{"_id":"chr11:g.17408860A>C","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"C","anc":"A","annotype":"CodingTranscript","bstatistic":574,"chmm":{"bivflnk":0.0,"enh":0.024,"enhbiv":0.008,"het":0.016,"quies":0.205,"reprpc":0.055,"reprpcwk":0.323,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.039,"txflnk":0.024,"txwk":0.22,"znfrpts":0.031},"chrom":11,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.09,"dna":{"helt":-1.16,"mgw":0.67,"prot":3.53,"roll":6.8},"encode":{"exp":59.72,"h3k27ac":1.08,"h3k4me1":2.0,"h3k4me3":4.52,"nucleo":0.4},"exon":"1/1","fitcons":0.527649,"gc":0.6,"gene":{"ccds_id":"CCDS31436.1","cds":{"cdna_pos":1347,"cds_pos":779,"rel_cdna_pos":0.48,"rel_cds_pos":0.66},"feature_id":"ENST00000339994","gene_id":"ENSG00000187486","genename":"KCNJ11","prot":{"domain":"ndomain","protpos":260,"rel_prot_pos":0.67}},"gerp":{"n":5.43,"rs":4551.6,"rs_pval":0,"s":4.31},"grantham":109,"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":58,"min_dist_tss":563,"mutindex":-28,"naa":"G","oaa":"V","phast_cons":{"mammalian":1.0,"primate":0.959,"vertebrate":1.0},"phred":12.46,"phylop":{"mammalian":0.903,"primate":0.455,"vertebrate":1.101},"polyphen":{"cat":"benign","val":0.304},"pos":17408860,"rawscore":1.335928,"ref":"A","segway":"R5","sift":{"cat":"tolerated","val":0.12},"type":"SNV"},"chrom":"11","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"G","codon_degeneracy":[0,0],"codonpos":[2,2],"pos":[260,173],"ref":"V","refcodon":["GTC","GTC"]},"alphamissense":{"pred":["B","A"],"rankscore":0.58582,"score":[0.2768,0.3826]},"alt":"C","altai_neandertal":["A","A"],"ancestral_allele":"A","appris":"principal1","bayesdel":{"add_af":{"pred":"D","rankscore":0.83925,"score":0.312419},"no_af":{"pred":"D","rankscore":0.83715,"score":0.210992}},"bstatistic":{"converted_rankscore":0.68897,"score":590.0},"chagyrskaya_neandertal":["A","A"],"chrom":"11","clinpred":{"pred":"D","rankscore":0.61633,"score":0.942287802696228},"dann":{"rankscore":0.63263,"score":0.9941044360609782},"denisova":["A","A"],"eigen":{"phred_coding":3.459232,"raw_coding":0.23448315472429,"raw_coding_rankscore":0.52875},"eigen-pc":{"phred_coding":3.478848,"raw_coding":0.257556918283082,"raw_coding_rankscore":0.5308},"ensembl":{"geneid":["ENSG00000187486","ENSG00000187486"],"proteinid":["ENSP00000345708","ENSP00000434755"],"transcriptid":["ENST00000339994","ENST00000528731"]},"fathmm":{"converted_rankscore":0.94764,"pred":["D","D"],"score":[-3.53,-3.53]},"fathmm-mkl":{"coding_group":"AEFGBCI","coding_pred":"D","coding_rankscore":0.45896,"coding_score":0.86585},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.64045,"coding_score":0.674883},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.40923,"score":0.588066},"h1-hesc":{"confidence_value":0,"rankscore":0.80598,"score":0.723109},"huvec":{"confidence_value":0,"rankscore":0.41899,"score":0.613276},"integrated":{"confidence_value":0,"rankscore":0.57023,"score":0.695654}},"gencode_basic":["Y","Y"],"genename":["KCNJ11","KCNJ11"],"genocanyon":{"rankscore":0.74766,"score":0.999994312416699},"gerp++":{"nr":5.43,"rs":4.31,"rs_rankscore":0.50718},"gmvp":{"rankscore":0.91218,"score":0.9124467374257303},"hg18":{"end":17365436,"start":17365436},"hg19":{"end":17408860,"start":17408860},"hg38":{"end":17387313,"start":17387313},"hgvsc":["c.518T>G","c.779T>G"],"hgvsp":["p.V260G","p.V173G","p.Val173Gly","p.Val260Gly"],"list-s2":{"pred":"T","rankscore":0.39899,"score":0.769523},"lrt":{"converted_rankscore":0.16808,"omega":0.617417,"pred":"N","score":0.192531},"m-cap":{"pred":"D","rankscore":0.84588,"score":0.167538},"metalr":{"pred":"D","rankscore":0.94419,"score":0.8334},"metarnn":{"pred":["D","D"],"rankscore":0.7448,"score":[0.7337966,0.7337966]},"metasvm":{"pred":"D","rankscore":0.92508,"score":0.6473},"mpc":{"rankscore":0.77779,"score":1.10281248813},"mutationtaster":{"aae":["V260G","V173G"],"converted_rankscore":0.54805,"model":["simple_aae","simple_aae"],"pred":["D","D"],"score":[0.999982,0.999982]},"mutformer":{"rankscore":0.99415,"score":0.9994747},"mutpred":{"aa_change":"V260G","accession":"ENST00000339994","pred":{"mechanism":"Loss of stability","p_val":0.0086},"rankscore":0.69431,"score":0.571},"mvp":{"rankscore":0.98052,"score":[0.980740241278,0.980740241278]},"phastcons":{"100way_vertebrate":{"rankscore":0.31549,"score":0.905},"17way_primate":{"rankscore":0.43474,"score":0.898},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.5628,"score":3.936},"17way_primate":{"rankscore":0.94297,"score":0.756},"470way_mammalian":{"rankscore":0.57389,"score":7.056}},"primateai":{"pred":"T","rankscore":0.32151,"score":0.451514840126},"provean":{"converted_rankscore":0.47683,"pred":["N","N"],"score":[-1.86,-2.09]},"ref":"A","reliability_index":10,"revel":{"rankscore":0.9246,"score":[0.775,0.775]},"sift":{"converted_rankscore":0.38863,"pred":["T","T"],"score":[0.064,0.053]},"sift4g":{"converted_rankscore":0.3663,"pred":["T","T"],"score":[0.115,0.219]},"siphy_29way":{"logodds_rankscore":0.28053,"logodds_score":7.7495,"pi":{"a":0.7738,"c":0.0,"g":0.2262,"t":0.0}},"tsl":1,"vep_canonical":"YES","vest4":{"rankscore":0.52386,"score":[0.48,0.49]},"vindijia_neandertal":["A","A"]},"hg19":{"end":17408860,"start":17408860},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"3411","position":"1347"},"cds":{"length":"1173","position":"779"},"effect":"missense_variant","feature_id":"NM_000525.3","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.779T>G","hgvs_p":"p.Val260Gly","protein":{"length":"390","position":"260"},"putative_impact":"MODERATE","rank":"1","total":"1","transcript_biotype":"protein_coding"},{"cdna":{"length":"2756","position":"692"},"cds":{"length":"912","position":"518"},"effect":"missense_variant","feature_id":"NM_001166290.1","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.518T>G","hgvs_p":"p.Val173Gly","protein":{"length":"303","position":"173"},"putative_impact":"MODERATE","rank":"2","total":"2","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"C","position":"17408860","ref":"A"}}