{"_id":"chr2:g.178614750G>T","_version":1,"chrom":"2","clingen":{"caid":"CA349608078"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"D","codon_degeneracy":[0,0,0,0,0,0,0],"codonpos":[2,2,2,2,2,2,2],"pos":[13687,7190,16255,14614,7315,7382,14614],"ref":"A","refcodon":["GCC","GCC","GCC","GCC","GCC","GCC","GCC"]},"alphamissense":{"pred":"P","rankscore":0.7019,"score":0.632},"alt":"T","altai_neandertal":["G","G"],"ancestral_allele":"G","appris":["principal3","alternative2","alternative2","alternative2"],"bayesdel":{"add_af":{"pred":"T","rankscore":0.55434,"score":0.0278339},"no_af":{"pred":"T","rankscore":0.54855,"score":-0.197795}},"bstatistic":{"converted_rankscore":0.81939,"score":413.0},"cadd":{"phred":23.0,"raw_rankscore":0.50741,"raw_score":3.594783},"chagyrskaya_neandertal":["G","G"],"chrom":"2","clinpred":{"pred":"D","rankscore":0.37649,"score":0.630747258663177},"dann":{"rankscore":0.28445,"score":0.9601152901737872},"denisova":["G","G"],"eigen":{"phred_coding":7.376329,"raw_coding":0.71788365362636,"raw_coding_rankscore":0.80805},"eigen-pc":{"phred_coding":8.939238,"raw_coding":0.755844764934095,"raw_coding_rankscore":0.86592},"ensembl":{"geneid":["ENSG00000155657","ENSG00000155657","ENSG00000155657","ENSG00000155657","ENSG00000155657","ENSG00000155657","ENSG00000155657"],"proteinid":["ENSP00000343764","ENSP00000434586","ENSP00000467141","ENSP00000465570","ENSP00000352154","ENSP00000340554","ENSP00000483597"],"transcriptid":["ENST00000342992","ENST00000460472","ENST00000589042","ENST00000591111","ENST00000359218","ENST00000342175","ENST00000615779"]},"esm1b":{"pred":["D","D","D","D","D"],"rankscore":0.63858,"score":[-8.187,-8.06,-8.365,-8.414,-8.365]},"fathmm":{"converted_rankscore":0.66113,"pred":["T","T","T","T","T","T"],"score":[-0.2,0.02,-0.18,-0.2,-0.02,-0.0]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"D","coding_rankscore":0.93605,"coding_score":0.99261},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.95779,"coding_score":0.94734},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.7944,"score":0.708844},"h1-hesc":{"confidence_value":0,"rankscore":0.34648,"score":0.602189},"huvec":{"confidence_value":0,"rankscore":0.65232,"score":0.668105},"integrated":{"confidence_value":0,"rankscore":0.46895,"score":0.6512}},"gencode_basic":["Y","Y","Y","Y","Y","Y","Y"],"genename":["TTN","TTN","TTN","TTN","TTN","TTN","TTN"],"genocanyon":{"rankscore":0.74766,"score":0.999999999999361},"gerp++":{"nr":5.63,"rs":5.63,"rs_rankscore":0.86108},"hg18":{"end":179187722,"start":179187722},"hg19":{"end":179479477,"start":179479477},"hg38":{"end":178614750,"start":178614750},"hgvsc":["c.21944C>A","c.41060C>A","c.21569C>A","c.43841C>A","c.22145C>A","c.48764C>A"],"hgvsp":["p.A13687D","p.Ala7315Asp","p.Ala16255Asp","p.A7190D","p.A7315D","p.A14614D","p.Ala14614Asp","p.Ala7382Asp","p.A7382D","p.Ala13687Asp","p.Ala7190Asp","p.A16255D"],"interpro":{"domain":["Fibronectin type III","Fibronectin type III","Fibronectin type III","Fibronectin type III"]},"list-s2":{"pred":["D","D","D","D","D","D"],"rankscore":0.694,"score":[0.914109,0.882012,0.913009,0.871813,0.882012,0.89721]},"m-cap":{"pred":"D","rankscore":0.59459,"score":0.040587},"metalr":{"pred":"T","rankscore":0.69264,"score":0.3239},"metarnn":{"pred":["T","T","T","T","T","T","T"],"rankscore":0.55102,"score":[0.3941119,0.3941119,0.3941119,0.3941119,0.3941119,0.3941119,0.39411193]},"metasvm":{"pred":"T","rankscore":0.71579,"score":-0.4141},"mpc":{"rankscore":0.37514,"score":0.358050489924},"mutationassessor":{"pred":["L","L"],"rankscore":0.50856,"score":[1.905,1.905]},"mutationtaster":{"aae":["A13687D","A7190D","A16255D","A14614D","A7382D","A7315D"],"converted_rankscore":0.51612,"model":["simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["D","D","D","D","D","D"],"score":[0.999938,0.999938,0.999938,0.999898,0.999898,0.999938]},"mutformer":{"rankscore":0.63158,"score":0.07040248},"mutpred":{"aa_change":["A14614D","A14614D"],"accession":["Q8WZ42","Q8WZ42"],"pred":[{"mechanism":"Gain of disorder","p_val":0.0371},{"mechanism":"Gain of disorder","p_val":0.0371}],"rankscore":0.40624,"score":[0.386,0.386]},"mvp":{"rankscore":0.70395,"score":[0.706506091604,0.706506091604,0.706506091604,0.706506091604,0.706506091604,0.706506091604,0.706506091604]},"phactboost":{"rankscore":0.4589,"score":[0.132398118602833,0.132398118602833]},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.97212,"score":1.0},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.74183,"score":6.642},"17way_primate":{"rankscore":0.7674,"score":0.676}},"polyphen2":{"hdiv":{"pred":["D","D"],"rankscore":0.59675,"score":[0.981,0.981]},"hvar":{"pred":["P","P"],"rankscore":0.53781,"score":[0.69,0.69]}},"primateai":{"pred":"T","rankscore":0.47215,"score":0.559621930122},"provean":{"converted_rankscore":0.67824,"pred":["D","D","D","D"],"score":[-3.45,-3.47,-3.47,-3.47]},"ref":"G","reliability_index":9,"revel":{"rankscore":0.65816,"score":[0.336,0.336,0.336,0.336]},"sift":{"converted_rankscore":0.41096,"pred":["D","T","T","T"],"score":[0.044,0.055,0.098,0.087]},"siphy_29way":{"logodds_rankscore":0.9758,"logodds_score":20.0401,"pi":{"a":0.0,"c":0.0,"g":1.0,"t":0.0}},"tsl":[5,5,5,5,5,5,5],"uniprot":[{"acc":"Q8WZ42-11","entry":"TITIN_HUMAN"},{"acc":"Q8WZ42-3","entry":"TITIN_HUMAN"},{"acc":"A0A0A0MTS7","entry":"A0A0A0MTS7_HUMAN"},{"acc":"Q8WZ42","entry":"TITIN_HUMAN"},{"acc":"Q8WZ42-10","entry":"TITIN_HUMAN"},{"acc":"A0A0A0MRA3","entry":"A0A0A0MRA3_HUMAN"},{"acc":"Q8WZ42","entry":"TITIN_HUMAN"}],"vep_canonical":"YES","vest4":{"rankscore":0.88466,"score":[0.644,0.875,0.539,0.528,0.875,0.886,0.525]},"vindijia_neandertal":["G","G"]},"hg38":{"end":178614750,"start":178614750},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"109222","position":"48989"},"cds":{"length":"107976","position":"48764"},"effect":"missense_variant","feature_id":"NM_001267550.2","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.48764C>A","hgvs_p":"p.Ala16255Asp","protein":{"length":"35991","position":"16255"},"putative_impact":"MODERATE","rank":"261","total":"363","transcript_biotype":"protein_coding"},{"cdna":{"length":"104299","position":"44066"},"cds":{"length":"103053","position":"43841"},"effect":"missense_variant","feature_id":"NM_001256850.1","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.43841C>A","hgvs_p":"p.Ala14614Asp","protein":{"length":"34350","position":"14614"},"putative_impact":"MODERATE","rank":"211","total":"313","transcript_biotype":"protein_coding"},{"cdna":{"length":"82027","position":"21794"},"cds":{"length":"80781","position":"21569"},"effect":"missense_variant","feature_id":"NM_003319.4","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.21569C>A","hgvs_p":"p.Ala7190Asp","protein":{"length":"26926","position":"7190"},"putative_impact":"MODERATE","rank":"89","total":"191","transcript_biotype":"protein_coding"},{"cdna":{"length":"101518","position":"41285"},"cds":{"length":"100272","position":"41060"},"effect":"missense_variant","feature_id":"NM_133378.4","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.41060C>A","hgvs_p":"p.Ala13687Asp","protein":{"length":"33423","position":"13687"},"putative_impact":"MODERATE","rank":"210","total":"312","transcript_biotype":"protein_coding"},{"cdna":{"length":"82402","position":"22169"},"cds":{"length":"81156","position":"21944"},"effect":"missense_variant","feature_id":"NM_133432.3","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.21944C>A","hgvs_p":"p.Ala7315Asp","protein":{"length":"27051","position":"7315"},"putative_impact":"MODERATE","rank":"90","total":"192","transcript_biotype":"protein_coding"},{"cdna":{"length":"82603","position":"22370"},"cds":{"length":"81357","position":"22145"},"effect":"missense_variant","feature_id":"NM_133437.4","feature_type":"transcript","gene_id":"TTN","genename":"TTN","hgvs_c":"c.22145C>A","hgvs_p":"p.Ala7382Asp","protein":{"length":"27118","position":"7382"},"putative_impact":"MODERATE","rank":"90","total":"192","transcript_biotype":"protein_coding"},{"effect":"non_coding_transcript_exon_variant","feature_id":"NR_038271.1","feature_type":"transcript","gene_id":"TTN-AS1","genename":"TTN-AS1","hgvs_c":"n.1498G>T","putative_impact":"MODIFIER","rank":"5","total":"7","transcript_biotype":"pseudogene"}]},"vcf":{"alt":"T","position":"178614750","ref":"G"}}