{"_id":"chr11:g.17387315A>T","_version":1,"chrom":"11","clingen":{"caid":"CA379770825"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"Q","codon_degeneracy":[2,2],"codonpos":[3,3],"pos":[259,172],"ref":"H","refcodon":["CAT","CAT"]},"alphamissense":{"pred":["P","P"],"rankscore":0.93631,"score":[0.9842,0.9901]},"alt":"T","altai_neandertal":["A","A"],"ancestral_allele":"A","appris":"principal1","bayesdel":{"add_af":{"pred":"D","rankscore":0.94357,"score":0.502163},"no_af":{"pred":"D","rankscore":0.94278,"score":0.483546}},"bstatistic":{"converted_rankscore":0.68897,"score":590.0},"cadd":{"phred":9.448,"raw_rankscore":0.12937,"raw_score":0.919222},"chagyrskaya_neandertal":["A","A"],"chrom":"11","clinpred":{"pred":"D","rankscore":0.96819,"score":0.999284207820892},"dann":{"rankscore":0.36752,"score":0.9790207679686604},"denisova":["A","A"],"eigen":{"phred_coding":1.930263,"raw_coding":-0.181056742088918,"raw_coding_rankscore":0.33924},"eigen-pc":{"phred_coding":1.394646,"raw_coding":-0.387521183549863,"raw_coding_rankscore":0.25368},"ensembl":{"geneid":["ENSG00000187486","ENSG00000187486"],"proteinid":["ENSP00000345708","ENSP00000434755"],"transcriptid":["ENST00000339994","ENST00000528731"]},"fathmm":{"converted_rankscore":0.99651,"pred":["D","D"],"score":[-6.31,-6.31]},"fathmm-mkl":{"coding_group":"AEFGBCI","coding_pred":"D","coding_rankscore":0.28581,"coding_score":0.50084},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.59838,"coding_score":0.609024},"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":0.51787,"score":0.999987163925435},"gerp":{"91_mammals":{"rankscore":0.00561,"score":-8.68}},"gerp++":{"nr":5.43,"rs":-3.96,"rs_rankscore":0.03833},"gmvp":{"rankscore":0.97749,"score":0.977588123397172},"hg18":{"end":17365438,"start":17365438},"hg19":{"end":17408862,"start":17408862},"hg38":{"end":17387315,"start":17387315},"hgvsc":["c.777T>A","c.516T>A"],"hgvsp":["p.H172Q","p.His172Gln","p.His259Gln","p.H259Q"],"list-s2":{"pred":"D","rankscore":0.71672,"score":0.922108},"lrt":{"converted_rankscore":0.8433,"omega":0.0,"pred":"D","score":0.0},"m-cap":{"pred":"D","rankscore":0.99527,"score":0.934289},"metalr":{"pred":"D","rankscore":0.99581,"score":0.986},"metarnn":{"pred":["D","D"],"rankscore":0.99905,"score":[0.9938731,0.9938731]},"metasvm":{"pred":"D","rankscore":0.9937,"score":1.0932},"mpc":{"rankscore":0.89152,"score":1.62602313597},"mutationtaster":{"aae":["H259Q","H172Q"],"converted_rankscore":0.45078,"model":["simple_aae","simple_aae"],"pred":["D","D"],"score":[0.99855,0.99855]},"mutformer":{"rankscore":0.9978,"score":0.9998313},"mutpred":{"aa_change":"H259Q","accession":"ENST00000339994","pred":{"mechanism":"Gain of catalytic residue at H259","p_val":0.0135},"rankscore":0.99466,"score":0.953},"mvp":{"rankscore":0.99941,"score":[0.999418354355,0.999418354355]},"phastcons":{"100way_vertebrate":{"rankscore":0.27314,"score":0.546},"17way_primate":{"rankscore":0.39538,"score":0.838},"470way_mammalian":{"rankscore":0.08366,"score":0.0}},"phylop":{"100way_vertebrate":{"rankscore":0.14004,"score":0.05},"17way_primate":{"rankscore":0.00237,"score":-2.592},"470way_mammalian":{"rankscore":0.03569,"score":-2.594}},"primateai":{"pred":"T","rankscore":0.71843,"score":0.732306957245},"provean":{"converted_rankscore":0.94196,"pred":["D","D"],"score":[-7.13,-7.19]},"ref":"A","reliability_index":10,"revel":{"rankscore":0.97738,"score":[0.914,0.914]},"sift":{"converted_rankscore":0.91255,"pred":["D","D"],"score":[0.0,0.0]},"sift4g":{"converted_rankscore":0.92824,"pred":["D","D"],"score":[0.0,0.0]},"siphy_29way":{"logodds_rankscore":0.49401,"logodds_score":11.4515,"pi":{"a":0.437,"c":0.0,"g":0.563,"t":0.0}},"tsl":1,"vep_canonical":"YES","vest4":{"rankscore":0.99548,"score":[0.987,0.979]},"vindijia_neandertal":["A","A"]},"hg38":{"end":17387315,"start":17387315},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"3411","position":"1345"},"cds":{"length":"1173","position":"777"},"effect":"missense_variant","feature_id":"NM_000525.3","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.777T>A","hgvs_p":"p.His259Gln","protein":{"length":"390","position":"259"},"putative_impact":"MODERATE","rank":"1","total":"1","transcript_biotype":"protein_coding"},{"cdna":{"length":"2756","position":"690"},"cds":{"length":"912","position":"516"},"effect":"missense_variant","feature_id":"NM_001166290.1","feature_type":"transcript","gene_id":"KCNJ11","genename":"KCNJ11","hgvs_c":"c.516T>A","hgvs_p":"p.His172Gln","protein":{"length":"303","position":"172"},"putative_impact":"MODERATE","rank":"2","total":"2","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"17387315","ref":"A"}}