{"_id":"chr5:g.150541582G>T","_version":1,"chrom":"5","clingen":{"caid":"CA361768185"},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"Y","codon_degeneracy":[0,0],"codonpos":[1,1],"pos":[588,588],"ref":"D","refcodon":["GAC","GAC"]},"alphamissense":{"pred":["P","P"],"rankscore":0.92872,"score":[0.981,0.9875]},"alt":"T","altai_neandertal":["G","G"],"ancestral_allele":"G","appris":"principal1","bayesdel":{"add_af":{"pred":"D","rankscore":0.86142,"score":0.344611},"no_af":{"pred":"D","rankscore":0.8596,"score":0.257233}},"bstatistic":{"converted_rankscore":0.2731,"score":889.0},"cadd":{"phred":33.0,"raw_rankscore":0.93608,"raw_score":5.799485},"cds_strand":["+","+"],"chagyrskaya_neandertal":["G","G"],"chrom":"5","clinpred":{"pred":"D","rankscore":0.93751,"score":0.998294770717621},"dann":{"rankscore":0.45924,"score":0.9876818639228734},"denisova":["G","G"],"deogen2":{"pred":"D","rankscore":0.96068,"score":0.834103},"eigen":{"phred_coding":5.417687,"raw_coding":0.546378149269444,"raw_coding_rankscore":0.69861},"eigen-pc":{"phred_coding":4.540935,"raw_coding":0.42507697377705,"raw_coding_rankscore":0.63131},"ensembl":{"geneid":["ENSG00000070614","ENSG00000070614"],"proteinid":["ENSP00000428604","ENSP00000261797"],"transcriptid":["ENST00000523767","ENST00000261797"]},"esm1b":{"pred":"D","rankscore":0.8593,"score":-12.225},"eve":{"class10_pred":"U","class20_pred":"U","class25_pred":"U","class30_pred":"U","class40_pred":"U","class50_pred":"U","class60_pred":"U","class70_pred":"B","class75_pred":"B","class80_pred":"B","class90_pred":"B","rankscore":0.40035,"score":0.3028851197846048},"fathmm":{"converted_rankscore":0.55266,"pred":["T","T"],"score":[0.52,0.52]},"fathmm-mkl":{"coding_group":"AEFBCI","coding_pred":"D","coding_rankscore":0.71371,"coding_score":0.96867},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.92897,"coding_score":0.934911},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.74545,"score":0.702456},"h1-hesc":{"confidence_value":0,"rankscore":0.64325,"score":0.697927},"huvec":{"confidence_value":0,"rankscore":0.98432,"score":0.735409},"integrated":{"confidence_value":0,"rankscore":0.8544,"score":0.722319}},"gencode_basic":["Y","Y"],"genename":["NDST1","NDST1"],"genocanyon":{"rankscore":0.74766,"score":0.999999999747657},"gerp++":{"nr":5.02,"rs":4.15,"rs_rankscore":0.47978},"gmvp":{"rankscore":0.93732,"score":0.9375246449875514},"hg18":{"end":149901337,"start":149901337},"hg19":{"end":149921144,"start":149921144},"hg38":{"end":150541582,"start":150541582},"hgvsc":"c.1762G>T","hgvsp":["p.Asp588Tyr","p.D588Y"],"list-s2":{"pred":["D","D"],"rankscore":0.93682,"score":[0.981385,0.981385]},"lrt":{"converted_rankscore":0.8433,"omega":0.0,"pred":"D","score":0.0},"m-cap":{"pred":"D","rankscore":0.83586,"score":0.154807},"metalr":{"pred":"T","rankscore":0.74209,"score":0.3869},"metarnn":{"pred":["D","D"],"rankscore":0.81922,"score":[0.8274796,0.8274796]},"metasvm":{"pred":"T","rankscore":0.79618,"score":-0.1207},"mpc":{"rankscore":0.92524,"score":1.87144727163},"mutationassessor":{"pred":"M","rankscore":0.87757,"score":3.11},"mutationtaster":{"aae":["D588Y","D588Y"],"converted_rankscore":0.81001,"model":["simple_aae","simple_aae"],"pred":["D","D"],"score":[1.0,1.0]},"mutformer":{"rankscore":0.91813,"score":0.91523737},"mutpred":{"aa_change":["D588Y","D588Y"],"accession":["P52848","P52848"],"pred":[{"mechanism":"Loss of disorder","p_val":0.0126},{"mechanism":"Loss of disorder","p_val":0.0126}],"rankscore":0.462,"score":[0.42,0.42]},"mvp":{"rankscore":0.92319,"score":[0.923969209507,0.923969209507]},"phactboost":{"rankscore":0.99578,"score":0.999983344547028},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.85391,"score":0.998},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.9889,"score":9.94},"17way_primate":{"rankscore":0.7674,"score":0.676},"470way_mammalian":{"rankscore":0.99922,"score":11.931}},"polyphen2":{"hdiv":{"pred":["D","D"],"rankscore":0.90584,"score":[1.0,1.0]},"hvar":{"pred":["D","D"],"rankscore":0.84481,"score":[0.996,0.996]}},"primateai":{"pred":"D","rankscore":0.90371,"score":0.855030179024},"provean":{"converted_rankscore":0.96368,"pred":["D","D"],"score":[-7.82,-7.97]},"ref":"G","reliability_index":10,"revel":{"rankscore":0.78226,"score":[0.498,0.498]},"sift":{"converted_rankscore":0.91255,"pred":["D","D"],"score":[0.0,0.0]},"sift4g":{"converted_rankscore":0.83351,"pred":["D","D"],"score":[0.001,0.001]},"siphy_29way":{"logodds_rankscore":0.60012,"logodds_score":13.3454,"pi":{"a":0.0775,"c":0.0,"g":0.9225,"t":0.0}},"tsl":[2,1],"uniprot":[{"acc":"E7EVJ3","entry":"E7EVJ3_HUMAN"},{"acc":"P52848","entry":"NDST1_HUMAN"}],"varity":{"er":{"rankscore":0.93484,"score":0.87888294},"er_loo":{"rankscore":0.93484,"score":0.87888294},"r":{"rankscore":0.97384,"score":0.9610256},"r_loo":{"rankscore":0.97384,"score":0.9610256}},"vep_canonical":"YES","vest4":{"rankscore":0.90025,"score":[0.898,0.9]},"vindijia_neandertal":["G","G"]},"hg38":{"end":150541582,"start":150541582},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"8030","position":"2264"},"cds":{"length":"2649","position":"1762"},"effect":"missense_variant","feature_id":"NM_001543.4","feature_type":"transcript","gene_id":"NDST1","genename":"NDST1","hgvs_c":"c.1762G>T","hgvs_p":"p.Asp588Tyr","protein":{"length":"882","position":"588"},"putative_impact":"MODERATE","rank":"9","total":"15","transcript_biotype":"protein_coding"},{"cdna":{"length":"7946","position":"2351"},"cds":{"length":"2478","position":"1762"},"effect":"missense_variant","feature_id":"NM_001301063.1","feature_type":"transcript","gene_id":"NDST1","genename":"NDST1","hgvs_c":"c.1762G>T","hgvs_p":"p.Asp588Tyr","protein":{"length":"825","position":"588"},"putative_impact":"MODERATE","rank":"9","total":"14","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"150541582","ref":"G"}}