{"_id":"chr8:g.37823311C>A","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"A","anc":"C","annotype":"CodingTranscript","bstatistic":757,"chmm":{"bivflnk":0.299,"enh":0.0,"enhbiv":0.157,"het":0.0,"quies":0.055,"reprpc":0.173,"reprpcwk":0.055,"tssa":0.008,"tssaflnk":0.024,"tssbiv":0.205,"tx":0.0,"txflnk":0.0,"txwk":0.0,"znfrpts":0.0},"chrom":8,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.21,"dna":{"helt":0.32,"mgw":-0.05,"prot":-5.23,"roll":-0.49},"encode":{"h3k27ac":3.0,"h3k4me1":17.32,"h3k4me3":21.76,"nucleo":0.2,"occ":2,"p_val":{"comb":8.25,"ctcf":3.46,"dnas":8.91,"faire":0.7,"mycp":0.0,"polii":1.4},"sig":{"ctcf":0.45,"dnase":0.28,"faire":0.01,"myc":0.05,"polii":0.03}},"exon":"1/2","fitcons":0.601731,"gc":0.64,"gene":{"ccds_id":"CCDS6099.1","cds":{"cdna_pos":1173,"cds_pos":677,"rel_cdna_pos":0.4,"rel_cds_pos":0.55},"feature_id":"ENST00000345060","gene_id":"ENSG00000188778","genename":"ADRB3","prot":{"domain":"tmhmm","protpos":226,"rel_prot_pos":0.55}},"gerp":{"n":4.31,"rs":2555.1,"rs_pval":6.99973e-252,"s":4.31},"grantham":102,"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":1831,"min_dist_tss":49,"mutindex":85,"naa":"L","oaa":"R","phast_cons":{"mammalian":0.961,"primate":0.913,"vertebrate":0.998},"phred":34,"phylop":{"mammalian":2.399,"primate":0.307,"vertebrate":3.902},"polyphen":{"cat":"probably_damaging","val":1},"pos":37823311,"rawscore":7.431223,"ref":"C","segway":"TF0","sift":{"cat":"deleterious","val":0},"tf":{"bs":5,"bs_peaks":11,"bs_peaks_max":184.7558},"type":"SNV"},"chrom":"8","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"L","codon_degeneracy":[0,0],"codonpos":[2,2],"pos":[54,226],"ref":"R","refcodon":["CGG","CGG"]},"alphamissense":{"pred":["A","B"],"rankscore":0.62197,"score":[0.4498,0.2471]},"alt":"A","altai_neandertal":["C","C"],"ancestral_allele":"C","appris":["principal1","principal1"],"bayesdel":{"add_af":{"pred":"D","rankscore":0.68054,"score":0.137165},"no_af":{"pred":"D","rankscore":0.67651,"score":-0.0407488}},"bstatistic":{"converted_rankscore":0.68969,"score":589.0},"chagyrskaya_neandertal":["C","C"],"chrom":"8","clinpred":{"pred":"D","rankscore":0.85531,"score":0.994316160678864},"dann":{"rankscore":0.89531,"score":0.9981184802356275},"denisova":["C","C"],"deogen2":{"pred":"T","rankscore":0.7222,"score":0.35515},"eigen":{"phred_coding":5.877657,"raw_coding":0.595472461805889,"raw_coding_rankscore":0.72892},"eigen-pc":{"phred_coding":5.334924,"raw_coding":0.518841668545664,"raw_coding_rankscore":0.6926},"ensembl":{"geneid":["ENSG00000285880","ENSG00000188778"],"proteinid":["ENSP00000497740","ENSP00000343782"],"transcriptid":["ENST00000647937","ENST00000345060"]},"esm1b":{"pred":"D","rankscore":0.85021,"score":-12.035},"fathmm":{"converted_rankscore":0.35405,"pred":"T","score":1.31},"fathmm-mkl":{"coding_group":"AEFDBHCIJ","coding_pred":"D","coding_rankscore":0.56953,"coding_score":0.92952},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.69874,"coding_score":0.76085},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.19063,"score":0.563428},"h1-hesc":{"confidence_value":2,"rankscore":0.06126,"score":0.378051},"huvec":{"confidence_value":0,"rankscore":0.18163,"score":0.554799},"integrated":{"confidence_value":0,"rankscore":0.39778,"score":0.623204}},"gencode_basic":["Y","Y"],"genename":["AC144573.1","ADRB3"],"genocanyon":{"rankscore":0.74766,"score":0.999999999803932},"gerp":{"91_mammals":{"rankscore":0.80477,"score":4.24}},"gerp++":{"nr":4.31,"rs":4.31,"rs_rankscore":0.50718},"gmvp":{"rankscore":0.72886,"score":0.7294130953118358},"hg18":{"end":37942468,"start":37942468},"hg19":{"end":37823311,"start":37823311},"hg38":{"end":37965793,"start":37965793},"hgvsc":["c.161G>T","c.677G>T"],"hgvsp":["p.R226L","p.Arg54Leu","p.Arg226Leu"],"interpro":{"domain":"GPCR, rhodopsin-like, 7TM"},"list-s2":{"pred":["D","D"],"rankscore":0.76011,"score":[0.893711,0.935906]},"lrt":{"converted_rankscore":0.55875,"omega":0.068091,"pred":"D","score":0.000022},"m-cap":{"pred":"D","rankscore":0.89415,"score":0.258631},"metalr":{"pred":"T","rankscore":0.60714,"score":0.2394},"metarnn":{"pred":["D","D"],"rankscore":0.9276,"score":[0.9342644,0.9342644]},"metasvm":{"pred":"T","rankscore":0.67174,"score":-0.5397},"mpc":{"rankscore":0.95441,"score":2.1666736912},"mutationassessor":{"pred":"M","rankscore":0.69568,"score":2.405},"mutationtaster":{"aae":"R226L","converted_rankscore":0.49512,"model":"simple_aae","pred":"D","score":0.999821},"mutformer":{"rankscore":0.93353,"score":0.9490924},"mutpred":{"aa_change":"R226L","accession":"P13945","pred":{"mechanism":"Loss of MoRF binding","p_val":0.0048},"rankscore":0.94479,"score":0.838},"mvp":{"rankscore":0.83895,"score":0.840484379415},"phactboost":{"rankscore":0.37465,"score":0.0518287758174274},"phastcons":{"100way_vertebrate":{"rankscore":0.30794,"score":0.87},"17way_primate":{"rankscore":0.38357,"score":0.814},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.57305,"score":4.075},"17way_primate":{"rankscore":0.21855,"score":0.469},"470way_mammalian":{"rankscore":0.44291,"score":4.674}},"polyphen2":{"hdiv":{"pred":"D","rankscore":0.90584,"score":1.0},"hvar":{"pred":"D","rankscore":0.84481,"score":0.996}},"primateai":{"pred":"D","rankscore":0.85027,"score":0.819996476173},"provean":{"converted_rankscore":0.91998,"pred":"D","score":-6.59},"ref":"C","reliability_index":10,"revel":{"rankscore":0.7278,"score":0.418},"sift":{"converted_rankscore":0.7849,"pred":"D","score":0.001},"sift4g":{"converted_rankscore":0.76473,"pred":"D","score":0.003},"siphy_29way":{"logodds_rankscore":0.86019,"logodds_score":16.9157,"pi":{"a":0.0,"c":1.0,"g":0.0,"t":0.0}},"tsl":1,"uniprot":{"acc":"P13945","entry":"ADRB3_HUMAN"},"varity":{"er":{"rankscore":0.85282,"score":0.75099033},"er_loo":{"rankscore":0.85283,"score":0.75099033},"r":{"rankscore":0.79516,"score":0.7263131},"r_loo":{"rankscore":0.79517,"score":0.7263131}},"vep_canonical":["YES","YES"],"vest4":{"rankscore":0.75009,"score":0.751},"vindijia_neandertal":["C","C"]},"hg19":{"end":37823311,"start":37823311},"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"2646","position":"874"},"cds":{"length":"1227","position":"677"},"effect":"missense_variant","feature_id":"NM_000025.2","feature_type":"transcript","gene_id":"ADRB3","genename":"ADRB3","hgvs_c":"c.677G>T","hgvs_p":"p.Arg226Leu","protein":{"length":"408","position":"226"},"putative_impact":"MODERATE","rank":"1","total":"2","transcript_biotype":"protein_coding"},{"effect":"sequence_feature","feature_id":"NM_000025.2","feature_type":"topological-domain:Cytoplasmic","gene_id":"ADRB3","genename":"ADRB3","hgvs_c":"c.677G>T","putative_impact":"LOW","rank":"1","total":"2","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"A","position":"37823311","ref":"C"}}