{"_id":"chr16:g.16016503A>C","_version":1,"chrom":"16","clingen":{"caid":"CA394881987"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"P","codon_degeneracy":0,"codonpos":2,"pos":166,"ref":"Q","refcodon":"CAG"},"alphamissense":{"pred":"B","rankscore":0.00919,"score":0.0599},"alt":"C","altai_neandertal":["A","A"],"ancestral_allele":"a","appris":"principal2","bayesdel":{"add_af":{"pred":"T","rankscore":0.31924,"score":-0.127358},"no_af":{"pred":"T","rankscore":0.30994,"score":-0.420718}},"bstatistic":{"converted_rankscore":0.154,"score":934.0},"cadd":{"phred":0.813,"raw_rankscore":0.03818,"raw_score":-0.070925},"cds_strand":"+","chagyrskaya_neandertal":["A","A"],"chrom":"16","clinpred":{"pred":"T","rankscore":0.11074,"score":0.0888051837682724},"dann":{"rankscore":0.01669,"score":0.30479926934225565},"denisova":["A","A"],"deogen2":{"pred":"T","rankscore":0.27729,"score":0.047456},"eigen":{"phred_coding":0.2780286,"raw_coding":-1.13316567286916,"raw_coding_rankscore":0.06062},"eigen-pc":{"phred_coding":0.3058064,"raw_coding":-1.17333602971464,"raw_coding_rankscore":0.06358},"ensembl":{"geneid":"ENSG00000103222","proteinid":"ENSP00000382342","transcriptid":"ENST00000399410"},"esm1b":{"pred":"T","rankscore":0.04501,"score":-2.29},"fathmm":{"converted_rankscore":0.54149,"pred":"T","score":0.58},"fathmm-mkl":{"coding_group":"AEFDBI","coding_pred":"N","coding_rankscore":0.15827,"coding_score":0.10276},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.2439,"coding_score":0.126798},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.74545,"score":0.702456},"h1-hesc":{"confidence_value":0,"rankscore":0.65105,"score":0.698795},"huvec":{"confidence_value":0,"rankscore":0.83352,"score":0.714379},"integrated":{"confidence_value":0,"rankscore":0.8544,"score":0.722319}},"gencode_basic":"Y","genename":"ABCC1","genocanyon":{"rankscore":0.30624,"score":0.98384381832429},"gerp":{"91_mammals":{"rankscore":0.18982,"score":-0.398}},"gerp++":{"nr":4.43,"rs":0.786,"rs_rankscore":0.17734},"gmvp":{"rankscore":0.57715,"score":0.5778650506376085},"hg18":{"end":16017861,"start":16017861},"hg19":{"end":16110360,"start":16110360},"hg38":{"end":16016503,"start":16016503},"hgvsc":"c.497A>C","hgvsp":["p.Gln166Pro","p.Q166P"],"list-s2":{"pred":"T","rankscore":0.01308,"score":0.152785},"lrt":{"converted_rankscore":0.00831,"omega":905.512,"pred":"U","score":0.001827},"m-cap":{"pred":"D","rankscore":0.66003,"score":0.05482},"metalr":{"pred":"T","rankscore":0.41993,"score":0.1204},"metarnn":{"pred":"T","rankscore":0.21392,"score":0.11381078},"metasvm":{"pred":"T","rankscore":0.20681,"score":-1.0293},"mpc":{"rankscore":0.43818,"score":0.437767111278},"mutationassessor":{"pred":"L","rankscore":0.24501,"score":0.975},"mutationtaster":{"aae":["Q166P","Q166P","Q166P","Q166P","Q166P","Q166P"],"converted_rankscore":0.08975,"model":["simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["N","N","N","N","N","N"],"score":[1.0,1.0,1.0,1.0,1.0,1.0]},"mutformer":{"rankscore":0.3049,"score":0.00391013},"mutpred":{"aa_change":"Q166P","accession":"P33527","pred":{"mechanism":"Loss of stability","p_val":0.0523},"rankscore":0.61,"score":0.512},"mvp":{"rankscore":0.3144,"score":0.318252033908},"phactboost":{"rankscore":0.1975,"score":0.00570336173973687},"phastcons":{"100way_vertebrate":{"rankscore":0.06391,"score":0.0},"17way_primate":{"rankscore":0.02609,"score":0.001},"470way_mammalian":{"rankscore":0.08366,"score":0.0}},"phylop":{"100way_vertebrate":{"rankscore":0.1614,"score":0.153},"17way_primate":{"rankscore":0.04107,"score":-0.693},"470way_mammalian":{"rankscore":0.10719,"score":-0.226}},"polyphen2":{"hdiv":{"pred":"B","rankscore":0.25247,"score":0.091},"hvar":{"pred":"B","rankscore":0.20255,"score":0.024}},"primateai":{"pred":"T","rankscore":0.01099,"score":0.216130018234},"provean":{"converted_rankscore":0.2577,"pred":"N","score":-0.97},"ref":"A","reliability_index":10,"revel":{"rankscore":0.29647,"score":0.104},"sift":{"converted_rankscore":0.14017,"pred":"T","score":0.31},"sift4g":{"converted_rankscore":0.2068,"pred":"T","score":0.295},"siphy_29way":{"logodds_rankscore":0.31499,"logodds_score":8.3572,"pi":{"a":0.759,"c":0.0,"g":0.241,"t":0.0}},"tsl":1,"uniprot":{"acc":"P33527","entry":"MRP1_HUMAN"},"varity":{"er":{"rankscore":0.15061,"score":0.07072285},"er_loo":{"rankscore":0.15061,"score":0.07072285},"r":{"rankscore":0.47555,"score":0.24591777},"r_loo":{"rankscore":0.47555,"score":0.24591777}},"vep_canonical":"YES","vest4":{"rankscore":0.42541,"score":0.384},"vindijia_neandertal":["A","A"]},"hg38":{"end":16016503,"start":16016503},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":{"cdna":{"length":"6563","position":"672"},"cds":{"length":"4596","position":"497"},"effect":"missense_variant","feature_id":"NM_004996.3","feature_type":"transcript","gene_id":"ABCC1","genename":"ABCC1","hgvs_c":"c.497A>C","hgvs_p":"p.Gln166Pro","protein":{"length":"1531","position":"166"},"putative_impact":"MODERATE","rank":"5","total":"31","transcript_biotype":"protein_coding"}},"vcf":{"alt":"C","position":"16016503","ref":"A"}}