Mercurial > repos > elixir-it > vinyl
changeset 0:5d1070767d27 draft
Uploaded
| author | elixir-it |
|---|---|
| date | Tue, 09 Jun 2020 16:18:24 +0000 |
| parents | |
| children | da94ac699bfa |
| files | VINYL_M.xml score_complete_alt_M.pl test-data/RIS.vcf |
| diffstat | 3 files changed, 987 insertions(+), 0 deletions(-) [+] |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/VINYL_M.xml Tue Jun 09 16:18:24 2020 +0000 @@ -0,0 +1,124 @@ +<tool id="VINYL" name="VINYL" version="1"> + <description> VINYL, variant scoring. This module computes variants pathogenicity scores on annovar annotated vcf files</description> + <requirements> + <requirement type="package" >perl</requirement> + <requirement type="package" >r-base</requirement> + </requirements> + <command> <![CDATA[ + ### call the .sh to untar the package + perl $__tool_directory__/score_complete_alt_M.pl -vcf $VcfFile + -disease_clinvar $score_DB -score_AF $score_RV -score_functional $score_FE -score_NS $score_NS + -score_nIND $score_OR -AF $AF -scoreeQTL $score_eQ -nind $nind -scoreG $score_AD -scoreT $score_T -scoreGW $score_GW -scoreR $score_R -scoreM $score_M -scoreSP $score_SP -AD $AD -XL $XL + + #if $kfile + -keywords $kfile + #else + -keywords $__tool_directory__/kfile + #end if + + + #if $efile + -effects $efile + #else + -effects $__tool_directory__/efile + #end if + + #if $qfile + -leQTL $qfile + #end if + + #if $disease + -disease $disease + #end if + + #if $similarD + -similarD $similarD + #end if + + #if $lgenes + -lgenes $lgenes + #end if + + -ofile $ofile + -ovcfile $ovcfile + -osummary $osummary + 2>$log +##parametri di input: +## +##"vcf"=>"", #file mandatory, provided at runtime +##"disease"=>"", #name optional +##"similarD"=>"", #file optional +##"lgenes"=>"", #file optional +##"leQTL"=>"qfile", #file mandatory, but default value +##"keywords"=>"kfile", #file mandatory, but default value +##"effects"=>"efile", #file mandatory, but default value +##"disease_clinvar"=>8, #numeric mandadory, but default value +##"score_AF"=>4, #numeric mandatory, but default value +##"score_functional"=>8, #numeric mandatory, but default value +##"score_NS"=>6, #numeric mandatory, but default value +##"score_nIND"=>8, #numeric mandatory, but default value +##"AF"=>0.0001, #numeric mandatory, but default value +##"scoreeQTL"=>1, #numeric mandatory, but default value +##"nind"=>5, #numeric mandatory, but default value +##"scoreG"=>2, #numeric mandatory, but default value + ]]> + </command> + <inputs> + <param format="vcf" name="VcfFile" type="data" label="VCF" help="vcf input file"/> +<!-- default values--> + <param name="score_DB" value="8" min="1" max="20" type="float" label="score_DB" help="Pathogenicity score component. The aggregate score is incremented by this value if variants are annotated as Pathogenic or Likely Pathogenic according to the Clinvar database. Subtracted for variants annotated as Benign or Likely Benign"/> + <param name="score_RV" value="4" min="1" max="20" type="float" label="score_RV" help="Allele Frequency score component. This value is addeded to the total pathogenicity score if the MAF of the variant according public databases of human genetic variants is lower or equal to the value indicated by the AF parameter"/> + <param name="score_FE" value="8" min="1" max="20" type="float" label="score_FE" help="Functional effect score component. For variants that have a predicted functional effect on the protein/mRNA, this score is added to the global pathogenicity score. Functional effects are indicated according to the Annovar annotation system. List of relevant functional effects are provided by the efile parameter "/> + <param name="score_NS" value="6" min="1" max="20" type="float" label="score_NS" help="Disruptive NS score component. This value is summed to the global score if a non-synonymous variant is predicted to have a deleterious effect on the protein according to one or more tools for the prediction of the effect of NS variants (default CADD and Annovar). The score is subtracted if the variant is not deemed to be disruptive according to at least one tool. The list of methods that should be considered for the evaluation of the effect of NS variants is specified by the keywords file"/> + <param name="score_OR" value="8" min="1" max="20" type="float" label="score_OR" help="Over-representation score component. This value is added to the pathogenicity score if a variant that has a MAF<=0.01 according to public databases of human genetic variation is observed in N or more individuals in the dataset. The value of N is specified by nind. As a rule of thumb N should be set to 5-10% of the size of your cohort of individuals" /> + <param name="score_eQ" value="1" min="1" max="20" type="float" label="score_eQ" help="eQTL score component. The global score is incremented by this value is a genetic variant is associated with expression Quantitative Trait Loci (eQTL) according to the GTEx database in a specific tissue. A list of (valid) tissues, according to the GTEx notation, can be provided by the qfile parameter " /> + <param name="score_AD" value="2" min="1" max="20" type="float" label="score_AD" help="Disease Related Gene component of the score. This value is added to the score if variants are associated with genes that are known to be implicated in the diseases. Users can (and are highly encouraged to) provide their list of disease associated genes by the means of the lgenes File"/> + <param name="score_T" value="1" min="1" max="20" type="float" label="score_T" help="Component of the score associated with SNPs that form a transcription factor binding site. This value is added to the global score if the underlying SNP is associated with a TFBS, according to the Ensembl regulatory build or the OregAnno database"/> + <param name="score_M" value="1" min="1" max="20" type="float" label="score_M" help="Component of the score associated with miRNA binding sites. This value is added to the global score if the underlying SNP is associated with a miRNA binding site, according to the Ensembl regulatory build or the OregAnno database"/> + <param name="score_R" value="1" min="1" max="20" type="float" label="score_R" help="Component of the score for SNPs that are incorporated whithin an annotated regulatory region . This value is added to the global score if the underlying SNP is part of an annotated regulatory region according to the Ensembl regulatory build or the OregAnno database"/> + <param name="score_SP" value="1" min="1" max="20" type="float" label="score_SP" help="Component of the score associated with SNPs predicted to have a disruptive effect on splice sites according to the dbscSNV database, version 1.1. This value is added to the global score for SNPs that are predicted to have a deleterious effect."/> + <param name="score_GW" value="1" min="1" max="20" type="float" label="score_GW" help="Component of the score associated with SNPs associated to a phenotypic trait relevant for the disease according to a Genome Wide Association Study (GWAS). This value is added to the cumulative score"/> + <param name="AF" value="0.0001" min="0" max="1" type="float" label="AlleleFrequCutOff" help="Cut off value for the Allele frequency score. The value specified by scoreAF is addeded to the pathogenicity score only for variants that have an allele frequency lower or equal to this cut-off value " /> + <param name="nind" value="5" min="1" max="12" type="integer" label="Nind Cutoff" help="Cut off value for the Over-reprentation score. The value specified by scoreNind is addeded to the pathogenicity score only for variants that have an allele count in the cohort equal to or greater than this value. As a rule of tumb, this should be set to approximately 5-10% of the size of your cohort of individuals"/> + <param name="AD" type="text" value="T" label="Autosomic Dominant" help="If set to T (TRUE) VYNIL assumes an Autosomic Dominant model of inherithance of the disease. If FALSE (F) the model is Autosomic Recessive. Valid values are T=TRUE or F=FALSE Default is T"/> + <param name="XL" type="text" value="F" label="X-linked" help="When T (TRUE) an X-linked model of Disease inheritance is used. Valid values are T=TRUE and F=FALSE. Default is FALSE" /> +<!--optional values --> + <param format="txt" name="kfile" type="data" optional="true" label="keywords file" help="This is a configuration file that specifies the keywords that are used by VINYL for the extraction of relevant annoations from the VCF file and for the computation of the pathogenicity score. Names of these keywords need to match exactly names as used by Annovar. A file with default values is incorporated in VINYL. Custom files can be provided (see Manual for the format) "/> + <param format="txt" name="efile" type="data" optional="true" label="Functional Effects files" help="This configuration file specifies the predicted functional effects for which the value specified by the functional score parameter is added to the global pathogenicity score. See above for further explanations."/> + <param format="txt" name="qfile" type="data" optional="true" label="eQTL file" help="This configuration file provides a list of tissues that are used by VINYL for the annotation of eQTL and the scoring of variants associated with eQTLs in those tissue. Names of tissues need match names used in the GTEx project. See the manual for more details about the format of the file "/> + <param name="disease" type="text" optional="true" label="Disease" help="Name or functional description of the pathological condition. This parameter is used to perform a soft check of the annotation in Clinvar and to identify variants that have been previously implicated in the disease. Highly recommended. Multiple names can be provided using # as a separator. For example cardiomyopathy#dilated specifies the 2 keywords: cardiomyopathy and dilated "/> + <param name="similarD" type="data" format="txt" optional="true" label="Symptoms" help="This file provides a list of symptoms or related keywords that are used by VINYL to screen the Annotations of Clinvar and identify variants that have been implicated in similar pathologies or phenotype. See the manual for a full description of the file format. User are strongly encouraged to provide this file "/> + <param name="lgenes" type="data" format="txt" optional="true" label="List of Disease Genes" help="This file provides a list of genes that have been previously implicated in the disease of in similar pathological conditions. Users are highly recommended to provide this type of information. A full desciption of the format of this file is found in the VYNIL manual" /> +<!--others--> + + </inputs> + <outputs> + <data format="txt" name="log" label="${tool.name} on ${on_string}: log file "/> + <data format="tabular" name="ofile" label="${tool.name} on ${on_string}: tabular " help="Output file in tabular format with VINYL scores" /> + <data format="vcf" name="ovcfile" label="${tool.name} on ${on_string}: VCF " help="Output file in VCF format with VINYL scores"/> + <data format="tabular" name="osummary" label="${tool.name} on ${on_string}: tabular " help="Output file in tabular format with detailed VINYL scores" /> + + </outputs> + <stdio> + </stdio> + <tests> + <test> + <param name="VcfFile" value="RIS.vcf" ftype="vcf" /> + <output name="ofile" file="VINYL_output1_test" ftype="tabular" /> + <output name="ovcfile" file="VINYL_output2_test.vcf" ftype="vcf" /> + <output name="osummary" file="VINYL_output3_test" ftype="tabular" /> + </test> + </tests> + <help> +**What it does** +VINYL is a software designed to assist in variant prioritization in medium-large cohort of patients. The program computes an aggregate score, which is based on an extensive collection of publicly available annoations, in order to identify/prioritize variants that are likely to be pathogenic or have a clinical significance. In order to derive an optimal cut off score for the variants, VINYL uses a strategy based on "survival analysis", where the pathogenicity score distribution of the affected individuals is compared with a matched cohort of unaffected individuals. +To facilitate the usage of the software, VINYL is provided in the form of a public Galaxy instance, based on the Laniakea suite. To ensure the maximum level of security, VINYL uses Encrypted data volumes for the storage of the data. + +**Important Usage Note** +This wrapper provides the module of VINYL that perform score calculation. See the "survival" and the "optimizer" utilities for the delineation of the cut-off score and the optimization of the score components value +A complete workflow that automates the exectuion of VINYL is avaiable at XXX + + </help> + <citations> + </citations> +</tool>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/score_complete_alt_M.pl Tue Jun 09 16:18:24 2020 +0000 @@ -0,0 +1,451 @@ +#!/usr/bin/perl -w +#use strict; + +%arguments= +( +"AD"=>"T", #value mandatory, T==TRUE F==FALSE +"XL"=>"F", #value mandatory, F==FALSE T==TRUE +"vcf"=>"", #file mandatory, provided at runtime +"disease"=>"", #name optional +"similarD"=>"", #file optional +"lgenes"=>"", #file optional +"leQTL"=>"", #file optional +"keywords"=>"kfile", #file mandatory, but default value +"effects"=>"efile", #file mandatory, but default value +"disease_clinvar"=>8, #numeric mandadory, but default value +"score_AF"=>4, #numeric mandatory, but default value +"score_functional"=>8, #numeric mandatory, but default value +"score_NS"=>6, #numeric mandatory, but default value +"score_nIND"=>8, #numeric mandatory, but default value +"AF"=>0.0001, #numeric mandatory, but default value +"scoreeQTL"=>1, #numeric mandatory, but default value +"nind"=>5, #numeric mandatory, but default value +"scoreG"=>2, #numeric mandatory, but default value +"ifile"=>"", #file optional +"scoreT"=>1, #numeric mandatory, but default value +"scoreGW"=>1, #numeric mandatory but default value +"scoreM"=>1, #numeric mandatory but default value +"scoreR"=>1, #numeric mandatory but default value +"scoreSP"=>1, #numeric mandatory but default value +#####OUTPUT file############################################# +"ofile"=>"final_res.csv", #file #OUTPUT #tabulare +"ovcfile"=>"final_res.vcf",#, #file #OUTOUT #vcf +"osummary"=>"detailed_final_res.csv" +); + +@arguments=@ARGV; +for ($i=0;$i<=$#ARGV;$i+=2) +{ + $act=$ARGV[$i]; + $act=~s/-//g; + $val=$ARGV[$i+1]; + if (exists $arguments{$act}) + { + $arguments{$act}=$val; + }else{ + warn("$act: unknown argument\n"); + @valid=keys %arguments; + warn("Valid arguments are @valid\n"); + die("All those moments will be lost in time, like tears in rain.\n Time to die!\n"); + } +} + +$ofile_name=$arguments{"ofile"}; +open(O,">$ofile_name"); +$ovcfile=$arguments{"ovcfile"}; +open(OV,">$ovcfile"); +$osummary_name=$arguments{"osummary"}; +open(OS,">$osummary_name"); +print OS "chr\tstart\tref\talt\tNhom\tNhet\tNind\tGene\tScoreG\tScoreCV\tScoreOth\tScoreAF\tScoreEff\tScoreSP\tScoreTF\tScoremir\tScoreREG\tScoreGWAS\tScoreNS\tScoreQTL\tScoreNi\tScoreT\n"; + +$ifile=$arguments{"ifile"}; +if (-e $ifile) +{ + open(IN,$ifile); + while(<IN>) + { + #($G1,$G2)=(split()); + #push (@{$interact{$G1}},$G2); + } +} + + +$file=$arguments{"vcf"} ; +die ("input file $file not found!\n") unless -e $file; + +$lgenes=$arguments{"lgenes"}; +if (-e $lgenes) +{ + open(IN,$lgenes); + while(<IN>) + { + chomp; + $G=(split())[0]; + $Lgenes{$G}=1; + } +} + + +$kfile=$arguments{"keywords"}; +die ("keyword file $kfile not found!\n") unless -e $kfile; +open(IN,$kfile); +while(<IN>) +{ + chomp; + ($k,$category)=(split())[0,1]; + $specialKeys{$k}=$category; + push (@{$annotKeys{$category}},$k); +} + +$diseaseO=$arguments{"disease"} ? $arguments{"disease"} : "GinocchioValgoDellaLavandaiaZoppa"; +@diseaseO=split(/#/,$diseaseO); + +$sfile=$arguments{"similarD"}; +if (-e $sfile) +{ + open(IN,$sfile); + while(<IN>) + { + chomp; + $Sw=lc($_); + $Sw=~s/\s+//; + push(@kw,$Sw); + } +} + +$efile=$arguments{"effects"}; +die ("effect file $efile not found!\n") unless -e $efile; +open(IN,$efile); +while(<IN>) +{ + chomp; + $effects{$_}=1; +} + +$leQTLfile=$arguments{"leQTL"}; +if (-e $leQTLfile) +{ + open(IN,$leQTLfile); + while(<IN>) + { + chomp(); + $Qlist{$_}=1; + } +} + +$disease_clinvar=$arguments{"disease_clinvar"}; +$score_AF=$arguments{"score_AF"}; +$score_functional=$arguments{"score_functional"}; +$score_NS=$arguments{"score_NS"}; +$score_nIND=$arguments{"score_nIND"}; +$score_QTL=$arguments{"scoreeQTL"}; +$scoreG=$arguments{"scoreG"}; +$scoreM=$arguments{"scoreM"}; +$scoreT=$arguments{"scoreT"}; +$scoreR=$arguments{"scoreR"}; +$scoreGW=$arguments{"scoreGW"}; +$scoreSP=$arguments{"scoreSP"}; + +#print O "CHR\tstart\tgene\tref\talt\tAC\tNhom\tNhet\tNind\tGene\tScoreCV\tScoreOth\tScoreAF\tScoreEff\tScoreNS\tScoreQTL\tScoreNi\tScoreT\n"; +print O "CHR\tstart\tgene\tref\talt\tAC\t"; + +foreach $k (sort keys %specialKeys) +{ + print O "$k\t"; +} +print O "VINYL_score\n"; + + +open(IN,$file); + +#print "$gene_score $disease_HGMD $disease_clinvar $score_functional $score_AF $score_NS $score_eQTL $score_nIND\n"; +while(<IN>) +{ + if ($_=~/^#/) + { + print OV; + next; + } + chomp(); + $summary_line=""; + @val=(split(/\t/)); + $chr=$val[0]; + $start=$val[1]; + $pstart=$val[2]; + $b1=$val[3]; + $b2=$val[4]; + $qscore=$val[5]; + $pb2=$val[6]; + $gene="na"; + $annot=$val[7]; + $gt=$val[8]; + @samples=@val[9..$#val]; + $Nhom=0; + $Nhet=0; + $summary_line.="$chr\t$start\t$b1\t$b2\t"; + foreach $s (@samples) + { + $sid=(split(/\:/,$s))[0]; + next if $sid eq "."; + if ($sid=~/\|/) + { + ($h1,$h2)=(split(/\|/,$sid))[0,1]; + }elsif($sid=~/\//){ + ($h1,$h2)=(split(/\//,$sid))[0,1]; + } + $Nhom++ if $h1==$h2 && $h1 !=0; + $Nhet++ if $h1!=$h2 && ($h1!=0 && $h2!=0) ; + } + $summary_line.="$Nhom\t$Nhet\t"; + $samples=(join("\t",@samples)); + @terms=(split(/\;/,$annot)); + $DIS=0; + if ($_=~/;AC=(\d+);/ || $_=~/\tAC=(\d+);/) + { + $nind=$1; + } + if ($_=~/Gene.refGene=(\w+);/) + { + $gene=$1; + } + $summary_line.="$nind\t$gene\t"; + next if $nind==0; + $gene=(split(/\,/,$gene))[0]; + $i=0; + %keep=(); + $score=0; + $G=0; + if ($Lgenes{$gene}) + { + $score+=$scoreG; + $G=$scoreG; + } + $summary_line.="$G\t"; + foreach $t (@terms) + { + next unless $t; + ($keep,$value)=(split(/\=/,$t))[0,1]; + $value="." unless ($value); + $keep{$keep}=$value; + } + if ($keep{"CLNSIG"} ne "."){ + $scoreO=0; + $scoreC=0; + $add=0; + $add=$disease_clinvar if ($keep{"CLNSIG"} eq "Pathogenic" || $keep{"CLNSIG"} eq "Pathogenic,_other,_risk_factor" || $keep{"CLNSIG"} eq "pathogenic" || $keep{"CLNSIG"} eq "Pathogenic/Likely_pathogenic" ); + $add=$disease_clinvar/2 if ($keep{"CLNSIG"} eq "Likely_pathogenic" || $keep{"CLNSIG"} eq "Conflicting_interpretations_of_pathogenicity" || $keep{"CLNSIG"} eq "likely-pathogenic"); + $add-=$disease_clinvar/4 if ($keep{"CLNSIG"} eq "Likely_benign" || $keep{"CLNSIG"} eq "Benign/Likely_benign"); + $add-=$disease_clinvar/2 if ($keep{"CLNSIG"} eq "Benign"); + @diseases=split(/\|/,$keep{"CLNDN"}); + @databases=split(/\|/,$keep{"CLNDISDB"}); + for ($i=0;$i<=$#diseases;$i++) + { + $dis=lc $diseases[$i]; + $dat=$databases[$i]; + $MDO=0; + foreach $disOL (@diseaseO) + { + $disOL=lc $disOL; + if ($dis=~ /$disOL/) + { + if ($dat=~/OMIM/) + { + $scoreO=$add; + }else{ + $scoreC=$add; + } + $MDO=1; + last; + } + } + if ($MDO==0) + { + foreach $kv (@kw) + { + if ($dis=~/$kv/) + { + $DIS=1 if $add>0; + if ($dat=~/OMIM/) + { + $scoreO=$add; + }else{ + $scoreC=$add; + } + } + } + } + } + $score+=$scoreO+$scoreC; + $summary_line.="$scoreO\t$scoreC\t"; + #duplicate this block for KW annotated + }else{ + $summary_line.="0\t0\t"; + } + @AFkeys=@{$annotKeys{"AF"}}; + $AF=0; + foreach $AFK (@AFkeys) + { + $LOC_af=$keep{$AFK} ? $keep{$AFK} : 0 ; + $LOC_af=0 if $LOC_af eq "."; + $AF=$LOC_af if $LOC_af>$AF; + } + $AF=$AF/20 if ($chr eq "chr1" && ($start==228557681 || $start==228527758 || $start==228525823)); + if ($AF<=$arguments{"AF"}) #0,00002 + { + $score+=$score_AF; + $summary_line.="$score_AF\t"; + }elsif($AF>$arguments{"AF"} && $AF<=$arguments{"AF"}*4){ + $score+=$score_AF/2; + $summary_line.=$score_AF/2 ."\t"; + }elsif($AF>$arguments{"AF"}*4 && $AF<=0.01){ + $summary_line.="0\t"; + }elsif($AF>0.01){ #commonSNP + $score-=$score_AF/2; + $summary_line.=-$score_AF/2 ."\t"; + } + + @EFFkeys=@{$annotKeys{"Effect"}}; + $EFFS=0; + foreach $EFF (@EFFkeys) + { + $effectO=(split(/\;/,$keep{$EFF}))[0]; + $score+=$score_functional if $effects{$effectO}; + $EFFS+=$score_functional if $effects{$effectO}; + } + $summary_line.="$EFFS\t"; + + @SPKeys=@{$annotKeys{"Splice"}}; + $SPs=0; + foreach $SPk (@SPKeys) + { + next if ($keep{$SPk} eq "."); + if($keep{$SPk}>0.6) + { + $score+=$scoreSP/($#SPKeys+1); + $SPs+=$scoreSP/($#SPKeys+1); + } + } + $summary_line.="$SPs\t"; + + $TFscore=0; + @TFBSkeys=@{$annotKeys{"tfbs"}}; + foreach $T (@TFBSkeys) + { + $score+=$scoreT if $keep{$T} ne "."; + $TFscore+=$scoreT if $keep{$T} ne "."; + } + $summary_line.="$TFscore\t"; + + $mirscore=0; + @mirkeys=@{$annotKeys{"mirna"}}; + foreach $M (@mirkeys) + { + $score+=$scoreM if $keep{$M} ne "."; + $mirscore+=$scoreM if $keep{$M} ne "."; + } + $summary_line.="$mirscore\t"; + + $REGscore=0; + @REGkeys=@{$annotKeys{"Reg"}}; + foreach $R (@REGkeys) + { + $score+=$scoreR if $keep{$R} ne "."; + $REGscore+=$scoreR if $keep{$R} ne "."; + } + $summary_line.="$REGscore\t"; + + $GWscore=0; + if ($keep{"GWAS"} ne ".") + { + $GW=$keep{"GWAS"}; + $GW=lc($GW); + @Gs=(split(/\|/,$GW)); + foreach $Gword (@Gs) + { + next if $Gword eq " "; + $Gword=~s/-/ /g; + foreach $kv (@kw) + { + if ($Gword=~/$kv/) + { + $score+=$scoreGW; + $GWscore+=$scoreGW; + last; + } + } + } + + } + $summary_line.="$GWscore\t"; + + $NSa=0; + #print "Exon " . $keep{"ExonicFunc.refGene"}. " $score\n"; #modify here to use kwords in conf file + if ($keep{"ExonicFunc.refGene"} eq "nonsynonymous_SNV") + { + $ND=0; + @NStools=@{$annotKeys{"NStool"}}; + foreach $t (@NStools) + { + $NSscore=$keep{$t}; + next if $NSscore eq "."; + $NSscore="D" if $t=~/CADD/ && $NSscore>=5; + $ND++ if $NSscore eq "D"; + } + + if ($ND==$#NStools+1) + { + $score+=$score_NS; + $NSa+=$score_NS; + }elsif($ND>=($#NStools+1)/2){ + $score+=$score_NS/(($#NStools+1)/2); + $NSa+=$score_NS/(($#NStools+1)/2); + }elsif($ND==0){ + $score+=$score_NS/($#NStools+1); #da commentare. o NS/4 + $NSa+=$score_NS/($#NStools+1); + } + } + $summary_line.="$NSa\t"; + $iQTL=0; + foreach $QTL (keys %Qlist) + { + next unless $keep{$QTL}; + if ($keep{$QTL} ne ".") + { + $score+=$score_QTL; + $iQTL+=$score_QTL; #if ($keep{$QTL} ne "."); + } + + } + $summary_line.="$iQTL\t"; + if ($nind>=$arguments{"nind"} && $AF<=0.01) + { + $score+=$score_nIND; + $summary_line.="$score_nIND\t"; + }elsif($nind>=$arguments{"nind"}/2 && $nind<$arguments{"nind"} && $AF<=0.01){ + $score+=$score_nIND/2; + $summary_line.=$score_nIND/2 ."\t"; + }else{ + $summary_line.="0\t"; + } + chomp(); + chop($_); + $outL=""; + $IS_MAL=0; + foreach $k (sort keys %specialKeys) + { + unless($keep{$k}) + { + #warn("Malformed $_\n"); + warn("please check $k is missing\n"); + $IS_MAL=1; + } + $outL.="$keep{$k}\t"; + } + next if $IS_MAL==1; + $score=$score/2 if $arguments{"AD"} eq "F" && $Nhom==0; + $score=$score/2 if $arguments{"XL"} eq "T" && $chr ne "chrX"; + $summary_line.="$score\n"; + print O "$chr\t$start\t$gene\t$b1\t$b2\t$nind\t$outL$score\n"; #if $score>=12 || $DIS==1; + print OV "$chr\t$start\t$pstart\t$b1\t$b2\t$qscore\t$pb2\t$annot;VINYL_score=$score\t$gt\t$samples\n"; + print OS "$summary_line"; +}
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/RIS.vcf Tue Jun 09 16:18:24 2020 +0000 @@ -0,0 +1,412 @@ +##fileformat=VCFv4.1 +##fileDate=20170629 +##source=freeBayes v0.9.21-26-gbfd9832 +##reference=ucsc.hg19.fasta +##phasing=none +##commandline="/usr/local/bin/freebayes -b DCM_1747.sorted.bam.group.bam -f ucsc.hg19.fasta -t target_cardio.sorted.bed" +##INFO=<ID=NS,Number=1,Type=Integer,Description="Number of samples with data"> +##INFO=<ID=DP,Number=1,Type=Integer,Description="Total read depth at the locus"> +##INFO=<ID=DPB,Number=1,Type=Float,Description="Total read depth per bp at the locus; bases in reads overlapping / bases in haplotype"> +##INFO=<ID=AC,Number=A,Type=Integer,Description="Total number of alternate alleles in called genotypes"> +##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> +##INFO=<ID=AF,Number=A,Type=Float,Description="Estimated allele frequency in the range (0,1]"> +##INFO=<ID=RO,Number=1,Type=Integer,Description="Reference allele observation count, with partial observations recorded fractionally"> +##INFO=<ID=AO,Number=A,Type=Integer,Description="Alternate allele observations, with partial observations recorded fractionally"> +##INFO=<ID=PRO,Number=1,Type=Float,Description="Reference allele observation count, with partial observations recorded fractionally"> +##INFO=<ID=PAO,Number=A,Type=Float,Description="Alternate allele observations, with partial observations recorded fractionally"> +##INFO=<ID=QR,Number=1,Type=Integer,Description="Reference allele quality sum in phred"> +##INFO=<ID=QA,Number=A,Type=Integer,Description="Alternate allele quality sum in phred"> +##INFO=<ID=PQR,Number=1,Type=Float,Description="Reference allele quality sum in phred for partial observations"> +##INFO=<ID=PQA,Number=A,Type=Float,Description="Alternate allele quality sum in phred for partial observations"> +##INFO=<ID=SRF,Number=1,Type=Integer,Description="Number of reference observations on the forward strand"> +##INFO=<ID=SRR,Number=1,Type=Integer,Description="Number of reference observations on the reverse strand"> +##INFO=<ID=SAF,Number=A,Type=Integer,Description="Number of alternate observations on the forward strand"> +##INFO=<ID=SAR,Number=A,Type=Integer,Description="Number of alternate observations on the reverse strand"> +##INFO=<ID=SRP,Number=1,Type=Float,Description="Strand balance probability for the reference allele: Phred-scaled upper-bounds estimate of the probability of observing the deviation between SRF and SRR given E(SRF/SRR) ~ 0.5, derived using Hoeffding's inequality"> +##INFO=<ID=SAP,Number=A,Type=Float,Description="Strand balance probability for the alternate allele: Phred-scaled upper-bounds estimate of the probability of observing the deviation between SAF and SAR given E(SAF/SAR) ~ 0.5, derived using Hoeffding's inequality"> +##INFO=<ID=AB,Number=A,Type=Float,Description="Allele balance at heterozygous sites: a number between 0 and 1 representing the ratio of reads showing the reference allele to all reads, considering only reads from individuals called as heterozygous"> +##INFO=<ID=ABP,Number=A,Type=Float,Description="Allele balance probability at heterozygous sites: Phred-scaled upper-bounds estimate of the probability of observing the deviation between ABR and ABA given E(ABR/ABA) ~ 0.5, derived using Hoeffding's inequality"> +##INFO=<ID=RUN,Number=A,Type=Integer,Description="Run length: the number of consecutive repeats of the alternate allele in the reference genome"> +##INFO=<ID=RPP,Number=A,Type=Float,Description="Read Placement Probability: Phred-scaled upper-bounds estimate of the probability of observing the deviation between RPL and RPR given E(RPL/RPR) ~ 0.5, derived using Hoeffding's inequality"> +##INFO=<ID=RPPR,Number=1,Type=Float,Description="Read Placement Probability for reference observations: Phred-scaled upper-bounds estimate of the probability of observing the deviation between RPL and RPR given E(RPL/RPR) ~ 0.5, derived using Hoeffding's inequality"> +##INFO=<ID=RPL,Number=A,Type=Float,Description="Reads Placed Left: number of reads supporting the alternate balanced to the left (5') of the alternate allele"> +##INFO=<ID=RPR,Number=A,Type=Float,Description="Reads Placed Right: number of reads supporting the alternate balanced to the right (3') of the alternate allele"> +##INFO=<ID=EPP,Number=A,Type=Float,Description="End Placement Probability: Phred-scaled upper-bounds estimate of the probability of observing the deviation between EL and ER given E(EL/ER) ~ 0.5, derived using Hoeffding's inequality"> +##INFO=<ID=EPPR,Number=1,Type=Float,Description="End Placement Probability for reference observations: Phred-scaled upper-bounds estimate of the probability of observing the deviation between EL and ER given E(EL/ER) ~ 0.5, derived using Hoeffding's inequality"> +##INFO=<ID=DPRA,Number=A,Type=Float,Description="Alternate allele depth ratio. Ratio between depth in samples with each called alternate allele and those without."> +##INFO=<ID=ODDS,Number=1,Type=Float,Description="The log odds ratio of the best genotype combination to the second-best."> +##INFO=<ID=GTI,Number=1,Type=Integer,Description="Number of genotyping iterations required to reach convergence or bailout."> +##INFO=<ID=TYPE,Number=A,Type=String,Description="The type of allele, either snp, mnp, ins, del, or complex."> +##INFO=<ID=CIGAR,Number=A,Type=String,Description="The extended CIGAR representation of each alternate allele, with the exception that '=' is replaced by 'M' to ease VCF parsing. Note that INDEL alleles do not have the first matched base (which is provided by default, per the spec) referred to by the CIGAR."> +##INFO=<ID=NUMALT,Number=1,Type=Integer,Description="Number of unique non-reference alleles in called genotypes at this position."> +##INFO=<ID=MEANALT,Number=A,Type=Float,Description="Mean number of unique non-reference allele observations per sample with the corresponding alternate alleles."> +##INFO=<ID=LEN,Number=A,Type=Integer,Description="allele length"> +##INFO=<ID=MQM,Number=A,Type=Float,Description="Mean mapping quality of observed alternate alleles"> +##INFO=<ID=MQMR,Number=1,Type=Float,Description="Mean mapping quality of observed reference alleles"> +##INFO=<ID=PAIRED,Number=A,Type=Float,Description="Proportion of observed alternate alleles which are supported by properly paired read fragments"> +##INFO=<ID=PAIREDR,Number=1,Type=Float,Description="Proportion of observed reference alleles which are supported by properly paired read fragments"> +##INFO=<ID=technology.Illumina-Nextseq,Number=A,Type=Float,Description="Fraction of observations supporting the alternate observed in reads from Illumina-Nextseq"> +##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> +##FORMAT=<ID=GQ,Number=1,Type=Float,Description="Genotype Quality, the Phred-scaled marginal (or unconditional) probability of the called genotype"> +##FORMAT=<ID=GL,Number=G,Type=Float,Description="Genotype Likelihood, log10-scaled likelihoods of the data given the called genotype for each possible genotype generated from the reference and alternate alleles given the sample ploidy"> +##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Read Depth"> +##FORMAT=<ID=RO,Number=1,Type=Integer,Description="Reference allele observation count"> +##FORMAT=<ID=QR,Number=1,Type=Integer,Description="Sum of quality of the reference observations"> +##FORMAT=<ID=AO,Number=A,Type=Integer,Description="Alternate allele observation count"> +##FORMAT=<ID=QA,Number=A,Type=Integer,Description="Sum of quality of the alternate observations"> +##INFO=<ID=ANNOVAR_DATE,Number=1,Type=String,Description="Flag the start of ANNOVAR annotation for one alternative allele"> +##INFO=<ID=Func.refGene,Number=.,Type=String,Description="Func.refGene annotation provided by ANNOVAR"> +##INFO=<ID=Gene.refGene,Number=.,Type=String,Description="Gene.refGene annotation provided by ANNOVAR"> +##INFO=<ID=GeneDetail.refGene,Number=.,Type=String,Description="GeneDetail.refGene annotation provided by ANNOVAR"> +##INFO=<ID=ExonicFunc.refGene,Number=.,Type=String,Description="ExonicFunc.refGene annotation provided by ANNOVAR"> +##INFO=<ID=AAChange.refGene,Number=.,Type=String,Description="AAChange.refGene annotation provided by ANNOVAR"> +##INFO=<ID=cytoBand,Number=.,Type=String,Description="cytoBand annotation provided by ANNOVAR"> +##INFO=<ID=esp6500siv2_all,Number=1,Type=Float,Description="esp6500siv2_all annotation provided by ANNOVAR"> +##INFO=<ID=esp6500siv2_ea,Number=1,Type=Float,Description="esp6500siv2_ea annotation provided by ANNOVAR"> +##INFO=<ID=esp6500siv2_all,Number=1,Type=Float,Description="esp6500siv2_all annotation provided by ANNOVAR"> +##INFO=<ID=esp6500siv2_ea,Number=1,Type=Float,Description="esp6500siv2_ea annotation provided by ANNOVAR"> +##INFO=<ID=1000g2015aug_all,Number=1,Type=Float,Description="1000g2015aug_all annotation provided by ANNOVAR"> +##INFO=<ID=avsnp147,Number=.,Type=String,Description="avsnp147 annotation provided by ANNOVAR"> +##INFO=<ID=Kaviar_AF,Number=.,Type=String,Description="Kaviar_AF annotation provided by ANNOVAR"> +##INFO=<ID=Kaviar_AC,Number=.,Type=String,Description="Kaviar_AC annotation provided by ANNOVAR"> +##INFO=<ID=Kaviar_AN,Number=.,Type=String,Description="Kaviar_AN annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_ALL,Number=.,Type=String,Description="ExAC_ALL annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_AFR,Number=.,Type=String,Description="ExAC_AFR annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_AMR,Number=.,Type=String,Description="ExAC_AMR annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_EAS,Number=.,Type=String,Description="ExAC_EAS annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_FIN,Number=.,Type=String,Description="ExAC_FIN annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_NFE,Number=.,Type=String,Description="ExAC_NFE annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_OTH,Number=.,Type=String,Description="ExAC_OTH annotation provided by ANNOVAR"> +##INFO=<ID=ExAC_SAS,Number=.,Type=String,Description="ExAC_SAS annotation provided by ANNOVAR"> +##INFO=<ID=CLNALLELEID,Number=.,Type=String,Description="CLNALLELEID annotation provided by ANNOVAR"> +##INFO=<ID=CLNDN,Number=.,Type=String,Description="CLNDN annotation provided by ANNOVAR"> +##INFO=<ID=CLNDISDB,Number=.,Type=String,Description="CLNDISDB annotation provided by ANNOVAR"> +##INFO=<ID=CLNREVSTAT,Number=.,Type=String,Description="CLNREVSTAT annotation provided by ANNOVAR"> +##INFO=<ID=CLNSIG,Number=.,Type=String,Description="CLNSIG annotation provided by ANNOVAR"> +##INFO=<ID=SIFT_score,Number=.,Type=String,Description="SIFT_score annotation provided by ANNOVAR"> +##INFO=<ID=SIFT_pred,Number=.,Type=String,Description="SIFT_pred annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HDIV_score,Number=.,Type=String,Description="Polyphen2_HDIV_score annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HDIV_pred,Number=.,Type=String,Description="Polyphen2_HDIV_pred annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HVAR_score,Number=.,Type=String,Description="Polyphen2_HVAR_score annotation provided by ANNOVAR"> +##INFO=<ID=Polyphen2_HVAR_pred,Number=.,Type=String,Description="Polyphen2_HVAR_pred annotation provided by ANNOVAR"> +##INFO=<ID=LRT_score,Number=.,Type=String,Description="LRT_score annotation provided by ANNOVAR"> +##INFO=<ID=LRT_pred,Number=.,Type=String,Description="LRT_pred annotation provided by ANNOVAR"> +##INFO=<ID=MutationTaster_score,Number=.,Type=String,Description="MutationTaster_score annotation provided by ANNOVAR"> +##INFO=<ID=MutationTaster_pred,Number=.,Type=String,Description="MutationTaster_pred annotation provided by ANNOVAR"> +##INFO=<ID=MutationAssessor_score,Number=.,Type=String,Description="MutationAssessor_score annotation provided by ANNOVAR"> +##INFO=<ID=MutationAssessor_pred,Number=.,Type=String,Description="MutationAssessor_pred annotation provided by ANNOVAR"> +##INFO=<ID=FATHMM_score,Number=.,Type=String,Description="FATHMM_score annotation provided by ANNOVAR"> +##INFO=<ID=FATHMM_pred,Number=.,Type=String,Description="FATHMM_pred annotation provided by ANNOVAR"> +##INFO=<ID=PROVEAN_score,Number=.,Type=String,Description="PROVEAN_score annotation provided by ANNOVAR"> +##INFO=<ID=PROVEAN_pred,Number=.,Type=String,Description="PROVEAN_pred annotation provided by ANNOVAR"> +##INFO=<ID=VEST3_score,Number=.,Type=String,Description="VEST3_score annotation provided by ANNOVAR"> +##INFO=<ID=CADD_raw,Number=.,Type=String,Description="CADD_raw annotation provided by ANNOVAR"> +##INFO=<ID=CADD_phred,Number=.,Type=String,Description="CADD_phred annotation provided by ANNOVAR"> +##INFO=<ID=DANN_score,Number=.,Type=String,Description="DANN_score annotation provided by ANNOVAR"> +##INFO=<ID=fathmm-MKL_coding_score,Number=.,Type=String,Description="fathmm-MKL_coding_score annotation provided by ANNOVAR"> +##INFO=<ID=fathmm-MKL_coding_pred,Number=.,Type=String,Description="fathmm-MKL_coding_pred annotation provided by ANNOVAR"> +##INFO=<ID=MetaSVM_score,Number=.,Type=String,Description="MetaSVM_score annotation provided by ANNOVAR"> +##INFO=<ID=MetaSVM_pred,Number=.,Type=String,Description="MetaSVM_pred annotation provided by ANNOVAR"> +##INFO=<ID=MetaLR_score,Number=.,Type=String,Description="MetaLR_score annotation provided by ANNOVAR"> +##INFO=<ID=MetaLR_pred,Number=.,Type=String,Description="MetaLR_pred annotation provided by ANNOVAR"> +##INFO=<ID=integrated_fitCons_score,Number=.,Type=String,Description="integrated_fitCons_score annotation provided by ANNOVAR"> +##INFO=<ID=integrated_confidence_value,Number=.,Type=String,Description="integrated_confidence_value annotation provided by ANNOVAR"> +##INFO=<ID=GERP++_RS,Number=.,Type=String,Description="GERP++_RS annotation provided by ANNOVAR"> +##INFO=<ID=phyloP7way_vertebrate,Number=.,Type=String,Description="phyloP7way_vertebrate annotation provided by ANNOVAR"> +##INFO=<ID=phyloP20way_mammalian,Number=.,Type=String,Description="phyloP20way_mammalian annotation provided by ANNOVAR"> +##INFO=<ID=phastCons7way_vertebrate,Number=.,Type=String,Description="phastCons7way_vertebrate annotation provided by ANNOVAR"> +##INFO=<ID=phastCons20way_mammalian,Number=.,Type=String,Description="phastCons20way_mammalian annotation provided by ANNOVAR"> +##INFO=<ID=SiPhy_29way_logOdds,Number=.,Type=String,Description="SiPhy_29way_logOdds annotation provided by ANNOVAR"> +##INFO=<ID=hgmdPRO,Number=.,Type=String,Description="hgmdPRO annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_exome_ALL,Number=.,Type=String,Description="gnomAD_exome_ALL annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_exome_AFR,Number=.,Type=String,Description="gnomAD_exome_AFR annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_exome_AMR,Number=.,Type=String,Description="gnomAD_exome_AMR annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_exome_ASJ,Number=.,Type=String,Description="gnomAD_exome_ASJ annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_exome_EAS,Number=.,Type=String,Description="gnomAD_exome_EAS annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_exome_FIN,Number=.,Type=String,Description="gnomAD_exome_FIN annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_exome_NFE,Number=.,Type=String,Description="gnomAD_exome_NFE annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_exome_OTH,Number=.,Type=String,Description="gnomAD_exome_OTH annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_exome_SAS,Number=.,Type=String,Description="gnomAD_exome_SAS annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_genome_ALL,Number=.,Type=String,Description="gnomAD_genome_ALL annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_genome_AFR,Number=.,Type=String,Description="gnomAD_genome_AFR annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_genome_AMR,Number=.,Type=String,Description="gnomAD_genome_AMR annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_genome_ASJ,Number=.,Type=String,Description="gnomAD_genome_ASJ annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_genome_EAS,Number=.,Type=String,Description="gnomAD_genome_EAS annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_genome_FIN,Number=.,Type=String,Description="gnomAD_genome_FIN annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_genome_NFE,Number=.,Type=String,Description="gnomAD_genome_NFE annotation provided by ANNOVAR"> +##INFO=<ID=gnomAD_genome_OTH,Number=.,Type=String,Description="gnomAD_genome_OTH annotation provided by ANNOVAR"> +##INFO=<ID=Heart_Atrial_Appendage,Number=.,Type=String,Description="Heart_Atrial_Appendage annotation provided by ANNOVAR"> +##INFO=<ID=Heart_Left_Ventricle,Number=.,Type=String,Description="Heart_Left_Ventricle annotation provided by ANNOVAR"> +##INFO=<ID=ALLELE_END,Number=0,Type=Flag,Description="Flag the end of ANNOVAR annotation for one alternative allele"> +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT DCM_1747 +chr1 3322139 . C T 10208.6 . AB=0.454432;ABP=31.9036;AC=1;AF=0.5;AN=2;AO=728;CIGAR=1X;DP=1602;DPB=1602;DPRA=0;EPP=24.0569;EPPR=3.0533;GTI=0;LEN=1;MEANALT=3;MQM=33.7005;MQMR=34.1139;NS=1;NUMALT=1;ODDS=2350.63;PAIRED=0.866758;PAIREDR=0.866337;PAO=0;PQA=0;PQR=0;PRO=0;QA=19297;QR=24639;RO=808;RPL=420;RPP=40.4264;RPPR=25.757;RPR=308;RUN=1;SAF=332;SAP=15.2278;SAR=396;SRF=396;SRP=3.69829;SRR=412;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon8:c.C1113T:p.C371C,PRDM16:NM_199454:exon8:c.C1113T:p.C371C;cytoBand=1p36.32;esp6500siv2_all=0.0284;esp6500siv2_ea=0.0007;esp6500siv2_all=0.0284;esp6500siv2_ea=0.0007;1000g2015aug_all=0.0277556;avsnp147=rs61745281;Kaviar_AF=0.0078977;Kaviar_AC=1221;Kaviar_AN=154602;ExAC_ALL=0.0081;ExAC_AFR=0.0847;ExAC_AMR=0.0059;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0011;ExAC_OTH=0.0057;ExAC_SAS=6.179e-05;CLNALLELEID=228429;CLNDN=Left_ventricular_noncompaction_8|not_specified;CLNDISDB=MedGen:C3809288,OMIM:615373|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0066;gnomAD_exome_AFR=0.0834;gnomAD_exome_AMR=0.0054;gnomAD_exome_ASJ=0.0030;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0001;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0069;gnomAD_exome_SAS=6.539e-05;gnomAD_genome_ALL=0.0244;gnomAD_genome_AFR=0.0846;gnomAD_genome_AMR=0.0048;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0041;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1602:808:24639:728:19297:-1037.13,0,-1450.74 +chr1 3328358 . T C 8722.72 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=477;CIGAR=1X;DP=490;DPB=490;DPRA=0;EPP=205.686;EPPR=11.6962;GTI=0;LEN=1;MEANALT=3;MQM=25.6101;MQMR=6.75;NS=1;NUMALT=1;ODDS=653.012;PAIRED=0.836478;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=14027;QR=69;RO=4;RPL=280;RPP=34.3715;RPPR=11.6962;RPR=197;RUN=1;SAF=266;SAP=16.7812;SAR=211;SRF=4;SRP=11.6962;SRR=0;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.T1597C:p.S533P,PRDM16:NM_199454:exon9:c.T1597C:p.S533P;cytoBand=1p36.32;esp6500siv2_all=0.8777;esp6500siv2_ea=0.8356;esp6500siv2_all=0.8777;esp6500siv2_ea=0.8356;1000g2015aug_all=0.945088;avsnp147=rs870124;Kaviar_AF=0.871858;Kaviar_AC=134791;Kaviar_AN=154602;ExAC_ALL=0.8897;ExAC_AFR=0.9721;ExAC_AMR=0.9243;ExAC_EAS=0.9998;ExAC_FIN=0.9099;ExAC_NFE=0.8404;ExAC_OTH=0.8873;ExAC_SAS=0.9508;CLNALLELEID=228438;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.656;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.005;LRT_pred=N;MutationTaster_score=0.909;MutationTaster_pred=P;MutationAssessor_score=-0.55;MutationAssessor_pred=N;FATHMM_score=3.42;FATHMM_pred=T;PROVEAN_score=1.41;PROVEAN_pred=N;VEST3_score=0.028;CADD_raw=-0.543;CADD_phred=0.172;DANN_score=0.663;fathmm-MKL_coding_score=0.059;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.955;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=5.33;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.058;phastCons7way_vertebrate=0.956;phastCons20way_mammalian=0.826;SiPhy_29way_logOdds=14.274;hgmdPRO=.;gnomAD_exome_ALL=0.8901;gnomAD_exome_AFR=0.9726;gnomAD_exome_AMR=0.9239;gnomAD_exome_ASJ=0.8534;gnomAD_exome_EAS=0.9997;gnomAD_exome_FIN=0.9133;gnomAD_exome_NFE=0.8350;gnomAD_exome_OTH=0.8740;gnomAD_exome_SAS=0.9500;gnomAD_genome_ALL=0.9008;gnomAD_genome_AFR=0.9696;gnomAD_genome_AMR=0.9332;gnomAD_genome_ASJ=0.86;gnomAD_genome_EAS=0.9994;gnomAD_genome_FIN=0.9196;gnomAD_genome_NFE=0.8459;gnomAD_genome_OTH=0.8794;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:490:4:69:477:14027:-898.434,-142.534,0 +chr1 3328659 . C T 3557.2 . AB=0.407742;ABP=60.3064;AC=1;AF=0.5;AN=2;AO=316;CIGAR=1X;DP=775;DPB=775;DPRA=0;EPP=31.157;EPPR=7.89738;GTI=0;LEN=1;MEANALT=3;MQM=28.1234;MQMR=30.0773;NS=1;NUMALT=1;ODDS=819.075;PAIRED=0.863924;PAIREDR=0.908665;PAO=0;PQA=0;PQR=0;PRO=0;QA=8551;QR=13362;RO=427;RPL=121;RPP=40.64;RPPR=38.0437;RPR=195;RUN=1;SAF=183;SAP=20.1897;SAR=133;SRF=233;SRP=10.7452;SRR=194;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PRDM16:NM_022114:exon9:c.C1898T:p.P633L,PRDM16:NM_199454:exon9:c.C1898T:p.P633L;cytoBand=1p36.32;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1516;esp6500siv2_all=0.1523;esp6500siv2_ea=0.1516;1000g2015aug_all=0.10603;avsnp147=rs2493292;Kaviar_AF=0.126176;Kaviar_AC=19507;Kaviar_AN=154602;ExAC_ALL=0.1310;ExAC_AFR=0.1698;ExAC_AMR=0.0737;ExAC_EAS=0.0108;ExAC_FIN=0.0971;ExAC_NFE=0.1636;ExAC_OTH=0.1594;ExAC_SAS=0.0839;CLNALLELEID=228440;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.035;SIFT_pred=D;Polyphen2_HDIV_score=0.321;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.075;Polyphen2_HVAR_pred=B;LRT_score=0.013;LRT_pred=N;MutationTaster_score=0.097;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=3.58;FATHMM_pred=T;PROVEAN_score=-0.23;PROVEAN_pred=N;VEST3_score=0.054;CADD_raw=3.424;CADD_phred=23.0;DANN_score=0.997;fathmm-MKL_coding_score=0.940;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.906;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=4.18;phyloP7way_vertebrate=-0.029;phyloP20way_mammalian=0.028;phastCons7way_vertebrate=0.912;phastCons20way_mammalian=0.009;SiPhy_29way_logOdds=14.960;hgmdPRO=.;gnomAD_exome_ALL=0.1231;gnomAD_exome_AFR=0.1639;gnomAD_exome_AMR=0.0803;gnomAD_exome_ASJ=0.2228;gnomAD_exome_EAS=0.0107;gnomAD_exome_FIN=0.0990;gnomAD_exome_NFE=0.1563;gnomAD_exome_OTH=0.1523;gnomAD_exome_SAS=0.0762;gnomAD_genome_ALL=0.1349;gnomAD_genome_AFR=0.1632;gnomAD_genome_AMR=0.1026;gnomAD_genome_ASJ=0.1833;gnomAD_genome_EAS=0.0130;gnomAD_genome_FIN=0.1024;gnomAD_genome_NFE=0.1406;gnomAD_genome_OTH=0.1283;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:775:427:13362:316:8551:-375.239,0,-712.61 +chr1 3329384 . C T 3624.61 . AB=0.451937;ABP=16.9956;AC=1;AF=0.5;AN=2;AO=315;CIGAR=1X;DP=697;DPB=697;DPRA=0;EPP=14.5984;EPPR=3.01652;GTI=0;LEN=1;MEANALT=3;MQM=30.0921;MQMR=32.1232;NS=1;NUMALT=1;ODDS=834.596;PAIRED=0.777778;PAIREDR=0.759312;PAO=0;PQA=0;PQR=0;PRO=0;QA=8013;QR=10609;RO=349;RPL=222;RPP=117.726;RPPR=54.5345;RPR=93;RUN=1;SAF=138;SAP=13.4954;SAR=177;SRF=154;SRP=13.4695;SRR=195;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;esp6500siv2_all=0.1383;esp6500siv2_ea=0.1344;esp6500siv2_all=0.1383;esp6500siv2_ea=0.1344;1000g2015aug_all=0.107029;avsnp147=rs2493291;Kaviar_AF=0.0647469;Kaviar_AC=10010;Kaviar_AN=154602;ExAC_ALL=0.2155;ExAC_AFR=0.2521;ExAC_AMR=0.1463;ExAC_EAS=0.0245;ExAC_FIN=0.2381;ExAC_NFE=0.2361;ExAC_OTH=0.3077;ExAC_SAS=0.1181;CLNALLELEID=365234;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1129;gnomAD_exome_AFR=0.1652;gnomAD_exome_AMR=0.0980;gnomAD_exome_ASJ=0.2175;gnomAD_exome_EAS=0.0103;gnomAD_exome_FIN=0.1001;gnomAD_exome_NFE=0.1476;gnomAD_exome_OTH=0.1440;gnomAD_exome_SAS=0.0714;gnomAD_genome_ALL=0.1344;gnomAD_genome_AFR=0.1645;gnomAD_genome_AMR=0.0993;gnomAD_genome_ASJ=0.1821;gnomAD_genome_EAS=0.0129;gnomAD_genome_FIN=0.1022;gnomAD_genome_NFE=0.1392;gnomAD_genome_OTH=0.1235;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:697:349:10609:315:8013:-384.373,0,-572.906 +chr1 3342804 . G T 10615.9 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=708;CIGAR=1X;DP=1416;DPB=1416;DPRA=0;EPP=8.94811;EPPR=8.29285;GTI=0;LEN=1;MEANALT=3;MQM=33.8828;MQMR=33.6093;NS=1;NUMALT=1;ODDS=2444.4;PAIRED=0.951977;PAIREDR=0.95369;PAO=0;PQA=0;PQR=0;PRO=0;QA=19521;QR=20242;RO=691;RPL=467;RPP=159.663;RPPR=58.5981;RPR=241;RUN=1;SAF=211;SAP=253.883;SAR=497;SRF=149;SRP=488.367;SRR=542;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PRDM16;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p36.32;esp6500siv2_all=0.3151;esp6500siv2_ea=0.2724;esp6500siv2_all=0.3151;esp6500siv2_ea=0.2724;1000g2015aug_all=0.379393;avsnp147=rs870171;Kaviar_AF=0.292745;Kaviar_AC=45259;Kaviar_AN=154602;ExAC_ALL=0.2980;ExAC_AFR=0.4221;ExAC_AMR=0.2738;ExAC_EAS=0.4897;ExAC_FIN=0.2227;ExAC_NFE=0.2679;ExAC_OTH=0.3011;ExAC_SAS=0.2917;CLNALLELEID=228464;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2942;gnomAD_exome_AFR=0.4202;gnomAD_exome_AMR=0.2794;gnomAD_exome_ASJ=0.2749;gnomAD_exome_EAS=0.4962;gnomAD_exome_FIN=0.2319;gnomAD_exome_NFE=0.2693;gnomAD_exome_OTH=0.2882;gnomAD_exome_SAS=0.2755;gnomAD_genome_ALL=0.3182;gnomAD_genome_AFR=0.4240;gnomAD_genome_AMR=0.3126;gnomAD_genome_ASJ=0.2748;gnomAD_genome_EAS=0.5156;gnomAD_genome_FIN=0.2263;gnomAD_genome_NFE=0.2621;gnomAD_genome_OTH=0.2577;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1416:691:20242:708:19521:-1112.17,0,-1140.88 +chr1 26392824 . C A 6917.7 . AB=0.445783;ABP=30.5592;AC=1;AF=0.5;AN=2;AO=481;CIGAR=1X;DP=1079;DPB=1079;DPRA=0;EPP=23.2759;EPPR=4.96721;GTI=0;LEN=1;MEANALT=3;MQM=34.6195;MQMR=33.5264;NS=1;NUMALT=1;ODDS=1592.86;PAIRED=0.91684;PAIREDR=0.873935;PAO=0;PQA=0;PQR=0;PRO=0;QA=12930;QR=17762;RO=587;RPL=277;RPP=27.068;RPPR=143.675;RPR=204;RUN=1;SAF=244;SAP=3.23151;SAR=237;SRF=243;SRP=40.7466;SRR=344;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TRIM63;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRIM63:NM_032588:exon2:c.G267T:p.V89V;cytoBand=1p36.11;esp6500siv2_all=0.0611;esp6500siv2_ea=0.0844;esp6500siv2_all=0.0611;esp6500siv2_ea=0.0844;1000g2015aug_all=0.0183706;avsnp147=rs35123100;Kaviar_AF=0.0555814;Kaviar_AC=8593;Kaviar_AN=154602;ExAC_ALL=0.0529;ExAC_AFR=0.0135;ExAC_AMR=0.0286;ExAC_EAS=0;ExAC_FIN=0.0604;ExAC_NFE=0.0801;ExAC_OTH=0.0509;ExAC_SAS=0.0102;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0545;gnomAD_exome_AFR=0.0126;gnomAD_exome_AMR=0.0300;gnomAD_exome_ASJ=0.0541;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0655;gnomAD_exome_NFE=0.0864;gnomAD_exome_OTH=0.0498;gnomAD_exome_SAS=0.0105;gnomAD_genome_ALL=0.0659;gnomAD_genome_AFR=0.0140;gnomAD_genome_AMR=0.0322;gnomAD_genome_ASJ=0.0596;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0698;gnomAD_genome_NFE=0.1033;gnomAD_genome_OTH=0.0825;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0919118::-0.648815;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1079:587:17762:481:12930:-706.447,0,-1025.78 +chr1 74819077 . T G 23990.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=955;CIGAR=1X;DP=971;DPB=971;DPRA=0;EPP=180.005;EPPR=4.78696;GTI=0;LEN=1;MEANALT=3;MQM=38.2932;MQMR=28.4545;NS=1;NUMALT=1;ODDS=1260.58;PAIRED=0.972775;PAIREDR=0.909091;PAO=0;PQA=0;PQR=0;PRO=0;QA=29810;QR=185;RO=11;RPL=687;RPP=402.2;RPPR=7.94546;RPR=268;RUN=1;SAF=368;SAP=112.064;SAR=587;SRF=4;SRP=4.78696;SRR=7;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;esp6500siv2_all=0.9219;esp6500siv2_ea=0.9423;esp6500siv2_all=0.9219;esp6500siv2_ea=0.9423;1000g2015aug_all=0.939097;avsnp147=rs6424586;Kaviar_AF=0.924555;Kaviar_AC=142938;Kaviar_AN=154602;ExAC_ALL=0.9429;ExAC_AFR=0.8883;ExAC_AMR=0.9297;ExAC_EAS=0.9981;ExAC_FIN=0.9186;ExAC_NFE=0.9439;ExAC_OTH=0.9364;ExAC_SAS=0.9637;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9439;gnomAD_exome_AFR=0.8869;gnomAD_exome_AMR=0.9313;gnomAD_exome_ASJ=0.9684;gnomAD_exome_EAS=0.9980;gnomAD_exome_FIN=0.9262;gnomAD_exome_NFE=0.9427;gnomAD_exome_OTH=0.9471;gnomAD_exome_SAS=0.9648;gnomAD_genome_ALL=0.9271;gnomAD_genome_AFR=0.8820;gnomAD_genome_AMR=0.9351;gnomAD_genome_ASJ=0.9801;gnomAD_genome_EAS=0.9988;gnomAD_genome_FIN=0.9337;gnomAD_genome_NFE=0.9419;gnomAD_genome_OTH=0.9395;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:971:11:185:955:29810:-2471.33,-277.197,0 +chr1 75006027 . A G 10520.7 . AB=0.475548;ABP=9.16952;AC=1;AF=0.5;AN=2;AO=564;CIGAR=1X;DP=1186;DPB=1186;DPRA=0;EPP=8.00007;EPPR=3.04293;GTI=0;LEN=1;MEANALT=3;MQM=40.1968;MQMR=40.389;NS=1;NUMALT=1;ODDS=2422.48;PAIRED=0.985816;PAIREDR=0.983306;PAO=0;PQA=0;PQR=0;PRO=0;QA=16504;QR=18701;RO=599;RPL=362;RPP=101.574;RPPR=54.3462;RPR=202;RUN=1;SAF=374;SAP=133.36;SAR=190;SRF=395;SRP=135.26;SRR=204;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FPGT-TNNI3K,TNNI3K;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p31.1;esp6500siv2_all=0.4446;esp6500siv2_ea=0.5560;esp6500siv2_all=0.4446;esp6500siv2_ea=0.5560;1000g2015aug_all=0.324481;avsnp147=rs3895907;Kaviar_AF=0.0032665;Kaviar_AC=505;Kaviar_AN=154602;ExAC_ALL=0.4555;ExAC_AFR=0.2186;ExAC_AMR=0.3397;ExAC_EAS=0.1557;ExAC_FIN=0.4781;ExAC_NFE=0.5609;ExAC_OTH=0.4487;ExAC_SAS=0.4036;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4556;gnomAD_exome_AFR=0.2063;gnomAD_exome_AMR=0.3525;gnomAD_exome_ASJ=0.5908;gnomAD_exome_EAS=0.1568;gnomAD_exome_FIN=0.4829;gnomAD_exome_NFE=0.5610;gnomAD_exome_OTH=0.4848;gnomAD_exome_SAS=0.4050;gnomAD_genome_ALL=0.4299;gnomAD_genome_AFR=0.2194;gnomAD_genome_AMR=0.3768;gnomAD_genome_ASJ=0.5629;gnomAD_genome_EAS=0.1785;gnomAD_genome_FIN=0.4808;gnomAD_genome_NFE=0.5629;gnomAD_genome_OTH=0.5071;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1186:599:18701:564:16504:-1084.08,0,-1261.69 +chr1 78392446 . G A 4475.32 . AB=0.507592;ABP=3.24111;AC=1;AF=0.5;AN=2;AO=234;CIGAR=1X;DP=461;DPB=461;DPRA=0;EPP=24.391;EPPR=4.71718;GTI=0;LEN=1;MEANALT=3;MQM=39.765;MQMR=40.4791;NS=1;NUMALT=1;ODDS=892.543;PAIRED=0.982906;PAIREDR=0.981395;PAO=0;PQA=0;PQR=0;PRO=0;QA=6886;QR=6105;RO=215;RPL=124;RPP=4.82914;RPPR=4.23238;RPR=110;RUN=1;SAF=129;SAP=8.35546;SAR=105;SRF=112;SRP=3.82839;SRR=103;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEXN:NM_001172309:exon7:c.G541A:p.G181R,NEXN:NM_144573:exon8:c.G733A:p.G245R;cytoBand=1p31.1;esp6500siv2_all=0.1578;esp6500siv2_ea=0.2073;esp6500siv2_all=0.1578;esp6500siv2_ea=0.2073;1000g2015aug_all=0.150759;avsnp147=rs1166698;Kaviar_AF=0.0013907;Kaviar_AC=215;Kaviar_AN=154602;ExAC_ALL=0.1846;ExAC_AFR=0.0366;ExAC_AMR=0.1428;ExAC_EAS=0.3947;ExAC_FIN=0.1704;ExAC_NFE=0.2142;ExAC_OTH=0.1737;ExAC_SAS=0.0781;CLNALLELEID=57075;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.025;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=2.63;MutationAssessor_pred=M;FATHMM_score=-0.06;FATHMM_pred=T;PROVEAN_score=-1.41;PROVEAN_pred=N;VEST3_score=0.422;CADD_raw=5.664;CADD_phred=26.7;DANN_score=0.999;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.291;MetaSVM_pred=T;MetaLR_score=0.460;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=5.64;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.925;phastCons20way_mammalian=0.986;SiPhy_29way_logOdds=19.694;hgmdPRO=.;gnomAD_exome_ALL=0.1816;gnomAD_exome_AFR=0.0340;gnomAD_exome_AMR=0.1407;gnomAD_exome_ASJ=0.2171;gnomAD_exome_EAS=0.3942;gnomAD_exome_FIN=0.1628;gnomAD_exome_NFE=0.2106;gnomAD_exome_OTH=0.1837;gnomAD_exome_SAS=0.0771;gnomAD_genome_ALL=0.1653;gnomAD_genome_AFR=0.0400;gnomAD_genome_AMR=0.1671;gnomAD_genome_ASJ=0.2053;gnomAD_genome_EAS=0.3964;gnomAD_genome_FIN=0.1734;gnomAD_genome_NFE=0.2107;gnomAD_genome_OTH=0.1616;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=1 GT:DP:RO:QR:AO:QA:GL 0/1:461:215:6105:234:6886:-457.839,0,-395.393 +chr1 116243877 . G A 27830.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1154;CIGAR=1X;DP=1190;DPB=1190;DPRA=0;EPP=43.1204;EPPR=5.8675;GTI=0;LEN=1;MEANALT=3;MQM=38.3354;MQMR=39;NS=1;NUMALT=1;ODDS=1427.2;PAIRED=0.94974;PAIREDR=0.842105;PAO=0;PQA=0;PQR=0;PRO=0;QA=34925;QR=593;RO=19;RPL=311;RPP=535.574;RPPR=12.2676;RPR=843;RUN=1;SAF=827;SAP=473.433;SAR=327;SRF=12;SRP=5.8675;SRR=7;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon11:c.C1185T:p.D395D;cytoBand=1p13.1;esp6500siv2_all=0.3880;esp6500siv2_ea=0.3573;esp6500siv2_all=0.3880;esp6500siv2_ea=0.3573;1000g2015aug_all=0.425719;avsnp147=rs7413162;Kaviar_AF=0.0005692;Kaviar_AC=88;Kaviar_AN=154602;ExAC_ALL=0.3838;ExAC_AFR=0.4558;ExAC_AMR=0.4505;ExAC_EAS=0.3005;ExAC_FIN=0.4079;ExAC_NFE=0.3619;ExAC_OTH=0.3943;ExAC_SAS=0.4128;CLNALLELEID=53325;CLNDN=Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3813;gnomAD_exome_AFR=0.4508;gnomAD_exome_AMR=0.4390;gnomAD_exome_ASJ=0.4048;gnomAD_exome_EAS=0.2922;gnomAD_exome_FIN=0.3947;gnomAD_exome_NFE=0.3548;gnomAD_exome_OTH=0.4042;gnomAD_exome_SAS=0.4085;gnomAD_genome_ALL=0.3862;gnomAD_genome_AFR=0.4462;gnomAD_genome_AMR=0.4400;gnomAD_genome_ASJ=0.3867;gnomAD_genome_EAS=0.2512;gnomAD_genome_FIN=0.3959;gnomAD_genome_NFE=0.3609;gnomAD_genome_OTH=0.3822;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1190:19:593:1154:34925:-2892.13,-302.196,0 +chr1 116245655 . G C 22223.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=933;CIGAR=1X;DP=962;DPB=962;DPRA=0;EPP=32.729;EPPR=5.9056;GTI=0;LEN=1;MEANALT=3;MQM=37.7621;MQMR=27.75;NS=1;NUMALT=1;ODDS=1211.9;PAIRED=0.943194;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=27148;QR=283;RO=12;RPL=647;RPP=306.321;RPPR=5.9056;RPR=286;RUN=1;SAF=425;SAP=19.0438;SAR=508;SRF=4;SRP=5.9056;SRR=8;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;esp6500siv2_all=0.1829;esp6500siv2_ea=0.2029;esp6500siv2_all=0.1829;esp6500siv2_ea=0.2029;1000g2015aug_all=0.216054;avsnp147=rs12402684;Kaviar_AF=0.196233;Kaviar_AC=30338;Kaviar_AN=154602;ExAC_ALL=0.2328;ExAC_AFR=0.1534;ExAC_AMR=0.2942;ExAC_EAS=0.1705;ExAC_FIN=0.2458;ExAC_NFE=0.2308;ExAC_OTH=0.2211;ExAC_SAS=0.2812;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2167;gnomAD_exome_AFR=0.1432;gnomAD_exome_AMR=0.2479;gnomAD_exome_ASJ=0.2079;gnomAD_exome_EAS=0.1460;gnomAD_exome_FIN=0.2163;gnomAD_exome_NFE=0.2144;gnomAD_exome_OTH=0.2413;gnomAD_exome_SAS=0.2629;gnomAD_genome_ALL=0.1927;gnomAD_genome_AFR=0.1409;gnomAD_genome_AMR=0.2494;gnomAD_genome_ASJ=0.2020;gnomAD_genome_EAS=0.1278;gnomAD_genome_FIN=0.2112;gnomAD_genome_NFE=0.2207;gnomAD_genome_OTH=0.2138;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:962:12:283:933:27148:-2260.02,-264.088,0 +chr1 116260532 . A T 37075.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1599;CIGAR=1X;DP=1677;DPB=1677;DPRA=0;EPP=289.119;EPPR=36.0317;GTI=0;LEN=1;MEANALT=3;MQM=36.9287;MQMR=35.9655;NS=1;NUMALT=1;ODDS=2009.78;PAIRED=0.969981;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=46064;QR=629;RO=29;RPL=711;RPP=45.5557;RPPR=9.07545;RPR=888;RUN=1;SAF=633;SAP=153.6;SAR=966;SRF=17;SRP=4.88226;SRR=12;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;esp6500siv2_all=0.5993;esp6500siv2_ea=0.5505;esp6500siv2_all=0.5993;esp6500siv2_ea=0.5505;1000g2015aug_all=0.642772;avsnp147=rs2997741;Kaviar_AF=0.573414;Kaviar_AC=88651;Kaviar_AN=154602;ExAC_ALL=0.5802;ExAC_AFR=0.6901;ExAC_AMR=0.6426;ExAC_EAS=0.6451;ExAC_FIN=0.5576;ExAC_NFE=0.5441;ExAC_OTH=0.5716;ExAC_SAS=0.5885;CLNALLELEID=249369;CLNDN=Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified;CLNDISDB=MedGen:C2677794,OMIM:611938|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5799;gnomAD_exome_AFR=0.6970;gnomAD_exome_AMR=0.6256;gnomAD_exome_ASJ=0.5373;gnomAD_exome_EAS=0.6413;gnomAD_exome_FIN=0.5538;gnomAD_exome_NFE=0.5478;gnomAD_exome_OTH=0.5909;gnomAD_exome_SAS=0.5843;gnomAD_genome_ALL=0.5863;gnomAD_genome_AFR=0.6866;gnomAD_genome_AMR=0.6283;gnomAD_genome_ASJ=0.5199;gnomAD_genome_EAS=0.6180;gnomAD_genome_FIN=0.5472;gnomAD_genome_NFE=0.5345;gnomAD_genome_OTH=0.5544;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1677:29:629:1599:46064:-3754.26,-436.046,0 +chr1 116260544 . C T 35869.2 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1576;CIGAR=1X;DP=1651;DPB=1651;DPRA=0;EPP=304.79;EPPR=32.0437;GTI=0;LEN=1;MEANALT=3;MQM=36.8458;MQMR=39.6296;NS=1;NUMALT=1;ODDS=1972.57;PAIRED=0.971447;PAIREDR=0.962963;PAO=0;PQA=0;PQR=0;PRO=0;QA=44589;QR=681;RO=27;RPL=775;RPP=3.94172;RPPR=6.95112;RPR=801;RUN=1;SAF=575;SAP=253.055;SAR=1001;SRF=6;SRP=21.1059;SRR=21;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;esp6500siv2_all=0.2264;esp6500siv2_ea=0.2274;esp6500siv2_all=0.2264;esp6500siv2_ea=0.2274;1000g2015aug_all=0.250799;avsnp147=rs3811001;Kaviar_AF=0.231912;Kaviar_AC=35854;Kaviar_AN=154602;ExAC_ALL=0.2359;ExAC_AFR=0.2206;ExAC_AMR=0.2716;ExAC_EAS=0.1573;ExAC_FIN=0.2352;ExAC_NFE=0.2315;ExAC_OTH=0.2362;ExAC_SAS=0.2797;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2363;gnomAD_exome_AFR=0.2195;gnomAD_exome_AMR=0.2651;gnomAD_exome_ASJ=0.2091;gnomAD_exome_EAS=0.1534;gnomAD_exome_FIN=0.2325;gnomAD_exome_NFE=0.2347;gnomAD_exome_OTH=0.2600;gnomAD_exome_SAS=0.2725;gnomAD_genome_ALL=0.2229;gnomAD_genome_AFR=0.2062;gnomAD_genome_AMR=0.2734;gnomAD_genome_ASJ=0.2086;gnomAD_genome_EAS=0.1395;gnomAD_genome_FIN=0.2258;gnomAD_genome_NFE=0.2379;gnomAD_genome_OTH=0.2311;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1651:27:681:1576:44589:-3640.28,-422.785,0 +chr1 116283343 . A G 26681.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1057;CIGAR=1X;DP=1078;DPB=1078;DPRA=0;EPP=172.227;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=38.5279;MQMR=30;NS=1;NUMALT=1;ODDS=1442.96;PAIRED=0.953642;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=33039;QR=82;RO=3;RPL=267;RPP=564.941;RPPR=3.73412;RPR=790;RUN=1;SAF=657;SAP=138.7;SAR=400;SRF=2;SRP=3.73412;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1p13.1;esp6500siv2_all=0.7084;esp6500siv2_ea=0.8780;esp6500siv2_all=0.7084;esp6500siv2_ea=0.8780;1000g2015aug_all=0.64357;avsnp147=rs9428083;Kaviar_AF=0.785559;Kaviar_AC=121449;Kaviar_AN=154602;ExAC_ALL=0.7872;ExAC_AFR=0.3602;ExAC_AMR=0.7652;ExAC_EAS=0.7627;ExAC_FIN=0.8160;ExAC_NFE=0.8689;ExAC_OTH=0.7991;ExAC_SAS=0.7403;CLNALLELEID=53331;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7965;gnomAD_exome_AFR=0.3495;gnomAD_exome_AMR=0.7742;gnomAD_exome_ASJ=0.8469;gnomAD_exome_EAS=0.7659;gnomAD_exome_FIN=0.8132;gnomAD_exome_NFE=0.8748;gnomAD_exome_OTH=0.8062;gnomAD_exome_SAS=0.7465;gnomAD_genome_ALL=0.7101;gnomAD_genome_AFR=0.3715;gnomAD_genome_AMR=0.7763;gnomAD_genome_ASJ=0.8411;gnomAD_genome_EAS=0.8102;gnomAD_genome_FIN=0.8188;gnomAD_genome_NFE=0.8575;gnomAD_genome_OTH=0.8075;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1078:3:82:1057:33039:-2761.18,-312.597,0 +chr1 162313735 . C T 31848 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1455;CIGAR=1X;DP=1577;DPB=1577;DPRA=0;EPP=15.369;EPPR=24.725;GTI=0;LEN=1;MEANALT=3;MQM=37.4997;MQMR=34.325;NS=1;NUMALT=1;ODDS=1723.12;PAIRED=0.908591;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=39515;QR=989;RO=40;RPL=810;RPP=43.6415;RPPR=3.22745;RPR=645;RUN=1;SAF=596;SAP=106.24;SAR=859;SRF=21;SRP=3.22745;SRR=19;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NOS1AP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NOS1AP:NM_001164757:exon6:c.C549T:p.S183S,NOS1AP:NM_014697:exon6:c.C564T:p.S188S;cytoBand=1q23.3;esp6500siv2_all=0.3343;esp6500siv2_ea=0.3571;esp6500siv2_all=0.3343;esp6500siv2_ea=0.3571;1000g2015aug_all=0.430911;avsnp147=rs3751284;Kaviar_AF=0.397168;Kaviar_AC=61403;Kaviar_AN=154602;ExAC_ALL=0.4072;ExAC_AFR=0.2887;ExAC_AMR=0.4933;ExAC_EAS=0.6054;ExAC_FIN=0.4665;ExAC_NFE=0.3647;ExAC_OTH=0.4339;ExAC_SAS=0.4646;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4127;gnomAD_exome_AFR=0.2842;gnomAD_exome_AMR=0.4850;gnomAD_exome_ASJ=0.3893;gnomAD_exome_EAS=0.5968;gnomAD_exome_FIN=0.4691;gnomAD_exome_NFE=0.3580;gnomAD_exome_OTH=0.3949;gnomAD_exome_SAS=0.4626;gnomAD_genome_ALL=0.3718;gnomAD_genome_AFR=0.2970;gnomAD_genome_AMR=0.4414;gnomAD_genome_ASJ=0.3533;gnomAD_genome_EAS=0.6063;gnomAD_genome_FIN=0.4627;gnomAD_genome_NFE=0.3632;gnomAD_genome_OTH=0.4020;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1577:40:989:1455:39515:-3200.56,-370.19,0 +chr1 201328824 . G A 8133.51 . AB=0.431146;ABP=60.1246;AC=1;AF=0.5;AN=2;AO=598;CIGAR=1X;DP=1387;DPB=1387;DPRA=0;EPP=3.2427;EPPR=3.05896;GTI=0;LEN=1;MEANALT=3;MQM=32.689;MQMR=33.8529;NS=1;NUMALT=1;ODDS=1872.81;PAIRED=0.879599;PAIREDR=0.90056;PAO=0;PQA=0;PQR=0;PRO=0;QA=16631;QR=20714;RO=714;RPL=456;RPP=361.035;RPPR=334.205;RPR=142;RUN=1;SAF=229;SAP=74.1823;SAR=369;SRF=275;SRP=84.8085;SRR=439;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;esp6500siv2_all=0.2247;esp6500siv2_ea=0.1020;esp6500siv2_all=0.2247;esp6500siv2_ea=0.1020;1000g2015aug_all=0.277157;avsnp147=rs2275863;Kaviar_AF=0.132896;Kaviar_AC=20546;Kaviar_AN=154602;ExAC_ALL=0.2084;ExAC_AFR=0.5048;ExAC_AMR=0.1369;ExAC_EAS=0.3233;ExAC_FIN=0.2040;ExAC_NFE=0.1326;ExAC_OTH=0.1676;ExAC_SAS=0.2180;CLNALLELEID=249664;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1539;gnomAD_exome_AFR=0.4877;gnomAD_exome_AMR=0.0994;gnomAD_exome_ASJ=0.1377;gnomAD_exome_EAS=0.2712;gnomAD_exome_FIN=0.1335;gnomAD_exome_NFE=0.0985;gnomAD_exome_OTH=0.1518;gnomAD_exome_SAS=0.2044;gnomAD_genome_ALL=0.2177;gnomAD_genome_AFR=0.4689;gnomAD_genome_AMR=0.1184;gnomAD_genome_ASJ=0.1325;gnomAD_genome_EAS=0.2744;gnomAD_genome_FIN=0.1269;gnomAD_genome_NFE=0.0993;gnomAD_genome_OTH=0.1395;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1387:714:20714:598:16631:-868.483,0,-1219.48 +chr1 201334382 . G A 13720.1 . AB=0.462648;ABP=26.5318;AC=1;AF=0.5;AN=2;AO=898;CIGAR=1X;DP=1941;DPB=1941;DPRA=0;EPP=81.3574;EPPR=132.35;GTI=0;LEN=1;MEANALT=3;MQM=34.6425;MQMR=35.4275;NS=1;NUMALT=1;ODDS=3159.18;PAIRED=0.955457;PAIREDR=0.919708;PAO=0;PQA=0;PQR=0;PRO=0;QA=24290;QR=27153;RO=959;RPL=495;RPP=23.4773;RPPR=7.59553;RPR=403;RUN=1;SAF=378;SAP=51.7693;SAR=520;SRF=404;SRP=54.6388;SRR=555;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon8:c.C303T:p.I101I,TNNT2:NM_001001430:exon9:c.C318T:p.I106I,TNNT2:NM_001001431:exon9:c.C318T:p.I106I,TNNT2:NM_001276347:exon9:c.C318T:p.I106I,TNNT2:NM_000364:exon10:c.C348T:p.I116I,TNNT2:NM_001276345:exon10:c.C348T:p.I116I;cytoBand=1q32.1;esp6500siv2_all=0.6828;esp6500siv2_ea=0.7184;esp6500siv2_all=0.6828;esp6500siv2_ea=0.7184;1000g2015aug_all=0.695088;avsnp147=rs3729547;Kaviar_AF=0.712837;Kaviar_AC=110206;Kaviar_AN=154602;ExAC_ALL=0.7194;ExAC_AFR=0.6243;ExAC_AMR=0.7690;ExAC_EAS=0.5480;ExAC_FIN=0.7971;ExAC_NFE=0.7147;ExAC_OTH=0.7775;ExAC_SAS=0.8187;CLNALLELEID=52801;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7237;gnomAD_exome_AFR=0.6147;gnomAD_exome_AMR=0.7649;gnomAD_exome_ASJ=0.7724;gnomAD_exome_EAS=0.5437;gnomAD_exome_FIN=0.7888;gnomAD_exome_NFE=0.7096;gnomAD_exome_OTH=0.7523;gnomAD_exome_SAS=0.8175;gnomAD_genome_ALL=0.6921;gnomAD_genome_AFR=0.6157;gnomAD_genome_AMR=0.7685;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.5336;gnomAD_genome_FIN=0.7944;gnomAD_genome_NFE=0.7202;gnomAD_genome_OTH=0.7454;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1941:959:27153:898:24290:-1395.72,0,-1625.39 +chr1 201338553 . T C 4879.89 . AB=0.51462;ABP=4.28017;AC=1;AF=0.5;AN=2;AO=352;CIGAR=1X;DP=684;DPB=684;DPRA=0;EPP=9.32731;EPPR=25.1271;GTI=0;LEN=1;MEANALT=3;MQM=30.1165;MQMR=33.596;NS=1;NUMALT=1;ODDS=835.261;PAIRED=0.778409;PAIREDR=0.858586;PAO=0;PQA=0;PQR=0;PRO=0;QA=10314;QR=7827;RO=297;RPL=288;RPP=312.544;RPPR=292.547;RPR=64;RUN=1;SAF=132;SAP=50.7827;SAR=220;SRF=108;SRP=50.9801;SRR=189;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;esp6500siv2_all=0.7269;esp6500siv2_ea=0.7219;esp6500siv2_all=0.7269;esp6500siv2_ea=0.7219;1000g2015aug_all=0.734625;avsnp147=rs10800776;Kaviar_AF=0.0237821;Kaviar_AC=619;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.7297;gnomAD_genome_AFR=0.7452;gnomAD_genome_AMR=0.7733;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.5311;gnomAD_genome_FIN=0.7950;gnomAD_genome_NFE=0.7224;gnomAD_genome_OTH=0.7464;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:684:297:7827:352:10314:-535.432,0,-409.84 +chr1 201341341 . C T 4245.54 . AB=0.487379;ABP=3.72288;AC=1;AF=0.5;AN=2;AO=251;CIGAR=1X;DP=515;DPB=515;DPRA=0;EPP=77.8353;EPPR=23.0226;GTI=0;LEN=1;MEANALT=3;MQM=37.7968;MQMR=37.02;NS=1;NUMALT=1;ODDS=977.571;PAIRED=0.964143;PAIREDR=0.944;PAO=0;PQA=0;PQR=0;PRO=0;QA=7154;QR=7822;RO=250;RPL=89;RPP=49.113;RPPR=40.846;RPR=162;RUN=1;SAF=86;SAP=57.003;SAR=165;SRF=95;SRP=34.2795;SRR=155;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q32.1;esp6500siv2_all=0.7208;esp6500siv2_ea=0.7244;esp6500siv2_all=0.7208;esp6500siv2_ea=0.7244;1000g2015aug_all=0.771765;avsnp147=rs868407;Kaviar_AF=0.141499;Kaviar_AC=21876;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.7375;gnomAD_genome_AFR=0.7212;gnomAD_genome_AMR=0.7947;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.7329;gnomAD_genome_FIN=0.8074;gnomAD_genome_NFE=0.7258;gnomAD_genome_OTH=0.7617;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:515:250:7822:251:7154:-449.657,0,-492.134 +chr1 227069677 . T C 6148.62 . AB=0.506596;ABP=3.29677;AC=1;AF=0.5;AN=2;AO=384;CIGAR=1X;DP=758;DPB=758;DPRA=0;EPP=17.1475;EPPR=3.50857;GTI=0;LEN=1;MEANALT=3;MQM=33.1745;MQMR=35.3484;NS=1;NUMALT=1;ODDS=1174.02;PAIRED=0.882812;PAIREDR=0.88102;PAO=0;PQA=0;PQR=0;PRO=0;QA=11115;QR=9422;RO=353;RPL=250;RPP=79.1023;RPPR=118.467;RPR=134;RUN=1;SAF=151;SAP=41.0337;SAR=233;SRF=150;SRP=20.2898;SRR=203;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon4:c.T69C:p.A23A,PSEN2:NM_012486:exon4:c.T69C:p.A23A;cytoBand=1q42.13;esp6500siv2_all=0.7931;esp6500siv2_ea=0.7801;esp6500siv2_all=0.7931;esp6500siv2_ea=0.7801;1000g2015aug_all=0.735623;avsnp147=rs11405;Kaviar_AF=0.755857;Kaviar_AC=116857;Kaviar_AN=154602;ExAC_ALL=0.7603;ExAC_AFR=0.8168;ExAC_AMR=0.7404;ExAC_EAS=0.5626;ExAC_FIN=0.7863;ExAC_NFE=0.7801;ExAC_OTH=0.7841;ExAC_SAS=0.7508;CLNALLELEID=249746;CLNDN=Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7569;gnomAD_exome_AFR=0.8162;gnomAD_exome_AMR=0.7408;gnomAD_exome_ASJ=0.7548;gnomAD_exome_EAS=0.5550;gnomAD_exome_FIN=0.7870;gnomAD_exome_NFE=0.7788;gnomAD_exome_OTH=0.7744;gnomAD_exome_SAS=0.7546;gnomAD_genome_ALL=0.7693;gnomAD_genome_AFR=0.8193;gnomAD_genome_AMR=0.7536;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.5455;gnomAD_genome_FIN=0.7845;gnomAD_genome_NFE=0.7619;gnomAD_genome_OTH=0.7643;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:758:353:9422:384:11115:-635.793,0,-531.402 +chr1 227069737 . C T 2721.69 . AB=0.478261;ABP=4.89854;AC=1;AF=0.5;AN=2;AO=220;CIGAR=1X;DP=460;DPB=460;DPRA=0;EPP=3.642;EPPR=3.16403;GTI=0;LEN=1;MEANALT=3;MQM=33.0955;MQMR=35.469;NS=1;NUMALT=1;ODDS=626.692;PAIRED=0.904545;PAIREDR=0.920354;PAO=0;PQA=0;PQR=0;PRO=0;QA=5769;QR=6507;RO=226;RPL=194;RPP=281.59;RPPR=267.776;RPR=26;RUN=1;SAF=80;SAP=38.5435;SAR=140;SRF=85;SRP=33.1419;SRR=141;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon4:c.C129T:p.N43N,PSEN2:NM_012486:exon4:c.C129T:p.N43N;cytoBand=1q42.13;esp6500siv2_all=0.4895;esp6500siv2_ea=0.5388;esp6500siv2_all=0.4895;esp6500siv2_ea=0.5388;1000g2015aug_all=0.443291;avsnp147=rs6759;Kaviar_AF=0.494392;Kaviar_AC=76434;Kaviar_AN=154602;ExAC_ALL=0.4995;ExAC_AFR=0.3905;ExAC_AMR=0.5145;ExAC_EAS=0.4064;ExAC_FIN=0.5332;ExAC_NFE=0.5425;ExAC_OTH=0.5434;ExAC_SAS=0.4169;CLNALLELEID=249747;CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5025;gnomAD_exome_AFR=0.3796;gnomAD_exome_AMR=0.5185;gnomAD_exome_ASJ=0.6122;gnomAD_exome_EAS=0.4051;gnomAD_exome_FIN=0.5361;gnomAD_exome_NFE=0.5342;gnomAD_exome_OTH=0.5450;gnomAD_exome_SAS=0.4195;gnomAD_genome_ALL=0.4770;gnomAD_genome_AFR=0.3866;gnomAD_genome_AMR=0.5371;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.3888;gnomAD_genome_FIN=0.5358;gnomAD_genome_NFE=0.5173;gnomAD_genome_OTH=0.5072;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:460:226:6507:220:5769:-314.391,0,-382.785 +chr1 227071525 . C T 13865.6 . AB=0.499373;ABP=3.01575;AC=1;AF=0.5;AN=2;AO=796;CIGAR=1X;DP=1594;DPB=1594;DPRA=0;EPP=23.1864;EPPR=9.89763;GTI=0;LEN=1;MEANALT=3;MQM=35.6168;MQMR=37.0674;NS=1;NUMALT=1;ODDS=3192.66;PAIRED=0.834171;PAIREDR=0.821664;PAO=0;PQA=0;PQR=0;PRO=0;QA=23792;QR=24057;RO=757;RPL=535;RPP=207.816;RPPR=198.417;RPR=261;RUN=1;SAF=296;SAP=116.538;SAR=500;SRF=266;SRP=148.229;SRR=491;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.C261T:p.H87H,PSEN2:NM_012486:exon5:c.C261T:p.H87H;cytoBand=1q42.13;esp6500siv2_all=0.4902;esp6500siv2_ea=0.5395;esp6500siv2_all=0.4902;esp6500siv2_ea=0.5395;1000g2015aug_all=0.443291;avsnp147=rs1046240;Kaviar_AF=0.496235;Kaviar_AC=76719;Kaviar_AN=154602;ExAC_ALL=0.4991;ExAC_AFR=0.3877;ExAC_AMR=0.5158;ExAC_EAS=0.4064;ExAC_FIN=0.5331;ExAC_NFE=0.5418;ExAC_OTH=0.5452;ExAC_SAS=0.4170;CLNALLELEID=249748;CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5030;gnomAD_exome_AFR=0.3796;gnomAD_exome_AMR=0.5193;gnomAD_exome_ASJ=0.6124;gnomAD_exome_EAS=0.4051;gnomAD_exome_FIN=0.5363;gnomAD_exome_NFE=0.5348;gnomAD_exome_OTH=0.5458;gnomAD_exome_SAS=0.4194;gnomAD_genome_ALL=0.4774;gnomAD_genome_AFR=0.3867;gnomAD_genome_AMR=0.5383;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.3856;gnomAD_genome_FIN=0.5367;gnomAD_genome_NFE=0.5179;gnomAD_genome_OTH=0.5072;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1594:757:24057:796:23792:-1429.47,0,-1480.93 +chr1 227078955 . T C 7728.72 . AB=0.496676;ABP=3.11135;AC=1;AF=0.5;AN=2;AO=523;CIGAR=1X;DP=1053;DPB=1053;DPRA=0;EPP=40.4817;EPPR=5.60525;GTI=0;LEN=1;MEANALT=3;MQM=33.2199;MQMR=35.9793;NS=1;NUMALT=1;ODDS=1779.6;PAIRED=0.89675;PAIREDR=0.890041;PAO=0;PQA=0;PQR=0;PRO=0;QA=14119;QR=13875;RO=482;RPL=185;RPP=100.203;RPPR=91.3108;RPR=338;RUN=1;SAF=309;SAP=40.4817;SAR=214;SRF=308;SRP=83.9044;SRR=174;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.7801;esp6500siv2_ea=0.7797;esp6500siv2_all=0.7801;esp6500siv2_ea=0.7797;1000g2015aug_all=0.722843;avsnp147=rs2802267;Kaviar_AF=0.741077;Kaviar_AC=114572;Kaviar_AN=154602;ExAC_ALL=0.7643;ExAC_AFR=0.7748;ExAC_AMR=0.7454;ExAC_EAS=0.5929;ExAC_FIN=0.7959;ExAC_NFE=0.7860;ExAC_OTH=0.7900;ExAC_SAS=0.7593;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7556;gnomAD_exome_AFR=0.7691;gnomAD_exome_AMR=0.7395;gnomAD_exome_ASJ=0.7559;gnomAD_exome_EAS=0.5739;gnomAD_exome_FIN=0.7879;gnomAD_exome_NFE=0.7796;gnomAD_exome_OTH=0.7732;gnomAD_exome_SAS=0.7563;gnomAD_genome_ALL=0.7564;gnomAD_genome_AFR=0.7697;gnomAD_genome_AMR=0.7488;gnomAD_genome_ASJ=0.7733;gnomAD_genome_EAS=0.5608;gnomAD_genome_FIN=0.7861;gnomAD_genome_NFE=0.7624;gnomAD_genome_OTH=0.7633;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1053:482:13875:523:14119:-798.572,0,-809.744 +chr1 227081850 . G A 5207.87 . AB=0.451581;ABP=23.6178;AC=1;AF=0.5;AN=2;AO=457;CIGAR=1X;DP=1012;DPB=1012;DPRA=0;EPP=3.81332;EPPR=17.3209;GTI=0;LEN=1;MEANALT=3;MQM=31.8534;MQMR=34.3712;NS=1;NUMALT=1;ODDS=1199.16;PAIRED=0.943107;PAIREDR=0.945233;PAO=0;PQA=0;PQR=0;PRO=0;QA=10859;QR=14738;RO=493;RPL=277;RPP=47.7179;RPPR=49.7388;RPR=180;RUN=1;SAF=193;SAP=26.963;SAR=264;SRF=220;SRP=15.3828;SRR=273;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.5378;esp6500siv2_ea=0.5608;esp6500siv2_all=0.5378;esp6500siv2_ea=0.5608;1000g2015aug_all=0.574081;avsnp147=rs2855562;Kaviar_AF=0.556481;Kaviar_AC=86033;Kaviar_AN=154602;ExAC_ALL=0.5757;ExAC_AFR=0.4945;ExAC_AMR=0.6755;ExAC_EAS=0.6536;ExAC_FIN=0.6065;ExAC_NFE=0.5668;ExAC_OTH=0.6067;ExAC_SAS=0.5375;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5789;gnomAD_exome_AFR=0.4836;gnomAD_exome_AMR=0.6677;gnomAD_exome_ASJ=0.6477;gnomAD_exome_EAS=0.6511;gnomAD_exome_FIN=0.5970;gnomAD_exome_NFE=0.5551;gnomAD_exome_OTH=0.6049;gnomAD_exome_SAS=0.5353;gnomAD_genome_ALL=0.5439;gnomAD_genome_AFR=0.4892;gnomAD_genome_AMR=0.6730;gnomAD_genome_ASJ=0.6457;gnomAD_genome_EAS=0.6568;gnomAD_genome_FIN=0.6025;gnomAD_genome_NFE=0.5390;gnomAD_genome_OTH=0.5680;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1012:493:14738:457:10859:-535.93,0,-867.367 +chr1 228399482 . C G 13391.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=766;CIGAR=1X;DP=795;DPB=795;DPRA=0;EPP=25.9723;EPPR=36.0395;GTI=0;LEN=1;MEANALT=3;MQM=28.3864;MQMR=22.4211;NS=1;NUMALT=1;ODDS=961.265;PAIRED=0.917755;PAIREDR=0.947368;PAO=0;PQA=0;PQR=0;PRO=0;QA=19659;QR=363;RO=19;RPL=302;RPP=77.4073;RPPR=5.8675;RPR=464;RUN=1;SAF=516;SAP=203.591;SAR=250;SRF=8;SRP=4.03889;SRR=11;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=C1orf145;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.6342;esp6500siv2_ea=0.6129;esp6500siv2_all=0.6342;esp6500siv2_ea=0.6129;1000g2015aug_all=0.721046;avsnp147=rs11804508;Kaviar_AF=0.576681;Kaviar_AC=89156;Kaviar_AN=154602;ExAC_ALL=0.6570;ExAC_AFR=0.6684;ExAC_AMR=0.6065;ExAC_EAS=0.8257;ExAC_FIN=0.6696;ExAC_NFE=0.6207;ExAC_OTH=0.6824;ExAC_SAS=0.7884;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6480;gnomAD_exome_AFR=0.6555;gnomAD_exome_AMR=0.5965;gnomAD_exome_ASJ=0.5985;gnomAD_exome_EAS=0.8234;gnomAD_exome_FIN=0.6513;gnomAD_exome_NFE=0.6047;gnomAD_exome_OTH=0.6380;gnomAD_exome_SAS=0.7706;gnomAD_genome_ALL=0.6405;gnomAD_genome_AFR=0.6595;gnomAD_genome_AMR=0.5919;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.8323;gnomAD_genome_FIN=0.6405;gnomAD_genome_NFE=0.6098;gnomAD_genome_OTH=0.6643;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:795:19:363:766:19659:-1367.71,-210.686,0 +chr1 228399766 . T C 10366 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=463;CIGAR=1X;DP=474;DPB=474;DPRA=0;EPP=3.24011;EPPR=11.6962;GTI=0;LEN=1;MEANALT=3;MQM=31.9654;MQMR=36.75;NS=1;NUMALT=1;ODDS=615.75;PAIRED=0.781857;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=14374;QR=96;RO=4;RPL=322;RPP=156.66;RPPR=3.0103;RPR=141;RUN=1;SAF=209;SAP=12.5076;SAR=254;SRF=2;SRP=3.0103;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.T282C:p.A94A,OBSCN:NM_001271223:exon2:c.T282C:p.A94A,OBSCN:NM_052843:exon2:c.T282C:p.A94A;cytoBand=1q42.13;esp6500siv2_all=0.6409;esp6500siv2_ea=0.6178;esp6500siv2_all=0.6409;esp6500siv2_ea=0.6178;1000g2015aug_all=0.726238;avsnp147=rs55971985;Kaviar_AF=0.445602;Kaviar_AC=68891;Kaviar_AN=154602;ExAC_ALL=0.6937;ExAC_AFR=0.6981;ExAC_AMR=0.6408;ExAC_EAS=0.8338;ExAC_FIN=0.7538;ExAC_NFE=0.6233;ExAC_OTH=0.6301;ExAC_SAS=0.7563;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6560;gnomAD_exome_AFR=0.6872;gnomAD_exome_AMR=0.6053;gnomAD_exome_ASJ=0.6068;gnomAD_exome_EAS=0.8068;gnomAD_exome_FIN=0.6433;gnomAD_exome_NFE=0.6077;gnomAD_exome_OTH=0.6439;gnomAD_exome_SAS=0.7632;gnomAD_genome_ALL=0.6463;gnomAD_genome_AFR=0.6803;gnomAD_genome_AMR=0.5941;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.8193;gnomAD_genome_FIN=0.6427;gnomAD_genome_NFE=0.6101;gnomAD_genome_OTH=0.6674;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:474:4:96:463:14374:-1055.55,-132.071,0 +chr1 228402047 . A G 26581.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1327;CIGAR=1X;DP=1356;DPB=1356;DPRA=0;EPP=4.03304;EPPR=5.9056;GTI=0;LEN=1;MEANALT=3;MQM=29.5154;MQMR=22.6667;NS=1;NUMALT=1;ODDS=1768.79;PAIRED=0.887717;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=37260;QR=219;RO=12;RPL=652;RPP=3.87594;RPPR=9.52472;RPR=675;RUN=1;SAF=666;SAP=3.05121;SAR=661;SRF=9;SRP=9.52472;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.A1431G:p.L477L,OBSCN:NM_001271223:exon4:c.A1431G:p.L477L,OBSCN:NM_052843:exon4:c.A1431G:p.L477L;cytoBand=1q42.13;esp6500siv2_all=0.6305;esp6500siv2_ea=0.6095;esp6500siv2_all=0.6305;esp6500siv2_ea=0.6095;1000g2015aug_all=0.719848;avsnp147=rs1620111;Kaviar_AF=0.0035899;Kaviar_AC=555;Kaviar_AN=154602;ExAC_ALL=0.6544;ExAC_AFR=0.6583;ExAC_AMR=0.6030;ExAC_EAS=0.8132;ExAC_FIN=0.6609;ExAC_NFE=0.6132;ExAC_OTH=0.6633;ExAC_SAS=0.7672;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6515;gnomAD_exome_AFR=0.6615;gnomAD_exome_AMR=0.6027;gnomAD_exome_ASJ=0.6049;gnomAD_exome_EAS=0.8094;gnomAD_exome_FIN=0.6582;gnomAD_exome_NFE=0.6117;gnomAD_exome_OTH=0.6406;gnomAD_exome_SAS=0.7665;gnomAD_genome_ALL=0.6403;gnomAD_genome_AFR=0.6612;gnomAD_genome_AMR=0.5919;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.8168;gnomAD_genome_FIN=0.6403;gnomAD_genome_NFE=0.6098;gnomAD_genome_OTH=0.6663;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1356:12:219:1327:37260:-2659.88,-388.457,0 +chr1 228402121 . A G 19396.8 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=967;CIGAR=1X;DP=986;DPB=986;DPRA=0;EPP=91.9374;EPPR=13.8677;GTI=0;LEN=1;MEANALT=3;MQM=30.3278;MQMR=31.4;NS=1;NUMALT=1;ODDS=1303.01;PAIRED=0.918304;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=26890;QR=161;RO=5;RPL=638;RPP=217.42;RPPR=3.44459;RPR=329;RUN=1;SAF=372;SAP=114.681;SAR=595;SRF=2;SRP=3.44459;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon4:c.A1505G:p.Q502R,OBSCN:NM_001271223:exon4:c.A1505G:p.Q502R,OBSCN:NM_052843:exon4:c.A1505G:p.Q502R;cytoBand=1q42.13;esp6500siv2_all=0.6257;esp6500siv2_ea=0.6065;esp6500siv2_all=0.6257;esp6500siv2_ea=0.6065;1000g2015aug_all=0.719649;avsnp147=rs1771487;Kaviar_AF=0.638129;Kaviar_AC=98656;Kaviar_AN=154602;ExAC_ALL=0.6539;ExAC_AFR=0.6577;ExAC_AMR=0.6032;ExAC_EAS=0.8131;ExAC_FIN=0.6616;ExAC_NFE=0.6122;ExAC_OTH=0.6633;ExAC_SAS=0.7671;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.989;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.939;MutationTaster_pred=P;MutationAssessor_score=0.31;MutationAssessor_pred=N;FATHMM_score=-1.0;FATHMM_pred=T;PROVEAN_score=-1.7;PROVEAN_pred=N;VEST3_score=0.247;CADD_raw=3.331;CADD_phred=22.9;DANN_score=0.997;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.001;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.767;integrated_confidence_value=0;GERP++_RS=5.27;phyloP7way_vertebrate=1.062;phyloP20way_mammalian=1.199;phastCons7way_vertebrate=0.987;phastCons20way_mammalian=0.348;SiPhy_29way_logOdds=15.165;hgmdPRO=.;gnomAD_exome_ALL=0.6517;gnomAD_exome_AFR=0.6616;gnomAD_exome_AMR=0.6028;gnomAD_exome_ASJ=0.6046;gnomAD_exome_EAS=0.8095;gnomAD_exome_FIN=0.6583;gnomAD_exome_NFE=0.6117;gnomAD_exome_OTH=0.6398;gnomAD_exome_SAS=0.7663;gnomAD_genome_ALL=0.6403;gnomAD_genome_AFR=0.6600;gnomAD_genome_AMR=0.5923;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.8182;gnomAD_genome_FIN=0.6406;gnomAD_genome_NFE=0.6104;gnomAD_genome_OTH=0.6643;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:986:5:161:967:26890:-1983.94,-281.63,0 +chr1 228431095 . A G 6753.88 . AB=0.467519;ABP=11.6153;AC=1;AF=0.5;AN=2;AO=439;CIGAR=1X;DP=939;DPB=939;DPRA=0;EPP=9.06965;EPPR=17.6865;GTI=0;LEN=1;MEANALT=3;MQM=33.2096;MQMR=33.9677;NS=1;NUMALT=1;ODDS=1555.14;PAIRED=0.911162;PAIREDR=0.909483;PAO=0;PQA=0;PQR=0;PRO=0;QA=12727;QR=13875;RO=464;RPL=298;RPP=124.934;RPPR=92.1343;RPR=141;RUN=1;SAF=141;SAP=124.934;SAR=298;SRF=169;SRP=77.3084;SRR=295;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon10:c.A3141G:p.T1047T,OBSCN:NM_052843:exon10:c.A3141G:p.T1047T,OBSCN:NM_001271223:exon11:c.A3417G:p.T1139T;cytoBand=1q42.13;esp6500siv2_all=0.7003;esp6500siv2_ea=0.6828;esp6500siv2_all=0.7003;esp6500siv2_ea=0.6828;1000g2015aug_all=0.616613;avsnp147=rs1771455;Kaviar_AF=0.640968;Kaviar_AC=99095;Kaviar_AN=154602;ExAC_ALL=0.6499;ExAC_AFR=0.7051;ExAC_AMR=0.6700;ExAC_EAS=0.5783;ExAC_FIN=0.7014;ExAC_NFE=0.6797;ExAC_OTH=0.6205;ExAC_SAS=0.5015;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6494;gnomAD_exome_AFR=0.7020;gnomAD_exome_AMR=0.6802;gnomAD_exome_ASJ=0.6343;gnomAD_exome_EAS=0.5779;gnomAD_exome_FIN=0.6980;gnomAD_exome_NFE=0.6767;gnomAD_exome_OTH=0.6502;gnomAD_exome_SAS=0.5002;gnomAD_genome_ALL=0.6885;gnomAD_genome_AFR=0.7037;gnomAD_genome_AMR=0.6921;gnomAD_genome_ASJ=0.6093;gnomAD_genome_EAS=0.5489;gnomAD_genome_FIN=0.7149;gnomAD_genome_NFE=0.6910;gnomAD_genome_OTH=0.6711;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:939:464:13875:439:12727:-708.852,0,-801.442 +chr1 228433217 . A G 114.358 . AB=0.437659;ABP=16.2767;AC=1;AF=0.5;AN=2;AO=172;CIGAR=1X;DP=393;DPB=393;DPRA=0;EPP=68.4575;EPPR=32.0779;GTI=0;LEN=1;MEANALT=3;MQM=11.4826;MQMR=15.5297;NS=1;NUMALT=1;ODDS=26.3318;PAIRED=0.976744;PAIREDR=0.945545;PAO=0;PQA=0;PQR=0;PRO=0;QA=4881;QR=6205;RO=202;RPL=51;RPP=64.872;RPPR=52.7177;RPR=121;RUN=1;SAF=19;SAP=229.702;SAR=153;SRF=34;SRP=196.035;SRR=168;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon12:c.A3585G:p.T1195T,OBSCN:NM_052843:exon12:c.A3585G:p.T1195T,OBSCN:NM_001271223:exon13:c.A3861G:p.T1287T;cytoBand=1q42.13;esp6500siv2_all=0.6987;esp6500siv2_ea=0.6825;esp6500siv2_all=0.6987;esp6500siv2_ea=0.6825;1000g2015aug_all=0.616613;avsnp147=rs2487384;Kaviar_AF=0.639436;Kaviar_AC=98858;Kaviar_AN=154602;ExAC_ALL=0.6502;ExAC_AFR=0.7041;ExAC_AMR=0.6695;ExAC_EAS=0.5806;ExAC_FIN=0.7014;ExAC_NFE=0.6794;ExAC_OTH=0.6189;ExAC_SAS=0.5038;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6499;gnomAD_exome_AFR=0.7019;gnomAD_exome_AMR=0.6806;gnomAD_exome_ASJ=0.6341;gnomAD_exome_EAS=0.5788;gnomAD_exome_FIN=0.6977;gnomAD_exome_NFE=0.6768;gnomAD_exome_OTH=0.6507;gnomAD_exome_SAS=0.5032;gnomAD_genome_ALL=0.6889;gnomAD_genome_AFR=0.7043;gnomAD_genome_AMR=0.6914;gnomAD_genome_ASJ=0.6093;gnomAD_genome_EAS=0.5509;gnomAD_genome_FIN=0.7152;gnomAD_genome_NFE=0.6913;gnomAD_genome_OTH=0.6724;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:393:202:6205:172:4881:-57.6498,0,-155.007 +chr1 228434395 . T C 2762.58 . AB=0.517172;ABP=4.27809;AC=1;AF=0.5;AN=2;AO=256;CIGAR=1X;DP=495;DPB=495;DPRA=0;EPP=8.74434;EPPR=9.69587;GTI=0;LEN=1;MEANALT=3;MQM=23.7891;MQMR=30.1084;NS=1;NUMALT=1;ODDS=530.357;PAIRED=0.890625;PAIREDR=0.926108;PAO=0;PQA=0;PQR=0;PRO=0;QA=7354;QR=5214;RO=203;RPL=112;RPP=11.6962;RPPR=6.87188;RPR=144;RUN=1;SAF=73;SAP=105.646;SAR=183;SRF=72;SRP=40.2462;SRR=131;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.T3924C:p.A1308A,OBSCN:NM_052843:exon13:c.T3924C:p.A1308A,OBSCN:NM_001271223:exon14:c.T4200C:p.A1400A;cytoBand=1q42.13;esp6500siv2_all=0.6989;esp6500siv2_ea=0.6833;esp6500siv2_all=0.6989;esp6500siv2_ea=0.6833;1000g2015aug_all=0.617612;avsnp147=rs7517088;Kaviar_AF=0.641861;Kaviar_AC=99233;Kaviar_AN=154602;ExAC_ALL=0.6498;ExAC_AFR=0.7052;ExAC_AMR=0.6695;ExAC_EAS=0.5791;ExAC_FIN=0.7016;ExAC_NFE=0.6794;ExAC_OTH=0.6189;ExAC_SAS=0.5013;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6496;gnomAD_exome_AFR=0.7027;gnomAD_exome_AMR=0.6808;gnomAD_exome_ASJ=0.6341;gnomAD_exome_EAS=0.5782;gnomAD_exome_FIN=0.6979;gnomAD_exome_NFE=0.6768;gnomAD_exome_OTH=0.6505;gnomAD_exome_SAS=0.5004;gnomAD_genome_ALL=0.6887;gnomAD_genome_AFR=0.7048;gnomAD_genome_AMR=0.6933;gnomAD_genome_ASJ=0.6093;gnomAD_genome_EAS=0.5508;gnomAD_genome_FIN=0.7148;gnomAD_genome_NFE=0.6906;gnomAD_genome_OTH=0.6714;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:495:203:5214:256:7354:-296.925,0,-243.657 +chr1 228434467 . T C 3099.01 . AB=0.505695;ABP=3.13396;AC=1;AF=0.5;AN=2;AO=222;CIGAR=1X;DP=439;DPB=439;DPRA=0;EPP=11.8136;EPPR=9.83025;GTI=0;LEN=1;MEANALT=3;MQM=30.7658;MQMR=34.2814;NS=1;NUMALT=1;ODDS=601.957;PAIRED=0.963964;PAIREDR=0.929648;PAO=0;PQA=0;PQR=0;PRO=0;QA=6401;QR=5168;RO=199;RPL=125;RPP=10.6789;RPPR=40.9947;RPR=97;RUN=1;SAF=41;SAP=194.726;SAR=181;SRF=52;SRP=101.49;SRR=147;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon13:c.T3996C:p.A1332A,OBSCN:NM_052843:exon13:c.T3996C:p.A1332A,OBSCN:NM_001271223:exon14:c.T4272C:p.A1424A;cytoBand=1q42.13;esp6500siv2_all=0.7295;esp6500siv2_ea=0.6824;esp6500siv2_all=0.7295;esp6500siv2_ea=0.6824;1000g2015aug_all=0.66254;avsnp147=rs7517108;Kaviar_AF=0.658174;Kaviar_AC=101755;Kaviar_AN=154602;ExAC_ALL=0.6689;ExAC_AFR=0.8216;ExAC_AMR=0.7404;ExAC_EAS=0.5954;ExAC_FIN=0.7009;ExAC_NFE=0.6802;ExAC_OTH=0.6258;ExAC_SAS=0.5101;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6681;gnomAD_exome_AFR=0.8207;gnomAD_exome_AMR=0.7421;gnomAD_exome_ASJ=0.6363;gnomAD_exome_EAS=0.5940;gnomAD_exome_FIN=0.6974;gnomAD_exome_NFE=0.6773;gnomAD_exome_OTH=0.6632;gnomAD_exome_SAS=0.5094;gnomAD_genome_ALL=0.7236;gnomAD_genome_AFR=0.8169;gnomAD_genome_AMR=0.7404;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.5741;gnomAD_genome_FIN=0.7149;gnomAD_genome_NFE=0.6917;gnomAD_genome_OTH=0.6782;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:439:199:5168:222:6401:-339.636,0,-283.575 +chr1 228444565 . T A 5572.23 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=351;CIGAR=1X;DP=395;DPB=395;DPRA=0;EPP=155.502;EPPR=9.52472;GTI=0;LEN=1;MEANALT=3;MQM=29.7749;MQMR=35.3333;NS=1;NUMALT=1;ODDS=474.966;PAIRED=0.940171;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=8618;QR=42;RO=3;RPL=77;RPP=243.103;RPPR=3.73412;RPR=274;RUN=1;SAF=100;SAP=144.069;SAR=251;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon15:c.T4523A:p.V1508D,OBSCN:NM_052843:exon15:c.T4523A:p.V1508D,OBSCN:NM_001271223:exon16:c.T4799A:p.V1600D;cytoBand=1q42.13;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs7532342;Kaviar_AF=0.0050646;Kaviar_AC=783;Kaviar_AN=154602;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=-4.01;MutationAssessor_pred=N;FATHMM_score=1.1;FATHMM_pred=T;PROVEAN_score=5.76;PROVEAN_pred=N;VEST3_score=0.295;CADD_raw=0.030;CADD_phred=2.884;DANN_score=0.239;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.939;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=4.6;phyloP7way_vertebrate=0.127;phyloP20way_mammalian=0.200;phastCons7way_vertebrate=0.551;phastCons20way_mammalian=0.008;SiPhy_29way_logOdds=10.586;hgmdPRO=.;gnomAD_exome_ALL=1;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:395:3:42:351:8618:-615.249,-102.821,0 +chr1 228451826 . C T 648.618 . AB=0.443515;ABP=9.63375;AC=1;AF=0.5;AN=2;AO=106;CIGAR=1X;DP=239;DPB=239;DPRA=0;EPP=19.071;EPPR=49.581;GTI=0;LEN=1;MEANALT=3;MQM=25.1981;MQMR=25.2816;NS=1;NUMALT=1;ODDS=149.35;PAIRED=0.943396;PAIREDR=0.902913;PAO=0;PQA=0;PQR=0;PRO=0;QA=2210;QR=2763;RO=103;RPL=56;RPP=3.74778;RPPR=14.1628;RPR=50;RUN=1;SAF=87;SAP=97.7357;SAR=19;SRF=77;SRP=57.8452;SRR=26;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon16:c.C4595T:p.A1532V,OBSCN:NM_052843:exon16:c.C4595T:p.A1532V,OBSCN:NM_001271223:exon18:c.C5147T:p.A1716V;cytoBand=1q42.13;esp6500siv2_all=0.2679;esp6500siv2_ea=0.2810;esp6500siv2_all=0.2679;esp6500siv2_ea=0.2810;1000g2015aug_all=0.30631;avsnp147=rs453140;Kaviar_AF=0.279912;Kaviar_AC=43275;Kaviar_AN=154602;ExAC_ALL=0.2944;ExAC_AFR=0.2505;ExAC_AMR=0.2738;ExAC_EAS=0.4042;ExAC_FIN=0.3589;ExAC_NFE=0.2922;ExAC_OTH=0.2897;ExAC_SAS=0.2611;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.448;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_pred=B;LRT_score=0.628;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.96;MutationAssessor_pred=N;FATHMM_score=3.72;FATHMM_pred=T;PROVEAN_score=0.88;PROVEAN_pred=N;VEST3_score=0.02;CADD_raw=0.352;CADD_phred=6.186;DANN_score=0.718;fathmm-MKL_coding_score=0.014;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.942;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=-1.6;phyloP7way_vertebrate=-0.379;phyloP20way_mammalian=-0.767;phastCons7way_vertebrate=0.089;phastCons20way_mammalian=0.014;SiPhy_29way_logOdds=6.177;hgmdPRO=.;gnomAD_exome_ALL=0.2933;gnomAD_exome_AFR=0.2485;gnomAD_exome_AMR=0.2811;gnomAD_exome_ASJ=0.2382;gnomAD_exome_EAS=0.4012;gnomAD_exome_FIN=0.3522;gnomAD_exome_NFE=0.2892;gnomAD_exome_OTH=0.2858;gnomAD_exome_SAS=0.2600;gnomAD_genome_ALL=0.2987;gnomAD_genome_AFR=0.2592;gnomAD_genome_AMR=0.2780;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.3870;gnomAD_genome_FIN=0.3499;gnomAD_genome_NFE=0.3003;gnomAD_genome_OTH=0.3279;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:239:103:2763:106:2210:-83.2948,0,-97.8162 +chr1 228456385 . G T 104.758 . AB=0.346369;ABP=39.707;AC=1;AF=0.5;AN=2;AO=62;CIGAR=1X;DP=179;DPB=179;DPRA=0;EPP=3.15039;EPPR=20.4596;GTI=0;LEN=1;MEANALT=3;MQM=19.0161;MQMR=19.0714;NS=1;NUMALT=1;ODDS=24.1214;PAIRED=0.806452;PAIREDR=0.767857;PAO=0;PQA=0;PQR=0;PRO=0;QA=1459;QR=3098;RO=112;RPL=19;RPP=23.184;RPPR=63.8115;RPR=43;RUN=1;SAF=33;SAP=3.57068;SAR=29;SRF=45;SRP=12.3942;SRR=67;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon17:c.G5016T:p.V1672V,OBSCN:NM_052843:exon17:c.G5016T:p.V1672V,OBSCN:NM_001271223:exon19:c.G5568T:p.V1856V;cytoBand=1q42.13;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs749485410;Kaviar_AF=6.5e-06;Kaviar_AC=1;Kaviar_AN=154602;ExAC_ALL=8.329e-06;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=1.512e-05;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=4.063e-06;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=8.959e-06;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 0/1:179:112:3098:62:1459:-21.9336,0,-97.9687 +chr1 228461129 . A G 2998.49 . AB=0.460069;ABP=10.9874;AC=1;AF=0.5;AN=2;AO=265;CIGAR=1X;DP=576;DPB=576;DPRA=0;EPP=39.7942;EPPR=8.72511;GTI=0;LEN=1;MEANALT=3;MQM=27.9019;MQMR=30.2347;NS=1;NUMALT=1;ODDS=690.427;PAIRED=0.833962;PAIREDR=0.884477;PAO=0;PQA=0;PQR=0;PRO=0;QA=6730;QR=7836;RO=277;RPL=114;RPP=14.2282;RPPR=5.84027;RPR=151;RUN=1;SAF=95;SAP=49.1029;SAR=170;SRF=101;SRP=47.1061;SRR=176;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon21:c.A6143G:p.H2048R;cytoBand=1q42.13;esp6500siv2_all=0.7357;esp6500siv2_ea=0.6953;esp6500siv2_all=0.7357;esp6500siv2_ea=0.6953;1000g2015aug_all=0.69349;avsnp147=rs1188724;Kaviar_AF=0.680023;Kaviar_AC=105133;Kaviar_AN=154602;ExAC_ALL=0.6908;ExAC_AFR=0.8132;ExAC_AMR=0.7420;ExAC_EAS=0.7286;ExAC_FIN=0.7517;ExAC_NFE=0.6973;ExAC_OTH=0.6432;ExAC_SAS=0.5151;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-0.12;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=0.018;CADD_raw=-0.541;CADD_phred=0.174;DANN_score=0.112;fathmm-MKL_coding_score=0.027;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.004;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-1.1;phyloP7way_vertebrate=-0.385;phyloP20way_mammalian=-1.962;phastCons7way_vertebrate=0.584;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=11.816;hgmdPRO=.;gnomAD_exome_ALL=0.6902;gnomAD_exome_AFR=0.8111;gnomAD_exome_AMR=0.7432;gnomAD_exome_ASJ=0.6409;gnomAD_exome_EAS=0.7290;gnomAD_exome_FIN=0.7484;gnomAD_exome_NFE=0.6933;gnomAD_exome_OTH=0.6762;gnomAD_exome_SAS=0.5153;gnomAD_genome_ALL=0.7432;gnomAD_genome_AFR=0.8083;gnomAD_genome_AMR=0.7464;gnomAD_genome_ASJ=0.6358;gnomAD_genome_EAS=0.7027;gnomAD_genome_FIN=0.7607;gnomAD_genome_NFE=0.7098;gnomAD_genome_OTH=0.7092;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:576:277:7836:265:6730:-316.782,0,-394.469 +chr1 228464248 . T G 8233.91 . AB=0.515391;ABP=5.6171;AC=1;AF=0.5;AN=2;AO=653;CIGAR=1X;DP=1267;DPB=1267;DPRA=0;EPP=107.191;EPPR=48.8671;GTI=0;LEN=1;MEANALT=3;MQM=29.3063;MQMR=33.4444;NS=1;NUMALT=1;ODDS=1723.89;PAIRED=0.859112;PAIREDR=0.873737;PAO=0;PQA=0;PQR=0;PRO=0;QA=17272;QR=14835;RO=594;RPL=313;RPP=5.4345;RPPR=12.1495;RPR=340;RUN=1;SAF=311;SAP=6.20599;SAR=342;SRF=329;SRP=17.984;SRR=265;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6318G:p.D2106E,OBSCN:NM_052843:exon22:c.T6318G:p.D2106E,OBSCN:NM_001271223:exon26:c.T7443G:p.D2481E;cytoBand=1q42.13;esp6500siv2_all=0.7384;esp6500siv2_ea=0.6965;esp6500siv2_all=0.7384;esp6500siv2_ea=0.6965;1000g2015aug_all=0.695487;avsnp147=rs1188721;Kaviar_AF=0.660729;Kaviar_AC=102150;Kaviar_AN=154602;ExAC_ALL=0.6930;ExAC_AFR=0.8190;ExAC_AMR=0.7452;ExAC_EAS=0.7280;ExAC_FIN=0.7555;ExAC_NFE=0.6998;ExAC_OTH=0.6572;ExAC_SAS=0.5172;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.998;MutationTaster_pred=P;MutationAssessor_score=-1.4;MutationAssessor_pred=N;FATHMM_score=3.66;FATHMM_pred=T;PROVEAN_score=1.71;PROVEAN_pred=N;VEST3_score=0.046;CADD_raw=-0.460;CADD_phred=0.276;DANN_score=0.574;fathmm-MKL_coding_score=0.065;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.037;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=-0.623;phyloP7way_vertebrate=-1.863;phyloP20way_mammalian=-0.337;phastCons7way_vertebrate=0.950;phastCons20way_mammalian=0.548;SiPhy_29way_logOdds=7.276;hgmdPRO=.;gnomAD_exome_ALL=0.6914;gnomAD_exome_AFR=0.8154;gnomAD_exome_AMR=0.7458;gnomAD_exome_ASJ=0.6475;gnomAD_exome_EAS=0.7293;gnomAD_exome_FIN=0.7478;gnomAD_exome_NFE=0.6944;gnomAD_exome_OTH=0.6789;gnomAD_exome_SAS=0.5158;gnomAD_genome_ALL=0.7457;gnomAD_genome_AFR=0.8125;gnomAD_genome_AMR=0.75;gnomAD_genome_ASJ=0.6358;gnomAD_genome_EAS=0.7045;gnomAD_genome_FIN=0.7610;gnomAD_genome_NFE=0.7121;gnomAD_genome_OTH=0.7102;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1267:594:14835:653:17272:-843.255,0,-764.399 +chr1 228464276 . T C 6728 . AB=0.468638;ABP=12.5445;AC=1;AF=0.5;AN=2;AO=523;CIGAR=1X;DP=1116;DPB=1116;DPRA=0;EPP=17.4633;EPPR=5.83321;GTI=0;LEN=1;MEANALT=3;MQM=28.8241;MQMR=33.8673;NS=1;NUMALT=1;ODDS=1345.06;PAIRED=0.869981;PAIREDR=0.880769;PAO=0;PQA=0;PQR=0;PRO=0;QA=14828;QR=11893;RO=520;RPL=358;RPP=157.666;RPPR=197.841;RPR=165;RUN=1;SAF=230;SAP=19.4894;SAR=293;SRF=233;SRP=15.1872;SRR=287;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon22:c.T6346C:p.F2116L,OBSCN:NM_052843:exon22:c.T6346C:p.F2116L,OBSCN:NM_001271223:exon26:c.T7471C:p.F2491L;cytoBand=1q42.13;esp6500siv2_all=0.7089;esp6500siv2_ea=0.6960;esp6500siv2_all=0.7089;esp6500siv2_ea=0.6960;1000g2015aug_all=0.663538;avsnp147=rs1188722;Kaviar_AF=0.648944;Kaviar_AC=100328;Kaviar_AN=154602;ExAC_ALL=0.6843;ExAC_AFR=0.7208;ExAC_AMR=0.7400;ExAC_EAS=0.7297;ExAC_FIN=0.7553;ExAC_NFE=0.6993;ExAC_OTH=0.6523;ExAC_SAS=0.5187;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=0.985;MutationTaster_pred=P;MutationAssessor_score=-2.96;MutationAssessor_pred=N;FATHMM_score=3.98;FATHMM_pred=T;PROVEAN_score=2.54;PROVEAN_pred=N;VEST3_score=0.115;CADD_raw=-0.742;CADD_phred=0.058;DANN_score=0.573;fathmm-MKL_coding_score=0.296;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.984;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.455;integrated_confidence_value=0;GERP++_RS=4.23;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=-0.454;phastCons7way_vertebrate=0.052;phastCons20way_mammalian=0.007;SiPhy_29way_logOdds=11.771;hgmdPRO=.;gnomAD_exome_ALL=0.6829;gnomAD_exome_AFR=0.7134;gnomAD_exome_AMR=0.7399;gnomAD_exome_ASJ=0.6380;gnomAD_exome_EAS=0.7298;gnomAD_exome_FIN=0.7473;gnomAD_exome_NFE=0.6931;gnomAD_exome_OTH=0.6715;gnomAD_exome_SAS=0.5151;gnomAD_genome_ALL=0.7177;gnomAD_genome_AFR=0.7154;gnomAD_genome_AMR=0.7416;gnomAD_genome_ASJ=0.6258;gnomAD_genome_EAS=0.7037;gnomAD_genome_FIN=0.7610;gnomAD_genome_NFE=0.7115;gnomAD_genome_OTH=0.7082;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1116:520:11893:523:14828:-699.682,0,-613.675 +chr1 228464842 . C G 3529.52 . AB=0.489758;ABP=3.49959;AC=1;AF=0.5;AN=2;AO=263;CIGAR=1X;DP=537;DPB=537;DPRA=0;EPP=3.21671;EPPR=11.9338;GTI=0;LEN=1;MEANALT=3;MQM=33.8213;MQMR=33.3849;NS=1;NUMALT=1;ODDS=812.703;PAIRED=0.901141;PAIREDR=0.826415;PAO=0;PQA=0;PQR=0;PRO=0;QA=7287;QR=7797;RO=265;RPL=12;RPP=474.633;RPPR=535.84;RPR=251;RUN=1;SAF=134;SAP=3.21671;SAR=129;SRF=117;SRP=10.885;SRR=148;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.7387;esp6500siv2_ea=0.6953;esp6500siv2_all=0.7387;esp6500siv2_ea=0.6953;1000g2015aug_all=0.69369;avsnp147=rs936885;Kaviar_AF=0.594837;Kaviar_AC=91963;Kaviar_AN=154602;ExAC_ALL=0.6935;ExAC_AFR=0.8326;ExAC_AMR=0.7542;ExAC_EAS=0.7475;ExAC_FIN=0.7694;ExAC_NFE=0.7158;ExAC_OTH=0.6606;ExAC_SAS=0.5334;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6853;gnomAD_exome_AFR=0.8185;gnomAD_exome_AMR=0.7484;gnomAD_exome_ASJ=0.6388;gnomAD_exome_EAS=0.7264;gnomAD_exome_FIN=0.7465;gnomAD_exome_NFE=0.6887;gnomAD_exome_OTH=0.6686;gnomAD_exome_SAS=0.5141;gnomAD_genome_ALL=0.7420;gnomAD_genome_AFR=0.8133;gnomAD_genome_AMR=0.7512;gnomAD_genome_ASJ=0.6367;gnomAD_genome_EAS=0.7024;gnomAD_genome_FIN=0.7585;gnomAD_genome_NFE=0.7050;gnomAD_genome_OTH=0.7057;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:537:265:7797:263:7287:-417.994,0,-432.834 +chr1 228465370 . T G 9956.39 . AB=0.518494;ABP=7.50815;AC=1;AF=0.5;AN=2;AO=785;CIGAR=1X;DP=1514;DPB=1514;DPRA=0;EPP=19.4111;EPPR=9.51857;GTI=0;LEN=1;MEANALT=3;MQM=29.8446;MQMR=32.4688;NS=1;NUMALT=1;ODDS=2039.88;PAIRED=0.867516;PAIREDR=0.896601;PAO=0;PQA=0;PQR=0;PRO=0;QA=20854;QR=18433;RO=706;RPL=459;RPP=51.9417;RPPR=310.141;RPR=326;RUN=1;SAF=299;SAP=99.7418;SAR=486;SRF=287;SRP=56.602;SRR=419;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.669529;avsnp147=rs867599;Kaviar_AF=0.655761;Kaviar_AC=101382;Kaviar_AN=154602;ExAC_ALL=0.7209;ExAC_AFR=0.7637;ExAC_AMR=0.7787;ExAC_EAS=0.7850;ExAC_FIN=0.8019;ExAC_NFE=0.7351;ExAC_OTH=0.6969;ExAC_SAS=0.5538;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6904;gnomAD_exome_AFR=0.7334;gnomAD_exome_AMR=0.7421;gnomAD_exome_ASJ=0.6227;gnomAD_exome_EAS=0.7574;gnomAD_exome_FIN=0.7808;gnomAD_exome_NFE=0.6986;gnomAD_exome_OTH=0.6741;gnomAD_exome_SAS=0.5120;gnomAD_genome_ALL=0.7303;gnomAD_genome_AFR=0.7383;gnomAD_genome_AMR=0.7410;gnomAD_genome_ASJ=0.6192;gnomAD_genome_EAS=0.7373;gnomAD_genome_FIN=0.7900;gnomAD_genome_NFE=0.7141;gnomAD_genome_OTH=0.7082;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1514:706:18433:785:20854:-1021.17,0,-932.888 +chr1 228467643 . G A 9490.05 . AB=0.442739;ABP=51.2544;AC=1;AF=0.5;AN=2;AO=750;CIGAR=1X;DP=1694;DPB=1694;DPRA=0;EPP=7.19111;EPPR=23.077;GTI=0;LEN=1;MEANALT=3;MQM=33.6933;MQMR=34.4535;NS=1;NUMALT=1;ODDS=2185.17;PAIRED=0.897333;PAIREDR=0.872315;PAO=0;PQA=0;PQR=0;PRO=0;QA=18231;QR=25550;RO=838;RPL=313;RPP=47.5284;RPPR=94.5956;RPR=437;RUN=1;SAF=395;SAP=7.64277;SAR=355;SRF=472;SRP=32.1257;SRR=366;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon28:c.G7518A:p.T2506T,OBSCN:NM_052843:exon28:c.G7518A:p.T2506T,OBSCN:NM_001271223:exon33:c.G8805A:p.T2935T;cytoBand=1q42.13;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;esp6500siv2_all=0.0002;esp6500siv2_ea=0.0001;1000g2015aug_all=.;avsnp147=rs371605678;Kaviar_AF=0.0001358;Kaviar_AC=21;Kaviar_AN=154602;ExAC_ALL=0.0003;ExAC_AFR=0.0003;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0005;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=8.948e-05;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0003;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0002;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0003;gnomAD_genome_OTH=0;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:1694:838:25550:750:18231:-963.717,0,-1515.6 +chr1 228468458 . G A 1865.43 . AB=0.470982;ABP=6.2869;AC=1;AF=0.5;AN=2;AO=211;CIGAR=1X;DP=448;DPB=448;DPRA=0;EPP=12.9003;EPPR=5.68288;GTI=0;LEN=1;MEANALT=3;MQM=25.7014;MQMR=27.4615;NS=1;NUMALT=1;ODDS=429.531;PAIRED=0.834123;PAIREDR=0.802885;PAO=0;PQA=0;PQR=0;PRO=0;QA=5301;QR=6277;RO=208;RPL=182;RPP=243.92;RPPR=190.467;RPR=29;RUN=1;SAF=79;SAP=31.9187;SAR=132;SRF=75;SRP=38.1297;SRR=133;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon30:c.G8158A:p.V2720M,OBSCN:NM_052843:exon30:c.G8158A:p.V2720M,OBSCN:NM_001271223:exon35:c.G9445A:p.V3149M;cytoBand=1q42.13;esp6500siv2_all=0.2962;esp6500siv2_ea=0.2785;esp6500siv2_all=0.2962;esp6500siv2_ea=0.2785;1000g2015aug_all=0.31889;avsnp147=rs1188697;Kaviar_AF=0.288424;Kaviar_AC=44591;Kaviar_AN=154602;ExAC_ALL=0.3004;ExAC_AFR=0.4028;ExAC_AMR=0.2863;ExAC_EAS=0.2060;ExAC_FIN=0.3870;ExAC_NFE=0.3115;ExAC_OTH=0.2897;ExAC_SAS=0.2283;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.141;SIFT_pred=T;Polyphen2_HDIV_score=0.998;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.862;Polyphen2_HVAR_pred=P;LRT_score=0.408;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.61;MutationAssessor_pred=L;FATHMM_score=-0.61;FATHMM_pred=T;PROVEAN_score=-1.1;PROVEAN_pred=N;VEST3_score=0.444;CADD_raw=1.572;CADD_phred=13.70;DANN_score=0.989;fathmm-MKL_coding_score=0.057;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.998;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=0.451;phyloP7way_vertebrate=0.067;phyloP20way_mammalian=0.134;phastCons7way_vertebrate=0.336;phastCons20way_mammalian=0.474;SiPhy_29way_logOdds=8.559;hgmdPRO=.;gnomAD_exome_ALL=0.2947;gnomAD_exome_AFR=0.3907;gnomAD_exome_AMR=0.2927;gnomAD_exome_ASJ=0.2392;gnomAD_exome_EAS=0.2020;gnomAD_exome_FIN=0.3793;gnomAD_exome_NFE=0.3061;gnomAD_exome_OTH=0.2924;gnomAD_exome_SAS=0.2259;gnomAD_genome_ALL=0.3390;gnomAD_genome_AFR=0.3926;gnomAD_genome_AMR=0.2859;gnomAD_genome_ASJ=0.2550;gnomAD_genome_EAS=0.2020;gnomAD_genome_FIN=0.3732;gnomAD_genome_NFE=0.3193;gnomAD_genome_OTH=0.3385;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:448:208:6277:211:5301:-224.31,0,-289.214 +chr1 228470995 . G T 5128.95 . AB=0.438285;ABP=34.6375;AC=1;AF=0.5;AN=2;AO=419;CIGAR=1X;DP=956;DPB=956;DPRA=0;EPP=38.7126;EPPR=8.3002;GTI=0;LEN=1;MEANALT=3;MQM=33.9809;MQMR=35.1654;NS=1;NUMALT=1;ODDS=1180.98;PAIRED=0.914081;PAIREDR=0.906015;PAO=0;PQA=0;PQR=0;PRO=0;QA=11021;QR=15825;RO=532;RPL=347;RPP=394.938;RPPR=420.978;RPR=72;RUN=1;SAF=128;SAP=140.704;SAR=291;SRF=180;SRP=123.764;SRR=352;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.3080;esp6500siv2_ea=0.2859;esp6500siv2_all=0.3080;esp6500siv2_ea=0.2859;1000g2015aug_all=0.318091;avsnp147=rs1150906;Kaviar_AF=0.217817;Kaviar_AC=33675;Kaviar_AN=154602;ExAC_ALL=0.3453;ExAC_AFR=0.4437;ExAC_AMR=0.3748;ExAC_EAS=0.3027;ExAC_FIN=0.4841;ExAC_NFE=0.3709;ExAC_OTH=0.3190;ExAC_SAS=0.2534;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2890;gnomAD_exome_AFR=0.3870;gnomAD_exome_AMR=0.2948;gnomAD_exome_ASJ=0.2404;gnomAD_exome_EAS=0.2011;gnomAD_exome_FIN=0.3768;gnomAD_exome_NFE=0.2972;gnomAD_exome_OTH=0.2827;gnomAD_exome_SAS=0.2266;gnomAD_genome_ALL=0.3393;gnomAD_genome_AFR=0.3950;gnomAD_genome_AMR=0.2876;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.2016;gnomAD_genome_FIN=0.3734;gnomAD_genome_NFE=0.3185;gnomAD_genome_OTH=0.3361;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:956:532:15825:419:11021:-583.843,0,-966.493 +chr1 228475848 . G A 5689.71 . AB=0.453501;ABP=20.9834;AC=1;AF=0.5;AN=2;AO=434;CIGAR=1X;DP=957;DPB=957;DPRA=0;EPP=13.5975;EPPR=5.71759;GTI=0;LEN=1;MEANALT=3;MQM=31.9608;MQMR=33.9437;NS=1;NUMALT=1;ODDS=1310.1;PAIRED=0.898618;PAIREDR=0.885281;PAO=0;PQA=0;PQR=0;PRO=0;QA=11370;QR=13798;RO=462;RPL=275;RPP=70.336;RPPR=11.3014;RPR=159;RUN=1;SAF=161;SAP=65.7729;SAR=273;SRF=163;SRP=89.9444;SRR=299;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon37:c.G9898A:p.A3300T,OBSCN:NM_052843:exon37:c.G9898A:p.A3300T,OBSCN:NM_001271223:exon42:c.G11185A:p.A3729T;cytoBand=1q42.13;esp6500siv2_all=0.3055;esp6500siv2_ea=0.2973;esp6500siv2_all=0.3055;esp6500siv2_ea=0.2973;1000g2015aug_all=0.302716;avsnp147=rs437129;Kaviar_AF=0.289078;Kaviar_AC=44692;Kaviar_AN=154602;ExAC_ALL=0.2923;ExAC_AFR=0.3499;ExAC_AMR=0.2816;ExAC_EAS=0.2052;ExAC_FIN=0.3863;ExAC_NFE=0.3041;ExAC_OTH=0.2833;ExAC_SAS=0.2265;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.424;SIFT_pred=T;Polyphen2_HDIV_score=0.968;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.855;Polyphen2_HVAR_pred=P;LRT_score=0.493;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=2.22;MutationAssessor_pred=M;FATHMM_score=-0.21;FATHMM_pred=T;PROVEAN_score=-1.21;PROVEAN_pred=N;VEST3_score=0.22;CADD_raw=4.107;CADD_phred=23.7;DANN_score=0.998;fathmm-MKL_coding_score=0.363;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.972;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=4.99;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.045;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.515;SiPhy_29way_logOdds=10.701;hgmdPRO=.;gnomAD_exome_ALL=0.2908;gnomAD_exome_AFR=0.3469;gnomAD_exome_AMR=0.2902;gnomAD_exome_ASJ=0.2390;gnomAD_exome_EAS=0.2017;gnomAD_exome_FIN=0.3788;gnomAD_exome_NFE=0.3017;gnomAD_exome_OTH=0.2916;gnomAD_exome_SAS=0.2270;gnomAD_genome_ALL=0.3248;gnomAD_genome_AFR=0.3473;gnomAD_genome_AMR=0.2847;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.2027;gnomAD_genome_FIN=0.3728;gnomAD_genome_NFE=0.3168;gnomAD_genome_OTH=0.3354;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:957:462:13798:434:11370:-591.177,0,-784.818 +chr1 228480282 . A G 1184.39 . AB=0.443038;ABP=18.5954;AC=1;AF=0.5;AN=2;AO=245;CIGAR=1X;DP=553;DPB=553;DPRA=0;EPP=83.0003;EPPR=35.8937;GTI=0;LEN=1;MEANALT=3;MQM=17.2571;MQMR=20.8315;NS=1;NUMALT=1;ODDS=272.716;PAIRED=0.922449;PAIREDR=0.910394;PAO=0;PQA=0;PQR=0;PRO=0;QA=6850;QR=8011;RO=279;RPL=180;RPP=120.225;RPPR=136.575;RPR=65;RUN=1;SAF=195;SAP=189.358;SAR=50;SRF=210;SRP=157.745;SRR=69;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon40:c.A10662G:p.T3554T,OBSCN:NM_052843:exon40:c.A10662G:p.T3554T,OBSCN:NM_001271223:exon45:c.A11949G:p.T3983T;cytoBand=1q42.13;esp6500siv2_all=0.7438;esp6500siv2_ea=0.7022;esp6500siv2_all=0.7438;esp6500siv2_ea=0.7022;1000g2015aug_all=0.698882;avsnp147=rs1150908;Kaviar_AF=0.684137;Kaviar_AC=105769;Kaviar_AN=154602;ExAC_ALL=0.6946;ExAC_AFR=0.8268;ExAC_AMR=0.7487;ExAC_EAS=0.7309;ExAC_FIN=0.7722;ExAC_NFE=0.7029;ExAC_OTH=0.6533;ExAC_SAS=0.4970;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6954;gnomAD_exome_AFR=0.8257;gnomAD_exome_AMR=0.7516;gnomAD_exome_ASJ=0.6408;gnomAD_exome_EAS=0.7292;gnomAD_exome_FIN=0.7705;gnomAD_exome_NFE=0.6999;gnomAD_exome_OTH=0.6860;gnomAD_exome_SAS=0.4987;gnomAD_genome_ALL=0.7525;gnomAD_genome_AFR=0.8236;gnomAD_genome_AMR=0.7554;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7017;gnomAD_genome_FIN=0.7811;gnomAD_genome_NFE=0.7148;gnomAD_genome_OTH=0.7082;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:553:279:8011:245:6850:-166.392,0,-282.651 +chr1 228482010 . C T 1120.78 . AB=0.355752;ABP=105.123;AC=1;AF=0.5;AN=2;AO=201;CIGAR=1X;DP=565;DPB=565;DPRA=0;EPP=12.0959;EPPR=10.1545;GTI=0;LEN=1;MEANALT=3;MQM=22.7214;MQMR=24.4955;NS=1;NUMALT=1;ODDS=258.07;PAIRED=0.915423;PAIREDR=0.906344;PAO=0;PQA=0;PQR=0;PRO=0;QA=4929;QR=9789;RO=331;RPL=153;RPP=122.117;RPPR=119.056;RPR=48;RUN=1;SAF=93;SAP=5.44105;SAR=108;SRF=125;SRP=46.0527;SRR=206;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.C11289T:p.D3763D,OBSCN:NM_052843:exon42:c.C11289T:p.D3763D,OBSCN:NM_001271223:exon47:c.C12576T:p.D4192D;cytoBand=1q42.13;esp6500siv2_all=0.4681;esp6500siv2_ea=0.4953;esp6500siv2_all=0.4681;esp6500siv2_ea=0.4953;1000g2015aug_all=0.381989;avsnp147=rs449133;Kaviar_AF=0.430609;Kaviar_AC=66573;Kaviar_AN=154602;ExAC_ALL=0.4358;ExAC_AFR=0.4244;ExAC_AMR=0.3494;ExAC_EAS=0.2061;ExAC_FIN=0.5641;ExAC_NFE=0.4961;ExAC_OTH=0.4278;ExAC_SAS=0.3281;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4344;gnomAD_exome_AFR=0.4206;gnomAD_exome_AMR=0.3665;gnomAD_exome_ASJ=0.4076;gnomAD_exome_EAS=0.2030;gnomAD_exome_FIN=0.5609;gnomAD_exome_NFE=0.497;gnomAD_exome_OTH=0.4466;gnomAD_exome_SAS=0.3315;gnomAD_genome_ALL=0.4781;gnomAD_genome_AFR=0.4307;gnomAD_genome_AMR=0.3846;gnomAD_genome_ASJ=0.4073;gnomAD_genome_EAS=0.2066;gnomAD_genome_FIN=0.5630;gnomAD_genome_NFE=0.5212;gnomAD_genome_OTH=0.4867;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:565:331:9789:201:4929:-139.848,0,-436.473 +chr1 228492044 . G A 5488.91 . AB=0.439318;ABP=34.8985;AC=1;AF=0.5;AN=2;AO=438;CIGAR=1X;DP=997;DPB=997;DPRA=0;EPP=31.646;EPPR=9.82276;GTI=0;LEN=1;MEANALT=3;MQM=31.9475;MQMR=32.1686;NS=1;NUMALT=1;ODDS=1263.87;PAIRED=0.920091;PAIREDR=0.880392;PAO=0;PQA=0;PQR=0;PRO=0;QA=11416;QR=15121;RO=510;RPL=224;RPP=3.50607;RPPR=74.9669;RPR=214;RUN=1;SAF=271;SAP=56.6328;SAR=167;SRF=287;SRP=20.4502;SRR=223;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon53:c.G14043A:p.E4681E;cytoBand=1q42.13;esp6500siv2_all=0.4536;esp6500siv2_ea=0.4905;esp6500siv2_all=0.4536;esp6500siv2_ea=0.4905;1000g2015aug_all=0.369209;avsnp147=rs1150910;Kaviar_AF=0.427582;Kaviar_AC=66105;Kaviar_AN=154602;ExAC_ALL=0.4336;ExAC_AFR=0.3862;ExAC_AMR=0.3476;ExAC_EAS=0.2052;ExAC_FIN=0.5646;ExAC_NFE=0.4986;ExAC_OTH=0.4243;ExAC_SAS=0.3280;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4307;gnomAD_exome_AFR=0.3775;gnomAD_exome_AMR=0.3626;gnomAD_exome_ASJ=0.4094;gnomAD_exome_EAS=0.2021;gnomAD_exome_FIN=0.5612;gnomAD_exome_NFE=0.4974;gnomAD_exome_OTH=0.4451;gnomAD_exome_SAS=0.3284;gnomAD_genome_ALL=0.4656;gnomAD_genome_AFR=0.3856;gnomAD_genome_AMR=0.3807;gnomAD_genome_ASJ=0.4172;gnomAD_genome_EAS=0.2051;gnomAD_genome_FIN=0.5635;gnomAD_genome_NFE=0.5219;gnomAD_genome_OTH=0.4867;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:997:510:15121:438:11416:-566.244,0,-823.586 +chr1 228494790 . G A 10187.8 . AB=0.459941;ABP=21.7997;AC=1;AF=0.5;AN=2;AO=620;CIGAR=1X;DP=1348;DPB=1348;DPRA=0;EPP=21.1666;EPPR=21.8835;GTI=0;LEN=1;MEANALT=3;MQM=35.2597;MQMR=35.5843;NS=1;NUMALT=1;ODDS=2345.84;PAIRED=0.86129;PAIREDR=0.831429;PAO=0;PQA=0;PQR=0;PRO=0;QA=17983;QR=21987;RO=700;RPL=339;RPP=14.7923;RPPR=28.1373;RPR=281;RUN=1;SAF=331;SAP=9.18849;SAR=289;SRF=374;SRP=10.1575;SRR=326;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon45:c.G12115A:p.G4039R,OBSCN:NM_052843:exon45:c.G12115A:p.G4039R,OBSCN:NM_001271223:exon56:c.G14986A:p.G4996R;cytoBand=1q42.13;esp6500siv2_all=0.3663;esp6500siv2_ea=0.4939;esp6500siv2_all=0.3663;esp6500siv2_ea=0.4939;1000g2015aug_all=0.26857;avsnp147=rs435776;Kaviar_AF=0.393889;Kaviar_AC=60896;Kaviar_AN=154602;ExAC_ALL=0.4091;ExAC_AFR=0.1020;ExAC_AMR=0.3351;ExAC_EAS=0.2060;ExAC_FIN=0.5709;ExAC_NFE=0.4976;ExAC_OTH=0.4180;ExAC_SAS=0.3271;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.558;SIFT_pred=T;Polyphen2_HDIV_score=0.811;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.187;Polyphen2_HVAR_pred=B;LRT_score=0.134;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=1.12;MutationAssessor_pred=L;FATHMM_score=3.58;FATHMM_pred=T;PROVEAN_score=-1.94;PROVEAN_pred=N;VEST3_score=0.233;CADD_raw=2.944;CADD_phred=22.0;DANN_score=0.684;fathmm-MKL_coding_score=0.101;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.983;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.635;integrated_confidence_value=0;GERP++_RS=0.336;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=-0.239;phastCons7way_vertebrate=0.003;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=7.364;hgmdPRO=.;gnomAD_exome_ALL=0.4111;gnomAD_exome_AFR=0.0995;gnomAD_exome_AMR=0.3482;gnomAD_exome_ASJ=0.4052;gnomAD_exome_EAS=0.2026;gnomAD_exome_FIN=0.5616;gnomAD_exome_NFE=0.4972;gnomAD_exome_OTH=0.4354;gnomAD_exome_SAS=0.3281;gnomAD_genome_ALL=0.3878;gnomAD_genome_AFR=0.1142;gnomAD_genome_AMR=0.3684;gnomAD_genome_ASJ=0.4139;gnomAD_genome_EAS=0.2033;gnomAD_genome_FIN=0.5633;gnomAD_genome_NFE=0.5210;gnomAD_genome_OTH=0.4744;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1348:700:21987:620:17983:-1031.59,0,-1340.16 +chr1 228503677 . A G 8621.92 . AB=0.532528;ABP=12.899;AC=1;AF=0.5;AN=2;AO=573;CIGAR=1X;DP=1076;DPB=1076;DPRA=0;EPP=94.0568;EPPR=31.0068;GTI=0;LEN=1;MEANALT=3;MQM=32.6876;MQMR=33.471;NS=1;NUMALT=1;ODDS=1476.77;PAIRED=0.886562;PAIREDR=0.879464;PAO=0;PQA=0;PQR=0;PRO=0;QA=15417;QR=12442;RO=448;RPL=281;RPP=3.46885;RPPR=25.423;RPR=292;RUN=1;SAF=332;SAP=34.3924;SAR=241;SRF=224;SRP=3.0103;SRR=224;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon50:c.A13142G:p.H4381R,OBSCN:NM_052843:exon50:c.A13142G:p.H4381R,OBSCN:NM_001271223:exon61:c.A16013G:p.H5338R;cytoBand=1q42.13;esp6500siv2_all=0.7499;esp6500siv2_ea=0.7056;esp6500siv2_all=0.7499;esp6500siv2_ea=0.7056;1000g2015aug_all=0.700879;avsnp147=rs1150912;Kaviar_AF=0.63267;Kaviar_AC=97812;Kaviar_AN=154602;ExAC_ALL=0.7014;ExAC_AFR=0.8324;ExAC_AMR=0.7588;ExAC_EAS=0.7335;ExAC_FIN=0.7888;ExAC_NFE=0.7111;ExAC_OTH=0.6720;ExAC_SAS=0.5181;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.160;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.435;MutationAssessor_pred=N;FATHMM_score=3.63;FATHMM_pred=T;PROVEAN_score=-0.1;PROVEAN_pred=N;VEST3_score=0.027;CADD_raw=-2.279;CADD_phred=0.001;DANN_score=0.651;fathmm-MKL_coding_score=0.053;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.035;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.701;integrated_confidence_value=0;GERP++_RS=-6.7;phyloP7way_vertebrate=-0.935;phyloP20way_mammalian=-1.090;phastCons7way_vertebrate=0.079;phastCons20way_mammalian=0.004;SiPhy_29way_logOdds=11.509;hgmdPRO=.;gnomAD_exome_ALL=0.6901;gnomAD_exome_AFR=0.8269;gnomAD_exome_AMR=0.7489;gnomAD_exome_ASJ=0.6373;gnomAD_exome_EAS=0.7239;gnomAD_exome_FIN=0.7677;gnomAD_exome_NFE=0.6950;gnomAD_exome_OTH=0.6792;gnomAD_exome_SAS=0.4940;gnomAD_genome_ALL=0.7537;gnomAD_genome_AFR=0.8285;gnomAD_genome_AMR=0.7542;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7038;gnomAD_genome_FIN=0.7811;gnomAD_genome_NFE=0.7144;gnomAD_genome_OTH=0.7064;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1076:448:12442:573:15417:-885.949,0,-657.607 +chr1 228504472 . T C 11287.8 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=811;CIGAR=1X;DP=1622;DPB=1622;DPRA=0;EPP=88.8009;EPPR=3.69363;GTI=0;LEN=1;MEANALT=3;MQM=31.106;MQMR=34.5105;NS=1;NUMALT=1;ODDS=2464.81;PAIRED=0.832306;PAIREDR=0.858741;PAO=0;PQA=0;PQR=0;PRO=0;QA=22031;QR=19745;RO=715;RPL=262;RPP=223.555;RPPR=113.804;RPR=549;RUN=1;SAF=384;SAP=7.96104;SAR=427;SRF=370;SRP=4.90844;SRR=345;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.T13348C:p.C4450R,OBSCN:NM_052843:exon51:c.T13348C:p.C4450R,OBSCN:NM_001271223:exon62:c.T16219C:p.C5407R;cytoBand=1q42.13;esp6500siv2_all=0.7441;esp6500siv2_ea=0.7008;esp6500siv2_all=0.7441;esp6500siv2_ea=0.7008;1000g2015aug_all=0.699281;avsnp147=rs1188732;Kaviar_AF=0.659759;Kaviar_AC=102000;Kaviar_AN=154602;ExAC_ALL=0.6949;ExAC_AFR=0.8259;ExAC_AMR=0.7505;ExAC_EAS=0.7283;ExAC_FIN=0.7761;ExAC_NFE=0.7040;ExAC_OTH=0.6470;ExAC_SAS=0.5033;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.458;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.024;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.64;MutationAssessor_pred=N;FATHMM_score=0.22;FATHMM_pred=T;PROVEAN_score=0.79;PROVEAN_pred=N;VEST3_score=0.063;CADD_raw=-1.304;CADD_phred=0.004;DANN_score=0.412;fathmm-MKL_coding_score=0.020;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.024;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-5.27;phyloP7way_vertebrate=-1.917;phyloP20way_mammalian=-0.364;phastCons7way_vertebrate=0.001;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=3.614;hgmdPRO=.;gnomAD_exome_ALL=0.6931;gnomAD_exome_AFR=0.8231;gnomAD_exome_AMR=0.7511;gnomAD_exome_ASJ=0.6378;gnomAD_exome_EAS=0.7279;gnomAD_exome_FIN=0.7703;gnomAD_exome_NFE=0.6982;gnomAD_exome_OTH=0.6821;gnomAD_exome_SAS=0.4970;gnomAD_genome_ALL=0.7527;gnomAD_genome_AFR=0.8236;gnomAD_genome_AMR=0.7554;gnomAD_genome_ASJ=0.64;gnomAD_genome_EAS=0.7063;gnomAD_genome_FIN=0.7814;gnomAD_genome_NFE=0.7147;gnomAD_genome_OTH=0.7090;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1622:715:19745:811:22031:-1170.08,0,-1091.49 +chr1 228504670 . C T 1099.25 . AB=0.423398;ABP=21.3075;AC=1;AF=0.5;AN=2;AO=152;CIGAR=1X;DP=359;DPB=359;DPRA=0;EPP=51.0684;EPPR=40.9797;GTI=0;LEN=1;MEANALT=3;MQM=27.3816;MQMR=31.659;NS=1;NUMALT=1;ODDS=253.111;PAIRED=0.848684;PAIREDR=0.895954;PAO=0;PQA=0;PQR=0;PRO=0;QA=3690;QR=5310;RO=173;RPL=134;RPP=195.243;RPPR=163.285;RPR=18;RUN=1;SAF=29;SAP=129.241;SAR=123;SRF=29;SRP=169.009;SRR=144;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon51:c.C13546T:p.R4516W,OBSCN:NM_052843:exon51:c.C13546T:p.R4516W,OBSCN:NM_001271223:exon62:c.C16417T:p.R5473W;cytoBand=1q42.13;esp6500siv2_all=0.3755;esp6500siv2_ea=0.4398;esp6500siv2_all=0.3755;esp6500siv2_ea=0.4398;1000g2015aug_all=0.330272;avsnp147=rs11810627;Kaviar_AF=0.207882;Kaviar_AC=32139;Kaviar_AN=154602;ExAC_ALL=0.4230;ExAC_AFR=0.3255;ExAC_AMR=0.3583;ExAC_EAS=0.2462;ExAC_FIN=0.6111;ExAC_NFE=0.5071;ExAC_OTH=0.4385;ExAC_SAS=0.3816;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.111;SIFT_pred=T;Polyphen2_HDIV_score=0.071;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=1.3;MutationAssessor_pred=L;FATHMM_score=0.2;FATHMM_pred=T;PROVEAN_score=-2.21;PROVEAN_pred=N;VEST3_score=0.389;CADD_raw=3.693;CADD_phred=23.3;DANN_score=0.809;fathmm-MKL_coding_score=0.587;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.946;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.646;integrated_confidence_value=0;GERP++_RS=-0.971;phyloP7way_vertebrate=-0.061;phyloP20way_mammalian=0.035;phastCons7way_vertebrate=0.020;phastCons20way_mammalian=0.001;SiPhy_29way_logOdds=10.362;hgmdPRO=.;gnomAD_exome_ALL=0.4098;gnomAD_exome_AFR=0.2869;gnomAD_exome_AMR=0.3675;gnomAD_exome_ASJ=0.4187;gnomAD_exome_EAS=0.2045;gnomAD_exome_FIN=0.5620;gnomAD_exome_NFE=0.4992;gnomAD_exome_OTH=0.4257;gnomAD_exome_SAS=0.3347;gnomAD_genome_ALL=0.4424;gnomAD_genome_AFR=0.2941;gnomAD_genome_AMR=0.3768;gnomAD_genome_ASJ=0.4172;gnomAD_genome_EAS=0.2075;gnomAD_genome_FIN=0.5672;gnomAD_genome_NFE=0.5236;gnomAD_genome_OTH=0.4876;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:359:173:5310:152:3690:-157.073,0,-288.941 +chr1 228504701 . GC GCTCCC 241.936 . AB=0.382353;ABP=23.4477;AC=1;AF=0.5;AN=2;AO=65;CIGAR=1M4I1M;DP=170;DPB=317.5;DPRA=0;EPP=39.3908;EPPR=31.5356;GTI=0;LEN=4;MEANALT=9;MQM=23.9846;MQMR=31.7955;NS=1;NUMALT=1;ODDS=55.7078;PAIRED=0.953846;PAIREDR=0.954545;PAO=3;PQA=96;PQR=0;PRO=0;QA=1603;QR=2803;RO=88;RPL=51;RPP=48.7448;RPPR=74.965;RPR=14;RUN=1;SAF=2;SAP=127.319;SAR=63;SRF=10;SRP=117.111;SRR=78;TYPE=ins;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 0/1:170:88:2803:65:1603:-54.9193,0,-159.509 +chr1 228505668 . C G 10403 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=707;CIGAR=1X;DP=1414;DPB=1414;DPRA=0;EPP=11.6378;EPPR=6.62733;GTI=0;LEN=1;MEANALT=3;MQM=31.5587;MQMR=34.4006;NS=1;NUMALT=1;ODDS=2395.39;PAIRED=0.923621;PAIREDR=0.933718;PAO=0;PQA=0;PQR=0;PRO=0;QA=19429;QR=20031;RO=694;RPL=340;RPP=5.24934;RPPR=4.26187;RPR=367;RUN=1;SAF=433;SAP=80.6581;SAR=274;SRF=421;SRP=71.5462;SRR=273;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.C13925G:p.S4642C,OBSCN:NM_052843:exon53:c.C13925G:p.S4642C,OBSCN:NM_001271223:exon64:c.C16796G:p.S5599C;cytoBand=1q42.13;esp6500siv2_all=0.7453;esp6500siv2_ea=0.7016;esp6500siv2_all=0.7453;esp6500siv2_ea=0.7016;1000g2015aug_all=0.699281;avsnp147=rs1188729;Kaviar_AF=0.684881;Kaviar_AC=105884;Kaviar_AN=154602;ExAC_ALL=0.6940;ExAC_AFR=0.8253;ExAC_AMR=0.7480;ExAC_EAS=0.7293;ExAC_FIN=0.7731;ExAC_NFE=0.7027;ExAC_OTH=0.6478;ExAC_SAS=0.4959;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.089;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.205;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.165;MutationAssessor_pred=N;FATHMM_score=-1.09;FATHMM_pred=T;PROVEAN_score=2.16;PROVEAN_pred=N;VEST3_score=0.11;CADD_raw=0.755;CADD_phred=9.181;DANN_score=0.322;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.986;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=2.58;phyloP7way_vertebrate=0.009;phyloP20way_mammalian=0.037;phastCons7way_vertebrate=0.140;phastCons20way_mammalian=0.115;SiPhy_29way_logOdds=7.934;hgmdPRO=.;gnomAD_exome_ALL=0.6949;gnomAD_exome_AFR=0.8246;gnomAD_exome_AMR=0.7513;gnomAD_exome_ASJ=0.6385;gnomAD_exome_EAS=0.7291;gnomAD_exome_FIN=0.7709;gnomAD_exome_NFE=0.6997;gnomAD_exome_OTH=0.6847;gnomAD_exome_SAS=0.4972;gnomAD_genome_ALL=0.7523;gnomAD_genome_AFR=0.8230;gnomAD_genome_AMR=0.7554;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7042;gnomAD_genome_FIN=0.7813;gnomAD_genome_NFE=0.7146;gnomAD_genome_OTH=0.7055;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1414:694:20031:707:19429:-1057.48,0,-1144.1 +chr1 228505699 . T C 11351.6 . AB=0.48483;ABP=6.3044;AC=1;AF=0.5;AN=2;AO=799;CIGAR=1X;DP=1648;DPB=1648;DPRA=0;EPP=168.817;EPPR=53.5583;GTI=0;LEN=1;MEANALT=3;MQM=31.3667;MQMR=34.803;NS=1;NUMALT=1;ODDS=2477.26;PAIRED=0.927409;PAIREDR=0.921488;PAO=0;PQA=0;PQR=0;PRO=0;QA=21217;QR=19482;RO=726;RPL=413;RPP=4.99153;RPPR=3.11798;RPR=386;RUN=1;SAF=381;SAP=6.73088;SAR=418;SRF=342;SRP=8.28644;SRR=384;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon53:c.T13956C:p.G4652G,OBSCN:NM_052843:exon53:c.T13956C:p.G4652G,OBSCN:NM_001271223:exon64:c.T16827C:p.G5609G;cytoBand=1q42.13;esp6500siv2_all=0.7531;esp6500siv2_ea=0.7008;esp6500siv2_all=0.7531;esp6500siv2_ea=0.7008;1000g2015aug_all=0.705871;avsnp147=rs1188728;Kaviar_AF=0.004172;Kaviar_AC=645;Kaviar_AN=154602;ExAC_ALL=0.6974;ExAC_AFR=0.8496;ExAC_AMR=0.7495;ExAC_EAS=0.7299;ExAC_FIN=0.7775;ExAC_NFE=0.7045;ExAC_OTH=0.65;ExAC_SAS=0.4961;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6972;gnomAD_exome_AFR=0.8480;gnomAD_exome_AMR=0.7525;gnomAD_exome_ASJ=0.6392;gnomAD_exome_EAS=0.7294;gnomAD_exome_FIN=0.7722;gnomAD_exome_NFE=0.7007;gnomAD_exome_OTH=0.6869;gnomAD_exome_SAS=0.4973;gnomAD_genome_ALL=0.7600;gnomAD_genome_AFR=0.85;gnomAD_genome_AMR=0.7566;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.7046;gnomAD_genome_FIN=0.7813;gnomAD_genome_NFE=0.7147;gnomAD_genome_OTH=0.7076;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1648:726:19482:799:21217:-1161.66,0,-1090.51 +chr1 228509427 . A G 12200 . AB=0.464798;ABP=18.7568;AC=1;AF=0.5;AN=2;AO=680;CIGAR=1X;DP=1463;DPB=1463;DPRA=0;EPP=20.497;EPPR=139.949;GTI=0;LEN=1;MEANALT=3;MQM=35.1515;MQMR=35.884;NS=1;NUMALT=1;ODDS=2713.52;PAIRED=0.904412;PAIREDR=0.884038;PAO=0;PQA=0;PQR=0;PRO=0;QA=21092;QR=20610;RO=733;RPL=279;RPP=50.54;RPPR=61.9067;RPR=401;RUN=1;SAF=418;SAP=80.7235;SAR=262;SRF=428;SRP=47.8291;SRR=305;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon55:c.A14885G:p.D4962G,OBSCN:NM_052843:exon55:c.A14885G:p.D4962G,OBSCN:NM_001271223:exon66:c.A17756G:p.D5919G;cytoBand=1q42.13;esp6500siv2_all=0.7397;esp6500siv2_ea=0.6968;esp6500siv2_all=0.7397;esp6500siv2_ea=0.6968;1000g2015aug_all=0.684704;avsnp147=rs373610;Kaviar_AF=0.678102;Kaviar_AC=104836;Kaviar_AN=154602;ExAC_ALL=0.6862;ExAC_AFR=0.8257;ExAC_AMR=0.7027;ExAC_EAS=0.6881;ExAC_FIN=0.7721;ExAC_NFE=0.7021;ExAC_OTH=0.6448;ExAC_SAS=0.4946;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.125;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.08;MutationAssessor_pred=N;FATHMM_score=-0.27;FATHMM_pred=T;PROVEAN_score=0.49;PROVEAN_pred=N;VEST3_score=0.073;CADD_raw=-0.311;CADD_phred=0.626;DANN_score=0.720;fathmm-MKL_coding_score=0.273;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.006;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.719;integrated_confidence_value=0;GERP++_RS=1.91;phyloP7way_vertebrate=-2.136;phyloP20way_mammalian=-1.014;phastCons7way_vertebrate=0.036;phastCons20way_mammalian=0.036;SiPhy_29way_logOdds=4.77;hgmdPRO=.;gnomAD_exome_ALL=0.6860;gnomAD_exome_AFR=0.8249;gnomAD_exome_AMR=0.7096;gnomAD_exome_ASJ=0.6381;gnomAD_exome_EAS=0.6892;gnomAD_exome_FIN=0.7701;gnomAD_exome_NFE=0.6995;gnomAD_exome_OTH=0.6774;gnomAD_exome_SAS=0.4964;gnomAD_genome_ALL=0.7495;gnomAD_genome_AFR=0.8238;gnomAD_genome_AMR=0.7124;gnomAD_genome_ASJ=0.6424;gnomAD_genome_EAS=0.6693;gnomAD_genome_FIN=0.7814;gnomAD_genome_NFE=0.7147;gnomAD_genome_OTH=0.7026;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1463:733:20610:680:21092:-1243,0,-1211.46 +chr1 228520880 . C T 8084.34 . AB=0.461712;ABP=19.9713;AC=1;AF=0.5;AN=2;AO=615;CIGAR=1X;DP=1332;DPB=1332;DPRA=0;EPP=65.4675;EPPR=70.9962;GTI=0;LEN=1;MEANALT=3;MQM=30.9659;MQMR=30.9276;NS=1;NUMALT=1;ODDS=1861.49;PAIRED=0.884553;PAIREDR=0.859843;PAO=0;PQA=0;PQR=0;PRO=0;QA=16789;QR=19662;RO=635;RPL=165;RPP=289.804;RPPR=218.451;RPR=450;RUN=1;SAF=367;SAP=53.0107;SAR=248;SRF=390;SRP=74.9083;SRR=245;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.3997;esp6500siv2_ea=0.4158;esp6500siv2_all=0.3997;esp6500siv2_ea=0.4158;1000g2015aug_all=0.341853;avsnp147=rs416564;Kaviar_AF=0.320293;Kaviar_AC=49518;Kaviar_AN=154602;ExAC_ALL=0.3974;ExAC_AFR=0.4161;ExAC_AMR=0.3715;ExAC_EAS=0.2331;ExAC_FIN=0.5008;ExAC_NFE=0.4551;ExAC_OTH=0.3556;ExAC_SAS=0.2554;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3587;gnomAD_exome_AFR=0.3788;gnomAD_exome_AMR=0.3309;gnomAD_exome_ASJ=0.3502;gnomAD_exome_EAS=0.1935;gnomAD_exome_FIN=0.4522;gnomAD_exome_NFE=0.4122;gnomAD_exome_OTH=0.3721;gnomAD_exome_SAS=0.2324;gnomAD_genome_ALL=0.4194;gnomAD_genome_AFR=0.4012;gnomAD_genome_AMR=0.3553;gnomAD_genome_ASJ=0.35;gnomAD_genome_EAS=0.2056;gnomAD_genome_FIN=0.4639;gnomAD_genome_NFE=0.4488;gnomAD_genome_OTH=0.4045;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1332:635:19662:615:16789:-857.69,0,-1035.94 +chr1 228520973 . C G 13952.8 . AB=0.499733;ABP=3.01146;AC=1;AF=0.5;AN=2;AO=935;CIGAR=1X;DP=1871;DPB=1871;DPRA=0;EPP=23.9702;EPPR=22.0161;GTI=0;LEN=1;MEANALT=3;MQM=31.7658;MQMR=32.8873;NS=1;NUMALT=1;ODDS=3212.75;PAIRED=0.865241;PAIREDR=0.858564;PAO=0;PQA=0;PQR=0;PRO=0;QA=26224;QR=27287;RO=905;RPL=484;RPP=5.53943;RPPR=3.07029;RPR=451;RUN=1;SAF=510;SAP=19.7899;SAR=425;SRF=483;SRP=11.9385;SRR=422;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon58:c.C15805G:p.L5269V,OBSCN:NM_052843:exon58:c.C15805G:p.L5269V,OBSCN:NM_001271223:exon69:c.C18676G:p.L6226V;cytoBand=1q42.13;esp6500siv2_all=0.3947;esp6500siv2_ea=0.4179;esp6500siv2_all=0.3947;esp6500siv2_ea=0.4179;1000g2015aug_all=0.335064;avsnp147=rs369909;Kaviar_AF=0.282719;Kaviar_AC=43709;Kaviar_AN=154602;ExAC_ALL=0.3938;ExAC_AFR=0.4039;ExAC_AMR=0.3805;ExAC_EAS=0.2645;ExAC_FIN=0.5105;ExAC_NFE=0.4651;ExAC_OTH=0.3388;ExAC_SAS=0.2627;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.49;SIFT_pred=T;Polyphen2_HDIV_score=0.046;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.038;Polyphen2_HVAR_pred=B;LRT_score=0.007;LRT_pred=N;MutationTaster_score=0.984;MutationTaster_pred=P;MutationAssessor_score=0.385;MutationAssessor_pred=N;FATHMM_score=-0.04;FATHMM_pred=T;PROVEAN_score=-0.52;PROVEAN_pred=N;VEST3_score=0.137;CADD_raw=1.995;CADD_phred=16.18;DANN_score=0.992;fathmm-MKL_coding_score=0.727;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.973;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=2.01;phyloP7way_vertebrate=-0.058;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=7.164;hgmdPRO=.;gnomAD_exome_ALL=0.3597;gnomAD_exome_AFR=0.3557;gnomAD_exome_AMR=0.3367;gnomAD_exome_ASJ=0.3527;gnomAD_exome_EAS=0.1960;gnomAD_exome_FIN=0.4587;gnomAD_exome_NFE=0.4187;gnomAD_exome_OTH=0.3667;gnomAD_exome_SAS=0.2380;gnomAD_genome_ALL=0.4114;gnomAD_genome_AFR=0.3734;gnomAD_genome_AMR=0.3544;gnomAD_genome_ASJ=0.35;gnomAD_genome_EAS=0.2056;gnomAD_genome_FIN=0.4644;gnomAD_genome_NFE=0.4485;gnomAD_genome_OTH=0.4033;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1871:905:27287:935:26224:-1407.9,0,-1478.14 +chr1 228523618 . G A 2810.79 . AB=0.516209;ABP=3.92546;AC=1;AF=0.5;AN=2;AO=207;CIGAR=1X;DP=401;DPB=401;DPRA=0;EPP=97.6844;EPPR=77.8841;GTI=0;LEN=1;MEANALT=3;MQM=32.3575;MQMR=33.7624;NS=1;NUMALT=1;ODDS=619.735;PAIRED=0.980676;PAIREDR=0.955801;PAO=0;PQA=0;PQR=0;PRO=0;QA=6126;QR=5784;RO=181;RPL=165;RPP=161.717;RPPR=228.184;RPR=42;RUN=1;SAF=46;SAP=141.743;SAR=161;SRF=59;SRP=50.6267;SRR=122;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.5028;esp6500siv2_ea=0.5195;esp6500siv2_all=0.5028;esp6500siv2_ea=0.5195;1000g2015aug_all=0.474241;avsnp147=rs1757160;Kaviar_AF=0.0982976;Kaviar_AC=15197;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.5195;gnomAD_genome_AFR=0.4515;gnomAD_genome_AMR=0.3981;gnomAD_genome_ASJ=0.4367;gnomAD_genome_EAS=0.5292;gnomAD_genome_FIN=0.6168;gnomAD_genome_NFE=0.5431;gnomAD_genome_OTH=0.5307;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:401:181:5784:207:6126:-329.888,0,-314.353 +chr1 228524961 . C A 9641.95 . AB=0.459941;ABP=21.7997;AC=1;AF=0.5;AN=2;AO=620;CIGAR=1X;DP=1348;DPB=1348;DPRA=0;EPP=5.02767;EPPR=47.301;GTI=0;LEN=1;MEANALT=3;MQM=32.9839;MQMR=35.3839;NS=1;NUMALT=1;ODDS=2220.14;PAIRED=0.943548;PAIREDR=0.916431;PAO=0;PQA=0;PQR=0;PRO=0;QA=18049;QR=20546;RO=706;RPL=197;RPP=181.898;RPPR=261.68;RPR=423;RUN=1;SAF=351;SAP=26.5603;SAR=269;SRF=387;SRP=17.2325;SRR=319;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon66:c.C16677A:p.P5559P,OBSCN:NM_052843:exon66:c.C16677A:p.P5559P,OBSCN:NM_001271223:exon77:c.C19548A:p.P6516P;cytoBand=1q42.13;esp6500siv2_all=0.3155;esp6500siv2_ea=0.4226;esp6500siv2_all=0.3155;esp6500siv2_ea=0.4226;1000g2015aug_all=0.239816;avsnp147=rs3795808;Kaviar_AF=0.346296;Kaviar_AC=53538;Kaviar_AN=154602;ExAC_ALL=0.3570;ExAC_AFR=0.0981;ExAC_AMR=0.3123;ExAC_EAS=0.2149;ExAC_FIN=0.4710;ExAC_NFE=0.4306;ExAC_OTH=0.3486;ExAC_SAS=0.2670;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3534;gnomAD_exome_AFR=0.0903;gnomAD_exome_AMR=0.3173;gnomAD_exome_ASJ=0.3429;gnomAD_exome_EAS=0.2037;gnomAD_exome_FIN=0.4626;gnomAD_exome_NFE=0.4274;gnomAD_exome_OTH=0.3712;gnomAD_exome_SAS=0.2623;gnomAD_genome_ALL=0.3343;gnomAD_genome_AFR=0.1040;gnomAD_genome_AMR=0.3381;gnomAD_genome_ASJ=0.3377;gnomAD_genome_EAS=0.2038;gnomAD_genome_FIN=0.4653;gnomAD_genome_NFE=0.4482;gnomAD_genome_OTH=0.3898;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1348:706:20546:620:18049:-994.385,0,-1255.08 +chr1 228525627 . C A 4193.88 . AB=0.395288;ABP=112.152;AC=1;AF=0.5;AN=2;AO=453;CIGAR=1X;DP=1146;DPB=1146;DPRA=0;EPP=48.1127;EPPR=95.5898;GTI=0;LEN=1;MEANALT=3;MQM=34.4658;MQMR=33.1994;NS=1;NUMALT=1;ODDS=965.677;PAIRED=0.949227;PAIREDR=0.957704;PAO=0;PQA=0;PQR=0;PRO=0;QA=9689;QR=18203;RO=662;RPL=157;RPP=95.6262;RPPR=106.939;RPR=296;RUN=1;SAF=261;SAP=25.8323;SAR=192;SRF=405;SRP=74.8591;SRR=257;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.3153;esp6500siv2_ea=0.4221;esp6500siv2_all=0.3153;esp6500siv2_ea=0.4221;1000g2015aug_all=0.240216;avsnp147=rs1757127;Kaviar_AF=0.337945;Kaviar_AC=52247;Kaviar_AN=154602;ExAC_ALL=0.3887;ExAC_AFR=0.1188;ExAC_AMR=0.3531;ExAC_EAS=0.2612;ExAC_FIN=0.4964;ExAC_NFE=0.4565;ExAC_OTH=0.3757;ExAC_SAS=0.2885;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3489;gnomAD_exome_AFR=0.0872;gnomAD_exome_AMR=0.3144;gnomAD_exome_ASJ=0.3397;gnomAD_exome_EAS=0.2014;gnomAD_exome_FIN=0.4597;gnomAD_exome_NFE=0.4218;gnomAD_exome_OTH=0.3695;gnomAD_exome_SAS=0.2596;gnomAD_genome_ALL=0.3329;gnomAD_genome_AFR=0.1034;gnomAD_genome_AMR=0.3397;gnomAD_genome_ASJ=0.3377;gnomAD_genome_EAS=0.2033;gnomAD_genome_FIN=0.4639;gnomAD_genome_NFE=0.4463;gnomAD_genome_OTH=0.3873;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1146:662:18203:453:9689:-452.051,0,-1063.67 +chr1 228526665 . T C 12273.1 . AB=0.476402;ABP=11.7215;AC=1;AF=0.5;AN=2;AO=858;CIGAR=1X;DP=1801;DPB=1801;DPRA=0;EPP=148.787;EPPR=96.1102;GTI=0;LEN=1;MEANALT=3;MQM=30.6457;MQMR=33.3634;NS=1;NUMALT=1;ODDS=2759.8;PAIRED=0.829837;PAIREDR=0.877672;PAO=0;PQA=0;PQR=0;PRO=0;QA=23931;QR=22449;RO=842;RPL=489;RPP=39.4546;RPPR=77.5418;RPR=369;RUN=1;SAF=348;SAP=69.43;SAR=510;SRF=342;SRP=67.3911;SRR=500;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon69:c.T17196C:p.A5732A,OBSCN:NM_052843:exon69:c.T17196C:p.A5732A,OBSCN:NM_001271223:exon80:c.T20067C:p.A6689A;cytoBand=1q42.13;esp6500siv2_all=0.5554;esp6500siv2_ea=0.5569;esp6500siv2_all=0.5554;esp6500siv2_ea=0.5569;1000g2015aug_all=0.494409;avsnp147=rs505629;Kaviar_AF=0.214577;Kaviar_AC=33174;Kaviar_AN=154602;ExAC_ALL=0.4897;ExAC_AFR=0.5232;ExAC_AMR=0.4073;ExAC_EAS=0.6021;ExAC_FIN=0.7303;ExAC_NFE=0.5318;ExAC_OTH=0.4111;ExAC_SAS=0.4261;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4856;gnomAD_exome_AFR=0.5031;gnomAD_exome_AMR=0.3851;gnomAD_exome_ASJ=0.4227;gnomAD_exome_EAS=0.5470;gnomAD_exome_FIN=0.6421;gnomAD_exome_NFE=0.5179;gnomAD_exome_OTH=0.4652;gnomAD_exome_SAS=0.3991;gnomAD_genome_ALL=0.5405;gnomAD_genome_AFR=0.5105;gnomAD_genome_AMR=0.4057;gnomAD_genome_ASJ=0.4437;gnomAD_genome_EAS=0.5286;gnomAD_genome_FIN=0.6411;gnomAD_genome_NFE=0.5447;gnomAD_genome_OTH=0.5503;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1801:842:22449:858:23931:-1260.84,0,-1230.34 +chr1 228528412 . G A 418.511 . AB=0.374449;ABP=34.0901;AC=1;AF=0.5;AN=2;AO=85;CIGAR=1X;DP=227;DPB=227;DPRA=0;EPP=4.26209;EPPR=9.18275;GTI=0;LEN=1;MEANALT=3;MQM=27.4941;MQMR=32.4488;NS=1;NUMALT=1;ODDS=96.3658;PAIRED=0.952941;PAIREDR=0.952756;PAO=0;PQA=0;PQR=0;PRO=0;QA=2109;QR=3778;RO=127;RPL=0;RPP=187.585;RPPR=278.787;RPR=85;RUN=1;SAF=39;SAP=4.26209;SAR=46;SRF=54;SRP=9.18275;SRR=73;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.4097;esp6500siv2_ea=0.4247;esp6500siv2_all=0.4097;esp6500siv2_ea=0.4247;1000g2015aug_all=0.351837;avsnp147=rs1150916;Kaviar_AF=0.371625;Kaviar_AC=57454;Kaviar_AN=154602;ExAC_ALL=0.3916;ExAC_AFR=0.4236;ExAC_AMR=0.3311;ExAC_EAS=0.2294;ExAC_FIN=0.4811;ExAC_NFE=0.4383;ExAC_OTH=0.3570;ExAC_SAS=0.2760;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3777;gnomAD_exome_AFR=0.4002;gnomAD_exome_AMR=0.3341;gnomAD_exome_ASJ=0.3539;gnomAD_exome_EAS=0.2140;gnomAD_exome_FIN=0.463;gnomAD_exome_NFE=0.4300;gnomAD_exome_OTH=0.3832;gnomAD_exome_SAS=0.2638;gnomAD_genome_ALL=0.4214;gnomAD_genome_AFR=0.4076;gnomAD_genome_AMR=0.3520;gnomAD_genome_ASJ=0.3510;gnomAD_genome_EAS=0.2120;gnomAD_genome_FIN=0.4634;gnomAD_genome_NFE=0.4487;gnomAD_genome_OTH=0.4041;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:227:127:3778:85:2109:-74.8864,0,-219.789 +chr1 228528563 . C G 7286.92 . AB=0.483348;ABP=5.8308;AC=1;AF=0.5;AN=2;AO=566;CIGAR=1X;DP=1171;DPB=1171;DPRA=0;EPP=22.8988;EPPR=30.0477;GTI=0;LEN=1;MEANALT=3;MQM=28.0212;MQMR=31.9259;NS=1;NUMALT=1;ODDS=1677.87;PAIRED=0.816254;PAIREDR=0.843434;PAO=0;PQA=0;PQR=0;PRO=0;QA=15971;QR=18465;RO=594;RPL=339;RPP=51.1357;RPPR=44.0855;RPR=227;RUN=1;SAF=294;SAP=4.86718;SAR=272;SRF=300;SRP=3.1419;SRR=294;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon72:c.C17671G:p.Q5891E,OBSCN:NM_052843:exon72:c.C17671G:p.Q5891E,OBSCN:NM_001271223:exon83:c.C20542G:p.Q6848E;cytoBand=1q42.13;esp6500siv2_all=0.5488;esp6500siv2_ea=0.5203;esp6500siv2_all=0.5488;esp6500siv2_ea=0.5203;1000g2015aug_all=0.538738;avsnp147=rs1188710;Kaviar_AF=0.464489;Kaviar_AC=71811;Kaviar_AN=154602;ExAC_ALL=0.5468;ExAC_AFR=0.6367;ExAC_AMR=0.48;ExAC_EAS=0.6102;ExAC_FIN=0.6691;ExAC_NFE=0.5577;ExAC_OTH=0.5109;ExAC_SAS=0.4379;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.735;MutationAssessor_pred=N;FATHMM_score=2.86;FATHMM_pred=T;PROVEAN_score=1.76;PROVEAN_pred=N;VEST3_score=0.227;CADD_raw=0.194;CADD_phred=4.616;DANN_score=0.904;fathmm-MKL_coding_score=0.259;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.947;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=4.12;phyloP7way_vertebrate=0.028;phyloP20way_mammalian=-0.274;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.593;SiPhy_29way_logOdds=14.134;hgmdPRO=.;gnomAD_exome_ALL=0.5075;gnomAD_exome_AFR=0.5969;gnomAD_exome_AMR=0.4328;gnomAD_exome_ASJ=0.4296;gnomAD_exome_EAS=0.5750;gnomAD_exome_FIN=0.6419;gnomAD_exome_NFE=0.5185;gnomAD_exome_OTH=0.4906;gnomAD_exome_SAS=0.4122;gnomAD_genome_ALL=0.5708;gnomAD_genome_AFR=0.6004;gnomAD_genome_AMR=0.4532;gnomAD_genome_ASJ=0.4636;gnomAD_genome_EAS=0.5676;gnomAD_genome_FIN=0.6428;gnomAD_genome_NFE=0.5473;gnomAD_genome_OTH=0.5491;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1171:594:18465:566:15971:-743.905,0,-999.261 +chr1 228547901 . C T 1611.55 . AB=0.456647;ABP=8.65864;AC=1;AF=0.5;AN=2;AO=158;CIGAR=1X;DP=346;DPB=346;DPRA=0;EPP=13.7852;EPPR=6.59633;GTI=0;LEN=1;MEANALT=3;MQM=27.6519;MQMR=30.3486;NS=1;NUMALT=1;ODDS=371.074;PAIRED=0.981013;PAIREDR=0.994286;PAO=0;PQA=0;PQR=0;PRO=0;QA=3891;QR=5364;RO=175;RPL=89;RPP=8.5077;RPPR=4.51172;RPR=69;RUN=1;SAF=102;SAP=32.0915;SAR=56;SRF=87;SRP=3.02271;SRR=88;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_052843:exon81:c.C19308T:p.D6436D;cytoBand=1q42.13;esp6500siv2_all=0.2535;esp6500siv2_ea=0.3011;esp6500siv2_all=0.2535;esp6500siv2_ea=0.3011;1000g2015aug_all=0.298722;avsnp147=rs12035900;Kaviar_AF=0.303088;Kaviar_AC=46858;Kaviar_AN=154602;ExAC_ALL=0.3126;ExAC_AFR=0.1635;ExAC_AMR=0.3209;ExAC_EAS=0.2866;ExAC_FIN=0.2343;ExAC_NFE=0.2981;ExAC_OTH=0.3509;ExAC_SAS=0.4932;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3116;gnomAD_exome_AFR=0.1610;gnomAD_exome_AMR=0.3073;gnomAD_exome_ASJ=0.3537;gnomAD_exome_EAS=0.2860;gnomAD_exome_FIN=0.2291;gnomAD_exome_NFE=0.2996;gnomAD_exome_OTH=0.3208;gnomAD_exome_SAS=0.4928;gnomAD_genome_ALL=0.2446;gnomAD_genome_AFR=0.1590;gnomAD_genome_AMR=0.2864;gnomAD_genome_ASJ=0.3477;gnomAD_genome_EAS=0.3151;gnomAD_genome_FIN=0.2196;gnomAD_genome_NFE=0.2846;gnomAD_genome_OTH=0.3002;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:346:175:5364:158:3891:-172.853,0,-279.315 +chr1 228556788 . C T 11415.9 . AB=0.469096;ABP=15.7608;AC=1;AF=0.5;AN=2;AO=721;CIGAR=1X;DP=1537;DPB=1537;DPRA=0;EPP=41.4673;EPPR=34.1423;GTI=0;LEN=1;MEANALT=3;MQM=32.7656;MQMR=34.9324;NS=1;NUMALT=1;ODDS=2628.6;PAIRED=0.850208;PAIREDR=0.875163;PAO=0;PQA=0;PQR=0;PRO=0;QA=21302;QR=23974;RO=769;RPL=373;RPP=4.89264;RPPR=4.25558;RPR=348;RUN=1;SAF=370;SAP=4.09754;SAR=351;SRF=364;SRP=7.75704;SRR=405;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q42.13;esp6500siv2_all=0.3121;esp6500siv2_ea=0.3585;esp6500siv2_all=0.3121;esp6500siv2_ea=0.3585;1000g2015aug_all=0.320487;avsnp147=rs3738685;Kaviar_AF=0.326147;Kaviar_AC=50423;Kaviar_AN=154602;ExAC_ALL=0.3818;ExAC_AFR=0.2469;ExAC_AMR=0.3053;ExAC_EAS=0.3030;ExAC_FIN=0.3070;ExAC_NFE=0.3910;ExAC_OTH=0.4111;ExAC_SAS=0.5104;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3506;gnomAD_exome_AFR=0.2308;gnomAD_exome_AMR=0.2704;gnomAD_exome_ASJ=0.3827;gnomAD_exome_EAS=0.2724;gnomAD_exome_FIN=0.2836;gnomAD_exome_NFE=0.3722;gnomAD_exome_OTH=0.3601;gnomAD_exome_SAS=0.4958;gnomAD_genome_ALL=0.3095;gnomAD_genome_AFR=0.2317;gnomAD_genome_AMR=0.2727;gnomAD_genome_ASJ=0.3742;gnomAD_genome_EAS=0.2949;gnomAD_genome_FIN=0.2786;gnomAD_genome_NFE=0.3616;gnomAD_genome_OTH=0.3532;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1537:769:23974:721:21302:-1154.34,0,-1428.67 +chr1 228559994 . C T 3352.68 . AB=0.441791;ABP=22.7286;AC=1;AF=0.5;AN=2;AO=296;CIGAR=1X;DP=670;DPB=670;DPRA=0;EPP=9.61275;EPPR=39.5143;GTI=0;LEN=1;MEANALT=3;MQM=28.8108;MQMR=31.3912;NS=1;NUMALT=1;ODDS=771.983;PAIRED=0.888514;PAIREDR=0.908517;PAO=0;PQA=0;PQR=0;PRO=0;QA=7402;QR=9634;RO=317;RPL=116;RPP=33.0588;RPPR=12.388;RPR=180;RUN=1;SAF=177;SAP=27.6888;SAR=119;SRF=148;SRP=6.03118;SRR=169;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C21515T:p.A7172V,OBSCN:NM_001271223:exon105:c.C24386T:p.A8129V;cytoBand=1q42.13;esp6500siv2_all=0.5550;esp6500siv2_ea=0.5033;esp6500siv2_all=0.5550;esp6500siv2_ea=0.5033;1000g2015aug_all=0.589058;avsnp147=rs500049;Kaviar_AF=0.457226;Kaviar_AC=70688;Kaviar_AN=154602;ExAC_ALL=0.6192;ExAC_AFR=0.7076;ExAC_AMR=0.5245;ExAC_EAS=0.6578;ExAC_FIN=0.6214;ExAC_NFE=0.5975;ExAC_OTH=0.5802;ExAC_SAS=0.6561;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.281;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0.805;MutationAssessor_pred=L;FATHMM_score=0.0;FATHMM_pred=T;PROVEAN_score=-1.72;PROVEAN_pred=N;VEST3_score=0.216;CADD_raw=2.792;CADD_phred=21.3;DANN_score=0.952;fathmm-MKL_coding_score=0.269;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.948;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=3.71;phyloP7way_vertebrate=-0.011;phyloP20way_mammalian=0.069;phastCons7way_vertebrate=0.021;phastCons20way_mammalian=0.317;SiPhy_29way_logOdds=11.612;hgmdPRO=.;gnomAD_exome_ALL=0.5171;gnomAD_exome_AFR=0.6595;gnomAD_exome_AMR=0.3581;gnomAD_exome_ASJ=0.5071;gnomAD_exome_EAS=0.5798;gnomAD_exome_FIN=0.4912;gnomAD_exome_NFE=0.5120;gnomAD_exome_OTH=0.5032;gnomAD_exome_SAS=0.6395;gnomAD_genome_ALL=0.5371;gnomAD_genome_AFR=0.6375;gnomAD_genome_AMR=0.3556;gnomAD_genome_ASJ=0.5099;gnomAD_genome_EAS=0.5743;gnomAD_genome_FIN=0.4837;gnomAD_genome_NFE=0.4981;gnomAD_genome_OTH=0.5326;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.428309::0.163612;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:670:317:9634:296:7402:-349.071,0,-523.067 +chr1 228560139 . A G 16379.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=893;CIGAR=1X;DP=923;DPB=923;DPRA=0;EPP=67.6171;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=26.9216;MQMR=29;NS=1;NUMALT=1;ODDS=1193.34;PAIRED=0.87682;PAIREDR=0.333333;PAO=0;PQA=0;PQR=0;PRO=0;QA=24818;QR=159;RO=6;RPL=319;RPP=161.129;RPPR=4.45795;RPR=574;RUN=1;SAF=446;SAP=3.01273;SAR=447;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.A21660G:p.S7220S,OBSCN:NM_001271223:exon105:c.A24531G:p.S8177S;cytoBand=1q42.13;esp6500siv2_all=0.9449;esp6500siv2_ea=0.9259;esp6500siv2_all=0.9449;esp6500siv2_ea=0.9259;1000g2015aug_all=0.974241;avsnp147=rs498382;Kaviar_AF=0.816445;Kaviar_AC=126224;Kaviar_AN=154602;ExAC_ALL=0.9502;ExAC_AFR=0.9863;ExAC_AMR=0.9606;ExAC_EAS=1;ExAC_FIN=0.8924;ExAC_NFE=0.9239;ExAC_OTH=0.9512;ExAC_SAS=0.9881;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9435;gnomAD_exome_AFR=0.9862;gnomAD_exome_AMR=0.9593;gnomAD_exome_ASJ=0.9300;gnomAD_exome_EAS=0.9998;gnomAD_exome_FIN=0.8939;gnomAD_exome_NFE=0.9205;gnomAD_exome_OTH=0.9375;gnomAD_exome_SAS=0.9890;gnomAD_genome_ALL=0.9416;gnomAD_genome_AFR=0.9855;gnomAD_genome_AMR=0.9618;gnomAD_genome_ASJ=0.9233;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.8966;gnomAD_genome_NFE=0.9202;gnomAD_genome_OTH=0.9293;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:923:6:159:893:24818:-1663.54,-258.853,0 +chr1 228560700 . T C 9045.93 . AB=0.455432;ABP=27.7857;AC=1;AF=0.5;AN=2;AO=654;CIGAR=1X;DP=1436;DPB=1436;DPRA=0;EPP=9.43839;EPPR=7.28763;GTI=0;LEN=1;MEANALT=3;MQM=30.9144;MQMR=33.0432;NS=1;NUMALT=1;ODDS=2082.9;PAIRED=0.915902;PAIREDR=0.869065;PAO=0;PQA=0;PQR=0;PRO=0;QA=18034;QR=17763;RO=695;RPL=393;RPP=60.8631;RPPR=126.74;RPR=261;RUN=1;SAF=256;SAP=69.9607;SAR=398;SRF=300;SRP=31.2082;SRR=395;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.T22221C:p.D7407D,OBSCN:NM_001271223:exon105:c.T25092C:p.D8364D;cytoBand=1q42.13;esp6500siv2_all=0.6535;esp6500siv2_ea=0.5485;esp6500siv2_all=0.6535;esp6500siv2_ea=0.5485;1000g2015aug_all=0.757987;avsnp147=rs512253;Kaviar_AF=0.559029;Kaviar_AC=86427;Kaviar_AN=154602;ExAC_ALL=0.6317;ExAC_AFR=0.8887;ExAC_AMR=0.6755;ExAC_EAS=0.7978;ExAC_FIN=0.5118;ExAC_NFE=0.5550;ExAC_OTH=0.648;ExAC_SAS=0.7625;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6322;gnomAD_exome_AFR=0.8877;gnomAD_exome_AMR=0.6671;gnomAD_exome_ASJ=0.6456;gnomAD_exome_EAS=0.8000;gnomAD_exome_FIN=0.5089;gnomAD_exome_NFE=0.5490;gnomAD_exome_OTH=0.6110;gnomAD_exome_SAS=0.7576;gnomAD_genome_ALL=0.6472;gnomAD_genome_AFR=0.8718;gnomAD_genome_AMR=0.6411;gnomAD_genome_ASJ=0.6523;gnomAD_genome_EAS=0.8073;gnomAD_genome_FIN=0.5069;gnomAD_genome_NFE=0.5350;gnomAD_genome_OTH=0.6006;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1436:695:17763:654:18034:-926.241,0,-952.93 +chr1 236882303 . T C 29547.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1378;CIGAR=1X;DP=1422;DPB=1422;DPRA=0;EPP=9.46484;EPPR=6.91895;GTI=0;LEN=1;MEANALT=3;MQM=36.6509;MQMR=28.4;NS=1;NUMALT=1;ODDS=1875.67;PAIRED=0.958636;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=37566;QR=110;RO=5;RPL=1084;RPP=986.476;RPPR=6.91895;RPR=294;RUN=1;SAF=499;SAP=230.558;SAR=879;SRF=3;SRP=3.44459;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon3:c.T351C:p.I117I,ACTN2:NM_001278343:exon3:c.T351C:p.I117I;cytoBand=1q43;esp6500siv2_all=0.9922;esp6500siv2_ea=0.9998;esp6500siv2_all=0.9922;esp6500siv2_ea=0.9998;1000g2015aug_all=0.992612;avsnp147=rs1341864;Kaviar_AF=0.95645;Kaviar_AC=147869;Kaviar_AN=154602;ExAC_ALL=0.9979;ExAC_AFR=0.9772;ExAC_AMR=0.9990;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=53106;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9984;gnomAD_exome_AFR=0.9784;gnomAD_exome_AMR=0.9988;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1.0000;gnomAD_exome_OTH=0.9989;gnomAD_exome_SAS=1.0000;gnomAD_genome_ALL=0.9933;gnomAD_genome_AFR=0.9767;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=0.9969;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1422:5:110:1378:37566:-3085.81,-407.772,0 +chr1 236894647 . G A 19786.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=789;CIGAR=1X;DP=798;DPB=798;DPRA=0;EPP=12.5906;EPPR=11.6962;GTI=0;LEN=1;MEANALT=3;MQM=39.6616;MQMR=41.5;NS=1;NUMALT=1;ODDS=1057.49;PAIRED=0.973384;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=24289;QR=140;RO=4;RPL=621;RPP=567.783;RPPR=5.18177;RPR=168;RUN=1;SAF=257;SAP=211.144;SAR=532;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.3980;esp6500siv2_ea=0.3102;esp6500siv2_all=0.3980;esp6500siv2_ea=0.3102;1000g2015aug_all=0.491613;avsnp147=rs819640;Kaviar_AF=0.375403;Kaviar_AC=58038;Kaviar_AN=154602;ExAC_ALL=0.3882;ExAC_AFR=0.5668;ExAC_AMR=0.3970;ExAC_EAS=0.5539;ExAC_FIN=0.2963;ExAC_NFE=0.3134;ExAC_OTH=0.3786;ExAC_SAS=0.5221;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3813;gnomAD_exome_AFR=0.5714;gnomAD_exome_AMR=0.3843;gnomAD_exome_ASJ=0.3670;gnomAD_exome_EAS=0.5485;gnomAD_exome_FIN=0.2945;gnomAD_exome_NFE=0.3086;gnomAD_exome_OTH=0.3676;gnomAD_exome_SAS=0.5225;gnomAD_genome_ALL=0.3865;gnomAD_genome_AFR=0.5585;gnomAD_genome_AMR=0.3616;gnomAD_genome_ASJ=0.3775;gnomAD_genome_EAS=0.5471;gnomAD_genome_FIN=0.2978;gnomAD_genome_NFE=0.2938;gnomAD_genome_OTH=0.3487;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:798:4:140:789:24289:-2063.1,-226.349,0 +chr1 236899042 . G A 26421.2 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1175;CIGAR=1X;DP=1257;DPB=1257;DPRA=0;EPP=8.20151;EPPR=10.2485;GTI=0;LEN=1;MEANALT=3;MQM=37.6647;MQMR=36.2667;NS=1;NUMALT=1;ODDS=1412.48;PAIRED=0.948085;PAIREDR=0.833333;PAO=0;PQA=0;PQR=0;PRO=0;QA=33360;QR=715;RO=30;RPL=904;RPP=743.508;RPPR=31.9633;RPR=271;RUN=1;SAF=476;SAP=94.9126;SAR=699;SRF=17;SRP=4.16842;SRR=13;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.1566;esp6500siv2_ea=0.1356;esp6500siv2_all=0.1566;esp6500siv2_ea=0.1356;1000g2015aug_all=0.195887;avsnp147=rs2288600;Kaviar_AF=0.15646;Kaviar_AC=24189;Kaviar_AN=154602;ExAC_ALL=0.1667;ExAC_AFR=0.2034;ExAC_AMR=0.2191;ExAC_EAS=0.1983;ExAC_FIN=0.1389;ExAC_NFE=0.1386;ExAC_OTH=0.1448;ExAC_SAS=0.2160;CLNALLELEID=172789;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1615;gnomAD_exome_AFR=0.2020;gnomAD_exome_AMR=0.2027;gnomAD_exome_ASJ=0.1196;gnomAD_exome_EAS=0.1881;gnomAD_exome_FIN=0.1408;gnomAD_exome_NFE=0.1341;gnomAD_exome_OTH=0.1437;gnomAD_exome_SAS=0.2122;gnomAD_genome_ALL=0.1547;gnomAD_genome_AFR=0.1984;gnomAD_genome_AMR=0.1885;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0.1926;gnomAD_genome_FIN=0.1466;gnomAD_genome_NFE=0.1276;gnomAD_genome_OTH=0.1324;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1257:30:715:1175:33360:-2728.45,-302.157,0 +chr1 236925844 . G A 24765.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1074;CIGAR=1X;DP=1116;DPB=1116;DPRA=0;EPP=207.468;EPPR=5.9056;GTI=0;LEN=1;MEANALT=3;MQM=36.5;MQMR=34.75;NS=1;NUMALT=1;ODDS=1389.11;PAIRED=0.874302;PAIREDR=0.916667;PAO=0;PQA=0;PQR=0;PRO=0;QA=31258;QR=367;RO=12;RPL=636;RPP=82.2751;RPPR=3.73412;RPR=438;RUN=1;SAF=468;SAP=41.5145;SAR=606;SRF=7;SRP=3.73412;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ACTN2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ACTN2:NM_001103:exon21:c.G2610A:p.S870S,ACTN2:NM_001278343:exon21:c.G2610A:p.S870S,ACTN2:NM_001278344:exon23:c.G1986A:p.S662S;cytoBand=1q43;esp6500siv2_all=0.1557;esp6500siv2_ea=0.1392;esp6500siv2_all=0.1557;esp6500siv2_ea=0.1392;1000g2015aug_all=0.196086;avsnp147=rs12063382;Kaviar_AF=0.164118;Kaviar_AC=25373;Kaviar_AN=154602;ExAC_ALL=0.1688;ExAC_AFR=0.1919;ExAC_AMR=0.2017;ExAC_EAS=0.1860;ExAC_FIN=0.2220;ExAC_NFE=0.1447;ExAC_OTH=0.1537;ExAC_SAS=0.1991;CLNALLELEID=53102;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1685;gnomAD_exome_AFR=0.1930;gnomAD_exome_AMR=0.1948;gnomAD_exome_ASJ=0.0815;gnomAD_exome_EAS=0.1844;gnomAD_exome_FIN=0.2177;gnomAD_exome_NFE=0.1441;gnomAD_exome_OTH=0.1603;gnomAD_exome_SAS=0.2007;gnomAD_genome_ALL=0.1656;gnomAD_genome_AFR=0.1811;gnomAD_genome_AMR=0.1862;gnomAD_genome_ASJ=0.06;gnomAD_genome_EAS=0.1999;gnomAD_genome_FIN=0.2156;gnomAD_genome_NFE=0.1429;gnomAD_genome_OTH=0.1537;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1116:12:367:1074:31258:-2511.59,-299.741,0 +chr1 237551376 . T A 37019.2 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1520;CIGAR=1X;DP=1554;DPB=1554;DPRA=0;EPP=166.219;EPPR=17.2236;GTI=0;LEN=1;MEANALT=3;MQM=38.5605;MQMR=33.2273;NS=1;NUMALT=1;ODDS=1961.47;PAIRED=0.959868;PAIREDR=0.863636;PAO=0;PQA=0;PQR=0;PRO=0;QA=44519;QR=409;RO=22;RPL=760;RPP=3.0103;RPPR=6.56362;RPR=760;RUN=1;SAF=815;SAP=20.2964;SAR=705;SRF=11;SRP=3.0103;SRR=11;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.5273;esp6500siv2_ea=0.5597;esp6500siv2_all=0.5273;esp6500siv2_ea=0.5597;1000g2015aug_all=0.55651;avsnp147=rs10754602;Kaviar_AF=0.558725;Kaviar_AC=86380;Kaviar_AN=154602;ExAC_ALL=0.5751;ExAC_AFR=0.4653;ExAC_AMR=0.7855;ExAC_EAS=0.6446;ExAC_FIN=0.5519;ExAC_NFE=0.5716;ExAC_OTH=0.5688;ExAC_SAS=0.4781;CLNALLELEID=52986;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5751;gnomAD_exome_AFR=0.4526;gnomAD_exome_AMR=0.7688;gnomAD_exome_ASJ=0.5472;gnomAD_exome_EAS=0.6348;gnomAD_exome_FIN=0.5357;gnomAD_exome_NFE=0.5652;gnomAD_exome_OTH=0.5813;gnomAD_exome_SAS=0.4630;gnomAD_genome_ALL=0.5325;gnomAD_genome_AFR=0.4675;gnomAD_genome_AMR=0.7446;gnomAD_genome_ASJ=0.5033;gnomAD_genome_EAS=0.6148;gnomAD_genome_FIN=0.5416;gnomAD_genome_NFE=0.5458;gnomAD_genome_OTH=0.5662;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1554:22:409:1520:44519:-3721.07,-430.594,0 +chr1 237617757 . C T 21174.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=874;CIGAR=1X;DP=911;DPB=911;DPRA=0;EPP=79.9709;EPPR=4.09604;GTI=0;LEN=1;MEANALT=3;MQM=37.6751;MQMR=32.75;NS=1;NUMALT=1;ODDS=1151.36;PAIRED=0.951945;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=25918;QR=225;RO=8;RPL=359;RPP=63.4736;RPPR=3.0103;RPR=515;RUN=1;SAF=414;SAP=8.26755;SAR=460;SRF=1;SRP=12.7819;SRR=7;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon15:c.C1359T:p.S453S;cytoBand=1q43;esp6500siv2_all=0.5119;esp6500siv2_ea=0.6005;esp6500siv2_all=0.5119;esp6500siv2_ea=0.6005;1000g2015aug_all=0.535743;avsnp147=rs3765097;Kaviar_AF=0.569876;Kaviar_AC=88104;Kaviar_AN=154602;ExAC_ALL=0.5755;ExAC_AFR=0.305;ExAC_AMR=0.6026;ExAC_EAS=0.7367;ExAC_FIN=0.5985;ExAC_NFE=0.5907;ExAC_OTH=0.5813;ExAC_SAS=0.5625;CLNALLELEID=52897;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5819;gnomAD_exome_AFR=0.3052;gnomAD_exome_AMR=0.6039;gnomAD_exome_ASJ=0.5850;gnomAD_exome_EAS=0.7291;gnomAD_exome_FIN=0.5915;gnomAD_exome_NFE=0.5953;gnomAD_exome_OTH=0.5683;gnomAD_exome_SAS=0.5589;gnomAD_genome_ALL=0.5238;gnomAD_genome_AFR=0.3184;gnomAD_genome_AMR=0.5897;gnomAD_genome_ASJ=0.6033;gnomAD_genome_EAS=0.7073;gnomAD_genome_FIN=0.5894;gnomAD_genome_NFE=0.5988;gnomAD_genome_OTH=0.5867;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:911:8:225:874:25918:-2133.78,-248.736,0 +chr1 237620049 . T C 22374.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=986;CIGAR=1X;DP=1027;DPB=1027;DPRA=0;EPP=154.185;EPPR=3.32051;GTI=0;LEN=1;MEANALT=3;MQM=38.4929;MQMR=31.4286;NS=1;NUMALT=1;ODDS=1315.99;PAIRED=0.933063;PAIREDR=0.857143;PAO=0;PQA=0;PQR=0;PRO=0;QA=27493;QR=156;RO=7;RPL=732;RPP=506.202;RPPR=5.80219;RPR=254;RUN=1;SAF=478;SAP=4.99237;SAR=508;SRF=2;SRP=5.80219;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.4634;esp6500siv2_ea=0.5441;esp6500siv2_all=0.4634;esp6500siv2_ea=0.5441;1000g2015aug_all=0.53115;avsnp147=rs2045955;Kaviar_AF=0.542658;Kaviar_AC=83896;Kaviar_AN=154602;ExAC_ALL=0.5514;ExAC_AFR=0.2931;ExAC_AMR=0.5917;ExAC_EAS=0.7990;ExAC_FIN=0.5796;ExAC_NFE=0.5449;ExAC_OTH=0.5580;ExAC_SAS=0.5618;CLNALLELEID=52921;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5567;gnomAD_exome_AFR=0.2935;gnomAD_exome_AMR=0.5882;gnomAD_exome_ASJ=0.5491;gnomAD_exome_EAS=0.7929;gnomAD_exome_FIN=0.5697;gnomAD_exome_NFE=0.5458;gnomAD_exome_OTH=0.5450;gnomAD_exome_SAS=0.5555;gnomAD_genome_ALL=0.4984;gnomAD_genome_AFR=0.3107;gnomAD_genome_AMR=0.5624;gnomAD_genome_ASJ=0.57;gnomAD_genome_EAS=0.7823;gnomAD_genome_FIN=0.5657;gnomAD_genome_NFE=0.5521;gnomAD_genome_OTH=0.5643;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1027:7:156:986:27493:-2308.01,-285.738,0 +chr1 237670140 . A G 5723.69 . AB=0.497823;ABP=3.03866;AC=1;AF=0.5;AN=2;AO=343;CIGAR=1X;DP=689;DPB=689;DPRA=0;EPP=12.6395;EPPR=37.7604;GTI=0;LEN=1;MEANALT=3;MQM=38.5714;MQMR=38.8829;NS=1;NUMALT=1;ODDS=1317.93;PAIRED=0.93586;PAIREDR=0.963964;PAO=0;PQA=0;PQR=0;PRO=0;QA=9256;QR=9855;RO=333;RPL=178;RPP=4.08021;RPPR=13.972;RPR=165;RUN=1;SAF=154;SAP=10.7656;SAR=189;SRF=137;SRP=25.7097;SRR=196;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.7105;esp6500siv2_ea=0.6578;esp6500siv2_all=0.7105;esp6500siv2_ea=0.6578;1000g2015aug_all=0.699481;avsnp147=rs2618702;Kaviar_AF=0.653497;Kaviar_AC=101032;Kaviar_AN=154602;ExAC_ALL=0.6804;ExAC_AFR=0.8394;ExAC_AMR=0.6534;ExAC_EAS=0.7145;ExAC_FIN=0.7363;ExAC_NFE=0.6691;ExAC_OTH=0.6991;ExAC_SAS=0.6048;CLNALLELEID=249819;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6670;gnomAD_exome_AFR=0.8409;gnomAD_exome_AMR=0.6317;gnomAD_exome_ASJ=0.5533;gnomAD_exome_EAS=0.7078;gnomAD_exome_FIN=0.7270;gnomAD_exome_NFE=0.6648;gnomAD_exome_OTH=0.6461;gnomAD_exome_SAS=0.6004;gnomAD_genome_ALL=0.7228;gnomAD_genome_AFR=0.8341;gnomAD_genome_AMR=0.6005;gnomAD_genome_ASJ=0.5695;gnomAD_genome_EAS=0.7191;gnomAD_genome_FIN=0.7370;gnomAD_genome_NFE=0.6682;gnomAD_genome_OTH=0.6748;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:689:333:9855:343:9256:-581.855,0,-623.151 +chr1 237711797 . A G 16335.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=649;CIGAR=1X;DP=666;DPB=666;DPRA=0;EPP=48.812;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=38.0293;MQMR=23;NS=1;NUMALT=1;ODDS=891.447;PAIRED=0.946071;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=19705;QR=50;RO=2;RPL=259;RPP=60.4288;RPPR=7.35324;RPR=390;RUN=1;SAF=326;SAP=3.04041;SAR=323;SRF=2;SRP=7.35324;SRR=0;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon26:c.A2973G:p.S991S;cytoBand=1q43;esp6500siv2_all=0.8511;esp6500siv2_ea=0.9585;esp6500siv2_all=0.8511;esp6500siv2_ea=0.9585;1000g2015aug_all=0.830272;avsnp147=rs2253273;Kaviar_AF=0.908384;Kaviar_AC=140438;Kaviar_AN=154602;ExAC_ALL=0.9262;ExAC_AFR=0.5994;ExAC_AMR=0.9575;ExAC_EAS=0.8849;ExAC_FIN=0.9710;ExAC_NFE=0.9594;ExAC_OTH=0.9499;ExAC_SAS=0.9663;CLNALLELEID=52932;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9329;gnomAD_exome_AFR=0.5968;gnomAD_exome_AMR=0.9564;gnomAD_exome_ASJ=0.9549;gnomAD_exome_EAS=0.8865;gnomAD_exome_FIN=0.9730;gnomAD_exome_NFE=0.9589;gnomAD_exome_OTH=0.9437;gnomAD_exome_SAS=0.9670;gnomAD_genome_ALL=0.8540;gnomAD_genome_AFR=0.6002;gnomAD_genome_AMR=0.9414;gnomAD_genome_ASJ=0.9603;gnomAD_genome_EAS=0.8838;gnomAD_genome_FIN=0.9762;gnomAD_genome_NFE=0.9567;gnomAD_genome_OTH=0.9450;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:666:2:50:649:19705:-1646.62,-192.699,0 +chr1 237753074 . ATTTTTTTTTTC ATTTTTTTTTC 4557.98 . AB=0.459098;ABP=11.7143;AC=1;AF=0.5;AN=2;AO=275;CIGAR=1M1D10M;DP=599;DPB=591.333;DPRA=0;EPP=3.6499;EPPR=3.71219;GTI=0;LEN=1;MEANALT=55;MQM=39.1745;MQMR=39.3131;NS=1;NUMALT=1;ODDS=778.444;PAIRED=0.985455;PAIREDR=0.959596;PAO=27;PQA=603.5;PQR=603.5;PRO=27;QA=7479;QR=6264;RO=198;RPL=91;RPP=71.3051;RPPR=91.8433;RPR=184;RUN=1;SAF=183;SAP=68.3993;SAR=92;SRF=121;SRP=24.2425;SRR=77;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.3469;esp6500siv2_ea=0.4430;esp6500siv2_all=0.3469;esp6500siv2_ea=0.4430;1000g2015aug_all=0.285144;avsnp147=rs11331089;Kaviar_AF=0.012005;Kaviar_AC=1856;Kaviar_AN=154602;ExAC_ALL=0.4622;ExAC_AFR=0.1557;ExAC_AMR=0.6425;ExAC_EAS=0.3421;ExAC_FIN=0.5085;ExAC_NFE=0.4969;ExAC_OTH=0.4763;ExAC_SAS=0.3795;CLNALLELEID=45402;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4554;gnomAD_exome_AFR=0.1343;gnomAD_exome_AMR=0.6095;gnomAD_exome_ASJ=0.4804;gnomAD_exome_EAS=0.3095;gnomAD_exome_FIN=0.5078;gnomAD_exome_NFE=0.4791;gnomAD_exome_OTH=0.4699;gnomAD_exome_SAS=0.3630;gnomAD_genome_ALL=0.3537;gnomAD_genome_AFR=0.1250;gnomAD_genome_AMR=0.5570;gnomAD_genome_ASJ=0.4467;gnomAD_genome_EAS=0.2506;gnomAD_genome_FIN=0.4796;gnomAD_genome_NFE=0.4511;gnomAD_genome_OTH=0.4165;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:599:198:6264:275:7479:-479.559,0,-359.346 +chr1 237814783 . C T 25784.7 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=981;CIGAR=1X;DP=996;DPB=996;DPRA=0;EPP=6.37708;EPPR=4.45795;GTI=0;LEN=1;MEANALT=3;MQM=40.2518;MQMR=42;NS=1;NUMALT=1;ODDS=1304.22;PAIRED=0.978593;PAIREDR=0.833333;PAO=0;PQA=0;PQR=0;PRO=0;QA=30214;QR=184;RO=6;RPL=401;RPP=73.934;RPPR=3.0103;RPR=580;RUN=1;SAF=466;SAP=8.32498;SAR=515;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon51:c.C7806T:p.H2602H;cytoBand=1q43;esp6500siv2_all=0.4507;esp6500siv2_ea=0.4361;esp6500siv2_all=0.4507;esp6500siv2_ea=0.4361;1000g2015aug_all=0.554912;avsnp147=rs684923;Kaviar_AF=0.427834;Kaviar_AC=66144;Kaviar_AN=154602;ExAC_ALL=0.5198;ExAC_AFR=0.5164;ExAC_AMR=0.5646;ExAC_EAS=0.7888;ExAC_FIN=0.5098;ExAC_NFE=0.4739;ExAC_OTH=0.4895;ExAC_SAS=0.5243;CLNALLELEID=52996;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4755;gnomAD_exome_AFR=0.4743;gnomAD_exome_AMR=0.5052;gnomAD_exome_ASJ=0.3020;gnomAD_exome_EAS=0.7908;gnomAD_exome_FIN=0.4899;gnomAD_exome_NFE=0.4232;gnomAD_exome_OTH=0.4459;gnomAD_exome_SAS=0.4991;gnomAD_genome_ALL=0.4881;gnomAD_genome_AFR=0.5021;gnomAD_genome_AMR=0.4940;gnomAD_genome_ASJ=0.2947;gnomAD_genome_EAS=0.8125;gnomAD_genome_FIN=0.4991;gnomAD_genome_NFE=0.4477;gnomAD_genome_OTH=0.4603;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:996:6:184:981:30214:-2589.61,-280.761,0 +chr1 237863718 . T G 20429.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=968;CIGAR=1X;DP=1018;DPB=1018;DPRA=0;EPP=5.91756;EPPR=71.1757;GTI=0;LEN=1;MEANALT=2;MQM=34.4194;MQMR=28.8043;NS=1;NUMALT=1;ODDS=1117.37;PAIRED=0.938017;PAIREDR=0.891304;PAO=0;PQA=0;PQR=0;PRO=0;QA=26479;QR=796;RO=46;RPL=636;RPP=210.323;RPPR=21.8927;RPR=332;RUN=1;SAF=450;SAP=13.3831;SAR=518;SRF=11;SRP=30.2009;SRR=35;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon65:c.T9318G:p.S3106S;cytoBand=1q43;esp6500siv2_all=0.9718;esp6500siv2_ea=0.9995;esp6500siv2_all=0.9718;esp6500siv2_ea=0.9995;1000g2015aug_all=0.969249;avsnp147=rs2797436;Kaviar_AF=0.971902;Kaviar_AC=150258;Kaviar_AN=154602;ExAC_ALL=0.9917;ExAC_AFR=0.9080;ExAC_AMR=0.9953;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9994;ExAC_OTH=0.9954;ExAC_SAS=0.9992;CLNALLELEID=53005;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9928;gnomAD_exome_AFR=0.9020;gnomAD_exome_AMR=0.9953;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=0.9997;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9994;gnomAD_exome_OTH=0.9937;gnomAD_exome_SAS=0.9993;gnomAD_genome_ALL=0.9715;gnomAD_genome_AFR=0.9005;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9993;gnomAD_genome_OTH=0.9969;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1018:46:796:968:26479:-2054.96,-242.913,0 +chr1 237881770 . C T 26619.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1037;CIGAR=1X;DP=1045;DPB=1045;DPRA=0;EPP=76.2352;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=40.459;MQMR=42;NS=1;NUMALT=1;ODDS=1431.39;PAIRED=0.969142;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=31026;QR=36;RO=1;RPL=383;RPP=156.795;RPPR=5.18177;RPR=654;RUN=1;SAF=526;SAP=3.48145;SAR=511;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon73:c.C10503T:p.T3501T;cytoBand=1q43;esp6500siv2_all=0.9616;esp6500siv2_ea=0.9995;esp6500siv2_all=0.9616;esp6500siv2_ea=0.9995;1000g2015aug_all=0.960463;avsnp147=rs2797441;Kaviar_AF=0.966372;Kaviar_AC=149403;Kaviar_AN=154602;ExAC_ALL=0.9886;ExAC_AFR=0.8706;ExAC_AMR=0.9952;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9995;ExAC_OTH=0.9933;ExAC_SAS=0.9992;CLNALLELEID=52868;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9906;gnomAD_exome_AFR=0.8686;gnomAD_exome_AMR=0.9949;gnomAD_exome_ASJ=0.9999;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9995;gnomAD_exome_OTH=0.9917;gnomAD_exome_SAS=0.9993;gnomAD_genome_ALL=0.9623;gnomAD_genome_AFR=0.8678;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9995;gnomAD_genome_OTH=0.9949;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1045:1:36:1037:31026:-2688.8,-309.29,0 +chr1 237893674 . C T 24563.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1110;CIGAR=1X;DP=1144;DPB=1144;DPRA=0;EPP=48.2082;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=40.1523;MQMR=32;NS=1;NUMALT=1;ODDS=1529.89;PAIRED=0.981982;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=29748;QR=28;RO=2;RPL=772;RPP=371.488;RPPR=3.0103;RPR=338;RUN=1;SAF=255;SAP=707.272;SAR=855;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.9854;esp6500siv2_ea=0.9998;esp6500siv2_all=0.9854;esp6500siv2_ea=0.9998;1000g2015aug_all=0.985224;avsnp147=rs2797445;Kaviar_AF=0.0001035;Kaviar_AC=16;Kaviar_AN=154602;ExAC_ALL=0.9954;ExAC_AFR=0.9473;ExAC_AMR=0.9979;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9999;ExAC_OTH=0.9966;ExAC_SAS=0.9999;CLNALLELEID=195829;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9962;gnomAD_exome_AFR=0.9464;gnomAD_exome_AMR=0.9979;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9965;gnomAD_exome_SAS=1.0000;gnomAD_genome_ALL=0.9853;gnomAD_genome_AFR=0.9485;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9998;gnomAD_genome_OTH=0.9980;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1144:2:28:1110:29748:-2576.65,-332.262,0 +chr1 237905568 . TCC TCCC 543.536 . AB=0.229614;ABP=298.927;AC=1;AF=0.5;AN=2;AO=107;CIGAR=1M1I2M;DP=466;DPB=507.667;DPRA=0;EPP=4.65412;EPPR=19.3988;GTI=0;LEN=1;MEANALT=32;MQM=29.0093;MQMR=31.066;NS=1;NUMALT=1;ODDS=125.154;PAIRED=0.981308;PAIREDR=0.976415;PAO=1;PQA=0;PQR=0;PRO=1;QA=2178;QR=5938;RO=212;RPL=61;RPP=7.57648;RPPR=9.93443;RPR=46;RUN=1;SAF=96;SAP=149.635;SAR=11;SRF=187;SRP=271.822;SRR=25;TYPE=ins;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 0/1:466:212:5938:107:2178:-85.8891,0,-335.311 +chr1 237923053 . C T 9416.69 . AB=0.490548;ABP=3.83127;AC=1;AF=0.5;AN=2;AO=519;CIGAR=1X;DP=1058;DPB=1058;DPRA=0;EPP=266.604;EPPR=228.504;GTI=0;LEN=1;MEANALT=3;MQM=40.4605;MQMR=40.7545;NS=1;NUMALT=1;ODDS=2168.27;PAIRED=0.988439;PAIREDR=0.976238;PAO=0;PQA=0;PQR=0;PRO=0;QA=14774;QR=14791;RO=505;RPL=238;RPP=10.7464;RPPR=5.69777;RPR=281;RUN=1;SAF=274;SAP=6.52901;SAR=245;SRF=256;SRP=3.221;SRR=249;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.7260;esp6500siv2_ea=0.6923;esp6500siv2_all=0.7260;esp6500siv2_ea=0.6923;1000g2015aug_all=0.761581;avsnp147=rs2253831;Kaviar_AF=0.69688;Kaviar_AC=107739;Kaviar_AN=154602;ExAC_ALL=0.7109;ExAC_AFR=0.7998;ExAC_AMR=0.7357;ExAC_EAS=0.7763;ExAC_FIN=0.7446;ExAC_NFE=0.6849;ExAC_OTH=0.7222;ExAC_SAS=0.6978;CLNALLELEID=249833;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7134;gnomAD_exome_AFR=0.8010;gnomAD_exome_AMR=0.7381;gnomAD_exome_ASJ=0.7137;gnomAD_exome_EAS=0.7783;gnomAD_exome_FIN=0.7392;gnomAD_exome_NFE=0.6833;gnomAD_exome_OTH=0.7127;gnomAD_exome_SAS=0.6973;gnomAD_genome_ALL=0.7296;gnomAD_genome_AFR=0.7983;gnomAD_genome_AMR=0.7602;gnomAD_genome_ASJ=0.7053;gnomAD_genome_EAS=0.7803;gnomAD_genome_FIN=0.7470;gnomAD_genome_NFE=0.6808;gnomAD_genome_OTH=0.7004;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1058:505:14791:519:14774:-978.245,0,-981.811 +chr1 237951451 . A G 10065.3 . AB=0.509548;ABP=3.79814;AC=1;AF=0.5;AN=2;AO=507;CIGAR=1X;DP=995;DPB=995;DPRA=0;EPP=3.97397;EPPR=17.8009;GTI=0;LEN=1;MEANALT=3;MQM=39.4024;MQMR=39.4046;NS=1;NUMALT=1;ODDS=2184.32;PAIRED=0.976331;PAIREDR=0.966457;PAO=0;PQA=0;PQR=0;PRO=0;QA=15777;QR=15115;RO=477;RPL=349;RPP=159.258;RPPR=194.323;RPR=158;RUN=1;SAF=159;SAP=156.003;SAR=348;SRF=173;SRP=81.1332;SRR=304;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.6176;esp6500siv2_ea=0.5443;esp6500siv2_all=0.6176;esp6500siv2_ea=0.5443;1000g2015aug_all=0.636581;avsnp147=rs2256242;Kaviar_AF=0.549178;Kaviar_AC=84904;Kaviar_AN=154602;ExAC_ALL=0.5750;ExAC_AFR=0.7756;ExAC_AMR=0.4468;ExAC_EAS=0.6762;ExAC_FIN=0.5189;ExAC_NFE=0.5490;ExAC_OTH=0.6012;ExAC_SAS=0.6129;CLNALLELEID=99381;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5568;gnomAD_exome_AFR=0.7715;gnomAD_exome_AMR=0.4487;gnomAD_exome_ASJ=0.6154;gnomAD_exome_EAS=0.6697;gnomAD_exome_FIN=0.5157;gnomAD_exome_NFE=0.5343;gnomAD_exome_OTH=0.5459;gnomAD_exome_SAS=0.6003;gnomAD_genome_ALL=0.6090;gnomAD_genome_AFR=0.7662;gnomAD_genome_AMR=0.4749;gnomAD_genome_ASJ=0.6258;gnomAD_genome_EAS=0.6894;gnomAD_genome_FIN=0.5272;gnomAD_genome_NFE=0.5375;gnomAD_genome_OTH=0.5723;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:995:477:15115:507:15777:-1046.39,0,-985.844 +chr1 237957146 . G A 7234.88 . AB=0.46841;ABP=10.9676;AC=1;AF=0.5;AN=2;AO=430;CIGAR=1X;DP=918;DPB=918;DPRA=0;EPP=225.712;EPPR=174.741;GTI=0;LEN=1;MEANALT=3;MQM=39.1767;MQMR=41.0318;NS=1;NUMALT=1;ODDS=1665.89;PAIRED=0.97907;PAIREDR=0.96603;PAO=0;PQA=0;PQR=0;PRO=0;QA=12180;QR=13899;RO=471;RPL=165;RPP=53.5097;RPPR=192.998;RPR=265;RUN=1;SAF=261;SAP=45.753;SAR=169;SRF=247;SRP=5.44917;SRR=224;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.6242;esp6500siv2_ea=0.6579;esp6500siv2_all=0.6242;esp6500siv2_ea=0.6579;1000g2015aug_all=0.734026;avsnp147=rs790902;Kaviar_AF=0.676544;Kaviar_AC=104595;Kaviar_AN=154602;ExAC_ALL=0.7134;ExAC_AFR=0.5567;ExAC_AMR=0.8266;ExAC_EAS=0.9371;ExAC_FIN=0.6880;ExAC_NFE=0.6639;ExAC_OTH=0.7035;ExAC_SAS=0.8241;CLNALLELEID=249836;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7112;gnomAD_exome_AFR=0.5425;gnomAD_exome_AMR=0.8138;gnomAD_exome_ASJ=0.6171;gnomAD_exome_EAS=0.9422;gnomAD_exome_FIN=0.6813;gnomAD_exome_NFE=0.6539;gnomAD_exome_OTH=0.6830;gnomAD_exome_SAS=0.8223;gnomAD_genome_ALL=0.6573;gnomAD_genome_AFR=0.5506;gnomAD_genome_AMR=0.7995;gnomAD_genome_ASJ=0.6457;gnomAD_genome_EAS=0.9561;gnomAD_genome_FIN=0.6647;gnomAD_genome_NFE=0.6755;gnomAD_genome_OTH=0.6906;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:918:471:13899:430:12180:-764.289,0,-945.159 +chr1 237957161 . A G 9232.09 . AB=0.484609;ABP=5.34984;AC=1;AF=0.5;AN=2;AO=551;CIGAR=1X;DP=1137;DPB=1137;DPRA=0;EPP=168.629;EPPR=104.413;GTI=0;LEN=1;MEANALT=3;MQM=39.4211;MQMR=40.4786;NS=1;NUMALT=1;ODDS=2125.77;PAIRED=0.980036;PAIREDR=0.960854;PAO=0;PQA=0;PQR=0;PRO=0;QA=15203;QR=15890;RO=562;RPL=156;RPP=228.122;RPPR=256.23;RPR=395;RUN=1;SAF=289;SAP=5.88326;SAR=262;SRF=283;SRP=3.07212;SRR=279;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.6514;esp6500siv2_ea=0.6785;esp6500siv2_all=0.6514;esp6500siv2_ea=0.6785;1000g2015aug_all=0.757588;avsnp147=rs790901;Kaviar_AF=0.0035252;Kaviar_AC=545;Kaviar_AN=154602;ExAC_ALL=0.7399;ExAC_AFR=0.5959;ExAC_AMR=0.8436;ExAC_EAS=0.9441;ExAC_FIN=0.7158;ExAC_NFE=0.6873;ExAC_OTH=0.7238;ExAC_SAS=0.8658;CLNALLELEID=52900;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7376;gnomAD_exome_AFR=0.5866;gnomAD_exome_AMR=0.8267;gnomAD_exome_ASJ=0.6537;gnomAD_exome_EAS=0.9471;gnomAD_exome_FIN=0.7089;gnomAD_exome_NFE=0.6791;gnomAD_exome_OTH=0.7018;gnomAD_exome_SAS=0.8621;gnomAD_genome_ALL=0.6830;gnomAD_genome_AFR=0.5929;gnomAD_genome_AMR=0.8091;gnomAD_genome_ASJ=0.6821;gnomAD_genome_EAS=0.9580;gnomAD_genome_FIN=0.6922;gnomAD_genome_NFE=0.6941;gnomAD_genome_OTH=0.7182;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1137:562:15890:551:15203:-971.713,0,-1042.68 +chr1 237957309 . A C 7445.14 . AB=0.469363;ABP=9.6631;AC=1;AF=0.5;AN=2;AO=383;CIGAR=1X;DP=816;DPB=816;DPRA=0;EPP=36.6256;EPPR=202.847;GTI=0;LEN=1;MEANALT=3;MQM=39.9426;MQMR=40.4507;NS=1;NUMALT=1;ODDS=1714.31;PAIRED=0.976501;PAIREDR=0.985915;PAO=0;PQA=0;PQR=0;PRO=0;QA=11629;QR=13031;RO=426;RPL=169;RPP=14.4913;RPPR=22.6045;RPR=214;RUN=1;SAF=162;SAP=22.7463;SAR=221;SRF=184;SRP=20.1578;SRR=242;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=1q43;esp6500siv2_all=0.6478;esp6500siv2_ea=0.6684;esp6500siv2_all=0.6478;esp6500siv2_ea=0.6684;1000g2015aug_all=0.750799;avsnp147=rs790900;Kaviar_AF=0.709325;Kaviar_AC=109663;Kaviar_AN=154602;ExAC_ALL=0.7273;ExAC_AFR=0.6015;ExAC_AMR=0.8362;ExAC_EAS=0.9444;ExAC_FIN=0.7098;ExAC_NFE=0.6717;ExAC_OTH=0.7081;ExAC_SAS=0.8434;CLNALLELEID=52901;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7319;gnomAD_exome_AFR=0.5987;gnomAD_exome_AMR=0.8245;gnomAD_exome_ASJ=0.6529;gnomAD_exome_EAS=0.9468;gnomAD_exome_FIN=0.7076;gnomAD_exome_NFE=0.6715;gnomAD_exome_OTH=0.6948;gnomAD_exome_SAS=0.8460;gnomAD_genome_ALL=0.6803;gnomAD_genome_AFR=0.6020;gnomAD_genome_AMR=0.7995;gnomAD_genome_ASJ=0.6755;gnomAD_genome_EAS=0.9579;gnomAD_genome_FIN=0.6896;gnomAD_genome_NFE=0.6851;gnomAD_genome_OTH=0.7122;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:816:426:13031:383:11629:-759.232,0,-886.959 +chr10 18439813 . C T 117.741 . AB=0.41048;ABP=18.9502;AC=1;AF=0.5;AN=2;AO=94;CIGAR=1X;DP=229;DPB=229;DPRA=0;EPP=207.129;EPPR=33.5919;GTI=0;LEN=1;MEANALT=3;MQM=21.3617;MQMR=27.1667;NS=1;NUMALT=1;ODDS=8.7847;PAIRED=0.819149;PAIREDR=0.875;PAO=0;PQA=0;PQR=0;PRO=0;QA=1393;QR=883;RO=48;RPL=55;RPP=8.9241;RPPR=61.6401;RPR=39;RUN=1;SAF=55;SAP=8.9241;SAR=39;SRF=17;SRP=11.8771;SRR=31;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNB2:NM_001167945:exon2:c.C38T:p.S13L,CACNB2:NM_201571:exon2:c.C38T:p.S13L,CACNB2:NM_201572:exon2:c.C38T:p.S13L,CACNB2:NM_201593:exon2:c.C122T:p.S41L,CACNB2:NM_201596:exon2:c.C122T:p.S41L,CACNB2:NM_201597:exon2:c.C122T:p.S41L;cytoBand=10p12.33;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs779840568;Kaviar_AF=1.29e-05;Kaviar_AC=2;Kaviar_AN=154602;ExAC_ALL=1.36e-05;ExAC_AFR=0;ExAC_AMR=0.0002;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.376;SIFT_pred=T;Polyphen2_HDIV_score=0.421;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.083;Polyphen2_HVAR_pred=B;LRT_score=0.057;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=N;MutationAssessor_score=0.205;MutationAssessor_pred=N;FATHMM_score=-1.62;FATHMM_pred=D;PROVEAN_score=-0.58;PROVEAN_pred=N;VEST3_score=0.48;CADD_raw=3.072;CADD_phred=22.4;DANN_score=0.995;fathmm-MKL_coding_score=0.935;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.447;MetaSVM_pred=T;MetaLR_score=0.329;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.7;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.766;phastCons20way_mammalian=0.967;SiPhy_29way_logOdds=18.620;hgmdPRO=.;gnomAD_exome_ALL=0.0002;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0008;gnomAD_exome_ASJ=0.0003;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0;gnomAD_exome_NFE=5.589e-05;gnomAD_exome_OTH=0.0021;gnomAD_exome_SAS=0.0002;gnomAD_genome_ALL=0.0004;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0004;gnomAD_genome_OTH=0;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 0/1:229:48:883:94:1393:-49.8642,0,-23.5387 +chr10 21074724 . T C 2973.61 . AB=0.493036;ABP=3.16152;AC=1;AF=0.5;AN=2;AO=177;CIGAR=1X;DP=359;DPB=359;DPRA=0;EPP=18.0389;EPPR=66.2842;GTI=0;LEN=1;MEANALT=3;MQM=38.4746;MQMR=39.0462;NS=1;NUMALT=1;ODDS=684.7;PAIRED=0.932203;PAIREDR=0.947977;PAO=0;PQA=0;PQR=0;PRO=0;QA=4995;QR=5320;RO=173;RPL=40;RPP=118.442;RPPR=66.2842;RPR=137;RUN=1;SAF=109;SAP=23.6332;SAR=68;SRF=100;SRP=12.1606;SRR=73;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_213569:exon7:c.A765G:p.T255T,NEBL:NM_006393:exon28:c.A2997G:p.T999T;cytoBand=10p12.31;esp6500siv2_all=0.0930;esp6500siv2_ea=0.0762;esp6500siv2_all=0.0930;esp6500siv2_ea=0.0762;1000g2015aug_all=0.0666933;avsnp147=rs2296614;Kaviar_AF=0.076836;Kaviar_AC=11879;Kaviar_AN=154602;ExAC_ALL=0.0779;ExAC_AFR=0.1195;ExAC_AMR=0.1618;ExAC_EAS=0.0008;ExAC_FIN=0.0569;ExAC_NFE=0.0737;ExAC_OTH=0.0839;ExAC_SAS=0.0585;CLNALLELEID=54663;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0799;gnomAD_exome_AFR=0.1219;gnomAD_exome_AMR=0.1558;gnomAD_exome_ASJ=0.0959;gnomAD_exome_EAS=0.0008;gnomAD_exome_FIN=0.0535;gnomAD_exome_NFE=0.0734;gnomAD_exome_OTH=0.0815;gnomAD_exome_SAS=0.0583;gnomAD_genome_ALL=0.0830;gnomAD_genome_AFR=0.1155;gnomAD_genome_AMR=0.1360;gnomAD_genome_ASJ=0.1026;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0510;gnomAD_genome_NFE=0.0776;gnomAD_genome_OTH=0.0743;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:359:173:5320:177:4995:-320.11,0,-345.597 +chr10 21112111 . A T 11175.5 . AB=0.535398;ABP=15.3089;AC=1;AF=0.5;AN=2;AO=605;CIGAR=1X;DP=1130;DPB=1130;DPRA=0;EPP=6.45953;EPPR=3.21297;GTI=0;LEN=1;MEANALT=1;MQM=39.9455;MQMR=41.1314;NS=1;NUMALT=1;ODDS=2195.48;PAIRED=0.991736;PAIREDR=0.99619;PAO=0;PQA=0;PQR=0;PRO=0;QA=17240;QR=15079;RO=525;RPL=232;RPP=74.3674;RPPR=71.8398;RPR=373;RUN=1;SAF=407;SAP=159.791;SAR=198;SRF=345;SRP=115.617;SRR=180;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;esp6500siv2_all=0.1945;esp6500siv2_ea=0.2187;esp6500siv2_all=0.1945;esp6500siv2_ea=0.2187;1000g2015aug_all=0.302117;avsnp147=rs11012353;Kaviar_AF=0.0008085;Kaviar_AC=125;Kaviar_AN=154602;ExAC_ALL=0.3235;ExAC_AFR=0.2168;ExAC_AMR=0.2654;ExAC_EAS=0.5266;ExAC_FIN=0.2365;ExAC_NFE=0.3146;ExAC_OTH=0.2891;ExAC_SAS=0.3921;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2940;gnomAD_exome_AFR=0.1889;gnomAD_exome_AMR=0.2543;gnomAD_exome_ASJ=0.3002;gnomAD_exome_EAS=0.4985;gnomAD_exome_FIN=0.2220;gnomAD_exome_NFE=0.2795;gnomAD_exome_OTH=0.2875;gnomAD_exome_SAS=0.3717;gnomAD_genome_ALL=0.2580;gnomAD_genome_AFR=0.1968;gnomAD_genome_AMR=0.2494;gnomAD_genome_ASJ=0.3444;gnomAD_genome_EAS=0.5119;gnomAD_genome_FIN=0.2186;gnomAD_genome_NFE=0.2738;gnomAD_genome_OTH=0.2678;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1130:525:15079:605:17240:-1150.39,0,-981.106 +chr10 21120116 . A G 8888.25 . AB=0.479187;ABP=6.89709;AC=1;AF=0.5;AN=2;AO=495;CIGAR=1X;DP=1033;DPB=1033;DPRA=0;EPP=44.2858;EPPR=45.3644;GTI=0;LEN=1;MEANALT=3;MQM=37.9798;MQMR=39.0497;NS=1;NUMALT=1;ODDS=2046.6;PAIRED=0.951515;PAIREDR=0.959847;PAO=0;PQA=0;PQR=0;PRO=0;QA=14940;QR=16796;RO=523;RPL=193;RPP=55.13;RPPR=69.9772;RPR=302;RUN=1;SAF=359;SAP=221.162;SAR=136;SRF=380;SRP=236.221;SRR=143;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;esp6500siv2_all=0.4302;esp6500siv2_ea=0.3458;esp6500siv2_all=0.4302;esp6500siv2_ea=0.3458;1000g2015aug_all=0.46905;avsnp147=rs10491056;Kaviar_AF=0.379342;Kaviar_AC=58647;Kaviar_AN=154602;ExAC_ALL=0.3893;ExAC_AFR=0.6068;ExAC_AMR=0.3091;ExAC_EAS=0.5522;ExAC_FIN=0.2668;ExAC_NFE=0.3503;ExAC_OTH=0.3642;ExAC_SAS=0.4319;CLNALLELEID=54650;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3846;gnomAD_exome_AFR=0.6098;gnomAD_exome_AMR=0.3134;gnomAD_exome_ASJ=0.4177;gnomAD_exome_EAS=0.5603;gnomAD_exome_FIN=0.2806;gnomAD_exome_NFE=0.3524;gnomAD_exome_OTH=0.3795;gnomAD_exome_SAS=0.4328;gnomAD_genome_ALL=0.4218;gnomAD_genome_AFR=0.6096;gnomAD_genome_AMR=0.3309;gnomAD_genome_ASJ=0.4735;gnomAD_genome_EAS=0.5752;gnomAD_genome_FIN=0.2744;gnomAD_genome_NFE=0.3394;gnomAD_genome_OTH=0.35;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1033:523:16796:495:14940:-928.892,0,-1104.37 +chr10 21141440 . AGG AG 3925.41 . AB=0.414669;ABP=47.8517;AC=1;AF=0.5;AN=2;AO=294;CIGAR=1M1D1M;DP=709;DPB=615;DPRA=0;EPP=135.633;EPPR=47.4553;GTI=0;LEN=1;MEANALT=15;MQM=36.4626;MQMR=38.4005;NS=1;NUMALT=1;ODDS=903.859;PAIRED=0.959184;PAIREDR=0.958656;PAO=7.5;PQA=41;PQR=41;PRO=7.5;QA=8027;QR=11746;RO=387;RPL=84;RPP=120.27;RPPR=69.6751;RPR=210;RUN=1;SAF=226;SAP=187.393;SAR=68;SRF=287;SRP=199.223;SRR=100;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 0/1:709:387:11746:294:8027:-447.974,0,-770.721 +chr10 21177156 . GAAAAAAAT GAAAAAAT 2407.51 . AB=0.396789;ABP=43.3519;AC=1;AF=0.5;AN=2;AO=173;CIGAR=1M1D7M;DP=436;DPB=425.778;DPRA=0;EPP=28.4278;EPPR=85.6582;GTI=0;LEN=1;MEANALT=44;MQM=39.9017;MQMR=40.674;NS=1;NUMALT=1;ODDS=554.35;PAIRED=1;PAIREDR=0.98895;PAO=8.5;PQA=215;PQR=143;PRO=5.5;QA=4025;QR=5148;RO=181;RPL=102;RPP=15.0726;RPPR=8.30101;RPR=71;RUN=1;SAF=106;SAP=22.1017;SAR=67;SRF=112;SRP=25.1929;SRR=69;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10p12.31;esp6500siv2_all=0.5951;esp6500siv2_ea=0.6444;esp6500siv2_all=0.5951;esp6500siv2_ea=0.6444;1000g2015aug_all=0.540535;avsnp147=rs67288319;Kaviar_AF=0.0027361;Kaviar_AC=423;Kaviar_AN=154602;ExAC_ALL=0.6124;ExAC_AFR=0.5036;ExAC_AMR=0.5955;ExAC_EAS=0.4144;ExAC_FIN=0.7378;ExAC_NFE=0.6507;ExAC_OTH=0.6327;ExAC_SAS=0.5808;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5983;gnomAD_exome_AFR=0.4860;gnomAD_exome_AMR=0.5908;gnomAD_exome_ASJ=0.5353;gnomAD_exome_EAS=0.3743;gnomAD_exome_FIN=0.7184;gnomAD_exome_NFE=0.6390;gnomAD_exome_OTH=0.5976;gnomAD_exome_SAS=0.5700;gnomAD_genome_ALL=0.5936;gnomAD_genome_AFR=0.4865;gnomAD_genome_AMR=0.5627;gnomAD_genome_ASJ=0.4901;gnomAD_genome_EAS=0.3377;gnomAD_genome_FIN=0.7246;gnomAD_genome_NFE=0.6549;gnomAD_genome_OTH=0.6321;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:436:181:5148:173:4025:-253.492,0,-341.176 +chr10 67726514 . A C 7596.31 . AB=0.430934;ABP=45.6033;AC=1;AF=0.5;AN=2;AO=443;CIGAR=1X;DP=1028;DPB=1028;DPRA=0;EPP=6.58367;EPPR=7.13723;GTI=0;LEN=1;MEANALT=3;MQM=39.3002;MQMR=40.0436;NS=1;NUMALT=1;ODDS=1749.12;PAIRED=0.986456;PAIREDR=0.970332;PAO=0;PQA=0;PQR=0;PRO=0;QA=12545;QR=17771;RO=573;RPL=227;RPP=3.60341;RPPR=3.10504;RPR=216;RUN=1;SAF=199;SAP=12.9363;SAR=244;SRF=225;SRP=60.344;SRR=348;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;esp6500siv2_all=0.3098;esp6500siv2_ea=0.3110;esp6500siv2_all=0.3098;esp6500siv2_ea=0.3110;1000g2015aug_all=0.352636;avsnp147=rs2105702;Kaviar_AF=0.334142;Kaviar_AC=51659;Kaviar_AN=154602;ExAC_ALL=0.3443;ExAC_AFR=0.3197;ExAC_AMR=0.5077;ExAC_EAS=0.4055;ExAC_FIN=0.3695;ExAC_NFE=0.3036;ExAC_OTH=0.3226;ExAC_SAS=0.3688;CLNALLELEID=503660;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3496;gnomAD_exome_AFR=0.3158;gnomAD_exome_AMR=0.4993;gnomAD_exome_ASJ=0.2568;gnomAD_exome_EAS=0.4065;gnomAD_exome_FIN=0.3665;gnomAD_exome_NFE=0.3028;gnomAD_exome_OTH=0.3403;gnomAD_exome_SAS=0.3629;gnomAD_genome_ALL=0.3298;gnomAD_genome_AFR=0.3208;gnomAD_genome_AMR=0.4785;gnomAD_genome_ASJ=0.2252;gnomAD_genome_EAS=0.4109;gnomAD_genome_FIN=0.3633;gnomAD_genome_NFE=0.3127;gnomAD_genome_OTH=0.3231;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1028:573:17771:443:12545:-772.524,0,-1218.82 +chr10 68040325 . C T 8932.72 . AB=0.512911;ABP=4.24386;AC=1;AF=0.5;AN=2;AO=437;CIGAR=1X;DP=852;DPB=852;DPRA=0;EPP=49.764;EPPR=17.8377;GTI=0;LEN=1;MEANALT=3;MQM=40.5858;MQMR=40.2399;NS=1;NUMALT=1;ODDS=1825.16;PAIRED=0.981693;PAIREDR=0.972222;PAO=0;PQA=0;PQR=0;PRO=0;QA=13409;QR=12249;RO=396;RPL=180;RPP=32.4718;RPPR=6.71716;RPR=257;RUN=1;SAF=216;SAP=3.13453;SAR=221;SRF=213;SRP=7.94546;SRR=183;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon13:c.G1787A:p.S596N,CTNNA3:NM_013266:exon13:c.G1787A:p.S596N;cytoBand=10q21.3;esp6500siv2_all=0.4666;esp6500siv2_ea=0.3621;esp6500siv2_all=0.4666;esp6500siv2_ea=0.3621;1000g2015aug_all=0.485024;avsnp147=rs4548513;Kaviar_AF=0.404141;Kaviar_AC=62481;Kaviar_AN=154602;ExAC_ALL=0.4120;ExAC_AFR=0.6788;ExAC_AMR=0.4061;ExAC_EAS=0.4324;ExAC_FIN=0.4362;ExAC_NFE=0.3747;ExAC_OTH=0.3896;ExAC_SAS=0.3794;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.645;MutationAssessor_pred=N;FATHMM_score=1.27;FATHMM_pred=T;PROVEAN_score=2.04;PROVEAN_pred=N;VEST3_score=0.035;CADD_raw=0.202;CADD_phred=4.704;DANN_score=0.115;fathmm-MKL_coding_score=0.036;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.935;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=3.16;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=0.090;phastCons7way_vertebrate=0.200;phastCons20way_mammalian=0.295;SiPhy_29way_logOdds=7.512;hgmdPRO=id:CM074765#"Alzheimer_disease_increased_risk_association_with";gnomAD_exome_ALL=0.4038;gnomAD_exome_AFR=0.6798;gnomAD_exome_AMR=0.4078;gnomAD_exome_ASJ=0.3934;gnomAD_exome_EAS=0.4315;gnomAD_exome_FIN=0.4340;gnomAD_exome_NFE=0.3655;gnomAD_exome_OTH=0.3869;gnomAD_exome_SAS=0.3717;gnomAD_genome_ALL=0.4831;gnomAD_genome_AFR=0.6821;gnomAD_genome_AMR=0.4101;gnomAD_genome_ASJ=0.4139;gnomAD_genome_EAS=0.4588;gnomAD_genome_FIN=0.4406;gnomAD_genome_NFE=0.3892;gnomAD_genome_OTH=0.4191;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:852:396:12249:437:13409:-909.195,0,-803.19 +chr10 68280359 . A G 7860.35 . AB=0.435065;ABP=36.8514;AC=1;AF=0.5;AN=2;AO=402;CIGAR=1X;DP=924;DPB=924;DPRA=0;EPP=86.0664;EPPR=81.6884;GTI=0;LEN=1;MEANALT=3;MQM=40.3532;MQMR=39.8171;NS=1;NUMALT=1;ODDS=1809.91;PAIRED=0.982587;PAIREDR=0.970179;PAO=0;PQA=0;PQR=0;PRO=0;QA=12532;QR=15584;RO=503;RPL=154;RPP=50.7395;RPPR=58.1346;RPR=248;RUN=1;SAF=229;SAP=19.9499;SAR=173;SRF=277;SRP=14.2389;SRR=226;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;esp6500siv2_all=0.0431;esp6500siv2_ea=.;esp6500siv2_all=0.0431;esp6500siv2_ea=.;1000g2015aug_all=0.0401358;avsnp147=rs78806593;Kaviar_AF=0.0111706;Kaviar_AC=1727;Kaviar_AN=154602;ExAC_ALL=0.0118;ExAC_AFR=0.1282;ExAC_AMR=0.0060;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0002;ExAC_OTH=0.0034;ExAC_SAS=0.0004;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0090;gnomAD_exome_AFR=0.1296;gnomAD_exome_AMR=0.0059;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0002;gnomAD_exome_OTH=0.0045;gnomAD_exome_SAS=0.0004;gnomAD_genome_ALL=0.0360;gnomAD_genome_AFR=0.1259;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0005;gnomAD_genome_OTH=0.0021;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:924:503:15584:402:12532:-811.184,0,-1059.72 +chr10 69366602 . T C 21931.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=924;CIGAR=1X;DP=957;DPB=957;DPRA=0;EPP=149.89;EPPR=3.15506;GTI=0;LEN=1;MEANALT=3;MQM=39.5812;MQMR=36;NS=1;NUMALT=1;ODDS=1161.34;PAIRED=0.978355;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=27904;QR=426;RO=15;RPL=228;RPP=517.734;RPPR=4.31318;RPR=696;RUN=1;SAF=767;SAP=877.474;SAR=157;SRF=13;SRP=20.5268;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;esp6500siv2_all=0.4562;esp6500siv2_ea=0.2893;esp6500siv2_all=0.4562;esp6500siv2_ea=0.2893;1000g2015aug_all=0.529952;avsnp147=rs3750863;Kaviar_AF=0.367052;Kaviar_AC=56747;Kaviar_AN=154602;ExAC_ALL=0.3811;ExAC_AFR=0.8004;ExAC_AMR=0.3845;ExAC_EAS=0.5341;ExAC_FIN=0.3173;ExAC_NFE=0.2901;ExAC_OTH=0.3770;ExAC_SAS=0.4284;CLNALLELEID=502840;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3675;gnomAD_exome_AFR=0.8098;gnomAD_exome_AMR=0.3761;gnomAD_exome_ASJ=0.2579;gnomAD_exome_EAS=0.5383;gnomAD_exome_FIN=0.3104;gnomAD_exome_NFE=0.2871;gnomAD_exome_OTH=0.3319;gnomAD_exome_SAS=0.4134;gnomAD_genome_ALL=0.4539;gnomAD_genome_AFR=0.8097;gnomAD_genome_AMR=0.3616;gnomAD_genome_ASJ=0.2633;gnomAD_genome_EAS=0.5074;gnomAD_genome_FIN=0.3096;gnomAD_genome_NFE=0.2905;gnomAD_genome_OTH=0.3507;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:957:15:426:924:27904:-2357.76,-248.102,0 +chr10 69905300 . G A 8183.14 . AB=0.472028;ABP=8.84139;AC=1;AF=0.5;AN=2;AO=405;CIGAR=1X;DP=858;DPB=858;DPRA=0;EPP=4.94586;EPPR=37.5191;GTI=0;LEN=1;MEANALT=3;MQM=39.2543;MQMR=39.3964;NS=1;NUMALT=1;ODDS=1884.24;PAIRED=0.990123;PAIREDR=0.975225;PAO=0;PQA=0;PQR=0;PRO=0;QA=12764;QR=14239;RO=444;RPL=213;RPP=5.37479;RPPR=20.6168;RPR=192;RUN=1;SAF=161;SAP=39.9468;SAR=244;SRF=140;SRP=134.551;SRR=304;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;esp6500siv2_all=0.2676;esp6500siv2_ea=0.0807;esp6500siv2_all=0.2676;esp6500siv2_ea=0.0807;1000g2015aug_all=0.295927;avsnp147=rs2817760;Kaviar_AF=0.150645;Kaviar_AC=23290;Kaviar_AN=154602;ExAC_ALL=0.1562;ExAC_AFR=0.6455;ExAC_AMR=0.1986;ExAC_EAS=0.1788;ExAC_FIN=0.1095;ExAC_NFE=0.0783;ExAC_OTH=0.1355;ExAC_SAS=0.1418;CLNALLELEID=142117;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1499;gnomAD_exome_AFR=0.6593;gnomAD_exome_AMR=0.1909;gnomAD_exome_ASJ=0.0985;gnomAD_exome_EAS=0.1781;gnomAD_exome_FIN=0.1133;gnomAD_exome_NFE=0.0778;gnomAD_exome_OTH=0.1343;gnomAD_exome_SAS=0.1431;gnomAD_genome_ALL=0.2496;gnomAD_genome_AFR=0.6422;gnomAD_genome_AMR=0.1730;gnomAD_genome_ASJ=0.1490;gnomAD_genome_EAS=0.1723;gnomAD_genome_FIN=0.1189;gnomAD_genome_NFE=0.0747;gnomAD_genome_OTH=0.1296;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:858:444:14239:405:12764:-830.611,0,-950.827 +chr10 69909899 . G A 15729.1 . AB=0.494051;ABP=3.50116;AC=1;AF=0.5;AN=2;AO=789;CIGAR=1X;DP=1597;DPB=1597;DPRA=0;EPP=402.52;EPPR=210.931;GTI=0;LEN=1;MEANALT=3;MQM=39.9797;MQMR=40.515;NS=1;NUMALT=1;ODDS=3448.86;PAIRED=0.982256;PAIREDR=0.972621;PAO=0;PQA=0;PQR=0;PRO=0;QA=24469;QR=23288;RO=767;RPL=357;RPP=18.4913;RPPR=7.76942;RPR=432;RUN=1;SAF=275;SAP=160.218;SAR=514;SRF=262;SRP=170.185;SRR=505;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;esp6500siv2_all=0.1761;esp6500siv2_ea=0.0826;esp6500siv2_all=0.1761;esp6500siv2_ea=0.0826;1000g2015aug_all=0.14996;avsnp147=rs7096613;Kaviar_AF=0.100943;Kaviar_AC=15606;Kaviar_AN=154602;ExAC_ALL=0.1043;ExAC_AFR=0.3556;ExAC_AMR=0.0608;ExAC_EAS=0.0071;ExAC_FIN=0.0506;ExAC_NFE=0.0893;ExAC_OTH=0.1087;ExAC_SAS=0.1075;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0957;gnomAD_exome_AFR=0.3614;gnomAD_exome_AMR=0.0576;gnomAD_exome_ASJ=0.1291;gnomAD_exome_EAS=0.0075;gnomAD_exome_FIN=0.0579;gnomAD_exome_NFE=0.0860;gnomAD_exome_OTH=0.0972;gnomAD_exome_SAS=0.1060;gnomAD_genome_ALL=0.1494;gnomAD_genome_AFR=0.3480;gnomAD_genome_AMR=0.0680;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.0099;gnomAD_genome_FIN=0.0614;gnomAD_genome_NFE=0.0803;gnomAD_genome_OTH=0.0716;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1597:767:23288:789:24469:-1640.42,0,-1544.89 +chr10 69926097 . T C 6782.66 . AB=0.477398;ABP=7.03483;AC=1;AF=0.5;AN=2;AO=433;CIGAR=1X;DP=907;DPB=907;DPRA=0;EPP=8.47158;EPPR=34.5954;GTI=0;LEN=1;MEANALT=3;MQM=33.5312;MQMR=32.6477;NS=1;NUMALT=1;ODDS=1561.76;PAIRED=0.91455;PAIREDR=0.879545;PAO=0;PQA=0;PQR=0;PRO=0;QA=12312;QR=13002;RO=440;RPL=292;RPP=117.356;RPPR=64.917;RPR=141;RUN=1;SAF=241;SAP=15.0512;SAR=192;SRF=240;SRP=10.9066;SRR=200;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.T1647C:p.S549S,MYPN:NM_001256267:exon11:c.T1647C:p.S549S,MYPN:NM_001256268:exon14:c.T765C:p.S255S;cytoBand=10q21.3;esp6500siv2_all=0.5787;esp6500siv2_ea=0.6960;esp6500siv2_all=0.5787;esp6500siv2_ea=0.6960;1000g2015aug_all=0.482628;avsnp147=rs2673794;Kaviar_AF=0.621331;Kaviar_AC=96059;Kaviar_AN=154602;ExAC_ALL=0.6227;ExAC_AFR=0.3416;ExAC_AMR=0.6872;ExAC_EAS=0.2886;ExAC_FIN=0.7417;ExAC_NFE=0.6868;ExAC_OTH=0.6564;ExAC_SAS=0.6200;CLNALLELEID=40455;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6326;gnomAD_exome_AFR=0.3410;gnomAD_exome_AMR=0.6827;gnomAD_exome_ASJ=0.6361;gnomAD_exome_EAS=0.2873;gnomAD_exome_FIN=0.7398;gnomAD_exome_NFE=0.6904;gnomAD_exome_OTH=0.6410;gnomAD_exome_SAS=0.6264;gnomAD_genome_ALL=0.5867;gnomAD_genome_AFR=0.3464;gnomAD_genome_AMR=0.6480;gnomAD_genome_ASJ=0.6733;gnomAD_genome_EAS=0.2834;gnomAD_genome_FIN=0.7457;gnomAD_genome_NFE=0.7102;gnomAD_genome_OTH=0.6878;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:907:440:13002:433:12312:-699.496,0,-702.568 +chr10 69926334 . C G 4125.65 . AB=0.500824;ABP=3.01388;AC=1;AF=0.5;AN=2;AO=304;CIGAR=1X;DP=607;DPB=607;DPRA=0;EPP=42.1254;EPPR=33.9012;GTI=0;LEN=1;MEANALT=3;MQM=31.1645;MQMR=31.0538;NS=1;NUMALT=1;ODDS=932.1;PAIRED=0.888158;PAIREDR=0.90681;PAO=0;PQA=0;PQR=0;PRO=0;QA=8219;QR=8426;RO=279;RPL=196;RPP=58.3257;RPPR=37.9484;RPR=108;RUN=1;SAF=157;SAP=3.7246;SAR=147;SRF=137;SRP=3.20488;SRR=142;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon10:c.C1884G:p.F628L,MYPN:NM_001256267:exon11:c.C1884G:p.F628L,MYPN:NM_001256268:exon14:c.C1002G:p.F334L;cytoBand=10q21.3;esp6500siv2_all=0.3960;esp6500siv2_ea=0.5095;esp6500siv2_all=0.3960;esp6500siv2_ea=0.5095;1000g2015aug_all=0.316494;avsnp147=rs10823148;Kaviar_AF=0.435596;Kaviar_AC=67344;Kaviar_AN=154602;ExAC_ALL=0.4383;ExAC_AFR=0.1622;ExAC_AMR=0.4237;ExAC_EAS=0.2010;ExAC_FIN=0.5534;ExAC_NFE=0.5038;ExAC_OTH=0.4623;ExAC_SAS=0.4339;CLNALLELEID=40464;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.635;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.009;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.121;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=0.57;FATHMM_pred=T;PROVEAN_score=-0.33;PROVEAN_pred=N;VEST3_score=0.218;CADD_raw=0.756;CADD_phred=9.186;DANN_score=0.646;fathmm-MKL_coding_score=0.861;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.929;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=4.3;phyloP7way_vertebrate=-0.058;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.079;phastCons20way_mammalian=0.595;SiPhy_29way_logOdds=7.614;hgmdPRO=.;gnomAD_exome_ALL=0.4418;gnomAD_exome_AFR=0.1565;gnomAD_exome_AMR=0.4300;gnomAD_exome_ASJ=0.3260;gnomAD_exome_EAS=0.1949;gnomAD_exome_FIN=0.5430;gnomAD_exome_NFE=0.5137;gnomAD_exome_OTH=0.4498;gnomAD_exome_SAS=0.4363;gnomAD_genome_ALL=0.4048;gnomAD_genome_AFR=0.1619;gnomAD_genome_AMR=0.4199;gnomAD_genome_ASJ=0.3444;gnomAD_genome_EAS=0.1897;gnomAD_genome_FIN=0.5426;gnomAD_genome_NFE=0.5306;gnomAD_genome_OTH=0.5122;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:607:279:8426:304:8219:-429.9,0,-419.122 +chr10 69933921 . G A 11988.9 . AB=0.528652;ABP=11.8452;AC=1;AF=0.5;AN=2;AO=655;CIGAR=1X;DP=1239;DPB=1239;DPRA=0;EPP=68.9203;EPPR=49.0455;GTI=0;LEN=1;MEANALT=3;MQM=37.3435;MQMR=38.4906;NS=1;NUMALT=1;ODDS=2206.58;PAIRED=0.964885;PAIREDR=0.964151;PAO=0;PQA=0;PQR=0;PRO=0;QA=18906;QR=16016;RO=530;RPL=370;RPP=26.9628;RPPR=39.2124;RPR=285;RUN=1;SAF=349;SAP=9.14015;SAR=306;SRF=276;SRP=4.9933;SRR=254;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2072A:p.S691N,MYPN:NM_001256267:exon12:c.G2072A:p.S691N,MYPN:NM_001256268:exon15:c.G1190A:p.S397N;cytoBand=10q21.3;esp6500siv2_all=0.3924;esp6500siv2_ea=0.48;esp6500siv2_all=0.3924;esp6500siv2_ea=0.48;1000g2015aug_all=0.335863;avsnp147=rs10997975;Kaviar_AF=0.431191;Kaviar_AC=66663;Kaviar_AN=154602;ExAC_ALL=0.4308;ExAC_AFR=0.2092;ExAC_AMR=0.4167;ExAC_EAS=0.2586;ExAC_FIN=0.5402;ExAC_NFE=0.4801;ExAC_OTH=0.4559;ExAC_SAS=0.4256;CLNALLELEID=40457;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.063;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.15;MutationAssessor_pred=N;FATHMM_score=0.42;FATHMM_pred=T;PROVEAN_score=0.46;PROVEAN_pred=N;VEST3_score=0.013;CADD_raw=0.657;CADD_phred=8.543;DANN_score=0.184;fathmm-MKL_coding_score=0.061;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.916;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.487;integrated_confidence_value=0;GERP++_RS=3.21;phyloP7way_vertebrate=0.125;phyloP20way_mammalian=0.168;phastCons7way_vertebrate=0.246;phastCons20way_mammalian=0.994;SiPhy_29way_logOdds=8.094;hgmdPRO=.;gnomAD_exome_ALL=0.4329;gnomAD_exome_AFR=0.2047;gnomAD_exome_AMR=0.4185;gnomAD_exome_ASJ=0.3266;gnomAD_exome_EAS=0.2489;gnomAD_exome_FIN=0.5289;gnomAD_exome_NFE=0.4878;gnomAD_exome_OTH=0.4404;gnomAD_exome_SAS=0.4292;gnomAD_genome_ALL=0.4043;gnomAD_genome_AFR=0.2092;gnomAD_genome_AMR=0.4183;gnomAD_genome_ASJ=0.3444;gnomAD_genome_EAS=0.2320;gnomAD_genome_FIN=0.5284;gnomAD_genome_NFE=0.5016;gnomAD_genome_OTH=0.5021;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1239:530:16016:655:18906:-1219.55,0,-977.644 +chr10 69933969 . G A 11863.6 . AB=0.501881;ABP=3.05115;AC=1;AF=0.5;AN=2;AO=667;CIGAR=1X;DP=1329;DPB=1329;DPRA=0;EPP=8.48293;EPPR=12.1053;GTI=0;LEN=1;MEANALT=3;MQM=36.7436;MQMR=37.2013;NS=1;NUMALT=1;ODDS=2486.89;PAIRED=0.949025;PAIREDR=0.935588;PAO=0;PQA=0;PQR=0;PRO=0;QA=19226;QR=18228;RO=621;RPL=368;RPP=18.5101;RPPR=19.6583;RPR=299;RUN=1;SAF=285;SAP=33.6421;SAR=382;SRF=251;SRP=52.5276;SRR=370;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.G2120A:p.S707N,MYPN:NM_001256267:exon12:c.G2120A:p.S707N,MYPN:NM_001256268:exon15:c.G1238A:p.S413N;cytoBand=10q21.3;esp6500siv2_all=0.3924;esp6500siv2_ea=0.4798;esp6500siv2_all=0.3924;esp6500siv2_ea=0.4798;1000g2015aug_all=0.32508;avsnp147=rs7916821;Kaviar_AF=0.422659;Kaviar_AC=65344;Kaviar_AN=154602;ExAC_ALL=0.4258;ExAC_AFR=0.2092;ExAC_AMR=0.4141;ExAC_EAS=0.2041;ExAC_FIN=0.5380;ExAC_NFE=0.4795;ExAC_OTH=0.4515;ExAC_SAS=0.4236;CLNALLELEID=40458;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.271;SIFT_pred=T;Polyphen2_HDIV_score=0.091;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.068;Polyphen2_HVAR_pred=B;LRT_score=0.088;LRT_pred=N;MutationTaster_score=0.978;MutationTaster_pred=P;MutationAssessor_score=1.1;MutationAssessor_pred=L;FATHMM_score=0.44;FATHMM_pred=T;PROVEAN_score=-0.25;PROVEAN_pred=N;VEST3_score=0.104;CADD_raw=1.882;CADD_phred=15.48;DANN_score=0.987;fathmm-MKL_coding_score=0.397;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.933;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=4.68;phyloP7way_vertebrate=0.630;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.517;phastCons20way_mammalian=0.852;SiPhy_29way_logOdds=8.752;hgmdPRO=.;gnomAD_exome_ALL=0.4283;gnomAD_exome_AFR=0.2043;gnomAD_exome_AMR=0.4160;gnomAD_exome_ASJ=0.3266;gnomAD_exome_EAS=0.1982;gnomAD_exome_FIN=0.5270;gnomAD_exome_NFE=0.4873;gnomAD_exome_OTH=0.4364;gnomAD_exome_SAS=0.4273;gnomAD_genome_ALL=0.4011;gnomAD_genome_AFR=0.2082;gnomAD_genome_AMR=0.4099;gnomAD_genome_ASJ=0.3444;gnomAD_genome_EAS=0.1923;gnomAD_genome_FIN=0.5266;gnomAD_genome_NFE=0.5011;gnomAD_genome_OTH=0.4969;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1329:621:18228:667:19226:-1200.07,0,-1096.08 +chr10 69934258 . C G 6058.61 . AB=0.455943;ABP=19.4654;AC=1;AF=0.5;AN=2;AO=445;CIGAR=1X;DP=976;DPB=976;DPRA=0;EPP=63.1332;EPPR=133.93;GTI=0;LEN=1;MEANALT=3;MQM=35.4404;MQMR=34.6474;NS=1;NUMALT=1;ODDS=1395.05;PAIRED=0.964045;PAIREDR=0.946392;PAO=0;PQA=0;PQR=0;PRO=0;QA=10947;QR=13406;RO=485;RPL=235;RPP=6.06012;RPPR=10.5366;RPR=210;RUN=1;SAF=218;SAP=3.40556;SAR=227;SRF=218;SRP=13.7602;SRR=267;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon11:c.C2409G:p.S803R,MYPN:NM_001256267:exon12:c.C2409G:p.S803R,MYPN:NM_001256268:exon15:c.C1527G:p.S509R;cytoBand=10q21.3;esp6500siv2_all=0.5230;esp6500siv2_ea=0.5509;esp6500siv2_all=0.5230;esp6500siv2_ea=0.5509;1000g2015aug_all=0.471446;avsnp147=rs3814182;Kaviar_AF=0.512788;Kaviar_AC=79278;Kaviar_AN=154602;ExAC_ALL=0.5205;ExAC_AFR=0.4598;ExAC_AMR=0.4522;ExAC_EAS=0.3647;ExAC_FIN=0.6409;ExAC_NFE=0.5520;ExAC_OTH=0.5363;ExAC_SAS=0.5113;CLNALLELEID=40468;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.02;SIFT_pred=D;Polyphen2_HDIV_score=0.879;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.417;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_pred=D;MutationTaster_score=0.951;MutationTaster_pred=P;MutationAssessor_score=1.445;MutationAssessor_pred=L;FATHMM_score=0.38;FATHMM_pred=T;PROVEAN_score=-0.42;PROVEAN_pred=N;VEST3_score=0.386;CADD_raw=2.029;CADD_phred=16.40;DANN_score=0.968;fathmm-MKL_coding_score=0.217;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.073;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=-9.63;phyloP7way_vertebrate=-0.760;phyloP20way_mammalian=-0.330;phastCons7way_vertebrate=0.573;phastCons20way_mammalian=0.913;SiPhy_29way_logOdds=19.595;hgmdPRO=.;gnomAD_exome_ALL=0.5203;gnomAD_exome_AFR=0.4602;gnomAD_exome_AMR=0.4632;gnomAD_exome_ASJ=0.4294;gnomAD_exome_EAS=0.3663;gnomAD_exome_FIN=0.6304;gnomAD_exome_NFE=0.5577;gnomAD_exome_OTH=0.5190;gnomAD_exome_SAS=0.5127;gnomAD_genome_ALL=0.5276;gnomAD_genome_AFR=0.4519;gnomAD_genome_AMR=0.4483;gnomAD_genome_ASJ=0.4669;gnomAD_genome_EAS=0.3781;gnomAD_genome_FIN=0.6211;gnomAD_genome_NFE=0.5682;gnomAD_genome_OTH=0.5760;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:976:485:13406:445:10947:-620.49,0,-785.378 +chr10 69935235 . T C 10575.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=471;CIGAR=1X;DP=483;DPB=483;DPRA=0;EPP=20.1654;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=38.3631;MQMR=40;NS=1;NUMALT=1;ODDS=651.957;PAIRED=0.989384;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=13495;QR=14;RO=1;RPL=242;RPP=3.78945;RPPR=5.18177;RPR=229;RUN=1;SAF=43;SAP=686.379;SAR=428;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;esp6500siv2_all=0.9822;esp6500siv2_ea=0.9990;esp6500siv2_all=0.9822;esp6500siv2_ea=0.9990;1000g2015aug_all=0.982428;avsnp147=rs6480306;Kaviar_AF=0.951864;Kaviar_AC=147160;Kaviar_AN=154602;ExAC_ALL=0.9938;ExAC_AFR=0.9403;ExAC_AMR=0.9973;ExAC_EAS=0.9999;ExAC_FIN=1;ExAC_NFE=0.9996;ExAC_OTH=0.9967;ExAC_SAS=0.9962;CLNALLELEID=142122;CLNDN=Dilated_cardiomyopathy_1KK|not_specified;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9949;gnomAD_exome_AFR=0.9376;gnomAD_exome_AMR=0.9973;gnomAD_exome_ASJ=0.9952;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9997;gnomAD_exome_OTH=0.9960;gnomAD_exome_SAS=0.9961;gnomAD_genome_ALL=0.9818;gnomAD_genome_AFR=0.9367;gnomAD_genome_AMR=0.9964;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9997;gnomAD_genome_OTH=0.9959;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:483:1:14:471:13495:-1141.84,-140.826,0 +chr10 69959242 . C A 23800.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1097;CIGAR=1X;DP=1157;DPB=1157;DPRA=0;EPP=44.6285;EPPR=38.1882;GTI=0;LEN=1;MEANALT=3;MQM=33.4977;MQMR=31.7778;NS=1;NUMALT=1;ODDS=1283.28;PAIRED=0.919781;PAIREDR=0.866667;PAO=0;PQA=0;PQR=0;PRO=0;QA=31813;QR=888;RO=45;RPL=636;RPP=63.6314;RPPR=43.5927;RPR=461;RUN=1;SAF=465;SAP=58.2156;SAR=632;SRF=40;SRP=62.1226;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon17:c.C3403A:p.P1135T,MYPN:NM_001256267:exon18:c.C3403A:p.P1135T,MYPN:NM_001256268:exon21:c.C2521A:p.P841T;cytoBand=10q21.3;esp6500siv2_all=0.4059;esp6500siv2_ea=0.4786;esp6500siv2_all=0.4059;esp6500siv2_ea=0.4786;1000g2015aug_all=0.340256;avsnp147=rs7079481;Kaviar_AF=0.432582;Kaviar_AC=66878;Kaviar_AN=154602;ExAC_ALL=0.4323;ExAC_AFR=0.2533;ExAC_AMR=0.4148;ExAC_EAS=0.2251;ExAC_FIN=0.5374;ExAC_NFE=0.4806;ExAC_OTH=0.4581;ExAC_SAS=0.4268;CLNALLELEID=40460;CLNDN=Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.01;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=1.0;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=1.06;MutationAssessor_pred=L;FATHMM_score=-0.65;FATHMM_pred=T;PROVEAN_score=-4.63;PROVEAN_pred=D;VEST3_score=0.56;CADD_raw=6.536;CADD_phred=31;DANN_score=0.998;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.935;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.38;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.935;phastCons7way_vertebrate=0.983;phastCons20way_mammalian=0.869;SiPhy_29way_logOdds=19.331;hgmdPRO=.;gnomAD_exome_ALL=0.4337;gnomAD_exome_AFR=0.2546;gnomAD_exome_AMR=0.4170;gnomAD_exome_ASJ=0.3310;gnomAD_exome_EAS=0.2184;gnomAD_exome_FIN=0.5262;gnomAD_exome_NFE=0.4879;gnomAD_exome_OTH=0.4327;gnomAD_exome_SAS=0.4309;gnomAD_genome_ALL=0.4160;gnomAD_genome_AFR=0.2562;gnomAD_genome_AMR=0.4165;gnomAD_genome_ASJ=0.3433;gnomAD_genome_EAS=0.2112;gnomAD_genome_FIN=0.5249;gnomAD_genome_NFE=0.5020;gnomAD_genome_OTH=0.4928;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=1 GT:DP:RO:QR:AO:QA:GL 1/1:1157:45:888:1097:31813:-2383.44,-275.408,0 +chr10 69959345 . GCTGGGAC GC 9696.64 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=757;CIGAR=1M6D1M;DP=817;DPB=226;DPRA=0;EPP=545.807;EPPR=3.44459;GTI=0;LEN=6;MEANALT=21;MQM=24.893;MQMR=40.8;NS=1;NUMALT=1;ODDS=1035.99;PAIRED=0.970938;PAIREDR=1;PAO=9.5;PQA=306;PQR=306;PRO=9.5;QA=14189;QR=132;RO=5;RPL=519;RPP=229.512;RPPR=6.91895;RPR=238;RUN=1;SAF=392;SAP=5.10145;SAR=365;SRF=2;SRP=3.44459;SRR=3;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q21.3;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 1/1:817:5:132:757:14189:-1053.5,-229.048,0 +chr10 75865065 . G A 8919.31 . AB=0.496682;ABP=3.11116;AC=1;AF=0.5;AN=2;AO=524;CIGAR=1X;DP=1055;DPB=1055;DPRA=0;EPP=4.66791;EPPR=43.1157;GTI=0;LEN=1;MEANALT=3;MQM=37.1355;MQMR=38.6577;NS=1;NUMALT=1;ODDS=2053.75;PAIRED=0.979008;PAIREDR=0.959615;PAO=0;PQA=0;PQR=0;PRO=0;QA=14958;QR=15788;RO=520;RPL=334;RPP=88.9409;RPPR=96.9682;RPR=190;RUN=1;SAF=154;SAP=196.354;SAR=370;SRF=168;SRP=144.39;SRR=352;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_003373:exon16:c.G2388A:p.P796P,VCL:NM_014000:exon16:c.G2388A:p.P796P;cytoBand=10q22.2;esp6500siv2_all=0.4387;esp6500siv2_ea=0.5895;esp6500siv2_all=0.4387;esp6500siv2_ea=0.5895;1000g2015aug_all=0.324681;avsnp147=rs767809;Kaviar_AF=0.479573;Kaviar_AC=74143;Kaviar_AN=154602;ExAC_ALL=0.4761;ExAC_AFR=0.1261;ExAC_AMR=0.3736;ExAC_EAS=0.2618;ExAC_FIN=0.5442;ExAC_NFE=0.5852;ExAC_OTH=0.5310;ExAC_SAS=0.4094;CLNALLELEID=54761;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4821;gnomAD_exome_AFR=0.1210;gnomAD_exome_AMR=0.3950;gnomAD_exome_ASJ=0.6871;gnomAD_exome_EAS=0.2550;gnomAD_exome_FIN=0.5476;gnomAD_exome_NFE=0.5798;gnomAD_exome_OTH=0.5250;gnomAD_exome_SAS=0.4094;gnomAD_genome_ALL=0.4299;gnomAD_genome_AFR=0.1369;gnomAD_genome_AMR=0.4511;gnomAD_genome_ASJ=0.6967;gnomAD_genome_EAS=0.2801;gnomAD_genome_FIN=0.5312;gnomAD_genome_NFE=0.5824;gnomAD_genome_OTH=0.4878;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1055:520:15788:524:14958:-928.651,0,-1023.51 +chr10 75871735 . C G 15004.8 . AB=0.510345;ABP=4.62767;AC=1;AF=0.5;AN=2;AO=888;CIGAR=1X;DP=1740;DPB=1740;DPRA=0;EPP=34.7901;EPPR=31.9589;GTI=0;LEN=1;MEANALT=3;MQM=35.6261;MQMR=37.0834;NS=1;NUMALT=1;ODDS=3454.98;PAIRED=0.925676;PAIREDR=0.927449;PAO=0;PQA=0;PQR=0;PRO=0;QA=25438;QR=25648;RO=827;RPL=290;RPP=234.986;RPPR=187.402;RPR=598;RUN=1;SAF=547;SAP=106.781;SAR=341;SRF=512;SRP=104.912;SRR=315;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=VCL:NM_014000:exon19:c.C2814G:p.G938G;cytoBand=10q22.2;esp6500siv2_all=0.7624;esp6500siv2_ea=0.7521;esp6500siv2_all=0.7624;esp6500siv2_ea=0.7521;1000g2015aug_all=0.623003;avsnp147=rs2131956;Kaviar_AF=0.656072;Kaviar_AC=101430;Kaviar_AN=154602;ExAC_ALL=0.6734;ExAC_AFR=0.7837;ExAC_AMR=0.5684;ExAC_EAS=0.3769;ExAC_FIN=0.6739;ExAC_NFE=0.7428;ExAC_OTH=0.7037;ExAC_SAS=0.5490;CLNALLELEID=54766;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6698;gnomAD_exome_AFR=0.7803;gnomAD_exome_AMR=0.5817;gnomAD_exome_ASJ=0.8593;gnomAD_exome_EAS=0.3696;gnomAD_exome_FIN=0.6733;gnomAD_exome_NFE=0.7412;gnomAD_exome_OTH=0.7083;gnomAD_exome_SAS=0.5500;gnomAD_genome_ALL=0.7277;gnomAD_genome_AFR=0.7918;gnomAD_genome_AMR=0.6447;gnomAD_genome_ASJ=0.8676;gnomAD_genome_EAS=0.3861;gnomAD_genome_FIN=0.6712;gnomAD_genome_NFE=0.7447;gnomAD_genome_OTH=0.6857;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1740:827:25648:888:25438:-1546.68,0,-1578.81 +chr10 88445385 . G C 10973.1 . AB=0.47931;ABP=8.40154;AC=1;AF=0.5;AN=2;AO=695;CIGAR=1X;DP=1450;DPB=1450;DPRA=0;EPP=86.023;EPPR=51.5868;GTI=0;LEN=1;MEANALT=3;MQM=34.6259;MQMR=35.9417;NS=1;NUMALT=1;ODDS=2526.64;PAIRED=0.915108;PAIREDR=0.884882;PAO=0;PQA=0;PQR=0;PRO=0;QA=19473;QR=21983;RO=721;RPL=260;RPP=98.6957;RPPR=129.579;RPR=435;RUN=1;SAF=400;SAP=37.457;SAR=295;SRF=421;SRP=47.1053;SRR=300;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.2;esp6500siv2_all=0.7102;esp6500siv2_ea=0.7528;esp6500siv2_all=0.7102;esp6500siv2_ea=0.7528;1000g2015aug_all=0.624201;avsnp147=rs3740345;Kaviar_AF=0.0040297;Kaviar_AC=623;Kaviar_AN=154602;ExAC_ALL=0.6875;ExAC_AFR=0.5941;ExAC_AMR=0.4747;ExAC_EAS=0.4540;ExAC_FIN=0.6472;ExAC_NFE=0.7452;ExAC_OTH=0.6944;ExAC_SAS=0.7966;CLNALLELEID=253888;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6758;gnomAD_exome_AFR=0.5900;gnomAD_exome_AMR=0.4848;gnomAD_exome_ASJ=0.7475;gnomAD_exome_EAS=0.4577;gnomAD_exome_FIN=0.6465;gnomAD_exome_NFE=0.7447;gnomAD_exome_OTH=0.6842;gnomAD_exome_SAS=0.7961;gnomAD_genome_ALL=0.6677;gnomAD_genome_AFR=0.5862;gnomAD_genome_AMR=0.5370;gnomAD_genome_ASJ=0.7417;gnomAD_genome_EAS=0.4597;gnomAD_genome_FIN=0.6506;gnomAD_genome_NFE=0.7454;gnomAD_genome_OTH=0.6984;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1450:721:21983:695:19473:-1127.12,0,-1345.57 +chr10 88458996 . TTCTCTCTCTCTCTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCTCTCTCTCTCT 233.894 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=175;CIGAR=1M4D25M;DP=660;DPB=741.9;DPRA=0;EPP=18.2106;EPPR=7.13366;GTI=0;LEN=4;MEANALT=213;MQM=28.1086;MQMR=35.4494;NS=1;NUMALT=1;ODDS=53.8561;PAIRED=0.92;PAIREDR=0.977528;PAO=192.5;PQA=6012.5;PQR=6292.5;PRO=201.5;QA=3348;QR=2805;RO=89;RPL=69;RPP=19.9974;RPPR=8.49998;RPR=106;RUN=1;SAF=144;SAP=161.453;SAR=31;SRF=72;SRP=76.816;SRR=17;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.2;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 1/1:660:89:2805:175:3348:-35.3271,-68.1699,0 +chr10 92678740 . AATAAATAAATATATATATA AA 5247.88 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=518;CIGAR=1M18D1M;DP=770;DPB=323;DPRA=0;EPP=5.42491;EPPR=7.35324;GTI=0;LEN=18;MEANALT=61;MQM=17.9691;MQMR=42;NS=1;NUMALT=1;ODDS=671.73;PAIRED=1;PAIREDR=1;PAO=12;PQA=320;PQR=692;PRO=24;QA=10272;QR=65;RO=2;RPL=230;RPP=17.1123;RPPR=7.35324;RPR=288;RUN=1;SAF=83;SAP=522.42;SAR=435;SRF=0;SRP=7.35324;SRR=2;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 1/1:770:2:65:518:10272:-585.802,-136.517,0 +chr10 92678765 . A G 7749.37 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=556;CIGAR=1X;DP=581;DPB=581;DPRA=0;EPP=262.978;EPPR=14.7363;GTI=0;LEN=1;MEANALT=3;MQM=19.1043;MQMR=20.6;NS=1;NUMALT=1;ODDS=687.491;PAIRED=1;PAIREDR=0.933333;PAO=0;PQA=0;PQR=0;PRO=0;QA=17927;QR=474;RO=15;RPL=366;RPP=123.988;RPPR=27.4756;RPR=190;RUN=1;SAF=111;SAP=438.695;SAR=445;SRF=2;SRP=20.5268;SRR=13;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q23.31;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.441094;avsnp147=rs56177217;Kaviar_AF=0.428274;Kaviar_AC=66212;Kaviar_AN=154602;ExAC_ALL=0.6476;ExAC_AFR=0.4909;ExAC_AMR=0.7010;ExAC_EAS=0.6559;ExAC_FIN=0.6581;ExAC_NFE=0.6758;ExAC_OTH=0.6380;ExAC_SAS=0.5534;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6224;gnomAD_exome_AFR=0.3890;gnomAD_exome_AMR=0.6603;gnomAD_exome_ASJ=0.5918;gnomAD_exome_EAS=0.5396;gnomAD_exome_FIN=0.6281;gnomAD_exome_NFE=0.6641;gnomAD_exome_OTH=0.6230;gnomAD_exome_SAS=0.5666;gnomAD_genome_ALL=0.4635;gnomAD_genome_AFR=0.2469;gnomAD_genome_AMR=0.6437;gnomAD_genome_ASJ=0.5070;gnomAD_genome_EAS=0.3354;gnomAD_genome_FIN=0.6583;gnomAD_genome_NFE=0.5462;gnomAD_genome_OTH=0.5168;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:581:15:474:556:17927:-857.477,-146.147,0 +chr10 101473218 . A G 15768.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=664;CIGAR=1X;DP=697;DPB=697;DPRA=0;EPP=185.152;EPPR=16.0391;GTI=0;LEN=1;MEANALT=3;MQM=39.9036;MQMR=35.1667;NS=1;NUMALT=1;ODDS=883.643;PAIRED=0.983434;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=18986;QR=128;RO=6;RPL=181;RPP=301.274;RPPR=3.0103;RPR=483;RUN=1;SAF=343;SAP=4.59312;SAR=321;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=COX15;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=COX15:NM_004376:exon9:c.T1120C:p.F374L;cytoBand=10q24.2;esp6500siv2_all=0.8348;esp6500siv2_ea=0.8733;esp6500siv2_all=0.8348;esp6500siv2_ea=0.8733;1000g2015aug_all=0.827077;avsnp147=rs2231687;Kaviar_AF=0.843488;Kaviar_AC=130405;Kaviar_AN=154602;ExAC_ALL=0.8610;ExAC_AFR=0.7618;ExAC_AMR=0.8993;ExAC_EAS=0.7743;ExAC_FIN=0.8872;ExAC_NFE=0.8737;ExAC_OTH=0.8717;ExAC_SAS=0.8797;CLNALLELEID=134284;CLNDN=Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency|not_specified;CLNDISDB=MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED_CT:67434000|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=0.62;PROVEAN_pred=N;VEST3_score=0.013;CADD_raw=0.914;CADD_phred=10.16;DANN_score=0.868;fathmm-MKL_coding_score=0.029;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.050;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=0.947;phyloP7way_vertebrate=0.423;phyloP20way_mammalian=0.854;phastCons7way_vertebrate=0.391;phastCons20way_mammalian=0.252;SiPhy_29way_logOdds=3.913;hgmdPRO=.;gnomAD_exome_ALL=0.8646;gnomAD_exome_AFR=0.7603;gnomAD_exome_AMR=0.8989;gnomAD_exome_ASJ=0.8367;gnomAD_exome_EAS=0.7760;gnomAD_exome_FIN=0.8888;gnomAD_exome_NFE=0.8763;gnomAD_exome_OTH=0.8701;gnomAD_exome_SAS=0.8776;gnomAD_genome_ALL=0.8426;gnomAD_genome_AFR=0.7607;gnomAD_genome_AMR=0.8849;gnomAD_genome_ASJ=0.8278;gnomAD_genome_EAS=0.7862;gnomAD_genome_FIN=0.8857;gnomAD_genome_NFE=0.8814;gnomAD_genome_OTH=0.8834;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:697:6:128:664:18986:-1628.2,-191.344,0 +chr10 112543217 . G A 42239.2 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1688;CIGAR=1X;DP=1718;DPB=1718;DPRA=0;EPP=92.6684;EPPR=8.80089;GTI=0;LEN=1;MEANALT=3;MQM=38.3217;MQMR=38.5;NS=1;NUMALT=1;ODDS=2295.6;PAIRED=0.94609;PAIREDR=0.833333;PAO=0;PQA=0;PQR=0;PRO=0;QA=51623;QR=119;RO=6;RPL=1181;RPP=587.399;RPPR=4.45795;RPR=507;RUN=1;SAF=675;SAP=149.976;SAR=1013;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;esp6500siv2_all=0.7278;esp6500siv2_ea=0.7879;esp6500siv2_all=0.7278;esp6500siv2_ea=0.7879;1000g2015aug_all=0.788139;avsnp147=rs6585012;Kaviar_AF=0.263664;Kaviar_AC=40763;Kaviar_AN=154602;ExAC_ALL=0.8077;ExAC_AFR=0.6133;ExAC_AMR=0.8357;ExAC_EAS=0.9662;ExAC_FIN=0.8024;ExAC_NFE=0.7966;ExAC_OTH=0.8238;ExAC_SAS=0.8636;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.8183;gnomAD_exome_AFR=0.6245;gnomAD_exome_AMR=0.8343;gnomAD_exome_ASJ=0.7754;gnomAD_exome_EAS=0.9689;gnomAD_exome_FIN=0.8327;gnomAD_exome_NFE=0.7960;gnomAD_exome_OTH=0.7820;gnomAD_exome_SAS=0.8676;gnomAD_genome_ALL=0.7646;gnomAD_genome_AFR=0.6232;gnomAD_genome_AMR=0.8115;gnomAD_genome_ASJ=0.7682;gnomAD_genome_EAS=0.9654;gnomAD_genome_FIN=0.8266;gnomAD_genome_NFE=0.8062;gnomAD_genome_OTH=0.7898;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1718:6:119:1688:51623:-4310.74,-499.369,0 +chr10 112544063 . A C 26583.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1142;CIGAR=1X;DP=1190;DPB=1190;DPRA=0;EPP=73.1059;EPPR=24.725;GTI=0;LEN=1;MEANALT=3;MQM=38.021;MQMR=32.725;NS=1;NUMALT=1;ODDS=1350.45;PAIRED=0.967601;PAIREDR=0.95;PAO=0;PQA=0;PQR=0;PRO=0;QA=32313;QR=714;RO=40;RPL=574;RPP=3.07875;RPPR=8.43898;RPR=568;RUN=1;SAF=527;SAP=17.7352;SAR=615;SRF=17;SRP=4.96463;SRR=23;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;esp6500siv2_all=0.5315;esp6500siv2_ea=0.5698;esp6500siv2_all=0.5315;esp6500siv2_ea=0.5698;1000g2015aug_all=0.633986;avsnp147=rs7898438;Kaviar_AF=0.189073;Kaviar_AC=29231;Kaviar_AN=154602;ExAC_ALL=0.6534;ExAC_AFR=0.4381;ExAC_AMR=0.6746;ExAC_EAS=0.9003;ExAC_FIN=0.6875;ExAC_NFE=0.5824;ExAC_OTH=0.6613;ExAC_SAS=0.7632;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6405;gnomAD_exome_AFR=0.4339;gnomAD_exome_AMR=0.6756;gnomAD_exome_ASJ=0.5901;gnomAD_exome_EAS=0.8826;gnomAD_exome_FIN=0.6139;gnomAD_exome_NFE=0.5772;gnomAD_exome_OTH=0.5847;gnomAD_exome_SAS=0.7616;gnomAD_genome_ALL=0.5580;gnomAD_genome_AFR=0.4297;gnomAD_genome_AMR=0.6734;gnomAD_genome_ASJ=0.5861;gnomAD_genome_EAS=0.8634;gnomAD_genome_FIN=0.6037;gnomAD_genome_NFE=0.5783;gnomAD_genome_OTH=0.6145;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1190:40:714:1142:32313:-2666.12,-297.735,0 +chr10 112570243 . T C 9322.28 . AB=0.474062;ABP=10.3323;AC=1;AF=0.5;AN=2;AO=594;CIGAR=1X;DP=1253;DPB=1253;DPRA=0;EPP=15.308;EPPR=26.6365;GTI=0;LEN=1;MEANALT=3;MQM=34.0236;MQMR=36.6003;NS=1;NUMALT=1;ODDS=2146.53;PAIRED=0.905724;PAIREDR=0.928803;PAO=0;PQA=0;PQR=0;PRO=0;QA=16898;QR=18909;RO=618;RPL=367;RPP=74.6616;RPPR=55.3084;RPR=227;RUN=1;SAF=207;SAP=121.454;SAR=387;SRF=208;SRP=146.384;SRR=410;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;esp6500siv2_all=0.3035;esp6500siv2_ea=0.3755;esp6500siv2_all=0.3035;esp6500siv2_ea=0.3755;1000g2015aug_all=0.316494;avsnp147=rs11195338;Kaviar_AF=0.11276;Kaviar_AC=17433;Kaviar_AN=154602;ExAC_ALL=0.3515;ExAC_AFR=0.1450;ExAC_AMR=0.3177;ExAC_EAS=0.5468;ExAC_FIN=0.4163;ExAC_NFE=0.3895;ExAC_OTH=0.3602;ExAC_SAS=0.3392;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3629;gnomAD_exome_AFR=0.1481;gnomAD_exome_AMR=0.2859;gnomAD_exome_ASJ=0.4252;gnomAD_exome_EAS=0.5396;gnomAD_exome_FIN=0.3946;gnomAD_exome_NFE=0.3846;gnomAD_exome_OTH=0.3694;gnomAD_exome_SAS=0.3349;gnomAD_genome_ALL=0.3198;gnomAD_genome_AFR=0.1544;gnomAD_genome_AMR=0.2852;gnomAD_genome_ASJ=0.4570;gnomAD_genome_EAS=0.5037;gnomAD_genome_FIN=0.4092;gnomAD_genome_NFE=0.3705;gnomAD_genome_OTH=0.3827;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1253:618:18909:594:16898:-960.889,0,-1163.05 +chr10 112572458 . G C 21494.8 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=987;CIGAR=1X;DP=1004;DPB=1004;DPRA=0;EPP=35.2216;EPPR=8.80089;GTI=0;LEN=1;MEANALT=3;MQM=33.308;MQMR=31.3333;NS=1;NUMALT=1;ODDS=1331.44;PAIRED=0.924012;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=27887;QR=124;RO=6;RPL=483;RPP=3.98053;RPPR=8.80089;RPR=504;RUN=1;SAF=421;SAP=49.2668;SAR=566;SRF=2;SRP=4.45795;SRR=4;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon9:c.G2303C:p.W768S;cytoBand=10q25.2;esp6500siv2_all=0.9936;esp6500siv2_ea=0.9994;esp6500siv2_all=0.9936;esp6500siv2_ea=0.9994;1000g2015aug_all=0.991014;avsnp147=rs1417635;Kaviar_AF=0.31257;Kaviar_AC=48324;Kaviar_AN=154602;ExAC_ALL=0.9968;ExAC_AFR=0.9697;ExAC_AMR=0.9951;ExAC_EAS=0.9984;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=142604;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9982;gnomAD_exome_AFR=0.9721;gnomAD_exome_AMR=0.9982;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=0.9998;gnomAD_exome_NFE=0.9997;gnomAD_exome_OTH=0.9992;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9919;gnomAD_genome_AFR=0.9720;gnomAD_genome_AMR=0.9976;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9997;gnomAD_genome_OTH=0.9990;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1004:6:124:987:27887:-2159.54,-289.747,0 +chr10 112581683 . G A 3037.8 . AB=0.407279;ABP=46.0973;AC=1;AF=0.5;AN=2;AO=235;CIGAR=1X;DP=577;DPB=577;DPRA=0;EPP=20.0956;EPPR=47.7986;GTI=0;LEN=1;MEANALT=3;MQM=31.1404;MQMR=31.7209;NS=1;NUMALT=1;ODDS=699.479;PAIRED=0.702128;PAIREDR=0.791411;PAO=0;PQA=0;PQR=0;PRO=0;QA=6839;QR=10025;RO=326;RPL=114;RPP=3.46308;RPPR=4.31585;RPR=121;RUN=1;SAF=49;SAP=176.442;SAR=186;SRF=86;SRP=160.982;SRR=240;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon11:c.G3306A:p.V1102V;cytoBand=10q25.2;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 0/1:577:326:10025:235:6839:-334.475,0,-564.851 +chr10 112590810 . G C 27049.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1209;CIGAR=1X;DP=1235;DPB=1235;DPRA=0;EPP=33.833;EPPR=19.0002;GTI=0;LEN=1;MEANALT=3;MQM=33.799;MQMR=31.3636;NS=1;NUMALT=1;ODDS=1616.82;PAIRED=0.885856;PAIREDR=0.818182;PAO=0;PQA=0;PQR=0;PRO=0;QA=35140;QR=154;RO=11;RPL=424;RPP=237.079;RPPR=4.78696;RPR=785;RUN=1;SAF=650;SAP=17.8837;SAR=559;SRF=3;SRP=7.94546;SRR=8;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=10q25.2;esp6500siv2_all=0.9713;esp6500siv2_ea=0.9994;esp6500siv2_all=0.9713;esp6500siv2_ea=0.9994;1000g2015aug_all=0.969649;avsnp147=rs7070640;Kaviar_AF=0.305209;Kaviar_AC=47186;Kaviar_AN=154602;ExAC_ALL=0.988;ExAC_AFR=0.8931;ExAC_AMR=0.9878;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=0.9998;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=53180;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9937;gnomAD_exome_AFR=0.8961;gnomAD_exome_AMR=0.9951;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=0.9998;gnomAD_exome_OTH=0.9979;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9719;gnomAD_genome_AFR=0.9017;gnomAD_genome_AMR=0.9952;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=0.9998;gnomAD_genome_OTH=0.9949;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1235:11:154:1209:35140:-2733.99,-355.092,0 +chr10 112595719 . G C 6130.63 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=331;CIGAR=1X;DP=358;DPB=358;DPRA=0;EPP=177.312;EPPR=31.2394;GTI=0;LEN=1;MEANALT=3;MQM=34.8822;MQMR=26.4615;NS=1;NUMALT=1;ODDS=407.518;PAIRED=0.990937;PAIREDR=0.846154;PAO=0;PQA=0;PQR=0;PRO=0;QA=7904;QR=195;RO=13;RPL=194;RPP=24.3248;RPPR=4.51363;RPR=137;RUN=1;SAF=112;SAP=78.1196;SAR=219;SRF=8;SRP=4.51363;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon14:c.G3667C:p.E1223Q;cytoBand=10q25.2;esp6500siv2_all=0.7584;esp6500siv2_ea=0.8724;esp6500siv2_all=0.7584;esp6500siv2_ea=0.8724;1000g2015aug_all=0.697085;avsnp147=rs942077;Kaviar_AF=0.0048447;Kaviar_AC=749;Kaviar_AN=154602;ExAC_ALL=0.7637;ExAC_AFR=0.4845;ExAC_AMR=0.8094;ExAC_EAS=0.7935;ExAC_FIN=0.9118;ExAC_NFE=0.8681;ExAC_OTH=0.7935;ExAC_SAS=0.7206;CLNALLELEID=53184;CLNDN=Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.007;SIFT_pred=D;Polyphen2_HDIV_score=0.834;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.322;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.027;MutationTaster_pred=P;MutationAssessor_score=1.245;MutationAssessor_pred=L;FATHMM_score=-2.99;FATHMM_pred=D;PROVEAN_score=-0.72;PROVEAN_pred=N;VEST3_score=0.087;CADD_raw=5.504;CADD_phred=26.3;DANN_score=0.997;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.917;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=5.17;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=0.979;phastCons20way_mammalian=0.433;SiPhy_29way_logOdds=17.448;hgmdPRO=.;gnomAD_exome_ALL=0.8024;gnomAD_exome_AFR=0.4687;gnomAD_exome_AMR=0.7846;gnomAD_exome_ASJ=0.8473;gnomAD_exome_EAS=0.8006;gnomAD_exome_FIN=0.8629;gnomAD_exome_NFE=0.8665;gnomAD_exome_OTH=0.8161;gnomAD_exome_SAS=0.7186;gnomAD_genome_ALL=0.7555;gnomAD_genome_AFR=0.4870;gnomAD_genome_AMR=0.7912;gnomAD_genome_ASJ=0.8444;gnomAD_genome_EAS=0.7874;gnomAD_genome_FIN=0.8569;gnomAD_genome_NFE=0.8760;gnomAD_genome_OTH=0.8252;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=1 GT:DP:RO:QR:AO:QA:GL 1/1:358:13:195:331:7904:-639.529,-88.9886,0 +chr10 121429633 . T C 9601.98 . AB=0.521866;ABP=8.70804;AC=1;AF=0.5;AN=2;AO=716;CIGAR=1X;DP=1372;DPB=1372;DPRA=0;EPP=29.808;EPPR=10.3599;GTI=0;LEN=1;MEANALT=3;MQM=31.1648;MQMR=34.1748;NS=1;NUMALT=1;ODDS=1728.21;PAIRED=0.881285;PAIREDR=0.916084;PAO=0;PQA=0;PQR=0;PRO=0;QA=18242;QR=14879;RO=572;RPL=293;RPP=54.2643;RPPR=14.0803;RPR=423;RUN=1;SAF=266;SAP=105.688;SAR=450;SRF=245;SRP=28.5365;SRR=327;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon2:c.T451C:p.C151R;cytoBand=10q26.11;esp6500siv2_all=0.1511;esp6500siv2_ea=0.2073;esp6500siv2_all=0.1511;esp6500siv2_ea=0.2073;1000g2015aug_all=0.0964457;avsnp147=rs2234962;Kaviar_AF=0.174092;Kaviar_AC=26915;Kaviar_AN=154602;ExAC_ALL=0.1767;ExAC_AFR=0.0386;ExAC_AMR=0.0953;ExAC_EAS=0.0012;ExAC_FIN=0.2257;ExAC_NFE=0.2214;ExAC_OTH=0.1919;ExAC_SAS=0.2109;CLNALLELEID=53950;CLNDN=not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.044;SIFT_pred=D;Polyphen2_HDIV_score=0.664;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.317;Polyphen2_HVAR_pred=B;LRT_score=0.254;LRT_pred=N;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.695;MutationAssessor_pred=N;FATHMM_score=-1.02;FATHMM_pred=T;PROVEAN_score=-1.74;PROVEAN_pred=N;VEST3_score=0.289;CADD_raw=4.176;CADD_phred=23.8;DANN_score=0.986;fathmm-MKL_coding_score=0.807;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.099;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.834;integrated_confidence_value=0;GERP++_RS=0.064;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.123;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=5.413;hgmdPRO=id:CM1111343#"Cardiomyopathy_dilated_reduced_risk";gnomAD_exome_ALL=0.1743;gnomAD_exome_AFR=0.0359;gnomAD_exome_AMR=0.0996;gnomAD_exome_ASJ=0.2201;gnomAD_exome_EAS=0.0011;gnomAD_exome_FIN=0.2273;gnomAD_exome_NFE=0.2177;gnomAD_exome_OTH=0.1811;gnomAD_exome_SAS=0.2103;gnomAD_genome_ALL=0.1475;gnomAD_genome_AFR=0.0370;gnomAD_genome_AMR=0.1098;gnomAD_genome_ASJ=0.2067;gnomAD_genome_EAS=0.0031;gnomAD_genome_FIN=0.2334;gnomAD_genome_NFE=0.2062;gnomAD_genome_OTH=0.1803;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1372:572:14879:716:18242:-990.128,0,-766.534 +chr10 121436362 . A G 9561.43 . AB=0.511231;ABP=4.22968;AC=1;AF=0.5;AN=2;AO=569;CIGAR=1X;DP=1113;DPB=1113;DPRA=0;EPP=28.049;EPPR=13.9995;GTI=0;LEN=1;MEANALT=3;MQM=34.7417;MQMR=34.9474;NS=1;NUMALT=1;ODDS=1847.33;PAIRED=0.931459;PAIREDR=0.8583;PAO=0;PQA=0;PQR=0;PRO=0;QA=16304;QR=14579;RO=494;RPL=308;RPP=11.4405;RPPR=7.51149;RPR=261;RUN=1;SAF=336;SAP=43.4974;SAR=233;SRF=295;SRP=43.521;SRR=199;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon4:c.A1296G:p.V432V;cytoBand=10q26.11;esp6500siv2_all=0.7703;esp6500siv2_ea=0.7792;esp6500siv2_all=0.7703;esp6500siv2_ea=0.7792;1000g2015aug_all=0.70647;avsnp147=rs196295;Kaviar_AF=0.740042;Kaviar_AC=114412;Kaviar_AN=154602;ExAC_ALL=0.7409;ExAC_AFR=0.7517;ExAC_AMR=0.6310;ExAC_EAS=0.5208;ExAC_FIN=0.7299;ExAC_NFE=0.7819;ExAC_OTH=0.7632;ExAC_SAS=0.7637;CLNALLELEID=53944;CLNDN=Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided;CLNDISDB=MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7384;gnomAD_exome_AFR=0.7530;gnomAD_exome_AMR=0.6405;gnomAD_exome_ASJ=0.8181;gnomAD_exome_EAS=0.5160;gnomAD_exome_FIN=0.7422;gnomAD_exome_NFE=0.7841;gnomAD_exome_OTH=0.7623;gnomAD_exome_SAS=0.7641;gnomAD_genome_ALL=0.7508;gnomAD_genome_AFR=0.7533;gnomAD_genome_AMR=0.6439;gnomAD_genome_ASJ=0.8079;gnomAD_genome_EAS=0.5216;gnomAD_genome_FIN=0.7437;gnomAD_genome_NFE=0.7798;gnomAD_genome_OTH=0.7622;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1113:494:14579:569:16304:-972.745,0,-816.999 +chr11 534242 . A G 10806.4 . AB=0.466299;ABP=19.1101;AC=1;AF=0.5;AN=2;AO=761;CIGAR=1X;DP=1632;DPB=1632;DPRA=0;EPP=50.4945;EPPR=14.6383;GTI=0;LEN=1;MEANALT=3;MQM=31.7845;MQMR=34.199;NS=1;NUMALT=1;ODDS=2488.27;PAIRED=0.856767;PAIREDR=0.880862;PAO=0;PQA=0;PQR=0;PRO=0;QA=21100;QR=22384;RO=789;RPL=358;RPP=8.78853;RPPR=5.01664;RPR=403;RUN=1;SAF=428;SAP=28.7627;SAR=333;SRF=461;SRP=51.6937;SRR=328;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=HRAS;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=HRAS:NM_001130442:exon2:c.T81C:p.H27H,HRAS:NM_005343:exon2:c.T81C:p.H27H,HRAS:NM_176795:exon2:c.T81C:p.H27H;cytoBand=11p15.5;esp6500siv2_all=0.3545;esp6500siv2_ea=0.3441;esp6500siv2_all=0.3545;esp6500siv2_ea=0.3441;1000g2015aug_all=0.297125;avsnp147=rs12628;Kaviar_AF=0.313334;Kaviar_AC=48442;Kaviar_AN=154602;ExAC_ALL=0.3135;ExAC_AFR=0.3771;ExAC_AMR=0.3680;ExAC_EAS=0.1893;ExAC_FIN=0.2630;ExAC_NFE=0.3297;ExAC_OTH=0.2805;ExAC_SAS=0.2579;CLNALLELEID=48901;CLNDN=Rasopathy|not_specified|not_provided;CLNDISDB=MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=id:CM035804#"Bladder_cancer_association_with";gnomAD_exome_ALL=0.3157;gnomAD_exome_AFR=0.3789;gnomAD_exome_AMR=0.3814;gnomAD_exome_ASJ=0.2712;gnomAD_exome_EAS=0.1885;gnomAD_exome_FIN=0.2675;gnomAD_exome_NFE=0.3384;gnomAD_exome_OTH=0.3086;gnomAD_exome_SAS=0.2520;gnomAD_genome_ALL=0.3432;gnomAD_genome_AFR=0.3836;gnomAD_genome_AMR=0.3600;gnomAD_genome_ASJ=0.2616;gnomAD_genome_EAS=0.2135;gnomAD_genome_FIN=0.2675;gnomAD_genome_NFE=0.3542;gnomAD_genome_OTH=0.3134;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.356061::-0.197663;Heart_Left_Ventricle=Heart_Left_Ventricle::0.338235::0.323458;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:1632:789:22384:761:21100:-1096.98,0,-1269.85 +chr11 2797320 . A G 9259.59 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=437;CIGAR=1X;DP=445;DPB=445;DPRA=0;EPP=4.12833;EPPR=11.6962;GTI=0;LEN=1;MEANALT=2;MQM=32.2151;MQMR=32.75;NS=1;NUMALT=1;ODDS=579.4;PAIRED=0.933638;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=13004;QR=114;RO=4;RPL=287;RPP=96.2743;RPPR=5.18177;RPR=150;RUN=1;SAF=109;SAP=241.331;SAR=328;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.5;esp6500siv2_all=0.6679;esp6500siv2_ea=0.6891;esp6500siv2_all=0.6679;esp6500siv2_ea=0.6891;1000g2015aug_all=0.668331;avsnp147=rs163150;Kaviar_AF=0.428591;Kaviar_AC=66261;Kaviar_AN=154602;ExAC_ALL=0.6896;ExAC_AFR=0.6143;ExAC_AMR=0.5761;ExAC_EAS=0.7178;ExAC_FIN=0.8023;ExAC_NFE=0.6840;ExAC_OTH=0.7158;ExAC_SAS=0.7248;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6686;gnomAD_exome_AFR=0.6031;gnomAD_exome_AMR=0.5498;gnomAD_exome_ASJ=0.6796;gnomAD_exome_EAS=0.7088;gnomAD_exome_FIN=0.7475;gnomAD_exome_NFE=0.6784;gnomAD_exome_OTH=0.6627;gnomAD_exome_SAS=0.7272;gnomAD_genome_ALL=0.6683;gnomAD_genome_AFR=0.6130;gnomAD_genome_AMR=0.5800;gnomAD_genome_ASJ=0.6722;gnomAD_genome_EAS=0.7079;gnomAD_genome_FIN=0.7275;gnomAD_genome_NFE=0.6863;gnomAD_genome_OTH=0.6844;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:445:4:114:437:13004:-962.264,-123.659,0 +chr11 2869188 . C T 7004.51 . AB=0.478081;ABP=8.05552;AC=1;AF=0.5;AN=2;AO=578;CIGAR=1X;DP=1209;DPB=1209;DPRA=0;EPP=144.404;EPPR=47.2629;GTI=0;LEN=1;MEANALT=3;MQM=28.019;MQMR=26.3087;NS=1;NUMALT=1;ODDS=1612.85;PAIRED=0.854671;PAIREDR=0.883362;PAO=0;PQA=0;PQR=0;PRO=0;QA=15532;QR=17907;RO=583;RPL=412;RPP=230.361;RPPR=83.4963;RPR=166;RUN=1;SAF=208;SAP=101.606;SAR=370;SRF=221;SRP=77.0601;SRR=362;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon16:c.C1986T:p.Y662Y,KCNQ1:NM_181798:exon16:c.C1605T:p.Y535Y;cytoBand=11p15.4;esp6500siv2_all=0.1734;esp6500siv2_ea=0.2328;esp6500siv2_all=0.1734;esp6500siv2_ea=0.2328;1000g2015aug_all=0.0832668;avsnp147=rs11601907;Kaviar_AF=0.142611;Kaviar_AC=22048;Kaviar_AN=154602;ExAC_ALL=0.2607;ExAC_AFR=0.0759;ExAC_AMR=0.2044;ExAC_EAS=0.0012;ExAC_FIN=0.4646;ExAC_NFE=0.3658;ExAC_OTH=0.2180;ExAC_SAS=0.1257;CLNALLELEID=51659;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1725;gnomAD_exome_AFR=0.0410;gnomAD_exome_AMR=0.0930;gnomAD_exome_ASJ=0.1796;gnomAD_exome_EAS=0.0005;gnomAD_exome_FIN=0.2710;gnomAD_exome_NFE=0.2550;gnomAD_exome_OTH=0.1786;gnomAD_exome_SAS=0.0933;gnomAD_genome_ALL=0.1875;gnomAD_genome_AFR=0.0512;gnomAD_genome_AMR=0.1313;gnomAD_genome_ASJ=0.2119;gnomAD_genome_EAS=0.0006;gnomAD_genome_FIN=0.2698;gnomAD_genome_NFE=0.2676;gnomAD_genome_OTH=0.2366;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1209:583:17907:578:15532:-756.324,0,-800.932 +chr11 6630028 . TCCCCCA TCCCCA 31419.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1421;CIGAR=1M1D5M;DP=1554;DPB=1429.14;DPRA=0;EPP=389.641;EPPR=5.18177;GTI=0;LEN=1;MEANALT=50;MQM=35.4455;MQMR=23;NS=1;NUMALT=1;ODDS=2178.13;PAIRED=0.949331;PAIREDR=1;PAO=85;PQA=2200;PQR=1917;PRO=73;QA=36671;QR=17;RO=1;RPL=727;RPP=4.67443;RPPR=5.18177;RPR=694;RUN=1;SAF=597;SAP=81.7533;SAR=824;SRF=1;SRP=5.18177;SRR=0;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.4;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs11314683;Kaviar_AF=0.0293981;Kaviar_AC=4545;Kaviar_AN=154602;ExAC_ALL=1.0000;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=198367;CLNDN=Cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=1.0000;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1.0000;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1554:1:17:1421:36671:-3193.58,-518.133,0 +chr11 6630410 . T C 10715.5 . AB=0.455305;ABP=29.991;AC=1;AF=0.5;AN=2;AO=708;CIGAR=1X;DP=1555;DPB=1555;DPRA=0;EPP=47.1758;EPPR=12.0437;GTI=0;LEN=1;MEANALT=3;MQM=35.4661;MQMR=37.5826;NS=1;NUMALT=1;ODDS=2467.34;PAIRED=0.964689;PAIREDR=0.930858;PAO=0;PQA=0;PQR=0;PRO=0;QA=18893;QR=22354;RO=781;RPL=354;RPP=3.0103;RPPR=55.1951;RPR=354;RUN=1;SAF=382;SAP=12.6286;SAR=326;SRF=412;SRP=8.15121;SRR=369;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11p15.4;esp6500siv2_all=0.1882;esp6500siv2_ea=0.2548;esp6500siv2_all=0.1882;esp6500siv2_ea=0.2548;1000g2015aug_all=0.120807;avsnp147=rs11826498;Kaviar_AF=0.205761;Kaviar_AC=31811;Kaviar_AN=154602;ExAC_ALL=0.2074;ExAC_AFR=0.0560;ExAC_AMR=0.2071;ExAC_EAS=0.1062;ExAC_FIN=0.2881;ExAC_NFE=0.2542;ExAC_OTH=0.2119;ExAC_SAS=0.1341;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2113;gnomAD_exome_AFR=0.0511;gnomAD_exome_AMR=0.2026;gnomAD_exome_ASJ=0.2471;gnomAD_exome_EAS=0.1029;gnomAD_exome_FIN=0.2949;gnomAD_exome_NFE=0.2530;gnomAD_exome_OTH=0.2188;gnomAD_exome_SAS=0.1365;gnomAD_genome_ALL=0.1950;gnomAD_genome_AFR=0.0588;gnomAD_genome_AMR=0.1874;gnomAD_genome_ASJ=0.1987;gnomAD_genome_EAS=0.0968;gnomAD_genome_FIN=0.2961;gnomAD_genome_NFE=0.2603;gnomAD_genome_OTH=0.2184;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1555:781:22354:708:18893:-1085.97,0,-1399.68 +chr11 6631016 . C T 10129.2 . AB=0.476423;ABP=8.94919;AC=1;AF=0.5;AN=2;AO=586;CIGAR=1X;DP=1230;DPB=1230;DPRA=0;EPP=59.9874;EPPR=52.904;GTI=0;LEN=1;MEANALT=3;MQM=36.9915;MQMR=38.1964;NS=1;NUMALT=1;ODDS=2332.33;PAIRED=0.93686;PAIREDR=0.947195;PAO=0;PQA=0;PQR=0;PRO=0;QA=17111;QR=19104;RO=606;RPL=341;RPP=37.161;RPPR=10.5925;RPR=245;RUN=1;SAF=198;SAP=136.782;SAR=388;SRF=216;SRP=111.498;SRR=390;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ILK;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ILK:NM_001278441:exon8:c.C735T:p.A245A,ILK:NM_001014795:exon9:c.C918T:p.A306A,ILK:NM_001278442:exon9:c.C516T:p.A172A,ILK:NM_001014794:exon10:c.C918T:p.A306A,ILK:NM_004517:exon10:c.C918T:p.A306A;cytoBand=11p15.4;esp6500siv2_all=0.2273;esp6500siv2_ea=0.2647;esp6500siv2_all=0.2273;esp6500siv2_ea=0.2647;1000g2015aug_all=0.160144;avsnp147=rs2292195;Kaviar_AF=0.226996;Kaviar_AC=35094;Kaviar_AN=154602;ExAC_ALL=0.2269;ExAC_AFR=0.1522;ExAC_AMR=0.2443;ExAC_EAS=0.1105;ExAC_FIN=0.2913;ExAC_NFE=0.2594;ExAC_OTH=0.2247;ExAC_SAS=0.1657;CLNALLELEID=141294;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2292;gnomAD_exome_AFR=0.1460;gnomAD_exome_AMR=0.2371;gnomAD_exome_ASJ=0.2539;gnomAD_exome_EAS=0.1078;gnomAD_exome_FIN=0.2976;gnomAD_exome_NFE=0.2581;gnomAD_exome_OTH=0.2348;gnomAD_exome_SAS=0.1666;gnomAD_genome_ALL=0.2265;gnomAD_genome_AFR=0.1492;gnomAD_genome_AMR=0.2231;gnomAD_genome_ASJ=0.2086;gnomAD_genome_EAS=0.1011;gnomAD_genome_FIN=0.2987;gnomAD_genome_NFE=0.2689;gnomAD_genome_OTH=0.2235;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.230038::0.178556;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1230:606:19104:586:17111:-1043.83,0,-1223.51 +chr11 47354787 . C T 10096 . AB=0.454097;ABP=32.7138;AC=1;AF=0.5;AN=2;AO=737;CIGAR=1X;DP=1623;DPB=1623;DPRA=0;EPP=4.85178;EPPR=3.01297;GTI=0;LEN=1;MEANALT=3;MQM=33.5536;MQMR=35.3137;NS=1;NUMALT=1;ODDS=2324.69;PAIRED=0.877883;PAIREDR=0.924969;PAO=0;PQA=0;PQR=0;PRO=0;QA=19581;QR=25146;RO=813;RPL=268;RPP=122.046;RPPR=251.474;RPR=469;RUN=1;SAF=487;SAP=168.505;SAR=250;SRF=500;SRP=96.4103;SRR=313;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon29:c.G3288A:p.E1096E;cytoBand=11p11.2;esp6500siv2_all=0.3550;esp6500siv2_ea=0.3039;esp6500siv2_all=0.3550;esp6500siv2_ea=0.3039;1000g2015aug_all=0.476238;avsnp147=rs1052373;Kaviar_AF=0.353605;Kaviar_AC=54668;Kaviar_AN=154602;ExAC_ALL=0.4707;ExAC_AFR=0.5417;ExAC_AMR=0.5499;ExAC_EAS=0.7248;ExAC_FIN=0.5246;ExAC_NFE=0.3910;ExAC_OTH=0.3691;ExAC_SAS=0.5002;CLNALLELEID=51870;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4018;gnomAD_exome_AFR=0.5011;gnomAD_exome_AMR=0.4434;gnomAD_exome_ASJ=0.2603;gnomAD_exome_EAS=0.6981;gnomAD_exome_FIN=0.4259;gnomAD_exome_NFE=0.3187;gnomAD_exome_OTH=0.3333;gnomAD_exome_SAS=0.4666;gnomAD_genome_ALL=0.3986;gnomAD_genome_AFR=0.4834;gnomAD_genome_AMR=0.4010;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.6979;gnomAD_genome_FIN=0.4185;gnomAD_genome_NFE=0.3157;gnomAD_genome_OTH=0.3914;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.344697::-0.2176;Heart_Left_Ventricle=Heart_Left_Ventricle::0.356618::-0.156785;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:1623:813:25146:737:19581:-1047.75,0,-1517.3 +chr11 47369443 . G A 3454.25 . AB=0.432285;ABP=32.1247;AC=1;AF=0.5;AN=2;AO=316;CIGAR=1X;DP=731;DPB=731;DPRA=0;EPP=3.03779;EPPR=30.0159;GTI=0;LEN=1;MEANALT=3;MQM=26.4557;MQMR=24.5305;NS=1;NUMALT=1;ODDS=795.37;PAIRED=0.734177;PAIREDR=0.756345;PAO=0;PQA=0;PQR=0;PRO=0;QA=8689;QR=11973;RO=394;RPL=182;RPP=18.8428;RPPR=34.8439;RPR=134;RUN=1;SAF=165;SAP=4.35716;SAR=151;SRF=197;SRP=3.0103;SRR=197;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon7:c.C786T:p.T262T;cytoBand=11p11.2;esp6500siv2_all=0.0933;esp6500siv2_ea=0.1184;esp6500siv2_all=0.0933;esp6500siv2_ea=0.1184;1000g2015aug_all=0.0611022;avsnp147=rs11570058;Kaviar_AF=0.0725993;Kaviar_AC=11224;Kaviar_AN=154602;ExAC_ALL=0.1542;ExAC_AFR=0.0737;ExAC_AMR=0.1264;ExAC_EAS=0.0410;ExAC_FIN=0.3043;ExAC_NFE=0.2120;ExAC_OTH=0.1164;ExAC_SAS=0.0824;CLNALLELEID=51963;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0901;gnomAD_exome_AFR=0.0422;gnomAD_exome_AMR=0.0453;gnomAD_exome_ASJ=0.0931;gnomAD_exome_EAS=0.0160;gnomAD_exome_FIN=0.1143;gnomAD_exome_NFE=0.1256;gnomAD_exome_OTH=0.1013;gnomAD_exome_SAS=0.0665;gnomAD_genome_ALL=0.0890;gnomAD_genome_AFR=0.0402;gnomAD_genome_AMR=0.0501;gnomAD_genome_ASJ=0.0861;gnomAD_genome_EAS=0.0192;gnomAD_genome_FIN=0.1229;gnomAD_genome_NFE=0.1173;gnomAD_genome_OTH=0.1207;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:731:394:11973:316:8689:-356.577,0,-510.41 +chr11 47370041 . T C 12523.9 . AB=0.509653;ABP=4.26791;AC=1;AF=0.5;AN=2;AO=792;CIGAR=1X;DP=1554;DPB=1554;DPRA=0;EPP=59.8634;EPPR=6.5162;GTI=0;LEN=1;MEANALT=3;MQM=33.0164;MQMR=36.4553;NS=1;NUMALT=1;ODDS=2883.74;PAIRED=0.900253;PAIREDR=0.872905;PAO=0;PQA=0;PQR=0;PRO=0;QA=22229;QR=22005;RO=716;RPL=485;RPP=89.8802;RPPR=155.183;RPR=307;RUN=1;SAF=367;SAP=12.2336;SAR=425;SRF=341;SRP=6.5162;SRR=375;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon6:c.A706G:p.S236G;cytoBand=11p11.2;esp6500siv2_all=0.1034;esp6500siv2_ea=0.1263;esp6500siv2_all=0.1034;esp6500siv2_ea=0.1263;1000g2015aug_all=0.0670927;avsnp147=rs3729989;Kaviar_AF=0.100898;Kaviar_AC=15599;Kaviar_AN=154602;ExAC_ALL=0.1079;ExAC_AFR=0.0621;ExAC_AMR=0.0481;ExAC_EAS=0.0308;ExAC_FIN=0.1390;ExAC_NFE=0.1393;ExAC_OTH=0.1052;ExAC_SAS=0.0753;CLNALLELEID=51956;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=0.999;MutationTaster_pred=P;MutationAssessor_score=-1.655;MutationAssessor_pred=N;FATHMM_score=-0.3;FATHMM_pred=T;PROVEAN_score=2.16;PROVEAN_pred=N;VEST3_score=0.048;CADD_raw=0.243;CADD_phred=5.127;DANN_score=0.220;fathmm-MKL_coding_score=0.031;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.055;MetaSVM_pred=T;MetaLR_score=0.001;MetaLR_pred=T;integrated_fitCons_score=0.403;integrated_confidence_value=0;GERP++_RS=5.12;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=-0.420;phastCons7way_vertebrate=0.719;phastCons20way_mammalian=0.448;SiPhy_29way_logOdds=13.832;hgmdPRO=id:CM043536#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0969;gnomAD_exome_AFR=0.0539;gnomAD_exome_AMR=0.0459;gnomAD_exome_ASJ=0.1067;gnomAD_exome_EAS=0.0293;gnomAD_exome_FIN=0.1203;gnomAD_exome_NFE=0.1305;gnomAD_exome_OTH=0.1105;gnomAD_exome_SAS=0.0680;gnomAD_genome_ALL=0.0957;gnomAD_genome_AFR=0.0535;gnomAD_genome_AMR=0.0513;gnomAD_genome_ASJ=0.0933;gnomAD_genome_EAS=0.0321;gnomAD_genome_FIN=0.1262;gnomAD_genome_NFE=0.1209;gnomAD_genome_OTH=0.1235;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.100379::-0.215729;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1554:716:22005:792:22229:-1276.94,0,-1322.54 +chr11 118037813 . G T 14113.2 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=800;CIGAR=1X;DP=891;DPB=891;DPRA=0;EPP=9.26414;EPPR=35.7339;GTI=0;LEN=1;MEANALT=3;MQM=32.8312;MQMR=29.5698;NS=1;NUMALT=1;ODDS=702.076;PAIRED=0.94375;PAIREDR=0.94186;PAO=0;PQA=0;PQR=0;PRO=0;QA=20668;QR=1568;RO=86;RPL=569;RPP=313.107;RPPR=5.53527;RPR=231;RUN=1;SAF=215;SAP=374.604;SAR=585;SRF=25;SRP=35.7339;SRR=61;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN2B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11q23.3;esp6500siv2_all=0.4381;esp6500siv2_ea=0.4707;esp6500siv2_all=0.4381;esp6500siv2_ea=0.4707;1000g2015aug_all=0.514377;avsnp147=rs8192613;Kaviar_AF=0.489121;Kaviar_AC=75619;Kaviar_AN=154602;ExAC_ALL=0.5022;ExAC_AFR=0.3677;ExAC_AMR=0.4808;ExAC_EAS=0.7731;ExAC_FIN=0.5623;ExAC_NFE=0.4739;ExAC_OTH=0.5190;ExAC_SAS=0.5480;CLNALLELEID=254012;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5047;gnomAD_exome_AFR=0.3585;gnomAD_exome_AMR=0.4848;gnomAD_exome_ASJ=0.5451;gnomAD_exome_EAS=0.7742;gnomAD_exome_FIN=0.5459;gnomAD_exome_NFE=0.4661;gnomAD_exome_OTH=0.4885;gnomAD_exome_SAS=0.5510;gnomAD_genome_ALL=0.4615;gnomAD_genome_AFR=0.3484;gnomAD_genome_AMR=0.4653;gnomAD_genome_ASJ=0.5596;gnomAD_genome_EAS=0.7733;gnomAD_genome_FIN=0.5592;gnomAD_genome_NFE=0.4683;gnomAD_genome_OTH=0.4663;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.479087::0.162783;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 1/1:891:86:1568:800:20668:-1477,-147.32,0 +chr11 123504959 . C G 11745.8 . AB=0.462715;ABP=21.9557;AC=1;AF=0.5;AN=2;AO=726;CIGAR=1X;DP=1569;DPB=1569;DPRA=0;EPP=3.05816;EPPR=14.1851;GTI=0;LEN=1;MEANALT=3;MQM=37.3719;MQMR=38.2424;NS=1;NUMALT=1;ODDS=2704.57;PAIRED=0.953168;PAIREDR=0.929354;PAO=0;PQA=0;PQR=0;PRO=0;QA=19938;QR=25191;RO=821;RPL=507;RPP=251.097;RPPR=154.09;RPR=219;RUN=1;SAF=350;SAP=5.03222;SAR=376;SRF=437;SRP=10.4399;SRR=384;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11q24.1;esp6500siv2_all=0.6690;esp6500siv2_ea=0.5523;esp6500siv2_all=0.6690;esp6500siv2_ea=0.5523;1000g2015aug_all=0.750599;avsnp147=rs1148110;Kaviar_AF=0.605458;Kaviar_AC=93605;Kaviar_AN=154602;ExAC_ALL=0.6276;ExAC_AFR=0.9085;ExAC_AMR=0.5889;ExAC_EAS=0.7535;ExAC_FIN=0.4958;ExAC_NFE=0.5550;ExAC_OTH=0.6176;ExAC_SAS=0.7542;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6185;gnomAD_exome_AFR=0.9133;gnomAD_exome_AMR=0.5986;gnomAD_exome_ASJ=0.6428;gnomAD_exome_EAS=0.7563;gnomAD_exome_FIN=0.4834;gnomAD_exome_NFE=0.5519;gnomAD_exome_OTH=0.5862;gnomAD_exome_SAS=0.7502;gnomAD_genome_ALL=0.6546;gnomAD_genome_AFR=0.9078;gnomAD_genome_AMR=0.6074;gnomAD_genome_ASJ=0.6040;gnomAD_genome_EAS=0.7460;gnomAD_genome_FIN=0.4983;gnomAD_genome_NFE=0.5424;gnomAD_genome_OTH=0.5774;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1569:821:25191:726:19938:-1209.8,0,-1634.25 +chr11 128781339 . T C 27611 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1170;CIGAR=1X;DP=1190;DPB=1190;DPRA=0;EPP=159.096;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=35.0077;MQMR=40;NS=1;NUMALT=1;ODDS=1606.59;PAIRED=0.905983;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=35583;QR=59;RO=2;RPL=454;RPP=130.411;RPPR=7.35324;RPR=716;RUN=1;SAF=596;SAP=3.90858;SAR=574;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T171C:p.S57S;cytoBand=11q24.3;esp6500siv2_all=0.8483;esp6500siv2_ea=0.8250;esp6500siv2_all=0.8483;esp6500siv2_ea=0.8250;1000g2015aug_all=0.869808;avsnp147=rs6590357;Kaviar_AF=0.833178;Kaviar_AC=128811;Kaviar_AN=154602;ExAC_ALL=0.8436;ExAC_AFR=0.8982;ExAC_AMR=0.8065;ExAC_EAS=0.8790;ExAC_FIN=0.7900;ExAC_NFE=0.8296;ExAC_OTH=0.8256;ExAC_SAS=0.8953;CLNALLELEID=141693;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.8400;gnomAD_exome_AFR=0.9041;gnomAD_exome_AMR=0.8139;gnomAD_exome_ASJ=0.8466;gnomAD_exome_EAS=0.8801;gnomAD_exome_FIN=0.7931;gnomAD_exome_NFE=0.8274;gnomAD_exome_OTH=0.8384;gnomAD_exome_SAS=0.8920;gnomAD_genome_ALL=0.8476;gnomAD_genome_AFR=0.9048;gnomAD_genome_AMR=0.8162;gnomAD_genome_ASJ=0.8179;gnomAD_genome_EAS=0.8915;gnomAD_genome_FIN=0.7991;gnomAD_genome_NFE=0.8249;gnomAD_genome_OTH=0.8218;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1190:2:59:1170:35583:-2793.48,-347.557,0 +chr11 128781978 . T G 20667.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=983;CIGAR=1X;DP=1016;DPB=1016;DPRA=0;EPP=36.4307;EPPR=6.91895;GTI=0;LEN=1;MEANALT=3;MQM=33.3561;MQMR=28.55;NS=1;NUMALT=1;ODDS=1233.34;PAIRED=0.948118;PAIREDR=0.95;PAO=0;PQA=0;PQR=0;PRO=0;QA=26685;QR=406;RO=20;RPL=415;RPP=54.7214;RPPR=3.44459;RPR=568;RUN=1;SAF=585;SAP=80.2577;SAR=398;SRF=8;SRP=4.74748;SRR=12;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T810G:p.L270L;cytoBand=11q24.3;esp6500siv2_all=0.8427;esp6500siv2_ea=0.8216;esp6500siv2_all=0.8427;esp6500siv2_ea=0.8216;1000g2015aug_all=0.866214;avsnp147=rs7118824;Kaviar_AF=0.829368;Kaviar_AC=128222;Kaviar_AN=154602;ExAC_ALL=0.8414;ExAC_AFR=0.8897;ExAC_AMR=0.8056;ExAC_EAS=0.8791;ExAC_FIN=0.7893;ExAC_NFE=0.8277;ExAC_OTH=0.8234;ExAC_SAS=0.8940;CLNALLELEID=141694;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.8381;gnomAD_exome_AFR=0.8941;gnomAD_exome_AMR=0.8135;gnomAD_exome_ASJ=0.8465;gnomAD_exome_EAS=0.8800;gnomAD_exome_FIN=0.7928;gnomAD_exome_NFE=0.8250;gnomAD_exome_OTH=0.8357;gnomAD_exome_SAS=0.8909;gnomAD_genome_ALL=0.8424;gnomAD_genome_AFR=0.8930;gnomAD_genome_AMR=0.8150;gnomAD_genome_ASJ=0.8167;gnomAD_genome_EAS=0.8912;gnomAD_genome_FIN=0.7990;gnomAD_genome_NFE=0.8212;gnomAD_genome_OTH=0.8203;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.178309::-0.275185;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 1/1:1016:20:406:983:26685:-2084.95,-270.412,0 +chr11 128782002 . T C 22487.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1075;CIGAR=1X;DP=1122;DPB=1122;DPRA=0;EPP=178.799;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=33.4195;MQMR=33.125;NS=1;NUMALT=1;ODDS=1359.06;PAIRED=0.96093;PAIREDR=0.6875;PAO=0;PQA=0;PQR=0;PRO=0;QA=29424;QR=438;RO=16;RPL=392;RPP=174.064;RPPR=3.55317;RPR=683;RUN=1;SAF=576;SAP=14.9867;SAR=499;SRF=9;SRP=3.55317;SRR=7;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.T834C:p.H278H;cytoBand=11q24.3;esp6500siv2_all=0.8440;esp6500siv2_ea=0.8216;esp6500siv2_all=0.8440;esp6500siv2_ea=0.8216;1000g2015aug_all=0.867013;avsnp147=rs7118833;Kaviar_AF=0.822868;Kaviar_AC=127217;Kaviar_AN=154602;ExAC_ALL=0.8416;ExAC_AFR=0.8925;ExAC_AMR=0.8054;ExAC_EAS=0.8790;ExAC_FIN=0.7895;ExAC_NFE=0.8276;ExAC_OTH=0.8227;ExAC_SAS=0.8941;CLNALLELEID=141695;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.8383;gnomAD_exome_AFR=0.8973;gnomAD_exome_AMR=0.8135;gnomAD_exome_ASJ=0.8464;gnomAD_exome_EAS=0.8799;gnomAD_exome_FIN=0.7930;gnomAD_exome_NFE=0.8248;gnomAD_exome_OTH=0.8361;gnomAD_exome_SAS=0.8911;gnomAD_genome_ALL=0.8435;gnomAD_genome_AFR=0.8970;gnomAD_genome_AMR=0.8182;gnomAD_genome_ASJ=0.8167;gnomAD_genome_EAS=0.8912;gnomAD_genome_FIN=0.7991;gnomAD_genome_NFE=0.8211;gnomAD_genome_OTH=0.8193;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.176471::-0.277257;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 1/1:1122:16:438:1075:29424:-2287.46,-292.617,0 +chr11 128782012 . C G 23484 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1077;CIGAR=1X;DP=1113;DPB=1113;DPRA=0;EPP=234.717;EPPR=22.5536;GTI=0;LEN=1;MEANALT=3;MQM=33.8626;MQMR=25.1111;NS=1;NUMALT=1;ODDS=1444.9;PAIRED=0.957289;PAIREDR=0.777778;PAO=0;PQA=0;PQR=0;PRO=0;QA=30381;QR=157;RO=9;RPL=378;RPP=210.764;RPPR=9.04217;RPR=699;RUN=1;SAF=549;SAP=3.89945;SAR=528;SRF=2;SRP=9.04217;SRR=7;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNJ5:NM_000890:exon2:c.C844G:p.Q282E;cytoBand=11q24.3;esp6500siv2_all=0.9871;esp6500siv2_ea=0.9820;esp6500siv2_all=0.9871;esp6500siv2_ea=0.9820;1000g2015aug_all=0.995008;avsnp147=rs7102584;Kaviar_AF=0.967031;Kaviar_AC=149505;Kaviar_AN=154602;ExAC_ALL=0.9865;ExAC_AFR=0.9976;ExAC_AMR=0.9975;ExAC_EAS=1;ExAC_FIN=0.9761;ExAC_NFE=0.9791;ExAC_OTH=0.9912;ExAC_SAS=0.9986;CLNALLELEID=141696;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=0.997;MutationTaster_pred=P;MutationAssessor_score=-1.825;MutationAssessor_pred=N;FATHMM_score=-2.58;FATHMM_pred=D;PROVEAN_score=1.15;PROVEAN_pred=N;VEST3_score=0.022;CADD_raw=0.157;CADD_phred=4.219;DANN_score=0.396;fathmm-MKL_coding_score=0.294;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.907;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=5.46;phyloP7way_vertebrate=0.028;phyloP20way_mammalian=0.136;phastCons7way_vertebrate=0.994;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=16.452;hgmdPRO=id:CM141559#"Altered_channel_function";gnomAD_exome_ALL=0.9877;gnomAD_exome_AFR=0.9976;gnomAD_exome_AMR=0.9972;gnomAD_exome_ASJ=0.9978;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=0.9792;gnomAD_exome_NFE=0.9792;gnomAD_exome_OTH=0.9880;gnomAD_exome_SAS=0.9983;gnomAD_genome_ALL=0.9849;gnomAD_genome_AFR=0.9984;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9728;gnomAD_genome_NFE=0.9776;gnomAD_genome_OTH=0.9805;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1113:9:157:1077:30381:-2392.94,-315.325,0 +chr11 128786294 . G A 6522.25 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=332;CIGAR=1X;DP=345;DPB=345;DPRA=0;EPP=20.696;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=31.744;MQMR=25;NS=1;NUMALT=1;ODDS=452.636;PAIRED=0.804217;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=8910;QR=68;RO=2;RPL=77;RPP=210.242;RPPR=7.35324;RPR=255;RUN=1;SAF=217;SAP=71.0585;SAR=115;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=KCNJ5;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=11q24.3;esp6500siv2_all=0.7478;esp6500siv2_ea=0.7279;esp6500siv2_all=0.7478;esp6500siv2_ea=0.7279;1000g2015aug_all=0.735823;avsnp147=rs4937391;Kaviar_AF=0.724635;Kaviar_AC=112030;Kaviar_AN=154602;ExAC_ALL=0.7346;ExAC_AFR=0.7904;ExAC_AMR=0.6993;ExAC_EAS=0.6672;ExAC_FIN=0.6839;ExAC_NFE=0.7338;ExAC_OTH=0.7307;ExAC_SAS=0.7833;CLNALLELEID=141698;CLNDN=Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism;CLNDISDB=MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7310;gnomAD_exome_AFR=0.7927;gnomAD_exome_AMR=0.7094;gnomAD_exome_ASJ=0.7615;gnomAD_exome_EAS=0.6637;gnomAD_exome_FIN=0.6840;gnomAD_exome_NFE=0.7323;gnomAD_exome_OTH=0.7409;gnomAD_exome_SAS=0.7798;gnomAD_genome_ALL=0.7394;gnomAD_genome_AFR=0.7966;gnomAD_genome_AMR=0.7022;gnomAD_genome_ASJ=0.7219;gnomAD_genome_EAS=0.6720;gnomAD_genome_FIN=0.6878;gnomAD_genome_NFE=0.7287;gnomAD_genome_OTH=0.7274;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:345:2:68:332:8910:-684.939,-96.9722,0 +chr12 2558298 . GTT ATC 6629.87 . AB=0.455939;ABP=16.2139;AC=1;AF=0.5;AN=2;AO=357;CIGAR=1X1M1X;DP=783;DPB=790.667;DPRA=0;EPP=53.3799;EPPR=8.95572;GTI=0;LEN=3;MEANALT=21;MQM=37.8319;MQMR=39.1551;NS=1;NUMALT=1;ODDS=1526.58;PAIRED=0.952381;PAIREDR=0.954545;PAO=11;PQA=202;PQR=27;PRO=1;QA=10736;QR=11424;RO=374;RPL=253;RPP=138.049;RPPR=101.133;RPR=104;RUN=1;SAF=133;SAP=53.3799;SAR=224;SRF=169;SRP=10.535;SRR=205;TYPE=complex;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs386759537;Kaviar_AF=0.009159;Kaviar_AC=1416;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 0/1:783:374:11424:357:10736:-694.768,0,-760.906 +chr12 2659082 . G T 6377.76 . AB=0.465011;ABP=12.4315;AC=1;AF=0.5;AN=2;AO=412;CIGAR=1X;DP=886;DPB=886;DPRA=0;EPP=4.71796;EPPR=5.77749;GTI=0;LEN=1;MEANALT=3;MQM=32.7573;MQMR=35.7279;NS=1;NUMALT=1;ODDS=1468.53;PAIRED=0.929612;PAIREDR=0.946903;PAO=0;PQA=0;PQR=0;PRO=0;QA=11855;QR=13369;RO=452;RPL=170;RPP=30.3329;RPPR=32.2387;RPR=242;RUN=1;SAF=253;SAP=49.581;SAR=159;SRF=267;SRP=35.3134;SRR=185;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;esp6500siv2_all=0.2838;esp6500siv2_ea=0.2256;esp6500siv2_all=0.2838;esp6500siv2_ea=0.2256;1000g2015aug_all=0.294928;avsnp147=rs11062272;Kaviar_AF=0.208788;Kaviar_AC=32279;Kaviar_AN=154602;ExAC_ALL=0.3187;ExAC_AFR=0.4700;ExAC_AMR=0.3845;ExAC_EAS=0.3268;ExAC_FIN=0.3470;ExAC_NFE=0.3105;ExAC_OTH=0.3165;ExAC_SAS=0.2350;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2417;gnomAD_exome_AFR=0.4338;gnomAD_exome_AMR=0.2376;gnomAD_exome_ASJ=0.2832;gnomAD_exome_EAS=0.2254;gnomAD_exome_FIN=0.2151;gnomAD_exome_NFE=0.2304;gnomAD_exome_OTH=0.2519;gnomAD_exome_SAS=0.2108;gnomAD_genome_ALL=0.2825;gnomAD_genome_AFR=0.4255;gnomAD_genome_AMR=0.2291;gnomAD_genome_ASJ=0.2649;gnomAD_genome_EAS=0.2302;gnomAD_genome_FIN=0.2084;gnomAD_genome_NFE=0.2286;gnomAD_genome_OTH=0.2398;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:886:452:13369:412:11855:-653.559,0,-814.738 +chr12 2706720 . G C 23014.2 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=999;CIGAR=1X;DP=1031;DPB=1031;DPRA=0;EPP=103.487;EPPR=19.0002;GTI=0;LEN=1;MEANALT=3;MQM=36.955;MQMR=29.5455;NS=1;NUMALT=1;ODDS=1327.04;PAIRED=0.971972;PAIREDR=0.818182;PAO=0;PQA=0;PQR=0;PRO=0;QA=28196;QR=167;RO=11;RPL=445;RPP=28.8354;RPPR=7.94546;RPR=554;RUN=1;SAF=497;SAP=3.06464;SAR=502;SRF=2;SRP=12.6832;SRR=9;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;esp6500siv2_all=0.9479;esp6500siv2_ea=0.9739;esp6500siv2_all=0.9479;esp6500siv2_ea=0.9739;1000g2015aug_all=0.951278;avsnp147=rs215983;Kaviar_AF=0.186485;Kaviar_AC=28831;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.9530;gnomAD_genome_AFR=0.8848;gnomAD_genome_AMR=0.9785;gnomAD_genome_ASJ=0.9570;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9888;gnomAD_genome_NFE=0.9762;gnomAD_genome_OTH=0.9745;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1031:11:167:999:28196:-2313.98,-290.773,0 +chr12 2721137 . C T 13934 . AB=0.486741;ABP=5.60148;AC=1;AF=0.5;AN=2;AO=826;CIGAR=1X;DP=1697;DPB=1697;DPRA=0;EPP=34.82;EPPR=49.0392;GTI=0;LEN=1;MEANALT=3;MQM=35.4649;MQMR=36.8345;NS=1;NUMALT=1;ODDS=3208.43;PAIRED=0.949153;PAIREDR=0.935523;PAO=0;PQA=0;PQR=0;PRO=0;QA=23699;QR=25452;RO=822;RPL=401;RPP=4.52455;RPPR=4.53192;RPR=425;RUN=1;SAF=433;SAP=7.21654;SAR=393;SRF=418;SRP=3.52807;SRR=404;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129829:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129830:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129831:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129833:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129834:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129835:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129836:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129837:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129838:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129839:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129840:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129841:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129842:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129843:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129844:exon29:c.C3777T:p.F1259F,CACNA1C:NM_001129846:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167623:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167624:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001167625:exon29:c.C3786T:p.F1262F,CACNA1C:NM_001129827:exon30:c.C3846T:p.F1282F,CACNA1C:NM_001129832:exon30:c.C3846T:p.F1282F,CACNA1C:NM_199460:exon30:c.C3846T:p.F1282F;cytoBand=12p13.33;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.259185;avsnp147=rs216008;Kaviar_AF=0.205521;Kaviar_AC=31774;Kaviar_AN=154602;ExAC_ALL=0.2095;ExAC_AFR=0.2357;ExAC_AMR=0.2124;ExAC_EAS=0.3527;ExAC_FIN=0.1621;ExAC_NFE=0.1852;ExAC_OTH=0.2201;ExAC_SAS=0.2337;CLNALLELEID=99311;CLNDN=Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2097;gnomAD_exome_AFR=0.2336;gnomAD_exome_AMR=0.2170;gnomAD_exome_ASJ=0.2365;gnomAD_exome_EAS=0.3519;gnomAD_exome_FIN=0.1596;gnomAD_exome_NFE=0.1838;gnomAD_exome_OTH=0.2140;gnomAD_exome_SAS=0.2313;gnomAD_genome_ALL=0.2088;gnomAD_genome_AFR=0.2347;gnomAD_genome_AMR=0.1897;gnomAD_genome_ASJ=0.2715;gnomAD_genome_EAS=0.3688;gnomAD_genome_FIN=0.1554;gnomAD_genome_NFE=0.1901;gnomAD_genome_OTH=0.1878;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1697:822:25452:826:23699:-1405.54,0,-1583.9 +chr12 2788879 . G A 17411.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=903;CIGAR=1X;DP=1011;DPB=1011;DPRA=0;EPP=52.1847;EPPR=24.5973;GTI=0;LEN=1;MEANALT=3;MQM=30.4729;MQMR=26.0588;NS=1;NUMALT=1;ODDS=1153.48;PAIRED=0.888151;PAIREDR=0.411765;PAO=0;PQA=0;PQR=0;PRO=0;QA=24999;QR=399;RO=17;RPL=589;RPP=184.868;RPPR=13.3567;RPR=314;RUN=1;SAF=308;SAP=201.086;SAR=595;SRF=6;SRP=6.20364;SRR=11;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129838:exon41:c.G5385A:p.T1795T,CACNA1C:NM_001129839:exon41:c.G5379A:p.T1793T,CACNA1C:NM_001129846:exon41:c.G5328A:p.T1776T,CACNA1C:NM_001167625:exon41:c.G5328A:p.T1776T,CACNA1C:NM_000719:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129829:exon42:c.G5484A:p.T1828T,CACNA1C:NM_001129830:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129833:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129834:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129835:exon42:c.G5418A:p.T1806T,CACNA1C:NM_001129836:exon42:c.G5412A:p.T1804T,CACNA1C:NM_001129840:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129841:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129842:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129843:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129844:exon42:c.G5352A:p.T1784T,CACNA1C:NM_001167623:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001167624:exon42:c.G5361A:p.T1787T,CACNA1C:NM_001129831:exon43:c.G5445A:p.T1815T,CACNA1C:NM_001129832:exon43:c.G5421A:p.T1807T,CACNA1C:NM_001129827:exon44:c.G5505A:p.T1835T,CACNA1C:NM_199460:exon44:c.G5505A:p.T1835T;cytoBand=12p13.33;esp6500siv2_all=0.5811;esp6500siv2_ea=0.7295;esp6500siv2_all=0.5811;esp6500siv2_ea=0.7295;1000g2015aug_all=0.526358;avsnp147=rs1051375;Kaviar_AF=0.628414;Kaviar_AC=97154;Kaviar_AN=154602;ExAC_ALL=0.6953;ExAC_AFR=0.2792;ExAC_AMR=0.7421;ExAC_EAS=0.6592;ExAC_FIN=0.7857;ExAC_NFE=0.7349;ExAC_OTH=0.7116;ExAC_SAS=0.6798;CLNALLELEID=99320;CLNDN=Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6777;gnomAD_exome_AFR=0.2338;gnomAD_exome_AMR=0.7052;gnomAD_exome_ASJ=0.6642;gnomAD_exome_EAS=0.6223;gnomAD_exome_FIN=0.7618;gnomAD_exome_NFE=0.7229;gnomAD_exome_OTH=0.6807;gnomAD_exome_SAS=0.6643;gnomAD_genome_ALL=0.5917;gnomAD_genome_AFR=0.2333;gnomAD_genome_AMR=0.6897;gnomAD_genome_ASJ=0.6589;gnomAD_genome_EAS=0.6258;gnomAD_genome_FIN=0.7738;gnomAD_genome_NFE=0.7396;gnomAD_genome_OTH=0.7072;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1011:17:399:903:24999:-1783.66,-252.019,0 +chr12 2791130 . CGA TGG 24042.8 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1110;CIGAR=1X1M1X;DP=1205;DPB=1207.33;DPRA=0;EPP=3.292;EPPR=4.09604;GTI=0;LEN=3;MEANALT=17;MQM=33.5306;MQMR=32.375;NS=1;NUMALT=1;ODDS=1475.29;PAIRED=0.918018;PAIREDR=1;PAO=2;PQA=53;PQR=23;PRO=1;QA=31146;QR=223;RO=8;RPL=628;RPP=44.7104;RPPR=12.7819;RPR=482;RUN=1;SAF=621;SAP=37.0965;SAR=489;SRF=6;SRP=7.35324;SRR=2;TYPE=complex;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.5459_5461TGG,CACNA1C:NM_001167624:exon43:c.5459_5461TGG,CACNA1C:NM_199460:exon45:c.5603_5605TGG;cytoBand=12p13.33;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs71441836;Kaviar_AF=0.0007827;Kaviar_AC=121;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 1/1:1205:8:223:1110:31146:-2413.63,-318.802,0 +chr12 2791205 . A G 19085.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=908;CIGAR=1X;DP=942;DPB=942;DPRA=0;EPP=3.62252;EPPR=9.52472;GTI=0;LEN=1;MEANALT=3;MQM=31.9394;MQMR=18.3333;NS=1;NUMALT=1;ODDS=1243.88;PAIRED=0.944934;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=25603;QR=64;RO=3;RPL=497;RPP=20.6978;RPPR=3.73412;RPR=411;RUN=1;SAF=485;SAP=12.2032;SAR=423;SRF=2;SRP=3.73412;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.A5534G:p.K1845R,CACNA1C:NM_001167624:exon43:c.A5534G:p.K1845R,CACNA1C:NM_199460:exon45:c.A5678G:p.K1893R;cytoBand=12p13.33;esp6500siv2_all=0.9998;esp6500siv2_ea=1;esp6500siv2_all=0.9998;esp6500siv2_ea=1;1000g2015aug_all=1;avsnp147=rs10774054;Kaviar_AF=0.928746;Kaviar_AC=143586;Kaviar_AN=154602;ExAC_ALL=0.9999;ExAC_AFR=0.9988;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=140343;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9999;gnomAD_exome_AFR=0.9988;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9995;gnomAD_genome_AFR=0.9984;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:942:3:64:908:25603:-1914.24,-270.315,0 +chr12 2795019 . C T 149.262 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=12;CIGAR=1X;DP=17;DPB=17;DPRA=0;EPP=5.9056;EPPR=6.91895;GTI=0;LEN=1;MEANALT=1;MQM=20.8333;MQMR=9;NS=1;NUMALT=1;ODDS=14.8703;PAIRED=1;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=338;QR=150;RO=5;RPL=8;RPP=5.9056;RPPR=3.44459;RPR=4;RUN=1;SAF=4;SAP=5.9056;SAR=8;SRF=1;SRP=6.91895;SRR=4;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p13.33;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=rs66611965;Kaviar_AF=0.017613;Kaviar_AC=2723;Kaviar_AN=154602;ExAC_ALL=0.0216;ExAC_AFR=0.0812;ExAC_AMR=0.0100;ExAC_EAS=0.0186;ExAC_FIN=0.0316;ExAC_NFE=0.0166;ExAC_OTH=0.0262;ExAC_SAS=0.0118;CLNALLELEID=99325;CLNDN=Brugada_syndrome|Timothy_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0076;gnomAD_exome_AFR=0.0302;gnomAD_exome_AMR=0.0040;gnomAD_exome_ASJ=0.0026;gnomAD_exome_EAS=0.0047;gnomAD_exome_FIN=0.0134;gnomAD_exome_NFE=0.0070;gnomAD_exome_OTH=0.0068;gnomAD_exome_SAS=0.0015;gnomAD_genome_ALL=0.0044;gnomAD_genome_AFR=0.0080;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0.0013;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0039;gnomAD_genome_OTH=0.0020;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:17:5:150:12:338:-15.562,-1.0146,0 +chr12 5153946 . G C 5964.14 . AB=0.46412;ABP=12.6713;AC=1;AF=0.5;AN=2;AO=401;CIGAR=1X;DP=864;DPB=864;DPRA=0;EPP=5.87491;EPPR=3.13014;GTI=0;LEN=1;MEANALT=3;MQM=31.4389;MQMR=32.8565;NS=1;NUMALT=1;ODDS=1373.29;PAIRED=0.925187;PAIREDR=0.9117;PAO=0;PQA=0;PQR=0;PRO=0;QA=11647;QR=14181;RO=453;RPL=189;RPP=5.87491;RPPR=17.5108;RPR=212;RUN=1;SAF=233;SAP=25.8893;SAR=168;SRF=263;SRP=28.5551;SRR=190;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNA5:NM_002234:exon1:c.G633C:p.E211D;cytoBand=12p13.32;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0015;esp6500siv2_all=0.0012;esp6500siv2_ea=0.0015;1000g2015aug_all=0.000399361;avsnp147=rs35853292;Kaviar_AF=0.0008344;Kaviar_AC=129;Kaviar_AN=154602;ExAC_ALL=0.0008;ExAC_AFR=0.0003;ExAC_AMR=0.0004;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0014;ExAC_OTH=0.0011;ExAC_SAS=0;CLNALLELEID=189348;CLNDN=Primary_pulmonary_hypertension|Atrial_fibrillation,_familial,_7|not_specified;CLNDISDB=MedGen:C0152171,OMIM:178600,SNOMED_CT:26174007|MedGen:C2677106,OMIM:612240|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.157;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.017;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=U;MutationTaster_score=0.800;MutationTaster_pred=D;MutationAssessor_score=1.055;MutationAssessor_pred=L;FATHMM_score=-1.12;FATHMM_pred=T;PROVEAN_score=-1.23;PROVEAN_pred=N;VEST3_score=0.145;CADD_raw=1.435;CADD_phred=12.97;DANN_score=0.984;fathmm-MKL_coding_score=0.922;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.632;MetaSVM_pred=T;MetaLR_score=0.264;MetaLR_pred=T;integrated_fitCons_score=0.549;integrated_confidence_value=0;GERP++_RS=2.84;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=0.974;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=0.753;SiPhy_29way_logOdds=9.598;hgmdPRO=id:CM102357#"Pulmonary_arterial_hypertension";gnomAD_exome_ALL=0.0009;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0005;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=8.974e-05;gnomAD_exome_NFE=0.0017;gnomAD_exome_OTH=0.0011;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0013;gnomAD_genome_AFR=0.0007;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0021;gnomAD_genome_OTH=0.0010;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:864:453:14181:401:11647:-607.729,0,-800.05 +chr12 22017422 . A G 25969.8 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1025;CIGAR=1X;DP=1072;DPB=1072;DPRA=0;EPP=3.06326;EPPR=9.52472;GTI=0;LEN=1;MEANALT=3;MQM=40.0234;MQMR=11.6667;NS=1;NUMALT=1;ODDS=1411.86;PAIRED=0.97561;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=30413;QR=71;RO=3;RPL=634;RPP=128.106;RPPR=9.52472;RPR=391;RUN=1;SAF=476;SAP=14.2998;SAR=549;SRF=3;SRP=9.52472;SRR=0;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;esp6500siv2_all=0.9981;esp6500siv2_ea=1;esp6500siv2_all=0.9981;esp6500siv2_ea=1;1000g2015aug_all=0.998203;avsnp147=rs697250;Kaviar_AF=0.941288;Kaviar_AC=145525;Kaviar_AN=154602;ExAC_ALL=0.9995;ExAC_AFR=0.9945;ExAC_AMR=0.9999;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=54569;CLNDN=Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9996;gnomAD_exome_AFR=0.9941;gnomAD_exome_AMR=0.9997;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=0.9998;gnomAD_exome_SAS=1;gnomAD_genome_ALL=0.9986;gnomAD_genome_AFR=0.9952;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1072:3:71:1025:30413:-2612.83,-307.253,0 +chr12 22017486 . C G 16440.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=626;CIGAR=1X;DP=642;DPB=642;DPRA=0;EPP=9.72591;EPPR=5.18177;GTI=0;LEN=1;MEANALT=2;MQM=40.1358;MQMR=24;NS=1;NUMALT=1;ODDS=866.633;PAIRED=0.988818;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=19612;QR=14;RO=1;RPL=434;RPP=206.157;RPPR=5.18177;RPR=192;RUN=1;SAF=191;SAP=209.529;SAR=435;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;esp6500siv2_all=0.9980;esp6500siv2_ea=1;esp6500siv2_all=0.9980;esp6500siv2_ea=1;1000g2015aug_all=0.998203;avsnp147=rs697251;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.9986;gnomAD_genome_AFR=0.9952;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:642:1:14:626:19612:-1690.31,-187.522,0 +chr12 22063115 . A G 4898.94 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=224;CIGAR=1X;DP=241;DPB=241;DPRA=0;EPP=3.16541;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=37.817;MQMR=3;NS=1;NUMALT=1;ODDS=312.611;PAIRED=0.941964;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6272;QR=14;RO=1;RPL=55;RPP=128.994;RPPR=5.18177;RPR=169;RUN=1;SAF=163;SAP=103.867;SAR=61;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon8:c.T1296C:p.P432P,ABCC9:NM_020297:exon8:c.T1296C:p.P432P;cytoBand=12p12.1;esp6500siv2_all=0.9965;esp6500siv2_ea=1;esp6500siv2_all=0.9965;esp6500siv2_ea=1;1000g2015aug_all=0.997204;avsnp147=rs10770865;Kaviar_AF=0.941314;Kaviar_AC=145529;Kaviar_AN=154602;ExAC_ALL=0.9990;ExAC_AFR=0.9899;ExAC_AMR=0.9985;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1.0000;ExAC_OTH=0.9989;ExAC_SAS=1;CLNALLELEID=54553;CLNDN=Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9993;gnomAD_exome_AFR=0.9903;gnomAD_exome_AMR=0.9993;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=0.9989;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=0.9973;gnomAD_genome_AFR=0.9905;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:241:1:14:224:6272:-516.387,-67.4827,0 +chr12 22063251 . CAAAAAAAAAAAAAAG CAAAAAAAAAAAAAG 513.186 . AB=0.247492;ABP=168.601;AC=1;AF=0.5;AN=2;AO=74;CIGAR=1M1D14M;DP=299;DPB=319.062;DPRA=0;EPP=4.88833;EPPR=3.0471;GTI=0;LEN=1;MEANALT=53;MQM=29.9054;MQMR=28.8814;NS=1;NUMALT=1;ODDS=115.233;PAIRED=0.945946;PAIREDR=0.915254;PAO=25.5;PQA=547.5;PQR=554.5;PRO=25.5;QA=1568;QR=1823;RO=59;RPL=23;RPP=26.0162;RPPR=3.0471;RPR=51;RUN=1;SAF=52;SAP=29.4201;SAR=22;SRF=35;SRP=7.46366;SRR=24;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.375799;avsnp147=rs35857705;Kaviar_AF=0.0001164;Kaviar_AC=18;Kaviar_AN=154602;ExAC_ALL=0.4407;ExAC_AFR=0.4100;ExAC_AMR=0.4601;ExAC_EAS=0.3995;ExAC_FIN=0.4598;ExAC_NFE=0.4473;ExAC_OTH=0.4098;ExAC_SAS=0.4289;CLNALLELEID=44291;CLNDN=Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4361;gnomAD_exome_AFR=0.4041;gnomAD_exome_AMR=0.4520;gnomAD_exome_ASJ=0.4030;gnomAD_exome_EAS=0.3864;gnomAD_exome_FIN=0.4530;gnomAD_exome_NFE=0.4459;gnomAD_exome_OTH=0.4387;gnomAD_exome_SAS=0.4215;gnomAD_genome_ALL=0.4205;gnomAD_genome_AFR=0.3644;gnomAD_genome_AMR=0.5097;gnomAD_genome_ASJ=0.3495;gnomAD_genome_EAS=0.2597;gnomAD_genome_FIN=0.4432;gnomAD_genome_NFE=0.4674;gnomAD_genome_OTH=0.4213;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:299:59:1823:74:1568:-63.1385,0,-56.9749 +chr12 22068849 . G T 4184.39 . AB=0.471624;ABP=6.58409;AC=1;AF=0.5;AN=2;AO=241;CIGAR=1X;DP=511;DPB=511;DPRA=0;EPP=3.4518;EPPR=3.21211;GTI=0;LEN=1;MEANALT=2;MQM=40.4149;MQMR=40.7398;NS=1;NUMALT=1;ODDS=963.49;PAIRED=0.979253;PAIREDR=0.95539;PAO=0;PQA=0;PQR=0;PRO=0;QA=7080;QR=7989;RO=269;RPL=199;RPP=225.104;RPPR=342.252;RPR=42;RUN=1;SAF=75;SAP=77.6243;SAR=166;SRF=100;SRP=41.4429;SRR=169;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p12.1;esp6500siv2_all=0.5879;esp6500siv2_ea=0.5925;esp6500siv2_all=0.5879;esp6500siv2_ea=0.5925;1000g2015aug_all=0.644768;avsnp147=rs3759236;Kaviar_AF=0.600891;Kaviar_AC=92899;Kaviar_AN=154602;ExAC_ALL=0.6138;ExAC_AFR=0.5909;ExAC_AMR=0.5394;ExAC_EAS=0.7864;ExAC_FIN=0.5943;ExAC_NFE=0.6025;ExAC_OTH=0.6528;ExAC_SAS=0.6397;CLNALLELEID=54586;CLNDN=Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6099;gnomAD_exome_AFR=0.5824;gnomAD_exome_AMR=0.5415;gnomAD_exome_ASJ=0.7059;gnomAD_exome_EAS=0.7896;gnomAD_exome_FIN=0.5925;gnomAD_exome_NFE=0.5915;gnomAD_exome_OTH=0.6214;gnomAD_exome_SAS=0.6432;gnomAD_genome_ALL=0.5992;gnomAD_genome_AFR=0.5788;gnomAD_genome_AMR=0.5538;gnomAD_genome_ASJ=0.7467;gnomAD_genome_EAS=0.8065;gnomAD_genome_FIN=0.5870;gnomAD_genome_NFE=0.5917;gnomAD_genome_OTH=0.5902;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:511:269:7989:241:7080:-457.764,0,-539.936 +chr12 32945486 . G T 13180.3 . AB=0.494691;ABP=3.40228;AC=1;AF=0.5;AN=2;AO=792;CIGAR=1X;DP=1601;DPB=1601;DPRA=0;EPP=246.489;EPPR=166.552;GTI=0;LEN=1;MEANALT=3;MQM=37.8788;MQMR=38.7804;NS=1;NUMALT=1;ODDS=3034.87;PAIRED=0.984848;PAIREDR=0.977415;PAO=0;PQA=0;PQR=0;PRO=0;QA=21839;QR=23065;RO=797;RPL=426;RPP=12.8806;RPPR=73.6336;RPR=366;RUN=1;SAF=341;SAP=36.1856;SAR=451;SRF=369;SRP=12.4945;SRR=428;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;esp6500siv2_all=0.0381;esp6500siv2_ea=0.0283;esp6500siv2_all=0.0381;esp6500siv2_ea=0.0283;1000g2015aug_all=0.0339457;avsnp147=rs113493546;Kaviar_AF=0.0054851;Kaviar_AC=848;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.0395;gnomAD_genome_AFR=0.0612;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0762;gnomAD_genome_EAS=0.0074;gnomAD_genome_FIN=0.0644;gnomAD_genome_NFE=0.0253;gnomAD_genome_OTH=0.0347;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1601:797:23065:792:21839:-1355.61,0,-1466.44 +chr12 32945495 . C T 36420.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1543;CIGAR=1X;DP=1607;DPB=1607;DPRA=0;EPP=427.174;EPPR=12.2676;GTI=0;LEN=1;MEANALT=3;MQM=38.4388;MQMR=40.5263;NS=1;NUMALT=1;ODDS=1974.01;PAIRED=0.979909;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=44319;QR=510;RO=19;RPL=952;RPP=186.412;RPPR=3.12459;RPR=591;RUN=1;SAF=675;SAP=55.431;SAR=868;SRF=7;SRP=5.8675;SRR=12;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.450479;avsnp147=rs7956824;Kaviar_AF=0.115354;Kaviar_AC=17834;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.6077;gnomAD_genome_AFR=0.5602;gnomAD_genome_AMR=0.4749;gnomAD_genome_ASJ=0.5728;gnomAD_genome_EAS=0.2272;gnomAD_genome_FIN=0.7165;gnomAD_genome_NFE=0.6571;gnomAD_genome_OTH=0.6337;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1607:19:510:1543:44319:-3710.76,-425.214,0 +chr12 32949029 . AC AGC 4629.27 . AB=0.434728;ABP=32.2082;AC=1;AF=0.5;AN=2;AO=343;CIGAR=1M1I1M;DP=789;DPB=977.5;DPRA=0;EPP=20.7936;EPPR=22.0333;GTI=0;LEN=1;MEANALT=15;MQM=35.4257;MQMR=35.4453;NS=1;NUMALT=1;ODDS=1065.93;PAIRED=0.965015;PAIREDR=0.979167;PAO=6.5;PQA=96.5;PQR=96.5;PRO=6.5;QA=8598;QR=11179;RO=384;RPL=158;RPP=7.62547;RPPR=37.4146;RPR=185;RUN=1;SAF=195;SAP=16.9951;SAR=148;SRF=248;SRP=73.9451;SRR=136;TYPE=ins;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;esp6500siv2_all=0.1903;esp6500siv2_ea=0.1393;esp6500siv2_all=0.1903;esp6500siv2_ea=0.1393;1000g2015aug_all=0.318291;avsnp147=rs149968852;Kaviar_AF=0.0059637;Kaviar_AC=922;Kaviar_AN=154602;ExAC_ALL=0.2108;ExAC_AFR=0.2881;ExAC_AMR=0.1566;ExAC_EAS=0.5462;ExAC_FIN=0.1839;ExAC_NFE=0.1396;ExAC_OTH=0.2081;ExAC_SAS=0.3236;CLNALLELEID=54237;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2097;gnomAD_exome_AFR=0.2891;gnomAD_exome_AMR=0.1636;gnomAD_exome_ASJ=0.1568;gnomAD_exome_EAS=0.5532;gnomAD_exome_FIN=0.1761;gnomAD_exome_NFE=0.1401;gnomAD_exome_OTH=0.1745;gnomAD_exome_SAS=0.3283;gnomAD_genome_ALL=0.2044;gnomAD_genome_AFR=0.2708;gnomAD_genome_AMR=0.1706;gnomAD_genome_ASJ=0.1733;gnomAD_genome_EAS=0.5513;gnomAD_genome_FIN=0.1713;gnomAD_genome_NFE=0.1401;gnomAD_genome_OTH=0.1892;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:789:384:11179:343:8598:-474.696,0,-676.622 +chr12 32949252 . ACA AA 210.814 . AB=0.218716;ABP=634.578;AC=1;AF=0.5;AN=2;AO=201;CIGAR=1M1D1M;DP=919;DPB=856.333;DPRA=0;EPP=145.885;EPPR=349.766;GTI=0;LEN=1;MEANALT=21;MQM=22.0249;MQMR=37.7671;NS=1;NUMALT=1;ODDS=48.5418;PAIRED=0.905473;PAIREDR=0.973896;PAO=1;PQA=27;PQR=27;PRO=1;QA=4993;QR=14448;RO=498;RPL=68;RPP=48.6544;RPPR=57.707;RPR=133;RUN=1;SAF=95;SAP=4.3175;SAR=106;SRF=227;SRP=11.452;SRR=271;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12p11.21;esp6500siv2_all=0.1657;esp6500siv2_ea=0.1207;esp6500siv2_all=0.1657;esp6500siv2_ea=0.1207;1000g2015aug_all=0.304912;avsnp147=rs57690055;Kaviar_AF=0.000304;Kaviar_AC=47;Kaviar_AN=154602;ExAC_ALL=0.1614;ExAC_AFR=0.2267;ExAC_AMR=0.1272;ExAC_EAS=0.3931;ExAC_FIN=0.1512;ExAC_NFE=0.1115;ExAC_OTH=0.1579;ExAC_SAS=0.2421;CLNALLELEID=186422;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1336;gnomAD_exome_AFR=0.2022;gnomAD_exome_AMR=0.1074;gnomAD_exome_ASJ=0.0982;gnomAD_exome_EAS=0.3656;gnomAD_exome_FIN=0.1244;gnomAD_exome_NFE=0.0915;gnomAD_exome_OTH=0.1087;gnomAD_exome_SAS=0.1936;gnomAD_genome_ALL=0.1788;gnomAD_genome_AFR=0.2456;gnomAD_genome_AMR=0.1359;gnomAD_genome_ASJ=0.1510;gnomAD_genome_EAS=0.5310;gnomAD_genome_FIN=0.1168;gnomAD_genome_NFE=0.1204;gnomAD_genome_OTH=0.1546;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:919:498:14448:201:4993:-76.4619,0,-1000.26 +chr12 33021934 . A G 9631.3 . AB=0.474765;ABP=9.47642;AC=1;AF=0.5;AN=2;AO=555;CIGAR=1X;DP=1169;DPB=1169;DPRA=0;EPP=5.86256;EPPR=3.04337;GTI=0;LEN=1;MEANALT=3;MQM=37.4649;MQMR=38.8511;NS=1;NUMALT=1;ODDS=2217.69;PAIRED=0.920721;PAIREDR=0.949239;PAO=0;PQA=0;PQR=0;PRO=0;QA=15970;QR=18179;RO=591;RPL=344;RPP=72.2196;RPPR=131.495;RPR=211;RUN=1;SAF=248;SAP=16.6299;SAR=307;SRF=274;SRP=9.80396;SRR=317;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon4:c.T1097C:p.L366P,PKP2:NM_004572:exon4:c.T1097C:p.L366P;cytoBand=12p11.21;esp6500siv2_all=0.2201;esp6500siv2_ea=0.2301;esp6500siv2_all=0.2201;esp6500siv2_ea=0.2301;1000g2015aug_all=0.151358;avsnp147=rs1046116;Kaviar_AF=0.183161;Kaviar_AC=28317;Kaviar_AN=154602;ExAC_ALL=0.1800;ExAC_AFR=0.1981;ExAC_AMR=0.1187;ExAC_EAS=0.0297;ExAC_FIN=0.1921;ExAC_NFE=0.2099;ExAC_OTH=0.2070;ExAC_SAS=0.1633;CLNALLELEID=54173;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.413;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.148;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.78;MutationAssessor_pred=N;FATHMM_score=0.83;FATHMM_pred=T;PROVEAN_score=1.04;PROVEAN_pred=N;VEST3_score=0.114;CADD_raw=0.112;CADD_phred=3.732;DANN_score=0.241;fathmm-MKL_coding_score=0.007;fathmm-MKL_coding_pred=N;MetaSVM_score=-1.029;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.732;integrated_confidence_value=0;GERP++_RS=4.19;phyloP7way_vertebrate=0.024;phyloP20way_mammalian=0.065;phastCons7way_vertebrate=0.157;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=4.800;hgmdPRO=id:CM150226#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.1805;gnomAD_exome_AFR=0.1983;gnomAD_exome_AMR=0.1262;gnomAD_exome_ASJ=0.1695;gnomAD_exome_EAS=0.0296;gnomAD_exome_FIN=0.1937;gnomAD_exome_NFE=0.2200;gnomAD_exome_OTH=0.1918;gnomAD_exome_SAS=0.1638;gnomAD_genome_ALL=0.1976;gnomAD_genome_AFR=0.1977;gnomAD_genome_AMR=0.1599;gnomAD_genome_ASJ=0.2086;gnomAD_genome_EAS=0.0308;gnomAD_genome_FIN=0.1875;gnomAD_genome_NFE=0.2192;gnomAD_genome_OTH=0.2088;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1169:591:18179:555:15970:-980.037,0,-1192.88 +chr12 33030802 . T C 5676.66 . AB=0.500697;ABP=3.01333;AC=1;AF=0.5;AN=2;AO=359;CIGAR=1X;DP=717;DPB=717;DPRA=0;EPP=9.5973;EPPR=4.47751;GTI=0;LEN=1;MEANALT=3;MQM=33.1838;MQMR=35.3754;NS=1;NUMALT=1;ODDS=1244.45;PAIRED=0.89415;PAIREDR=0.927928;PAO=0;PQA=0;PQR=0;PRO=0;QA=10292;QR=9820;RO=333;RPL=161;RPP=11.2909;RPPR=5.88603;RPR=198;RUN=1;SAF=219;SAP=40.76;SAR=140;SRF=230;SRP=108.187;SRR=103;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon3:c.A1012G:p.T338A,PKP2:NM_004572:exon3:c.A1012G:p.T338A;cytoBand=12p11.21;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0022;esp6500siv2_all=0.0015;esp6500siv2_ea=0.0022;1000g2015aug_all=0.000998403;avsnp147=rs139851304;Kaviar_AF=0.0016365;Kaviar_AC=253;Kaviar_AN=154602;ExAC_ALL=0.0018;ExAC_AFR=0.0001;ExAC_AMR=0.0005;ExAC_EAS=0.0001;ExAC_FIN=0;ExAC_NFE=0.0029;ExAC_OTH=0.0023;ExAC_SAS=0.0010;CLNALLELEID=54170;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=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;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.444;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=1.5;MutationAssessor_pred=L;FATHMM_score=-1.25;FATHMM_pred=T;PROVEAN_score=-0.33;PROVEAN_pred=N;VEST3_score=0.04;CADD_raw=-1.051;CADD_phred=0.012;DANN_score=0.873;fathmm-MKL_coding_score=0.023;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.823;MetaSVM_pred=T;MetaLR_score=0.322;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=-8.09;phyloP7way_vertebrate=-0.417;phyloP20way_mammalian=-0.700;phastCons7way_vertebrate=0.005;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=8.742;hgmdPRO=.;gnomAD_exome_ALL=0.0022;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0007;gnomAD_exome_ASJ=0.0361;gnomAD_exome_EAS=5.799e-05;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0.0010;gnomAD_exome_OTH=0.0033;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0010;gnomAD_genome_AFR=0;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0530;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0.0007;gnomAD_genome_OTH=0.0020;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:717:333:9820:359:10292:-580.805,0,-559.455 +chr12 33049590 . C T 1738.47 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=134;CIGAR=1X;DP=198;DPB=198;DPRA=0;EPP=4.04742;EPPR=8.84915;GTI=0;LEN=1;MEANALT=2;MQM=24.6567;MQMR=13.4667;NS=1;NUMALT=1;ODDS=55.4282;PAIRED=0.813433;PAIREDR=0.711111;PAO=0;PQA=0;PQR=0;PRO=0;QA=3348;QR=1220;RO=45;RPL=72;RPP=4.6308;RPPR=3.44459;RPR=62;RUN=1;SAF=53;SAP=15.715;SAR=81;SRF=11;SRP=28.5372;SRR=34;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon1:c.G76A:p.D26N,PKP2:NM_004572:exon1:c.G76A:p.D26N;cytoBand=12p11.21;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0068;esp6500siv2_all=0.0049;esp6500siv2_ea=0.0068;1000g2015aug_all=0.00299521;avsnp147=rs143004808;Kaviar_AF=0.0058925;Kaviar_AC=911;Kaviar_AN=154602;ExAC_ALL=0.0140;ExAC_AFR=0.0032;ExAC_AMR=0.0156;ExAC_EAS=0;ExAC_FIN=0.0065;ExAC_NFE=0.0231;ExAC_OTH=0.0041;ExAC_SAS=0.0047;CLNALLELEID=54251;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Dysplasia,_arrhythmogenic_right_ventricular|Cardiomyopathy,_ARVC|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN232456|MedGen:CN239181|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.003;SIFT_pred=D;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.874;Polyphen2_HVAR_pred=P;LRT_score=0.004;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_pred=L;FATHMM_score=-1.72;FATHMM_pred=D;PROVEAN_score=-1.04;PROVEAN_pred=N;VEST3_score=0.042;CADD_raw=6.871;CADD_phred=33;DANN_score=0.999;fathmm-MKL_coding_score=0.750;fathmm-MKL_coding_pred=D;MetaSVM_score=0.033;MetaSVM_pred=D;MetaLR_score=0.451;MetaLR_pred=T;integrated_fitCons_score=0.726;integrated_confidence_value=0;GERP++_RS=4.07;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.822;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.999;SiPhy_29way_logOdds=15.410;hgmdPRO=id:CM061172#"Arrhythmogenic_right_ventricular_dysplasia";gnomAD_exome_ALL=0.0084;gnomAD_exome_AFR=0.0012;gnomAD_exome_AMR=0.0055;gnomAD_exome_ASJ=0.0448;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0026;gnomAD_exome_NFE=0.0097;gnomAD_exome_OTH=0.0103;gnomAD_exome_SAS=0.0040;gnomAD_genome_ALL=0.0056;gnomAD_genome_AFR=0.0017;gnomAD_genome_AMR=0.0084;gnomAD_genome_ASJ=0.0563;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0026;gnomAD_genome_NFE=0.0077;gnomAD_genome_OTH=0.0082;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 1/1:198:45:1220:134:3348:-172.856,-4.845,0 +chr12 111350999 . G A 9068.6 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=626;CIGAR=1X;DP=1252;DPB=1252;DPRA=0;EPP=3.02418;EPPR=82.4458;GTI=0;LEN=1;MEANALT=3;MQM=31.5224;MQMR=31.0519;NS=1;NUMALT=1;ODDS=1631.68;PAIRED=0.9377;PAIREDR=0.926655;PAO=0;PQA=0;PQR=0;PRO=0;QA=17174;QR=15376;RO=559;RPL=350;RPP=22.0055;RPPR=121.975;RPR=276;RUN=1;SAF=358;SAP=31.1076;SAR=268;SRF=291;SRP=5.06524;SRR=268;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.14996;avsnp147=rs2233260;Kaviar_AF=0.199583;Kaviar_AC=30856;Kaviar_AN=154602;ExAC_ALL=0.2047;ExAC_AFR=0.1612;ExAC_AMR=0.3360;ExAC_EAS=0.0029;ExAC_FIN=0.2741;ExAC_NFE=0.2259;ExAC_OTH=0.2190;ExAC_SAS=0.1245;CLNALLELEID=40434;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2106;gnomAD_exome_AFR=0.1584;gnomAD_exome_AMR=0.3238;gnomAD_exome_ASJ=0.1132;gnomAD_exome_EAS=0.0030;gnomAD_exome_FIN=0.2667;gnomAD_exome_NFE=0.2342;gnomAD_exome_OTH=0.2286;gnomAD_exome_SAS=0.1245;gnomAD_genome_ALL=0.2083;gnomAD_genome_AFR=0.1610;gnomAD_genome_AMR=0.3014;gnomAD_genome_ASJ=0.1325;gnomAD_genome_EAS=0.0037;gnomAD_genome_FIN=0.2712;gnomAD_genome_NFE=0.2366;gnomAD_genome_OTH=0.2485;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1252:559:15376:626:17174:-920.524,0,-737.801 +chr12 111351029 . TCCCCCA TCCCCA 60.7602 . AB=0.590909;ABP=6.16881;AC=1;AF=0.5;AN=2;AO=26;CIGAR=1M1D5M;DP=44;DPB=96.7143;DPRA=0;EPP=30.0702;EPPR=23.2217;GTI=0;LEN=1;MEANALT=5;MQM=35.4615;MQMR=30.2308;NS=1;NUMALT=1;ODDS=4.42335;PAIRED=0.769231;PAIREDR=0.615385;PAO=47.5;PQA=1405;PQR=1650;PRO=54.5;QA=705;QR=413;RO=13;RPL=0;RPP=59.4686;RPPR=31.2394;RPR=26;RUN=1;SAF=22;SAP=30.0702;SAR=4;SRF=12;SRP=23.2217;SRR=1;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=12q24.11;esp6500siv2_all=0.2806;esp6500siv2_ea=0.3138;esp6500siv2_all=0.2806;esp6500siv2_ea=0.3138;1000g2015aug_all=0.252596;avsnp147=rs3833910;Kaviar_AF=0.0086157;Kaviar_AC=1332;Kaviar_AN=154602;ExAC_ALL=0.2888;ExAC_AFR=0.2250;ExAC_AMR=0.3635;ExAC_EAS=0.2273;ExAC_FIN=0.3468;ExAC_NFE=0.2953;ExAC_OTH=0.2947;ExAC_SAS=0.2590;CLNALLELEID=40432;CLNDN=Familial_hypertrophic_cardiomyopathy_10|not_specified|not_provided;CLNDISDB=MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2873;gnomAD_exome_AFR=0.2138;gnomAD_exome_AMR=0.3519;gnomAD_exome_ASJ=0.1434;gnomAD_exome_EAS=0.2073;gnomAD_exome_FIN=0.3335;gnomAD_exome_NFE=0.3028;gnomAD_exome_OTH=0.2897;gnomAD_exome_SAS=0.2482;gnomAD_genome_ALL=0.2850;gnomAD_genome_AFR=0.2264;gnomAD_genome_AMR=0.3401;gnomAD_genome_ASJ=0.1767;gnomAD_genome_EAS=0.2466;gnomAD_genome_FIN=0.3338;gnomAD_genome_NFE=0.3084;gnomAD_genome_OTH=0.3258;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:44:13:413:26:705:-23.1113,0,-11.4217 +chr14 23855249 . T G 134.144 . AB=0.4;ABP=19.0792;AC=1;AF=0.5;AN=2;AO=74;CIGAR=1X;DP=185;DPB=185;DPRA=0;EPP=163.699;EPPR=176.75;GTI=0;LEN=1;MEANALT=3;MQM=33.5;MQMR=28.3737;NS=1;NUMALT=1;ODDS=30.8877;PAIRED=0.986486;PAIREDR=0.989899;PAO=0;PQA=0;PQR=0;PRO=0;QA=1251;QR=2061;RO=99;RPL=60;RPP=65.1027;RPPR=3.55865;RPR=14;RUN=1;SAF=60;SAP=65.1027;SAR=14;SRF=44;SRP=5.66432;SRR=55;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon34:c.A5051C:p.Q1684P;cytoBand=14q11.2;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.013;SIFT_pred=D;Polyphen2_HDIV_score=0.744;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.742;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.48;MutationAssessor_pred=M;FATHMM_score=-1.23;FATHMM_pred=T;PROVEAN_score=-2.47;PROVEAN_pred=N;VEST3_score=0.679;CADD_raw=3.293;CADD_phred=22.8;DANN_score=0.993;fathmm-MKL_coding_score=0.862;fathmm-MKL_coding_pred=D;MetaSVM_score=0.499;MetaSVM_pred=D;MetaLR_score=0.652;MetaLR_pred=D;integrated_fitCons_score=0.497;integrated_confidence_value=0;GERP++_RS=4.2;phyloP7way_vertebrate=0.991;phyloP20way_mammalian=0.964;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=13.569;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=7 GT:DP:RO:QR:AO:QA:GL 0/1:185:99:2061:74:1251:-54.9255,0,-89.6402 +chr14 23855569 . A G 1192.92 . AB=0.452381;ABP=10.4553;AC=1;AF=0.5;AN=2;AO=171;CIGAR=1X;DP=378;DPB=378;DPRA=0;EPP=132.549;EPPR=89.0884;GTI=0;LEN=1;MEANALT=3;MQM=28;MQMR=31.9213;NS=1;NUMALT=1;ODDS=274.681;PAIRED=0.888889;PAIREDR=0.926966;PAO=0;PQA=0;PQR=0;PRO=0;QA=4297;QR=4157;RO=178;RPL=158;RPP=270;RPPR=215.571;RPR=13;RUN=1;SAF=145;SAP=182.836;SAR=26;SRF=142;SRP=140.081;SRR=36;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon33:c.T4914C:p.A1638A;cytoBand=14q11.2;esp6500siv2_all=0.5532;esp6500siv2_ea=0.4855;esp6500siv2_all=0.5532;esp6500siv2_ea=0.4855;1000g2015aug_all=0.492812;avsnp147=rs178640;Kaviar_AF=0.433811;Kaviar_AC=67068;Kaviar_AN=154602;ExAC_ALL=0.4649;ExAC_AFR=0.7073;ExAC_AMR=0.2632;ExAC_EAS=0.2608;ExAC_FIN=0.4705;ExAC_NFE=0.4821;ExAC_OTH=0.4426;ExAC_SAS=0.4899;CLNALLELEID=53693;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4527;gnomAD_exome_AFR=0.7131;gnomAD_exome_AMR=0.2738;gnomAD_exome_ASJ=0.5493;gnomAD_exome_EAS=0.2596;gnomAD_exome_FIN=0.4703;gnomAD_exome_NFE=0.4772;gnomAD_exome_OTH=0.4670;gnomAD_exome_SAS=0.4917;gnomAD_genome_ALL=0.5120;gnomAD_genome_AFR=0.6970;gnomAD_genome_AMR=0.3501;gnomAD_genome_ASJ=0.5497;gnomAD_genome_EAS=0.2512;gnomAD_genome_FIN=0.4728;gnomAD_genome_NFE=0.4524;gnomAD_genome_OTH=0.4693;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:378:178:4157:171:4297:-190.991,0,-203.522 +chr14 23855844 . T G 50.174 . AB=0.528926;ABP=3.88966;AC=1;AF=0.5;AN=2;AO=64;CIGAR=1X;DP=121;DPB=121;DPRA=0;EPP=4.23175;EPPR=3.99733;GTI=0;LEN=1;MEANALT=2;MQM=19.3594;MQMR=21.1818;NS=1;NUMALT=1;ODDS=10.1275;PAIRED=1;PAIREDR=0.981818;PAO=0;PQA=0;PQR=0;PRO=0;QA=1109;QR=969;RO=55;RPL=29;RPP=4.23175;RPPR=3.99733;RPR=35;RUN=1;SAF=0;SAP=141.985;SAR=64;SRF=0;SRP=122.441;SRR=55;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;esp6500siv2_all=0.0012;esp6500siv2_ea=.;esp6500siv2_all=0.0012;esp6500siv2_ea=.;1000g2015aug_all=0.00419329;avsnp147=rs193922653;Kaviar_AF=0.0011772;Kaviar_AC=182;Kaviar_AN=154602;ExAC_ALL=0.0012;ExAC_AFR=0.0139;ExAC_AMR=0.0003;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0;CLNALLELEID=45292;CLNDN=Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=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;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0010;gnomAD_exome_AFR=0.0136;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0;gnomAD_exome_NFE=0;gnomAD_exome_OTH=0.0007;gnomAD_exome_SAS=0;gnomAD_genome_ALL=0.0036;gnomAD_genome_AFR=0.0124;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0010;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:121:55:969:64:1109:-29.8133,0,-26.373 +chr14 23858275 . G C 1591.48 . AB=0.467153;ABP=6.86189;AC=1;AF=0.5;AN=2;AO=192;CIGAR=1X;DP=411;DPB=411;DPRA=0;EPP=64.9425;EPPR=270.268;GTI=0;LEN=1;MEANALT=3;MQM=24.3594;MQMR=20.2404;NS=1;NUMALT=1;ODDS=235.901;PAIRED=0.9375;PAIREDR=0.846154;PAO=0;PQA=0;PQR=0;PRO=0;QA=4631;QR=5029;RO=208;RPL=97;RPP=3.05554;RPPR=69.8248;RPR=95;RUN=1;SAF=104;SAP=5.9056;SAR=88;SRF=84;SRP=19.7139;SRR=124;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.0279553;avsnp147=rs200618133;Kaviar_AF=0.011203;Kaviar_AC=1732;Kaviar_AN=154602;ExAC_ALL=0.0122;ExAC_AFR=0.0862;ExAC_AMR=0.0086;ExAC_EAS=0.0004;ExAC_FIN=0.0010;ExAC_NFE=0.0073;ExAC_OTH=0.0079;ExAC_SAS=0.0015;CLNALLELEID=328943;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0108;gnomAD_exome_AFR=0.0818;gnomAD_exome_AMR=0.0092;gnomAD_exome_ASJ=0.0113;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0012;gnomAD_exome_NFE=0.0073;gnomAD_exome_OTH=0.0100;gnomAD_exome_SAS=0.0013;gnomAD_genome_ALL=0.0269;gnomAD_genome_AFR=0.0799;gnomAD_genome_AMR=0.0156;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0074;gnomAD_genome_OTH=0.0072;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:411:208:5029:192:4631:-173.021,0,-148.371 +chr14 23861811 . A G 19573.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=900;CIGAR=1X;DP=938;DPB=938;DPRA=0;EPP=4.17807;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=35.57;MQMR=35.3182;NS=1;NUMALT=1;ODDS=1093.5;PAIRED=0.726667;PAIREDR=0.909091;PAO=0;PQA=0;PQR=0;PRO=0;QA=25975;QR=560;RO=22;RPL=736;RPP=792.423;RPPR=34.9902;RPR=164;RUN=1;SAF=577;SAP=158.671;SAR=323;SRF=13;SRP=4.58955;SRR=9;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon25:c.T3302C:p.V1101A;cytoBand=14q11.2;esp6500siv2_all=0.4556;esp6500siv2_ea=0.3737;esp6500siv2_all=0.4556;esp6500siv2_ea=0.3737;1000g2015aug_all=0.3748;avsnp147=rs365990;Kaviar_AF=0.334659;Kaviar_AC=51739;Kaviar_AN=154602;ExAC_ALL=0.3461;ExAC_AFR=0.6294;ExAC_AMR=0.2201;ExAC_EAS=0.1673;ExAC_FIN=0.2713;ExAC_NFE=0.3635;ExAC_OTH=0.3455;ExAC_SAS=0.3092;CLNALLELEID=53647;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-0.935;MutationAssessor_pred=N;FATHMM_score=-0.95;FATHMM_pred=T;PROVEAN_score=1.91;PROVEAN_pred=N;VEST3_score=0.021;CADD_raw=0.873;CADD_phred=9.908;DANN_score=0.808;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.949;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.422;integrated_confidence_value=0;GERP++_RS=4.69;phyloP7way_vertebrate=0.024;phyloP20way_mammalian=0.080;phastCons7way_vertebrate=0.938;phastCons20way_mammalian=0.980;SiPhy_29way_logOdds=9.475;hgmdPRO=id:CM1010480#"Heart_rate_association_with";gnomAD_exome_ALL=0.3362;gnomAD_exome_AFR=0.6296;gnomAD_exome_AMR=0.2336;gnomAD_exome_ASJ=0.4545;gnomAD_exome_EAS=0.1652;gnomAD_exome_FIN=0.2656;gnomAD_exome_NFE=0.3631;gnomAD_exome_OTH=0.3574;gnomAD_exome_SAS=0.3100;gnomAD_genome_ALL=0.4187;gnomAD_genome_AFR=0.6294;gnomAD_genome_AMR=0.2805;gnomAD_genome_ASJ=0.5033;gnomAD_genome_EAS=0.1629;gnomAD_genome_FIN=0.2772;gnomAD_genome_NFE=0.3678;gnomAD_genome_OTH=0.3505;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:938:22:560:900:25975:-2057.22,-233.455,0 +chr14 23865885 . G A 19337 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=852;CIGAR=1X;DP=900;DPB=900;DPRA=0;EPP=180.643;EPPR=5.9056;GTI=0;LEN=1;MEANALT=3;MQM=36.1138;MQMR=39.75;NS=1;NUMALT=1;ODDS=1074.22;PAIRED=0.961268;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=24646;QR=365;RO=12;RPL=321;RPP=115.407;RPPR=9.52472;RPR=531;RUN=1;SAF=489;SAP=43.4731;SAR=363;SRF=7;SRP=3.73412;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;esp6500siv2_all=0.4461;esp6500siv2_ea=0.3628;esp6500siv2_all=0.4461;esp6500siv2_ea=0.3628;1000g2015aug_all=0.367812;avsnp147=rs452036;Kaviar_AF=0.339006;Kaviar_AC=52411;Kaviar_AN=154602;ExAC_ALL=0.3384;ExAC_AFR=0.6223;ExAC_AMR=0.2121;ExAC_EAS=0.1637;ExAC_FIN=0.2711;ExAC_NFE=0.3548;ExAC_OTH=0.3422;ExAC_SAS=0.3001;CLNALLELEID=254920;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3280;gnomAD_exome_AFR=0.6233;gnomAD_exome_AMR=0.2252;gnomAD_exome_ASJ=0.4472;gnomAD_exome_EAS=0.1612;gnomAD_exome_FIN=0.2644;gnomAD_exome_NFE=0.3529;gnomAD_exome_OTH=0.35;gnomAD_exome_SAS=0.3006;gnomAD_genome_ALL=0.4134;gnomAD_genome_AFR=0.6269;gnomAD_genome_AMR=0.2679;gnomAD_genome_ASJ=0.4967;gnomAD_genome_EAS=0.1559;gnomAD_genome_FIN=0.2732;gnomAD_genome_NFE=0.3604;gnomAD_genome_OTH=0.3449;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:900:12:365:852:24646:-1968.93,-228.063,0 +chr14 23866146 . G C 421.242 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=28;CIGAR=1X;DP=38;DPB=38;DPRA=0;EPP=14.1779;EPPR=3.25157;GTI=0;LEN=1;MEANALT=2;MQM=26.4286;MQMR=12;NS=1;NUMALT=1;ODDS=22.8986;PAIRED=0.964286;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=818;QR=257;RO=9;RPL=6;RPP=22.8638;RPPR=3.25157;RPR=22;RUN=1;SAF=24;SAP=34.0313;SAR=4;SRF=8;SRP=14.8328;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0124;esp6500siv2_all=0.0094;esp6500siv2_ea=0.0124;1000g2015aug_all=0.0325479;avsnp147=rs148225043;Kaviar_AF=0.0213257;Kaviar_AC=3297;Kaviar_AN=154602;ExAC_ALL=0.0232;ExAC_AFR=0.0040;ExAC_AMR=0.0393;ExAC_EAS=0.0845;ExAC_FIN=0.0057;ExAC_NFE=0.0144;ExAC_OTH=0.0287;ExAC_SAS=0.0340;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0235;gnomAD_exome_AFR=0.0047;gnomAD_exome_AMR=0.0361;gnomAD_exome_ASJ=0.04;gnomAD_exome_EAS=0.0834;gnomAD_exome_FIN=0.0062;gnomAD_exome_NFE=0.0122;gnomAD_exome_OTH=0.0292;gnomAD_exome_SAS=0.0331;gnomAD_genome_ALL=0.0123;gnomAD_genome_AFR=0.0033;gnomAD_genome_AMR=0.0322;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0777;gnomAD_genome_FIN=0.0077;gnomAD_genome_NFE=0.0097;gnomAD_genome_OTH=0.0163;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:38:9:257:28:818:-48.0582,-1.92862,0 +chr14 23866189 . G A 1040.41 . AB=0.467662;ABP=4.83607;AC=1;AF=0.5;AN=2;AO=94;CIGAR=1X;DP=201;DPB=201;DPRA=0;EPP=3.37991;EPPR=37.1798;GTI=0;LEN=1;MEANALT=3;MQM=31.9149;MQMR=27.8391;NS=1;NUMALT=1;ODDS=147.828;PAIRED=0.968085;PAIREDR=0.931034;PAO=0;PQA=0;PQR=0;PRO=0;QA=2314;QR=2139;RO=87;RPL=8;RPP=143.555;RPPR=150.995;RPR=86;RUN=1;SAF=49;SAP=3.37991;SAR=45;SRF=28;SRP=26.9963;SRR=59;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon18:c.C2151T:p.Y717Y;cytoBand=14q11.2;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0127;esp6500siv2_all=0.0106;esp6500siv2_ea=0.0127;1000g2015aug_all=0.0339457;avsnp147=rs76202964;Kaviar_AF=0.021785;Kaviar_AC=3368;Kaviar_AN=154602;ExAC_ALL=0.0236;ExAC_AFR=0.0075;ExAC_AMR=0.0399;ExAC_EAS=0.0845;ExAC_FIN=0.0059;ExAC_NFE=0.0146;ExAC_OTH=0.0286;ExAC_SAS=0.0340;CLNALLELEID=53628;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0239;gnomAD_exome_AFR=0.0086;gnomAD_exome_AMR=0.0364;gnomAD_exome_ASJ=0.04;gnomAD_exome_EAS=0.0837;gnomAD_exome_FIN=0.0063;gnomAD_exome_NFE=0.0124;gnomAD_exome_OTH=0.0295;gnomAD_exome_SAS=0.0331;gnomAD_genome_ALL=0.0132;gnomAD_genome_AFR=0.0064;gnomAD_genome_AMR=0.0322;gnomAD_genome_ASJ=0.0331;gnomAD_genome_EAS=0.0771;gnomAD_genome_FIN=0.0077;gnomAD_genome_NFE=0.0097;gnomAD_genome_OTH=0.0173;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:201:87:2139:94:2314:-126.822,0,-94.1551 +chr14 23872666 . T C 8696.68 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=469;CIGAR=1X;DP=513;DPB=513;DPRA=0;EPP=20.2385;EPPR=26.6552;GTI=0;LEN=1;MEANALT=3;MQM=28.0405;MQMR=16.7778;NS=1;NUMALT=1;ODDS=573.134;PAIRED=0.921109;PAIREDR=0.444444;PAO=0;PQA=0;PQR=0;PRO=0;QA=12924;QR=379;RO=18;RPL=323;RPP=148.064;RPPR=10.7311;RPR=146;RUN=1;SAF=204;SAP=20.2385;SAR=265;SRF=13;SRP=10.7311;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;esp6500siv2_all=0.8281;esp6500siv2_ea=0.7680;esp6500siv2_all=0.8281;esp6500siv2_ea=0.7680;1000g2015aug_all=0.784944;avsnp147=rs434273;Kaviar_AF=0.0001423;Kaviar_AC=22;Kaviar_AN=154602;ExAC_ALL=0.7565;ExAC_AFR=0.9514;ExAC_AMR=0.7160;ExAC_EAS=0.6850;ExAC_FIN=0.7585;ExAC_NFE=0.7624;ExAC_OTH=0.7941;ExAC_SAS=0.6732;CLNALLELEID=53711;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7528;gnomAD_exome_AFR=0.9536;gnomAD_exome_AMR=0.7207;gnomAD_exome_ASJ=0.8423;gnomAD_exome_EAS=0.6755;gnomAD_exome_FIN=0.7501;gnomAD_exome_NFE=0.7600;gnomAD_exome_OTH=0.7619;gnomAD_exome_SAS=0.6774;gnomAD_genome_ALL=0.8069;gnomAD_genome_AFR=0.9499;gnomAD_genome_AMR=0.7506;gnomAD_genome_ASJ=0.8477;gnomAD_genome_EAS=0.6476;gnomAD_genome_FIN=0.7566;gnomAD_genome_NFE=0.7593;gnomAD_genome_OTH=0.7351;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:513:18:379:469:12924:-886.05,-126.533,0 +chr14 23874541 . C T 4004.91 . AB=0.462428;ABP=11.4954;AC=1;AF=0.5;AN=2;AO=320;CIGAR=1X;DP=692;DPB=692;DPRA=0;EPP=24.2907;EPPR=14.5147;GTI=0;LEN=1;MEANALT=3;MQM=29.7625;MQMR=31.4556;NS=1;NUMALT=1;ODDS=922.166;PAIRED=0.896875;PAIREDR=0.876791;PAO=0;PQA=0;PQR=0;PRO=0;QA=9012;QR=10550;RO=349;RPL=77;RPP=190.001;RPPR=229.994;RPR=243;RUN=1;SAF=135;SAP=19.9749;SAR=185;SRF=135;SRP=41.8417;SRR=214;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon5:c.G393A:p.L131L;cytoBand=14q11.2;esp6500siv2_all=0.0803;esp6500siv2_ea=0.0884;esp6500siv2_all=0.0803;esp6500siv2_ea=0.0884;1000g2015aug_all=0.0571086;avsnp147=rs17277970;Kaviar_AF=0.0691712;Kaviar_AC=10694;Kaviar_AN=154602;ExAC_ALL=0.0699;ExAC_AFR=0.0601;ExAC_AMR=0.0399;ExAC_EAS=0.0146;ExAC_FIN=0.0487;ExAC_NFE=0.0824;ExAC_OTH=0.0870;ExAC_SAS=0.0827;CLNALLELEID=53662;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0683;gnomAD_exome_AFR=0.0563;gnomAD_exome_AMR=0.0418;gnomAD_exome_ASJ=0.1102;gnomAD_exome_EAS=0.0128;gnomAD_exome_FIN=0.0463;gnomAD_exome_NFE=0.0829;gnomAD_exome_OTH=0.0762;gnomAD_exome_SAS=0.0824;gnomAD_genome_ALL=0.0710;gnomAD_genome_AFR=0.0646;gnomAD_genome_AMR=0.0561;gnomAD_genome_ASJ=0.0927;gnomAD_genome_EAS=0.0099;gnomAD_genome_FIN=0.0512;gnomAD_genome_NFE=0.0862;gnomAD_genome_OTH=0.0723;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:692:349:10550:320:9012:-431.734,0,-566.668 +chr14 23876267 . C T 8537 . AB=0.435548;ABP=48.0757;AC=1;AF=0.5;AN=2;AO=544;CIGAR=1X;DP=1249;DPB=1249;DPRA=0;EPP=12.2071;EPPR=3.2772;GTI=0;LEN=1;MEANALT=3;MQM=34.5643;MQMR=36.4932;NS=1;NUMALT=1;ODDS=1965.72;PAIRED=0.895221;PAIREDR=0.925645;PAO=0;PQA=0;PQR=0;PRO=0;QA=15705;QR=19640;RO=659;RPL=183;RPP=129.483;RPPR=175.809;RPR=361;RUN=1;SAF=303;SAP=18.3543;SAR=241;SRF=343;SRP=5.41243;SRR=316;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon3:c.G166A:p.G56R;cytoBand=14q11.2;esp6500siv2_all=0.0802;esp6500siv2_ea=0.0883;esp6500siv2_all=0.0802;esp6500siv2_ea=0.0883;1000g2015aug_all=0.0567093;avsnp147=rs28711516;Kaviar_AF=0.0673342;Kaviar_AC=10410;Kaviar_AN=154602;ExAC_ALL=0.0698;ExAC_AFR=0.0601;ExAC_AMR=0.0396;ExAC_EAS=0.0146;ExAC_FIN=0.0487;ExAC_NFE=0.0824;ExAC_OTH=0.0870;ExAC_SAS=0.0825;CLNALLELEID=53622;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.001;SIFT_pred=D;Polyphen2_HDIV_score=0.975;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.946;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=D;MutationAssessor_score=3.44;MutationAssessor_pred=M;FATHMM_score=-2.18;FATHMM_pred=D;PROVEAN_score=-4.76;PROVEAN_pred=D;VEST3_score=0.158;CADD_raw=5.156;CADD_phred=25.4;DANN_score=0.999;fathmm-MKL_coding_score=0.958;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.339;MetaSVM_pred=T;MetaLR_score=0.161;MetaLR_pred=T;integrated_fitCons_score=0.447;integrated_confidence_value=0;GERP++_RS=3.53;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.932;phastCons7way_vertebrate=0.999;phastCons20way_mammalian=0.971;SiPhy_29way_logOdds=10.491;hgmdPRO=id:CM122341#"Cardiomyopathy_hypertrophic";gnomAD_exome_ALL=0.0682;gnomAD_exome_AFR=0.0561;gnomAD_exome_AMR=0.0410;gnomAD_exome_ASJ=0.1102;gnomAD_exome_EAS=0.0128;gnomAD_exome_FIN=0.0463;gnomAD_exome_NFE=0.0829;gnomAD_exome_OTH=0.0767;gnomAD_exome_SAS=0.0822;gnomAD_genome_ALL=0.0707;gnomAD_genome_AFR=0.0646;gnomAD_genome_AMR=0.0537;gnomAD_genome_ASJ=0.0933;gnomAD_genome_EAS=0.0092;gnomAD_genome_FIN=0.0512;gnomAD_genome_NFE=0.0860;gnomAD_genome_OTH=0.0704;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=1 GT:DP:RO:QR:AO:QA:GL 0/1:1249:659:19640:544:15705:-879.438,0,-1241.07 +chr14 23882144 . T C 18077.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=923;CIGAR=1X;DP=969;DPB=969;DPRA=0;EPP=3.29497;EPPR=3.20771;GTI=0;LEN=1;MEANALT=3;MQM=30.2654;MQMR=36.2727;NS=1;NUMALT=1;ODDS=1188.94;PAIRED=0.8039;PAIREDR=0.727273;PAO=0;PQA=0;PQR=0;PRO=0;QA=25238;QR=325;RO=11;RPL=672;RPP=419.992;RPPR=12.6832;RPR=251;RUN=1;SAF=414;SAP=24.2427;SAR=509;SRF=5;SRP=3.20771;SRR=6;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q11.2;esp6500siv2_all=0.4647;esp6500siv2_ea=0.3705;esp6500siv2_all=0.4647;esp6500siv2_ea=0.3705;1000g2015aug_all=0.384385;avsnp147=rs2284651;Kaviar_AF=0.0711246;Kaviar_AC=10996;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.4369;gnomAD_genome_AFR=0.6912;gnomAD_genome_AMR=0.2745;gnomAD_genome_ASJ=0.4733;gnomAD_genome_EAS=0.1384;gnomAD_genome_FIN=0.2822;gnomAD_genome_NFE=0.3720;gnomAD_genome_OTH=0.3391;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:969:11:325:923:25238:-1854.97,-255.371,0 +chr14 23884889 . C T 5975.92 . AB=0.479482;ABP=6.39648;AC=1;AF=0.5;AN=2;AO=444;CIGAR=1X;DP=926;DPB=926;DPRA=0;EPP=134.551;EPPR=139.317;GTI=0;LEN=1;MEANALT=3;MQM=35.2568;MQMR=35.6615;NS=1;NUMALT=1;ODDS=1376.01;PAIRED=0.952703;PAIREDR=0.898901;PAO=0;PQA=0;PQR=0;PRO=0;QA=12416;QR=13619;RO=455;RPL=426;RPP=817.136;RPPR=906.08;RPR=18;RUN=1;SAF=316;SAP=175.867;SAR=128;SRF=310;SRP=132.941;SRR=145;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon35:c.G5106A:p.A1702A;cytoBand=14q11.2;esp6500siv2_all=0.1606;esp6500siv2_ea=0.1317;esp6500siv2_all=0.1606;esp6500siv2_ea=0.1317;1000g2015aug_all=0.117612;avsnp147=rs3729830;Kaviar_AF=0.10853;Kaviar_AC=16779;Kaviar_AN=154602;ExAC_ALL=0.1070;ExAC_AFR=0.2320;ExAC_AMR=0.0588;ExAC_EAS=0.0153;ExAC_FIN=0.0745;ExAC_NFE=0.1175;ExAC_OTH=0.1051;ExAC_SAS=0.0809;CLNALLELEID=52226;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=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;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1037;gnomAD_exome_AFR=0.2273;gnomAD_exome_AMR=0.0651;gnomAD_exome_ASJ=0.1267;gnomAD_exome_EAS=0.0138;gnomAD_exome_FIN=0.0734;gnomAD_exome_NFE=0.1224;gnomAD_exome_OTH=0.1057;gnomAD_exome_SAS=0.0812;gnomAD_genome_ALL=0.1409;gnomAD_genome_AFR=0.2333;gnomAD_genome_AMR=0.0907;gnomAD_genome_ASJ=0.1060;gnomAD_genome_EAS=0.0123;gnomAD_genome_FIN=0.0799;gnomAD_genome_NFE=0.1213;gnomAD_genome_OTH=0.1041;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:926:455:13619:444:12416:-737.242,0,-811.371 +chr14 23892888 . A G 7695.99 . AB=0.475691;ABP=8.39448;AC=1;AF=0.5;AN=2;AO=499;CIGAR=1X;DP=1049;DPB=1049;DPRA=0;EPP=75.4261;EPPR=119.249;GTI=0;LEN=1;MEANALT=3;MQM=35.2024;MQMR=35.7025;NS=1;NUMALT=1;ODDS=1772.07;PAIRED=0.945892;PAIREDR=0.919386;PAO=0;PQA=0;PQR=0;PRO=0;QA=13560;QR=15020;RO=521;RPL=191;RPP=62.58;RPPR=8.11597;RPR=308;RUN=1;SAF=252;SAP=3.11909;SAR=247;SRF=236;SRP=13.0174;SRR=285;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon24:c.T2967C:p.I989I;cytoBand=14q11.2;esp6500siv2_all=0.4547;esp6500siv2_ea=0.3288;esp6500siv2_all=0.4547;esp6500siv2_ea=0.3288;1000g2015aug_all=0.376398;avsnp147=rs7157716;Kaviar_AF=0.32052;Kaviar_AC=49553;Kaviar_AN=154602;ExAC_ALL=0.3212;ExAC_AFR=0.7184;ExAC_AMR=0.1874;ExAC_EAS=0.1584;ExAC_FIN=0.2499;ExAC_NFE=0.3270;ExAC_OTH=0.2996;ExAC_SAS=0.2562;CLNALLELEID=52112;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=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;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3070;gnomAD_exome_AFR=0.7180;gnomAD_exome_AMR=0.2013;gnomAD_exome_ASJ=0.3954;gnomAD_exome_EAS=0.1554;gnomAD_exome_FIN=0.2467;gnomAD_exome_NFE=0.3225;gnomAD_exome_OTH=0.3241;gnomAD_exome_SAS=0.2587;gnomAD_genome_ALL=0.4165;gnomAD_genome_AFR=0.7157;gnomAD_genome_AMR=0.2428;gnomAD_genome_ASJ=0.44;gnomAD_genome_EAS=0.1389;gnomAD_genome_FIN=0.2602;gnomAD_genome_NFE=0.3257;gnomAD_genome_OTH=0.3098;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1049:521:15020:499:13560:-790.968,0,-890.325 +chr14 23898994 . G A 7711.68 . AB=0.442704;ABP=37.5981;AC=1;AF=0.5;AN=2;AO=537;CIGAR=1X;DP=1213;DPB=1213;DPRA=0;EPP=3.20844;EPPR=3.01374;GTI=0;LEN=1;MEANALT=3;MQM=33.3762;MQMR=33.225;NS=1;NUMALT=1;ODDS=1775.68;PAIRED=0.877095;PAIREDR=0.852615;PAO=0;PQA=0;PQR=0;PRO=0;QA=14733;QR=18747;RO=631;RPL=154;RPP=215.067;RPPR=278.622;RPR=383;RUN=1;SAF=281;SAP=5.53762;SAR=256;SRF=330;SRP=5.90445;SRR=301;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon12:c.C1128T:p.D376D;cytoBand=14q11.2;esp6500siv2_all=0.1845;esp6500siv2_ea=0.0867;esp6500siv2_all=0.1845;esp6500siv2_ea=0.0867;1000g2015aug_all=0.15615;avsnp147=rs2231126;Kaviar_AF=0.0943131;Kaviar_AC=14581;Kaviar_AN=154602;ExAC_ALL=0.0961;ExAC_AFR=0.3860;ExAC_AMR=0.0482;ExAC_EAS=0.0149;ExAC_FIN=0.0543;ExAC_NFE=0.0794;ExAC_OTH=0.0837;ExAC_SAS=0.0742;CLNALLELEID=51993;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=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;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0884;gnomAD_exome_AFR=0.3897;gnomAD_exome_AMR=0.0534;gnomAD_exome_ASJ=0.0925;gnomAD_exome_EAS=0.0132;gnomAD_exome_FIN=0.0524;gnomAD_exome_NFE=0.0801;gnomAD_exome_OTH=0.0879;gnomAD_exome_SAS=0.0739;gnomAD_genome_ALL=0.1578;gnomAD_genome_AFR=0.3795;gnomAD_genome_AMR=0.0728;gnomAD_genome_ASJ=0.0767;gnomAD_genome_EAS=0.0111;gnomAD_genome_FIN=0.0600;gnomAD_genome_NFE=0.0785;gnomAD_genome_OTH=0.0862;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1213:631:18747:537:14733:-802.962,0,-1083.34 +chr14 23900794 . G A 1803.35 . AB=0.40113;ABP=33.0674;AC=1;AF=0.5;AN=2;AO=142;CIGAR=1X;DP=354;DPB=354;DPRA=0;EPP=27.4776;EPPR=36.354;GTI=0;LEN=1;MEANALT=3;MQM=37.1901;MQMR=36.9239;NS=1;NUMALT=1;ODDS=415.237;PAIRED=0.901408;PAIREDR=0.878173;PAO=0;PQA=0;PQR=0;PRO=0;QA=4096;QR=6372;RO=197;RPL=0;RPP=311.359;RPPR=430.79;RPR=142;RUN=1;SAF=91;SAP=27.4776;SAR=51;SRF=126;SRP=36.354;SRR=71;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon8:c.C732T:p.F244F;cytoBand=14q11.2;esp6500siv2_all=0.2889;esp6500siv2_ea=0.1680;esp6500siv2_all=0.2889;esp6500siv2_ea=0.1680;1000g2015aug_all=0.263778;avsnp147=rs2069542;Kaviar_AF=0.18208;Kaviar_AC=28150;Kaviar_AN=154602;ExAC_ALL=0.1836;ExAC_AFR=0.5481;ExAC_AMR=0.1034;ExAC_EAS=0.0711;ExAC_FIN=0.1112;ExAC_NFE=0.1618;ExAC_OTH=0.1707;ExAC_SAS=0.1873;CLNALLELEID=52273;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=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;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1739;gnomAD_exome_AFR=0.5518;gnomAD_exome_AMR=0.1135;gnomAD_exome_ASJ=0.2162;gnomAD_exome_EAS=0.0691;gnomAD_exome_FIN=0.1102;gnomAD_exome_NFE=0.1604;gnomAD_exome_OTH=0.1892;gnomAD_exome_SAS=0.1896;gnomAD_genome_ALL=0.2555;gnomAD_genome_AFR=0.5406;gnomAD_genome_AMR=0.1435;gnomAD_genome_ASJ=0.2152;gnomAD_genome_EAS=0.0679;gnomAD_genome_FIN=0.1215;gnomAD_genome_NFE=0.1547;gnomAD_genome_OTH=0.1575;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:354:197:6372:142:4096:-235.66,0,-412.607 +chr14 23902753 . G A 7112.31 . AB=0.562588;ABP=27.2019;AC=1;AF=0.5;AN=2;AO=400;CIGAR=1X;DP=711;DPB=711;DPRA=0;EPP=7.26639;EPPR=3.61473;GTI=0;LEN=1;MEANALT=3;MQM=36.4075;MQMR=36.8316;NS=1;NUMALT=1;ODDS=1123.84;PAIRED=0.9675;PAIREDR=0.975945;PAO=0;PQA=0;PQR=0;PRO=0;QA=11857;QR=9079;RO=291;RPL=132;RPP=103.419;RPPR=64.804;RPR=268;RUN=1;SAF=306;SAP=246.997;SAR=94;SRF=237;SRP=252.909;SRR=54;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon3:c.C189T:p.T63T;cytoBand=14q11.2;esp6500siv2_all=0.5275;esp6500siv2_ea=0.4841;esp6500siv2_all=0.5275;esp6500siv2_ea=0.4841;1000g2015aug_all=0.520367;avsnp147=rs2069540;Kaviar_AF=0.485375;Kaviar_AC=75040;Kaviar_AN=154602;ExAC_ALL=0.4888;ExAC_AFR=0.6284;ExAC_AMR=0.4253;ExAC_EAS=0.3692;ExAC_FIN=0.3972;ExAC_NFE=0.4780;ExAC_OTH=0.4415;ExAC_SAS=0.5906;CLNALLELEID=52039;CLNDN=Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=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;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4809;gnomAD_exome_AFR=0.6281;gnomAD_exome_AMR=0.4302;gnomAD_exome_ASJ=0.4674;gnomAD_exome_EAS=0.3746;gnomAD_exome_FIN=0.4046;gnomAD_exome_NFE=0.4796;gnomAD_exome_OTH=0.4901;gnomAD_exome_SAS=0.5851;gnomAD_genome_ALL=0.5085;gnomAD_genome_AFR=0.6281;gnomAD_genome_AMR=0.4510;gnomAD_genome_ASJ=0.4603;gnomAD_genome_EAS=0.3933;gnomAD_genome_FIN=0.4186;gnomAD_genome_NFE=0.4778;gnomAD_genome_OTH=0.4898;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:711:291:9079:400:11857:-758.954,0,-532.516 +chr14 73664853 . G T 17690.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=687;CIGAR=1X;DP=700;DPB=700;DPRA=0;EPP=43.3706;EPPR=4.78696;GTI=0;LEN=1;MEANALT=2;MQM=38.3697;MQMR=41.6364;NS=1;NUMALT=1;ODDS=867.502;PAIRED=0.970888;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=22014;QR=269;RO=11;RPL=445;RPP=133.264;RPPR=3.20771;RPR=242;RUN=1;SAF=227;SAP=174.607;SAR=460;SRF=6;SRP=3.20771;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q24.2;esp6500siv2_all=0.6193;esp6500siv2_ea=0.5613;esp6500siv2_all=0.6193;esp6500siv2_ea=0.5613;1000g2015aug_all=0.671526;avsnp147=rs165932;Kaviar_AF=0.58791;Kaviar_AC=90892;Kaviar_AN=154602;ExAC_ALL=0.6280;ExAC_AFR=0.7459;ExAC_AMR=0.7133;ExAC_EAS=0.6518;ExAC_FIN=0.5072;ExAC_NFE=0.5730;ExAC_OTH=0.5938;ExAC_SAS=0.7374;CLNALLELEID=255043;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=id:CS962745#"Alzheimer_disease_late-onset_protection_association";gnomAD_exome_ALL=0.6082;gnomAD_exome_AFR=0.7457;gnomAD_exome_AMR=0.6913;gnomAD_exome_ASJ=0.5869;gnomAD_exome_EAS=0.6431;gnomAD_exome_FIN=0.4813;gnomAD_exome_NFE=0.5520;gnomAD_exome_OTH=0.5871;gnomAD_exome_SAS=0.7301;gnomAD_genome_ALL=0.5959;gnomAD_genome_AFR=0.7302;gnomAD_genome_AMR=0.6897;gnomAD_genome_ASJ=0.5867;gnomAD_genome_EAS=0.6176;gnomAD_genome_FIN=0.4774;gnomAD_genome_NFE=0.5399;gnomAD_genome_OTH=0.5663;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:700:11:269:687:22014:-1806.28,-186.193,0 +chr14 90863489 . G A 3907.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=225;CIGAR=1X;DP=271;DPB=271;DPRA=0;EPP=6.49431;EPPR=23.2217;GTI=0;LEN=1;MEANALT=3;MQM=30.0533;MQMR=27.6923;NS=1;NUMALT=1;ODDS=272.644;PAIRED=0.924444;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5689;QR=182;RO=13;RPL=100;RPP=9.04217;RPPR=23.2217;RPR=125;RUN=1;SAF=174;SAP=149.02;SAR=51;SRF=13;SRP=31.2394;SRR=0;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=CALM1;GeneDetail.refGene=NM_006888:c.-86G>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q32.11;esp6500siv2_all=0.7892;esp6500siv2_ea=0.8852;esp6500siv2_all=0.7892;esp6500siv2_ea=0.8852;1000g2015aug_all=0.716054;avsnp147=rs12886342;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.7794;gnomAD_genome_AFR=0.5566;gnomAD_genome_AMR=0.8007;gnomAD_genome_ASJ=0.8311;gnomAD_genome_EAS=0.8205;gnomAD_genome_FIN=0.8573;gnomAD_genome_NFE=0.8792;gnomAD_genome_OTH=0.8514;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:271:13:182:225:5689:-401.406,-56.2066,0 +chr14 90866346 . C T 9185.53 . AB=0.523605;ABP=7.521;AC=1;AF=0.5;AN=2;AO=488;CIGAR=1X;DP=932;DPB=932;DPRA=0;EPP=62.886;EPPR=42.0504;GTI=0;LEN=1;MEANALT=3;MQM=39.3586;MQMR=40.2399;NS=1;NUMALT=1;ODDS=1776.45;PAIRED=0.967213;PAIREDR=0.990499;PAO=0;PQA=0;PQR=0;PRO=0;QA=14173;QR=12376;RO=421;RPL=205;RPP=30.0825;RPPR=88.8428;RPR=283;RUN=1;SAF=207;SAP=27.3771;SAR=281;SRF=195;SRP=7.96703;SRR=226;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=14q32.11;esp6500siv2_all=0.5022;esp6500siv2_ea=0.6245;esp6500siv2_all=0.5022;esp6500siv2_ea=0.6245;1000g2015aug_all=0.484425;avsnp147=rs2268433;Kaviar_AF=0.117618;Kaviar_AC=18184;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.5084;gnomAD_genome_AFR=0.2167;gnomAD_genome_AMR=0.5274;gnomAD_genome_ASJ=0.6523;gnomAD_genome_EAS=0.7794;gnomAD_genome_FIN=0.5967;gnomAD_genome_NFE=0.6196;gnomAD_genome_OTH=0.5787;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:932:421:12376:488:14173:-938.717,0,-793.504 +chr15 48712876 . T G 4352.27 . AB=0.453686;ABP=12.8661;AC=1;AF=0.5;AN=2;AO=240;CIGAR=1X;DP=529;DPB=529;DPRA=0;EPP=5.32654;EPPR=3.20349;GTI=0;LEN=1;MEANALT=3;MQM=38.8583;MQMR=37.7046;NS=1;NUMALT=1;ODDS=1002.15;PAIRED=0.954167;PAIREDR=0.950178;PAO=0;PQA=0;PQR=0;PRO=0;QA=7059;QR=8094;RO=281;RPL=113;RPP=4.78367;RPPR=3.63624;RPR=127;RUN=1;SAF=107;SAP=9.12661;SAR=133;SRF=136;SRP=3.63624;SRR=145;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;esp6500siv2_all=0.0211;esp6500siv2_ea=0.0099;esp6500siv2_all=0.0211;esp6500siv2_ea=0.0099;1000g2015aug_all=0.0491214;avsnp147=rs363838;Kaviar_AF=0.0254719;Kaviar_AC=3938;Kaviar_AN=154602;ExAC_ALL=0.0268;ExAC_AFR=0.0404;ExAC_AMR=0.0591;ExAC_EAS=0.0796;ExAC_FIN=0.0129;ExAC_NFE=0.0102;ExAC_OTH=0.0165;ExAC_SAS=0.0414;CLNALLELEID=51603;CLNDN=Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0262;gnomAD_exome_AFR=0.0377;gnomAD_exome_AMR=0.0534;gnomAD_exome_ASJ=0.0105;gnomAD_exome_EAS=0.0743;gnomAD_exome_FIN=0.0107;gnomAD_exome_NFE=0.0099;gnomAD_exome_OTH=0.0252;gnomAD_exome_SAS=0.0396;gnomAD_genome_ALL=0.0211;gnomAD_genome_AFR=0.0379;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0556;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0082;gnomAD_genome_OTH=0.0184;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:529:281:8094:240:7059:-444.267,0,-511.899 +chr15 48720526 . G C 14419.2 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=606;CIGAR=1X;DP=618;DPB=618;DPRA=0;EPP=4.44362;EPPR=3.73412;GTI=0;LEN=1;MEANALT=2;MQM=36.6535;MQMR=29.6667;NS=1;NUMALT=1;ODDS=820.495;PAIRED=0.943894;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=17925;QR=82;RO=3;RPL=199;RPP=158.038;RPPR=9.52472;RPR=407;RUN=1;SAF=310;SAP=3.71262;SAR=296;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;esp6500siv2_all=0.6784;esp6500siv2_ea=0.7771;esp6500siv2_all=0.6784;esp6500siv2_ea=0.7771;1000g2015aug_all=0.65595;avsnp147=rs363832;Kaviar_AF=0.731129;Kaviar_AC=113034;Kaviar_AN=154602;ExAC_ALL=0.7404;ExAC_AFR=0.4737;ExAC_AMR=0.7988;ExAC_EAS=0.6464;ExAC_FIN=0.7537;ExAC_NFE=0.7660;ExAC_OTH=0.7555;ExAC_SAS=0.8065;CLNALLELEID=141015;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7472;gnomAD_exome_AFR=0.4624;gnomAD_exome_AMR=0.7906;gnomAD_exome_ASJ=0.8060;gnomAD_exome_EAS=0.6394;gnomAD_exome_FIN=0.7426;gnomAD_exome_NFE=0.7679;gnomAD_exome_OTH=0.7587;gnomAD_exome_SAS=0.8094;gnomAD_genome_ALL=0.6718;gnomAD_genome_AFR=0.4800;gnomAD_genome_AMR=0.7847;gnomAD_genome_ASJ=0.7616;gnomAD_genome_EAS=0.6314;gnomAD_genome_FIN=0.7437;gnomAD_genome_NFE=0.7594;gnomAD_genome_OTH=0.7219;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:618:3:82:606:17925:-1460.64,-176.828,0 +chr15 48720652 . C T 8000.37 . AB=0.444062;ABP=34.592;AC=1;AF=0.5;AN=2;AO=516;CIGAR=1X;DP=1162;DPB=1162;DPRA=0;EPP=34.1347;EPPR=31.9183;GTI=0;LEN=1;MEANALT=3;MQM=35.9864;MQMR=37.4706;NS=1;NUMALT=1;ODDS=1842.15;PAIRED=0.920543;PAIREDR=0.905882;PAO=0;PQA=0;PQR=0;PRO=0;QA=14040;QR=18003;RO=595;RPL=236;RPP=11.1575;RPPR=16.5902;RPR=280;RUN=1;SAF=285;SAP=15.2816;SAR=231;SRF=340;SRP=29.3782;SRR=255;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon57:c.G6888A:p.Q2296Q;cytoBand=15q21.1;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;1000g2015aug_all=0.0509185;avsnp147=rs363830;Kaviar_AF=0.0285443;Kaviar_AC=4413;Kaviar_AN=154602;ExAC_ALL=0.0296;ExAC_AFR=0.0409;ExAC_AMR=0.0596;ExAC_EAS=0.0796;ExAC_FIN=0.0153;ExAC_NFE=0.0149;ExAC_OTH=0.0166;ExAC_SAS=0.0416;CLNALLELEID=51583;CLNDN=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;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0296;gnomAD_exome_AFR=0.0388;gnomAD_exome_AMR=0.0549;gnomAD_exome_ASJ=0.0141;gnomAD_exome_EAS=0.0739;gnomAD_exome_FIN=0.0136;gnomAD_exome_NFE=0.0155;gnomAD_exome_OTH=0.0306;gnomAD_exome_SAS=0.0399;gnomAD_genome_ALL=0.0245;gnomAD_genome_AFR=0.0392;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0553;gnomAD_genome_FIN=0.0175;gnomAD_genome_NFE=0.0137;gnomAD_genome_OTH=0.0204;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1162:595:18003:516:14040:-814.404,0,-1151.84 +chr15 48722884 . A G 11292.4 . AB=0.490369;ABP=4.01413;AC=1;AF=0.5;AN=2;AO=611;CIGAR=1X;DP=1246;DPB=1246;DPRA=0;EPP=29.9103;EPPR=44.2612;GTI=0;LEN=1;MEANALT=3;MQM=38.1915;MQMR=38.0814;NS=1;NUMALT=1;ODDS=2600.16;PAIRED=0.952537;PAIREDR=0.918567;PAO=0;PQA=0;PQR=0;PRO=0;QA=18200;QR=18878;RO=614;RPL=231;RPP=81.9119;RPPR=107.637;RPR=380;RUN=1;SAF=388;SAP=99.767;SAR=223;SRF=390;SRP=100.465;SRR=224;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon56:c.T6855C:p.D2285D;cytoBand=15q21.1;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;1000g2015aug_all=0.0511182;avsnp147=rs363836;Kaviar_AF=0.0285507;Kaviar_AC=4414;Kaviar_AN=154602;ExAC_ALL=0.0297;ExAC_AFR=0.0409;ExAC_AMR=0.0597;ExAC_EAS=0.0797;ExAC_FIN=0.0153;ExAC_NFE=0.0149;ExAC_OTH=0.0165;ExAC_SAS=0.0417;CLNALLELEID=51582;CLNDN=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;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0296;gnomAD_exome_AFR=0.0388;gnomAD_exome_AMR=0.0549;gnomAD_exome_ASJ=0.0141;gnomAD_exome_EAS=0.0741;gnomAD_exome_FIN=0.0136;gnomAD_exome_NFE=0.0155;gnomAD_exome_OTH=0.0309;gnomAD_exome_SAS=0.0399;gnomAD_genome_ALL=0.0245;gnomAD_genome_AFR=0.0392;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0551;gnomAD_genome_FIN=0.0175;gnomAD_genome_NFE=0.0137;gnomAD_genome_OTH=0.0204;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1246:614:18878:611:18200:-1157.79,0,-1189.54 +chr15 48725206 . T A 10818.8 . AB=0.496558;ABP=3.1299;AC=1;AF=0.5;AN=2;AO=577;CIGAR=1X;DP=1162;DPB=1162;DPRA=0;EPP=170.56;EPPR=41.6686;GTI=0;LEN=1;MEANALT=3;MQM=38.7522;MQMR=39.6178;NS=1;NUMALT=1;ODDS=2491.13;PAIRED=0.941075;PAIREDR=0.968586;PAO=0;PQA=0;PQR=0;PRO=0;QA=17227;QR=18034;RO=573;RPL=331;RPP=30.2007;RPPR=35.787;RPR=246;RUN=1;SAF=346;SAP=52.781;SAR=231;SRF=317;SRP=17.1116;SRR=256;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;esp6500siv2_all=0.0263;esp6500siv2_ea=0.0172;1000g2015aug_all=0.0507188;avsnp147=rs363823;Kaviar_AF=0.0285313;Kaviar_AC=4411;Kaviar_AN=154602;ExAC_ALL=0.0296;ExAC_AFR=0.0409;ExAC_AMR=0.0596;ExAC_EAS=0.0798;ExAC_FIN=0.0153;ExAC_NFE=0.0148;ExAC_OTH=0.0166;ExAC_SAS=0.0417;CLNALLELEID=255253;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0296;gnomAD_exome_AFR=0.0388;gnomAD_exome_AMR=0.0549;gnomAD_exome_ASJ=0.0141;gnomAD_exome_EAS=0.0741;gnomAD_exome_FIN=0.0136;gnomAD_exome_NFE=0.0154;gnomAD_exome_OTH=0.0307;gnomAD_exome_SAS=0.0399;gnomAD_genome_ALL=0.0245;gnomAD_genome_AFR=0.0393;gnomAD_genome_AMR=0.0465;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0553;gnomAD_genome_FIN=0.0175;gnomAD_genome_NFE=0.0137;gnomAD_genome_OTH=0.0206;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1162:573:18034:577:17227:-1114.8,0,-1188.57 +chr15 48729648 . T C 28891.3 . 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T C 9816.93 . AB=0.471326;ABP=10.9801;AC=1;AF=0.5;AN=2;AO=526;CIGAR=1X;DP=1116;DPB=1116;DPRA=0;EPP=111.353;EPPR=84.901;GTI=0;LEN=1;MEANALT=3;MQM=38.7624;MQMR=39.2129;NS=1;NUMALT=1;ODDS=2260.43;PAIRED=0.979087;PAIREDR=0.947644;PAO=0;PQA=0;PQR=0;PRO=0;QA=16108;QR=18091;RO=573;RPL=395;RPP=290.735;RPPR=285.45;RPR=131;RUN=1;SAF=219;SAP=34.9797;SAR=307;SRF=243;SRP=31.6942;SRR=330;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;esp6500siv2_all=0.0119;esp6500siv2_ea=0.0101;esp6500siv2_all=0.0119;esp6500siv2_ea=0.0101;1000g2015aug_all=0.0405351;avsnp147=rs55840194;Kaviar_AF=0.0233826;Kaviar_AC=3615;Kaviar_AN=154602;ExAC_ALL=0.0247;ExAC_AFR=0.0136;ExAC_AMR=0.0581;ExAC_EAS=0.0828;ExAC_FIN=0.0129;ExAC_NFE=0.0103;ExAC_OTH=0.0167;ExAC_SAS=0.0417;CLNALLELEID=141011;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0246;gnomAD_exome_AFR=0.0126;gnomAD_exome_AMR=0.0520;gnomAD_exome_ASJ=0.0105;gnomAD_exome_EAS=0.0765;gnomAD_exome_FIN=0.0106;gnomAD_exome_NFE=0.0099;gnomAD_exome_OTH=0.0253;gnomAD_exome_SAS=0.0397;gnomAD_genome_ALL=0.0145;gnomAD_genome_AFR=0.0138;gnomAD_genome_AMR=0.0453;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0.0576;gnomAD_genome_FIN=0.0146;gnomAD_genome_NFE=0.0085;gnomAD_genome_OTH=0.0173;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1116:573:18091:526:16108:-1034.38,0,-1191.79 +chr15 48779402 . 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AB=0.488903;ABP=4.64883;AC=1;AF=0.5;AN=2;AO=749;CIGAR=1X;DP=1532;DPB=1532;DPRA=0;EPP=9.41455;EPPR=20.0628;GTI=0;LEN=1;MEANALT=3;MQM=38.7583;MQMR=39.4305;NS=1;NUMALT=1;ODDS=3115.86;PAIRED=0.969292;PAIREDR=0.974834;PAO=0;PQA=0;PQR=0;PRO=0;QA=21993;QR=23277;RO=755;RPL=185;RPP=419.449;RPPR=557.299;RPR=564;RUN=1;SAF=481;SAP=134.542;SAR=268;SRF=520;SRP=236.623;SRR=235;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;esp6500siv2_all=0.1487;esp6500siv2_ea=0.1390;esp6500siv2_all=0.1487;esp6500siv2_ea=0.1390;1000g2015aug_all=0.196486;avsnp147=rs11853943;Kaviar_AF=0.166641;Kaviar_AC=25763;Kaviar_AN=154602;ExAC_ALL=0.1709;ExAC_AFR=0.1685;ExAC_AMR=0.1947;ExAC_EAS=0.3522;ExAC_FIN=0.2033;ExAC_NFE=0.1481;ExAC_OTH=0.1623;ExAC_SAS=0.1403;CLNALLELEID=141008;CLNDN=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;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=id:CS145757#"Marfan_syndrome_features";gnomAD_exome_ALL=0.1687;gnomAD_exome_AFR=0.1707;gnomAD_exome_AMR=0.1888;gnomAD_exome_ASJ=0.0574;gnomAD_exome_EAS=0.3444;gnomAD_exome_FIN=0.2082;gnomAD_exome_NFE=0.1466;gnomAD_exome_OTH=0.1586;gnomAD_exome_SAS=0.1365;gnomAD_genome_ALL=0.1764;gnomAD_genome_AFR=0.1712;gnomAD_genome_AMR=0.1718;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0.3315;gnomAD_genome_FIN=0.2095;gnomAD_genome_NFE=0.1557;gnomAD_genome_OTH=0.2045;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1532:755:23277:749:21993:-1419.02,0,-1517.31 +chr15 48797307 . A G 8136.2 . AB=0.473739;ABP=8.7127;AC=1;AF=0.5;AN=2;AO=451;CIGAR=1X;DP=952;DPB=952;DPRA=0;EPP=31.5572;EPPR=8.92254;GTI=0;LEN=1;MEANALT=3;MQM=37.7716;MQMR=38.937;NS=1;NUMALT=1;ODDS=1873.43;PAIRED=0.94235;PAIREDR=0.947479;PAO=0;PQA=0;PQR=0;PRO=0;QA=13284;QR=14894;RO=476;RPL=226;RPP=3.01511;RPPR=3.66722;RPR=225;RUN=1;SAF=276;SAP=52.126;SAR=175;SRF=266;SRP=17.3165;SRR=210;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon16:c.T1875C:p.N625N;cytoBand=15q21.1;esp6500siv2_all=0.2444;esp6500siv2_ea=0.1420;esp6500siv2_all=0.2444;esp6500siv2_ea=0.1420;1000g2015aug_all=0.296925;avsnp147=rs25458;Kaviar_AF=0.195398;Kaviar_AC=30209;Kaviar_AN=154602;ExAC_ALL=0.2006;ExAC_AFR=0.4573;ExAC_AMR=0.2071;ExAC_EAS=0.3527;ExAC_FIN=0.2031;ExAC_NFE=0.1511;ExAC_OTH=0.1751;ExAC_SAS=0.1552;CLNALLELEID=51467;CLNDN=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;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=id:CM070116#"Tall_stature_association_with";gnomAD_exome_ALL=0.1919;gnomAD_exome_AFR=0.4606;gnomAD_exome_AMR=0.2000;gnomAD_exome_ASJ=0.0580;gnomAD_exome_EAS=0.3438;gnomAD_exome_FIN=0.2081;gnomAD_exome_NFE=0.1500;gnomAD_exome_OTH=0.1712;gnomAD_exome_SAS=0.1508;gnomAD_genome_ALL=0.2590;gnomAD_genome_AFR=0.4571;gnomAD_genome_AMR=0.1787;gnomAD_genome_ASJ=0.0662;gnomAD_genome_EAS=0.3323;gnomAD_genome_FIN=0.2102;gnomAD_genome_NFE=0.1585;gnomAD_genome_OTH=0.2204;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:952:476:14894:451:13284:-829.43,0,-965.25 +chr15 48807637 . C T 35573.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1434;CIGAR=1X;DP=1450;DPB=1450;DPRA=0;EPP=285.611;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=38.0342;MQMR=23.5;NS=1;NUMALT=1;ODDS=1974.92;PAIRED=0.941423;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=44304;QR=59;RO=2;RPL=399;RPP=615.529;RPPR=3.0103;RPR=1035;RUN=1;SAF=960;SAP=360.676;SAR=474;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FBN1:NM_000138:exon12:c.G1415A:p.C472Y;cytoBand=15q21.1;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs4775765;Kaviar_AF=0.938235;Kaviar_AC=145053;Kaviar_AN=154602;ExAC_ALL=1;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=1;CLNALLELEID=230590;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=1;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=1;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1450:2:59:1434:44304:-3689.75,-428.226,0 +chr15 48826427 . GAAAAAAAAAAAAC GAAAAAAAAAAAC 1878.33 . AB=0.305955;ABP=162.286;AC=1;AF=0.5;AN=2;AO=149;CIGAR=1M1D12M;DP=487;DPB=479.857;DPRA=0;EPP=12.1188;EPPR=4.9151;GTI=0;LEN=1;MEANALT=70;MQM=34.4832;MQMR=36.3596;NS=1;NUMALT=1;ODDS=432.501;PAIRED=0.885906;PAIREDR=0.929825;PAO=3;PQA=87.5;PQR=87.5;PRO=3;QA=3300;QR=3563;RO=114;RPL=75;RPP=3.02487;RPPR=4.22937;RPR=74;RUN=1;SAF=106;SAP=60.8531;SAR=43;SRF=91;SRP=91.0883;SRR=23;TYPE=del;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=FBN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q21.1;esp6500siv2_all=0.1679;esp6500siv2_ea=0.1883;esp6500siv2_all=0.1679;esp6500siv2_ea=0.1883;1000g2015aug_all=.;avsnp147=rs373084568;Kaviar_AF=0.0003622;Kaviar_AC=56;Kaviar_AN=154602;ExAC_ALL=0.1731;ExAC_AFR=0.0815;ExAC_AMR=0.1537;ExAC_EAS=0.1871;ExAC_FIN=0.2479;ExAC_NFE=0.1862;ExAC_OTH=0.1782;ExAC_SAS=0.1470;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2451;gnomAD_exome_AFR=0.1177;gnomAD_exome_AMR=0.2227;gnomAD_exome_ASJ=0.1330;gnomAD_exome_EAS=0.2040;gnomAD_exome_FIN=0.3209;gnomAD_exome_NFE=0.2684;gnomAD_exome_OTH=0.2506;gnomAD_exome_SAS=0.2255;gnomAD_genome_ALL=0.1542;gnomAD_genome_AFR=0.0601;gnomAD_genome_AMR=0.1458;gnomAD_genome_ASJ=0.0917;gnomAD_genome_EAS=0.1024;gnomAD_genome_FIN=0.3844;gnomAD_genome_NFE=0.1817;gnomAD_genome_OTH=0.2298;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:487:114:3563:149:3300:-202.546,0,-208.277 +chr15 63351840 . C A 34996.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1562;CIGAR=1X;DP=1626;DPB=1626;DPRA=0;EPP=134.889;EPPR=19.1015;GTI=0;LEN=1;MEANALT=3;MQM=37.7721;MQMR=33.8205;NS=1;NUMALT=1;ODDS=1882.47;PAIRED=0.980154;PAIREDR=0.923077;PAO=0;PQA=0;PQR=0;PRO=0;QA=42842;QR=910;RO=39;RPL=917;RPP=105.862;RPPR=3.51141;RPR=645;RUN=1;SAF=528;SAP=358.948;SAR=1034;SRF=18;SRP=3.51141;SRR=21;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TPM1:NM_001018008:exon3:c.C345A:p.A115A,TPM1:NM_001301289:exon3:c.C345A:p.A115A,TPM1:NM_000366:exon4:c.C453A:p.A151A,TPM1:NM_001018004:exon4:c.C453A:p.A151A,TPM1:NM_001018005:exon4:c.C453A:p.A151A,TPM1:NM_001018006:exon4:c.C453A:p.A151A,TPM1:NM_001018007:exon4:c.C453A:p.A151A,TPM1:NM_001018020:exon4:c.C453A:p.A151A,TPM1:NM_001301244:exon4:c.C453A:p.A151A;cytoBand=15q22.2;esp6500siv2_all=0.6357;esp6500siv2_ea=0.6458;esp6500siv2_all=0.6357;esp6500siv2_ea=0.6458;1000g2015aug_all=0.705671;avsnp147=rs1071646;Kaviar_AF=0.669267;Kaviar_AC=103470;Kaviar_AN=154602;ExAC_ALL=0.6737;ExAC_AFR=0.6163;ExAC_AMR=0.5628;ExAC_EAS=0.9575;ExAC_FIN=0.6981;ExAC_NFE=0.6546;ExAC_OTH=0.6707;ExAC_SAS=0.7060;CLNALLELEID=40548;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6702;gnomAD_exome_AFR=0.6157;gnomAD_exome_AMR=0.5547;gnomAD_exome_ASJ=0.6603;gnomAD_exome_EAS=0.9583;gnomAD_exome_FIN=0.7008;gnomAD_exome_NFE=0.6527;gnomAD_exome_OTH=0.6742;gnomAD_exome_SAS=0.7053;gnomAD_genome_ALL=0.6615;gnomAD_genome_AFR=0.6124;gnomAD_genome_AMR=0.5610;gnomAD_genome_ASJ=0.6490;gnomAD_genome_EAS=0.9604;gnomAD_genome_FIN=0.6959;gnomAD_genome_NFE=0.6548;gnomAD_genome_OTH=0.6741;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1626:39:910:1562:42842:-3560.1,-407.648,0 +chr15 63363401 . CG CATTTTGTTTTG,CATTTTG 5537.4 . AB=0.357357,0.33033;ABP=120.713,169.542;AC=1,1;AF=0.5,0.5;AN=2;AO=238,220;CIGAR=1M10I1M,1M5I1M;DP=666;DPB=2590;DPRA=0,0;EPP=9.17801,22.1193;EPPR=12.7819;GTI=0;LEN=10,5;MEANALT=41,41;MQM=28.7227,35.7955;MQMR=38.875;NS=1;NUMALT=2;ODDS=443.432;PAIRED=0.995798,0.995455;PAIREDR=0.875;PAO=3.33333,3.33333;PQA=96,96;PQR=96;PRO=3.33333;QA=4756,4640;QR=177;RO=8;RPL=40,60;RPP=230.778,101.714;RPPR=3.0103;RPR=198,160;RUN=1,1;SAF=104,104;SAP=11.2218,4.43163;SAR=134,116;SRF=3;SRP=4.09604;SRR=5;TYPE=ins,ins;technology.Illumina-Nextseq=1,1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018006:c.*30_*31insATTTTGTTTT,NM_001018020:c.*30_*31insATTTTGTTTT,NM_001018007:c.*30_*31insATTTTGTTTT,NM_001018004:c.*30_*31insATTTTGTTTT,NM_001301289:c.*30_*31insATTTTGTTTT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.127396;avsnp147=rs201620283;Kaviar_AF=0.0115328;Kaviar_AC=1783;Kaviar_AN=154602;ExAC_ALL=0.4675;ExAC_AFR=0.3224;ExAC_AMR=0.3552;ExAC_EAS=0.4435;ExAC_FIN=0.5428;ExAC_NFE=0.5264;ExAC_OTH=0.5033;ExAC_SAS=0.3806;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.4542;gnomAD_genome_AFR=0.3253;gnomAD_genome_AMR=0.3849;gnomAD_genome_ASJ=0.5533;gnomAD_genome_EAS=0.4392;gnomAD_genome_FIN=0.5327;gnomAD_genome_NFE=0.5107;gnomAD_genome_OTH=0.5082;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001018006:c.*30_*31insATTTT,NM_001018020:c.*30_*31insATTTT,NM_001018007:c.*30_*31insATTTT,NM_001018004:c.*30_*31insATTTT,NM_001301289:c.*30_*31insATTTT;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=15q22.2;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.32528;avsnp147=rs201620283;Kaviar_AF=0.0098576;Kaviar_AC=1524;Kaviar_AN=154602;ExAC_ALL=0.3422;ExAC_AFR=0.3762;ExAC_AMR=0.5522;ExAC_EAS=0.5528;ExAC_FIN=0.2168;ExAC_NFE=0.2517;ExAC_OTH=0.2856;ExAC_SAS=0.4817;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.3138;gnomAD_genome_AFR=0.3671;gnomAD_genome_AMR=0.4652;gnomAD_genome_ASJ=0.2033;gnomAD_genome_EAS=0.5520;gnomAD_genome_FIN=0.2322;gnomAD_genome_NFE=0.2721;gnomAD_genome_OTH=0.2843;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/2:666:8:177:238,220:4756,4640:-600.664,-310.675,-243.25,-288.18,0,-226.174 +chr17 37822311 . A C 24126.7 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1187;CIGAR=1X;DP=1228;DPB=1228;DPRA=0;EPP=34.4043;EPPR=15.5221;GTI=0;LEN=1;MEANALT=3;MQM=31.4516;MQMR=25.8571;NS=1;NUMALT=1;ODDS=1517.52;PAIRED=0.817186;PAIREDR=0.714286;PAO=0;PQA=0;PQR=0;PRO=0;QA=33035;QR=403;RO=21;RPL=658;RPP=33.453;RPPR=15.5221;RPR=529;RUN=1;SAF=450;SAP=153.694;SAR=737;SRF=13;SRP=5.59539;SRR=8;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TCAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TCAP:NM_003673:exon2:c.A453C:p.A151A;cytoBand=17q12;esp6500siv2_all=0.6183;esp6500siv2_ea=0.7122;esp6500siv2_all=0.6183;esp6500siv2_ea=0.7122;1000g2015aug_all=0.54972;avsnp147=rs1053651;Kaviar_AF=0.66428;Kaviar_AC=102699;Kaviar_AN=154602;ExAC_ALL=0.6706;ExAC_AFR=0.4368;ExAC_AMR=0.6277;ExAC_EAS=0.3983;ExAC_FIN=0.7367;ExAC_NFE=0.7255;ExAC_OTH=0.6914;ExAC_SAS=0.7399;CLNALLELEID=53876;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6698;gnomAD_exome_AFR=0.4320;gnomAD_exome_AMR=0.6214;gnomAD_exome_ASJ=0.7057;gnomAD_exome_EAS=0.3877;gnomAD_exome_FIN=0.7411;gnomAD_exome_NFE=0.7262;gnomAD_exome_OTH=0.6823;gnomAD_exome_SAS=0.7424;gnomAD_genome_ALL=0.6111;gnomAD_genome_AFR=0.4325;gnomAD_genome_AMR=0.6089;gnomAD_genome_ASJ=0.6457;gnomAD_genome_EAS=0.3652;gnomAD_genome_FIN=0.7456;gnomAD_genome_NFE=0.7038;gnomAD_genome_OTH=0.7004;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.331439::-0.295326;Heart_Left_Ventricle=Heart_Left_Ventricle::0.318015::-0.354663;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 1/1:1228:21:403:1187:33035:-2433.94,-333.307,0 +chr17 39912145 . T A 374.459 . AB=0.450704;ABP=4.50892;AC=1;AF=0.5;AN=2;AO=32;CIGAR=1X;DP=71;DPB=71;DPRA=0;EPP=16.3106;EPPR=5.06748;GTI=0;LEN=1;MEANALT=2;MQM=34.1875;MQMR=31.7368;NS=1;NUMALT=1;ODDS=86.2223;PAIRED=1;PAIREDR=0.921053;PAO=0;PQA=0;PQR=0;PRO=0;QA=919;QR=1095;RO=38;RPL=24;RPP=20.3821;RPPR=5.06748;RPR=8;RUN=1;SAF=9;SAP=16.3106;SAR=23;SRF=10;SRP=21.525;SRR=28;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JUP:NM_002230:exon14:c.A2089T:p.M697L,JUP:NM_021991:exon14:c.A2089T:p.M697L;cytoBand=17q21.2;esp6500siv2_all=0.6970;esp6500siv2_ea=0.7391;esp6500siv2_all=0.6970;esp6500siv2_ea=0.7391;1000g2015aug_all=0.58726;avsnp147=rs1126821;Kaviar_AF=0.657482;Kaviar_AC=101648;Kaviar_AN=154602;ExAC_ALL=0.6592;ExAC_AFR=0.6037;ExAC_AMR=0.4306;ExAC_EAS=0.3439;ExAC_FIN=0.6698;ExAC_NFE=0.7291;ExAC_OTH=0.6558;ExAC_SAS=0.7361;CLNALLELEID=34156;CLNDN=Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.706;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.081;LRT_pred=N;MutationTaster_score=0.817;MutationTaster_pred=P;MutationAssessor_score=0.69;MutationAssessor_pred=N;FATHMM_score=0.31;FATHMM_pred=T;PROVEAN_score=-0.08;PROVEAN_pred=N;VEST3_score=0.106;CADD_raw=1.242;CADD_phred=11.97;DANN_score=0.691;fathmm-MKL_coding_score=0.683;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.959;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.707;integrated_confidence_value=0;GERP++_RS=1.12;phyloP7way_vertebrate=-0.013;phyloP20way_mammalian=1.061;phastCons7way_vertebrate=0.992;phastCons20way_mammalian=0.998;SiPhy_29way_logOdds=12.111;hgmdPRO=id:CM150228#"Arrhythmogenic_right_ventricular_cardiomyopathy";gnomAD_exome_ALL=0.6478;gnomAD_exome_AFR=0.5978;gnomAD_exome_AMR=0.4460;gnomAD_exome_ASJ=0.6982;gnomAD_exome_EAS=0.3377;gnomAD_exome_FIN=0.6533;gnomAD_exome_NFE=0.7357;gnomAD_exome_OTH=0.6635;gnomAD_exome_SAS=0.7329;gnomAD_genome_ALL=0.6634;gnomAD_genome_AFR=0.6017;gnomAD_genome_AMR=0.4880;gnomAD_genome_ASJ=0.6821;gnomAD_genome_EAS=0.3202;gnomAD_genome_FIN=0.6645;gnomAD_genome_NFE=0.7421;gnomAD_genome_OTH=0.7119;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:71:38:1095:32:919:-47.5593,0,-59.0862 +chr17 39913645 . T C 24270.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1106;CIGAR=1X;DP=1135;DPB=1135;DPRA=0;EPP=31.2826;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=34.972;MQMR=27.75;NS=1;NUMALT=1;ODDS=1509.55;PAIRED=0.910488;PAIREDR=0.25;PAO=0;PQA=0;PQR=0;PRO=0;QA=32036;QR=91;RO=4;RPL=246;RPP=743.188;RPPR=11.6962;RPR=860;RUN=1;SAF=625;SAP=43.7225;SAR=481;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.2;esp6500siv2_all=0.7936;esp6500siv2_ea=0.7456;esp6500siv2_all=0.7936;esp6500siv2_ea=0.7456;1000g2015aug_all=0.717252;avsnp147=rs7216034;Kaviar_AF=0.705741;Kaviar_AC=109109;Kaviar_AN=154602;ExAC_ALL=0.7100;ExAC_AFR=0.8991;ExAC_AMR=0.5018;ExAC_EAS=0.5053;ExAC_FIN=0.7154;ExAC_NFE=0.7393;ExAC_OTH=0.7004;ExAC_SAS=0.7234;CLNALLELEID=256165;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6975;gnomAD_exome_AFR=0.8964;gnomAD_exome_AMR=0.5183;gnomAD_exome_ASJ=0.7089;gnomAD_exome_EAS=0.5010;gnomAD_exome_FIN=0.7035;gnomAD_exome_NFE=0.7450;gnomAD_exome_OTH=0.6993;gnomAD_exome_SAS=0.7234;gnomAD_genome_ALL=0.7695;gnomAD_genome_AFR=0.8946;gnomAD_genome_AMR=0.5552;gnomAD_genome_ASJ=0.6954;gnomAD_genome_EAS=0.4938;gnomAD_genome_FIN=0.7183;gnomAD_genome_NFE=0.7532;gnomAD_genome_OTH=0.7444;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1135:4:91:1106:32036:-2514.7,-327.836,0 +chr17 39915057 . T C 12568 . AB=0.487678;ABP=5.04377;AC=1;AF=0.5;AN=2;AO=752;CIGAR=1X;DP=1542;DPB=1542;DPRA=0;EPP=153.119;EPPR=107.459;GTI=0;LEN=1;MEANALT=3;MQM=33.859;MQMR=34.0495;NS=1;NUMALT=1;ODDS=2605.53;PAIRED=0.859043;PAIREDR=0.828061;PAO=0;PQA=0;PQR=0;PRO=0;QA=22411;QR=21108;RO=727;RPL=458;RPP=80.6751;RPPR=100.864;RPR=294;RUN=1;SAF=456;SAP=76.9328;SAR=296;SRF=434;SRP=62.3928;SRR=293;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon9:c.A1563G:p.A521A,JUP:NM_021991:exon9:c.A1563G:p.A521A;cytoBand=17q21.2;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0042;esp6500siv2_all=0.0029;esp6500siv2_ea=0.0042;1000g2015aug_all=0.00239617;avsnp147=rs149926974;Kaviar_AF=0.0046118;Kaviar_AC=713;Kaviar_AN=154602;ExAC_ALL=0.0063;ExAC_AFR=0.0006;ExAC_AMR=0.0012;ExAC_EAS=0;ExAC_FIN=0.0542;ExAC_NFE=0.0064;ExAC_OTH=0.0055;ExAC_SAS=0.0009;CLNALLELEID=55002;CLNDN=Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0068;gnomAD_exome_AFR=0.0005;gnomAD_exome_AMR=0.0009;gnomAD_exome_ASJ=0.0004;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0478;gnomAD_exome_NFE=0.0050;gnomAD_exome_OTH=0.0045;gnomAD_exome_SAS=0.0008;gnomAD_genome_ALL=0.0123;gnomAD_genome_AFR=0.0011;gnomAD_genome_AMR=0.0012;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0483;gnomAD_genome_NFE=0.0116;gnomAD_genome_OTH=0.0286;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:1542:727:21108:752:22411:-1295.67,0,-1166.32 +chr17 39923614 . A G 12375.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=697;CIGAR=1X;DP=710;DPB=710;DPRA=0;EPP=400.072;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=29.9512;MQMR=42;NS=1;NUMALT=1;ODDS=939.287;PAIRED=0.822095;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=20915;QR=108;RO=3;RPL=102;RPP=760.219;RPPR=9.52472;RPR=595;RUN=1;SAF=627;SAP=969.577;SAR=70;SRF=2;SRP=3.73412;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.2;esp6500siv2_all=0.8343;esp6500siv2_ea=0.8084;esp6500siv2_all=0.8343;esp6500siv2_ea=0.8084;1000g2015aug_all=0.744209;avsnp147=rs12942034;Kaviar_AF=0.740928;Kaviar_AC=114549;Kaviar_AN=154602;ExAC_ALL=0.7638;ExAC_AFR=0.8954;ExAC_AMR=0.5086;ExAC_EAS=0.5023;ExAC_FIN=0.7981;ExAC_NFE=0.8096;ExAC_OTH=0.7633;ExAC_SAS=0.7960;CLNALLELEID=256168;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7522;gnomAD_exome_AFR=0.8927;gnomAD_exome_AMR=0.5305;gnomAD_exome_ASJ=0.8003;gnomAD_exome_EAS=0.4994;gnomAD_exome_FIN=0.7877;gnomAD_exome_NFE=0.8138;gnomAD_exome_OTH=0.7615;gnomAD_exome_SAS=0.7995;gnomAD_genome_ALL=0.8105;gnomAD_genome_AFR=0.8903;gnomAD_genome_AMR=0.5704;gnomAD_genome_ASJ=0.8033;gnomAD_genome_EAS=0.4975;gnomAD_genome_FIN=0.7995;gnomAD_genome_NFE=0.8146;gnomAD_genome_OTH=0.7980;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:710:3:108:697:20915:-1476.5,-201.206,0 +chr17 39925925 . A G 18163.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=881;CIGAR=1X;DP=893;DPB=893;DPRA=0;EPP=30.1845;EPPR=4.45795;GTI=0;LEN=1;MEANALT=3;MQM=33.0431;MQMR=28.8333;NS=1;NUMALT=1;ODDS=1179.53;PAIRED=0.876277;PAIREDR=0.833333;PAO=0;PQA=0;PQR=0;PRO=0;QA=25418;QR=146;RO=6;RPL=666;RPP=504.349;RPPR=8.80089;RPR=215;RUN=1;SAF=209;SAP=531.383;SAR=672;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon3:c.T213C:p.D71D,JUP:NM_021991:exon3:c.T213C:p.D71D;cytoBand=17q21.2;esp6500siv2_all=0.7956;esp6500siv2_ea=0.7552;esp6500siv2_all=0.7956;esp6500siv2_ea=0.7552;1000g2015aug_all=0.715655;avsnp147=rs7405731;Kaviar_AF=0.691272;Kaviar_AC=106872;Kaviar_AN=154602;ExAC_ALL=0.7364;ExAC_AFR=0.8888;ExAC_AMR=0.5461;ExAC_EAS=0.5325;ExAC_FIN=0.7068;ExAC_NFE=0.7622;ExAC_OTH=0.7446;ExAC_SAS=0.7603;CLNALLELEID=55010;CLNDN=Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC;CLNDISDB=MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7109;gnomAD_exome_AFR=0.8884;gnomAD_exome_AMR=0.5214;gnomAD_exome_ASJ=0.8254;gnomAD_exome_EAS=0.5099;gnomAD_exome_FIN=0.6806;gnomAD_exome_NFE=0.7581;gnomAD_exome_OTH=0.7264;gnomAD_exome_SAS=0.7585;gnomAD_genome_ALL=0.7654;gnomAD_genome_AFR=0.8828;gnomAD_genome_AMR=0.5632;gnomAD_genome_ASJ=0.8278;gnomAD_genome_EAS=0.5056;gnomAD_genome_FIN=0.6822;gnomAD_genome_NFE=0.7567;gnomAD_genome_OTH=0.7305;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:893:6:146:881:25418:-1929.64,-255.907,0 +chr17 48252804 . T C 23491.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1074;CIGAR=1X;DP=1095;DPB=1095;DPRA=0;EPP=61.4419;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=34.2244;MQMR=22.25;NS=1;NUMALT=1;ODDS=1467.83;PAIRED=0.91527;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=29855;QR=63;RO=4;RPL=531;RPP=3.30145;RPPR=3.0103;RPR=543;RUN=1;SAF=461;SAP=49.7232;SAR=613;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR3;Gene.refGene=SGCA;GeneDetail.refGene=NM_001135697:c.*6T>C,NM_000023:c.*6T>C;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q21.33;esp6500siv2_all=0.9049;esp6500siv2_ea=0.9589;esp6500siv2_all=0.9049;esp6500siv2_ea=0.9589;1000g2015aug_all=0.921925;avsnp147=rs2696288;Kaviar_AF=0.934264;Kaviar_AC=144439;Kaviar_AN=154602;ExAC_ALL=0.9566;ExAC_AFR=0.7952;ExAC_AMR=0.9776;ExAC_EAS=0.9998;ExAC_FIN=0.9661;ExAC_NFE=0.9620;ExAC_OTH=0.9644;ExAC_SAS=0.9894;CLNALLELEID=178065;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9589;gnomAD_exome_AFR=0.7931;gnomAD_exome_AMR=0.9714;gnomAD_exome_ASJ=0.9531;gnomAD_exome_EAS=0.9999;gnomAD_exome_FIN=0.9673;gnomAD_exome_NFE=0.9611;gnomAD_exome_OTH=0.9561;gnomAD_exome_SAS=0.9902;gnomAD_genome_ALL=0.9157;gnomAD_genome_AFR=0.7957;gnomAD_genome_AMR=0.9582;gnomAD_genome_ASJ=0.9503;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9665;gnomAD_genome_NFE=0.959;gnomAD_genome_OTH=0.9520;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1095:4:63:1074:29855:-2362.98,-320.077,0 +chr17 78078709 . T C 2752.92 . AB=0.502439;ABP=3.03149;AC=1;AF=0.5;AN=2;AO=206;CIGAR=1X;DP=410;DPB=410;DPRA=0;EPP=10.1361;EPPR=23.8137;GTI=0;LEN=1;MEANALT=3;MQM=28.5728;MQMR=27.8549;NS=1;NUMALT=1;ODDS=563.94;PAIRED=0.786408;PAIREDR=0.777202;PAO=0;PQA=0;PQR=0;PRO=0;QA=6165;QR=5822;RO=193;RPL=78;RPP=29.3631;RPPR=18.4131;RPR=128;RUN=1;SAF=152;SAP=104.247;SAR=54;SRF=136;SRP=73.2287;SRR=57;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon2:c.T324C:p.C108C,GAA:NM_001079804:exon2:c.T324C:p.C108C,GAA:NM_001079803:exon3:c.T324C:p.C108C;cytoBand=17q25.3;esp6500siv2_all=0.7316;esp6500siv2_ea=0.7490;esp6500siv2_all=0.7316;esp6500siv2_ea=0.7490;1000g2015aug_all=0.714457;avsnp147=rs1800300;Kaviar_AF=0.0031112;Kaviar_AC=481;Kaviar_AN=154602;ExAC_ALL=0.7367;ExAC_AFR=0.7094;ExAC_AMR=0.5074;ExAC_EAS=0.6370;ExAC_FIN=0.8006;ExAC_NFE=0.7654;ExAC_OTH=0.7609;ExAC_SAS=0.8214;CLNALLELEID=98393;CLNDN=Ciliary_dyskinesia|Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7238;gnomAD_exome_AFR=0.6994;gnomAD_exome_AMR=0.5130;gnomAD_exome_ASJ=0.7994;gnomAD_exome_EAS=0.6313;gnomAD_exome_FIN=0.8005;gnomAD_exome_NFE=0.7563;gnomAD_exome_OTH=0.7414;gnomAD_exome_SAS=0.8178;gnomAD_genome_ALL=0.7276;gnomAD_genome_AFR=0.6914;gnomAD_genome_AMR=0.5395;gnomAD_genome_ASJ=0.7881;gnomAD_genome_EAS=0.6167;gnomAD_genome_FIN=0.7908;gnomAD_genome_NFE=0.7533;gnomAD_genome_OTH=0.7571;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.282445;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:410:193:5822:206:6165:-296.398,0,-262.952 +chr17 78079544 . C G 8469.57 . AB=0.461426;ABP=20.7677;AC=1;AF=0.5;AN=2;AO=634;CIGAR=1X;DP=1374;DPB=1374;DPRA=0;EPP=24.9305;EPPR=49.9387;GTI=0;LEN=1;MEANALT=3;MQM=28.0268;MQMR=36.2379;NS=1;NUMALT=1;ODDS=1950.19;PAIRED=0.880126;PAIREDR=0.876902;PAO=0;PQA=0;PQR=0;PRO=0;QA=18329;QR=22676;RO=723;RPL=270;RPP=33.2739;RPPR=11.4469;RPR=364;RUN=1;SAF=349;SAP=17.0392;SAR=285;SRF=386;SRP=10.2215;SRR=337;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;esp6500siv2_all=0.6727;esp6500siv2_ea=0.7384;esp6500siv2_all=0.6727;esp6500siv2_ea=0.7384;1000g2015aug_all=0.602835;avsnp147=rs3816256;Kaviar_AF=0.664603;Kaviar_AC=102749;Kaviar_AN=154602;ExAC_ALL=0.6759;ExAC_AFR=0.5416;ExAC_AMR=0.4592;ExAC_EAS=0.5294;ExAC_FIN=0.7639;ExAC_NFE=0.7456;ExAC_OTH=0.7206;ExAC_SAS=0.6700;CLNALLELEID=98394;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6699;gnomAD_exome_AFR=0.5364;gnomAD_exome_AMR=0.4733;gnomAD_exome_ASJ=0.7791;gnomAD_exome_EAS=0.5312;gnomAD_exome_FIN=0.7615;gnomAD_exome_NFE=0.7402;gnomAD_exome_OTH=0.7065;gnomAD_exome_SAS=0.6696;gnomAD_genome_ALL=0.6678;gnomAD_genome_AFR=0.5358;gnomAD_genome_AMR=0.5036;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5399;gnomAD_genome_FIN=0.7600;gnomAD_genome_NFE=0.7400;gnomAD_genome_OTH=0.7260;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.319853::-0.261959;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1374:723:22676:634:18329:-863.017,0,-1415.26 +chr17 78079597 . A G 8454.69 . AB=0.484559;ABP=5.82683;AC=1;AF=0.5;AN=2;AO=659;CIGAR=1X;DP=1360;DPB=1360;DPRA=0;EPP=12.2662;EPPR=6.57702;GTI=0;LEN=1;MEANALT=3;MQM=27.1305;MQMR=35.5083;NS=1;NUMALT=1;ODDS=1946.76;PAIRED=0.860395;PAIREDR=0.853695;PAO=0;PQA=0;PQR=0;PRO=0;QA=18876;QR=19991;RO=663;RPL=460;RPP=227.476;RPPR=243.546;RPR=199;RUN=1;SAF=291;SAP=22.547;SAR=368;SRF=299;SRP=16.8481;SRR=364;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.A596G:p.H199R,GAA:NM_001079804:exon3:c.A596G:p.H199R,GAA:NM_001079803:exon4:c.A596G:p.H199R;cytoBand=17q25.3;esp6500siv2_all=0.6725;esp6500siv2_ea=0.7383;esp6500siv2_all=0.6725;esp6500siv2_ea=0.7383;1000g2015aug_all=0.600839;avsnp147=rs1042393;Kaviar_AF=0.670573;Kaviar_AC=103672;Kaviar_AN=154602;ExAC_ALL=0.6746;ExAC_AFR=0.5412;ExAC_AMR=0.4591;ExAC_EAS=0.5293;ExAC_FIN=0.7637;ExAC_NFE=0.7455;ExAC_OTH=0.7173;ExAC_SAS=0.6618;CLNALLELEID=98395;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.702;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.263;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-2.92;MutationAssessor_pred=N;FATHMM_score=-1.42;FATHMM_pred=T;PROVEAN_score=1.71;PROVEAN_pred=N;VEST3_score=0.174;CADD_raw=-1.974;CADD_phred=0.001;DANN_score=0.420;fathmm-MKL_coding_score=0.024;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.892;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=-2.36;phyloP7way_vertebrate=-0.362;phyloP20way_mammalian=-0.388;phastCons7way_vertebrate=0.018;phastCons20way_mammalian=0.006;SiPhy_29way_logOdds=12.466;hgmdPRO=.;gnomAD_exome_ALL=0.6686;gnomAD_exome_AFR=0.5362;gnomAD_exome_AMR=0.4734;gnomAD_exome_ASJ=0.7789;gnomAD_exome_EAS=0.5311;gnomAD_exome_FIN=0.7610;gnomAD_exome_NFE=0.7402;gnomAD_exome_OTH=0.7061;gnomAD_exome_SAS=0.6616;gnomAD_genome_ALL=0.6677;gnomAD_genome_AFR=0.5355;gnomAD_genome_AMR=0.5048;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5391;gnomAD_genome_FIN=0.7599;gnomAD_genome_NFE=0.7399;gnomAD_genome_OTH=0.7270;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.319853::-0.261959;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1360:663:19991:659:18876:-879.57,0,-1174.88 +chr17 78079643 . C T 6097.72 . AB=0.472376;ABP=10.2086;AC=1;AF=0.5;AN=2;AO=513;CIGAR=1X;DP=1086;DPB=1086;DPRA=0;EPP=11.5819;EPPR=23.6274;GTI=0;LEN=1;MEANALT=3;MQM=26.5341;MQMR=31.5385;NS=1;NUMALT=1;ODDS=1404.05;PAIRED=0.82846;PAIREDR=0.791209;PAO=0;PQA=0;PQR=0;PRO=0;QA=14227;QR=16916;RO=546;RPL=228;RPP=16.763;RPPR=120.668;RPR=285;RUN=1;SAF=237;SAP=9.44853;SAR=276;SRF=276;SRP=3.15347;SRR=270;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.C642T:p.S214S,GAA:NM_001079804:exon3:c.C642T:p.S214S,GAA:NM_001079803:exon4:c.C642T:p.S214S;cytoBand=17q25.3;esp6500siv2_all=0.1722;esp6500siv2_ea=0.22;esp6500siv2_all=0.1722;esp6500siv2_ea=0.22;1000g2015aug_all=0.10603;avsnp147=rs1800301;Kaviar_AF=0.178484;Kaviar_AC=27594;Kaviar_AN=154602;ExAC_ALL=0.1802;ExAC_AFR=0.0762;ExAC_AMR=0.0961;ExAC_EAS=0.0009;ExAC_FIN=0.2508;ExAC_NFE=0.2307;ExAC_OTH=0.1939;ExAC_SAS=0.1673;CLNALLELEID=98396;CLNDN=Glycogen_storage_disease,_type_II|not_specified|not_provided;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1790;gnomAD_exome_AFR=0.0710;gnomAD_exome_AMR=0.0990;gnomAD_exome_ASJ=0.2994;gnomAD_exome_EAS=0.0006;gnomAD_exome_FIN=0.2432;gnomAD_exome_NFE=0.2254;gnomAD_exome_OTH=0.2045;gnomAD_exome_SAS=0.1709;gnomAD_genome_ALL=0.1648;gnomAD_genome_AFR=0.0746;gnomAD_genome_AMR=0.1136;gnomAD_genome_ASJ=0.3133;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.2534;gnomAD_genome_NFE=0.2138;gnomAD_genome_OTH=0.1714;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1086:546:16916:513:14227:-620.841,0,-894.445 +chr17 78079669 . G A 4916.67 . AB=0.43251;ABP=44.6316;AC=1;AF=0.5;AN=2;AO=455;CIGAR=1X;DP=1052;DPB=1052;DPRA=0;EPP=55.6267;EPPR=25.588;GTI=0;LEN=1;MEANALT=3;MQM=27.011;MQMR=31.2847;NS=1;NUMALT=1;ODDS=1132.11;PAIRED=0.802198;PAIREDR=0.794824;PAO=0;PQA=0;PQR=0;PRO=0;QA=12164;QR=17267;RO=541;RPL=211;RPP=8.20752;RPPR=7.38134;RPR=244;RUN=1;SAF=187;SAP=34.3225;SAR=268;SRF=272;SRP=3.04642;SRR=269;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon3:c.G668A:p.R223H,GAA:NM_001079804:exon3:c.G668A:p.R223H,GAA:NM_001079803:exon4:c.G668A:p.R223H;cytoBand=17q25.3;esp6500siv2_all=0.6724;esp6500siv2_ea=0.7381;esp6500siv2_all=0.6724;esp6500siv2_ea=0.7381;1000g2015aug_all=0.602436;avsnp147=rs1042395;Kaviar_AF=0.667863;Kaviar_AC=103253;Kaviar_AN=154602;ExAC_ALL=0.6760;ExAC_AFR=0.5423;ExAC_AMR=0.4590;ExAC_EAS=0.5291;ExAC_FIN=0.7654;ExAC_NFE=0.7460;ExAC_OTH=0.7170;ExAC_SAS=0.6701;CLNALLELEID=98397;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.539;SIFT_pred=T;Polyphen2_HDIV_score=0.206;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.022;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_pred=D;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=2.27;MutationAssessor_pred=M;FATHMM_score=-2.0;FATHMM_pred=D;PROVEAN_score=-1.61;PROVEAN_pred=N;VEST3_score=0.37;CADD_raw=1.133;CADD_phred=11.39;DANN_score=0.799;fathmm-MKL_coding_score=0.219;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.910;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.696;integrated_confidence_value=0;GERP++_RS=1.76;phyloP7way_vertebrate=-0.045;phyloP20way_mammalian=0.953;phastCons7way_vertebrate=0.008;phastCons20way_mammalian=0.204;SiPhy_29way_logOdds=10.855;hgmdPRO=.;gnomAD_exome_ALL=0.6675;gnomAD_exome_AFR=0.5363;gnomAD_exome_AMR=0.4730;gnomAD_exome_ASJ=0.7785;gnomAD_exome_EAS=0.5302;gnomAD_exome_FIN=0.7560;gnomAD_exome_NFE=0.7402;gnomAD_exome_OTH=0.7061;gnomAD_exome_SAS=0.6694;gnomAD_genome_ALL=0.6676;gnomAD_genome_AFR=0.5359;gnomAD_genome_AMR=0.5036;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5360;gnomAD_genome_FIN=0.7597;gnomAD_genome_NFE=0.7398;gnomAD_genome_OTH=0.7271;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.319853::-0.261959;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1052:541:17267:455:12164:-510.117,0,-916.086 +chr17 78081707 . G A 4678.22 . AB=0.431929;ABP=44.1024;AC=1;AF=0.5;AN=2;AO=441;CIGAR=1X;DP=1021;DPB=1021;DPRA=0;EPP=3.40914;EPPR=20.6578;GTI=0;LEN=1;MEANALT=3;MQM=28.1179;MQMR=29.0298;NS=1;NUMALT=1;ODDS=1077.2;PAIRED=0.929705;PAIREDR=0.873016;PAO=0;PQA=0;PQR=0;PRO=0;QA=11683;QR=14559;RO=504;RPL=319;RPP=194.105;RPPR=92.3509;RPR=122;RUN=1;SAF=132;SAP=157.273;SAR=309;SRF=160;SRP=148.878;SRR=344;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;esp6500siv2_all=0.6908;esp6500siv2_ea=0.7545;esp6500siv2_all=0.6908;esp6500siv2_ea=0.7545;1000g2015aug_all=0.604433;avsnp147=rs2252455;Kaviar_AF=0.6232;Kaviar_AC=96348;Kaviar_AN=154602;ExAC_ALL=0.7503;ExAC_AFR=0.6361;ExAC_AMR=0.6277;ExAC_EAS=0.6317;ExAC_FIN=0.8270;ExAC_NFE=0.7978;ExAC_OTH=0.7732;ExAC_SAS=0.7114;CLNALLELEID=98400;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6960;gnomAD_exome_AFR=0.5745;gnomAD_exome_AMR=0.5063;gnomAD_exome_ASJ=0.7851;gnomAD_exome_EAS=0.5622;gnomAD_exome_FIN=0.7793;gnomAD_exome_NFE=0.7644;gnomAD_exome_OTH=0.7204;gnomAD_exome_SAS=0.6897;gnomAD_genome_ALL=0.6664;gnomAD_genome_AFR=0.5312;gnomAD_genome_AMR=0.5048;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5379;gnomAD_genome_FIN=0.7603;gnomAD_genome_NFE=0.7398;gnomAD_genome_OTH=0.7255;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1021:504:14559:441:11683:-512.207,0,-740.646 +chr17 78082504 . G A 4574.04 . AB=0.470238;ABP=9.47302;AC=1;AF=0.5;AN=2;AO=395;CIGAR=1X;DP=840;DPB=840;DPRA=0;EPP=7.0179;EPPR=85.4506;GTI=0;LEN=1;MEANALT=3;MQM=33.7468;MQMR=33.9276;NS=1;NUMALT=1;ODDS=1053.21;PAIRED=0.865823;PAIREDR=0.812332;PAO=0;PQA=0;PQR=0;PRO=0;QA=9930;QR=10561;RO=373;RPL=10;RPP=776.082;RPPR=720.242;RPR=385;RUN=1;SAF=184;SAP=7.0179;SAR=211;SRF=130;SRP=77.3468;SRR=243;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon8:c.G1203A:p.Q401Q,GAA:NM_001079804:exon8:c.G1203A:p.Q401Q,GAA:NM_001079803:exon9:c.G1203A:p.Q401Q;cytoBand=17q25.3;esp6500siv2_all=0.6708;esp6500siv2_ea=0.7380;esp6500siv2_all=0.6708;esp6500siv2_ea=0.7380;1000g2015aug_all=0.602835;avsnp147=rs1800304;Kaviar_AF=0.668859;Kaviar_AC=103407;Kaviar_AN=154602;ExAC_ALL=0.6784;ExAC_AFR=0.5436;ExAC_AMR=0.4620;ExAC_EAS=0.5320;ExAC_FIN=0.7669;ExAC_NFE=0.7474;ExAC_OTH=0.7209;ExAC_SAS=0.6766;CLNALLELEID=98370;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6705;gnomAD_exome_AFR=0.5285;gnomAD_exome_AMR=0.4726;gnomAD_exome_ASJ=0.7785;gnomAD_exome_EAS=0.5311;gnomAD_exome_FIN=0.7664;gnomAD_exome_NFE=0.7401;gnomAD_exome_OTH=0.7058;gnomAD_exome_SAS=0.6747;gnomAD_genome_ALL=0.6654;gnomAD_genome_AFR=0.5298;gnomAD_genome_AMR=0.5048;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5362;gnomAD_genome_FIN=0.7605;gnomAD_genome_NFE=0.7392;gnomAD_genome_OTH=0.7253;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:840:373:10561:395:9930:-564.226,0,-596.236 +chr17 78083726 . A G 7459.23 . AB=0.495085;ABP=3.24511;AC=1;AF=0.5;AN=2;AO=554;CIGAR=1X;DP=1119;DPB=1119;DPRA=0;EPP=31.9998;EPPR=20.5189;GTI=0;LEN=1;MEANALT=3;MQM=29.6859;MQMR=32.8248;NS=1;NUMALT=1;ODDS=1705.33;PAIRED=0.833935;PAIREDR=0.832677;PAO=0;PQA=0;PQR=0;PRO=0;QA=15008;QR=14601;RO=508;RPL=275;RPP=3.07301;RPPR=84.4149;RPR=279;RUN=1;SAF=333;SAP=52.1781;SAR=221;SRF=325;SRP=89.2024;SRR=183;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;esp6500siv2_all=0.7302;esp6500siv2_ea=0.7486;esp6500siv2_all=0.7302;esp6500siv2_ea=0.7486;1000g2015aug_all=0.711661;avsnp147=rs2278619;Kaviar_AF=0.720638;Kaviar_AC=111412;Kaviar_AN=154602;ExAC_ALL=0.7312;ExAC_AFR=0.7012;ExAC_AMR=0.4984;ExAC_EAS=0.6277;ExAC_FIN=0.7962;ExAC_NFE=0.7619;ExAC_OTH=0.7607;ExAC_SAS=0.8174;CLNALLELEID=98371;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7213;gnomAD_exome_AFR=0.6935;gnomAD_exome_AMR=0.5097;gnomAD_exome_ASJ=0.8022;gnomAD_exome_EAS=0.6247;gnomAD_exome_FIN=0.7988;gnomAD_exome_NFE=0.7547;gnomAD_exome_OTH=0.7411;gnomAD_exome_SAS=0.8137;gnomAD_genome_ALL=0.7260;gnomAD_genome_AFR=0.6869;gnomAD_genome_AMR=0.5371;gnomAD_genome_ASJ=0.7914;gnomAD_genome_EAS=0.6153;gnomAD_genome_FIN=0.7912;gnomAD_genome_NFE=0.7528;gnomAD_genome_OTH=0.7571;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.262501;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1119:508:14601:554:15008:-762.23,0,-767.711 +chr17 78084507 . G C 7162.11 . AB=0.484904;ABP=5.17383;AC=1;AF=0.5;AN=2;AO=530;CIGAR=1X;DP=1093;DPB=1093;DPRA=0;EPP=19.7921;EPPR=30.0614;GTI=0;LEN=1;MEANALT=3;MQM=29.8151;MQMR=31.6998;NS=1;NUMALT=1;ODDS=1649.14;PAIRED=0.866038;PAIREDR=0.815552;PAO=0;PQA=0;PQR=0;PRO=0;QA=15203;QR=17184;RO=553;RPL=160;RPP=183.693;RPPR=238.711;RPR=370;RUN=1;SAF=343;SAP=102.718;SAR=187;SRF=346;SRP=78.8783;SRR=207;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;esp6500siv2_all=0.6703;esp6500siv2_ea=0.7379;esp6500siv2_all=0.6703;esp6500siv2_ea=0.7379;1000g2015aug_all=0.603035;avsnp147=rs2304844;Kaviar_AF=0.661958;Kaviar_AC=102340;Kaviar_AN=154602;ExAC_ALL=0.6760;ExAC_AFR=0.5371;ExAC_AMR=0.4598;ExAC_EAS=0.5284;ExAC_FIN=0.7638;ExAC_NFE=0.7454;ExAC_OTH=0.7221;ExAC_SAS=0.6753;CLNALLELEID=98373;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.6707;gnomAD_exome_AFR=0.5300;gnomAD_exome_AMR=0.4729;gnomAD_exome_ASJ=0.7790;gnomAD_exome_EAS=0.5309;gnomAD_exome_FIN=0.7662;gnomAD_exome_NFE=0.7399;gnomAD_exome_OTH=0.7066;gnomAD_exome_SAS=0.6748;gnomAD_genome_ALL=0.6658;gnomAD_genome_AFR=0.5306;gnomAD_genome_AMR=0.5060;gnomAD_genome_ASJ=0.7748;gnomAD_genome_EAS=0.5385;gnomAD_genome_FIN=0.7599;gnomAD_genome_NFE=0.7392;gnomAD_genome_OTH=0.7251;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1093:553:17184:530:15203:-754.629,0,-924.536 +chr17 78086846 . A G 621.273 . AB=0.467742;ABP=4.69144;AC=1;AF=0.5;AN=2;AO=87;CIGAR=1X;DP=186;DPB=186;DPRA=0;EPP=49.1603;EPPR=5.47788;GTI=0;LEN=1;MEANALT=3;MQM=22.1149;MQMR=24.6705;NS=1;NUMALT=1;ODDS=143.053;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2241;QR=2366;RO=88;RPL=56;RPP=18.61;RPPR=3.109;RPR=31;RUN=1;SAF=56;SAP=18.61;SAR=31;SRF=42;SRP=3.40511;SRR=46;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;esp6500siv2_all=0.7334;esp6500siv2_ea=0.7513;esp6500siv2_all=0.7334;esp6500siv2_ea=0.7513;1000g2015aug_all=0.715056;avsnp147=rs2304836;Kaviar_AF=0.67818;Kaviar_AC=104848;Kaviar_AN=154602;ExAC_ALL=0.7441;ExAC_AFR=0.7104;ExAC_AMR=0.5379;ExAC_EAS=0.6412;ExAC_FIN=0.7884;ExAC_NFE=0.7704;ExAC_OTH=0.7727;ExAC_SAS=0.8230;CLNALLELEID=98379;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=id:CS152218#"Glycogen_storage_disease_2";gnomAD_exome_ALL=0.7196;gnomAD_exome_AFR=0.6923;gnomAD_exome_AMR=0.5136;gnomAD_exome_ASJ=0.7971;gnomAD_exome_EAS=0.6246;gnomAD_exome_FIN=0.7935;gnomAD_exome_NFE=0.7547;gnomAD_exome_OTH=0.7412;gnomAD_exome_SAS=0.8145;gnomAD_genome_ALL=0.7271;gnomAD_genome_AFR=0.6921;gnomAD_genome_AMR=0.5394;gnomAD_genome_ASJ=0.7881;gnomAD_genome_EAS=0.6138;gnomAD_genome_FIN=0.7903;gnomAD_genome_NFE=0.7524;gnomAD_genome_OTH=0.7551;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.282445;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:186:88:2366:87:2241:-76.447,0,-89.2822 +chr17 78087109 . A G 10051.5 . AB=0.563162;ABP=45.5283;AC=1;AF=0.5;AN=2;AO=691;CIGAR=1X;DP=1227;DPB=1227;DPRA=0;EPP=3.03858;EPPR=33.4871;GTI=0;LEN=1;MEANALT=3;MQM=29.1447;MQMR=31.9561;NS=1;NUMALT=1;ODDS=1360.09;PAIRED=0.788712;PAIREDR=0.739035;PAO=0;PQA=0;PQR=0;PRO=0;QA=19325;QR=12975;RO=456;RPL=313;RPP=16.2874;RPPR=62.7448;RPR=378;RUN=1;SAF=337;SAP=3.91848;SAR=354;SRF=246;SRP=9.18185;SRR=210;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon15:c.A2133G:p.T711T,GAA:NM_001079804:exon15:c.A2133G:p.T711T,GAA:NM_001079803:exon16:c.A2133G:p.T711T;cytoBand=17q25.3;esp6500siv2_all=0.2255;esp6500siv2_ea=0.2793;esp6500siv2_all=0.2255;esp6500siv2_ea=0.2793;1000g2015aug_all=0.241613;avsnp147=rs1800310;Kaviar_AF=0.244932;Kaviar_AC=37867;Kaviar_AN=154602;ExAC_ALL=0.3423;ExAC_AFR=0.1521;ExAC_AMR=0.2329;ExAC_EAS=0.4253;ExAC_FIN=0.4765;ExAC_NFE=0.3708;ExAC_OTH=0.3548;ExAC_SAS=0.3212;CLNALLELEID=98382;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2710;gnomAD_exome_AFR=0.1089;gnomAD_exome_AMR=0.1537;gnomAD_exome_ASJ=0.3451;gnomAD_exome_EAS=0.3613;gnomAD_exome_FIN=0.3546;gnomAD_exome_NFE=0.2879;gnomAD_exome_OTH=0.2933;gnomAD_exome_SAS=0.2833;gnomAD_genome_ALL=0.2537;gnomAD_genome_AFR=0.1149;gnomAD_genome_AMR=0.1659;gnomAD_genome_ASJ=0.3609;gnomAD_genome_EAS=0.3680;gnomAD_genome_FIN=0.3702;gnomAD_genome_NFE=0.2959;gnomAD_genome_OTH=0.2825;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1227:456:12975:691:19325:-1025.27,0,-618.805 +chr17 78090928 . G A 4733.42 . AB=0.462772;ABP=13.5194;AC=1;AF=0.5;AN=2;AO=404;CIGAR=1X;DP=873;DPB=873;DPRA=0;EPP=6.10626;EPPR=3.56144;GTI=0;LEN=1;MEANALT=3;MQM=32.3639;MQMR=31.901;NS=1;NUMALT=1;ODDS=1089.91;PAIRED=0.913366;PAIREDR=0.865482;PAO=0;PQA=0;PQR=0;PRO=0;QA=9530;QR=11432;RO=394;RPL=280;RPP=133.815;RPPR=140.596;RPR=124;RUN=1;SAF=168;SAP=27.864;SAR=236;SRF=164;SRP=27.0177;SRR=230;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=17q25.3;esp6500siv2_all=0.8192;esp6500siv2_ea=0.7530;esp6500siv2_all=0.8192;esp6500siv2_ea=0.7530;1000g2015aug_all=0.789337;avsnp147=rs2304832;Kaviar_AF=0.73446;Kaviar_AC=113549;Kaviar_AN=154602;ExAC_ALL=0.7570;ExAC_AFR=0.9552;ExAC_AMR=0.5146;ExAC_EAS=0.6202;ExAC_FIN=0.7973;ExAC_NFE=0.7669;ExAC_OTH=0.7730;ExAC_SAS=0.8170;CLNALLELEID=98383;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7420;gnomAD_exome_AFR=0.9557;gnomAD_exome_AMR=0.5273;gnomAD_exome_ASJ=0.8231;gnomAD_exome_EAS=0.6216;gnomAD_exome_FIN=0.7999;gnomAD_exome_NFE=0.7581;gnomAD_exome_OTH=0.7599;gnomAD_exome_SAS=0.8134;gnomAD_genome_ALL=0.8011;gnomAD_genome_AFR=0.9463;gnomAD_genome_AMR=0.5562;gnomAD_genome_ASJ=0.8113;gnomAD_genome_EAS=0.6060;gnomAD_genome_FIN=0.7912;gnomAD_genome_NFE=0.7546;gnomAD_genome_OTH=0.7802;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.253676::-0.296557;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:873:394:11432:404:9530:-497.314,0,-620.954 +chr17 78091405 . G A 5099.03 . AB=0.431705;ABP=43.6448;AC=1;AF=0.5;AN=2;AO=433;CIGAR=1X;DP=1003;DPB=1003;DPRA=0;EPP=4.8207;EPPR=26.1077;GTI=0;LEN=1;MEANALT=3;MQM=28.7298;MQMR=27.7984;NS=1;NUMALT=1;ODDS=1174.09;PAIRED=0.808314;PAIREDR=0.864271;PAO=0;PQA=0;PQR=0;PRO=0;QA=11271;QR=14463;RO=501;RPL=217;RPP=3.01531;RPPR=26.1077;RPR=216;RUN=1;SAF=218;SAP=3.05543;SAR=215;SRF=260;SRP=4.57497;SRR=241;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GAA:NM_000152:exon17:c.G2338A:p.V780I,GAA:NM_001079804:exon17:c.G2338A:p.V780I,GAA:NM_001079803:exon18:c.G2338A:p.V780I;cytoBand=17q25.3;esp6500siv2_all=0.7332;esp6500siv2_ea=0.7499;esp6500siv2_all=0.7332;esp6500siv2_ea=0.7499;1000g2015aug_all=0.711861;avsnp147=rs1126690;Kaviar_AF=0.720676;Kaviar_AC=111418;Kaviar_AN=154602;ExAC_ALL=0.7296;ExAC_AFR=0.7010;ExAC_AMR=0.4712;ExAC_EAS=0.6212;ExAC_FIN=0.7962;ExAC_NFE=0.7645;ExAC_OTH=0.7617;ExAC_SAS=0.8168;CLNALLELEID=98385;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.593;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=0.508;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.55;MutationAssessor_pred=N;FATHMM_score=-2.58;FATHMM_pred=D;PROVEAN_score=0.01;PROVEAN_pred=N;VEST3_score=0.058;CADD_raw=-0.394;CADD_phred=0.400;DANN_score=0.651;fathmm-MKL_coding_score=0.026;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.975;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=-2.09;phyloP7way_vertebrate=-1.016;phyloP20way_mammalian=-0.437;phastCons7way_vertebrate=0.004;phastCons20way_mammalian=0.213;SiPhy_29way_logOdds=5.965;hgmdPRO=.;gnomAD_exome_ALL=0.7182;gnomAD_exome_AFR=0.6946;gnomAD_exome_AMR=0.4860;gnomAD_exome_ASJ=0.7993;gnomAD_exome_EAS=0.6209;gnomAD_exome_FIN=0.7983;gnomAD_exome_NFE=0.7566;gnomAD_exome_OTH=0.7403;gnomAD_exome_SAS=0.8130;gnomAD_genome_ALL=0.7265;gnomAD_genome_AFR=0.6930;gnomAD_genome_AMR=0.5144;gnomAD_genome_ASJ=0.7867;gnomAD_genome_EAS=0.6057;gnomAD_genome_FIN=0.7902;gnomAD_genome_NFE=0.7527;gnomAD_genome_OTH=0.7582;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.286765::-0.282445;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1003:501:14463:433:11271:-518.996,0,-680.17 +chr17 78092063 . G A 8398.69 . AB=0.447462;ABP=36.5509;AC=1;AF=0.5;AN=2;AO=626;CIGAR=1X;DP=1399;DPB=1399;DPRA=0;EPP=40.5289;EPPR=4.00402;GTI=0;LEN=1;MEANALT=3;MQM=31.3387;MQMR=30.1836;NS=1;NUMALT=1;ODDS=1933.87;PAIRED=0.803514;PAIREDR=0.80226;PAO=0;PQA=0;PQR=0;PRO=0;QA=16992;QR=21920;RO=708;RPL=377;RPP=59.8432;RPPR=17.1923;RPR=249;RUN=1;SAF=264;SAP=36.3247;SAR=362;SRF=337;SRP=6.55581;SRR=371;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GAA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GAA:NM_000152:exon18:c.G2553A:p.G851G,GAA:NM_001079804:exon18:c.G2553A:p.G851G,GAA:NM_001079803:exon19:c.G2553A:p.G851G;cytoBand=17q25.3;esp6500siv2_all=0.6048;esp6500siv2_ea=0.6427;esp6500siv2_all=0.6048;esp6500siv2_ea=0.6427;1000g2015aug_all=0.509385;avsnp147=rs1042397;Kaviar_AF=0.574527;Kaviar_AC=88823;Kaviar_AN=154602;ExAC_ALL=0.5805;ExAC_AFR=0.5401;ExAC_AMR=0.4184;ExAC_EAS=0.2798;ExAC_FIN=0.6494;ExAC_NFE=0.6465;ExAC_OTH=0.6230;ExAC_SAS=0.5826;CLNALLELEID=98390;CLNDN=Glycogen_storage_disease,_type_II|not_specified;CLNDISDB=MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5725;gnomAD_exome_AFR=0.5316;gnomAD_exome_AMR=0.4295;gnomAD_exome_ASJ=0.7024;gnomAD_exome_EAS=0.2786;gnomAD_exome_FIN=0.6486;gnomAD_exome_NFE=0.6386;gnomAD_exome_OTH=0.6106;gnomAD_exome_SAS=0.5727;gnomAD_genome_ALL=0.5779;gnomAD_genome_AFR=0.5344;gnomAD_genome_AMR=0.4642;gnomAD_genome_ASJ=0.6821;gnomAD_genome_EAS=0.2735;gnomAD_genome_FIN=0.6269;gnomAD_genome_NFE=0.6279;gnomAD_genome_OTH=0.5973;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.414773::-0.294693;Heart_Left_Ventricle=Heart_Left_Ventricle::0.395221::-0.26054;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:1399:708:21920:626:16992:-861.931,0,-1118.91 +chr18 3075503 . CG CAAAG 17687.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=852;CIGAR=1M3I1M;DP=981;DPB=2327.5;DPRA=0;EPP=130.893;EPPR=5.18177;GTI=0;LEN=3;MEANALT=24;MQM=39.4484;MQMR=3;NS=1;NUMALT=1;ODDS=1212.36;PAIRED=0.994131;PAIREDR=1;PAO=11;PQA=45.5;PQR=45.5;PRO=11;QA=20540;QR=14;RO=1;RPL=382;RPP=22.7473;RPPR=5.18177;RPR=470;RUN=1;SAF=396;SAP=12.1855;SAR=456;SRF=1;SRP=5.18177;SRR=0;TYPE=ins;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;esp6500siv2_all=0.9949;esp6500siv2_ea=0.9933;esp6500siv2_all=0.9949;esp6500siv2_ea=0.9933;1000g2015aug_all=0.992612;avsnp147=rs10667835;Kaviar_AF=0.0978771;Kaviar_AC=15132;Kaviar_AN=154602;ExAC_ALL=0.9961;ExAC_AFR=0.9993;ExAC_AMR=0.9976;ExAC_EAS=1;ExAC_FIN=0.9930;ExAC_NFE=0.9942;ExAC_OTH=0.9989;ExAC_SAS=1;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.9956;gnomAD_exome_AFR=0.9993;gnomAD_exome_AMR=0.9969;gnomAD_exome_ASJ=0.9987;gnomAD_exome_EAS=1;gnomAD_exome_FIN=0.9922;gnomAD_exome_NFE=0.9933;gnomAD_exome_OTH=0.9953;gnomAD_exome_SAS=1.0000;gnomAD_genome_ALL=0.9949;gnomAD_genome_AFR=0.9987;gnomAD_genome_AMR=0.9940;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=0.9920;gnomAD_genome_NFE=0.9926;gnomAD_genome_OTH=0.9969;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:981:1:14:852:20540:-1788.35,-269.77,0 +chr18 3089522 . G T 16725.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=731;CIGAR=1X;DP=750;DPB=750;DPRA=0;EPP=272.145;EPPR=9.04217;GTI=0;LEN=1;MEANALT=3;MQM=40.7415;MQMR=39.7778;NS=1;NUMALT=1;ODDS=943.835;PAIRED=0.98632;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=19767;QR=228;RO=9;RPL=300;RPP=53.9879;RPPR=9.04217;RPR=431;RUN=1;SAF=327;SAP=20.6227;SAR=404;SRF=4;SRP=3.25157;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;esp6500siv2_all=0.8073;esp6500siv2_ea=0.7970;esp6500siv2_all=0.8073;esp6500siv2_ea=0.7970;1000g2015aug_all=0.800319;avsnp147=rs948298;Kaviar_AF=0.0032535;Kaviar_AC=503;Kaviar_AN=154602;ExAC_ALL=0.8092;ExAC_AFR=0.8326;ExAC_AMR=0.9135;ExAC_EAS=0.7246;ExAC_FIN=0.8406;ExAC_NFE=0.8049;ExAC_OTH=0.8539;ExAC_SAS=0.7684;CLNALLELEID=230819;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.8126;gnomAD_exome_AFR=0.8344;gnomAD_exome_AMR=0.9086;gnomAD_exome_ASJ=0.8367;gnomAD_exome_EAS=0.7191;gnomAD_exome_FIN=0.8353;gnomAD_exome_NFE=0.7995;gnomAD_exome_OTH=0.8214;gnomAD_exome_SAS=0.7710;gnomAD_genome_ALL=0.8205;gnomAD_genome_AFR=0.8310;gnomAD_genome_AMR=0.9081;gnomAD_genome_ASJ=0.8576;gnomAD_genome_EAS=0.7138;gnomAD_genome_FIN=0.8342;gnomAD_genome_NFE=0.8176;gnomAD_genome_OTH=0.8126;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:750:9:228:731:19767:-1708.79,-202.467,0 +chr18 3100429 . G A 14186.3 . AB=0.492424;ABP=3.73412;AC=1;AF=0.5;AN=2;AO=715;CIGAR=1X;DP=1452;DPB=1452;DPRA=0;EPP=37.7812;EPPR=28.5015;GTI=0;LEN=1;MEANALT=3;MQM=38.7357;MQMR=39.4855;NS=1;NUMALT=1;ODDS=3031.25;PAIRED=0.962238;PAIREDR=0.968116;PAO=0;PQA=0;PQR=0;PRO=0;QA=22051;QR=20549;RO=690;RPL=403;RPP=28.1599;RPPR=3.62712;RPR=312;RUN=1;SAF=277;SAP=81.733;SAR=438;SRF=258;SRP=98.2907;SRR=432;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18p11.31;esp6500siv2_all=0.3670;esp6500siv2_ea=0.4470;esp6500siv2_all=0.3670;esp6500siv2_ea=0.4470;1000g2015aug_all=0.348043;avsnp147=rs7232329;Kaviar_AF=0.407026;Kaviar_AC=62927;Kaviar_AN=154602;ExAC_ALL=0.4422;ExAC_AFR=0.2055;ExAC_AMR=0.6156;ExAC_EAS=0.3853;ExAC_FIN=0.3915;ExAC_NFE=0.4710;ExAC_OTH=0.4844;ExAC_SAS=0.3913;CLNALLELEID=230821;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4264;gnomAD_exome_AFR=0.1867;gnomAD_exome_AMR=0.5790;gnomAD_exome_ASJ=0.4659;gnomAD_exome_EAS=0.3600;gnomAD_exome_FIN=0.3554;gnomAD_exome_NFE=0.4467;gnomAD_exome_OTH=0.4542;gnomAD_exome_SAS=0.3764;gnomAD_genome_ALL=0.3547;gnomAD_genome_AFR=0.1817;gnomAD_genome_AMR=0.5815;gnomAD_genome_ASJ=0.5067;gnomAD_genome_EAS=0.3491;gnomAD_genome_FIN=0.3473;gnomAD_genome_NFE=0.4390;gnomAD_genome_OTH=0.3980;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1452:690:20549:715:22051:-1440.91,0,-1337.01 +chr18 3126811 . A G 14853.3 . AB=0.504353;ABP=3.27498;AC=1;AF=0.5;AN=2;AO=811;CIGAR=1X;DP=1608;DPB=1608;DPRA=0;EPP=166.363;EPPR=203.591;GTI=0;LEN=1;MEANALT=3;MQM=38.8064;MQMR=38.9086;NS=1;NUMALT=1;ODDS=3293.66;PAIRED=0.970407;PAIREDR=0.953003;PAO=0;PQA=0;PQR=0;PRO=0;QA=23300;QR=22796;RO=766;RPL=395;RPP=4.19109;RPPR=3.92878;RPR=416;RUN=1;SAF=391;SAP=5.2621;SAR=420;SRF=368;SRP=5.56164;SRR=398;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_019856:exon18:c.T2591C:p.I864T,MYOM1:NM_003803:exon19:c.T2879C:p.I960T;cytoBand=18p11.31;esp6500siv2_all=0.1796;esp6500siv2_ea=0.1415;esp6500siv2_all=0.1796;esp6500siv2_ea=0.1415;1000g2015aug_all=0.254393;avsnp147=rs1071600;Kaviar_AF=0.184202;Kaviar_AC=28478;Kaviar_AN=154602;ExAC_ALL=0.1997;ExAC_AFR=0.2747;ExAC_AMR=0.2458;ExAC_EAS=0.3306;ExAC_FIN=0.1835;ExAC_NFE=0.1523;ExAC_OTH=0.1863;ExAC_SAS=0.2538;CLNALLELEID=230838;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-1.025;MutationAssessor_pred=N;FATHMM_score=0.57;FATHMM_pred=T;PROVEAN_score=1.69;PROVEAN_pred=N;VEST3_score=0.012;CADD_raw=0.079;CADD_phred=3.381;DANN_score=0.599;fathmm-MKL_coding_score=0.099;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.949;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.595;integrated_confidence_value=0;GERP++_RS=1.43;phyloP7way_vertebrate=-0.056;phyloP20way_mammalian=0.145;phastCons7way_vertebrate=0.993;phastCons20way_mammalian=0.990;SiPhy_29way_logOdds=7.397;hgmdPRO=.;gnomAD_exome_ALL=0.1929;gnomAD_exome_AFR=0.2687;gnomAD_exome_AMR=0.2312;gnomAD_exome_ASJ=0.1560;gnomAD_exome_EAS=0.3210;gnomAD_exome_FIN=0.1811;gnomAD_exome_NFE=0.1432;gnomAD_exome_OTH=0.1946;gnomAD_exome_SAS=0.2424;gnomAD_genome_ALL=0.1926;gnomAD_genome_AFR=0.2625;gnomAD_genome_AMR=0.2243;gnomAD_genome_ASJ=0.1523;gnomAD_genome_EAS=0.3081;gnomAD_genome_FIN=0.1873;gnomAD_genome_NFE=0.1403;gnomAD_genome_OTH=0.1864;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1608:766:22796:811:23300:-1510.88,0,-1459.82 +chr18 3176040 . C G 15291.3 . AB=0.492092;ABP=3.90319;AC=1;AF=0.5;AN=2;AO=809;CIGAR=1X;DP=1644;DPB=1644;DPRA=0;EPP=3.0774;EPPR=13.1626;GTI=0;LEN=1;MEANALT=3;MQM=39.6452;MQMR=40.1325;NS=1;NUMALT=1;ODDS=3314.88;PAIRED=0.966625;PAIREDR=0.953247;PAO=0;PQA=0;PQR=0;PRO=0;QA=23772;QR=22609;RO=770;RPL=372;RPP=14.3508;RPPR=3.41639;RPR=437;RUN=1;SAF=565;SAP=279.587;SAR=244;SRF=524;SRP=220.958;SRR=246;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon6:c.G1022C:p.G341A,MYOM1:NM_019856:exon6:c.G1022C:p.G341A;cytoBand=18p11.31;esp6500siv2_all=0.7456;esp6500siv2_ea=0.7156;esp6500siv2_all=0.7456;esp6500siv2_ea=0.7156;1000g2015aug_all=0.757188;avsnp147=rs8099021;Kaviar_AF=0.72391;Kaviar_AC=111918;Kaviar_AN=154602;ExAC_ALL=0.7384;ExAC_AFR=0.7990;ExAC_AMR=0.7797;ExAC_EAS=0.7506;ExAC_FIN=0.7606;ExAC_NFE=0.7042;ExAC_OTH=0.7387;ExAC_SAS=0.7961;CLNALLELEID=230883;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.798;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.943;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=-0.02;MutationAssessor_pred=N;FATHMM_score=-0.78;FATHMM_pred=T;PROVEAN_score=0.68;PROVEAN_pred=N;VEST3_score=0.027;CADD_raw=-1.049;CADD_phred=0.013;DANN_score=0.223;fathmm-MKL_coding_score=0.139;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.916;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.601;integrated_confidence_value=0;GERP++_RS=1.97;phyloP7way_vertebrate=-1.384;phyloP20way_mammalian=-0.313;phastCons7way_vertebrate=0.691;phastCons20way_mammalian=0.306;SiPhy_29way_logOdds=14.746;hgmdPRO=.;gnomAD_exome_ALL=0.7431;gnomAD_exome_AFR=0.8056;gnomAD_exome_AMR=0.7748;gnomAD_exome_ASJ=0.6965;gnomAD_exome_EAS=0.7516;gnomAD_exome_FIN=0.7706;gnomAD_exome_NFE=0.7079;gnomAD_exome_OTH=0.7388;gnomAD_exome_SAS=0.7960;gnomAD_genome_ALL=0.7593;gnomAD_genome_AFR=0.8089;gnomAD_genome_AMR=0.7363;gnomAD_genome_ASJ=0.6954;gnomAD_genome_EAS=0.7395;gnomAD_genome_FIN=0.7791;gnomAD_genome_NFE=0.7326;gnomAD_genome_OTH=0.7291;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1644:770:22609:809:23772:-1567.23,0,-1471.48 +chr18 3188976 . A G 8196.01 . AB=0.454925;ABP=24.1522;AC=1;AF=0.5;AN=2;AO=545;CIGAR=1X;DP=1198;DPB=1198;DPRA=0;EPP=114.13;EPPR=184.628;GTI=0;LEN=1;MEANALT=3;MQM=34.9156;MQMR=36.9442;NS=1;NUMALT=1;ODDS=1887.2;PAIRED=0.908257;PAIREDR=0.902711;PAO=0;PQA=0;PQR=0;PRO=0;QA=16176;QR=20079;RO=627;RPL=86;RPP=557.349;RPPR=444.401;RPR=459;RUN=1;SAF=378;SAP=180.398;SAR=167;SRF=441;SRP=228.21;SRR=186;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYOM1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYOM1:NM_003803:exon4:c.T541C:p.S181P,MYOM1:NM_019856:exon4:c.T541C:p.S181P;cytoBand=18p11.31;esp6500siv2_all=0.3413;esp6500siv2_ea=0.4153;esp6500siv2_all=0.3413;esp6500siv2_ea=0.4153;1000g2015aug_all=0.443291;avsnp147=rs1962519;Kaviar_AF=0.429069;Kaviar_AC=66335;Kaviar_AN=154602;ExAC_ALL=0.4374;ExAC_AFR=0.1976;ExAC_AMR=0.4007;ExAC_EAS=0.8196;ExAC_FIN=0.4921;ExAC_NFE=0.4155;ExAC_OTH=0.4131;ExAC_SAS=0.4736;CLNALLELEID=230890;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.111;SIFT_pred=T;Polyphen2_HDIV_score=0.978;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.719;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.73;FATHMM_pred=T;PROVEAN_score=-1.25;PROVEAN_pred=N;VEST3_score=0.169;CADD_raw=2.095;CADD_phred=16.82;DANN_score=0.988;fathmm-MKL_coding_score=0.095;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.993;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=1.27;phyloP7way_vertebrate=-0.000;phyloP20way_mammalian=1.171;phastCons7way_vertebrate=0.021;phastCons20way_mammalian=0.092;SiPhy_29way_logOdds=7.638;hgmdPRO=.;gnomAD_exome_ALL=0.4438;gnomAD_exome_AFR=0.1960;gnomAD_exome_AMR=0.3987;gnomAD_exome_ASJ=0.3927;gnomAD_exome_EAS=0.8208;gnomAD_exome_FIN=0.5039;gnomAD_exome_NFE=0.4177;gnomAD_exome_OTH=0.4294;gnomAD_exome_SAS=0.4746;gnomAD_genome_ALL=0.4044;gnomAD_genome_AFR=0.2102;gnomAD_genome_AMR=0.3940;gnomAD_genome_ASJ=0.4262;gnomAD_genome_EAS=0.8229;gnomAD_genome_FIN=0.5152;gnomAD_genome_NFE=0.4448;gnomAD_genome_OTH=0.4371;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1198:627:20079:545:16176:-919.053,0,-1277.75 +chr18 9117867 . T C 14656.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=595;CIGAR=1X;DP=613;DPB=613;DPRA=0;EPP=19.3931;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=40.1513;MQMR=32.5;NS=1;NUMALT=1;ODDS=817.21;PAIRED=0.986555;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=17125;QR=28;RO=2;RPL=238;RPP=54.6913;RPPR=3.0103;RPR=357;RUN=1;SAF=220;SAP=90.6903;SAR=375;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=NDUFV2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NDUFV2:NM_021074:exon2:c.T86C:p.V29A;cytoBand=18p11.22;esp6500siv2_all=0.7995;esp6500siv2_ea=0.8194;esp6500siv2_all=0.7995;esp6500siv2_ea=0.8194;1000g2015aug_all=0.778954;avsnp147=rs906807;Kaviar_AF=0.792913;Kaviar_AC=122586;Kaviar_AN=154602;ExAC_ALL=0.8001;ExAC_AFR=0.7593;ExAC_AMR=0.7611;ExAC_EAS=0.7098;ExAC_FIN=0.7420;ExAC_NFE=0.8157;ExAC_OTH=0.7963;ExAC_SAS=0.8606;CLNALLELEID=24093;CLNDN=Parkinson_disease,_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified;CLNDISDB=MedGen:C1838867,OMIM:556500|MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=-1.465;MutationAssessor_pred=N;FATHMM_score=1.02;FATHMM_pred=T;PROVEAN_score=1.38;PROVEAN_pred=N;VEST3_score=0.042;CADD_raw=0.840;CADD_phred=9.708;DANN_score=0.821;fathmm-MKL_coding_score=0.037;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.966;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.731;integrated_confidence_value=0;GERP++_RS=4.67;phyloP7way_vertebrate=0.002;phyloP20way_mammalian=0.040;phastCons7way_vertebrate=0.984;phastCons20way_mammalian=0.747;SiPhy_29way_logOdds=11.855;hgmdPRO=id:CM983407#"Parkinson_disease_susceptibility_to_association";gnomAD_exome_ALL=0.7980;gnomAD_exome_AFR=0.7551;gnomAD_exome_AMR=0.7493;gnomAD_exome_ASJ=0.8953;gnomAD_exome_EAS=0.7120;gnomAD_exome_FIN=0.7492;gnomAD_exome_NFE=0.8155;gnomAD_exome_OTH=0.8101;gnomAD_exome_SAS=0.8591;gnomAD_genome_ALL=0.7844;gnomAD_genome_AFR=0.7579;gnomAD_genome_AMR=0.7709;gnomAD_genome_ASJ=0.8974;gnomAD_genome_EAS=0.7494;gnomAD_genome_FIN=0.7349;gnomAD_genome_NFE=0.8134;gnomAD_genome_OTH=0.7888;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:613:2:28:595:17125:-1484.6,-177.241,0 +chr18 28666526 . TT TTAAT 17806.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=983;CIGAR=1M3I1M;DP=1091;DPB=2618;DPRA=0;EPP=37.5263;EPPR=30.8051;GTI=0;LEN=3;MEANALT=14;MQM=38.5259;MQMR=38.25;NS=1;NUMALT=1;ODDS=1236.82;PAIRED=0.966429;PAIREDR=1;PAO=5;PQA=64.5;PQR=64.5;PRO=5;QA=21705;QR=450;RO=20;RPL=298;RPP=333.854;RPPR=6.91895;RPR=685;RUN=1;SAF=607;SAP=120.886;SAR=376;SRF=11;SRP=3.44459;SRR=9;TYPE=ins;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DSC2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=.;avsnp147=.;Kaviar_AF=.;Kaviar_AC=.;Kaviar_AN=.;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=.;gnomAD_genome_AFR=.;gnomAD_genome_AMR=.;gnomAD_genome_ASJ=.;gnomAD_genome_EAS=.;gnomAD_genome_FIN=.;gnomAD_genome_NFE=.;gnomAD_genome_OTH=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=4 GT:DP:RO:QR:AO:QA:GL 1/1:1091:20:450:983:21705:-1829.03,-269.101,0 +chr18 29104698 . C T 7713.33 . AB=0.506757;ABP=3.30374;AC=1;AF=0.5;AN=2;AO=375;CIGAR=1X;DP=740;DPB=740;DPRA=0;EPP=24.5571;EPPR=115.199;GTI=0;LEN=1;MEANALT=3;MQM=40.2853;MQMR=40.1508;NS=1;NUMALT=1;ODDS=1704.29;PAIRED=0.978667;PAIREDR=0.986034;PAO=0;PQA=0;PQR=0;PRO=0;QA=11644;QR=11405;RO=358;RPL=148;RPP=39.1494;RPPR=32.7316;RPR=227;RUN=1;SAF=182;SAP=3.71096;SAR=193;SRF=195;SRP=9.22144;SRR=163;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon8:c.C861T:p.N287N;cytoBand=18q12.1;esp6500siv2_all=0.5059;esp6500siv2_ea=0.3787;esp6500siv2_all=0.5059;esp6500siv2_ea=0.3787;1000g2015aug_all=0.526558;avsnp147=rs2230233;Kaviar_AF=0.408766;Kaviar_AC=63196;Kaviar_AN=154602;ExAC_ALL=0.4116;ExAC_AFR=0.8002;ExAC_AMR=0.4009;ExAC_EAS=0.4927;ExAC_FIN=0.4107;ExAC_NFE=0.3687;ExAC_OTH=0.3789;ExAC_SAS=0.3219;CLNALLELEID=53496;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4077;gnomAD_exome_AFR=0.8037;gnomAD_exome_AMR=0.4123;gnomAD_exome_ASJ=0.3189;gnomAD_exome_EAS=0.4905;gnomAD_exome_FIN=0.4102;gnomAD_exome_NFE=0.3718;gnomAD_exome_OTH=0.3754;gnomAD_exome_SAS=0.3217;gnomAD_genome_ALL=0.5053;gnomAD_genome_AFR=0.7865;gnomAD_genome_AMR=0.4665;gnomAD_genome_ASJ=0.3311;gnomAD_genome_EAS=0.4920;gnomAD_genome_FIN=0.4029;gnomAD_genome_NFE=0.3792;gnomAD_genome_OTH=0.4020;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:740:358:11405:375:11644:-784.965,0,-762.98 +chr18 29125854 . A G 5852.81 . AB=0.421286;ABP=51.5531;AC=1;AF=0.5;AN=2;AO=380;CIGAR=1X;DP=902;DPB=902;DPRA=0;EPP=176.02;EPPR=218.378;GTI=0;LEN=1;MEANALT=3;MQM=39.5132;MQMR=40.1865;NS=1;NUMALT=1;ODDS=1347.66;PAIRED=0.997368;PAIREDR=0.981557;PAO=0;PQA=0;PQR=0;PRO=0;QA=10296;QR=14955;RO=488;RPL=120;RPP=115.013;RPPR=67.0865;RPR=260;RUN=1;SAF=159;SAP=24.9765;SAR=221;SRF=212;SRP=21.2364;SRR=276;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.A2505G:p.T835T;cytoBand=18q12.1;esp6500siv2_all=0.1801;esp6500siv2_ea=0.1076;esp6500siv2_all=0.1801;esp6500siv2_ea=0.1076;1000g2015aug_all=0.197484;avsnp147=rs1042769;Kaviar_AF=0.12745;Kaviar_AC=19704;Kaviar_AN=154602;ExAC_ALL=0.1284;ExAC_AFR=0.3545;ExAC_AMR=0.1220;ExAC_EAS=0.1942;ExAC_FIN=0.0714;ExAC_NFE=0.1076;ExAC_OTH=0.0978;ExAC_SAS=0.0735;CLNALLELEID=53469;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1248;gnomAD_exome_AFR=0.3544;gnomAD_exome_AMR=0.1267;gnomAD_exome_ASJ=0.1347;gnomAD_exome_EAS=0.1961;gnomAD_exome_FIN=0.0724;gnomAD_exome_NFE=0.1063;gnomAD_exome_OTH=0.1108;gnomAD_exome_SAS=0.0727;gnomAD_genome_ALL=0.1768;gnomAD_genome_AFR=0.3479;gnomAD_genome_AMR=0.1199;gnomAD_genome_ASJ=0.1490;gnomAD_genome_EAS=0.2045;gnomAD_genome_FIN=0.0647;gnomAD_genome_NFE=0.1080;gnomAD_genome_OTH=0.1245;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:902:488:14955:380:10296:-627.485,0,-1026.86 +chr18 29126670 . T C 10826.2 . AB=0.450076;ABP=31.6304;AC=1;AF=0.5;AN=2;AO=595;CIGAR=1X;DP=1322;DPB=1322;DPRA=0;EPP=38.7794;EPPR=92.1517;GTI=0;LEN=1;MEANALT=3;MQM=38.5227;MQMR=38.1847;NS=1;NUMALT=1;ODDS=2492.82;PAIRED=0.966387;PAIREDR=0.950284;PAO=0;PQA=0;PQR=0;PRO=0;QA=18277;QR=22781;RO=704;RPL=395;RPP=141.784;RPPR=180.676;RPR=200;RUN=1;SAF=168;SAP=247.825;SAR=427;SRF=201;SRP=284.327;SRR=503;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSG2:NM_001943:exon15:c.T3321C:p.V1107V;cytoBand=18q12.1;esp6500siv2_all=0.4731;esp6500siv2_ea=0.3777;esp6500siv2_all=0.4731;esp6500siv2_ea=0.3777;1000g2015aug_all=0.542931;avsnp147=rs1791235;Kaviar_AF=0.419658;Kaviar_AC=64880;Kaviar_AN=154602;ExAC_ALL=0.4233;ExAC_AFR=0.6952;ExAC_AMR=0.4352;ExAC_EAS=0.7075;ExAC_FIN=0.4153;ExAC_NFE=0.3705;ExAC_OTH=0.3867;ExAC_SAS=0.3241;CLNALLELEID=53482;CLNDN=not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4220;gnomAD_exome_AFR=0.6961;gnomAD_exome_AMR=0.4447;gnomAD_exome_ASJ=0.3193;gnomAD_exome_EAS=0.7052;gnomAD_exome_FIN=0.4139;gnomAD_exome_NFE=0.3733;gnomAD_exome_OTH=0.3827;gnomAD_exome_SAS=0.3246;gnomAD_genome_ALL=0.4896;gnomAD_genome_AFR=0.6868;gnomAD_genome_AMR=0.4928;gnomAD_genome_ASJ=0.3311;gnomAD_genome_EAS=0.6954;gnomAD_genome_FIN=0.4066;gnomAD_genome_NFE=0.3807;gnomAD_genome_OTH=0.4051;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1322:704:22781:595:18277:-1135.69,0,-1489.66 +chr18 32418186 . T A 11026.7 . AB=0.486284;ABP=4.976;AC=1;AF=0.5;AN=2;AO=585;CIGAR=1X;DP=1203;DPB=1203;DPRA=0;EPP=119.301;EPPR=82.171;GTI=0;LEN=1;MEANALT=3;MQM=39.5983;MQMR=40.1527;NS=1;NUMALT=1;ODDS=2539;PAIRED=0.979487;PAIREDR=0.99179;PAO=0;PQA=0;PQR=0;PRO=0;QA=17285;QR=18957;RO=609;RPL=261;RPP=17.7429;RPPR=10.8868;RPR=324;RUN=1;SAF=305;SAP=5.33025;SAR=280;SRF=307;SRP=3.09944;SRR=302;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;esp6500siv2_all=0.2633;esp6500siv2_ea=0.2615;esp6500siv2_all=0.2633;esp6500siv2_ea=0.2615;1000g2015aug_all=0.204073;avsnp147=rs17557695;Kaviar_AF=0.224053;Kaviar_AC=34639;Kaviar_AN=154602;ExAC_ALL=0.2325;ExAC_AFR=0.2730;ExAC_AMR=0.1081;ExAC_EAS=0.0436;ExAC_FIN=0.2624;ExAC_NFE=0.2563;ExAC_OTH=0.2560;ExAC_SAS=0.2786;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2255;gnomAD_exome_AFR=0.2736;gnomAD_exome_AMR=0.1190;gnomAD_exome_ASJ=0.2216;gnomAD_exome_EAS=0.0450;gnomAD_exome_FIN=0.2596;gnomAD_exome_NFE=0.2592;gnomAD_exome_OTH=0.2168;gnomAD_exome_SAS=0.2793;gnomAD_genome_ALL=0.2489;gnomAD_genome_AFR=0.2733;gnomAD_genome_AMR=0.1411;gnomAD_genome_ASJ=0.2483;gnomAD_genome_EAS=0.0414;gnomAD_genome_FIN=0.2471;gnomAD_genome_NFE=0.2637;gnomAD_genome_OTH=0.2469;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1203:609:18957:585:17285:-1124.36,0,-1271.27 +chr18 32444040 . G A 37942.5 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1679;CIGAR=1X;DP=1743;DPB=1743;DPRA=0;EPP=524.506;EPPR=12.2676;GTI=0;LEN=1;MEANALT=3;MQM=39.137;MQMR=34.3158;NS=1;NUMALT=1;ODDS=2166.74;PAIRED=0.916021;PAIREDR=0.789474;PAO=0;PQA=0;PQR=0;PRO=0;QA=46146;QR=534;RO=19;RPL=556;RPP=418.796;RPPR=4.03889;RPR=1123;RUN=1;SAF=876;SAP=9.90236;SAR=803;SRF=14;SRP=12.2676;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=18q12.1;esp6500siv2_all=0.3869;esp6500siv2_ea=0.3304;esp6500siv2_all=0.3869;esp6500siv2_ea=0.3304;1000g2015aug_all=0.29373;avsnp147=rs1617318;Kaviar_AF=0.28933;Kaviar_AC=44731;Kaviar_AN=154602;ExAC_ALL=0.3586;ExAC_AFR=0.5402;ExAC_AMR=0.2023;ExAC_EAS=0.0652;ExAC_FIN=0.4342;ExAC_NFE=0.3944;ExAC_OTH=0.3937;ExAC_SAS=0.3032;CLNALLELEID=55581;CLNDN=Left_ventricular_noncompaction_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.2931;gnomAD_exome_AFR=0.5146;gnomAD_exome_AMR=0.1664;gnomAD_exome_ASJ=0.3214;gnomAD_exome_EAS=0.0471;gnomAD_exome_FIN=0.3654;gnomAD_exome_NFE=0.3339;gnomAD_exome_OTH=0.3063;gnomAD_exome_SAS=0.2752;gnomAD_genome_ALL=0.3756;gnomAD_genome_AFR=0.5089;gnomAD_genome_AMR=0.1933;gnomAD_genome_ASJ=0.3344;gnomAD_genome_EAS=0.0427;gnomAD_genome_FIN=0.3459;gnomAD_genome_NFE=0.3532;gnomAD_genome_OTH=0.3605;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1743:19:534:1679:46146:-3891.74,-467.947,0 +chr18 34232610 . C T 2564.61 . AB=0.427632;ABP=23.7536;AC=1;AF=0.5;AN=2;AO=195;CIGAR=1X;DP=456;DPB=456;DPRA=0;EPP=95.2255;EPPR=71.3675;GTI=0;LEN=1;MEANALT=3;MQM=32.5795;MQMR=33.939;NS=1;NUMALT=1;ODDS=590.524;PAIRED=0.938462;PAIREDR=0.930894;PAO=0;PQA=0;PQR=0;PRO=0;QA=5452;QR=7710;RO=246;RPL=56;RPP=79.7245;RPPR=117.728;RPR=139;RUN=1;SAF=133;SAP=59.1456;SAR=62;SRF=171;SRP=84.3611;SRR=75;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281740:exon12:c.C1364T:p.S455L;cytoBand=18q12.2;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.319489;avsnp147=rs2848901;Kaviar_AF=0.0853482;Kaviar_AC=13195;Kaviar_AN=154602;ExAC_ALL=0.3820;ExAC_AFR=0.3155;ExAC_AMR=0.5;ExAC_EAS=0.1888;ExAC_FIN=0.25;ExAC_NFE=0.3083;ExAC_OTH=0.2846;ExAC_SAS=0.4253;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.34;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=1.357;CADD_phred=12.57;DANN_score=0.804;fathmm-MKL_coding_score=0.403;fathmm-MKL_coding_pred=N;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=0.615;integrated_confidence_value=0;GERP++_RS=5.37;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.826;phastCons7way_vertebrate=0.031;phastCons20way_mammalian=0.013;SiPhy_29way_logOdds=15.833;hgmdPRO=.;gnomAD_exome_ALL=0.3350;gnomAD_exome_AFR=0.2950;gnomAD_exome_AMR=0.4875;gnomAD_exome_ASJ=0.2973;gnomAD_exome_EAS=0.1699;gnomAD_exome_FIN=0.1841;gnomAD_exome_NFE=0.2812;gnomAD_exome_OTH=0.3288;gnomAD_exome_SAS=0.4271;gnomAD_genome_ALL=0.2691;gnomAD_genome_AFR=0.2800;gnomAD_genome_AMR=0.4761;gnomAD_genome_ASJ=0.2616;gnomAD_genome_EAS=0.1691;gnomAD_genome_FIN=0.1806;gnomAD_genome_NFE=0.2817;gnomAD_genome_OTH=0.2848;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.32197::-0.216564;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:456:246:7710:195:5452:-288.022,0,-455.282 +chr18 34310668 . C T 10015.1 . AB=0.497721;ABP=3.05979;AC=1;AF=0.5;AN=2;AO=546;CIGAR=1X;DP=1097;DPB=1097;DPRA=0;EPP=52.8985;EPPR=73.5832;GTI=0;LEN=1;MEANALT=3;MQM=39.2601;MQMR=38.9596;NS=1;NUMALT=1;ODDS=2208;PAIRED=0.987179;PAIREDR=0.975;PAO=0;PQA=0;PQR=0;PRO=0;QA=15640;QR=15329;RO=520;RPL=273;RPP=3.0103;RPPR=6.28421;RPR=273;RUN=1;SAF=206;SAP=74.4223;SAR=340;SRF=189;SRP=87.2133;SRR=331;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon16:c.C2901T:p.N967N,FHOD3:NM_025135:exon17:c.C2952T:p.N984N,FHOD3:NM_001281740:exon20:c.C3477T:p.N1159N;cytoBand=18q12.2;esp6500siv2_all=0.2905;esp6500siv2_ea=0.3427;esp6500siv2_all=0.2905;esp6500siv2_ea=0.3427;1000g2015aug_all=0.319489;avsnp147=rs3744903;Kaviar_AF=0.33768;Kaviar_AC=52206;Kaviar_AN=154602;ExAC_ALL=0.3420;ExAC_AFR=0.1838;ExAC_AMR=0.5016;ExAC_EAS=0.3005;ExAC_FIN=0.2770;ExAC_NFE=0.3239;ExAC_OTH=0.3756;ExAC_SAS=0.4489;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3510;gnomAD_exome_AFR=0.1815;gnomAD_exome_AMR=0.4927;gnomAD_exome_ASJ=0.3068;gnomAD_exome_EAS=0.2959;gnomAD_exome_FIN=0.2802;gnomAD_exome_NFE=0.3299;gnomAD_exome_OTH=0.3583;gnomAD_exome_SAS=0.4522;gnomAD_genome_ALL=0.2858;gnomAD_genome_AFR=0.1773;gnomAD_genome_AMR=0.4785;gnomAD_genome_ASJ=0.2781;gnomAD_genome_EAS=0.3035;gnomAD_genome_FIN=0.2723;gnomAD_genome_NFE=0.3368;gnomAD_genome_OTH=0.3289;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.356618::-0.21943;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1097:520:15329:546:15640:-1021.87,0,-982.998 +chr18 34324091 . G A 12747.8 . AB=0.503044;ABP=3.11606;AC=1;AF=0.5;AN=2;AO=661;CIGAR=1X;DP=1314;DPB=1314;DPRA=0;EPP=12.2382;EPPR=30.0122;GTI=0;LEN=1;MEANALT=3;MQM=37.7595;MQMR=37.5338;NS=1;NUMALT=1;ODDS=2868.61;PAIRED=0.953101;PAIREDR=0.899529;PAO=0;PQA=0;PQR=0;PRO=0;QA=20166;QR=20186;RO=637;RPL=299;RPP=16.049;RPPR=7.18621;RPR=362;RUN=1;SAF=340;SAP=4.19623;SAR=321;SRF=290;SRP=14.0858;SRR=347;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=FHOD3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FHOD3:NM_001281739:exon19:c.G3400A:p.V1134I,FHOD3:NM_025135:exon20:c.G3451A:p.V1151I,FHOD3:NM_001281740:exon23:c.G3976A:p.V1326I;cytoBand=18q12.2;esp6500siv2_all=0.3555;esp6500siv2_ea=0.3263;esp6500siv2_all=0.3555;esp6500siv2_ea=0.3263;1000g2015aug_all=0.376198;avsnp147=rs2303510;Kaviar_AF=0.336212;Kaviar_AC=51979;Kaviar_AN=154602;ExAC_ALL=0.3415;ExAC_AFR=0.4148;ExAC_AMR=0.4085;ExAC_EAS=0.3013;ExAC_FIN=0.2648;ExAC_NFE=0.3054;ExAC_OTH=0.3620;ExAC_SAS=0.4450;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.147;SIFT_pred=T;Polyphen2_HDIV_score=0.976;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.622;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.000;MutationTaster_pred=P;MutationAssessor_score=0.73;MutationAssessor_pred=N;FATHMM_score=2.36;FATHMM_pred=T;PROVEAN_score=-0.44;PROVEAN_pred=N;VEST3_score=0.107;CADD_raw=3.145;CADD_phred=22.6;DANN_score=0.998;fathmm-MKL_coding_score=0.983;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.803;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=5.29;phyloP7way_vertebrate=0.917;phyloP20way_mammalian=1.048;phastCons7way_vertebrate=1.000;phastCons20way_mammalian=1.000;SiPhy_29way_logOdds=17.505;hgmdPRO=id:CM131211#"Cardiomyopathy_hypertrophic_association_with";gnomAD_exome_ALL=0.3421;gnomAD_exome_AFR=0.4189;gnomAD_exome_AMR=0.4014;gnomAD_exome_ASJ=0.2872;gnomAD_exome_EAS=0.2966;gnomAD_exome_FIN=0.2708;gnomAD_exome_NFE=0.3112;gnomAD_exome_OTH=0.3386;gnomAD_exome_SAS=0.4468;gnomAD_genome_ALL=0.3346;gnomAD_genome_AFR=0.4000;gnomAD_genome_AMR=0.3807;gnomAD_genome_ASJ=0.2517;gnomAD_genome_EAS=0.3079;gnomAD_genome_FIN=0.2638;gnomAD_genome_NFE=0.3166;gnomAD_genome_OTH=0.3112;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.369485::-0.222653;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:1314:637:20186:661:20166:-1285.4,0,-1258.3 +chr19 16591464 . G A 24119.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1099;CIGAR=1X;DP=1132;DPB=1132;DPRA=0;EPP=12.4174;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=35.5723;MQMR=20.125;NS=1;NUMALT=1;ODDS=1475.25;PAIRED=0.936306;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=30001;QR=174;RO=8;RPL=600;RPP=23.1661;RPPR=7.35324;RPR=499;RUN=1;SAF=707;SAP=199.065;SAR=392;SRF=6;SRP=7.35324;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon8:c.C972T:p.Y324Y;cytoBand=19p13.11;esp6500siv2_all=0.6539;esp6500siv2_ea=0.7043;esp6500siv2_all=0.6539;esp6500siv2_ea=0.7043;1000g2015aug_all=0.650559;avsnp147=rs9305079;Kaviar_AF=0.69243;Kaviar_AC=107051;Kaviar_AN=154602;ExAC_ALL=0.6984;ExAC_AFR=0.5479;ExAC_AMR=0.7731;ExAC_EAS=0.6365;ExAC_FIN=0.6176;ExAC_NFE=0.7109;ExAC_OTH=0.7148;ExAC_SAS=0.7541;CLNALLELEID=487993;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7015;gnomAD_exome_AFR=0.5448;gnomAD_exome_AMR=0.7633;gnomAD_exome_ASJ=0.8167;gnomAD_exome_EAS=0.6337;gnomAD_exome_FIN=0.6147;gnomAD_exome_NFE=0.7065;gnomAD_exome_OTH=0.7240;gnomAD_exome_SAS=0.7535;gnomAD_genome_ALL=0.6492;gnomAD_genome_AFR=0.5520;gnomAD_genome_AMR=0.7315;gnomAD_genome_ASJ=0.8344;gnomAD_genome_EAS=0.6286;gnomAD_genome_FIN=0.6125;gnomAD_genome_NFE=0.7044;gnomAD_genome_OTH=0.7070;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.3125::0.259006;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 1/1:1132:8:174:1099:30001:-2436.73,-322.308,0 +chr19 16593415 . G A 30852.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1409;CIGAR=1X;DP=1453;DPB=1453;DPRA=0;EPP=19.3603;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=34.6352;MQMR=32.25;NS=1;NUMALT=1;ODDS=1924.31;PAIRED=0.924769;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=40093;QR=92;RO=4;RPL=1043;RPP=709.361;RPPR=5.18177;RPR=366;RUN=1;SAF=505;SAP=248.362;SAR=904;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19p13.11;esp6500siv2_all=0.6683;esp6500siv2_ea=0.7048;esp6500siv2_all=0.6683;esp6500siv2_ea=0.7048;1000g2015aug_all=0.660144;avsnp147=rs8100755;Kaviar_AF=0.693367;Kaviar_AC=107196;Kaviar_AN=154602;ExAC_ALL=0.7023;ExAC_AFR=0.5908;ExAC_AMR=0.7739;ExAC_EAS=0.6365;ExAC_FIN=0.6175;ExAC_NFE=0.7113;ExAC_OTH=0.7159;ExAC_SAS=0.7535;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7045;gnomAD_exome_AFR=0.5861;gnomAD_exome_AMR=0.7645;gnomAD_exome_ASJ=0.8216;gnomAD_exome_EAS=0.6339;gnomAD_exome_FIN=0.6150;gnomAD_exome_NFE=0.7067;gnomAD_exome_OTH=0.7253;gnomAD_exome_SAS=0.7532;gnomAD_genome_ALL=0.6603;gnomAD_genome_AFR=0.5911;gnomAD_genome_AMR=0.7356;gnomAD_genome_ASJ=0.8377;gnomAD_genome_EAS=0.6281;gnomAD_genome_FIN=0.6131;gnomAD_genome_NFE=0.7043;gnomAD_genome_OTH=0.7041;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.305147::0.255204;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 1/1:1453:4:92:1409:40093:-3188.75,-417.948,0 +chr19 16601194 . C T 37177.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1439;CIGAR=1X;DP=1466;DPB=1466;DPRA=0;EPP=3.95343;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=38.7915;MQMR=29;NS=1;NUMALT=1;ODDS=1976.9;PAIRED=0.966644;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=44596;QR=64;RO=3;RPL=585;RPP=112.204;RPPR=9.52472;RPR=854;RUN=1;SAF=897;SAP=193.184;SAR=542;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CALR3:NM_145046:exon3:c.G381A:p.Q127Q;cytoBand=19p13.11;esp6500siv2_all=0.6680;esp6500siv2_ea=0.7038;esp6500siv2_all=0.6680;esp6500siv2_ea=0.7038;1000g2015aug_all=0.658946;avsnp147=rs3810198;Kaviar_AF=0.695373;Kaviar_AC=107506;Kaviar_AN=154602;ExAC_ALL=0.7014;ExAC_AFR=0.5905;ExAC_AMR=0.7727;ExAC_EAS=0.6366;ExAC_FIN=0.6179;ExAC_NFE=0.7102;ExAC_OTH=0.7137;ExAC_SAS=0.7530;CLNALLELEID=487995;CLNDN=Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.7035;gnomAD_exome_AFR=0.5871;gnomAD_exome_AMR=0.7628;gnomAD_exome_ASJ=0.8214;gnomAD_exome_EAS=0.6336;gnomAD_exome_FIN=0.6149;gnomAD_exome_NFE=0.7052;gnomAD_exome_OTH=0.7236;gnomAD_exome_SAS=0.7527;gnomAD_genome_ALL=0.6600;gnomAD_genome_AFR=0.5927;gnomAD_genome_AMR=0.7315;gnomAD_genome_ASJ=0.8377;gnomAD_genome_EAS=0.6276;gnomAD_genome_FIN=0.6123;gnomAD_genome_NFE=0.7030;gnomAD_genome_OTH=0.7055;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1466:3:64:1439:44596:-3751.26,-429.415,0 +chr19 35524824 . T C 10426.3 . AB=0.483696;ABP=6.40913;AC=1;AF=0.5;AN=2;AO=712;CIGAR=1X;DP=1472;DPB=1472;DPRA=0;EPP=3.0591;EPPR=14.4067;GTI=0;LEN=1;MEANALT=3;MQM=31.8778;MQMR=33.5797;NS=1;NUMALT=1;ODDS=2400.75;PAIRED=0.921348;PAIREDR=0.836389;PAO=0;PQA=0;PQR=0;PRO=0;QA=19373;QR=20821;RO=709;RPL=319;RPP=19.7111;RPPR=3.89543;RPR=393;RUN=1;SAF=367;SAP=4.48641;SAR=345;SRF=350;SRP=3.25838;SRR=359;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.T629C:p.L210P;cytoBand=19q13.12;esp6500siv2_all=0.4214;esp6500siv2_ea=0.3721;esp6500siv2_all=0.4214;esp6500siv2_ea=0.3721;1000g2015aug_all=0.377596;avsnp147=rs55742440;Kaviar_AF=0.295397;Kaviar_AC=45669;Kaviar_AN=154602;ExAC_ALL=0.4262;ExAC_AFR=0.5748;ExAC_AMR=0.4259;ExAC_EAS=0.3529;ExAC_FIN=0.5115;ExAC_NFE=0.4522;ExAC_OTH=0.4477;ExAC_SAS=0.3121;CLNALLELEID=142701;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-2.75;FATHMM_pred=D;PROVEAN_score=1.83;PROVEAN_pred=N;VEST3_score=0.02;CADD_raw=-0.608;CADD_phred=0.120;DANN_score=0.596;fathmm-MKL_coding_score=0.000;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.983;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.581;integrated_confidence_value=0;GERP++_RS=-1.91;phyloP7way_vertebrate=-0.912;phyloP20way_mammalian=-0.503;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.002;SiPhy_29way_logOdds=8.821;hgmdPRO=.;gnomAD_exome_ALL=0.3685;gnomAD_exome_AFR=0.5300;gnomAD_exome_AMR=0.3167;gnomAD_exome_ASJ=0.4939;gnomAD_exome_EAS=0.2681;gnomAD_exome_FIN=0.4047;gnomAD_exome_NFE=0.3838;gnomAD_exome_OTH=0.4066;gnomAD_exome_SAS=0.2891;gnomAD_genome_ALL=0.4246;gnomAD_genome_AFR=0.5236;gnomAD_genome_AMR=0.3612;gnomAD_genome_ASJ=0.4801;gnomAD_genome_EAS=0.2727;gnomAD_genome_FIN=0.4043;gnomAD_genome_NFE=0.3918;gnomAD_genome_OTH=0.4064;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1472:709:20821:712:19373:-1052.71,0,-1164.57 +chr19 35524964 . G A 13650.2 . AB=0.483632;ABP=6.77785;AC=1;AF=0.5;AN=2;AO=783;CIGAR=1X;DP=1619;DPB=1619;DPRA=0;EPP=24.9774;EPPR=6.35628;GTI=0;LEN=1;MEANALT=3;MQM=35.7765;MQMR=35.2717;NS=1;NUMALT=1;ODDS=2924.54;PAIRED=0.911877;PAIREDR=0.91195;PAO=0;PQA=0;PQR=0;PRO=0;QA=23108;QR=22025;RO=795;RPL=331;RPP=43.6138;RPPR=8.06068;RPR=452;RUN=1;SAF=437;SAP=25.9758;SAR=346;SRF=428;SRP=13.1739;SRR=367;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN1B:NM_199037:exon3:c.G769A:p.G257R;cytoBand=19q13.12;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0032;esp6500siv2_all=0.0024;esp6500siv2_ea=0.0032;1000g2015aug_all=0.000199681;avsnp147=rs72558028;Kaviar_AF=0.0005498;Kaviar_AC=85;Kaviar_AN=154602;ExAC_ALL=0.0017;ExAC_AFR=0.0005;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0.0312;ExAC_NFE=0.0035;ExAC_OTH=0;ExAC_SAS=0.0003;CLNALLELEID=188696;CLNDN=Brugada_syndrome_5|not_specified;CLNDISDB=MedGen:C2748541,OMIM:612838|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.0;SIFT_pred=D;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=-2.82;FATHMM_pred=D;PROVEAN_score=0.04;PROVEAN_pred=N;VEST3_score=0.074;CADD_raw=-1.373;CADD_phred=0.004;DANN_score=0.220;fathmm-MKL_coding_score=0.005;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.672;MetaSVM_pred=T;MetaLR_score=0.458;MetaLR_pred=T;integrated_fitCons_score=0.517;integrated_confidence_value=0;GERP++_RS=-2.01;phyloP7way_vertebrate=-1.403;phyloP20way_mammalian=-1.895;phastCons7way_vertebrate=0.000;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=7.291;hgmdPRO=id:CM1111828#"Epilepsy_idiopathic";gnomAD_exome_ALL=0.0014;gnomAD_exome_AFR=0.0007;gnomAD_exome_AMR=0.0006;gnomAD_exome_ASJ=0.0033;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0009;gnomAD_exome_NFE=0.0024;gnomAD_exome_OTH=0.0008;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0025;gnomAD_genome_AFR=0.0010;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0009;gnomAD_genome_NFE=0.0039;gnomAD_genome_OTH=0.0051;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:1619:795:22025:783:23108:-1381.94,0,-1280.33 +chr19 46281745 . A G 3587.77 . AB=0.47619;ABP=5.38858;AC=1;AF=0.5;AN=2;AO=230;CIGAR=1X;DP=483;DPB=483;DPRA=0;EPP=24.7628;EPPR=32.4664;GTI=0;LEN=1;MEANALT=3;MQM=32.2043;MQMR=33.3722;NS=1;NUMALT=1;ODDS=678.758;PAIRED=0.952174;PAIREDR=0.901345;PAO=0;PQA=0;PQR=0;PRO=0;QA=6663;QR=5820;RO=223;RPL=99;RPP=12.6781;RPPR=54.9017;RPR=131;RUN=1;SAF=136;SAP=19.6645;SAR=94;SRF=124;SRP=9.09627;SRR=99;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMPK;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;esp6500siv2_all=0.5233;esp6500siv2_ea=0.4571;esp6500siv2_all=0.5233;esp6500siv2_ea=0.4571;1000g2015aug_all=.;avsnp147=rs1799894;Kaviar_AF=0.493493;Kaviar_AC=76295;Kaviar_AN=154602;ExAC_ALL=0.5351;ExAC_AFR=0.6564;ExAC_AMR=0.7046;ExAC_EAS=0.6529;ExAC_FIN=0.4714;ExAC_NFE=0.4625;ExAC_OTH=0.4922;ExAC_SAS=0.5975;CLNALLELEID=134349;CLNDN=Steinert_myotonic_dystrophy_syndrome|not_specified;CLNDISDB=MedGen:C0027126,OMIM:160900,Orphanet:ORPHA206647,SNOMED_CT:77956009|MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5344;gnomAD_exome_AFR=0.6531;gnomAD_exome_AMR=0.6973;gnomAD_exome_ASJ=0.3818;gnomAD_exome_EAS=0.6434;gnomAD_exome_FIN=0.4653;gnomAD_exome_NFE=0.4623;gnomAD_exome_OTH=0.5168;gnomAD_exome_SAS=0.5973;gnomAD_genome_ALL=0.5327;gnomAD_genome_AFR=0.6450;gnomAD_genome_AMR=0.6384;gnomAD_genome_ASJ=0.37;gnomAD_genome_EAS=0.6446;gnomAD_genome_FIN=0.4615;gnomAD_genome_NFE=0.4705;gnomAD_genome_OTH=0.5102;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:483:223:5820:230:6663:-370.879,0,-310.88 +chr19 47104678 . C A 1078.7 . AB=0.460064;ABP=7.34631;AC=1;AF=0.5;AN=2;AO=144;CIGAR=1X;DP=313;DPB=313;DPRA=0;EPP=40.7095;EPPR=68.5576;GTI=0;LEN=1;MEANALT=3;MQM=27.2083;MQMR=30.8204;NS=1;NUMALT=1;ODDS=248.38;PAIRED=0.729167;PAIREDR=0.712575;PAO=0;PQA=0;PQR=0;PRO=0;QA=3197;QR=5177;RO=167;RPL=91;RPP=24.7853;RPPR=29.341;RPR=53;RUN=1;SAF=84;SAP=11.6962;SAR=60;SRF=102;SRP=20.8112;SRR=65;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=UTR5;Gene.refGene=CALM3;GeneDetail.refGene=NM_005184:c.-14C>A;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.32;esp6500siv2_all=0.0075;esp6500siv2_ea=0.0106;esp6500siv2_all=0.0075;esp6500siv2_ea=0.0106;1000g2015aug_all=0.00379393;avsnp147=rs201296349;Kaviar_AF=0.0047218;Kaviar_AC=730;Kaviar_AN=154602;ExAC_ALL=0.0136;ExAC_AFR=0.0045;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0.0292;ExAC_OTH=0.0093;ExAC_SAS=0.0077;CLNALLELEID=379605;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0121;gnomAD_exome_AFR=0.0026;gnomAD_exome_AMR=0.0080;gnomAD_exome_ASJ=0.0341;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0040;gnomAD_exome_NFE=0.0177;gnomAD_exome_OTH=0.0152;gnomAD_exome_SAS=0.0064;gnomAD_genome_ALL=0.0108;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0024;gnomAD_genome_ASJ=0.0405;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0058;gnomAD_genome_NFE=0.0171;gnomAD_genome_OTH=0.0123;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:313:167:5177:144:3197:-121.993,0,-269.008 +chr19 49661582 . T C 1327.04 . AB=0.56;ABP=9.26414;AC=1;AF=0.5;AN=2;AO=112;CIGAR=1X;DP=200;DPB=200;DPRA=0;EPP=3.08785;EPPR=3.13803;GTI=0;LEN=1;MEANALT=3;MQM=27.0357;MQMR=27.9559;NS=1;NUMALT=1;ODDS=74.5168;PAIRED=0.928571;PAIREDR=0.955882;PAO=0;PQA=0;PQR=0;PRO=0;QA=3260;QR=1491;RO=68;RPL=72;RPP=22.8638;RPPR=13.3567;RPR=40;RUN=1;SAF=15;SAP=133.376;SAR=97;SRF=8;SRP=89.3583;SRR=60;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.33;esp6500siv2_all=0.7795;esp6500siv2_ea=0.8564;esp6500siv2_all=0.7795;esp6500siv2_ea=0.8564;1000g2015aug_all=0.599441;avsnp147=rs3760664;Kaviar_AF=0.0001153;Kaviar_AC=3;Kaviar_AN=26028;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.7542;gnomAD_genome_AFR=0.6027;gnomAD_genome_AMR=0.7343;gnomAD_genome_ASJ=0.8113;gnomAD_genome_EAS=0.3371;gnomAD_genome_FIN=0.8593;gnomAD_genome_NFE=0.8580;gnomAD_genome_OTH=0.8207;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:200:68:1491:112:3260:-158.045,0,-51.6117 +chr19 55665410 . C T 4117.09 . AB=0.415172;ABP=48.3237;AC=1;AF=0.5;AN=2;AO=301;CIGAR=1X;DP=725;DPB=725;DPRA=0;EPP=3.19065;EPPR=6.39476;GTI=0;LEN=1;MEANALT=3;MQM=33.7575;MQMR=34.9102;NS=1;NUMALT=1;ODDS=947.995;PAIRED=0.810631;PAIREDR=0.872818;PAO=0;PQA=0;PQR=0;PRO=0;QA=8228;QR=12195;RO=401;RPL=139;RPP=6.82661;RPPR=25.8893;RPR=162;RUN=1;SAF=165;SAP=9.07744;SAR=136;SRF=222;SRP=13.0229;SRR=179;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;cytoBand=19q13.42;esp6500siv2_all=0.0485;esp6500siv2_ea=0.0658;esp6500siv2_all=0.0485;esp6500siv2_ea=0.0658;1000g2015aug_all=0.0477236;avsnp147=rs3729841;Kaviar_AF=0.0637314;Kaviar_AC=9853;Kaviar_AN=154602;ExAC_ALL=0.0660;ExAC_AFR=0.0124;ExAC_AMR=0.0333;ExAC_EAS=0.0448;ExAC_FIN=0.0631;ExAC_NFE=0.0718;ExAC_OTH=0.0944;ExAC_SAS=0.1065;CLNALLELEID=52561;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0653;gnomAD_exome_AFR=0.0113;gnomAD_exome_AMR=0.0359;gnomAD_exome_ASJ=0.0966;gnomAD_exome_EAS=0.0454;gnomAD_exome_FIN=0.0583;gnomAD_exome_NFE=0.0710;gnomAD_exome_OTH=0.0845;gnomAD_exome_SAS=0.1061;gnomAD_genome_ALL=0.0484;gnomAD_genome_AFR=0.0125;gnomAD_genome_AMR=0.0418;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.0469;gnomAD_genome_FIN=0.0600;gnomAD_genome_NFE=0.0649;gnomAD_genome_OTH=0.0738;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:725:401:12195:301:8228:-423.347,0,-732.807 +chr19 55665584 . A C 2578.22 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=141;CIGAR=1X;DP=148;DPB=148;DPRA=0;EPP=31.4858;EPPR=7.35324;GTI=0;LEN=1;MEANALT=2;MQM=30.4539;MQMR=32;NS=1;NUMALT=1;ODDS=192.052;PAIRED=0.971631;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4078;QR=28;RO=2;RPL=95;RPP=39.9869;RPPR=7.35324;RPR=46;RUN=1;SAF=3;SAP=283.685;SAR=138;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=1;avsnp147=rs7252610;Kaviar_AF=0.938261;Kaviar_AC=145057;Kaviar_AN=154602;ExAC_ALL=1.0000;ExAC_AFR=1;ExAC_AMR=1;ExAC_EAS=1;ExAC_FIN=1;ExAC_NFE=1;ExAC_OTH=1;ExAC_SAS=0.9998;CLNALLELEID=45542;CLNDN=Ciliary_dyskinesia|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Nemaline_Myopathy,_Recessive;CLNDISDB=Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN239479;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=1.0000;gnomAD_exome_AFR=1;gnomAD_exome_AMR=1;gnomAD_exome_ASJ=1;gnomAD_exome_EAS=1;gnomAD_exome_FIN=1;gnomAD_exome_NFE=1;gnomAD_exome_OTH=1;gnomAD_exome_SAS=0.9999;gnomAD_genome_ALL=1;gnomAD_genome_AFR=1;gnomAD_genome_AMR=1;gnomAD_genome_ASJ=1;gnomAD_genome_EAS=1;gnomAD_genome_FIN=1;gnomAD_genome_NFE=1;gnomAD_genome_OTH=1;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:148:2:28:141:4078:-301.768,-40.5603,0 +chr19 55668397 . C T 5138.94 . AB=0.425358;ABP=50.3386;AC=1;AF=0.5;AN=2;AO=416;CIGAR=1X;DP=978;DPB=978;DPRA=0;EPP=39.8418;EPPR=14.9939;GTI=0;LEN=1;MEANALT=3;MQM=29.0192;MQMR=29.3536;NS=1;NUMALT=1;ODDS=1183.28;PAIRED=0.829327;PAIREDR=0.738703;PAO=0;PQA=0;PQR=0;PRO=0;QA=11732;QR=15910;RO=509;RPL=93;RPP=279.142;RPPR=571.369;RPR=323;RUN=1;SAF=233;SAP=16.06;SAR=183;SRF=271;SRP=7.65614;SRR=238;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;esp6500siv2_all=0.0465;esp6500siv2_ea=0.0622;esp6500siv2_all=0.0465;esp6500siv2_ea=0.0622;1000g2015aug_all=0.0477236;avsnp147=rs3729837;Kaviar_AF=0.0492814;Kaviar_AC=7619;Kaviar_AN=154602;ExAC_ALL=0.1044;ExAC_AFR=0.0164;ExAC_AMR=0.0977;ExAC_EAS=0.0541;ExAC_FIN=0.1704;ExAC_NFE=0.1201;ExAC_OTH=0.116;ExAC_SAS=0.1216;CLNALLELEID=257236;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0663;gnomAD_exome_AFR=0.0112;gnomAD_exome_AMR=0.0381;gnomAD_exome_ASJ=0.0975;gnomAD_exome_EAS=0.0439;gnomAD_exome_FIN=0.0575;gnomAD_exome_NFE=0.0708;gnomAD_exome_OTH=0.0854;gnomAD_exome_SAS=0.1079;gnomAD_genome_ALL=0.0488;gnomAD_genome_AFR=0.0125;gnomAD_genome_AMR=0.0419;gnomAD_genome_ASJ=0.0828;gnomAD_genome_EAS=0.0476;gnomAD_genome_FIN=0.0601;gnomAD_genome_NFE=0.0655;gnomAD_genome_OTH=0.0745;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:978:509:15910:416:11732:-557.883,0,-819.438 +chr19 55668509 . A T 4657.06 . AB=0.45269;ABP=23.9676;AC=1;AF=0.5;AN=2;AO=488;CIGAR=1X;DP=1078;DPB=1078;DPRA=0;EPP=7.01506;EPPR=11.6472;GTI=0;LEN=1;MEANALT=3;MQM=27.918;MQMR=29.2425;NS=1;NUMALT=1;ODDS=1072.33;PAIRED=0.854508;PAIREDR=0.804511;PAO=0;PQA=0;PQR=0;PRO=0;QA=11608;QR=14831;RO=532;RPL=381;RPP=337.079;RPPR=420.978;RPR=107;RUN=1;SAF=194;SAP=47.5077;SAR=294;SRF=201;SRP=71.9913;SRR=331;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TNNI3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=19q13.42;esp6500siv2_all=0.3162;esp6500siv2_ea=0.1948;esp6500siv2_all=0.3162;esp6500siv2_ea=0.1948;1000g2015aug_all=0.458067;avsnp147=rs3729836;Kaviar_AF=0.283651;Kaviar_AC=43853;Kaviar_AN=154602;ExAC_ALL=0.3537;ExAC_AFR=0.6388;ExAC_AMR=0.5721;ExAC_EAS=0.4650;ExAC_FIN=0.3017;ExAC_NFE=0.2431;ExAC_OTH=0.3745;ExAC_SAS=0.4448;CLNALLELEID=52541;CLNDN=Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3166;gnomAD_exome_AFR=0.6256;gnomAD_exome_AMR=0.4886;gnomAD_exome_ASJ=0.2118;gnomAD_exome_EAS=0.4244;gnomAD_exome_FIN=0.2264;gnomAD_exome_NFE=0.2053;gnomAD_exome_OTH=0.3140;gnomAD_exome_SAS=0.4220;gnomAD_genome_ALL=0.3397;gnomAD_genome_AFR=0.6132;gnomAD_genome_AMR=0.4294;gnomAD_genome_ASJ=0.2086;gnomAD_genome_EAS=0.4355;gnomAD_genome_FIN=0.2298;gnomAD_genome_NFE=0.1976;gnomAD_genome_OTH=0.2867;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1078:532:14831:488:11608:-514.268,0,-714.888 +chr20 30414503 . C T 10688.6 . AB=0.454545;ABP=32.0291;AC=1;AF=0.5;AN=2;AO=735;CIGAR=1X;DP=1617;DPB=1617;DPRA=0;EPP=39.4113;EPPR=6.14808;GTI=0;LEN=1;MEANALT=3;MQM=34.4803;MQMR=34.6175;NS=1;NUMALT=1;ODDS=2461.15;PAIRED=0.92381;PAIREDR=0.90625;PAO=0;PQA=0;PQR=0;PRO=0;QA=19370;QR=24760;RO=800;RPL=456;RPP=95.5682;RPPR=31.2503;RPR=279;RUN=1;SAF=297;SAP=61.7464;SAR=438;SRF=336;SRP=47.4821;SRR=464;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon7:c.C1068T:p.V356V;cytoBand=20q11.21;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0185;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0185;1000g2015aug_all=0.00499201;avsnp147=rs17340492;Kaviar_AF=0.0106661;Kaviar_AC=1649;Kaviar_AN=154602;ExAC_ALL=0.0107;ExAC_AFR=0.0035;ExAC_AMR=0.0056;ExAC_EAS=0;ExAC_FIN=0.0206;ExAC_NFE=0.0157;ExAC_OTH=0.0110;ExAC_SAS=0.0005;CLNALLELEID=55682;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0115;gnomAD_exome_AFR=0.0025;gnomAD_exome_AMR=0.0074;gnomAD_exome_ASJ=0.0136;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0228;gnomAD_exome_NFE=0.0163;gnomAD_exome_OTH=0.0129;gnomAD_exome_SAS=0.0003;gnomAD_genome_ALL=0.0109;gnomAD_genome_AFR=0.0040;gnomAD_genome_AMR=0.0107;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0232;gnomAD_genome_NFE=0.0132;gnomAD_genome_OTH=0.0102;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1617:800:24760:735:19370:-1096.63,0,-1457.19 +chr20 32000462 . C T 9780.75 . AB=0.441476;ABP=49.7771;AC=1;AF=0.5;AN=2;AO=694;CIGAR=1X;DP=1572;DPB=1572;DPRA=0;EPP=8.52972;EPPR=3.53574;GTI=0;LEN=1;MEANALT=3;MQM=34.2003;MQMR=35.6642;NS=1;NUMALT=1;ODDS=2252.1;PAIRED=0.936599;PAIREDR=0.940741;PAO=0;PQA=0;PQR=0;PRO=0;QA=18602;QR=25243;RO=810;RPL=430;RPP=89.2309;RPPR=89.8692;RPR=264;RUN=1;SAF=326;SAP=8.52972;SAR=368;SRF=385;SRP=7.29963;SRR=425;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon4:c.G828A:p.K276K;cytoBand=20q11.21;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0195;esp6500siv2_all=0.0141;esp6500siv2_ea=0.0195;1000g2015aug_all=0.0071885;avsnp147=rs35938843;Kaviar_AF=0.0109184;Kaviar_AC=1688;Kaviar_AN=154602;ExAC_ALL=0.0107;ExAC_AFR=0.0026;ExAC_AMR=0.0031;ExAC_EAS=0.0003;ExAC_FIN=0.0034;ExAC_NFE=0.0139;ExAC_OTH=0.0067;ExAC_SAS=0.0164;CLNALLELEID=222853;CLNDN=Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0106;gnomAD_exome_AFR=0.0028;gnomAD_exome_AMR=0.0046;gnomAD_exome_ASJ=0.0054;gnomAD_exome_EAS=0.0002;gnomAD_exome_FIN=0.0038;gnomAD_exome_NFE=0.0153;gnomAD_exome_OTH=0.0099;gnomAD_exome_SAS=0.0166;gnomAD_genome_ALL=0.0106;gnomAD_genome_AFR=0.0037;gnomAD_genome_AMR=0.0072;gnomAD_genome_ASJ=0.0066;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0029;gnomAD_genome_NFE=0.0178;gnomAD_genome_OTH=0.0112;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1572:810:25243:694:18602:-998.058,0,-1549.26 +chr20 42745033 . G A 3844.25 . AB=0.431398;ABP=33.9953;AC=1;AF=0.5;AN=2;AO=327;CIGAR=1X;DP=758;DPB=758;DPRA=0;EPP=11.145;EPPR=11.2187;GTI=0;LEN=1;MEANALT=3;MQM=30.419;MQMR=31.2251;NS=1;NUMALT=1;ODDS=885.17;PAIRED=0.902141;PAIREDR=0.856021;PAO=0;PQA=0;PQR=0;PRO=0;QA=8026;QR=11091;RO=382;RPL=177;RPP=7.85129;RPPR=16.1073;RPR=150;RUN=1;SAF=161;SAP=3.17631;SAR=166;SRF=215;SRP=16.1073;SRR=167;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=20q13.12;esp6500siv2_all=.;esp6500siv2_ea=.;esp6500siv2_all=.;esp6500siv2_ea=.;1000g2015aug_all=0.00738818;avsnp147=rs116986535;Kaviar_AF=0.0055627;Kaviar_AC=860;Kaviar_AN=154602;ExAC_ALL=0.0125;ExAC_AFR=0.0083;ExAC_AMR=0.0246;ExAC_EAS=0;ExAC_FIN=0.0833;ExAC_NFE=0.0269;ExAC_OTH=0.0072;ExAC_SAS=0.0060;CLNALLELEID=141311;CLNDN=Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.0189;gnomAD_exome_AFR=0.0045;gnomAD_exome_AMR=0.0154;gnomAD_exome_ASJ=0.0165;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0257;gnomAD_exome_NFE=0.0308;gnomAD_exome_OTH=0.0229;gnomAD_exome_SAS=0.0064;gnomAD_genome_ALL=0.0217;gnomAD_genome_AFR=0.0054;gnomAD_genome_AMR=0.0203;gnomAD_genome_ASJ=0.0099;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0286;gnomAD_genome_NFE=0.0320;gnomAD_genome_OTH=0.0265;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:758:382:11091:327:8026:-394.253,0,-597.529 +chr20 42747247 . C T 12800 . AB=0.444387;ABP=54.6968;AC=1;AF=0.5;AN=2;AO=855;CIGAR=1X;DP=1924;DPB=1924;DPRA=0;EPP=3.01284;EPPR=9.13646;GTI=0;LEN=1;MEANALT=3;MQM=35.8292;MQMR=36.645;NS=1;NUMALT=1;ODDS=2947.3;PAIRED=0.928655;PAIREDR=0.895275;PAO=0;PQA=0;PQR=0;PRO=0;QA=22331;QR=22814;RO=783;RPL=569;RPP=206.415;RPPR=71.3687;RPR=286;RUN=1;SAF=407;SAP=7.27959;SAR=448;SRF=360;SRP=14.0174;SRR=423;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon3:c.G1186A:p.A396T;cytoBand=20q13.12;esp6500siv2_all=0.1971;esp6500siv2_ea=0.1290;esp6500siv2_all=0.1971;esp6500siv2_ea=0.1290;1000g2015aug_all=0.270367;avsnp147=rs3810510;Kaviar_AF=0.17732;Kaviar_AC=27414;Kaviar_AN=154602;ExAC_ALL=0.1846;ExAC_AFR=0.3438;ExAC_AMR=0.0907;ExAC_EAS=0.3714;ExAC_FIN=0.1023;ExAC_NFE=0.1362;ExAC_OTH=0.1789;ExAC_SAS=0.2811;CLNALLELEID=141310;CLNDN=Long_QT_syndrome|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.118;SIFT_pred=T;Polyphen2_HDIV_score=0.967;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.605;Polyphen2_HVAR_pred=P;LRT_score=0.097;LRT_pred=N;MutationTaster_score=0.006;MutationTaster_pred=P;MutationAssessor_score=1.53;MutationAssessor_pred=L;FATHMM_score=0.06;FATHMM_pred=T;PROVEAN_score=-2.54;PROVEAN_pred=D;VEST3_score=0.102;CADD_raw=5.490;CADD_phred=26.2;DANN_score=0.998;fathmm-MKL_coding_score=0.903;fathmm-MKL_coding_pred=D;MetaSVM_score=-1.000;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.516;integrated_confidence_value=0;GERP++_RS=3.84;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.956;SiPhy_29way_logOdds=11.654;hgmdPRO=.;gnomAD_exome_ALL=0.1768;gnomAD_exome_AFR=0.3488;gnomAD_exome_AMR=0.0963;gnomAD_exome_ASJ=0.1564;gnomAD_exome_EAS=0.3660;gnomAD_exome_FIN=0.1031;gnomAD_exome_NFE=0.1342;gnomAD_exome_OTH=0.1575;gnomAD_exome_SAS=0.2848;gnomAD_genome_ALL=0.1983;gnomAD_genome_AFR=0.3399;gnomAD_genome_AMR=0.1050;gnomAD_genome_ASJ=0.1159;gnomAD_genome_EAS=0.3668;gnomAD_genome_FIN=0.1030;gnomAD_genome_NFE=0.1291;gnomAD_genome_OTH=0.1656;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=1 GT:DP:RO:QR:AO:QA:GL 0/1:1924:783:22814:855:22331:-1310.21,0,-1361.54 +chr20 42815190 . G A 26772 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1212;CIGAR=1X;DP=1242;DPB=1242;DPRA=0;EPP=18.8413;EPPR=6.91895;GTI=0;LEN=1;MEANALT=3;MQM=33.5545;MQMR=34.8;NS=1;NUMALT=1;ODDS=1640.82;PAIRED=0.84571;PAIREDR=0.6;PAO=0;PQA=0;PQR=0;PRO=0;QA=35551;QR=141;RO=5;RPL=543;RPP=31.4544;RPPR=13.8677;RPR=669;RUN=1;SAF=464;SAP=147.517;SAR=748;SRF=4;SRP=6.91895;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon1:c.C156T:p.Y52Y,JPH2:NM_175913:exon1:c.C156T:p.Y52Y;cytoBand=20q13.12;esp6500siv2_all=0.8663;esp6500siv2_ea=0.8293;esp6500siv2_all=0.8663;esp6500siv2_ea=0.8293;1000g2015aug_all=0.854233;avsnp147=rs1883790;Kaviar_AF=0.83832;Kaviar_AC=129606;Kaviar_AN=154602;ExAC_ALL=0.8450;ExAC_AFR=0.9394;ExAC_AMR=0.9240;ExAC_EAS=0.7468;ExAC_FIN=0.8417;ExAC_NFE=0.8316;ExAC_OTH=0.8565;ExAC_SAS=0.8359;CLNALLELEID=141305;CLNDN=Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.8455;gnomAD_exome_AFR=0.9388;gnomAD_exome_AMR=0.9157;gnomAD_exome_ASJ=0.8447;gnomAD_exome_EAS=0.7481;gnomAD_exome_FIN=0.8464;gnomAD_exome_NFE=0.8292;gnomAD_exome_OTH=0.8395;gnomAD_exome_SAS=0.8367;gnomAD_genome_ALL=0.8612;gnomAD_genome_AFR=0.9363;gnomAD_genome_AMR=0.9043;gnomAD_genome_ASJ=0.8113;gnomAD_genome_EAS=0.7379;gnomAD_genome_FIN=0.8314;gnomAD_genome_NFE=0.8375;gnomAD_genome_OTH=0.8432;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1242:5:141:1212:35551:-2698.01,-354.473,0 +chr20 61039958 . T C 2450.22 . AB=0.425612;ABP=28.5323;AC=1;AF=0.5;AN=2;AO=226;CIGAR=1X;DP=531;DPB=531;DPRA=0;EPP=35.3326;EPPR=42.528;GTI=0;LEN=1;MEANALT=3;MQM=29.7168;MQMR=33.1588;NS=1;NUMALT=1;ODDS=564.184;PAIRED=0.743363;PAIREDR=0.797834;PAO=0;PQA=0;PQR=0;PRO=0;QA=5944;QR=7284;RO=277;RPL=55;RPP=132.299;RPPR=196.24;RPR=171;RUN=1;SAF=119;SAP=4.39389;SAR=107;SRF=147;SRP=5.27584;SRR=130;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon7:c.A1128G:p.P376P;cytoBand=20q13.33;esp6500siv2_all=0.6006;esp6500siv2_ea=0.5094;esp6500siv2_all=0.6006;esp6500siv2_ea=0.5094;1000g2015aug_all=0.629193;avsnp147=rs6061550;Kaviar_AF=0.532716;Kaviar_AC=82359;Kaviar_AN=154602;ExAC_ALL=0.5504;ExAC_AFR=0.7971;ExAC_AMR=0.4291;ExAC_EAS=0.5205;ExAC_FIN=0.5229;ExAC_NFE=0.5152;ExAC_OTH=0.5491;ExAC_SAS=0.6518;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5374;gnomAD_exome_AFR=0.8023;gnomAD_exome_AMR=0.4333;gnomAD_exome_ASJ=0.5052;gnomAD_exome_EAS=0.5123;gnomAD_exome_FIN=0.5147;gnomAD_exome_NFE=0.5142;gnomAD_exome_OTH=0.5200;gnomAD_exome_SAS=0.6482;gnomAD_genome_ALL=0.6055;gnomAD_genome_AFR=0.8005;gnomAD_genome_AMR=0.4432;gnomAD_genome_ASJ=0.5265;gnomAD_genome_EAS=0.5012;gnomAD_genome_FIN=0.5152;gnomAD_genome_NFE=0.5374;gnomAD_genome_OTH=0.5619;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:531:277:7284:226:5944:-270.313,0,-396.74 +chr20 61040453 . C G 652.72 . AB=0.557895;ABP=5.77607;AC=1;AF=0.5;AN=2;AO=53;CIGAR=1X;DP=95;DPB=95;DPRA=0;EPP=5.01789;EPPR=3.87889;GTI=0;LEN=1;MEANALT=2;MQM=33.3962;MQMR=30.25;NS=1;NUMALT=1;ODDS=107.648;PAIRED=0.792453;PAIREDR=0.725;PAO=0;PQA=0;PQR=0;PRO=0;QA=1353;QR=1235;RO=40;RPL=7;RPP=65.3275;RPPR=51.8684;RPR=46;RUN=1;SAF=28;SAP=3.37904;SAR=25;SRF=23;SRP=4.96463;SRR=17;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon6:c.G981C:p.S327S;cytoBand=20q13.33;esp6500siv2_all=0.5395;esp6500siv2_ea=0.4841;esp6500siv2_all=0.5395;esp6500siv2_ea=0.4841;1000g2015aug_all=0.534545;avsnp147=rs6061243;Kaviar_AF=0.469942;Kaviar_AC=72654;Kaviar_AN=154602;ExAC_ALL=0.4965;ExAC_AFR=0.6694;ExAC_AMR=0.4595;ExAC_EAS=0.4920;ExAC_FIN=0.4878;ExAC_NFE=0.4912;ExAC_OTH=0.5235;ExAC_SAS=0.4408;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4856;gnomAD_exome_AFR=0.6681;gnomAD_exome_AMR=0.4604;gnomAD_exome_ASJ=0.4207;gnomAD_exome_EAS=0.4802;gnomAD_exome_FIN=0.4670;gnomAD_exome_NFE=0.4921;gnomAD_exome_OTH=0.4783;gnomAD_exome_SAS=0.4363;gnomAD_genome_ALL=0.5419;gnomAD_genome_AFR=0.6670;gnomAD_genome_AMR=0.4617;gnomAD_genome_ASJ=0.4205;gnomAD_genome_EAS=0.4665;gnomAD_genome_FIN=0.4693;gnomAD_genome_NFE=0.5042;gnomAD_genome_OTH=0.4949;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:95:40:1235:53:1353:-78.672,0,-58.5286 +chr20 61040951 . C T 6825.48 . AB=0.422874;ABP=71.6756;AC=1;AF=0.5;AN=2;AO=562;CIGAR=1X;DP=1329;DPB=1329;DPRA=0;EPP=15.1273;EPPR=61.2547;GTI=0;LEN=1;MEANALT=3;MQM=32.9377;MQMR=32.9704;NS=1;NUMALT=1;ODDS=1571.62;PAIRED=0.846975;PAIREDR=0.870423;PAO=0;PQA=0;PQR=0;PRO=0;QA=14226;QR=20457;RO=710;RPL=374;RPP=136.683;RPPR=45.5956;RPR=188;RUN=1;SAF=261;SAP=9.19243;SAR=301;SRF=304;SRP=34.83;SRR=406;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon5:c.G852A:p.K284K;cytoBand=20q13.33;esp6500siv2_all=0.5360;esp6500siv2_ea=0.4776;esp6500siv2_all=0.5360;esp6500siv2_ea=0.4776;1000g2015aug_all=0.529553;avsnp147=rs6587239;Kaviar_AF=0.442724;Kaviar_AC=68446;Kaviar_AN=154602;ExAC_ALL=0.5461;ExAC_AFR=0.6845;ExAC_AMR=0.5418;ExAC_EAS=0.5244;ExAC_FIN=0.5655;ExAC_NFE=0.5459;ExAC_OTH=0.5856;ExAC_SAS=0.4710;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4727;gnomAD_exome_AFR=0.6652;gnomAD_exome_AMR=0.4560;gnomAD_exome_ASJ=0.4139;gnomAD_exome_EAS=0.4436;gnomAD_exome_FIN=0.4586;gnomAD_exome_NFE=0.4787;gnomAD_exome_OTH=0.4684;gnomAD_exome_SAS=0.4315;gnomAD_genome_ALL=0.5378;gnomAD_genome_AFR=0.6703;gnomAD_genome_AMR=0.4594;gnomAD_genome_ASJ=0.4139;gnomAD_genome_EAS=0.4308;gnomAD_genome_FIN=0.4642;gnomAD_genome_NFE=0.4993;gnomAD_genome_OTH=0.4898;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1329:710:20457:562:14226:-709.789,0,-1162.27 +chr20 61048549 . G A 8408.78 . AB=0.436039;ABP=54.6776;AC=1;AF=0.5;AN=2;AO=634;CIGAR=1X;DP=1454;DPB=1454;DPRA=0;EPP=6.51754;EPPR=15.0979;GTI=0;LEN=1;MEANALT=3;MQM=31.6719;MQMR=32.7523;NS=1;NUMALT=1;ODDS=1936.19;PAIRED=0.867508;PAIREDR=0.859025;PAO=0;PQA=0;PQR=0;PRO=0;QA=17370;QR=23434;RO=759;RPL=374;RPP=47.5221;RPPR=88.6361;RPR=260;RUN=1;SAF=241;SAP=82.1423;SAR=393;SRF=319;SRP=44.8977;SRR=440;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon3:c.C609T:p.D203D;cytoBand=20q13.33;esp6500siv2_all=0.4308;esp6500siv2_ea=0.4344;esp6500siv2_all=0.4308;esp6500siv2_ea=0.4344;1000g2015aug_all=0.388179;avsnp147=rs41305803;Kaviar_AF=0.383902;Kaviar_AC=59352;Kaviar_AN=154602;ExAC_ALL=0.4429;ExAC_AFR=0.4618;ExAC_AMR=0.4787;ExAC_EAS=0.4120;ExAC_FIN=0.4961;ExAC_NFE=0.4679;ExAC_OTH=0.4612;ExAC_SAS=0.3045;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4062;gnomAD_exome_AFR=0.4235;gnomAD_exome_AMR=0.4314;gnomAD_exome_ASJ=0.4049;gnomAD_exome_EAS=0.3686;gnomAD_exome_FIN=0.4108;gnomAD_exome_NFE=0.4383;gnomAD_exome_OTH=0.4247;gnomAD_exome_SAS=0.2714;gnomAD_genome_ALL=0.4237;gnomAD_genome_AFR=0.4263;gnomAD_genome_AMR=0.4378;gnomAD_genome_ASJ=0.4205;gnomAD_genome_EAS=0.3586;gnomAD_genome_FIN=0.4086;gnomAD_genome_NFE=0.4330;gnomAD_genome_OTH=0.4104;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:1454:759:23434:634:17370:-864.279,0,-1347.27 +chr20 61050082 . C T 3285.9 . AB=0.438687;ABP=21.916;AC=1;AF=0.5;AN=2;AO=254;CIGAR=1X;DP=579;DPB=579;DPRA=0;EPP=12.8931;EPPR=17.9162;GTI=0;LEN=1;MEANALT=3;MQM=30.9173;MQMR=30.6068;NS=1;NUMALT=1;ODDS=756.607;PAIRED=0.783465;PAIREDR=0.8;PAO=0;PQA=0;PQR=0;PRO=0;QA=6761;QR=9218;RO=295;RPL=179;RPP=95.4774;RPPR=87.2855;RPR=75;RUN=1;SAF=117;SAP=6.42994;SAR=137;SRF=127;SRP=15.384;SRR=168;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon2:c.G496A:p.G166S;cytoBand=20q13.33;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;esp6500siv2_all=8.4e-05;esp6500siv2_ea=0.0001;1000g2015aug_all=0.00239617;avsnp147=rs141950357;Kaviar_AF=0.0006598;Kaviar_AC=102;Kaviar_AN=154602;ExAC_ALL=0.0145;ExAC_AFR=0;ExAC_AMR=0;ExAC_EAS=0;ExAC_FIN=0;ExAC_NFE=0;ExAC_OTH=0;ExAC_SAS=0.0543;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=1.0;SIFT_pred=T;Polyphen2_HDIV_score=0.386;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.064;Polyphen2_HVAR_pred=B;LRT_score=0.966;LRT_pred=N;MutationTaster_score=0.917;MutationTaster_pred=D;MutationAssessor_score=-0.43;MutationAssessor_pred=N;FATHMM_score=-4.39;FATHMM_pred=D;PROVEAN_score=0.47;PROVEAN_pred=N;VEST3_score=0.035;CADD_raw=2.628;CADD_phred=20.4;DANN_score=0.955;fathmm-MKL_coding_score=0.666;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.131;MetaSVM_pred=T;MetaLR_score=0.591;MetaLR_pred=D;integrated_fitCons_score=0.598;integrated_confidence_value=0;GERP++_RS=-1.08;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=-0.464;phastCons7way_vertebrate=0.964;phastCons20way_mammalian=0.331;SiPhy_29way_logOdds=7.990;hgmdPRO=id:CM124794#"Bicuspid_aortic_valve";gnomAD_exome_ALL=0.0021;gnomAD_exome_AFR=0;gnomAD_exome_AMR=0.0002;gnomAD_exome_ASJ=0;gnomAD_exome_EAS=0;gnomAD_exome_FIN=0.0006;gnomAD_exome_NFE=8.473e-05;gnomAD_exome_OTH=0;gnomAD_exome_SAS=0.0101;gnomAD_genome_ALL=0.0001;gnomAD_genome_AFR=0.0001;gnomAD_genome_AMR=0;gnomAD_genome_ASJ=0;gnomAD_genome_EAS=0;gnomAD_genome_FIN=0.0003;gnomAD_genome_NFE=0;gnomAD_genome_OTH=0.0020;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:579:295:9218:254:6761:-347.438,0,-488.886 +chr21 35821821 . T C 20921.3 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=974;CIGAR=1X;DP=1006;DPB=1006;DPRA=0;EPP=43.0421;EPPR=4.09604;GTI=0;LEN=1;MEANALT=3;MQM=33.2567;MQMR=37.5;NS=1;NUMALT=1;ODDS=1284.18;PAIRED=0.919918;PAIREDR=0.875;PAO=0;PQA=0;PQR=0;PRO=0;QA=27277;QR=222;RO=8;RPL=454;RPP=12.7217;RPPR=3.0103;RPR=520;RUN=1;SAF=428;SAP=34.053;SAR=546;SRF=1;SRP=12.7819;SRR=7;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=KCNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE1:NM_001127670:exon2:c.A112G:p.S38G,KCNE1:NM_001270404:exon2:c.A112G:p.S38G,KCNE1:NM_001127668:exon3:c.A112G:p.S38G,KCNE1:NM_001127669:exon3:c.A112G:p.S38G,KCNE1:NM_001270402:exon3:c.A112G:p.S38G,KCNE1:NM_001270403:exon3:c.A112G:p.S38G,KCNE1:NM_001270405:exon3:c.A112G:p.S38G,KCNE1:NM_000219:exon4:c.A112G:p.S38G;cytoBand=21q22.12;esp6500siv2_all=0.6619;esp6500siv2_ea=0.6369;esp6500siv2_all=0.6619;esp6500siv2_ea=0.6369;1000g2015aug_all=0.673922;avsnp147=rs1805127;Kaviar_AF=0.640548;Kaviar_AC=99030;Kaviar_AN=154602;ExAC_ALL=0.6477;ExAC_AFR=0.7107;ExAC_AMR=0.5946;ExAC_EAS=0.7218;ExAC_FIN=0.5624;ExAC_NFE=0.6443;ExAC_OTH=0.6427;ExAC_SAS=0.6549;CLNALLELEID=136399;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Hearing_loss,_noise-induced,_susceptibility_to|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.401;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_pred=B;LRT_score=0.774;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0.11;MutationAssessor_pred=N;FATHMM_score=-3.09;FATHMM_pred=D;PROVEAN_score=-0.43;PROVEAN_pred=N;VEST3_score=0.236;CADD_raw=-1.420;CADD_phred=0.003;DANN_score=0.891;fathmm-MKL_coding_score=0.004;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.957;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.554;integrated_confidence_value=0;GERP++_RS=0.18;phyloP7way_vertebrate=-0.203;phyloP20way_mammalian=-0.954;phastCons7way_vertebrate=0.009;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=5.877;hgmdPRO=id:CM062783#"Noise-induced_hearing_loss_susceptibility_to_association";gnomAD_exome_ALL=0.6418;gnomAD_exome_AFR=0.7117;gnomAD_exome_AMR=0.5917;gnomAD_exome_ASJ=0.6991;gnomAD_exome_EAS=0.7109;gnomAD_exome_FIN=0.5716;gnomAD_exome_NFE=0.6420;gnomAD_exome_OTH=0.6541;gnomAD_exome_SAS=0.6524;gnomAD_genome_ALL=0.6592;gnomAD_genome_AFR=0.7092;gnomAD_genome_AMR=0.5622;gnomAD_genome_ASJ=0.7133;gnomAD_genome_EAS=0.7323;gnomAD_genome_FIN=0.5809;gnomAD_genome_NFE=0.6458;gnomAD_genome_OTH=0.6429;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1006:8:222:974:27277:-2102.27,-276.692,0 +chr22 19882984 . T G 11721.6 . AB=0.495158;ABP=3.32572;AC=1;AF=0.5;AN=2;AO=767;CIGAR=1X;DP=1549;DPB=1549;DPRA=0;EPP=4.03234;EPPR=4.7984;GTI=0;LEN=1;MEANALT=3;MQM=31.9009;MQMR=34.3821;NS=1;NUMALT=1;ODDS=2698.99;PAIRED=0.851369;PAIREDR=0.822134;PAO=0;PQA=0;PQR=0;PRO=0;QA=22027;QR=22571;RO=759;RPL=313;RPP=59.2959;RPPR=24.6649;RPR=454;RUN=1;SAF=428;SAP=25.4356;SAR=339;SRF=476;SRP=109.578;SRR=283;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon11:c.A895C:p.S299R;cytoBand=22q11.21;esp6500siv2_all=0.2709;esp6500siv2_ea=0.1662;esp6500siv2_all=0.2709;esp6500siv2_ea=0.1662;1000g2015aug_all=0.251198;avsnp147=rs5992495;Kaviar_AF=0.185929;Kaviar_AC=28745;Kaviar_AN=154602;ExAC_ALL=0.1879;ExAC_AFR=0.5139;ExAC_AMR=0.1389;ExAC_EAS=0.0655;ExAC_FIN=0.1259;ExAC_NFE=0.1665;ExAC_OTH=0.1778;ExAC_SAS=0.2041;CLNALLELEID=259130;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.495;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_pred=B;LRT_score=0.134;LRT_pred=N;MutationTaster_score=1;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=1.2;FATHMM_pred=T;PROVEAN_score=-0.64;PROVEAN_pred=N;VEST3_score=0.142;CADD_raw=-1.829;CADD_phred=0.002;DANN_score=0.245;fathmm-MKL_coding_score=0.017;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.952;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=-2.79;phyloP7way_vertebrate=-0.767;phyloP20way_mammalian=-2.460;phastCons7way_vertebrate=0.019;phastCons20way_mammalian=0.000;SiPhy_29way_logOdds=3.766;hgmdPRO=.;gnomAD_exome_ALL=0.1790;gnomAD_exome_AFR=0.5226;gnomAD_exome_AMR=0.1379;gnomAD_exome_ASJ=0.1877;gnomAD_exome_EAS=0.0634;gnomAD_exome_FIN=0.1186;gnomAD_exome_NFE=0.1666;gnomAD_exome_OTH=0.1752;gnomAD_exome_SAS=0.2041;gnomAD_genome_ALL=0.2514;gnomAD_genome_AFR=0.5162;gnomAD_genome_AMR=0.1256;gnomAD_genome_ASJ=0.1933;gnomAD_genome_EAS=0.0580;gnomAD_genome_FIN=0.1348;gnomAD_genome_NFE=0.1572;gnomAD_genome_OTH=0.2002;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.206439::-0.573061;Heart_Left_Ventricle=Heart_Left_Ventricle::0.209559::-0.436539;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:1549:759:22571:767:22027:-1188.48,0,-1291.79 +chr22 19885548 . G T 2772.01 . AB=0.495575;ABP=3.08717;AC=1;AF=0.5;AN=2;AO=224;CIGAR=1X;DP=452;DPB=452;DPRA=0;EPP=6.88793;EPPR=41.6545;GTI=0;LEN=1;MEANALT=3;MQM=32.1607;MQMR=35.2176;NS=1;NUMALT=1;ODDS=638.279;PAIRED=0.928571;PAIREDR=0.912037;PAO=0;PQA=0;PQR=0;PRO=0;QA=5907;QR=6186;RO=216;RPL=48;RPP=161.838;RPPR=157.587;RPR=176;RUN=1;SAF=150;SAP=59.0033;SAR=74;SRF=123;SRP=12.0581;SRR=93;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;esp6500siv2_all=0.2428;esp6500siv2_ea=0.1568;esp6500siv2_all=0.2428;esp6500siv2_ea=0.1568;1000g2015aug_all=0.242212;avsnp147=rs12169091;Kaviar_AF=0.111493;Kaviar_AC=17237;Kaviar_AN=154602;ExAC_ALL=0.2421;ExAC_AFR=0.5055;ExAC_AMR=0.25;ExAC_EAS=0.0960;ExAC_FIN=0.3077;ExAC_NFE=0.2105;ExAC_OTH=0.1771;ExAC_SAS=0.2133;CLNALLELEID=378611;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1753;gnomAD_exome_AFR=0.4911;gnomAD_exome_AMR=0.1389;gnomAD_exome_ASJ=0.1878;gnomAD_exome_EAS=0.0627;gnomAD_exome_FIN=0.1143;gnomAD_exome_NFE=0.1687;gnomAD_exome_OTH=0.1752;gnomAD_exome_SAS=0.2049;gnomAD_genome_ALL=0.2410;gnomAD_genome_AFR=0.4801;gnomAD_genome_AMR=0.1244;gnomAD_genome_ASJ=0.1921;gnomAD_genome_EAS=0.0580;gnomAD_genome_FIN=0.1345;gnomAD_genome_NFE=0.1568;gnomAD_genome_OTH=0.2;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.204545::-0.561474;Heart_Left_Ventricle=Heart_Left_Ventricle::0.205882::-0.437179;ALLELE_END;COSO_score=0 GT:DP:RO:QR:AO:QA:GL 0/1:452:216:6186:224:5907:-307.345,0,-358.847 +chr22 19905802 . G A 28794.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1219;CIGAR=1X;DP=1282;DPB=1282;DPRA=0;EPP=191.166;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=37.9902;MQMR=35.32;NS=1;NUMALT=1;ODDS=1490.14;PAIRED=0.957342;PAIREDR=0.88;PAO=0;PQA=0;PQR=0;PRO=0;QA=35255;QR=693;RO=25;RPL=676;RPP=34.5207;RPPR=5.18177;RPR=543;RUN=1;SAF=451;SAP=182.017;SAR=768;SRF=13;SRP=3.09716;SRR=12;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;esp6500siv2_all=0.6240;esp6500siv2_ea=0.5597;esp6500siv2_all=0.6240;esp6500siv2_ea=0.5597;1000g2015aug_all=0.7498;avsnp147=rs756661;Kaviar_AF=0.119746;Kaviar_AC=18513;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.6590;gnomAD_genome_AFR=0.7796;gnomAD_genome_AMR=0.7428;gnomAD_genome_ASJ=0.6589;gnomAD_genome_EAS=0.9350;gnomAD_genome_FIN=0.6282;gnomAD_genome_NFE=0.5638;gnomAD_genome_OTH=0.6235;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1282:25:693:1219:35255:-2921.78,-319.919,0 +chr22 19906511 . G A 1426.09 . AB=0.416667;ABP=17.4868;AC=1;AF=0.5;AN=2;AO=100;CIGAR=1X;DP=240;DPB=240;DPRA=0;EPP=34.3664;EPPR=3.0761;GTI=0;LEN=1;MEANALT=3;MQM=35.51;MQMR=35.7348;NS=1;NUMALT=1;ODDS=328.368;PAIRED=0.95;PAIREDR=0.863636;PAO=0;PQA=0;PQR=0;PRO=0;QA=2814;QR=4078;RO=132;RPL=55;RPP=5.18177;RPPR=62.2323;RPR=45;RUN=1;SAF=32;SAP=31.1526;SAR=68;SRF=45;SRP=32.0291;SRR=87;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon4:c.C246T:p.L82L;cytoBand=22q11.21;esp6500siv2_all=0.2113;esp6500siv2_ea=0.1476;esp6500siv2_all=0.2113;esp6500siv2_ea=0.1476;1000g2015aug_all=0.168131;avsnp147=rs11541479;Kaviar_AF=0.141783;Kaviar_AC=21920;Kaviar_AN=154602;ExAC_ALL=0.1463;ExAC_AFR=0.3763;ExAC_AMR=0.0842;ExAC_EAS=0.0126;ExAC_FIN=0.1250;ExAC_NFE=0.1510;ExAC_OTH=0.1578;ExAC_SAS=0.1154;CLNALLELEID=259140;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.1355;gnomAD_exome_AFR=0.3716;gnomAD_exome_AMR=0.0831;gnomAD_exome_ASJ=0.1627;gnomAD_exome_EAS=0.0116;gnomAD_exome_FIN=0.1131;gnomAD_exome_NFE=0.1457;gnomAD_exome_OTH=0.1472;gnomAD_exome_SAS=0.1135;gnomAD_genome_ALL=0.1985;gnomAD_genome_AFR=0.3737;gnomAD_genome_AMR=0.0885;gnomAD_genome_ASJ=0.1457;gnomAD_genome_EAS=0.0100;gnomAD_genome_FIN=0.1289;gnomAD_genome_NFE=0.1431;gnomAD_genome_OTH=0.1612;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.153409::-0.448377;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-1 GT:DP:RO:QR:AO:QA:GL 0/1:240:132:4078:100:2814:-156.391,0,-250.315 +chr22 19907099 . C A 9654.5 . AB=0.42097;ABP=107.006;AC=1;AF=0.5;AN=2;AO=807;CIGAR=1X;DP=1917;DPB=1917;DPRA=0;EPP=37.3691;EPPR=107.963;GTI=0;LEN=1;MEANALT=3;MQM=31.0112;MQMR=32.1659;NS=1;NUMALT=1;ODDS=2223.03;PAIRED=0.892193;PAIREDR=0.872811;PAO=0;PQA=0;PQR=0;PRO=0;QA=20791;QR=32389;RO=1085;RPL=307;RPP=103.24;RPPR=109.805;RPR=500;RUN=1;SAF=426;SAP=8.45916;SAR=381;SRF=611;SRP=40.5738;SRR=474;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon3:c.G196T:p.A66S;cytoBand=22q11.21;esp6500siv2_all=0.2956;esp6500siv2_ea=0.3312;esp6500siv2_all=0.2956;esp6500siv2_ea=0.3312;1000g2015aug_all=0.483027;avsnp147=rs5748469;Kaviar_AF=0.309356;Kaviar_AC=47827;Kaviar_AN=154602;ExAC_ALL=0.4445;ExAC_AFR=0.2673;ExAC_AMR=0.5702;ExAC_EAS=0.7942;ExAC_FIN=0.4653;ExAC_NFE=0.4078;ExAC_OTH=0.5167;ExAC_SAS=0.4973;CLNALLELEID=259137;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.069;SIFT_pred=T;Polyphen2_HDIV_score=0.997;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.99;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_pred=D;MutationTaster_score=0.001;MutationTaster_pred=P;MutationAssessor_score=4.24;MutationAssessor_pred=H;FATHMM_score=0.7;FATHMM_pred=T;PROVEAN_score=-1.95;PROVEAN_pred=N;VEST3_score=0.194;CADD_raw=6.178;CADD_phred=28.6;DANN_score=0.996;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.955;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=0.706;integrated_confidence_value=0;GERP++_RS=3.96;phyloP7way_vertebrate=0.033;phyloP20way_mammalian=0.852;phastCons7way_vertebrate=0.028;phastCons20way_mammalian=0.975;SiPhy_29way_logOdds=15.975;hgmdPRO=.;gnomAD_exome_ALL=0.4468;gnomAD_exome_AFR=0.2220;gnomAD_exome_AMR=0.6137;gnomAD_exome_ASJ=0.4187;gnomAD_exome_EAS=0.8557;gnomAD_exome_FIN=0.4735;gnomAD_exome_NFE=0.3327;gnomAD_exome_OTH=0.4239;gnomAD_exome_SAS=0.5044;gnomAD_genome_ALL=0.3842;gnomAD_genome_AFR=0.2403;gnomAD_genome_AMR=0.6127;gnomAD_genome_ASJ=0.4536;gnomAD_genome_EAS=0.8759;gnomAD_genome_FIN=0.4773;gnomAD_genome_NFE=0.3772;gnomAD_genome_OTH=0.4131;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=1 GT:DP:RO:QR:AO:QA:GL 0/1:1917:1085:32389:807:20791:-996.834,0,-1840.69 +chr22 19907118 . G A 31537.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1699;CIGAR=1X;DP=1971;DPB=1971;DPRA=0;EPP=94.124;EPPR=28.6173;GTI=0;LEN=1;MEANALT=3;MQM=32.03;MQMR=31.3774;NS=1;NUMALT=1;ODDS=1982.56;PAIRED=0.872866;PAIREDR=0.886792;PAO=0;PQA=0;PQR=0;PRO=0;QA=42917;QR=1232;RO=53;RPL=670;RPP=167.732;RPPR=3.05127;RPR=1029;RUN=1;SAF=842;SAP=3.29787;SAR=857;SRF=33;SRP=9.93443;SRR=20;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon3:c.C177T:p.A59A;cytoBand=22q11.21;esp6500siv2_all=0.4538;esp6500siv2_ea=0.4793;esp6500siv2_all=0.4538;esp6500siv2_ea=0.4793;1000g2015aug_all=0.596845;avsnp147=rs5748470;Kaviar_AF=0.414833;Kaviar_AC=64134;Kaviar_AN=154602;ExAC_ALL=0.5649;ExAC_AFR=0.4302;ExAC_AMR=0.6263;ExAC_EAS=0.8092;ExAC_FIN=0.5712;ExAC_NFE=0.5426;ExAC_OTH=0.6339;ExAC_SAS=0.6157;CLNALLELEID=259134;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.5712;gnomAD_exome_AFR=0.3910;gnomAD_exome_AMR=0.6922;gnomAD_exome_ASJ=0.5833;gnomAD_exome_EAS=0.8687;gnomAD_exome_FIN=0.5855;gnomAD_exome_NFE=0.4826;gnomAD_exome_OTH=0.5656;gnomAD_exome_SAS=0.6204;gnomAD_genome_ALL=0.5249;gnomAD_genome_AFR=0.4119;gnomAD_genome_AMR=0.6899;gnomAD_genome_ASJ=0.5993;gnomAD_genome_EAS=0.8856;gnomAD_genome_FIN=0.6070;gnomAD_genome_NFE=0.5193;gnomAD_genome_OTH=0.5626;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1971:53:1232:1699:42917:-3178.42,-427.352,0 +chr22 19907192 . A G 33626.4 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1636;CIGAR=1X;DP=1726;DPB=1726;DPRA=0;EPP=3.35009;EPPR=11.5447;GTI=0;LEN=1;MEANALT=3;MQM=31.4505;MQMR=28.9767;NS=1;NUMALT=1;ODDS=1981.19;PAIRED=0.880196;PAIREDR=0.860465;PAO=0;PQA=0;PQR=0;PRO=0;QA=47764;QR=1002;RO=43;RPL=1199;RPP=773.702;RPPR=29.7245;RPR=437;RUN=1;SAF=571;SAP=326.921;SAR=1065;SRF=22;SRP=3.0608;SRR=21;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=22q11.21;esp6500siv2_all=0.6290;esp6500siv2_ea=0.5575;esp6500siv2_all=0.6290;esp6500siv2_ea=0.5575;1000g2015aug_all=0.754393;avsnp147=rs5748471;Kaviar_AF=0.106415;Kaviar_AC=16452;Kaviar_AN=154602;ExAC_ALL=.;ExAC_AFR=.;ExAC_AMR=.;ExAC_EAS=.;ExAC_FIN=.;ExAC_NFE=.;ExAC_OTH=.;ExAC_SAS=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=.;gnomAD_exome_AFR=.;gnomAD_exome_AMR=.;gnomAD_exome_ASJ=.;gnomAD_exome_EAS=.;gnomAD_exome_FIN=.;gnomAD_exome_NFE=.;gnomAD_exome_OTH=.;gnomAD_exome_SAS=.;gnomAD_genome_ALL=0.6644;gnomAD_genome_AFR=0.7974;gnomAD_genome_AMR=0.7470;gnomAD_genome_ASJ=0.6567;gnomAD_genome_EAS=0.9361;gnomAD_genome_FIN=0.6278;gnomAD_genome_NFE=0.5641;gnomAD_genome_OTH=0.6217;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:1726:43:1002:1636:47764:-3474.4,-432.304,0 +chrX 31224684 . A G 11794.8 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=459;CIGAR=1X;DP=482;DPB=482;DPRA=0;EPP=6.45911;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=39.6231;MQMR=8;NS=1;NUMALT=1;ODDS=636.635;PAIRED=0.978214;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=14066;QR=21;RO=1;RPL=142;RPP=147.893;RPPR=5.18177;RPR=317;RUN=1;SAF=279;SAP=49.3776;SAR=180;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.2;esp6500siv2_all=0.8265;esp6500siv2_ea=0.8793;esp6500siv2_all=0.8265;esp6500siv2_ea=0.8793;1000g2015aug_all=0.803974;avsnp147=rs2293668;Kaviar_AF=0.819032;Kaviar_AC=126624;Kaviar_AN=154602;ExAC_ALL=0.8836;ExAC_AFR=0.7648;ExAC_AMR=0.9364;ExAC_EAS=0.8401;ExAC_FIN=0.9095;ExAC_NFE=0.9039;ExAC_OTH=0.8868;ExAC_SAS=0.8594;CLNALLELEID=100754;CLNDN=Dilated_cardiomyopathy_3B|not_specified;CLNDISDB=MedGen:C3668940,OMIM:302045|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.8678;gnomAD_exome_AFR=0.7396;gnomAD_exome_AMR=0.9213;gnomAD_exome_ASJ=0.8616;gnomAD_exome_EAS=0.8037;gnomAD_exome_FIN=0.8828;gnomAD_exome_NFE=0.8838;gnomAD_exome_OTH=0.8921;gnomAD_exome_SAS=0.8357;gnomAD_genome_ALL=0.8406;gnomAD_genome_AFR=0.7370;gnomAD_genome_AMR=0.9152;gnomAD_genome_ASJ=0.8723;gnomAD_genome_EAS=0.7939;gnomAD_genome_FIN=0.8858;gnomAD_genome_NFE=0.8864;gnomAD_genome_OTH=0.8396;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:482:1:21:459:14066:-1202.7,-137.773,0 +chrX 31496350 . C T 17463.6 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=759;CIGAR=1X;DP=784;DPB=784;DPRA=0;EPP=137.73;EPPR=3.73412;GTI=0;LEN=1;MEANALT=3;MQM=37.0659;MQMR=35.6667;NS=1;NUMALT=1;ODDS=1032.81;PAIRED=0.924901;PAIREDR=0.333333;PAO=0;PQA=0;PQR=0;PRO=0;QA=21322;QR=64;RO=3;RPL=295;RPP=84.7223;RPPR=3.73412;RPR=464;RUN=1;SAF=366;SAP=5.09594;SAR=393;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004014:exon5:c.G623A:p.R208Q,DMD:NM_004013:exon16:c.G1430A:p.R477Q,DMD:NM_004020:exon16:c.G1430A:p.R477Q,DMD:NM_004021:exon16:c.G1430A:p.R477Q,DMD:NM_004022:exon16:c.G1430A:p.R477Q,DMD:NM_004023:exon16:c.G1430A:p.R477Q,DMD:NM_004011:exon31:c.G4787A:p.R1596Q,DMD:NM_004012:exon31:c.G4778A:p.R1593Q,DMD:NM_000109:exon59:c.G8786A:p.R2929Q,DMD:NM_004006:exon59:c.G8810A:p.R2937Q,DMD:NM_004009:exon59:c.G8798A:p.R2933Q,DMD:NM_004010:exon59:c.G8441A:p.R2814Q;cytoBand=Xp21.2;esp6500siv2_all=0.9568;esp6500siv2_ea=0.9392;esp6500siv2_all=0.9568;esp6500siv2_ea=0.9392;1000g2015aug_all=0.881854;avsnp147=rs1800280;Kaviar_AF=0.0006662;Kaviar_AC=103;Kaviar_AN=154602;ExAC_ALL=0.9045;ExAC_AFR=0.9888;ExAC_AMR=0.7877;ExAC_EAS=0.9234;ExAC_FIN=0.9421;ExAC_NFE=0.9459;ExAC_OTH=0.9300;ExAC_SAS=0.7103;CLNALLELEID=177478;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.624;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=1.01;FATHMM_pred=T;PROVEAN_score=0.26;PROVEAN_pred=N;VEST3_score=0.203;CADD_raw=2.138;CADD_phred=17.10;DANN_score=0.834;fathmm-MKL_coding_score=0.307;fathmm-MKL_coding_pred=N;MetaSVM_score=-0.945;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=4.23;phyloP7way_vertebrate=0.084;phyloP20way_mammalian=0.154;phastCons7way_vertebrate=0.995;phastCons20way_mammalian=0.995;SiPhy_29way_logOdds=8.899;hgmdPRO=id:CM135605#"Muscular_dystrophy_Duchenne";gnomAD_exome_ALL=0.8970;gnomAD_exome_AFR=0.9900;gnomAD_exome_AMR=0.7949;gnomAD_exome_ASJ=0.9789;gnomAD_exome_EAS=0.9222;gnomAD_exome_FIN=0.9416;gnomAD_exome_NFE=0.9407;gnomAD_exome_OTH=0.9166;gnomAD_exome_SAS=0.7056;gnomAD_genome_ALL=0.9524;gnomAD_genome_AFR=0.9879;gnomAD_genome_AMR=0.8336;gnomAD_genome_ASJ=0.9565;gnomAD_genome_EAS=0.9268;gnomAD_genome_FIN=0.9410;gnomAD_genome_NFE=0.9457;gnomAD_genome_OTH=0.9392;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:784:3:64:759:21322:-1771.78,-223.748,0 +chrX 32380996 . C T 13021.7 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=561;CIGAR=1X;DP=582;DPB=582;DPRA=0;EPP=3.10707;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=38.7005;MQMR=39.25;NS=1;NUMALT=1;ODDS=712.712;PAIRED=0.982175;PAIREDR=0.75;PAO=0;PQA=0;PQR=0;PRO=0;QA=15904;QR=243;RO=8;RPL=390;RPP=188.654;RPPR=4.09604;RPR=171;RUN=1;SAF=225;SAP=50.7014;SAR=336;SRF=1;SRP=12.7819;SRR=7;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004011:exon9:c.G1211A:p.R404H,DMD:NM_004012:exon9:c.G1202A:p.R401H,DMD:NM_000109:exon37:c.G5210A:p.R1737H,DMD:NM_004006:exon37:c.G5234A:p.R1745H,DMD:NM_004009:exon37:c.G5222A:p.R1741H,DMD:NM_004010:exon37:c.G4865A:p.R1622H;cytoBand=Xp21.1;esp6500siv2_all=0.3331;esp6500siv2_ea=0.4770;esp6500siv2_all=0.3331;esp6500siv2_ea=0.4770;1000g2015aug_all=0.465166;avsnp147=rs1801187;Kaviar_AF=0.482982;Kaviar_AC=74670;Kaviar_AN=154602;ExAC_ALL=0.5142;ExAC_AFR=0.0782;ExAC_AMR=0.7450;ExAC_EAS=0.7371;ExAC_FIN=0.5348;ExAC_NFE=0.4823;ExAC_OTH=0.5008;ExAC_SAS=0.6657;CLNALLELEID=100557;CLNDN=Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype;CLNDISDB=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;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=0.006;SIFT_pred=D;Polyphen2_HDIV_score=1.0;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.997;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_pred=U;MutationTaster_score=0.004;MutationTaster_pred=P;MutationAssessor_score=2.25;MutationAssessor_pred=M;FATHMM_score=0.74;FATHMM_pred=T;PROVEAN_score=-2.41;PROVEAN_pred=N;VEST3_score=0.4;CADD_raw=6.788;CADD_phred=32;DANN_score=1.000;fathmm-MKL_coding_score=0.961;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.904;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=5.24;phyloP7way_vertebrate=0.871;phyloP20way_mammalian=0.892;phastCons7way_vertebrate=0.998;phastCons20way_mammalian=0.940;SiPhy_29way_logOdds=17.920;hgmdPRO=.;gnomAD_exome_ALL=0.5294;gnomAD_exome_AFR=0.0713;gnomAD_exome_AMR=0.7287;gnomAD_exome_ASJ=0.4467;gnomAD_exome_EAS=0.7340;gnomAD_exome_FIN=0.5289;gnomAD_exome_NFE=0.4775;gnomAD_exome_OTH=0.5219;gnomAD_exome_SAS=0.6587;gnomAD_genome_ALL=0.3913;gnomAD_genome_AFR=0.0789;gnomAD_genome_AMR=0.6987;gnomAD_genome_ASJ=0.4293;gnomAD_genome_EAS=0.7234;gnomAD_genome_FIN=0.5224;gnomAD_genome_NFE=0.4730;gnomAD_genome_OTH=0.5245;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=1 GT:DP:RO:QR:AO:QA:GL 1/1:582:8:243:561:15904:-1327.29,-150.529,0 +chrX 32472763 . CTTTTTTTTTTTTTA CTTTTTTTTTTTTTTA 674.893 . AB=0.342205;ABP=59.8897;AC=1;AF=0.5;AN=2;AO=90;CIGAR=1M1I14M;DP=263;DPB=278.133;DPRA=0;EPP=135.132;EPPR=51.5402;GTI=0;LEN=1;MEANALT=30;MQM=28.1889;MQMR=31.9767;NS=1;NUMALT=1;ODDS=74.6883;PAIRED=1;PAIREDR=0.930233;PAO=6;PQA=107.5;PQR=107.5;PRO=6;QA=1953;QR=1324;RO=43;RPL=75;RPP=89.8692;RPPR=11.5447;RPR=15;RUN=1;SAF=79;SAP=114.576;SAR=11;SRF=32;SRP=25.2805;SRR=11;TYPE=ins;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;cytoBand=Xp21.1;esp6500siv2_all=0.3803;esp6500siv2_ea=0.4808;esp6500siv2_all=0.3803;esp6500siv2_ea=0.4808;1000g2015aug_all=0.464106;avsnp147=rs5902031;Kaviar_AF=0.0006921;Kaviar_AC=107;Kaviar_AN=154602;ExAC_ALL=0.4978;ExAC_AFR=0.2142;ExAC_AMR=0.5211;ExAC_EAS=0.5235;ExAC_FIN=0.6202;ExAC_NFE=0.5093;ExAC_OTH=0.5461;ExAC_SAS=0.5703;CLNALLELEID=193126;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.4290;gnomAD_exome_AFR=0.2303;gnomAD_exome_AMR=0.4554;gnomAD_exome_ASJ=0.4264;gnomAD_exome_EAS=0.4593;gnomAD_exome_FIN=0.4691;gnomAD_exome_NFE=0.4423;gnomAD_exome_OTH=0.4308;gnomAD_exome_SAS=0.4395;gnomAD_genome_ALL=0.5453;gnomAD_genome_AFR=0.2239;gnomAD_genome_AMR=0.7074;gnomAD_genome_ASJ=0.6408;gnomAD_genome_EAS=0.7851;gnomAD_genome_FIN=0.6083;gnomAD_genome_NFE=0.6948;gnomAD_genome_OTH=0.7;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 0/1:263:43:1324:90:1953:-114.416,0,-50.3619 +chrX 32503194 . T C 12570.1 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=508;CIGAR=1X;DP=525;DPB=525;DPRA=0;EPP=34.6249;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=39.2933;MQMR=38.3333;NS=1;NUMALT=1;ODDS=657.595;PAIRED=0.970472;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=15166;QR=172;RO=6;RPL=361;RPP=198.768;RPPR=3.0103;RPR=147;RUN=1;SAF=194;SAP=64.5638;SAR=314;SRF=2;SRP=4.45795;SRR=4;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon21:c.A2621G:p.D874G,DMD:NM_004006:exon21:c.A2645G:p.D882G,DMD:NM_004009:exon21:c.A2633G:p.D878G,DMD:NM_004010:exon21:c.A2276G:p.D759G;cytoBand=Xp21.1;esp6500siv2_all=0.6502;esp6500siv2_ea=0.6629;esp6500siv2_all=0.6502;esp6500siv2_ea=0.6629;1000g2015aug_all=0.748344;avsnp147=rs228406;Kaviar_AF=0.0004528;Kaviar_AC=70;Kaviar_AN=154602;ExAC_ALL=0.7211;ExAC_AFR=0.6282;ExAC_AMR=0.8661;ExAC_EAS=0.8837;ExAC_FIN=0.8215;ExAC_NFE=0.6644;ExAC_OTH=0.7211;ExAC_SAS=0.7829;CLNALLELEID=177575;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.523;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_pred=B;LRT_score=0.185;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_pred=N;FATHMM_score=0.73;FATHMM_pred=T;PROVEAN_score=0.45;PROVEAN_pred=N;VEST3_score=0.056;CADD_raw=0.631;CADD_phred=8.366;DANN_score=0.803;fathmm-MKL_coding_score=0.573;fathmm-MKL_coding_pred=D;MetaSVM_score=-0.978;MetaSVM_pred=T;MetaLR_score=0.000;MetaLR_pred=T;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=3.07;phyloP7way_vertebrate=-2.035;phyloP20way_mammalian=-0.288;phastCons7way_vertebrate=0.802;phastCons20way_mammalian=0.978;SiPhy_29way_logOdds=5.710;hgmdPRO=.;gnomAD_exome_ALL=0.7295;gnomAD_exome_AFR=0.6262;gnomAD_exome_AMR=0.8538;gnomAD_exome_ASJ=0.6110;gnomAD_exome_EAS=0.8862;gnomAD_exome_FIN=0.8121;gnomAD_exome_NFE=0.6613;gnomAD_exome_OTH=0.7125;gnomAD_exome_SAS=0.7806;gnomAD_genome_ALL=0.6958;gnomAD_genome_AFR=0.6291;gnomAD_genome_AMR=0.8068;gnomAD_genome_ASJ=0.6243;gnomAD_genome_EAS=0.8869;gnomAD_genome_FIN=0.8215;gnomAD_genome_NFE=0.6750;gnomAD_genome_OTH=0.7336;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:525:6:172:508:15166:-1289.25,-140.616,0 +chrX 119590533 . T A 13715.9 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=557;CIGAR=1X;DP=567;DPB=567;DPRA=0;EPP=435.313;EPPR=3.25157;GTI=0;LEN=1;MEANALT=2;MQM=40.7199;MQMR=39.8889;NS=1;NUMALT=1;ODDS=708.61;PAIRED=0.985637;PAIREDR=0.888889;PAO=0;PQA=0;PQR=0;PRO=0;QA=16543;QR=205;RO=9;RPL=235;RPP=32.5182;RPPR=9.04217;RPR=322;RUN=1;SAF=253;SAP=13.1503;SAR=304;SRF=4;SRP=3.25157;SRR=5;TYPE=snp;technology.Illumina-Nextseq=1;ANNOVAR_DATE=2016-02-01;Func.refGene=exonic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMP2:NM_001122606:exon2:c.A156T:p.V52V,LAMP2:NM_002294:exon2:c.A156T:p.V52V,LAMP2:NM_013995:exon2:c.A156T:p.V52V;cytoBand=Xq24;esp6500siv2_all=0.3986;esp6500siv2_ea=0.4261;esp6500siv2_all=0.3986;esp6500siv2_ea=0.4261;1000g2015aug_all=0.380927;avsnp147=rs12097;Kaviar_AF=0.373727;Kaviar_AC=57779;Kaviar_AN=154602;ExAC_ALL=0.4280;ExAC_AFR=0.3712;ExAC_AMR=0.3301;ExAC_EAS=0.4138;ExAC_FIN=0.4945;ExAC_NFE=0.4528;ExAC_OTH=0.4165;ExAC_SAS=0.4478;CLNALLELEID=53583;CLNDN=Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_pred=.;VEST3_score=.;CADD_raw=.;CADD_phred=.;DANN_score=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_pred=.;MetaSVM_score=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_pred=.;integrated_fitCons_score=.;integrated_confidence_value=.;GERP++_RS=.;phyloP7way_vertebrate=.;phyloP20way_mammalian=.;phastCons7way_vertebrate=.;phastCons20way_mammalian=.;SiPhy_29way_logOdds=.;hgmdPRO=.;gnomAD_exome_ALL=0.3895;gnomAD_exome_AFR=0.3442;gnomAD_exome_AMR=0.3115;gnomAD_exome_ASJ=0.4072;gnomAD_exome_EAS=0.3817;gnomAD_exome_FIN=0.4445;gnomAD_exome_NFE=0.4100;gnomAD_exome_OTH=0.3740;gnomAD_exome_SAS=0.3989;gnomAD_genome_ALL=0.4039;gnomAD_genome_AFR=0.3573;gnomAD_genome_AMR=0.3436;gnomAD_genome_ASJ=0.4348;gnomAD_genome_EAS=0.3719;gnomAD_genome_FIN=0.4629;gnomAD_genome_NFE=0.4223;gnomAD_genome_OTH=0.3971;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ALLELE_END;COSO_score=-2 GT:DP:RO:QR:AO:QA:GL 1/1:567:9:205:557:16543:-1423.78,-152.179,0