0005 . intronic . 0.0004269 . . . . . . 0.0002 0.048 0.0005 Name\x3d98.856765 3 +7 91667692 AKAP9 T G 86 0.359625 0.3784 . . . . . . . 0.4168 . intronic . 0.36418 . . . . . . . . 0.3989 Name\x3d96.327682 1 +7 91669950 AKAP9 T C 1 0.0091853 0.0176 . . . . . . . 0.0122 . intronic . 0.0011707 . . . . . . . . . . 0 +7 91669960 AKAP9 GT G 87 0.398363 0.0046 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign . . . 0.2608 . intronic . 0.0001164 . . . . . . . . . . -4 +7 91672166 AKAP9 T C 4 0.00738818 0.0075 . . . . . . . . . intronic . 0.0015588 . . Name\x3dOREG1271108|N/A|SMARCA4|PAZAR . . . . . . Name\x3d98.540475 8 +7 91674302 AKAP9 G A 86 0.428514 0.3793 . MedGen:C2678483,OMIM:611820|MedGen:CN169374 Long_QT_syndrome_11|not_specified Benign . . . 0.4013 . intronic . 0.388947 . . . . . . . . 0.4031 . 1 +7 91691601 AKAP9 C T 86 0.359824 0.3787 . 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 . 0.3694 . . . . . . . . 0.4031 Name\x3d99.418209 -1 +7 91706252 AKAP9 A G 1 0.000998403 0.0006 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0004 synonymous_SNV exonic . 0.0007115 . . Name\x3dOREG1655784|N/A|FOXA1|PAZAR,OREG1597448|N/A|FOXA1|PAZAR,OREG1689838|N/A|GATA3|PAZAR . . . . . 0.0002 Name\x3d99.223680 2 +7 91707197 AKAP9 C T 86 0.36242 0.3795 . 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 . . . 0.4315 . intronic . 0.0001746 . . . . . . . 0.006 0.4004 Name\x3d98.037291 1 +7 91708722 AKAP9 G A 1 0.00159744 0.0043 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign . . . 0.0039 synonymous_SNV exonic . 0.0029236 . . . . . . . . 0.0047 Name\x3d98.807394 -1 +7 91708898 AKAP9 A G 31 0.0654952 0.1519 -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 . . . 0.1349 nonsynonymous_SNV exonic . 0.109035 T . . . B T . . 0.1273 Name\x3d98.258596 0.5 +7 91708935 AKAP9 T G 1 0.000199681 0.0005 -0.178 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 nonsynonymous_SNV exonic . 0.0002911 T . . . B T . . 0.0002 Name\x3d98.887135 8.5 +7 91711791 AKAP9 A AT,G 1 0.360623 0.3801 . . . . . . . 0.4056 . intronic . 0.0001035 . . . . . . . . 0.4042 . 0 +7 91712609 AKAP9 A C 2 0.000798722 0.0019 -0.507 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 Conflicting_interpretations_of_pathogenicity . . . 0.0022 nonsynonymous_SNV exonic . 0.0013001 T . . . B D . . 0.0013 Name\x3d98.736401 7 +7 91712678 AKAP9 T G 1 0.000199681 . . . . . . . . 1.841e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d98.456065 5 +7 91712698 AKAP9 A G 85 0.295927 0.3777 -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 . . . 0.3996 nonsynonymous_SNV exonic . 0.353333 T . . . B T . . 0.4013 Name\x3d99.156142 0.5 +7 91713016 AKAP9 TA T 86 0.360623 0.3954 . . . . . . . 0.5129 . intronic . 0.0043596 . . . . . . . . . . 0 +7 91713017 AKAP9 A T 73 0.322085 0.0004 . . . . . . . 0.0083 . intronic . 0.0309634 . . . . . . . . . . 0 +7 91713018 AKAP9 A T 86 0.360623 0.3775 . . . . . . . 0.4950 . intronic . 0.287849 . . . . . . . . . . 0 +7 91713972 AKAP9 C T 86 0.373802 0.3793 . 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 . . . 0.4004 synonymous_SNV exonic . 0.373947 . . . . . . . . 0.4027 Name\x3d98.200976 -1 +7 91714911 AKAP9 C T 214 0.998802 0.9941 -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 . . . 0.9965 nonsynonymous_SNV exonic . 0.0001035 T . . . B T . . 0.9962 Name\x3d98.818023 0.5 +7 91714998 AKAP9 G A 1 0.000199681 . 0.726 . . . . . . 2.281e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . B T . . . Name\x3d98.993761 6.5 +7 91715662 AKAP9 C T 85 0.295727 0.3779 . 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 . . . 0.3994 synonymous_SNV exonic . 0.345701 . . . . . . . . 0.4013 Name\x3d99.049498 -1 +7 91718874 AKAP9 A G 1 0.0125799 0.0217 0.526 . . . . . . 0.0194 . intronic . 0.0196375 . . . . . . . . 0.0203 Name\x3d97.308932 1 +7 91726280 AKAP9 G A 1 0.000199681 . 0.447 . . . . . . 1.841e-05 nonsynonymous_SNV exonic . 3.23e-05 T . . . B T . . . Name\x3d98.708410 6.5 +7 91726470 AKAP9 T C 1 0.000998403 0.0021 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign . . . 0.0018 synonymous_SNV exonic . 0.0014942 . . . . . . . . 0.0030 Name\x3d99.231276 1 +7 91726927 AKAP9 A C 86 0.377396 0.3788 . 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 . . . 0.4004 synonymous_SNV exonic . 0.379795 . . . . . . . . 0.4036 Name\x3d98.643307 -1 +7 91727018 AKAP9 C A 1 0.000199681 . 0.054 . . . . . . . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . Name\x3d98.437901 6.5 +7 91727385 AKAP9 G A 86 0.362021 0.3789 . . . . . . . 0.4175 . intronic . 0.365532 . . . . . . . . 0.4027 . 0 +7 91727479 AKAP9 A T 1 0.000599042 0.0011 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 . . . 0.0015 nonsynonymous_SNV exonic . 0.0008926 T . . . D D . . 0.0013 Name\x3d98.791561 10 +7 91727487 AKAP9 A G 1 0.000998403 0.0006 3.059 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0011 nonsynonymous_SNV exonic . 0.0008021 T . . . P D . . 0.0008 Name\x3d98.674099 7 +7 91729127 AKAP9 A G 2 0.00678914 0.0100 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 . . . 0.0098 nonsynonymous_SNV exonic . 0.0073479 T . . . B T . . 0.0088 Name\x3d98.850297 2.5 +7 91730115 AKAP9 G C 1 0.00139776 0.0079 . . . . . . . . . intronic . 0.0007568 . . . . . . . . . Name\x3d98.519386 3 +7 91732083 AKAP9 G A 1 0.00159744 0.0019 2.838 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.0023 nonsynonymous_SNV exonic . 0.0015524 T . . . B T . . 0.0021 Name\x3d99.047890 2.5 +7 91734904 AKAP9 A G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +7 91734913 AKAP9 C T 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 4 +7 91735104 AKAP9 A C 2 0.00139776 0.0005 . . . . . . . 0.0007 . intronic . 0.0008279 . . . . . . . . 0.0001 Name\x3d95.534004 3 +7 91735110 AKAP9 A G 1 0.000199681 6.487e-05 . . . . . . . 1.857e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d95.534004 5 +7 91736794 AKAP9 T A 88 0.428315 0.3769 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . . 1 +7 91736803 AKAP9 AT A 1 0.000599042 0.0033 . . . . . . . . . intronic . 0.0008068 . . . . . . . . . . 2 +7 91739498 AKAP9 G A 1 0.000399361 0.0002 . . . . . . . 0.0002 . UTR3 . 7.76e-05 . . . . . . . . . Name\x3d99.121816 5 +7 92077202 GATAD1 G A 1 0.000199681 . . . . . Name\x3dENSR00000215088|Promoter . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1193989|N/A|TFAP2C|PAZAR,OREG1516294|N/A|EGR1|PAZAR,OREG1275317|N/A|SMARCA4|PAZAR,OREG1907246|N/A|STAT1|PAZAR . . . . . . Name\x3d99.289036 7 +7 92077203 GATAD1 G A 25 0.0816693 0.1303 -0.493 MedGen:C3553409,OMIM:614672|MedGen:CN169374 Cardiomyopathy,_dilated,_2b|not_specified Benign Name\x3dENSR00000215088|Promoter . . 0.3 nonsynonymous_SNV exonic . 0.0222572 T . Name\x3dOREG1516294|N/A|EGR1|PAZAR,OREG1193989|N/A|TFAP2C|PAZAR,OREG1907246|N/A|STAT1|PAZAR,OREG1275317|N/A|SMARCA4|PAZAR . B T . . . Name\x3d99.289036 1.5 +7 92084022 GATAD1 G GT 12 0.0179712 0.0342 . . . . . . . 0.0368 . intronic . 0.0011319 . . . . . . . . 0.0412 . 0 +7 92085763 GATAD1 C T 5 0.00698882 0.0139 7.208 MedGen:C3553409,OMIM:614672|MedGen:CN169374 Cardiomyopathy,_dilated,_2b|not_specified Benign . . . 0.0166 nonsynonymous_SNV exonic . 0.0117786 T . . . D D . . 0.0155 Name\x3d99.546593 0 +7 128470838 FLNC C T 21 0.110024 0.0926 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign Name\x3dENSR00000217783|Promoter . . 0.0844 synonymous_SNV exonic . 0.091907 . . Name\x3dOREG1511284|N/A|EGR1|PAZAR . . . . . 0.0851 Name\x3d99.926054 1 +7 128471084 FLNC G A 1 0.000599042 0.0018 . . . . Name\x3dENSR00000217783|Promoter . . 0.0015 . intronic . 0.0008926 . . Name\x3dOREG1511284|N/A|EGR1|PAZAR . . . . . 0.0021 Name\x3d98.617837 3 +7 128475583 FLNC C A 1 0.000199681 . 2.790 . . . . . . 1.842e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . B D . . . Name\x3d99.925415 6 +7 128475624 FLNC C T 2 0.00119808 0.0018 . 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 . . . 0.0026 synonymous_SNV exonic . 0.0017335 . . . . . . . . 0.0021 Name\x3d99.904921 -3 +7 128475627 FLNC C T 1 0.000199681 0.0004 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0004 synonymous_SNV exonic . 0.0002523 . . . . . . 0.0001 0.074 0.0001 Name\x3d99.904921 11 +7 128477472 FLNC T C 26 0.121805 0.1202 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.1103 synonymous_SNV exonic . 0.108304 . . Name\x3dOREG1511288|N/A|EGR1|PAZAR . . . . . 0.1110 Name\x3d99.885324 0 +7 128477547 FLNC T C 26 0.121006 0.1201 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.1103 synonymous_SNV exonic . 0.107023 . . Name\x3dOREG1511288|N/A|EGR1|PAZAR . . . . . 0.1108 Name\x3d99.871093 0 +7 128477620 FLNC G A 24 0.076877 0.0897 . MedGen:CN169374 not_specified Benign . . . 0.0882 . intronic . 0.0807363 . . Name\x3dOREG1511288|N/A|EGR1|PAZAR . . . . . 0.0864 Name\x3d98.350675 0 +7 128477865 FLNC G A 8 0.197484 0.0396 . . . . . . . . . intronic . 0.0165522 . . Name\x3dOREG1511288|N/A|EGR1|PAZAR . . . . . . Name\x3d96.449430 0 +7 128478103 FLNC C T 8 0.196486 0.0397 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0430 synonymous_SNV exonic . 0.0938798 . . Name\x3dOREG1511288|N/A|EGR1|PAZAR . . . . . 0.0409 Name\x3d99.811704 0 +7 128478605 FLNC C T 1 0.0191693 0.0002 . . . . . . . . . intronic . 0.0052251 . . . . . . . . 0.0005 . -2 +7 128480099 FLNC C T 1 0.000199681 0.0003 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . 0.0003 synonymous_SNV exonic . 0.0001164 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0006 Name\x3d99.837926 -2 +7 128480123 FLNC C A 3 0.196086 0.0192 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0208 synonymous_SNV exonic . 0.0789058 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0179 Name\x3d99.845743 0 +7 128480229 FLNC C A 1 0.00139776 0.0062 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0065 . intronic . 0.0041591 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0052 Name\x3d96.189887 2 +7 128480620 FLNC T C 1 0.000199681 0.0003 4.290 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . . 0.0002 nonsynonymous_SNV exonic . 0.0001682 D . Name\x3dOREG1511285|N/A|EGR1|PAZAR . D D . . 0.0001 Name\x3d99.843246 15 +7 128480666 FLNC C T 4 0.0159744 0.0445 . 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 . . . 0.0400 synonymous_SNV exonic . 0.0309698 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0347 Name\x3d99.853672 -8 +7 128480791 FLNC C G 27 0.298123 0.0914 . . . . . . . . . intronic . 0.0002689 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . . . -1 +7 128480793 FLNC GGGCTGCGAGGGAGTTTGAGGGGAGATGGAGTT G 4 0.019369 0.0442 . . . . . . . . . intronic . 0.0085677 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . . Name\x3d97.612602 0 +7 128481035 FLNC G T 2 0.00239617 0.0004 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0008 . intronic . 0.0008409 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0005 Name\x3d99.198328 2 +7 128481060 FLNC G A 6 0.00459265 0.0078 . MedGen:CN169374 not_specified Likely_benign . . . 0.0101 . intronic . 0.0052069 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0075 Name\x3d99.235678 0 +7 128481196 FLNC T C 8 0.264976 0.0428 . MedGen:CN169374 not_specified Benign . . . 0.0456 . intronic . 0.117418 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0434 Name\x3d95.552168 0 +7 128481312 FLNC G A 1 0.00159744 0.0064 . 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 . . . 0.0065 synonymous_SNV exonic . 0.0041591 . . Name\x3dOREG1511285|N/A|EGR1|PAZAR . . . . . 0.0054 Name\x3d99.917557 -6 +7 128481386 FLNC T G 1 0.000399361 . 0.903 MedGen:CN169374 not_specified Likely_benign . . . 7.361e-05 nonsynonymous_SNV exonic . 0.0003428 T . Name\x3dOREG1511285|N/A|EGR1|PAZAR . P T . . . Name\x3d99.909324 5.5 +7 128481578 FLNC A C 1 0.00199681 0.0040 6.252 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign . . . 0.0059 nonsynonymous_SNV exonic . 0.0033699 D . Name\x3dOREG1414129|N/A|E2F1|PAZAR,OREG1511285|N/A|EGR1|PAZAR . D D . . 0.0054 Name\x3d99.911369 0 +7 128482258 FLNC T C 1 0.00179712 0.0055 . MedGen:CN169374 not_specified Likely_benign . . . 0.0058 . intronic . 0.0036028 . . Name\x3dOREG1807084|N/A|RBL2|PAZAR,OREG1511283|N/A|EGR1|PAZAR,OREG1414129|N/A|E2F1|PAZAR . . . . . 0.0058 Name\x3d97.682487 2 +7 128482440 FLNC C G 9 0.267372 0.0539 . MedGen:CN169374 not_specified Benign . . . 0.0541 . intronic . 0.124352 . . Name\x3dOREG1511283|N/A|EGR1|PAZAR,OREG1414129|N/A|E2F1|PAZAR . . . . . 0.0515 Name\x3d99.717984 0 +7 128482806 FLNC G T 4 0.0147764 0.0447 . . . . . . . 0.0691 . intronic . 0.0295727 . . Name\x3dOREG1511283|N/A|EGR1|PAZAR . . . . . 0.0348 . -1 +7 128482834 FLNC C T 5 0.00339457 0.0104 . MedGen:CN169374 not_specified Benign . . . 0.0176 . intronic . 0.0096635 . . Name\x3dOREG1511283|N/A|EGR1|PAZAR . . . . . 0.0114 Name\x3d97.784910 0 +7 128482835 FLNC C T 4 0.0147764 0.0450 . MedGen:CN169374 not_specified Benign . . . 0.0454 . intronic . 0.0304265 . . Name\x3dOREG1511283|N/A|EGR1|PAZAR . . . . . 0.0352 Name\x3d97.784910 0 +7 128483227 FLNC T C 34 0.361821 0.1734 . . . . . . . . . intronic . 0.223336 . . . . . . . . 0.1647 . -2 +7 128483635 FLNC C T 1 0.000199681 . . . . . . . . . . intronic . 1.29e-05 . . Name\x3dOREG1511287|N/A|EGR1|PAZAR . . . 0.0012 0.008 . Name\x3d99.811524 4 +7 128484373 FLNC T C 1 0.000199681 . . . . . . . . . . intronic . 6.5e-06 . . Name\x3dOREG1511287|N/A|EGR1|PAZAR . . . . . . Name\x3d95.841478 4 +7 128484816 FLNC A G 34 0.379992 0.1725 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.1635 synonymous_SNV exonic . 0.227856 . . . . . . . . 0.1648 Name\x3d99.911154 -1 +7 128484977 FLNC T G 1 0.000399361 0.0001 3.089 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant|not_provided Uncertain_significance . . . 7.361e-05 nonsynonymous_SNV exonic . 7.76e-05 D . . . D T . . . Name\x3d99.903659 6 +7 128485240 FLNC C T 2 0.00199681 0.0116 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 . 0.0064035 D . Name\x3dOREG1511289|N/A|EGR1|PAZAR . D D . . 0.0095 Name\x3d99.927642 -2 +7 128486091 FLNC C T 4 0.0197684 0.0451 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign . . . 0.0403 synonymous_SNV exonic . 0.0322117 . . Name\x3dOREG1511289|N/A|EGR1|PAZAR . . . . . 0.0345 Name\x3d99.724262 -8 +7 128486252 FLNC T TGGGCAGGTGGGCAGGGCC 8 0.158147 0.0410 . . . . . . . 0.0427 . intronic . 0.0023286 . . Name\x3dOREG1511289|N/A|EGR1|PAZAR . . . . . 0.0411 . -1 +7 128486363 FLNC C T 35 0.346046 0.1723 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.1718 synonymous_SNV exonic . 0.221077 . . Name\x3dOREG1511289|N/A|EGR1|PAZAR . . . . . 0.1622 Name\x3d99.817214 1 +7 128486412 FLNC G A 1 0.000798722 0.0001 5.915 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0013 nonsynonymous_SNV exonic . 0.000925 T . Name\x3dOREG1511289|N/A|EGR1|PAZAR . D T . . 0.0018 Name\x3d99.869129 13 +7 128486446 FLNC C T 8 0.160543 0.0395 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0428 synonymous_SNV exonic . 0.0846626 . . Name\x3dOREG1511289|N/A|EGR1|PAZAR . . . . . 0.0401 Name\x3d99.751165 0 +7 128486579 FLNC C T 2 0.0091853 0.0191 . . . . . . . . . intronic . 0.0028784 . . Name\x3dOREG1511289|N/A|EGR1|PAZAR . . . . . . Name\x3d95.382266 0 +7 128487866 FLNC T C 214 0.990615 0.9999 . MedGen:CN169374 not_specified Benign . . . 0.9999 synonymous_SNV exonic . 0.942122 . . . . . . . . 1 Name\x3d99.845580 -1 +7 128487893 FLNC G A 8 0.257788 0.0426 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0455 synonymous_SNV exonic . 0.115917 . . . . . . . . 0.0433 Name\x3d99.841626 -1 +7 128488072 FLNC C T 1 0.000199681 . . . . . . . . 2.886e-05 synonymous_SNV exonic . 1.29e-05 . . . . . . . . . Name\x3d99.796056 3 +7 128488734 FLNC G A 21 0.0625 0.0889 4.924 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0871 nonsynonymous_SNV exonic . 0.0760145 T . Name\x3dOREG1948233|N/A|ZNF263|PAZAR . D T . . 0.0850 Name\x3d99.753541 0 +7 128488800 FLNC G A 4 0.0147764 0.0449 . . . . . . . 0.0402 . intronic . 0.0306206 . . Name\x3dOREG1948233|N/A|ZNF263|PAZAR . . . . . 0.0352 Name\x3d96.458778 0 +7 128490012 FLNC C T 1 0.000798722 . . MedGen:CN169374 not_specified Likely_benign . . . 4.969e-05 . intronic . 0.0002199 . . Name\x3dOREG1511286|N/A|EGR1|PAZAR,OREG1948233|N/A|ZNF263|PAZAR . . . . . . Name\x3d99.629189 2 +7 128490553 FLNC T C 37 0.403355 0.2066 . MedGen:CN169374 not_specified Benign . . . 0.1952 . intronic . 0.25347 . . Name\x3dOREG1511286|N/A|EGR1|PAZAR . . . . . 0.1900 . 0 +7 128490926 FLNC C T 1 0.000599042 0.0002 5.676 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 . . . . nonsynonymous_SNV exonic . 6.47e-05 D . Name\x3dOREG1511286|N/A|EGR1|PAZAR . D D . . . Name\x3d99.911903 8 +7 128491497 FLNC C T 4 0.0147764 0.0450 . MedGen:CN169374 not_specified Benign . . . 0.0402 . intronic . 0.0308534 . . . . . . 0.0004 0.03 0.0352 Name\x3d96.588695 -1 +7 128491603 FLNC T C 8 0.288938 0.0430 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0458 synonymous_SNV exonic . 0.126001 . . . . . . . . 0.0448 Name\x3d99.571013 -1 +7 128492817 FLNC G A 1 0.00399361 0.0103 . MedGen:CN169374 not_specified Benign . . . 0.0107 . intronic . 0.0075096 . . . . . . . . 0.0128 Name\x3d98.608845 -1 +7 128492825 FLNC G A 1 0.00479233 0.0180 . MedGen:CN169374 not_specified Benign . . . 0.0191 . intronic . 0.0127295 . . . . . . . . 0.0172 Name\x3d97.784642 -1 +7 128495338 FLNC C T 9 0.258786 0.0424 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign . . . 0.0454 synonymous_SNV exonic . 0.117101 . . . . . . . . 0.0436 Name\x3d99.788221 -1 +7 128497040 FLNC C T 1 0.00638978 0.0082 . . . . . . . . . intronic . 0.0014489 . . . . . . . . . Name\x3d95.648942 1 +7 128498228 FLNC C T 1 0.000399361 0.0014 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . 0.0010 synonymous_SNV exonic . 4.53e-05 . . . . . . . . 0.0004 Name\x3d99.884349 -3 +7 128498630 FLNC TACACAC TACAC,T 1 0.0890575 0.1095 . . . . . . . . . UTR3 . 0.0001537 . . . . . . . . . Name\x3d99.391891 -1 +7 136699781 CHRM2 G A 1 0.000199681 6.494e-05 4.382 . . . . . . 7.369e-05 nonsynonymous_SNV exonic . 6.47e-05 T . . . D T . . . Name\x3d99.221010 5 +7 136700303 CHRM2 G A 1 0.000998403 0.0066 2.077 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0044 nonsynonymous_SNV exonic . 0.0031694 T . . . B T . . 0.0049 Name\x3d98.373524 2.5 +7 136700385 CHRM2 A G 1 0.000998403 0.0008 -1.074 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . . 0.0019 nonsynonymous_SNV exonic . 0.0014165 T . . . B T . . 0.0017 Name\x3d98.345054 2.5 +7 136700726 CHRM2 C G 1 0.000399361 0.0014 0.481 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign . . . 0.0019 nonsynonymous_SNV exonic . 0.0011707 T . . . B T . . 0.0016 Name\x3d99.064361 2.5 +7 150644388 KCNH2 C G 1 0.000399361 0.0004 . . . . . . . . . intronic . 1.94e-05 . . . . . . . . . Name\x3d95.455739 5 +7 150644394 KCNH2 C T 50 0.385583 0.2218 . . . . . . . 0.3438 . intronic . 0.119759 . . . . . . . . 0.1625 Name\x3d97.052835 1 +7 150644428 KCNH2 C A 3 0.00898562 0.0355 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 . . . 0.015 nonsynonymous_SNV exonic . 0.0071927 T . . . B T . . 0.0178 Name\x3d99.914344 9 +7 150644755 KCNH2 C T 1 0.000199681 6.494e-05 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign . . . 6.178e-05 synonymous_SNV exonic . 3.88e-05 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.875936 4 +7 150644866 KCNH2 C T 1 0.000199681 . . . . . . . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.931807 6 +7 150644890 KCNH2 C G 1 0.000199681 . . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Likely_benign . . . . synonymous_SNV exonic . 6.5e-06 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.891142 6 +7 150645015 KCNH2 G A 1 0.000599042 0.0018 . . . . . . . . . intronic . 0.0001682 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d97.463811 4 +7 150645023 KCNH2 G A 20 0.174121 0.1144 . . . . . . . . . intronic . 0.0226776 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d98.088842 2 +7 150645534 KCNH2 T G 63 0.136182 0.2613 2.039 EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0005110,MedGen:C0004238|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Atrial_fibrillation|Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.2327 nonsynonymous_SNV exonic rs1805123|Body-mass-index||3E-13|PMID:30595370 0.181039 T . Name\x3dOREG1195933|N/A|TFAP2C|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR . P T . 0.024 0.2326 Name\x3d99.935937 1.5 +7 150645682 KCNH2 G A 134 0.709465 0.5611 . . . . . . . 0.5609 . intronic . 0.002749 . . Name\x3dOREG1195933|N/A|TFAP2C|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.5610 Name\x3d98.570218 2 +7 150647569 KCNH2 T C 138 0.754992 0.5999 . . . . . . . . . intronic . 0.0199785 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d98.442207 2 +7 150647969 KCNH2 C T 67 0.273762 0.2588 . . . . . . . 0.2644 . intronic rs2072413|QT-interval|1.534928|3E-10|PMID:31217584 0.233302 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.2281 Name\x3d97.922226 2 +7 150647970 KCNH2 C G 67 0.273762 0.2591 . . . . . . . 0.2650 . intronic . 0.233516 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.2324 Name\x3d97.922226 2 +7 150648198 KCNH2 A G 138 0.772165 0.6011 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.5985 synonymous_SNV exonic . 0.652417 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.5898 Name\x3d99.928297 0 +7 150648229 KCNH2 G A 1 0.00239617 6.495e-05 . . . . . . . 5.934e-05 . intronic . 0.0004269 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.854819 4 +7 150648789 KCNH2 T C 76 0.608427 0.3831 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign Name\x3dENSR00001133220|Enhancer . . 0.3749 synonymous_SNV exonic . 0.464567 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.3601 Name\x3d99.937504 1 +7 150648986 KCNH2 G C 78 0.431709 0.3306 . . . . Name\x3dENSR00001133220|Enhancer . . . . intronic . 0.0001153 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d95.811896 3 +7 150649531 KCNH2 G A 50 0.341653 0.2216 . 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 . . . 0.2205 synonymous_SNV exonic . 0.281769 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR . . . . . 0.2133 Name\x3d99.935941 -2 +7 150649542 KCNH2 G A 1 0.000599042 0.0014 . 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 . 0.0013842 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR . . . . . 0.0017 Name\x3d99.937377 2 +7 150649603 KCNH2 G A 51 0.342652 0.2227 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign . . . 0.2197 synonymous_SNV exonic . 0.281238 . . Name\x3dOREG1518326|N/A|EGR1|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR . . . . . 0.2135 Name\x3d99.936884 0 +7 150649984 KCNH2 G C 1 0.000199681 0.0001 . . . . . . . 9.612e-05 . intronic . 5.17e-05 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR . . . . . 0.0003 Name\x3d98.858473 6 +7 150652419 KCNH2 T C 20 0.133786 0.1128 . . . . Name\x3dENSR00000843775|Promoter . . . . intronic . 0.0205172 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR . . . . . . Name\x3d99.455927 3 +7 150652420 KCNH2 G A 1 0.000199681 0.0005 . . . . Name\x3dENSR00000843775|Promoter . . . . intronic . 0.0001537 . . Name\x3dOREG1518324|N/A|EGR1|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.455927 5 +7 150654622 KCNH2 A AG 214 1 1 . . . . . . . 1 . intronic . 0.0001682 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR . . . . . 0.9988 Name\x3d99.133938 2 +7 150655624 KCNH2 T C 70 0.501797 0.3342 . . . . . Name\x3dTEAD4::MAX|ENSPFM0565|ENSM00196668572|11.0508198118 . 0.3456 . intronic . 0.146311 . . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR . . . . . 0.2406 Name\x3d98.995433 4 +7 150655643 KCNH2 G A 70 0.4998 0.3343 . . . . . . . . . intronic . 0.0660535 . . Name\x3dOREG1518324|N/A|EGR1|PAZAR,OREG1277197|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.114841 3 +7 150656690 KCNH2 G A 1 0.000599042 0.0006 4.974 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity . . . 0.0015 nonsynonymous_SNV exonic . 0.0009702 D . Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR . B D . . 0.0019 Name\x3d99.909359 11 +7 150671769 KCNH2 G A 1 0.0215655 0.0028 . . . . Name\x3dENSR00000843782|Promoter . . 0.0094 . intronic . 0.0047865 . . Name\x3dOREG1195931|N/A|TFAP2C|PAZAR,OREG1518323|N/A|EGR1|PAZAR . . . . . 0.0025 Name\x3d99.825010 3 +7 150671772 KCNH2 C G 1 0.00219649 0.0034 . . . . Name\x3dENSR00000843782|Promoter . . 0.0047 . intronic . 0.0008667 . . Name\x3dOREG1518323|N/A|EGR1|PAZAR,OREG1195931|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.580146 5 +7 150671793 KCNH2 T C 1 0.000199681 . . . . . Name\x3dENSR00000843782|Promoter . . . . intronic . 6.5e-06 . . Name\x3dOREG1518323|N/A|EGR1|PAZAR,OREG1195931|N/A|TFAP2C|PAZAR . . . . 0.064 . Name\x3d99.886612 7 +7 150675078 KCNH2 C G 1 0.000199681 . . . . . Name\x3dENSR00000219763|Promoter . . . . UTR5 . 3.84e-05 . . . . . . . . . Name\x3d99.855006 6 +7 151254175 PRKAG2 T C 139 0.554313 0.6412 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN239247 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Likely_benign . . . . . UTR3 . 0.120975 . . . . . . . . . Name\x3d99.634026 -3 +7 151254231 PRKAG2 C T 3 0.00519169 0.0069 . . . . . . . . . UTR3 . 0.0014036 . . . . . . . . 0.0082 Name\x3d99.779129 5 +7 151254443 PRKAG2 G A 8 0.0131789 0.0439 . . . . . . . . . intronic . 0.0040038 . . . . . . . . . Name\x3d96.862168 -1 +7 151254445 PRKAG2 T C 139 0.540136 0.6415 . . . . . . . . . intronic . 0.0066851 . . . . . . . . . Name\x3d96.862168 -1 +7 151262385 PRKAG2 T C 8 0.0171725 0.0331 . . . . . . . 0.0427 . intronic . 0.0240165 . . . . . . . . 0.0316 Name\x3d98.515273 -1 +7 151262528 PRKAG2 A C 1 0.00239617 0.0008 . . . . . . . . . intronic . 0.001191 . . . . . . . . . Name\x3d96.112605 1 +7 151267237 PRKAG2 GA GAA 2 . . . . . . . . . . . intronic . . . . . . . . . . . Name\x3d99.488128 5 +7 151267292 PRKAG2 T A 1 0.000199681 . . MedGen:CN169374 not_specified Likely_benign . . . 3.699e-05 synonymous_SNV exonic . 1.94e-05 . . . . . . . . . Name\x3d99.871140 3 +7 151267353 PRKAG2 G A 23 0.144169 0.1206 . MedGen:CN169374 not_specified Benign . . . 0.1170 . intronic . 0.136803 . . . . . . . . 0.1105 Name\x3d99.186830 -1 +7 151267397 PRKAG2 G A 40 0.242412 0.2441 . . . . . . . . . intronic . 0.0458597 . . . . . . . . . Name\x3d98.575774 -1 +7 151269890 PRKAG2 T A 23 0.147764 0.1203 . . . . . . . . . intronic . 0.0247668 . . . . . . . . . Name\x3d97.272002 -1 +7 151269916 PRKAG2 C T 23 0.147764 0.1206 . . . . . . . . . intronic . 0.13182 . . . . . . . . . Name\x3d97.077991 -1 +7 151292395 PRKAG2 A AT 156 0.804712 0.7260 . MedGen:CN169374 not_specified Likely_benign . . . 0.7366 . intronic . 0.0997335 . . . . . . . . 0.7284 . -2 +7 151292609 PRKAG2 G A 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +7 151292614 PRKAG2 C T 1 0.000199681 0.0002 . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +7 151329345 PRKAG2 G A 2 0.0547125 0.0044 . . . . Name\x3dENSR00000219874|Promoter . . . . intronic . 0.0203627 . . Name\x3dOREG1488555|N/A|EGR1|PAZAR,OREG1168528|N/A|TFAP2C|PAZAR,OREG1220169|N/A|SMARCA4|PAZAR,OREG1250294|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.612887 1 +7 151372472 PRKAG2 C T 1 0.000399361 0.0016 . . . . . . . 0.0011 . intronic . 0.0008926 . . . . . . . . 0.0008 Name\x3d97.049855 1 +7 151372744 PRKAG2 A G 1 0.061901 0.0138 . MedGen:CN517202 not_provided Benign . . . 0.0152 . intronic . 0.025653 . . . . . . . . 0.0120 Name\x3d96.103704 -1 +7 151478187 PRKAG2 A G 10 0.0157748 0.0502 . . . . . . . 0.0487 . intronic . 0.0338288 . . . . . . . . 0.0491 Name\x3d96.281282 -1 +7 151478227 PRKAG2 C G 1 0.000199681 . . . . . . . . 5.537e-05 . intronic . 2.59e-05 . . . . . . . . . Name\x3d99.718785 3 +7 151483608 PRKAG2 A T 1 0.000199681 . 3.373 . . . . . . 4.448e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D D . . . Name\x3d99.857256 6 +7 151573549 PRKAG2 G A 7 0.0587061 0.0408 . MedGen:CN169374 not_specified Benign Name\x3dENSR00000219921|Promoter . . 0.0451 . intronic . 0.0548052 . . Name\x3dOREG1488557|N/A|EGR1|PAZAR,OREG1168526|N/A|TFAP2C|PAZAR . . . . . 0.0434 Name\x3d99.804895 1 +7 151573580 PRKAG2 G A 7 0.0277556 0.0809 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247|MedGen:CN517202 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|not_provided Benign/Likely_benign Name\x3dENSR00000219921|Promoter . . 0.0701 . intronic . 0.0508338 . . Name\x3dOREG1488557|N/A|EGR1|PAZAR,OREG1168526|N/A|TFAP2C|PAZAR . . . . . 0.0769 Name\x3d99.665623 -1 +7 151573731 PRKAG2 G A 26 0.188898 0.1319 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247|MedGen:CN517202 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|not_provided Benign/Likely_benign Name\x3dENSR00000219921|Promoter . . 0.1273 . UTR5 . 0.162378 . . Name\x3dOREG1488557|N/A|EGR1|PAZAR,OREG1168526|N/A|TFAP2C|PAZAR . . . . . 0.1259 Name\x3d99.865855 -1 +8 11566168 GATA4 C T 1 0.000199681 . 3.029 . . . Name\x3dENSR00000847833|Promoter . . . nonsynonymous_SNV exonic . 6.5e-06 D . Name\x3dOREG1490706|N/A|EGR1|PAZAR . P T . . . Name\x3d99.929428 5 +8 11606364 GATA4 G C 23 0.0493211 0.1876 . MedGen:C0152021,SNOMED_CT:13213009 Congenital_heart_disease Pathogenic . . . . . intronic . 0.0242494 . . Name\x3dOREG1490707|N/A|EGR1|PAZAR . . . . . . . -1 +8 11607658 GATA4 C T 1 0.00179712 0.0040 . 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 . 0.0025226 . . . . . . . . 0.0040 Name\x3d99.937562 9 +8 11607693 GATA4 C T 1 0.000599042 . 6.411 . . . . . . 7.391e-05 nonsynonymous_SNV exonic . 6.47e-05 D . . . P D . . . Name\x3d99.900424 4 +8 11612512 GATA4 C T 1 0.000199681 6.483e-05 . . . . . . . 0.0001 . intronic . 7.12e-05 . . . . . . . . . Name\x3d96.931764 3 +8 11612519 GATA4 A C 1 0.000199681 . . . . . . . . 2.242e-05 . intronic . 1.29e-05 . . . . . . . . . Name\x3d96.931764 3 +8 11612665 GATA4 A T 1 0.0233626 0.0003 . . . . Name\x3dENSR00000847839|TF_binding_site . . 0.0005 . intronic . 0.0062936 . . . . . . . . 0.0003 Name\x3d98.612892 0 +8 11612698 GATA4 C A 119 0.734425 0.5737 . MedGen:C0152021,SNOMED_CT:13213009|MedGen:CN517202 Congenital_heart_disease|not_provided Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000847839|TF_binding_site . . . . intronic rs804280|General-factor-of-neuroticism|0.01055|1E-9|PMID:30867560 0.123737 . . . . . . . . 0.5839 Name\x3d97.533169 2 +8 11614575 GATA4 A G 21 0.0429313 0.1589 0.793 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign Name\x3dENSR00000847840|TF_binding_site . . 0.1328 nonsynonymous_SNV exonic . 0.0944554 T . . . B T . . 0.14 Name\x3d99.865437 -2.5 +8 11616015 GATA4 C T 1 0.000199681 0.0006 . . . . . . . 0.0001 . UTR3 . 0.0001294 . . . . . . . . 0.0001 Name\x3d99.602493 1 +8 74888494 TMEM70 C T 61 0.216653 0.2985 . MedGen:CN239153 Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign Name\x3dENSR00000225937|Promoter . . 0.3696 . UTR5 . 0.254518 . . Name\x3dOREG1275624|N/A|SMARCA4|PAZAR,OREG1243960|N/A|SMARCA4|PAZAR,OREG1483664|N/A|E2F4|PAZAR . . . . . 0.2945 Name\x3d98.505951 1 +8 74888616 TMEM70 G C 42 0.176118 0.1276 2.230 MedGen:CN169374|MedGen:CN239153|MedGen:CN517202 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided Benign Name\x3dENSR00000225937|Promoter . . 0.1656 nonsynonymous_SNV exonic . 0.0007309 T . Name\x3dOREG1483664|N/A|E2F4|PAZAR,OREG1275624|N/A|SMARCA4|PAZAR,OREG1243960|N/A|SMARCA4|PAZAR . D T . . 0.1301 Name\x3d99.798051 1 +8 74890961 TMEM70 A G 106 0.477835 0.4486 . . . . Name\x3dENSR00000225937|Promoter . . 0.4595 . intronic . 0.0025679 . . . . . . . . 0.4551 . -1 +8 74890985 TMEM70 C T 2 0.000599042 0.0035 . MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Conflicting_interpretations_of_pathogenicity Name\x3dENSR00000225937|Promoter . . 0.0042 . intronic . 0.002859 . . . . . . . 0.008 0.0040 Name\x3d98.973845 2 +8 74891164 TMEM70 A G 42 0.186102 0.1276 . . . . Name\x3dENSR00000225937|Promoter . . . . intronic . 0.0274964 . . . . . . . . . . -1 +8 74893419 TMEM70 C G 3 0.0227636 0.0215 -2.907 MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153|MedGen:CN517202 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided Benign/Likely_benign . . . 0.0206 nonsynonymous_SNV exonic . 0.0223218 T . . . B T . . 0.0177 Name\x3d99.302981 0.5 +8 74893653 TMEM70 G A 5 0.0071885 0.0172 0.759 MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN517202 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|not_provided Benign . . Name\x3dMIMAT0000432|hsa-miR-141-3p|Experimental,MIMAT0002816|hsa-miR-494-3p|Experimental,MIMAT0000682|hsa-miR-200a-3p|Experimental 0.0174 nonsynonymous_SNV exonic . 0.0122896 T . . . P D . . 0.0156 Name\x3d99.338101 0 +8 74893727 TMEM70 A G 1 0.000199681 0.0003 . . . . . . Name\x3dMIMAT0000426|hsa-miR-132-3p|Experimental 0.0002 synonymous_SNV exonic . 9.06e-05 . . . . . . . . . Name\x3d99.245887 4 +8 74893821 TMEM70 A G 45 0.258986 0.1503 -3.329 MedGen:CN169374|MedGen:CN239153|MedGen:CN517202 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided Benign . . . 0.1586 nonsynonymous_SNV exonic . 0.195114 T . . . B T . . 0.1556 Name\x3d98.679883 0.5 +8 74893839 TMEM70 C T 1 0.000199681 . -1.050 . . . . . . 5.561e-05 nonsynonymous_SNV exonic . 2.59e-05 T . . . B T . . . Name\x3d98.653535 4.5 +8 74893850 TMEM70 C G 45 0.258986 0.1503 -1.736 MedGen:CN169374|MedGen:CN239153|MedGen:CN517202 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type|not_provided Benign . . . 0.1589 nonsynonymous_SNV exonic . 0.192999 T . . . B T . . 0.1556 Name\x3d98.677492 0.5 +8 74893880 TMEM70 C T 106 0.47504 0.4498 . MedGen:CN239153 Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign . . Name\x3dMIMAT0000418|hsa-miR-23b-3p|Experimental,MIMAT0000078|hsa-miR-23a-3p|Experimental 0.4710 . UTR3 . 0.459774 . . . . . . . . 0.4513 Name\x3d95.799980 0 +9 7161999 KDM4C A C 6 0.00599042 0.0156 . . . . . . . . . intronic . 0.0121024 . . . . . . . . . . -2 +9 7162001 KDM4C CT C 2 0.000798722 0.0011 . . . . . . . . . intronic . 0.0003074 . . . . . . . . . . 0 +9 7162074 KDM4C A C 5 0.0061901 0.0123 . . . . . . . . . intronic . 0.0112571 . . . . . . . . . . -2 +9 7162249 KDM4C C G 1 0.000199681 . . . . . . . . . . intronic . 3.84e-05 . . . . . . . . . . 2 +9 7162351 KDM4C G A 73 0.126797 0.1884 . . . . . . . . . intronic . 0.167704 . . . . . . . . . . -2 +9 7162437 KDM4C G A 1 0.000199681 0.0005 . . . . . . . . . intronic . 0.0006147 . . . . . . . . . . 0 +9 71650692 FXN G A 9 0.00758786 0.0292 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign Name\x3dENSR00000235547|Promoter . . 0.0262 . UTR5 . 0.0045601 . . Name\x3dOREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1187779|N/A|TFAP2C|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.411050 3 +9 71650752 FXN A G 214 0.984824 0.9999 . MedGen:C1856689,OMIM:229300|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Friedreich_ataxia_1|not_specified|Cardiovascular_phenotype|not_provided Benign Name\x3dENSR00000235547|Promoter . . 1 synonymous_SNV exonic . 0.273865 . . Name\x3dOREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1187779|N/A|TFAP2C|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR . . . . . . Name\x3d99.530374 -1 +9 71650878 FXN C T 1 0.00119808 . . . . . Name\x3dENSR00000235547|Promoter . . . . intronic . 0.0001164 . . Name\x3dOREG1187779|N/A|TFAP2C|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR,OREG1481069|N/A|E2F4|PAZAR,OREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1551842|N/A|ETS1|PAZAR . . . . . . Name\x3d99.574388 5 +9 71650906 FXN G GGCCGCAC 4 0.00339457 0.0096 . . . . Name\x3dENSR00000235547|Promoter . . . . intronic . 0.0004722 . . Name\x3dOREG1551842|N/A|ETS1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1900099|N/A|STAT1|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR,OREG1187779|N/A|TFAP2C|PAZAR . . . . . . Name\x3d99.638668 9 +9 71661314 FXN G A 1 0.00179712 . -0.060 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity . . . 1.865e-05 nonsynonymous_SNV exonic . 0.0002975 T . . . B T . . . Name\x3d98.940842 8.5 +9 71667986 FXN G A 86 0.349241 0.4445 . . . . . . . . . intronic . 0.0001153 . . . . . . . . . Name\x3d95.008776 1 +9 71668197 FXN T C 120 0.501597 0.5127 . . . . . . . 0.5329 . intronic . 0.513253 . . . . . . . . 0.5149 Name\x3d97.951041 1 +9 71680034 FXN C T 1 0.000998403 0.0016 . . . . . . . . . intronic . 0.0004334 . . . . . . . . . . 2 +9 71687440 FXN C T 91 0.467053 0.3999 . . . . . . . . . intronic . 0.0843585 . . . . . . . . . . 0 +9 71687451 FXN G A 1 0.000998403 0.0033 . . . . . . . . . intronic . 0.0003622 . . . . . . . . . Name\x3d95.314843 3 +9 103340369 CAVIN4 G A 84 0.302915 0.4305 . . . . Name\x3dENSR00000888957|Promoter . . . . UTR5 . 0.0763574 . . . . . . . . . . 0 +9 103340875 CAVIN4 T C 65 0.210663 0.3442 . . . . Name\x3dENSR00000888957|Promoter . . 0.3237 . intronic . 0.281607 . . . . . . . . 0.3068 . 0 +9 103348157 CAVIN4 G C 1 0.000199681 0.0006 . MedGen:CN169374 not_specified Likely_benign . . . 0.0007 synonymous_SNV exonic . 0.0003687 . . . . . . . . 0.0005 Name\x3d98.166246 1 +9 103348208 CAVIN4 A T 4 0.117812 0.0216 . MedGen:CN169374 not_specified Benign . . . 0.0244 synonymous_SNV exonic . 0.0598957 . . . . . . . . 0.0236 Name\x3d98.394332 -1 +9 103348340 CAVIN4 A G 2 0.000998403 . . . . . . . . . synonymous_SNV exonic . 0.0003752 . . . . . . . . . Name\x3d98.012559 1 +9 103348343 CAVIN4 G A 2 0.000998403 . . . . . . . . . synonymous_SNV exonic . 0.0002846 . . . . . . . . . Name\x3d98.325290 1 +9 103348352 CAVIN4 A G 2 0.00119808 . . . . . . . . . synonymous_SNV exonic . 0.0002523 . . . . . . . . . Name\x3d98.428835 1 +9 103348538 CAVIN4 C T 1 0.000199681 0.0002 . . . . . . . 0.0003 synonymous_SNV exonic . 0.0002005 . . . . . . . . 0.0005 Name\x3d95.576170 1 +9 103348634 CAVIN4 G A 84 0.293331 0.4275 . MedGen:CN169374 not_specified Benign . . . 0.4021 synonymous_SNV exonic . 0.370396 . . . . . . . . 0.4166 Name\x3d95.267874 1 +9 108363426 FKTN C T 8 0.0103834 0.0245 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 . . . 0.0389 nonsynonymous_SNV exonic . 0.0183503 D . . . D D 0.9959 0.826 0.0283 Name\x3d99.186017 12 +9 108366499 FKTN G A 1 0.0371406 0.0107 1.784 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|not_provided Benign . . . 0.0106 nonsynonymous_SNV exonic . 0.015569 T . . . P T . . 0.0114 Name\x3d99.128450 -1.5 +9 108366734 FKTN G A 55 0.158147 0.3227 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 . . . 0.3049 nonsynonymous_SNV exonic . 0.248975 T . . . P T . . 0.3190 Name\x3d99.339457 1.5 +9 108370163 FKTN C G 1 0.000199681 . 2.079 . . . . . Name\x3dMIMAT0000093|hsa-miR-93-5p|Experimental . nonsynonymous_SNV exonic . 6.5e-06 T . . . B T . . . Name\x3d99.048201 7.5 +9 108380223 FKTN T A 2 0.000399361 . . . . . . . . 0.0003 . intronic . 9.06e-05 . . . . . . . . . . 4 +9 108380355 FKTN C A 55 0.178315 0.3218 . 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|MedGen:CN517202 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|not_provided Benign/Likely_benign . . . 0.3055 synonymous_SNV exonic . 0.0016688 . . . . . . . . 0.3177 Name\x3d98.998867 -1 +9 108380417 FKTN A G 4 0.0113818 0.0384 . MedGen:CN169374 not_specified Benign . . . 0.0406 . intronic . 0.0275288 . . . . . . . . 0.0375 . 0 +9 108397426 FKTN T C 1 0.000199681 . 6.116 . . . . . . 1.84e-05 nonsynonymous_SNV exonic . 1.29e-05 D . . . D D . . . Name\x3d99.295213 11 +9 131707989 DOLK G A 1 0.000199681 . 1.384 . . . . . Name\x3dMIMAT0000414|hsa-let-7g-5p|Experimental,MIMAT0000062|hsa-let-7a-5p|Experimental,MIMAT0000067|hsa-let-7f-5p|Experimental,MIMAT0000065|hsa-let-7d-5p|Experimental,MIMAT0000064|hsa-let-7c-5p|Experimental,MIMAT0000066|hsa-let-7e-5p|Experimental,MIMAT0000063|hsa-let-7b-5p|Experimental,MIMAT0000096|hsa-miR-98-5p|Experimental 1.84e-05 nonsynonymous_SNV exonic . 1.94e-05 D . . . D T . . . Name\x3d97.807201 9 +9 131708145 DOLK T C 1 0.000199681 0.0001 0.079 MedGen:CN517202 not_provided Uncertain_significance . . . 5.52e-05 nonsynonymous_SNV exonic . 9.06e-05 T . . . B T . . 0.0001 Name\x3d98.425746 6.5 +9 131708504 DOLK T C 1 0.000798722 0.0005 3.446 MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374 Congenital_disorder_of_glycosylation_type_1M|not_specified Likely_benign . . . 0.0018 nonsynonymous_SNV exonic . 0.0013325 T . . . D D . . 0.0009 Name\x3d98.593310 6 +9 131708883 DOLK T C 1 0.000998403 0.0018 -0.828 MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374|MedGen:CN517202 Congenital_disorder_of_glycosylation_type_1M|not_specified|not_provided Uncertain_significance Name\x3dENSR00000241930|Promoter . . 0.0020 nonsynonymous_SNV exonic . 0.0011643 T . Name\x3dOREG1253658|N/A|SMARCA4|PAZAR . B T . . 0.0014 Name\x3d97.681988 6.5 +9 131709581 DOLK A AT 1 0.00259585 0.0097 . MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374|MedGen:CN517202 Congenital_disorder_of_glycosylation_type_1M|not_specified|not_provided Benign/Likely_benign Name\x3dENSR00000241930|Promoter . . 0.0139 frameshift_insertion exonic . 0.0001552 . . Name\x3dOREG1253658|N/A|SMARCA4|PAZAR,OREG1792595|N/A|RBL2|PAZAR,OREG1492173|N/A|EGR1|PAZAR,OREG1171895|N/A|TFAP2C|PAZAR,OREG1223386|N/A|SMARCA4|PAZAR,OREG1798525|N/A|RBL2|PAZAR . . . . . 0.0092 Name\x3d98.197933 11
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/VINYL_input2.tabular Wed Jul 15 07:55:47 2020 +0000 @@ -0,0 +1,3740 @@ +chr start ref alt Nhom Nhet Nind Gene ScoreG ScoreCV ScoreOth ScoreAF ScoreEff ScoreSP ScoreTF Scoremir ScoreREG ScoreGWAS ScoreNS ScoreQTL ScoreNi ScoreT +10 18429624 C A 1 0 11 CACNB2 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +10 18429627 C T 0 0 1 CACNB2 0 0 0 2 0 0 1 1 1 0 0 0 0 5 +10 18429839 C T 0 0 1 CACNB2 0 0 0 0 0 0 1 1 1 0 0 0 0 3 +10 18430167 G C 2 0 9 CACNB2 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +10 18430169 G T 0 0 1 CACNB2 0 0 0 0 0 0 1 1 1 0 0 0 0 3 +10 18430220 G A 5 0 34 CACNB2 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +10 18439747 C T 1 0 31 CACNB2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 18439784 CTTTTTTT C 0 0 7 CACNB2 0 -2 0 -2 0 0 0 0 0 0 0 0 0 -4 +10 18439900 G A 0 0 1 CACNB2 0 0 0 0 0 0 0 1 0 0 3 0 0 4 +10 18439926 T C 3 0 27 CACNB2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 18439993 A C 0 0 3 CACNB2 0 0 0 0 0 0 0 0 0 0 0 0 4 4 +10 18691018 G A 28 0 116 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 18691019 C A 0 0 2 CACNB2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +10 18787308 C T 0 0 1 CACNB2 0 0 0 2 0 0 0 1 0 0 6 0 0 9 +10 18787448 C G 0 0 1 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 18787485 G A 0 0 2 CACNB2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +10 18789724 T G 17 0 79 CACNB2 0 -4 0 -2 0 0 0 1 0 0 0 0 0 -5 +10 18789924 C G 0 0 1 CACNB2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +10 18795351 G T 0 0 1 CACNB2 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +10 18795447 G C 0 0 2 CACNB2 0 4 4 0 0 0 0 1 0 0 0 0 0 9 +10 18795555 G A 0 0 1 CACNB2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +10 18795596 G A 18 0 82 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 2 0 1 +10 18803338 A G 0 0 4 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 18804094 T C 14 0 86 CACNB2 0 0 0 -2 0 0 0 1 0 0 0 2 0 1 +10 18807246 G T 0 0 1 CACNB2 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +10 18816565 G A 0 0 1 CACNB2 0 4 4 -2 0 0 0 1 0 0 0 0 0 7 +10 18816633 C T 1 0 27 CACNB2 0 0 -2 -2 0 0 0 1 0 0 0 0 0 -3 +10 18822993 C T 0 0 1 CACNB2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +10 18825201 T G 0 0 4 CACNB2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 18825202 TGG GGG,T 39 4 4 CACNB2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 18825203 G T 0 0 12 CACNB2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 18825204 G T 0 0 12 CACNB2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 18827336 T C 0 0 1 CACNB2 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +10 18828191 C T 0 0 2 CACNB2 0 -2 -2 0 0 0 0 1 0 0 0 0 0 -3 +10 18828230 T C 0 0 2 CACNB2 0 4 4 0 0 0 0 1 0 0 0 0 0 9 +10 18828371 C T 1 0 26 CACNB2 0 0 -2 -2 0 0 0 1 0 0 0 0 0 -3 +10 18828455 C T 0 0 1 CACNB2 0 -2 -2 0 0 0 0 1 0 0 0 0 0 -3 +10 18828486 C G 0 0 1 CACNB2 0 4 4 -2 0 0 0 1 0 0 3 0 0 10 +10 18828561 A G 0 0 1 CACNB2 0 0 0 2 0 0 0 1 0 0 3 0 0 6 +10 18828635 T G 11 0 53 CACNB2 0 0 -2 -2 0 0 0 1 0 0 0 0 0 -3 +10 18828645 C T 0 0 1 CACNB2 0 -2 -2 0 0 0 0 1 0 0 3 0 0 0 +10 18828663 G T 68 0 173 CACNB2 0 -2 -2 -2 0 0 0 1 0 0 0 1 0 -4 +10 18828670 T C 5 0 47 CACNB2 0 0 -2 -2 0 0 0 1 0 0 0 0 0 -3 +10 21074724 T C 0 0 12 NEBL 2.0 0 -4 -2 0 0 0 1 0 0 0 0 0 -3 +10 21076080 A C 0 0 1 NEBL 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +10 21076100 C A 1 0 12 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21076285 C G 1 0 22 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21076307 C T 10 0 64 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21097556 G A 0 0 1 NEBL 2.0 0 0 2 8 0 0 1 0 0 0 0 0 13 +10 21098878 G A 0 0 17 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21098879 G A 0 0 43 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21101734 T C 0 0 2 NEBL 2.0 0 -2 0 0 0 0 1 0 0 1.5 0 0 2.5 +10 21104492 C T 0 0 2 NEBL 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 21104694 A T 18 0 90 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21108377 C T 3 0 57 NEBL 2.0 0 -4 -2 0 0 0 1 0 0 0 0 0 -3 +10 21112068 G T 0 0 1 NEBL 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 21112111 A T 4 0 55 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21112137 A T 0 0 11 NEBL 2.0 0 -4 -2 0 0.5 0 0 0 0 1.5 0 0 -2 +10 21112258 A C 0 0 1 NEBL 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 21115332 T C 18 0 91 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21115347 A G 0 0 4 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21115491 G T 0 0 1 NEBL 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +10 21117573 T A 0 0 1 NEBL 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +10 21120116 A G 13 0 74 NEBL 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +10 21129588 T C 1 0 19 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21134282 C G 1 0 19 NEBL 2.0 0 -4 -2 0 0 0 2 0 0 3 0 0 1 +10 21139389 T C 1 0 19 NEBL 2.0 0 -4 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +10 21141398 G A 0 0 5 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21141429 G A 0 0 1 NEBL 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 21141440 AG A 4 0 53 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21141469 T C 107 0 214 NEBL 2.0 0 -4 -2 0 0 0 0 0 0 0 0 0 -4 +10 21147144 G A 0 0 2 NEBL 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +10 21148584 C A 46 0 141 NEBL 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +10 21157673 C T 0 0 1 NEBL 2.0 0 4 0 0 0 0 1 0 0 1.5 0 0 8.5 +10 21157763 CAA CA,C 52 17 1 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21157774 AAAAT A 0 0 1 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21158728 C T 0 0 1 NEBL 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +10 21176945 G A 90 0 196 NEBL 2.0 0 0 -2 0 0 0 0 1 0 0 0 0 1 +10 21177128 G C 0 0 1 NEBL 2.0 0 4 0 8 0 0 1 1 0 0 0 0 16 +10 21177143 GA GAA,G 0 0 1 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21177156 GA G 46 0 141 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21178948 A T 0 0 1 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21185821 A C 107 0 214 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21185931 A G 0 0 1 NEBL 2.0 0 -4 0 0 0 0 1 0 0 0 0 0 -1 +10 21185974 G A 0 0 1 NEBL 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +10 21250698 T C 0 0 1 NEBL 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +10 21309211 C T 0 0 5 NEBL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 21461232 G A 1 0 30 NEBL 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +10 21461237 T A 0 0 1 NEBL 2.0 0 0 2 0 0 1 0 0 0 0 0 0 5 +10 21461410 G GA 0 0 53 NEBL 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +10 21462769 G A 0 0 3 NEBL 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +10 21462878 G A 0 0 3 NEBL 2.0 0 0 -2 0 0 1 0 1 0 0 0 0 2 +10 67726514 A C 8 0 56 CTNNA3 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 67748412 G A 0 0 1 CTNNA3 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +10 68040240 G T 0 0 4 CTNNA3 0 -4 0 -2 0 0 0 1 0 0 0 0 0 -5 +10 68040325 C T 11 0 80 CTNNA3 0 0 0 -2 0 0 0 1 0 0 1.5 0 0 0.5 +10 68139038 C T 0 0 1 CTNNA3 0 0 0 2 0 0 0 1 1 0 0 0 0 4 +10 68139039 G A 0 0 1 CTNNA3 0 -4 0 -2 0 0 0 1 1 0 0 0 0 -4 +10 68139142 G A 4 0 39 CTNNA3 0 0 0 -2 0 0 0 0 1 0 0 0 0 -1 +10 68381592 T C 0 0 3 CTNNA3 0 0 0 0 0 0 0 0 0 0 0 0 4 4 +10 68381615 A T 0 0 1 CTNNA3 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +10 68535233 A G 0 0 1 CTNNA3 0 0 0 2 0 0 0 1 0 0 3 0 0 6 +10 68979342 A T 0 0 1 CTNNA3 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +10 68979343 C G 0 0 14 CTNNA3 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 68979636 G A 0 0 1 CTNNA3 0 -4 0 0 0 0 0 1 0 0 0 0 0 -3 +10 69281585 A C 1 0 18 CTNNA3 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 69281701 A T 0 0 7 CTNNA3 0 -4 0 -2 0 0 0 1 0 0 0 0 0 -5 +10 69281732 A G 0 0 15 CTNNA3 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 69299192 C T 0 0 5 CTNNA3 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +10 69299372 T G 0 0 4 CTNNA3 0 -4 0 -2 0 0 0 1 0 0 0 0 0 -5 +10 69299446 T A 1 0 24 CTNNA3 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 69366602 T C 4 0 58 CTNNA3 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +10 69407239 G A 0 0 1 CTNNA3 0 -4 0 0 0 0 0 1 0 0 0 0 0 -3 +10 69407254 T A 0 0 1 CTNNA3 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +10 69882040 A G 0 0 1 MYPN 2.0 0 0 2 0 0 0 1 0 0 6 0 0 11 +10 69902919 T C 0 0 4 MYPN 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +10 69905300 G A 2 0 28 MYPN 2.0 -4 0 -2 0 0 0 1 0 0 0 0 0 -3 +10 69905411 T C 0 0 1 MYPN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 69908063 A T 1 0 6 MYPN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 69908157 T C 1 0 6 MYPN 2.0 -4 -4 -2 0 0 0 1 0 0 1.5 0 0 -5.5 +10 69908241 G A 1 0 22 MYPN 2.0 -4 0 -2 0 0 1 0 0 0 0 0 0 -3 +10 69909756 T C 1 0 4 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69909802 G A 1 0 14 MYPN 2.0 0 -4 -2 0 0 0 1 0 0 0 0 0 -3 +10 69909844 C A 0 0 1 MYPN 2.0 -2 -2 0 0 0 0 1 0 0 0 0 0 -1 +10 69909899 G A 2 0 15 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69918442 CACTT C 1 0 4 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69925596 G C 0 0 1 MYPN 2.0 -4 0 -2 0 0 0 1 0 0 0 0 0 -3 +10 69926097 T C 43 0 140 MYPN 2.0 0 -4 -2 0 0 0 1 0 0 0 0 0 -3 +10 69926319 C A 7 0 49 MYPN 2.0 0 -4 -2 0 0 0 1 0 0 0 0 0 -3 +10 69926325 C T 9 0 53 MYPN 2.0 0 -4 -2 0 0 0 1 0 0 0 0 0 -3 +10 69926334 C G 19 0 87 MYPN 2.0 0 -4 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +10 69933921 G A 19 0 85 MYPN 2.0 0 -4 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +10 69933969 G A 19 0 85 MYPN 2.0 0 -4 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +10 69934012 C A 1 0 4 MYPN 2.0 -4 -4 -2 0 0 0 1 0 0 0 0 0 -7 +10 69934258 C G 24 0 108 MYPN 2.0 0 -4 -2 0 0 0 1 0 0 0 0 0 -3 +10 69934259 G A 0 0 4 MYPN 2.0 -4 -4 -2 0 0 0 1 0 0 0 0 0 -7 +10 69934467 A G 64 0 164 MYPN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 69935059 A G 43 0 139 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69935062 T G 0 0 1 MYPN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 69935235 T C 107 0 214 MYPN 2.0 -4 0 -2 0 0 0 1 0 0 0 0 0 -3 +10 69948844 T C 107 0 214 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69948892 G C 0 0 2 MYPN 2.0 -4 0 -2 0 0 0 1 0 0 0 0 0 -3 +10 69954090 A G 0 0 4 MYPN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 69954290 G A 20 0 85 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69954301 C T 3 0 42 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 2 0 3 +10 69955140 T A 38 0 131 MYPN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 69957279 T G 0 0 1 MYPN 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +10 69959097 G T 48 0 145 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69959174 C T 0 0 2 MYPN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +10 69959242 C A 20 0 85 MYPN 2.0 -4 -4 -2 0 0 0 1 0 0 3 0 0 -4 +10 69959281 G C 0 0 1 MYPN 2.0 0 0 2 0 0 0 1 0 0 6 0 0 11 +10 69959345 GCTGGGA G 20 0 85 MYPN 2.0 -4 -4 -2 0 0 0 1 0 0 0 0 0 -7 +10 69959397 G A 20 0 85 MYPN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 69961805 G A 0 0 3 MYPN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +10 69966602 G A 0 0 2 MYPN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +10 69969986 C T 12 0 77 MYPN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 69969987 G A 0 0 2 MYPN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 75834538 C T 0 0 1 VCL 2.0 -2 -2 0 0 0 0 2 0 0 0 0 0 0 +10 75842152 G A 11 0 71 VCL 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 75843100 T A 27 0 108 VCL 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 75849921 T C 0 0 1 VCL 2.0 -4 -4 0 0 0 0 1 0 0 0 0 0 -5 +10 75849991 C A 0 0 1 VCL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 75855541 C T 0 0 1 VCL 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +10 75863750 C T 65 0 167 VCL 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 75865065 G A 40 0 132 VCL 2.0 0 -2 -2 0 0 0 2 0 0 0 0 0 0 +10 75865095 A G 0 0 7 VCL 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +10 75865159 C T 0 0 16 VCL 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 75866929 C A 41 0 133 VCL 2.0 0 0 -2 0 0 1 1 0 0 0 1 0 3 +10 75871735 C G 68 0 170 VCL 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +10 75873892 C T 41 0 133 VCL 2.0 0 0 -2 0 0 0 1 1 0 0 1 0 3 +10 75873920 C G 0 0 1 VCL 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +10 75874190 T C 0 0 2 VCL 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 75874192 T C 34 0 126 VCL 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 75874667 A T 0 0 1 VCL 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +10 88439094 G A 0 0 1 LDB3 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +10 88439175 G C 0 0 1 LDB3 2.0 0 0 2 0 0 1 1 0 0 3 0 0 9 +10 88439866 G A 0 0 1 LDB3 2.0 0 -2 0 0 0 0 1 0 0 0 0 0 1 +10 88440018 G A 0 0 9 LDB3 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 88441223 G A 0 0 2 LDB3 2.0 0 -2 0 0 0 1 1 0 0 1.5 0 0 3.5 +10 88441269 C T 0 0 1 LDB3 2.0 0 0 2 0 0 1 1 0 0 1.5 0 0 7.5 +10 88441437 C T 0 0 2 LDB3 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +10 88441527 G A 0 0 1 LDB3 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +10 88445385 G C 54 0 150 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88446811 G A 0 0 9 LDB3 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +10 88446830 G A 0 0 2 LDB3 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +10 88446985 T C 0 0 9 LDB3 2.0 0 -2 -2 0 0 0 1 0 0 0 1 0 0 +10 88447076 A T 0 0 2 LDB3 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 88447082 A C 0 0 9 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +10 88451649 A G 0 0 2 LDB3 2.0 0 4 0 0 0 0 1 0 0 0 0 0 7 +10 88451715 A G 0 0 1 LDB3 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +10 88451869 G C 2 0 34 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88452190 G A 0 0 1 LDB3 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 88452258 G A 0 0 6 LDB3 2.0 0 0 0 0 0 0 1 0 0 0 0 8.0 11 +10 88458996 TTCTCTCTC CTCTCTCTC,TTCTCTC,TTCTC,TTC,T 6 36 6 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88459000 C G 0 0 2 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88459002 C T 0 0 2 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88459050 G A 0 0 1 LDB3 2.0 0 4 0 0 0 1 1 0 0 0 0 0 8 +10 88459055 G A 0 0 1 LDB3 2.0 0 0 2 0 0 1 1 0 0 1.5 0 0 7.5 +10 88459066 C T 0 0 1 LDB3 2.0 0 0 2 0 0 1 1 0 0 3 0 0 9 +10 88466465 C T 0 0 12 LDB3 2.0 0 -4 -2 0 0 0 1 0 0 0 0 0 -3 +10 88469831 G A 0 0 2 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88469837 C G 0 0 6 LDB3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 88476105 C G 0 0 1 LDB3 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +10 88477932 CAT C 0 0 1 LDB3 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 88485858 C T 0 0 2 LDB3 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 92672564 T C 24 0 92 ANKRD1 2.0 0 -2 -2 0 0 0 0 0 0 0 0 0 -2 +10 92675649 GA G 4 0 39 ANKRD1 2.0 0 -2 -2 0 0 0 0 0 0 0 0 0 -2 +10 92675857 G A 3 0 16 ANKRD1 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 92678728 G A 0 0 1 ANKRD1 2.0 0 0 0 0 1 0 1 1 0 1.5 0 0 6.5 +10 92678744 A T 70 0 170 ANKRD1 2.0 0 -2 -2 0 0 0 0 1 0 0 0 0 -1 +10 92678747 A G 24 0 92 ANKRD1 2.0 0 0 -2 0 0 0 0 1 0 0 0 0 1 +10 92678748 A T 69 0 169 ANKRD1 2.0 0 0 -2 0 0 0 0 1 0 0 0 0 1 +10 92678761 A C 0 0 4 ANKRD1 2.0 0 0 0 0 0 0 0 1 0 0 0 4 7 +10 92678762 T A 0 0 4 ANKRD1 2.0 0 0 0 0 0 0 0 1 0 0 0 4 7 +10 92678764 T A 0 0 4 ANKRD1 2.0 0 0 0 0 0 0 0 1 0 0 0 4 7 +10 92678765 A G 42 0 112 ANKRD1 2.0 0 0 -2 0 0 0 0 1 0 0 0 0 1 +10 92678789 T C 0 0 5 ANKRD1 2.0 0 0 0 0 0 0 0 1 0 0 0 8.0 11 +10 92680886 G A 0 0 1 ANKRD1 2.0 0 0 0 0 0 1 1 1 0 0 0 0 5 +10 101473218 A G 82 0 188 COX15 0 0 0 -2 0 0 0 0 0 0 1.5 0 0 -0.5 +10 101474499 T C 5 0 50 COX15 0 0 0 -2 0 0 0 0 0 0 0 1 0 -1 +10 101487354 G T 0 0 1 COX15 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +10 112404302 G A 1 0 32 RBM20 2.0 0 -2 -2 0 0 0 1 1 0 0 0 0 0 +10 112541062 G A 0 0 1 RBM20 2.0 -2 -2 -2 0 0 1 1 0 0 3 0 0 1 +10 112541073 T C 0 0 1 RBM20 2.0 0 0 2 0 0 1 1 0 0 1.5 0 0 7.5 +10 112541335 A G 0 0 1 RBM20 2.0 0 0 2 0 0 1 1 0 0 1.5 0 0 7.5 +10 112541676 T C 9 0 52 RBM20 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 112541678 G A 9 0 52 RBM20 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 112543217 G A 52 0 153 RBM20 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 112544042 T C 0 0 1 RBM20 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +10 112544063 A C 30 0 109 RBM20 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 112544244 G A 0 0 2 RBM20 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 112544505 G T 0 0 4 RBM20 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +10 112544655 C T 3 0 41 RBM20 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +10 112559490 C A 0 0 1 RBM20 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +10 112559652 G A 0 0 1 RBM20 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +10 112570130 G C 0 0 5 RBM20 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +10 112570147 G A 0 0 1 RBM20 2.0 0 0 2 0 0 0 1 0 0 6 0 0 11 +10 112570243 T C 18 0 91 RBM20 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +10 112572147 C T 0 0 1 RBM20 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +10 112572458 G C 107 0 214 RBM20 2.0 -2 -2 -2 0 0 1 1 1 0 1.5 0 0 0.5 +10 112579791 C T 0 0 1 RBM20 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +10 112583178 ATGTTGTATTTCTT A 0 0 1 RBM20 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +10 112583294 G A 0 0 3 RBM20 2.0 -2 -2 -2 0 0 1 1 0 0 0 0 0 -2 +10 112590778 G C 0 0 1 RBM20 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 112590810 G C 107 0 214 RBM20 2.0 -2 -2 -2 0 0 0 0 0 0 0 0 0 -4 +10 112590980 C T 0 0 1 RBM20 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +10 112595719 G C 69 0 172 RBM20 2.0 -2 -2 -2 0 0 0 1 1 0 3 0 0 1 +10 121429394 G A 0 0 7 BAG3 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +10 121429412 C T 0 0 1 BAG3 2.0 4 0 0 0 0 0 1 0 0 1.5 0 0 8.5 +10 121429633 T C 2 0 34 BAG3 2.0 0 -4 -2 0 0 0 1 0 1 0 0 0 -2 +10 121429645 G A 0 0 2 BAG3 2.0 -2 -2 0 0 0 0 1 0 0 1.5 0 0 0.5 +10 121432040 C T 0 0 1 BAG3 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +10 121435955 A C 60 0 164 BAG3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +10 121436068 T G 0 0 23 BAG3 2.0 0 -4 -2 0 0 0 1 0 0 0 0 0 -3 +10 121436100 A T 0 0 1 BAG3 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +10 121436286 C T 0 0 23 BAG3 2.0 0 -4 -2 0 0 0 1 0 0 0 0 0 -3 +10 121436362 A G 69 0 176 BAG3 2.0 0 -4 -2 0 0 0 2 0 0 0 0 0 -2 +11 533415 G A 0 0 1 HRAS 0 0 0 0 0 0 1 1 0 0 0 0 0 2 +11 533546 G A 0 0 2 HRAS 0 0 0 0 0 0 1 1 0 0 1.5 0 0 3.5 +11 533664 T A 0 0 2 HRAS 0 0 0 2 0 0 1 1 0 0 0 0 0 4 +11 533821 G C 0 0 1 HRAS 0 0 0 2 0 0 1 1 1 0 1.5 0 0 6.5 +11 534197 C T 1 0 14 HRAS 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +11 534242 A G 8 0 69 HRAS 0 0 0 -2 0 0 1 1 1 0 0 2 0 3 +11 534332 G A 0 0 7 HRAS 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +11 2466274 G C 0 0 1 KCNQ1 2.0 0 0 2 0 0 1 1 1 0 0 0 0 7 +11 2466501 C T 0 0 1 KCNQ1 2.0 0 0 2 0 0 1 1 1 0 3 0 0 10 +11 2549229 C T 0 0 1 KCNQ1 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +11 2549230 G A 0 0 1 KCNQ1 2.0 0 -2 0 0 0 0 1 0 0 0 0 0 1 +11 2549257 C T 0 0 1 KCNQ1 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +11 2549329 TGG T 34 0 118 KCNQ1 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +11 2591802 T G 0 0 1 KCNQ1 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +11 2591893 C T 0 0 1 KCNQ1 2.0 0 -2 0 0 0 0 1 0 0 0 0 0 1 +11 2592033 G A 0 0 1 KCNQ1 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +11 2593185 C T 0 0 1 KCNQ1 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +11 2593416 A G 7 0 58 KCNQ1 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +11 2594037 C T 0 0 1 KCNQ1 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +11 2594106 C T 0 0 1 KCNQ1 2.0 0 -2 0 0 0 0 1 0 0 0 0 0 1 +11 2594268 T G 0 0 3 KCNQ1 2.0 0 0 0 0 0 0 0 0 0 0 0 4 6 +11 2606519 G A 0 0 1 KCNQ1 2.0 0 -2 2 0 0 0 1 0 0 0 0 0 3 +11 2606621 C T 0 0 8 KCNQ1 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +11 2609919 A G 0 0 1 KCNQ1 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +11 2683152 T G 1 0 38 KCNQ1OT1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +11 2683177 C T 0 0 4 KCNQ1OT1 0 0 -2 -2 0 0 0 1 0 0 0 0 0 -3 +11 2683329 C T 0 0 2 KCNQ1OT1 0 -4 0 -2 0 0 0 1 0 0 0 0 0 -5 +11 2683357 A G 23 0 88 KCNQ1OT1 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +11 2683361 C G 0 0 1 KCNQ1OT1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +11 2790019 G A 0 0 8 KCNQ1 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +11 2790163 T C 4 0 41 KCNQ1 2.0 -2 -2 -2 0 0 0 0 0 0 0 0 0 -4 +11 2797197 G A 0 0 1 KCNQ1 2.0 0 0 2 0 0 1 1 0 0 3 0 0 9 +11 2797237 G A 4 0 35 KCNQ1 2.0 0 -4 -2 0 0 1 1 0 0 0 0 0 -2 +11 2797320 A G 52 0 149 KCNQ1 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +11 2798305 T C 8 0 54 KCNQ1 2.0 0 0 -2 0 0 1 0 1 0 0 0 0 2 +11 2798341 C T 0 0 1 KCNQ1 2.0 0 0 2 0 0 1 0 1 0 0 0 0 6 +11 2799211 A G 0 0 1 KCNQ1 2.0 0 0 2 0 0 1 1 0 0 0 0 0 6 +11 2799299 G T 1 0 9 KCNQ1 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +11 2799369 C G 0 0 7 KCNQ1 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +11 2799380 G A 0 0 2 KCNQ1 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +11 2869002 G A 0 0 1 KCNQ1 2.0 0 -2 0 0 0 1 1 0 0 0 0 0 2 +11 2869188 C T 4 0 45 KCNQ1 2.0 0 -4 -2 0 0 1 1 0 0 0 0 0 -2 +11 6625566 A G 0 0 1 ILK 2.0 0 -2 0 0 0 1 1 1 0 1.5 0 0 4.5 +11 6629332 T C 0 0 1 ILK 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +11 6629665 C T 9 0 58 ILK 2.0 0 -4 -2 0 0 0 0 0 0 0 0 0 -4 +11 6630028 TC T 107 0 214 ILK 2.0 0 -4 -2 0 0 0 0 0 0 0 0 0 -4 +11 6630043 C T 0 0 1 ILK 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +11 6630410 T C 7 0 51 ILK 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +11 6630524 C T 0 0 1 ILK 2.0 0 -4 0 0 0 0 0 0 0 0 0 0 -2 +11 6630833 G A 10 0 59 ILK 2.0 0 -4 -2 0 0 0 0 0 0 0 0 0 -4 +11 6630962 C T 0 0 1 ILK 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +11 6631016 C T 7 0 51 ILK 2.0 0 -4 -2 0 0 0 0 0 0 0 1 0 -3 +11 6631300 G A 0 0 8 ILK 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +11 6631561 A C 0 0 1 ILK 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +11 19204403 A G 4 0 43 CSRP3 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +11 19206426 A T 7 0 57 CSRP3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +11 19207841 C T 0 0 28 CSRP3 2.0 0 4 -2 0 0 0 2 0 0 0 0 0 6 +11 19209640 T C 0 0 1 CSRP3 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +11 19209912 T A 0 0 2 CSRP3 2.0 0 0 0 0 0 0 0 1 0 0 0 0 3 +11 19213986 A G 0 0 4 CSRP3 2.0 4 4 0 0 0 0 1 0 0 3 0 4 18 +11 47353498 G A 1 0 24 MYBPC3 2.0 0 0 -2 0 0 1 1 0 0 0 2 0 4 +11 47354068 G A 1 0 24 MYBPC3 2.0 0 0 -2 0 0 0 1 0 0 0 2 0 3 +11 47354787 C T 6 0 49 MYBPC3 2.0 -2 -2 -2 0 0 1 1 0 0 0 2 0 0 +11 47354851 G C 0 0 1 MYBPC3 2.0 0 0 2 0 0 1 1 0 0 1.5 0 0 7.5 +11 47354905 T C 3 0 24 MYBPC3 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +11 47355233 C G 0 0 1 MYBPC3 2.0 4 4 2 0 0 0 1 0 0 6 0 0 19 +11 47356644 G C 0 0 7 MYBPC3 2.0 0 -2 -2 0 0 0 1 0 0 1.5 0 0 0.5 +11 47357416 G A 0 0 4 MYBPC3 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +11 47357437 G T 0 0 1 MYBPC3 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +11 47358997 G A 0 0 4 MYBPC3 2.0 -2 -2 -2 0 0 0 1 1 0 0 0 0 -2 +11 47360053 G C 0 0 4 MYBPC3 2.0 -4 0 -2 0 0 0 1 0 0 0 0 0 -3 +11 47361011 C T 0 0 1 MYBPC3 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +11 47361164 T A 0 0 1 MYBPC3 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +11 47362465 G C 1 0 25 MYBPC3 2.0 0 0 -2 0 0 0 1 0 1 0 2 0 4 +11 47362642 C T 0 0 6 MYBPC3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +11 47364187 C T 0 0 1 MYBPC3 2.0 4 4 2 0 0 0 1 0 0 0 0 0 13 +11 47364762 A G 107 0 214 MYBPC3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +11 47365014 C T 3 0 27 MYBPC3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +11 47365199 G A 15 0 68 MYBPC3 2.0 0 0 -2 0 0 0 1 0 0 0 2 0 3 +11 47365214 G A 1 0 14 MYBPC3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +11 47367738 C A 0 0 1 MYBPC3 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +11 47367848 C T 0 0 1 MYBPC3 2.0 0 4 0 0 0 0 1 0 0 0 0 0 7 +11 47367871 C T 0 0 1 MYBPC3 2.0 -2 -2 0 0 0 0 1 0 0 0 0 0 -1 +11 47368153 G T 0 0 2 MYBPC3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +11 47368860 AAACC A 0 0 1 MYBPC3 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +11 47369443 G A 2 0 26 MYBPC3 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +11 47369453 G A 0 0 1 MYBPC3 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +11 47370041 T C 3 0 27 MYBPC3 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 1 0 -0.5 +11 47370107 G A 0 0 1 MYBPC3 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +11 47370150 C T 0 0 1 MYBPC3 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +11 47371261 C T 0 0 1 MYBPC3 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +11 47371330 T C 0 0 1 MYBPC3 2.0 0 -2 0 0 0 0 1 0 0 0 0 0 1 +11 47371414 C T 0 0 1 MYBPC3 2.0 -2 -2 0 0 0 0 1 0 0 1.5 0 0 0.5 +11 47371442 G A 0 0 7 MYBPC3 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +11 47371484 AG A 63 0 164 MYBPC3 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +11 47371578 G A 0 0 3 MYBPC3 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +11 47371598 C T 1 0 21 MYBPC3 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +11 47371664 C T 0 0 1 MYBPC3 2.0 0 0 2 8 1 0 1 0 0 0 0 0 14 +11 47372741 C A 0 0 2 MYBPC3 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +11 47372749 C G 0 0 1 MYBPC3 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +11 74168330 A G 0 0 1 KCNE3 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +11 74168361 C T 0 0 1 KCNE3 0 4 4 0 0 0 0 1 0 0 3 0 0 12 +11 74168411 A G 3 0 25 KCNE3 0 0 -2 -2 0 0 0 1 0 0 0 0 0 -3 +11 111781003 A T 0 0 1 CRYAB 2.0 0 0 2 0 0 1 1 1 0 0 0 0 7 +11 111781047 A C 11 0 75 CRYAB 2.0 0 -4 -2 0 0 1 1 1 0 0 2 0 1 +11 111782284 C T 0 0 4 CRYAB 2.0 -4 -4 -2 0 0 0 1 1 0 0 0 0 -6 +11 118011860 G A 3 0 43 SCN4B 0 0 0 -2 0 0 1 0 0 0 0 0 0 -1 +11 118015832 G A 0 0 8 SCN4B 0 0 -2 -2 0 0 1 1 0 0 0 0 0 -2 +11 118015959 C G 0 0 2 SCN4B 0 0 0 2 0 0 1 1 1 0 0 0 0 5 +11 118023424 G C 0 0 1 SCN4B 0 0 0 2 0 0 1 1 1 0 0 0 0 5 +11 118037564 G A 2 0 23 SCN2B 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +11 118037569 C T 0 0 1 SCN2B 0 0 0 2 0 0 1 1 0 0 0 0 0 4 +11 118037813 G T 28 0 110 SCN2B 0 0 0 -2 0 0 1 0 0 0 0 1 0 0 +11 118038741 C T 0 0 3 SCN2B 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +11 118039016 G A 0 0 1 SCN2B 0 -2 0 2 0 0 0 1 0 0 0 0 0 1 +11 118039273 T C 0 0 8 SCN2B 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +11 123504959 C G 38 0 126 SCN3B 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +11 123508842 A G 0 0 3 SCN3B 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +11 123513161 G A 0 0 25 SCN3B 0 0 -2 -2 0 0 0 1 0 0 0 0 0 -3 +11 123513341 G A 0 0 1 SCN3B 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +11 123524389 A G 0 0 1 SCN3B 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +11 123524411 G A 0 0 32 SCN3B 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +11 128781287 C T 0 0 1 KCNJ5 0 0 0 0 0 0 0 1 0 0 6 0 0 7 +11 128781339 T C 82 0 188 KCNJ5 0 0 -4 -2 0 0 0 1 0 0 0 0 0 -5 +11 128781441 C T 0 0 1 KCNJ5 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +11 128781606 C T 0 0 1 KCNJ5 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +11 128781978 T G 82 0 188 KCNJ5 0 0 -4 -2 0 0 0 1 0 0 0 1 0 -4 +11 128782002 T C 82 0 188 KCNJ5 0 0 -4 -2 0 0 0 1 0 0 0 1 0 -4 +11 128782012 C G 106 0 213 KCNJ5 0 0 -4 -2 0 0 0 1 0 0 1.5 0 0 -3.5 +11 128782112 C T 0 0 3 KCNJ5 0 0 0 -2 0 0 0 1 1 0 0 0 0 0 +11 128786294 G A 74 0 179 KCNJ5 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +12 2224511 C T 0 0 5 CACNA1C 2.0 -2 -2 -2 0 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2721137 C T 5 0 60 CACNA1C 2.0 0 -4 -2 0 0 0 1 0 0 0 0 0 -3 +12 2743567 C T 0 0 1 CACNA1C 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +12 2743650 A AT 4 0 48 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2757756 T C 52 0 153 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2757769 T C 53 0 154 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2757782 C T 52 0 152 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2760708 G A 48 0 148 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2760898 C T 0 0 13 CACNA1C 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +12 2760965 GA G 12 0 79 CACNA1C 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +12 2760970 G A 37 0 132 CACNA1C 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +12 2763143 G T 0 0 3 CACNA1C 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +12 2774833 T C 0 0 3 CACNA1C 2.0 0 -4 -2 0 0 0 1 0 0 0 0 0 -3 +12 2778044 G A 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +12 2778061 C G 0 0 1 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +12 2778272 G GC 0 0 11 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +12 2786193 A G 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +12 2787058 C T 0 0 9 na 0 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22017410 C T 0 0 1 ABCC9 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +12 22017422 A G 107 0 214 ABCC9 2.0 0 -2 -2 0 0.5 0 1 0 0 0 0 0 -0.5 +12 22017428 C G 0 0 1 ABCC9 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +12 22017486 C G 107 0 214 ABCC9 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +12 22025671 A G 0 0 1 ABCC9 2.0 -2 -2 0 0 0 0 0 0 0 0 0 0 -2 +12 22035615 A T 0 0 3 ABCC9 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +12 22035847 T C 0 0 1 ABCC9 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +12 22035873 C T 56 0 150 ABCC9 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +12 22035883 T G 11 0 53 ABCC9 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +12 22040784 C A 0 0 2 ABCC9 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +12 22040854 T G 0 0 1 ABCC9 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +12 22047151 G T 107 0 214 ABCC9 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +12 22047174 C T 65 0 166 ABCC9 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +12 22059121 C T 0 0 2 ABCC9 2.0 4 4 0 0 0 1 1 0 0 0 0 0 12 +12 22059244 A G 0 0 1 ABCC9 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +12 22063115 A G 107 0 214 ABCC9 2.0 0 -2 -2 0 0 0 1 1 0 0 0 0 0 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OBSCN 2.0 0 0 2 0 0 0 0 0 0 6 0 0 10 +1 228480282 A G 40 0 134 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228481116 G A 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 1.5 0 0 5.5 +1 228481382 C T 0 0 3 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228481917 G A 0 0 4 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228482010 C T 19 0 94 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228482028 G C 3 0 34 OBSCN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 228482059 G A 0 0 5 OBSCN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +1 228482125 C T 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 228482160 C T 0 0 1 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228482569 G A 0 0 9 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228482663 C A 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 1.5 0 0 5.5 +1 228486404 C T 3 0 31 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +1 228487165 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 228491633 G A 0 0 5 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +1 228492044 G A 22 0 97 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228492061 C T 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 228492125 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 228492220 C T 0 0 4 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +1 228494070 C G 0 0 1 OBSCN 2.0 0 0 2 0 1 0 0 0 0 0 0 0 5 +1 228494209 T C 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 228494346 T C 0 0 1 OBSCN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 228494357 C T 3 0 31 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228494382 T C,G 25 15 31 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228494394 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 228494552 C G 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 228494696 G A 3 0 37 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228494790 G A 22 0 97 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +1 228496014 G A 3 0 31 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228497053 A G 40 0 134 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228497066 A G 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 228497286 C A 0 0 6 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228503677 A G 40 0 134 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +1 228503711 G A 0 0 2 OBSCN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 228503798 G A 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 228504373 G A 0 0 1 OBSCN 2.0 0 0 2 0 0 1 0 0 0 0 0 0 5 +1 228504472 T C 40 0 134 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 1.5 0 0 2.5 +1 228504507 G T 0 0 4 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228504591 C A 3 0 31 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228504669 G A 3 0 31 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228504670 C T 22 0 97 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 1.5 0 0 2.5 +1 228504701 G GCTCC 40 0 134 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228505204 G A 3 0 37 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228505518 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +1 228505668 C G 40 0 134 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 1.5 0 0 2.5 +1 228505699 T C 40 0 134 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228505725 A C 0 0 1 OBSCN 2.0 0 0 0 0 0 1 0 0 0 3 0 0 6 +1 228505727 C T 0 0 6 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228505739 G A 3 0 31 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 1.5 0 0 2.5 +1 228505925 G A 0 0 4 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228506661 G A 0 0 6 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228506768 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 1.5 0 0 3.5 +1 228506965 C T 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 228509367 G A 0 0 1 OBSCN 2.0 0 0 2 0 0 1 0 0 0 0 0 0 5 +1 228509427 A G 40 0 134 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 1.5 0 0 2.5 +1 228511197 G A 0 0 1 OBSCN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +1 228511240 C T 0 0 1 OBSCN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 228520538 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 228520880 C T 15 0 86 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228520973 C G 15 0 86 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +1 228521002 C A 0 0 1 OBSCN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 228522357 G A 1 0 11 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228522483 C T 0 0 5 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228522509 C A 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 228523005 T TG 23 0 100 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228523042 T G,TG 15 1 100 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228523412 G A 0 0 17 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228523442 T C 24 0 103 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228523447 T C 71 0 175 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228523448 G A 15 0 86 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228523596 G A 0 0 3 OBSCN 2.0 0 0 0 0 0 1 0 0 0 0 0 4 7 +1 228523618 G A 24 0 103 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228523866 C G 0 0 2 OBSCN 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +1 228524642 T C 0 0 5 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228524671 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +1 228524919 G A 15 0 86 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228524961 C A 15 0 86 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228525008 G A 3 0 25 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 1 0 2 +1 228525627 C A 15 0 86 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228525689 G A 0 0 1 OBSCN 2.0 0 0 2 0 0 1 0 0 0 0 0 0 5 +1 228525799 C A 0 0 1 OBSCN 2.0 0 0 2 8 0 0 0 0 0 0 0 0 12 +1 228525823 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 1 3 0 0 6 +1 228525898 C G 24 0 103 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228526011 C T 3 0 25 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228526486 G A 15 0 86 OBSCN 2.0 0 0 -2 0 0 0 0 1 0 0 0 0 1 +1 228526578 T A 0 0 3 OBSCN 2.0 0 0 -2 0 0 0 1 1 0 1.5 0 0 3.5 +1 228526653 C A 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 1 0 1.5 0 0 4.5 +1 228526665 T C 24 0 103 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228527685 C T 0 0 3 OBSCN 2.0 0 0 0 0 0 1 1 1 0 0 0 4 9 +1 228527749 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 1 1 1 0 3 0 0 8 +1 228527758 G C 0 0 1 OBSCN 2.0 0 0 0 0 0 1 1 1 0 3 0 0 8 +1 228527844 T G 0 0 5 OBSCN 2.0 0 0 -2 0 0 1 0 1 0 0 0 0 2 +1 228528412 G A 15 0 86 OBSCN 2.0 0 0 -2 0 0 0 0 1 0 0 0 0 1 +1 228528563 C G 24 0 103 OBSCN 2.0 0 0 -2 0 0 0 1 1 0 1.5 0 0 3.5 +1 228528752 A G 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 1 0 0 0 0 5 +1 228529129 C A 0 0 17 OBSCN 2.0 0 0 -2 0 0 0 0 1 0 0 0 0 1 +1 228538470 C G 0 0 17 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228538568 C G 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 3 0 0 5 +1 228538635 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 6 0 0 8 +1 228538968 C T 0 0 24 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228538982 G T 0 0 2 OBSCN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 228539034 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 228543800 C T 0 0 17 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228547256 G A 0 0 17 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228547769 C T 0 0 3 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228547901 C T 14 0 82 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228548029 C A 0 0 2 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 228548094 C G 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 3 0 0 7 +1 228548129 T C 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 228548197 G A 0 0 17 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +1 228548257 G C 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 1.5 0 0 5.5 +1 228548360 G A 0 0 3 OBSCN 2.0 0 0 0 0 0 0 0 0 0 0 0 4 6 +1 228550344 G A 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 228550426 C T 0 0 17 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +1 228550429 C T 0 0 5 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +1 228552618 C T 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 228554767 G A 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 1.5 0 0 5.5 +1 228556014 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +1 228556403 C T 0 0 17 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228556788 C T 16 0 83 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228556986 G C 0 0 1 OBSCN 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +1 228557755 G A 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 1 0 3 0 0 6 +1 228557980 T C 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 228558307 T C 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 228558389 C T 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 3 0 0 7 +1 228558817 C T 0 0 1 OBSCN 2.0 0 0 2 0 0 1 0 0 0 3 0 0 8 +1 228558892 C T 0 0 12 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 3 0 0 4 +1 228558952 T G 0 0 2 OBSCN 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +1 228558992 CCA C 0 0 2 OBSCN 2.0 0 0 0 8 0 1 0 0 0 0 0 0 11 +1 228559008 C T 0 0 1 OBSCN 2.0 0 0 2 0 0 1 0 0 0 0 0 0 5 +1 228559430 G A 0 0 7 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 1.5 0 0 2.5 +1 228559450 G A 0 0 2 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 1.5 0 0 2.5 +1 228559654 G A 0 0 5 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 1.5 0 0 2.5 +1 228559967 C T 0 0 4 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228559994 C T 24 0 99 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 1.5 1 0 3.5 +1 228560034 C T 0 0 1 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228560139 A G 81 0 187 OBSCN 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +1 228560251 G C 0 0 1 OBSCN 2.0 0 0 2 0 0 1 0 0 0 0 0 0 5 +1 228560700 T C 33 0 124 OBSCN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 228561779 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +1 228562350 T C 0 0 1 OBSCN 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +1 228562523 C G 0 0 1 OBSCN 2.0 0 0 2 0 0 1 0 0 0 0 0 0 5 +1 228563558 C A 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 228563748 G A 0 0 1 OBSCN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +1 228564757 C T 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 3 0 0 5 +1 228564796 G A 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 228564884 G A 0 0 17 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +1 228565208 C T 0 0 2 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228565209 G A 0 0 1 OBSCN 2.0 0 0 0 0 0 0 0 0 0 3 0 0 5 +1 228565255 T C 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 6 0 0 10 +1 228565311 G A 0 0 1 OBSCN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +1 228565329 G A 0 0 4 OBSCN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +1 228565445 C A 0 0 17 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228565556 T G 0 0 3 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228565826 T C 0 0 2 OBSCN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 228566528 G A 0 0 1 OBSCN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 229567663 C GG 4 0 43 ACTA1 2.0 0 0 0 0 0 0 1 0 0 0 0 8.0 11 +1 229567683 TC T 4 0 43 ACTA1 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 229567826 G A 0 0 1 ACTA1 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 229568231 T G 106 0 213 ACTA1 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +1 229568300 C A 0 0 1 ACTA1 2.0 0 0 2 0 0.5 0 1 1 0 0 0 0 6.5 +1 229568632 A G 4 0 44 ACTA1 2.0 0 -2 -2 0 0 0 2 0 0 0 2 0 2 +1 229568637 C G 4 0 44 ACTA1 2.0 0 -2 -2 0 0 0 2 0 0 0 2 0 2 +1 236849952 C T 0 0 11 ACTN2 2.0 -2 -2 -2 0 0 1 1 1 0 0 0 0 -1 +1 236849999 A G 0 0 1 ACTN2 2.0 4 4 0 0 0 1 1 1 0 1.5 0 0 14.5 +1 236881185 C T 0 0 1 ACTN2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 236882303 T C 107 0 214 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236883421 C T 107 0 214 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236883564 G A 107 0 214 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236883585 T G 0 0 4 ACTN2 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +1 236894647 G A 16 0 69 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236894667 G A 0 0 1 ACTN2 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 236899042 G A 1 0 25 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236900334 C T 0 0 4 ACTN2 2.0 0 0 0 0 0 0 0 0 0 0 0 4 6 +1 236900554 C T 0 0 4 ACTN2 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +1 236900598 C T 62 0 158 ACTN2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 236902532 ATT A 1 0 8 ACTN2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 236902560 C G,T 44 6 8 ACTN2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 236902594 C G 72 0 172 ACTN2 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +1 236902865 A C 49 0 134 ACTN2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 236907966 G A 0 0 3 ACTN2 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +1 236908011 C T 0 0 1 ACTN2 2.0 -2 -2 0 0 0 0 1 0 0 0 0 0 -1 +1 236908053 C T 0 0 1 ACTN2 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +1 236908144 T C 0 0 3 ACTN2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 236911045 G A 0 0 1 ACTN2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 236911122 C T 0 0 7 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236911137 A G 1 0 19 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236912597 A G 1 0 25 ACTN2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 236912622 T A 0 0 1 ACTN2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 236914738 ATTGT A 0 0 6 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236914754 T C 0 0 4 ACTN2 2.0 -4 0 0 0 0 0 1 0 0 0 0 4 3 +1 236914923 A G 0 0 1 ACTN2 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +1 236920782 A G 0 0 1 ACTN2 2.0 0 0 2 0 1 0 1 0 0 0 0 0 6 +1 236920960 A G 0 0 1 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236923197 C T 0 0 25 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236924506 A G 87 0 188 ACTN2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 236925844 G A 3 0 32 ACTN2 2.0 -2 -2 -2 0 0 0 1 1 0 0 0 0 -2 +1 237205759 G T 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +1 237205892 G A 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +1 237519165 G T 6 0 53 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237527551 A G 0 0 8 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237532763 T G 0 0 3 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237532860 A G 0 0 1 RYR2 2.0 0 -2 2 0 0 0 1 0 0 0 0 0 3 +1 237532996 G A 0 0 2 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237540615 A C 5 0 55 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237551298 C T 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237551376 T A 32 0 120 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237586384 T C 1 0 24 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237586449 A T 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237608663 A G 0 0 2 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237608842 C T 0 0 3 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +1 237617757 C T 36 0 125 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237619875 ATT ATTT,ATTTT,AT,A 13 26 125 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237619971 T C 0 0 2 RYR2 2.0 0 -2 0 0 0 0 1 0 0 0 0 0 1 +1 237620049 T C 32 0 118 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237620108 G A 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237632512 T C 0 0 1 RYR2 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 237632514 G T 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237655057 C T 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237655173 A T 0 0 8 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237655267 T C 0 0 6 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237656185 A G 7 0 80 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237656289 C T 0 0 2 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237664004 C G 0 0 5 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237670140 A G 47 0 143 RYR2 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +1 237670190 C T 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +1 237675150 A AG 9 0 55 RYR2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 237675152 A C 0 0 1 RYR2 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +1 237675163 G A 17 0 81 RYR2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 237693662 C T 0 0 3 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237711797 A G 94 0 201 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237730059 C T 0 0 1 RYR2 2.0 0 -2 -2 0 0 1 1 0 0 1.5 0 0 1.5 +1 237730124 A G 98 0 205 RYR2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 237732395 G A 50 0 150 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237732617 A G 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237732673 C T 0 0 1 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237732684 T C 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237753074 AT ATT,A 16 1 1 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237753364 A C 20 0 101 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237754020 C T 0 0 1 RYR2 2.0 0 4 0 0 0 0 1 0 0 0 0 0 7 +1 237754340 A G 20 0 100 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237754963 A G 0 0 6 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237755076 A G 0 0 6 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 1.5 0 0 0.5 +1 237755188 C T 20 0 100 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237755203 T C 20 0 100 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237759023 C T 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237765458 G T 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237765470 A T 19 0 96 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237774017 A G 0 0 2 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237778082 G A 0 0 6 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 1.5 0 0 0.5 +1 237778084 G A 0 0 7 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 1.5 0 0 0.5 +1 237780803 A G 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237794913 A ATT 10 0 77 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237796837 G A 13 0 64 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237796850 A G 1 0 7 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237797082 T G 13 0 64 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237798342 G A 0 0 17 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237801770 T C 107 0 214 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237802559 T C 107 0 214 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237806606 G GT 0 0 1 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237806819 G A 1 0 23 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237811766 C T 0 0 2 RYR2 2.0 0 -2 0 0 0 0 1 0 0 0 0 0 1 +1 237811896 G A 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 6 0 0 11 +1 237813126 A G 23 0 92 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237814783 C T 23 0 91 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237814843 C T 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237817514 GA G 5 0 40 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237817784 A G 3 0 33 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237823256 A C 2 0 12 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237823258 A C 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237829952 G A 1 0 2 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237831103 C A 107 0 214 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237831365 C T 0 0 1 RYR2 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 237838001 G A 0 0 2 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237841339 A C 0 0 1 RYR2 2.0 0 4 0 0 0 0 1 1 0 0 0 0 8 +1 237841390 A G 7 0 54 RYR2 2.0 0 -2 -2 0 0 0 1 1 0 1.5 0 0 1.5 +1 237841393 A C 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 1 0 3 0 0 9 +1 237850666 C CT 55 0 151 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237850703 C T 0 0 6 RYR2 2.0 0 0 0 0 0 0 1 1 0 0 0 8.0 12 +1 237850729 C T 0 0 10 RYR2 2.0 0 0 0 0 0 0 1 1 0 0 0 8.0 12 +1 237850816 C T 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +1 237862360 A G 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237862421 T A 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237862436 T C 57 0 155 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237863718 T G 107 0 214 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237865203 C T 107 0 214 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237865451 C T 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237870203 C T 0 0 6 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237870542 G A 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +1 237872714 GT G 101 0 208 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237872887 T C 0 0 6 RYR2 2.0 4 0 -2 0 0 0 0 0 0 0 0 0 4 +1 237875040 C T 0 0 1 RYR2 2.0 0 4 0 0 0 0 1 0 0 0 0 0 7 +1 237875068 C T 0 0 1 RYR2 2.0 0 -2 0 0 0 0 1 0 0 0 0 0 1 +1 237880443 G A 0 0 1 RYR2 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 237881770 C T 107 0 214 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237890437 C T 107 0 214 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237893674 C T 107 0 214 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237905520 A G 0 0 1 RYR2 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +1 237905568 T TC 5 0 61 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237905586 A T 0 0 1 RYR2 2.0 0 -2 0 0 0 0 1 0 0 0 0 0 1 +1 237923053 C T 48 0 147 RYR2 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +1 237923243 A G 0 0 18 RYR2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +1 237934206 C T 0 0 2 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237941906 C A 0 0 6 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237941945 G A 0 0 7 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237942082 AACTG A 0 0 6 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237944814 C T 0 0 21 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237946964 T C 11 0 65 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237947000 C T 0 0 6 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237948286 A G 0 0 4 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237949440 C G 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237949456 T C 0 0 15 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237951226 A G 0 0 2 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237951451 A G 31 0 113 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237951482 G A 10 0 62 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237955364 A G 1 0 14 RYR2 2.0 -4 0 -2 0 0 0 1 0 0 0 0 0 -3 +1 237955649 CTGTG C 22 0 107 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237955678 T C 22 0 107 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237955680 T C 22 0 107 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237957146 G A 37 0 125 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237957161 A G 38 0 127 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237957309 A C 36 0 123 RYR2 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +1 237958750 A AT 22 0 109 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237961297 A ATGGTTGTGGTTG 0 0 5 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 8.0 11 +1 237965065 C T 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237965094 G T 15 0 80 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237965131 G A 15 0 80 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237965133 A AT 14 0 70 RYR2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +1 237969638 A G 3 0 35 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237972148 C A 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237972152 T C 0 0 4 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +1 237972189 A G 0 0 4 RYR2 2.0 0 -2 0 0 0 0 1 0 0 0 0 4 5 +1 237991614 G C 0 0 1 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +1 237991767 T C 1 0 5 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237991862 TG T 1 0 10 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237993743 A G 0 0 1 RYR2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +1 237993798 C T 0 0 3 RYR2 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +1 237994957 G A 0 0 1 RYR2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +1 237996016 C G 0 0 1 RYR2 2.0 0 0 2 0 0 0 1 1 0 0 0 0 6 +20 30407387 G A 0 0 4 MYLK2 0 4 4 0 0 0 0 1 1 0 1.5 0 4 15.5 +20 30408306 C G 0 0 7 MYLK2 0 4 4 -2 0 0 0 1 1 0 3 0 0 11 +20 30409207 G A 0 0 1 MYLK2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +20 30409452 T C 0 0 23 MYLK2 0 0 -2 -2 0 0 0 1 0 0 0 0 0 -3 +20 30409573 C T 0 0 23 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30409584 G C 0 0 14 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30411427 T C 0 0 23 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30412101 C T 0 0 1 MYLK2 0 -4 -4 -2 0 0 1 1 0 0 0 0 0 -8 +20 30414334 G A 0 0 23 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30414503 C T 0 0 5 MYLK2 0 4 4 -2 0 0 0 1 0 0 0 0 0 7 +20 30414528 G A 0 0 5 MYLK2 0 0 -2 -2 0 0 0 1 0 0 0 0 0 -3 +20 30414560 C G 0 0 23 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30414578 G A 0 0 7 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 30414621 C T 0 0 1 MYLK2 0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -5 +20 30418996 G A 0 0 4 MYLK2 0 0 0 0 0 0 0 1 0 0 0 0 4 5 +20 30419595 C T 0 0 1 MYLK2 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +20 30419954 A G 0 0 23 MYLK2 0 0 -2 -2 0 0 0 1 0 0 0 0 0 -3 +20 30421459 C T 2 0 44 MYLK2 0 0 0 -2 0 0 0 1 0 0 0 2 0 1 +20 31996336 T G 0 0 2 SNTA1 0 0 0 -2 0 0 0 1 0 0 3 0 0 2 +20 32000351 A G 48 0 144 SNTA1 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +20 32000462 C T 0 0 2 SNTA1 0 0 4 -2 0 0 1 1 1 0 0 0 0 5 +20 32000520 G C 0 0 2 SNTA1 0 0 4 0 0 0 1 1 1 0 3 0 0 10 +20 32031206 G A 0 0 2 SNTA1 0 0 4 0 0 0 1 1 1 0 0 0 0 7 +20 32031227 G A 0 0 1 SNTA1 0 0 0 2 0 0 1 1 1 0 1.5 0 0 6.5 +20 42743454 A G 12 0 66 JPH2 2.0 -4 -4 -2 0 0 0 1 0 0 0 0 0 -7 +20 42743559 G A 0 0 1 JPH2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +20 42743616 G C 0 0 6 JPH2 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +20 42744265 G C 1 0 14 JPH2 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +20 42744587 G C 6 0 51 JPH2 2.0 -4 -4 -2 0 0 0 1 0 0 0 0 0 -7 +20 42744802 C T 0 0 3 JPH2 2.0 -4 -4 -2 0 0 0 1 0 0 1.5 0 0 -5.5 +20 42745033 G A 1 0 4 JPH2 2.0 -4 -4 -2 0 0 0 1 0 0 0 0 0 -7 +20 42747247 C T 4 0 28 JPH2 2.0 -4 -4 -2 0 0 0 1 0 0 3 0 0 -4 +20 42747254 G A 4 0 25 JPH2 2.0 -4 -4 -2 0 0 0 1 0 0 0 0 0 -7 +20 42789053 G A 0 0 1 JPH2 2.0 -4 -4 0 0 0 0 1 0 0 0 0 0 -5 +20 42789056 G C 0 0 1 JPH2 2.0 -4 -4 0 0 0 0 1 0 0 0 0 0 -5 +20 42806581 G A 0 0 1 JPH2 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +20 42806597 C T 0 0 1 JPH2 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +20 42814931 T C 69 0 175 JPH2 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +20 42815190 G A 69 0 175 JPH2 2.0 -4 -4 -2 0 0 0 1 1 0 0 0 0 -6 +20 61039958 T C 27 0 100 GATA5 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 61040014 C T 0 0 1 GATA5 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +20 61040453 C G 23 0 94 GATA5 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +20 61040951 C T 23 0 95 GATA5 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +20 61040991 C T 0 0 1 GATA5 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +20 61041422 C T 0 0 1 GATA5 0 0 0 2 0 0 1 0 0 0 0 0 0 3 +20 61041640 G A 0 0 1 GATA5 0 0 0 0 0 0 1 0 0 0 0 0 0 1 +20 61041651 G A 0 0 1 GATA5 0 0 0 2 0 0 1 0 0 0 0 0 0 3 +20 61041653 G C 18 0 94 GATA5 0 0 0 -2 0 0 1 0 0 0 0 0 0 -1 +20 61048460 A G 0 0 2 GATA5 0 0 0 0 0 0 0 1 1 0 3 0 0 5 +20 61048549 G A 21 0 94 GATA5 0 0 0 -2 0 0 0 1 1 0 0 0 0 0 +20 61050082 C T 0 0 1 GATA5 0 0 0 0 0 0 1 1 1 0 1.5 0 0 4.5 +20 61050154 A G 0 0 1 GATA5 0 0 0 0 0 0 1 1 1 0 3 0 0 6 +20 61050379 T G 2 0 35 GATA5 0 0 0 -2 0 0 1 1 1 0 1.5 0 0 2.5 +20 61050552 G C 0 0 1 GATA5 0 0 0 0 0 0 1 1 1 0 3 0 0 6 +20 61050625 G A 0 0 5 GATA5 0 0 0 -2 0 0 1 0 1 0 0 0 0 0 +21 35742722 C T 6 0 34 KCNE2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +21 35742750 A G 0 0 4 KCNE2 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +21 35742947 T C 0 0 2 KCNE2 0 4 4 0 0 0 0 1 0 0 6 0 0 15 +21 35821609 G A 0 0 1 na 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +21 35821680 C T 0 0 1 na 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +21 35821821 T C 36 0 127 na 0 0 -4 -2 0 0 0 1 0 0 1.5 0 0 -3.5 +21 35821849 C T 0 0 1 na 0 0 -2 0 0 0 0 1 0 0 0 0 0 -1 +21 35821939 C T 0 0 1 KCNE1B 0 0 0 2 0 0 0 1 0 0 1.5 0 0 4.5 +22 19864694 C T 0 0 1 TXNRD2 2.0 0 0 0 0 0 1 1 0 0 0 0 0 4 +22 19865925 C T 0 0 1 TXNRD2 2.0 0 0 2 0 0 1 1 0 0 0 0 0 6 +22 19867771 C T 6 0 41 TXNRD2 2.0 0 -4 -2 0 0 1 1 0 0 0 1 0 -1 +22 19868218 A G 61 0 162 TXNRD2 2.0 0 -4 -2 0 0 1 1 1 0 0 0 0 -1 +22 19868228 G A 0 0 1 TXNRD2 2.0 0 -4 -2 0 0 1 1 1 0 0 0 0 -1 +22 19868255 AG A 5 0 42 TXNRD2 2.0 0 0 -2 0 0 1 0 1 0 0 0 0 2 +22 19870831 C T 11 0 68 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 1 0 2 +22 19871018 C T 0 0 1 TXNRD2 2.0 0 0 2 0 0 1 0 0 0 0 0 0 5 +22 19882984 T G 2 0 32 TXNRD2 2.0 0 -4 -2 0 0 1 0 0 0 1.5 2 0 0.5 +22 19883123 C T 0 0 1 TXNRD2 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +22 19885548 G T 2 0 32 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 2 0 3 +22 19898818 C A 0 0 1 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 1 0 2 +22 19898837 A G 33 0 116 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +22 19898886 C T 0 0 18 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +22 19898887 G A 0 0 1 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 1 0 2 +22 19899061 G C 0 0 1 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 1 0 2 +22 19902671 C T 0 0 8 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 1 0 2 +22 19902896 C T 14 0 76 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +22 19905802 G A 32 0 114 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +22 19906367 G T 0 0 1 TXNRD2 2.0 0 0 0 0 0 1 0 0 0 0 0 0 3 +22 19906370 G A 0 0 7 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +22 19906511 G A 2 0 30 TXNRD2 2.0 0 -4 -2 0 0 1 1 0 0 0 1 0 -1 +22 19907099 C A 14 0 76 TXNRD2 2.0 0 -4 -2 0 0 1 1 0 0 3 0 0 1 +22 19907118 G A 28 0 105 TXNRD2 2.0 0 -4 -2 0 0 1 1 0 0 0 0 0 -2 +22 19907192 A G 32 0 113 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +22 19918723 G A 0 0 10 TXNRD2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +2 39224112 T C 0 0 1 SOS1 0 0 0 0 0 0 0 1 0 0 1.5 0 0 2.5 +2 39224351 G T 94 0 199 SOS1 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 39224614 A G 0 0 2 SOS1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 39224615 G GT 94 0 199 SOS1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 39233500 G A 94 0 199 SOS1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 39239386 T G 0 0 1 SOS1 0 0 0 2 0 0 0 1 0 0 0 0 0 3 +2 39240758 C T 0 0 1 SOS1 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +2 39241107 G A 0 0 4 SOS1 0 0 0 -2 0 0 0 1 0 0 1.5 0 0 0.5 +2 39249896 A G 0 0 1 SOS1 0 0 0 2 0 0 0 1 0 0 3 0 0 6 +2 39250386 A G 0 0 1 SOS1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 39262348 C G 0 0 1 SOS1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 39278394 A G 0 0 1 SOS1 0 0 0 2 0 0 0 1 0 0 3 0 0 6 +2 39278497 A G 0 0 1 SOS1 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +2 39281730 G C 94 0 199 SOS1 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 39281905 G A 0 0 2 SOS1 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +2 39283784 G C 0 0 4 SOS1 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 39285762 G C 0 0 6 SOS1 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +2 39347388 GC G 0 0 12 SOS1 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +2 47389342 A C 0 0 20 CALM2 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 47389467 G A 0 0 2 CALM2 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +2 47389842 T C 0 0 2 CALM2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 105977761 G A 6 0 40 FHL2 2.0 0 0 -2 0 0 1 2 0 0 0 0 0 3 +2 105977776 G A 2 0 25 FHL2 2.0 0 0 -2 0 0 1 2 0 0 0 0 0 3 +2 105977903 G C 0 0 25 FHL2 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +2 105979730 C A 15 0 81 FHL2 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +2 105979752 G A 0 0 2 FHL2 2.0 0 -4 -2 0 0 0 1 0 0 0 0 0 -3 +2 105979986 C T 0 0 3 FHL2 2.0 0 0 0 0 0 0 0 0 0 0 0 4 6 +2 179391754 A G 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179392015 T C 0 0 2 TTN 2.0 -2 -2 0 0 0 0 1 0 0 0 0 0 -1 +2 179392080 A T 0 0 26 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179392277 A G 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179393111 A G 0 0 15 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179393691 G A 0 0 1 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179393840 C T 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179393859 A G 0 0 6 TTN 2.0 4 4 -2 0 0 0 1 0 0 1.5 0 0 10.5 +2 179395067 C G 0 0 15 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179395554 G A 0 0 5 TTN 2.0 0 -2 -2 0 0 0 1 1 0 1.5 0 0 1.5 +2 179395555 C A 0 0 5 TTN 2.0 0 -2 -2 0 0 0 1 1 0 1.5 0 0 1.5 +2 179395560 G A 0 0 15 TTN 2.0 -2 -2 -2 0 0 0 1 1 0 0 0 0 -2 +2 179395573 C T 0 0 7 TTN 2.0 -4 -4 -2 0 0 0 1 1 0 3 0 0 -3 +2 179395760 G A 0 0 15 TTN 2.0 -2 -2 -2 0 0 0 1 1 0 0 0 0 -2 +2 179395874 C T 0 0 1 TTN 2.0 4 4 -2 0 0 0 1 1 0 0 0 0 10 +2 179395958 T C 5 0 57 TTN 2.0 -2 -2 -2 0 0 0 1 1 0 0 0 0 -2 +2 179396162 C G 0 0 9 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179396354 G A 0 0 26 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179396573 T G 0 0 1 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179396766 C T 0 0 1 TTN 2.0 4 4 -2 0 0 0 1 0 0 3 0 0 12 +2 179396782 C G 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179397561 C T 0 0 26 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 3 0 0 0 +2 179398195 C G 0 0 1 TTN 2.0 4 0 0 0 0 0 1 0 0 3 0 0 10 +2 179398509 C A 0 0 15 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 3 0 0 0 +2 179398591 T C 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +2 179398747 T C 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +2 179398823 G A 0 0 26 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179398989 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179399071 G A 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179399451 C T 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179399537 A C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179399576 C G 0 0 4 TTN 2.0 4 4 -2 0 0 0 1 0 0 3 0 0 12 +2 179399677 C T 0 0 2 TTN 2.0 -2 -2 0 0 0 0 1 0 0 0 0 0 -1 +2 179399936 G C 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179400586 A G 0 0 3 na 0 -2 -2 -2 0 0 0 0 0 0 0 0 0 -6 +2 179400895 C T 0 0 13 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179401074 A C 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179401311 C CA 0 0 2 na 0 4 4 0 0 0 0 0 0 0 0 0 0 8 +2 179401740 C T 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179401742 C T 0 0 2 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 3 0 0 0 +2 179401777 A T 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179402301 A T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179402474 G A 0 0 3 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 4 10 +2 179403425 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 1 0 0 0 0 6 +2 179403593 G A 0 0 26 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179403750 C T 0 0 10 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 3 0 0 0 +2 179404197 T C 0 0 3 TTN 2.0 4 4 -2 0 0 0 1 0 0 0 0 0 9 +2 179404293 G A 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179404402 T C 0 0 6 TTN 2.0 -2 -2 0 0 0 1 1 0 0 1.5 0 8.0 9.5 +2 179404461 C T 0 0 1 TTN 2.0 0 0 2 0 0 1 1 0 0 0 0 0 6 +2 179404498 G C 0 0 1 TTN 2.0 4 4 0 0 0 1 1 0 0 3 0 0 15 +2 179404550 G A 0 0 1 TTN 2.0 4 4 -2 0 0 1 1 0 0 3 0 0 13 +2 179404628 T A 0 0 13 TTN 2.0 -2 -2 -2 0 0 1 1 0 0 0 0 0 -2 +2 179404786 A T 0 0 26 na 0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -5 +2 179406003 C A 5 0 56 na 0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -5 +2 179406191 C T 0 0 26 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 3 0 0 0 +2 179407663 G A 0 0 2 TTN 2.0 -2 0 0 0 0 0 1 0 0 0 0 0 1 +2 179408713 A G 0 0 11 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179410282 A G 0 0 3 TTN 2.0 4 4 -2 0 0 0 1 0 0 1.5 0 0 10.5 +2 179410468 A G 0 0 2 na 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179410666 G A 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179410704 G A 0 0 1 TTN 2.0 4 4 -2 0 0 0 1 0 0 0 0 0 9 +2 179410815 G A 0 0 2 TTN 2.0 -4 -4 0 0 0 0 1 0 0 0 0 0 -5 +2 179411011 T C 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179411207 A T 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179411212 G A 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179411665 A G 1 0 41 na 0 0 0 -2 0 0 0 0 0 1 0 0 0 -1 +2 179412966 G A 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179413110 G A 0 0 26 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179413452 G A 0 0 7 TTN 2.0 4 4 -2 0 0 0 1 0 0 0 0 0 9 +2 179413657 A G 0 0 1 TTN 2.0 4 4 2 0 0 0 1 0 0 0 0 0 13 +2 179414177 G A 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179414318 C T 0 0 10 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 3 0 0 0 +2 179414633 C A 1 0 41 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179414705 A T 0 0 3 na 0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -5 +2 179414800 C T 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179415013 G A 0 0 2 na 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179415833 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179415942 A C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179416556 A C 0 0 11 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179416801 A C 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179417091 C T 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179417415 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179417633 C T 0 0 2 TTN 2.0 -4 -4 0 0 0 0 1 0 0 0 0 0 -5 +2 179418144 C T 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179418306 C T 0 0 1 TTN 2.0 4 0 0 0 0 0 1 0 0 1.5 0 0 8.5 +2 179419342 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179419792 G A 0 0 3 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 4 15 +2 179421609 C T 0 0 10 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179421694 A G 5 0 56 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179422073 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179422181 C T 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +2 179422286 C A 0 0 1 na 0 4 4 0 0 0 0 1 0 0 0 0 0 9 +2 179422669 G T 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179422834 C A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179423099 A G 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179423168 T C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179424048 T C 0 0 9 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179424558 C T 0 0 1 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179424734 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179424834 C T 0 0 1 TTN 2.0 4 4 2 0 0 0 1 0 0 0 0 0 13 +2 179425470 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179425988 G A 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179426219 T C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179426596 C T 0 0 2 TTN 2.0 4 0 0 0 0 0 1 0 0 1.5 0 0 8.5 +2 179426682 T C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179427186 A G 5 0 57 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179427536 T C 5 0 57 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179428119 C T 0 0 4 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 4 15 +2 179428299 G T 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179429004 G A 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179429301 A G 0 0 1 TTN 2.0 -2 -2 0 0 0 0 1 0 0 0 0 0 -1 +2 179429612 A G 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179430060 G T 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179430105 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179430137 T G 0 0 1 TTN 2.0 -2 0 2 0 0 0 1 0 0 0 0 0 3 +2 179430997 G A 1 0 41 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179431076 C G 0 0 8 TTN 2.0 -4 -4 -2 0 0 0 1 0 0 3 0 0 -4 +2 179431594 A G 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 3 0 0 0 +2 179431797 A T 0 0 15 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179432004 A G 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179432185 A G 5 0 52 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179433221 T C 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179433580 T C 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179433654 C T 0 0 2 TTN 2.0 -2 -2 0 0 0 0 1 0 0 0 0 0 -1 +2 179434139 A G 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179434303 A G 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179434516 C T 0 0 15 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179435337 T G 0 0 11 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179435418 T C 0 0 1 TTN 2.0 -2 -2 0 0 0 0 1 0 0 0 0 0 -1 +2 179436020 G A 0 0 26 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 3 0 0 0 +2 179436257 T C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179436303 G C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179437034 C G 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +2 179438235 T C 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179438866 C T 0 0 9 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 3 0 0 0 +2 179439511 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179440029 G A 5 0 50 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179440182 A G 0 0 1 TTN 2.0 -2 -2 0 0 0 0 1 0 0 0 0 0 -1 +2 179441119 G A 0 0 1 TTN 2.0 -2 -2 0 0 0 0 1 0 0 1.5 0 0 0.5 +2 179441295 T C 0 0 1 TTN 2.0 -4 -4 0 0 0 0 1 0 0 3 0 0 -2 +2 179441738 A G 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179441932 G A 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179442292 TA T 1 0 26 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179442784 C G 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179443540 A G 0 0 11 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179444137 A G 2 0 42 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179444166 G A 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179444289 A G 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179444626 A C 0 0 3 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179444768 C G 107 0 214 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179444939 C T 4 0 48 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179446381 C T 0 0 8 TTN 2.0 4 4 -2 0 0 0 1 0 0 1.5 0 0 10.5 +2 179447848 T C 6 0 58 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179448315 A C 0 0 5 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179448967 A AAAC 0 0 5 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179449131 G A 0 0 7 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179449186 G A 0 0 2 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179449579 C T 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179451420 G A 6 0 56 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179451906 G A 0 0 2 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179453429 G A 0 0 4 TTN 2.0 4 4 -2 0 0 0 1 0 0 1.5 0 0 10.5 +2 179454394 A G 6 0 57 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179454530 C T 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179455207 T C 6 0 57 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179455352 C T 0 0 1 TTN 2.0 -2 -2 0 0 0 0 1 0 0 3 0 0 2 +2 179455595 T C 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179456310 C G 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179457147 G A 1 0 27 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179457446 A G 0 0 20 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179457457 G T 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179457928 G T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179458591 C T 1 0 27 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 3 0 0 0 +2 179460433 G A 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179460557 A T 0 0 5 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179462494 A G 5 0 50 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179462580 T C 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179462796 A G 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179463422 A G 0 0 1 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179463446 T TA 0 0 9 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179463823 T A 0 0 5 na 0 0 0 0 0 0 0 0 0 0 0 0 8.0 8 +2 179463991 C T 0 0 1 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179464245 A G 0 0 5 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179464527 T C 6 0 57 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179464637 A T 0 0 1 na 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179465706 A T 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179466859 A G 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179467070 A G 0 0 1 TTN 2.0 -2 0 2 0 0 0 1 0 0 0 0 0 3 +2 179467226 G C 0 0 3 TTN 2.0 -2 -2 0 0 0 0 1 0 0 0 0 4 3 +2 179468704 A G 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +2 179469386 A G 0 0 12 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179470047 C A 0 0 7 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179472223 A G 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 3 0 0 0 +2 179472292 T A 0 0 3 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179472319 C T 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179472693 A G 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179472825 T C 0 0 14 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179473238 C A 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179473705 G A 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179474075 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179474466 C T 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179474668 G A 0 0 7 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 3 0 0 0 +2 179474787 T C 0 0 2 na 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179477267 T G 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179477332 ATT AT 6 0 55 na 0 0 0 4.0 0 0 0 0 0 0 0 0 8.0 12 +2 179477435 C T 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179477476 T G 0 0 5 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179477529 C G 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179477717 A G 0 0 7 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179477802 G A 0 0 1 na 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +2 179478639 T A 0 0 2 TTN 2.0 -4 -4 0 0 0 0 1 0 0 0 0 0 -5 +2 179478829 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179479118 A AT 0 0 5 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179479245 C T 0 0 7 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179479741 G A 0 0 4 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179482089 C T 0 0 1 TTN 2.0 4 4 -2 0 0 0 1 0 0 3 0 0 12 +2 179482280 G A 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179482309 CAATT C 0 0 7 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179482533 G T 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +2 179482852 G A 0 0 1 na 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179482937 C T 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179482994 G A 0 0 4 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 4 18 +2 179483040 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179484892 T A 0 0 5 na 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179485521 A T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179485599 A G 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179485707 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179486037 C A 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179486376 C T 0 0 2 TTN 2.0 -2 -2 0 0 0 0 1 0 0 3 0 0 2 +2 179486478 T C 0 0 1 MIR548N 0 4 4 -2 0 0 0 0 0 0 0 0 0 6 +2 179487314 C CT 0 0 5 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179495795 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179497025 A G 0 0 2 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179497133 C T 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179498022 G A 0 0 1 TTN 2.0 -2 -2 0 0 0 0 1 0 0 0 0 0 -1 +2 179498042 T C 1 0 25 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179498303 T C 0 0 4 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179499038 A G 0 0 4 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179499530 T C 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179500629 C T 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179500777 C T 0 0 1 TTN 2.0 4 0 0 0 0 0 1 0 0 1.5 0 0 8.5 +2 179500790 A G 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179501351 G A 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179505896 A G 0 0 5 MIR548N 0 0 0 -2 0 0 0 1 1 0 0 0 0 0 +2 179506911 G A 0 0 2 MIR548N 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179509245 T C 0 0 3 MIR548N 0 0 0 0 0 0 0 0 0 0 0 0 4 4 +2 179510833 A T 0 0 4 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179513923 A T 0 0 4 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179513966 G A 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179514208 G A 0 0 5 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179514420 G A 0 0 3 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179514433 T C 4 0 51 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179514479 C T 0 0 2 MIR548N 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179514508 A C 0 0 3 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179514941 TTTTCCTCTTCAGGAGCAA T 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179515437 T G 0 0 3 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179515472 G A 0 0 2 MIR548N 0 -4 0 -2 0 0 0 1 0 0 0 0 0 -5 +2 179515475 T C 0 0 1 MIR548N 0 0 0 2 0 1 0 1 0 0 0 0 0 4 +2 179515483 G C 0 0 2 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179516580 G C 0 0 3 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179516690 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179517019 A T 0 0 1 TTN 2.0 4 4 -2 0 0 0 1 0 0 0 0 0 9 +2 179517105 G A 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179517605 G A 0 0 1 TTN 2.0 -4 0 0 0 0 0 1 0 0 1.5 0 0 0.5 +2 179517632 G A 0 0 2 TTN 2.0 4 0 0 0 0 0 0 0 0 1.5 0 0 7.5 +2 179517654 T C 0 0 5 TTN 2.0 -4 0 -2 0 0 0 1 0 0 0 0 0 -3 +2 179517725 T G 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179518003 A G 1 0 10 TTN 2.0 -4 0 -2 0 0 0 0 0 0 1.5 0 0 -2.5 +2 179518170 T G 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 1.5 0 0 5.5 +2 179518273 G A 0 0 1 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179518854 G A 0 0 2 MIR548N 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179518911 TAGC T 3 0 42 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179519086 A T 0 0 1 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179519330 C A 2 0 11 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179519351 T C 2 0 11 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179522337 G A 0 0 5 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179522377 T C 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179522513 T C 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179522795 A G 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179523368 G A 3 0 51 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179527095 G A 0 0 4 TTN 2.0 -4 0 -2 0 0 0 0 0 0 1.5 0 0 -2.5 +2 179527475 C T 0 0 5 TTN 2.0 -2 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 179528068 C A 0 0 2 TTN 2.0 -4 0 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179528335 T C 0 0 4 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179528378 C T 1 0 14 TTN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +2 179529273 A G 0 0 5 MIR548N 0 -4 0 -2 0 0 0 0 0 0 0 0 0 -6 +2 179529497 T G 0 0 5 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179529584 A T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179531693 A G 0 0 3 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179534224 C T 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179534225 G A 0 0 3 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 0 0 -2 +2 179535068 T C 0 0 1 MIR548N 0 0 0 2 0 0 0 0 0 0 0 0 0 2 +2 179537200 C T 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +2 179538492 C T 0 0 1 MIR548N 0 0 0 0 0 0 0 0 0 0 0 0 0 0 +2 179539803 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179539812 T G 0 0 2 TTN 2.0 4 4 0 0 0 0 0 0 0 1.5 0 0 11.5 +2 179539903 C A 6 0 54 MIR548N 0 0 0 -2 0 0 0 0 0 0 0 1 0 -1 +2 179540461 G T 0 0 3 TTN 2.0 -4 0 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179541899 C G 50 0 148 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179542046 A G 0 0 1 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179542068 T C 0 0 4 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179542674 C T 0 0 1 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179543217 C T 2 0 40 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 1 0 -2 +2 179543382 T G 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +2 179543399 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179544427 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179544701 A G 0 0 1 TTN 2.0 0 0 2 0 0 1 1 0 0 1.5 0 0 7.5 +2 179544983 C G 0 0 1 TTN 2.0 -2 0 0 0 0 0 1 0 0 1.5 0 0 2.5 +2 179545107 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +2 179545177 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179545859 C T 5 0 49 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179547455 T C 0 0 3 TTN 2.0 -2 -2 0 0 0 0 0 0 0 0 0 4 2 +2 179547465 C T 0 0 2 TTN 2.0 4 4 0 0 0 0 0 0 0 1.5 0 0 11.5 +2 179547860 A G 4 0 45 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179548633 C CT 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179548704 T C 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179549048 C T 0 0 1 TTN 2.0 -4 0 -2 0 0 0 0 0 0 0 0 0 -4 +2 179549131 C T 0 0 6 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179549407 G A 0 0 4 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 4 15 +2 179549474 G A 0 0 1 TTN 2.0 4 4 2 0 0 0 1 0 0 1.5 0 0 14.5 +2 179549500 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179549608 G GA 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179549707 G A 0 0 1 TTN 2.0 -2 0 0 0 0 0 1 0 0 1.5 0 0 2.5 +2 179550069 T C 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179550302 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179550393 T G 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179553542 G T 0 0 6 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179553566 A G 0 0 5 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 8.0 10 +2 179553730 ATTTTTTTT A 0 0 7 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179553781 T C 0 0 1 TTN 2.0 0 0 0 0 1 0 1 0 0 0 0 0 4 +2 179553787 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179553790 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179553793 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179553917 G A 1 0 14 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179554305 C T 10 0 63 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179554549 G C 0 0 1 TTN 2.0 4 0 0 0 0 0 1 0 0 0 0 0 7 +2 179558282 T A 4 0 50 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +2 179558366 T C 6 0 55 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179563622 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179563702 C T 0 0 8 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179566398 C G 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179566802 T TA 0 0 6 TTN 2.0 -2 -2 -2 0 0 0 0 0 0 0 0 0 -4 +2 179567230 A G 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179567340 G A 0 0 1 TTN 2.0 4 4 -2 0 0 0 1 0 0 1.5 0 0 10.5 +2 179567431 A C 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179569147 T C 0 0 1 TTN 2.0 4 4 0 0 0 0 0 0 0 0 0 0 10 +2 179569387 T A 0 0 10 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179569400 C T 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179569436 A G 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179569583 T A 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179569705 A G 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179570114 A T 0 0 5 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179570122 C A 0 0 3 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179571448 A G 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179571697 C T 0 0 5 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179572222 G T 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179572445 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179574384 C T 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179575295 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179575511 C T 1 0 11 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179575949 G T 0 0 28 TTN 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +2 179576855 A G 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179577736 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179577998 T C 0 0 1 TTN 2.0 4 0 0 0 0 0 1 0 0 1.5 0 0 8.5 +2 179578108 T TACAAA,TACAAAACAAA 4 0 1 TTN 2.0 -2 -2 -2 0 0 0 0 0 0 0 0 0 -4 +2 179578159 A G 0 0 2 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179578703 C T 0 0 3 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 4 15 +2 179578704 G A 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179578730 G A 5 0 50 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179578937 A G 0 0 5 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179579093 T C 3 0 40 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 1 0 -0.5 +2 179579212 T C 5 0 50 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 1 0 -2 +2 179579366 G A 0 0 5 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179579694 T A 0 0 5 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179579822 T A 5 0 50 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 1 0 -2 +2 179579977 G A 0 0 8 TTN 2.0 4 4 -2 0 0 0 1 0 0 1.5 0 0 10.5 +2 179580171 T C 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +2 179580210 G A 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 0 0 0 0 0 0 -4 +2 179580434 A G 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179580525 C T 0 0 5 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179581835 C A 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179581933 T G 0 0 7 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179581971 C T 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179582063 A T 0 0 2 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179582162 C T 3 0 40 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +2 179582166 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +2 179582327 C T 3 0 40 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 1 0 -0.5 +2 179582537 G T 5 0 50 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 1 0 -0.5 +2 179582605 A G 3 0 42 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +2 179582760 T C 0 0 1 TTN 2.0 -4 -4 0 0 0 0 1 0 0 1.5 0 0 -3.5 +2 179582824 C T 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179582853 T C 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179583317 G A 1 0 23 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179583326 T G 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179583398 T C 3 0 42 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +2 179583496 T G 3 0 40 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179583966 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179583967 G A 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179584152 G A 0 0 1 TTN 2.0 4 4 2 0 0 0 1 0 0 3 0 0 16 +2 179584366 G T 0 0 1 TTN 2.0 -2 -2 0 0 0 0 1 0 0 0 0 0 -1 +2 179584831 G C 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +2 179585257 G C 0 0 2 TTN 2.0 -2 -2 0 0 0 0 1 0 0 1.5 0 0 0.5 +2 179585266 C T 107 0 214 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179585393 A G 5 0 50 TTN 2.0 -2 -2 -2 0 0 0 0 0 0 0 1 0 -3 +2 179585963 A G 0 0 3 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179586604 C G 0 0 8 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179586901 G GT 0 0 2 TTN 2.0 0 0 -2 0 0 0 0 1 0 0 0 0 1 +2 179587130 C G 3 0 40 TTN 2.0 -2 -2 -2 0 0 0 1 1 0 0 1 0 -1 +2 179587546 A G 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 1 0 0 0 0 -2 +2 179587552 T C 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 1 0 0 0 0 -2 +2 179587670 G A 0 0 1 TTN 2.0 -2 0 0 0 0 0 1 1 0 0 0 0 2 +2 179587687 T C 5 0 50 TTN 2.0 0 0 -2 0 0 0 0 1 0 0 1 0 2 +2 179588535 G A 0 0 3 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 4 6 +2 179588908 A C 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179589058 G A 0 0 2 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179589217 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179589241 G A 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179589260 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179590133 C G 0 0 2 TTN 2.0 4 0 0 0 0 0 1 0 0 1.5 0 0 8.5 +2 179590329 C T 0 0 3 TTN 2.0 -4 -4 -2 0 0 0 1 0 0 3 0 0 -4 +2 179591757 T C 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +2 179591917 T C 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +2 179592161 A G 0 0 3 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179593270 A G 0 0 1 TTN 2.0 4 4 -2 0 0 0 1 0 0 0 0 0 9 +2 179593352 C T 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179593862 G A 0 0 1 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179594059 T C 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +2 179594653 C A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179595117 C G 4 0 46 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +2 179595372 T C 0 0 1 TTN 2.0 4 4 -2 0 0 0 1 0 0 1.5 0 0 10.5 +2 179595577 GT GTT,G 0 1 1 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179595588 TA T 0 0 2 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179595589 A T 0 0 3 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179596554 T C 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +2 179597242 C A 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 3 0 0 14 +2 179597273 A G 0 0 1 TTN 2.0 4 0 2 0 0 0 1 0 0 0 0 0 9 +2 179597600 C T 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +2 179598228 A G 0 0 26 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179599355 G C 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179599473 C G 1 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +2 179599667 G C 0 0 1 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179600303 G C 0 0 1 TTN 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +2 179600563 G A 107 0 214 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179600648 C T 0 0 7 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179603837 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179604101 C T 0 0 2 TTN 2.0 -2 -2 0 0 0 0 1 0 0 1.5 0 0 0.5 +2 179604160 T G 0 0 5 TTN 2.0 0 -4 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179604366 T G 0 0 5 TTN 2.0 0 -4 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179604440 A G 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179604742 G A 0 0 5 TTN 2.0 0 -4 -2 0 0 0 1 0 0 0 0 0 -3 +2 179604871 G A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179605180 C A,T 3 1 1 TTN 2.0 0 -4 -2 0 0 0 0 0 0 0 1 0 -3 +2 179605380 T A 0 0 1 TTN 2.0 -2 -2 0 0 0 0 0 0 0 1.5 0 0 -0.5 +2 179605705 A G 0 0 5 TTN 2.0 0 -4 -2 0 0 0 0 0 0 0 0 0 -4 +2 179605725 T C 0 0 9 TTN 2.0 -4 -4 -2 0 0 0 0 0 0 1.5 0 0 -6.5 +2 179605755 G C 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 1.5 0 0 5.5 +2 179605991 G A 0 0 3 TTN 2.0 -4 -4 -2 0 0 0 1 0 0 1.5 0 0 -5.5 +2 179606172 C T 0 0 2 TTN 2.0 0 4 0 0 0 0 0 0 0 1.5 0 0 7.5 +2 179606538 G A 1 0 12 TTN 2.0 0 -4 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179606590 T C 0 0 2 TTN 2.0 -2 -2 0 0 0 0 0 0 0 0 0 0 -2 +2 179610967 C T 0 0 2 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179611279 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179611552 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 1.5 0 0 4.5 +2 179611711 C A 0 0 5 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179611847 T G 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179611851 C T 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179611875 A G 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179612373 A C 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179612383 C T 0 0 17 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179612511 G A 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179612635 C T 0 0 2 TTN 2.0 -2 0 0 0 0 0 0 1 0 1.5 0 0 2.5 +2 179612883 A G 0 0 2 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179613049 A G 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 1.5 0 0 3.5 +2 179613191 T C 0 0 1 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179613651 G A 1 0 7 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179613763 T C 0 0 1 TTN 2.0 0 4 0 0 0 0 0 0 0 0 0 0 6 +2 179614952 A G 107 0 214 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179615318 T G 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 1.5 0 0 5.5 +2 179615321 G T 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +2 179615887 T C 96 0 202 TTN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +2 179615931 C G 107 0 214 TTN 2.0 0 0 -2 0 0 0 0 0 0 1.5 0 0 1.5 +2 179615994 T C 107 0 214 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179616210 G A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179616481 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +2 179616770 GAAA GAAAA,GAA,GA,G 16 19 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179618019 T A 96 0 202 TTN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +2 179620951 C T 96 0 202 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179621184 G A 0 0 5 TTN 2.0 -4 0 -2 0 0 0 0 0 0 0 0 0 -4 +2 179621477 C T 107 0 214 TTN 2.0 0 0 -2 0 0 0 1 0 0 1.5 0 0 2.5 +2 179621503 C T 0 0 6 TTN 2.0 -4 0 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179623758 C T 96 0 202 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179623772 G A 0 0 2 TTN 2.0 -2 -2 0 0 0 0 1 0 0 0 0 0 -1 +2 179623939 T C 107 0 214 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179628918 C T 0 0 2 TTN 2.0 -4 -4 -2 0 0 0 1 0 0 1.5 0 0 -5.5 +2 179629363 T C 107 0 214 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179629461 C T 96 0 202 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179631091 A T 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179631214 T C 1 0 11 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179631357 TA T 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179631362 A C 0 0 15 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179631364 AC A 0 0 4 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179632496 T C 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179632598 C T 0 0 1 TTN 2.0 4 4 -2 0 0 1 1 0 0 0 0 0 10 +2 179632710 T C 64 0 165 TTN 2.0 0 0 -2 0 0 1 0 0 0 0 0 0 1 +2 179633644 G C 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179634389 TA T 107 0 214 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179634391 TA T 107 0 214 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179634421 T G 0 0 42 TTN 2.0 0 0 -2 0 0 0 1 0 0 3 0 0 4 +2 179634936 C T 0 0 6 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179634961 C A 0 0 1 TTN 2.0 -4 -4 -2 0 0 0 1 0 0 0 0 0 -7 +2 179635882 C T 107 0 214 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179635888 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +2 179635919 C T 0 0 11 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179636257 T A 0 0 6 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179637861 C G 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179638238 G A 1 0 22 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179638246 C G 0 0 2 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179638721 C T 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 3 0 0 0 +2 179640152 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179641112 C A 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 1.5 0 0 12.5 +2 179641336 C T 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +2 179641802 A G 0 0 1 LOC101927055 0 0 0 0 0 0 0 1 0 0 0 0 0 1 +2 179641975 C T 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179642425 G A 105 0 212 LOC101927055 0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -5 +2 179642589 C G,T 0 0 212 TTN 2.0 0 0 2 0 0 0 1 0 0 3 0 8.0 16 +2 179643775 C T 0 0 1 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179643886 A G 105 0 212 LOC101927055 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 179643934 A G 105 0 212 LOC101927055 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +2 179644035 G A 105 0 212 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179644160 T C 0 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179644848 C G 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +2 179644855 T C 83 0 188 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179647546 A G 0 0 8 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179647823 C T 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179647824 G A 0 0 6 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179648778 C A 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179649134 C A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179650408 G A 6 0 56 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 3 0 0 0 +2 179650701 C T 12 0 81 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179650932 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179654032 T G 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179654121 G T 0 0 16 TTN 2.0 0 0 -2 0 0 0 2 0 0 0 0 0 2 +2 179654136 C A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179654695 C G 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179656963 T C 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179656977 A C 0 0 3 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +2 179656993 A C 0 0 1 TTN 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +2 179658175 C T 1 0 5 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179658310 T C 0 0 1 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179659064 T C 0 0 1 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179659110 G A 0 0 2 TTN 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +2 179659334 A C 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179659722 G A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179659757 T C 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179659815 C G 0 0 2 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +2 179659912 G A 1 0 12 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +2 179659928 C A 0 0 1 TTN 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +2 179660030 T C 0 0 4 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179665231 G C 0 0 1 TTN 2.0 -2 0 2 0 0 0 1 0 0 0 0 0 3 +2 179665279 G A 0 0 2 TTN 2.0 4 4 0 0 0 0 1 0 0 0 0 0 11 +2 179666830 G A 0 0 19 TTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +2 179666956 G A 0 0 1 TTN 2.0 0 4 2 0 0 0 1 0 0 0 0 0 9 +2 179666982 C A 0 0 3 TTN 2.0 -2 -2 -2 0 0 0 1 0 0 3 0 0 0 +2 179667090 C T 26 0 107 TTN 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +2 179669199 C T 0 0 1 TTN 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +2 179669227 CTGGAG C 0 0 2 TTN 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 179669244 G GA 0 0 1 TTN 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +2 220283259 A G 107 0 214 DES 2.0 0 -4 -2 0 0 0 1 1 0 0 1 0 -1 +2 220283277 T C 107 0 214 DES 2.0 0 -4 -2 0 0 0 1 1 0 0 1 0 -1 +2 220283591 T A 0 0 1 DES 2.0 0 0 2 0 0 0 1 1 0 6 0 0 12 +2 220283592 C T 0 0 9 DES 2.0 0 -4 -2 0 0 0 1 1 0 0 0 0 -2 +2 220283826 T G 107 0 214 DES 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 220284779 C T 43 0 133 DES 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 220284873 G A 0 0 1 DES 2.0 0 4 2 0 0 0 1 1 0 3 0 0 13 +2 220284876 C T 0 0 4 DES 2.0 0 4 -2 0 0 0 1 1 0 3 0 0 9 +2 220285054 A G 0 0 1 DES 2.0 0 0 2 0 0 0 1 1 0 6 0 0 12 +2 220285088 C T 0 0 5 DES 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 220285182 C A 0 0 7 DES 2.0 0 0 -2 0 0 0 1 1 0 0 0 0 2 +2 220285273 C T 0 0 1 DES 2.0 0 -2 0 0 0 0 1 1 0 0 0 0 2 +2 220285309 C T 17 0 81 DES 2.0 0 -4 -2 0 0 0 1 1 0 0 0 0 -2 +2 220285395 G A 0 0 1 DES 2.0 0 0 2 0 0 0 1 1 0 0 0 0 6 +2 220285666 G C 17 0 81 DES 2.0 0 -4 -2 0 0 0 1 1 0 0 0 0 -2 +2 220286142 G A 17 0 81 DES 2.0 0 -4 -2 0 0 0 1 1 0 0 0 0 -2 +2 220288562 C G 0 0 1 DES 2.0 0 0 0 0 0 0 1 1 0 0 0 0 4 +2 220290674 G A 0 0 1 DES 2.0 0 -2 0 0 0 0 1 0 0 0 0 0 1 +3 8775589 C T 1 0 25 CAV3 0 0 -2 -2 0 0 0 1 1 0 0 0 0 -2 +3 8775661 C T 11 0 71 CAV3 0 0 -2 -2 0 0 0 1 1 0 0 0 0 -2 +3 8775702 G A 0 0 4 CAV3 0 0 0 -2 0 0 0 0 1 0 0 0 0 -1 +3 8775724 G A 0 0 3 CAV3 0 0 0 0 0 0 0 0 1 0 0 0 4 5 +3 8787164 AAGCGGGTGGCTTCTGTG A 1 0 27 CAV3 0 0 0 -2 0 0 0 1 0 0 0 0 0 -1 +3 8787189 G C 0 0 10 CAV3 0 0 0 -2 0 0 0 1 0 0 0 1 0 0 +3 8787220 T C 5 0 38 CAV3 0 0 -2 -2 0 0 0 1 0 0 0 0 0 -3 +3 8787313 C G 0 0 2 CAV3 0 4 4 0 0 0 0 1 0 0 0 0 0 9 +3 8787330 C T 0 0 4 CAV3 0 0 4 0 0 0 0 1 0 0 3 0 4 12 +3 12626019 G A 0 0 3 RAF1 2.0 0 -4 -2 0 0 0 2 0 0 0 0 0 -2 +3 12626516 G A 24 0 92 RAF1 2.0 0 0 -2 0 0 0 1 0 1 0 2 0 4 +3 12633168 A G 1 0 8 RAF1 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +3 12641349 A G 0 0 2 RAF1 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +3 12641350 A G 0 0 2 RAF1 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +3 12641873 C T 0 0 1 RAF1 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +3 12647830 G A 0 0 1 RAF1 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +3 12650482 T A 107 0 214 RAF1 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +3 14166739 G C 0 0 1 TMEM43 2.0 0 0 0 0 0 1 1 1 0 0 0 0 5 +3 14166813 G C 0 0 1 TMEM43 2.0 0 0 0 0 0 1 1 1 0 0 0 0 5 +3 14166835 C T 1 0 27 TMEM43 2.0 0 0 -2 0 0 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0 -2 0 0 0 1 0 0 0 1 0 2 +5 230942 G C 0 0 3 SDHA 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +5 230943 T C 0 0 3 SDHA 2.0 0 0 0 0 0 0 1 0 0 0 0 4 7 +5 230980 A G 66 0 167 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 2 0 3 +5 231042 C T 0 0 1 SDHA 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +5 231111 T C 48 0 140 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 2 0 3 +5 231143 T C 1 0 20 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +5 233560 G A 0 0 1 SDHA 2.0 0 0 -2 0 0 0 0 0 0 0 2 0 2 +5 233572 A G 1 0 20 SDHA 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +5 233698 G A 0 0 2 SDHA 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +5 233734 C G 1 0 20 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +5 235345 C G 0 0 2 SDHA 2.0 0 0 2 8 0 0 1 0 0 0 0 0 13 +5 235364 C T 0 0 1 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 2 0 3 +5 235416 T C 0 0 1 SDHA 2.0 0 0 2 0 0 0 1 0 0 6 0 0 11 +5 236482 A G 0 0 2 SDHA 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +5 236587 G T 0 0 3 SDHA 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +5 236695 C T 0 0 1 SDHA 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +5 236753 C T 1 0 20 SDHA 2.0 0 0 -2 0 0 0 0 0 0 0 1 0 1 +5 236760 C A 1 0 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37371059 G A 0 0 4 NUP155 2.0 0 0 -2 0 0 1 1 1 0 0 0 0 3 +5 155756623 G T 0 0 1 SGCD 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +5 155771458 G T 0 0 1 SGCD 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +5 155771579 T C 25 0 100 SGCD 2.0 0 -4 -2 0 0 0 1 0 0 0 0 0 -3 +5 155935708 G A 0 0 9 SGCD 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +5 155935720 T C 0 0 3 SGCD 2.0 0 -2 0 0 0 0 1 0 0 0 0 4 5 +5 156022101 G A 0 0 1 SGCD 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +5 156074654 TAAATTGA T 80 0 186 SGCD 2.0 0 0 -2 0 0 1 0 1 0 0 0 0 2 +5 172659511 C A 12 0 71 na 0 0 0 -2 0 0 1 1 0 0 0 0 0 0 +5 172660004 C T 0 0 4 na 0 -2 -2 -2 0 0 1 1 0 0 0 0 0 -4 +5 172660099 C T 0 0 1 na 0 0 0 2 0 0 1 1 0 0 3 0 0 7 +5 172660523 T A 17 0 98 na 0 0 0 -2 0 0 0 0 1 0 0 0 0 -1 +5 172660527 T A 16 0 85 na 0 0 0 -2 0 0 0 0 1 0 0 0 0 -1 +5 172661690 C T 0 0 1 na 0 0 0 -2 0 0 1 1 1 0 0 0 0 1 +5 172661843 A T 0 0 1 na 0 0 0 2 0 0 1 1 1 0 1.5 0 0 6.5 +5 172662024 T C 5 0 60 na 0 0 -4 -2 0 0 1 1 1 0 0 0 0 -3 +6 7542148 C CA 2 0 23 DSP 2.0 0 -4 -2 0 0 0 2 1 0 0 0 0 -1 +6 7542236 G A 0 0 1 DSP 2.0 4 4 0 0 0 0 1 1 0 1.5 0 0 13.5 +6 7542253 G A 0 0 3 DSP 2.0 -2 -2 -2 0 0 0 1 1 0 0 0 0 -2 +6 7542274 T C 0 0 15 DSP 2.0 0 -4 -2 0 0 0 1 1 0 0 0 0 -2 +6 7556063 C T 0 0 6 DSP 2.0 -2 -2 -2 0 0 0 1 0 0 0 0 0 -3 +6 7558318 T C 8 0 59 DSP 2.0 0 0 -2 0 0 1 1 0 0 0 0 0 2 +6 7563982 C T 0 0 1 DSP 2.0 0 0 2 0 0 0 1 0 0 3 0 0 8 +6 7563983 T G 107 0 214 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7564139 C G 10 0 60 DSP 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +6 7565627 G T 0 0 1 DSP 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +6 7565727 A T 0 0 10 DSP 2.0 4 4 -2 0 0 0 1 0 0 6 0 0 15 +6 7565801 C G 0 0 1 DSP 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +6 7566745 G GA 0 0 4 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7567970 C T 63 0 166 DSP 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +6 7569353 T C 0 0 1 DSP 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +6 7571874 G A 64 0 167 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7572026 T A 19 0 92 DSP 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +6 7572262 A G 64 0 167 DSP 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 7574536 T C 0 0 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0 0 2 +6 112463253 T G 0 0 1 LAMA4 2.0 0 0 2 0 0 0 1 0 0 0 0 0 5 +6 112463419 C T 0 0 1 LAMA4 2.0 4 4 2 0 0 0 1 0 0 1.5 0 0 14.5 +6 112463545 G A 0 0 1 LAMA4 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +6 112466086 C T 0 0 1 LAMA4 2.0 -2 -2 0 0 0 0 1 0 0 0 0 0 -1 +6 112469480 C T 0 0 1 LAMA4 2.0 -2 0 2 0 0 0 1 0 0 0 0 0 3 +6 112471688 G C 8 0 64 LAMA4 2.0 0 0 -2 0 0 1 1 0 0 0 1 0 3 +6 112476210 T C 8 0 63 LAMA4 2.0 0 0 -2 0 0 0 1 0 0 0 1 0 2 +6 112480041 A G 3 0 22 LAMA4 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 112486397 G A 0 0 2 LAMA4 2.0 -2 -2 0 0 0 0 1 0 0 0 0 0 -1 +6 112493774 C T 0 0 2 LAMA4 2.0 0 0 0 0 0 0 0 0 0 0 0 0 2 +6 112493790 T C 1 0 2 LAMA4 2.0 0 0 0 0 0 0 1 0 0 0 0 0 3 +6 112493872 A G 48 0 140 LAMA4 2.0 -4 0 -2 0 0 0 1 1 0 1.5 0 0 -0.5 +6 112496511 C A 0 0 6 LAMA4 2.0 -4 0 -2 0 0 0 1 0 0 0 0 0 -3 +6 112496690 G C 0 0 2 LAMA4 2.0 -4 0 -2 0 0 0 1 0 0 0 0 0 -3 +6 112499245 G A 0 0 2 LAMA4 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 112506375 G A 34 0 111 LAMA4 2.0 0 0 -2 0 0 0 1 0 0 0 0 0 1 +6 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+9 108363426 C T 0 0 8 FKTN 2.0 0 4 -2 0 1 0 1 0 0 6 0 0 12 +9 108366499 G A 0 0 1 FKTN 2.0 0 -4 -2 0 0 0 1 0 0 1.5 0 0 -1.5 +9 108366734 G A 7 0 55 FKTN 2.0 0 -2 -2 0 0 0 1 0 0 1.5 1 0 1.5 +9 108370163 C G 0 0 1 FKTN 2.0 0 0 2 0 0 0 2 0 0 1.5 0 0 7.5 +9 108380223 T A 0 0 2 FKTN 2.0 0 0 2 0 0 0 0 0 0 0 0 0 4 +9 108380355 C A 7 0 55 FKTN 2.0 0 -2 -2 0 0 0 1 0 0 0 0 0 -1 +9 108380417 A G 0 0 4 FKTN 2.0 0 0 -2 0 0 0 0 0 0 0 0 0 0 +9 108397426 T C 0 0 1 FKTN 2.0 0 0 2 0 0 0 1 0 0 6 0 0 11 +9 131707989 G A 0 0 1 DOLK 2.0 0 0 2 0 0 0 2 0 0 3 0 0 9 +9 131708145 T C 0 0 1 DOLK 2.0 0 0 2 0 0 0 1 0 0 1.5 0 0 6.5 +9 131708504 T C 0 0 1 DOLK 2.0 0 0 0 0 0 0 1 0 0 3 0 0 6 +9 131708883 T C 0 0 1 DOLK 2.0 0 0 0 0 0 1 1 1 0 1.5 0 0 6.5 +9 131709581 A AT 0 0 1 DOLK 2.0 0 0 -2 8 0 1 1 1 0 0 0 0 11
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/survival_output.tabular Wed Jul 15 07:55:47 2020 +0000 @@ -0,0 +1,58 @@ +Cut-off PosD PosH FisherPV OR +19 2 0 0.250100280786201 Inf +18.5 2 0 0.250100280786201 Inf +18 5 0 0.0313127006263645 Inf +17.5 5 0 0.0313127006263645 Inf +17 7 0 0.0078417778933267 Inf +16.5 7 0 0.0078417778933267 Inf +16 11 0 0.000492603165855606 Inf +15.5 12 0 0.000246696191605391 Inf +15 25 0 3.11215195435898e-08 Inf +14.5 28 0 3.93232702643646e-09 Inf +14 51 0 5.29606431604379e-16 Inf +13.5 56 0 1.71520405488095e-17 Inf +13 69 0 2.33289390416922e-21 Inf +12.5 89 0 2.7427131879768e-27 Inf +12 108 0 6.69453055095194e-33 Inf +11.5 111 0 8.73739304773998e-34 Inf +11 171 0 2.28487550084062e-51 Inf +10.5 178 0 2.09115393709739e-53 Inf +10 202 0 2.24604775873331e-60 Inf +9.5 205 0 3.0372209633556e-61 Inf +9 242 0 6.38254899134469e-72 Inf +8.5 253 0 4.41163836646206e-75 Inf +8 315 0 8.90745123816794e-93 Inf +7.5 331 0 2.60372055505261e-97 Inf +7 389 0 1.22552343497864e-113 Inf +6.5 438 0 2.6656325002001e-127 Inf +6 525 0 2.86429879704513e-151 Inf +5.5 537 0 1.511809074226e-154 Inf +5 727 0 1.49840929792055e-205 Inf +4.5 757 0 1.86796353337826e-213 Inf +4 936 0 8.23846708803909e-260 Inf +3.5 953 0 3.8317315837381e-264 Inf +3 1223 0 0 Inf +2.5 1275 0 0 Inf +2 1598 0 0 Inf +1.5 1643 0 0 Inf +1 2174 0 0 Inf +0.5 2223 0 0 Inf +0 2748 0 0 Inf +-0.5 2765 0 0 Inf +-1 3081 0 0 Inf +-1.5 3148 0 0 Inf +-2 3398 0 0 Inf +-2.5 3404 0 0 Inf +-3 3592 0 0 Inf +-3.5 3600 0 0 Inf +-4 3632 0 0 Inf +-4.5 3636 0 0 Inf +-5 3695 0 0 Inf +-5.5 3699 0 0 Inf +-6 3715 0 0 Inf +-6.5 3716 0 0 Inf +-7 3732 0 0 Inf +-7.5 3733 0 0 Inf +-8 3737 0 0 Inf +-8.5 3737 0 0 Inf +-9 3739 0 0 Inf
--- a/test-data/test_DCM.csv Wed Jun 17 14:22:50 2020 +0000 +++ /dev/null Thu Jan 01 00:00:00 1970 +0000 @@ -1,1148 +0,0 @@ -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