{"_id":"chr8:g.18258222T>A","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"A","anc":"T","annotype":"CodingTranscript","bstatistic":934,"chmm":{"bivflnk":0.0,"enh":0.0,"enhbiv":0.0,"het":0.0,"quies":0.78,"reprpc":0.031,"reprpcwk":0.157,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.008,"txflnk":0.0,"txwk":0.024,"znfrpts":0.0},"chrom":8,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.01,"dna":{"helt":-3.14,"mgw":-0.38,"prot":3.3,"roll":-2.13},"encode":{"exp":0.53,"h3k27ac":2.0,"h3k4me1":2.0,"h3k4me3":4.0,"nucleo":0.6},"exon":"2/2","fitcons":0.577471,"gc":0.39,"gene":{"ccds_id":"CCDS6008.1","cds":{"cdna_pos":816,"cds_pos":709,"rel_cdna_pos":0.62,"rel_cds_pos":0.81},"feature_id":"ENST00000286479","gene_id":"ENSG00000156006","genename":"NAT2","prot":{"domain":"ndomain","protpos":237,"rel_prot_pos":0.82}},"gerp":{"n":2.86,"rs":797.3,"rs_pval":3.51461e-63,"s":0.322},"grantham":21,"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":282,"min_dist_tss":9425,"mutindex":-4,"naa":"I","oaa":"F","phast_cons":{"mammalian":0.202,"primate":0.546,"vertebrate":0.629},"phred":13.85,"phylop":{"mammalian":0.053,"primate":0.354,"vertebrate":0.093},"polyphen":{"cat":"benign","val":0.248},"pos":18258222,"rawscore":1.599496,"ref":"T","segway":"F0","sift":{"cat":"tolerated","val":0.21},"type":"SNV"},"chrom":"8","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"I","codon_degeneracy":[0,0],"codonpos":[1,1],"pos":[237,107],"ref":"F","refcodon":["TTC","TTC"]},"alphamissense":{"pred":["B","B"],"rankscore":0.3714,"score":[0.1364,0.1688]},"alt":"A","altai_neandertal":["T","T"],"ancestral_allele":"T","appris":"principal1","bayesdel":{"add_af":{"pred":"T","rankscore":0.22224,"score":-0.190232},"no_af":{"pred":"T","rankscore":0.2121,"score":-0.511031}},"bstatistic":{"converted_rankscore":0.47767,"score":779.0},"cds_strand":["+","+"],"chagyrskaya_neandertal":["T","T"],"chrom":"8","clinpred":{"pred":"T","rankscore":0.2958,"score":0.417010247707367},"dann":{"rankscore":0.23265,"score":0.934727774815074},"denisova":["T","T"],"deogen2":{"pred":"T","rankscore":0.15174,"score":0.018933},"eigen":{"phred_coding":1.017276,"raw_coding":-0.583783283261792,"raw_coding_rankscore":0.19438},"eigen-pc":{"phred_coding":0.9983102,"raw_coding":-0.632171893285047,"raw_coding_rankscore":0.18669},"ensembl":{"geneid":["ENSG00000156006","ENSG00000156006"],"proteinid":["ENSP00000286479","ENSP00000428416"],"transcriptid":["ENST00000286479","ENST00000520116"]},"fathmm":{"converted_rankscore":0.01779,"pred":["T","T"],"score":[4.65,4.65]},"fathmm-mkl":{"coding_group":"AEFBI","coding_pred":"N","coding_rankscore":0.26974,"coding_score":0.42873},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.44362,"coding_score":0.350026},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.26702,"score":0.573888},"h1-hesc":{"confidence_value":0,"rankscore":0.34648,"score":0.602189},"huvec":{"confidence_value":0,"rankscore":0.1498,"score":0.542086},"integrated":{"confidence_value":0,"rankscore":0.28877,"score":0.554377}},"gencode_basic":["Y","Y"],"genename":["NAT2","NAT2"],"genocanyon":{"rankscore":0.02871,"score":0.0000117039716984667},"gerp":{"91_mammals":{"rankscore":0.16219,"score":-0.903}},"gerp++":{"nr":2.86,"rs":0.322,"rs_rankscore":0.15131},"gmvp":{"rankscore":0.67131,"score":0.6719394901847365},"hg18":{"end":18302502,"start":18302502},"hg19":{"end":18258222,"start":18258222},"hg38":{"end":18400712,"start":18400712},"hgvsc":["c.709T>A","c.319T>A"],"hgvsp":["p.F107I","p.Phe237Ile","p.F237I","p.Phe107Ile"],"list-s2":{"pred":["T","T"],"rankscore":0.41194,"score":[0.775622,0.778122]},"lrt":{"converted_rankscore":0.29115,"omega":0.374045,"pred":"N","score":0.012604},"m-cap":{"pred":"T","rankscore":0.04043,"score":0.002158},"metalr":{"pred":"T","rankscore":0.02206,"score":0.0065},"metarnn":{"pred":["T","T"],"rankscore":0.36343,"score":[0.2022846,0.2022846]},"metasvm":{"pred":"T","rankscore":0.31643,"score":-0.9937},"mpc":{"rankscore":0.005,"score":0.00571937350105},"mutationtaster":{"aae":["F237I","F107I"],"converted_rankscore":0.29763,"model":["simple_aae","simple_aae"],"pred":["N","N"],"score":[0.999984,0.738059]},"mutformer":{"rankscore":0.2558,"score":0.00253047},"mutpred":{"aa_change":"F237I","accession":"ENST00000286479","pred":{"mechanism":"Loss of catalytic residue at F237","p_val":0.0304},"rankscore":0.64585,"score":0.536},"mvp":{"rankscore":0.10061,"score":[0.104622674875,0.104622674875]},"phastcons":{"100way_vertebrate":{"rankscore":0.3399,"score":0.966},"17way_primate":{"rankscore":0.0968,"score":0.012},"470way_mammalian":{"rankscore":0.08366,"score":0.0}},"phylop":{"100way_vertebrate":{"rankscore":0.386,"score":1.813},"17way_primate":{"rankscore":0.07141,"score":-0.251},"470way_mammalian":{"rankscore":0.10844,"score":-0.212}},"polyphen2":{"hdiv":{"pred":"B","rankscore":0.28729,"score":0.171},"hvar":{"pred":"B","rankscore":0.35748,"score":0.178}},"primateai":{"pred":"T","rankscore":0.10645,"score":0.30163782835},"provean":{"converted_rankscore":0.52938,"pred":["N","N"],"score":[-2.41,-2.25]},"ref":"T","reliability_index":10,"revel":{"rankscore":0.22779,"score":[0.078,0.078]},"sift":{"converted_rankscore":0.43393,"pred":["T","D"],"score":[0.097,0.036]},"sift4g":{"converted_rankscore":0.31026,"pred":["T","T"],"score":[0.381,0.164]},"siphy_29way":{"logodds_rankscore":0.0356,"logodds_score":2.1474,"pi":{"a":0.2702,"c":0.1527,"g":0.0,"t":0.5772}},"tsl":[1,3],"uniprot":[{"acc":"A4Z6T7","entry":"A4Z6T7_HUMAN"},{"acc":"E7EWF9","entry":"E7EWF9_HUMAN"}],"vep_canonical":"YES","vest4":{"rankscore":0.37301,"score":[0.302,0.332]},"vindijia_neandertal":["T","T"]},"hg19":{"end":18258222,"start":18258222},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":{"cdna":{"length":"1317","position":"816"},"cds":{"length":"873","position":"709"},"effect":"missense_variant","feature_id":"NM_000015.2","feature_type":"transcript","gene_id":"NAT2","genename":"NAT2","hgvs_c":"c.709T>A","hgvs_p":"p.Phe237Ile","protein":{"length":"290","position":"237"},"putative_impact":"MODERATE","rank":"2","total":"2","transcript_biotype":"protein_coding"}},"vcf":{"alt":"A","position":"18258222","ref":"T"}}