{"_id":"chr14:g.94844829G>T","_version":1,"cadd":{"_license":"http://bit.ly/2TIuab9","alt":"T","anc":"G","annotype":"CodingTranscript","bstatistic":840,"chmm":{"bivflnk":0.0,"enh":0.008,"enhbiv":0.0,"het":0.024,"quies":0.496,"reprpc":0.016,"reprpcwk":0.26,"tssa":0.0,"tssaflnk":0.0,"tssbiv":0.0,"tx":0.063,"txflnk":0.0,"txwk":0.118,"znfrpts":0.0},"chrom":14,"consdetail":"missense","consequence":"NON_SYNONYMOUS","consscore":7,"cpg":0.03,"dna":{"helt":0.56,"mgw":1.11,"prot":-1.54,"roll":5.0},"encode":{"exp":6.22,"h3k27ac":2.68,"h3k4me1":1.0,"h3k4me3":1.36,"nucleo":0.7},"exon":"7/7","fitcons":0.527649,"gc":0.48,"gene":{"ccds_id":"CCDS9925.1","cds":{"cdna_pos":1787,"cds_pos":1214,"rel_cdna_pos":0.51,"rel_cds_pos":0.97},"feature_id":"ENST00000448921","gene_id":"ENSG00000197249","genename":"SERPINA1","prot":{"domain":"ndomain","protpos":405,"rel_prot_pos":0.97}},"gerp":{"n":4.37,"s":-8.74},"grantham":144,"isderived":"TRUE","isknownvariant":"FALSE","istv":"TRUE","length":0,"mapability":{"20bp":1,"35bp":1},"min_dist_tse":43,"min_dist_tss":4755,"mutindex":37,"naa":"Y","oaa":"S","phast_cons":{"mammalian":0.0,"primate":0.0,"vertebrate":0.0},"phred":8.393,"phylop":{"mammalian":-2.819,"primate":-1.114,"vertebrate":-1.088},"polyphen":{"cat":"probably_damaging","val":0.927},"pos":94844829,"rawscore":0.634641,"ref":"G","segway":"L0","sift":{"cat":"tolerated","val":0.19},"type":"SNV"},"chrom":"14","dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"Y","codon_degeneracy":[0,0,0,0,0,0,0,0,0],"codonpos":[2,2,2,2,2,2,2,2,2],"pos":[405,405,405,405,405,405,405,405,405],"ref":"S","refcodon":["TCT","TCT","TCT","TCT","TCT","TCT","TCT","TCT","TCT"]},"alfa":{"african":{"ac":0,"af":0.0,"an":2816},"african_american":{"ac":0,"af":0.0,"an":2708},"african_others":{"ac":0,"af":0.0,"an":108},"asian":{"ac":0,"af":0.0,"an":108},"east_asian":{"ac":0,"af":0.0,"an":84},"european":{"ac":0,"af":0.0,"an":7618},"latin_american_1":{"ac":0,"af":0.0,"an":146},"latin_american_2":{"ac":0,"af":0.0,"an":610},"other":{"ac":0,"af":0.0,"an":470},"other_asian":{"ac":0,"af":0.0,"an":24},"south_asian":{"ac":0,"af":0.0,"an":94},"total":{"ac":0,"af":0.0,"an":11862}},"alphamissense":{"pred":["B","B"],"rankscore":0.46949,"score":[0.2359,0.2238]},"alt":"T","altai_neandertal":["G","G"],"appris":["principal1","principal1","principal1","principal1","principal1","principal1","principal1","principal1","principal1"],"bayesdel":{"add_af":{"pred":"T","rankscore":0.5672,"score":0.0375211},"no_af":{"pred":"T","rankscore":0.56161,"score":-0.18388}},"bstatistic":{"converted_rankscore":0.20147,"score":917.0},"chagyrskaya_neandertal":["G","G"],"chrom":"14","clinpred":{"pred":"T","rankscore":0.30483,"score":0.441444537708938},"dann":{"rankscore":0.25952,"score":0.9499649282173377},"denisova":["G","G"],"deogen2":{"pred":["T","T","T","T","T","T","T","T","T"],"rankscore":0.81006,"score":[0.481526,0.481526,0.481526,0.481526,0.481526,0.481526,0.481526,0.481526,0.481526]},"eigen":{"phred_coding":0.5563505,"raw_coding":-0.871692082300654,"raw_coding_rankscore":0.1152},"eigen-pc":{"phred_coding":0.2086648,"raw_coding":-1.30049526215847,"raw_coding_rankscore":0.04424},"ensembl":{"geneid":["ENSG00000197249","ENSG00000197249","ENSG00000197249","ENSG00000197249","ENSG00000197249","ENSG00000197249","ENSG00000197249","ENSG00000197249","ENSG00000197249"],"proteinid":["ENSP00000390299","ENSP00000408474","ENSP00000348068","ENSP00000416066","ENSP00000376802","ENSP00000490054","ENSP00000376803","ENSP00000385960","ENSP00000416354"],"transcriptid":["ENST00000440909","ENST00000437397","ENST00000355814","ENST00000448921","ENST00000393087","ENST00000636712","ENST00000393088","ENST00000404814","ENST00000449399"]},"esm1b":{"pred":["D","D","D","D","D","D","D","D","D"],"rankscore":0.58157,"score":[-7.578,-7.578,-7.578,-7.578,-7.578,-7.578,-7.578,-7.578,-7.578]},"eve":{"class10_pred":["U","U","U","U","U","U","U","U","U"],"class20_pred":["U","U","U","U","U","U","U","U","U"],"class25_pred":["U","U","U","U","U","U","U","U","U"],"class30_pred":["U","U","U","U","U","U","U","U","U"],"class40_pred":["U","U","U","U","U","U","U","U","U"],"class50_pred":["U","U","U","U","U","U","U","U","U"],"class60_pred":["U","U","U","U","U","U","U","U","U"],"class70_pred":["U","U","U","U","U","U","U","U","U"],"class75_pred":["U","U","U","U","U","U","U","U","U"],"class80_pred":["U","U","U","U","U","U","U","U","U"],"class90_pred":["P","P","P","P","P","P","P","P","P"],"rankscore":0.68099,"score":[0.6132373428089913,0.6132373428089913,0.6132373428089913,0.6132373428089913,0.6132373428089913,0.6132373428089913,0.6132373428089913,0.6132373428089913,0.6132373428089913]},"fathmm":{"converted_rankscore":0.85393,"pred":["D","D","D","D","D","D","D","D"],"score":[-2.0,-2.0,-2.0,-2.0,-2.0,-2.0,-2.0,-2.0]},"fathmm-mkl":{"coding_group":"AEFBCI","coding_pred":"N","coding_rankscore":0.14183,"coding_score":0.08227},"fathmm-xf":{"coding_pred":"D","coding_rankscore":0.5721,"coding_score":0.565907},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.51514,"score":0.610034},"h1-hesc":{"confidence_value":0,"rankscore":0.15389,"score":0.547309},"huvec":{"confidence_value":0,"rankscore":0.26826,"score":0.564101},"integrated":{"confidence_value":0,"rankscore":0.20929,"score":0.516011}},"gencode_basic":["Y","Y","Y","Y","Y","Y","Y","Y","Y"],"genename":["SERPINA1","SERPINA1","SERPINA1","SERPINA1","SERPINA1","SERPINA1","SERPINA1","SERPINA1","SERPINA1"],"genocanyon":{"rankscore":0.74766,"score":0.999999978523191},"gerp++":{"nr":4.37,"rs":-8.74,"rs_rankscore":0.00725},"gmvp":{"rankscore":0.53834,"score":0.5390970409820202},"hg18":{"end":93914582,"start":93914582},"hg19":{"end":94844829,"start":94844829},"hg38":{"end":94378492,"start":94378492},"hgvsc":"c.1214C>A","hgvsp":["p.Ser405Tyr","p.S405Y"],"interpro":{"domain":["Serpin domain|Serpin domain","Serpin domain|Serpin domain","Serpin domain|Serpin domain","Serpin domain|Serpin domain","Serpin domain|Serpin domain","Serpin domain|Serpin domain","Serpin domain|Serpin domain","Serpin domain|Serpin domain","Serpin domain|Serpin domain"]},"list-s2":{"pred":"T","rankscore":0.20426,"score":0.572243},"lrt":{"converted_rankscore":0.08895,"omega":0.922407,"pred":"N","score":0.860962},"m-cap":{"pred":"D","rankscore":0.72067,"score":0.074546},"metalr":{"pred":"D","rankscore":0.91337,"score":0.7461},"metarnn":{"pred":["D","D","D","D","D","D","D","D","D"],"rankscore":0.84825,"score":[0.85627246,0.85627246,0.85627246,0.85627246,0.85627246,0.85627246,0.85627246,0.85627246,0.85627246]},"metasvm":{"pred":"D","rankscore":0.85093,"score":0.1521},"mpc":{"rankscore":0.33463,"score":0.311567472616},"mutationassessor":{"pred":["H","H","H","H","H","H","H","H","H"],"rankscore":0.98003,"score":[4.24,4.24,4.24,4.24,4.24,4.24,4.24,4.24,4.24]},"mutationtaster":{"aae":["S405Y","S405Y","S405Y","S405Y","S405Y","S405Y","S405Y","S405Y"],"converted_rankscore":0.08975,"model":["simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae","simple_aae"],"pred":["N","N","N","N","N","N","N","N"],"score":[1.0,1.0,1.0,1.0,1.0,1.0,1.0,1.0]},"mutformer":{"rankscore":0.97033,"score":0.9917653},"mutpred":{"aa_change":["S405Y","S405Y","S405Y","S405Y","S405Y","S405Y","S405Y","S405Y","S405Y"],"accession":["P01009","P01009","P01009","P01009","P01009","P01009","P01009","P01009","P01009"],"pred":[{"mechanism":"Gain of catalytic residue at Q401","p_val":0.0},{"mechanism":"Gain of catalytic residue at Q401","p_val":0.0},{"mechanism":"Gain of catalytic residue at Q401","p_val":0.0},{"mechanism":"Gain of catalytic residue at Q401","p_val":0.0},{"mechanism":"Gain of catalytic residue at Q401","p_val":0.0},{"mechanism":"Gain of catalytic residue at Q401","p_val":0.0},{"mechanism":"Gain of catalytic residue at Q401","p_val":0.0},{"mechanism":"Gain of catalytic residue at Q401","p_val":0.0},{"mechanism":"Gain of catalytic residue at Q401","p_val":0.0}],"rankscore":0.85761,"score":[0.723,0.723,0.723,0.723,0.723,0.723,0.723,0.723,0.723]},"mvp":{"rankscore":0.95482,"score":[0.955291583424,0.955291583424,0.955291583424,0.955291583424,0.955291583424,0.955291583424,0.955291583424,0.955291583424]},"phactboost":{"rankscore":0.61755,"score":[0.533049157578644,0.533049157578644,0.533049157578644,0.533049157578644,0.533049157578644,0.533049157578644,0.533049157578644,0.533049157578644,0.533049157578644]},"phastcons":{"100way_vertebrate":{"rankscore":0.06391,"score":0.0},"17way_primate":{"rankscore":0.00833,"score":0.0},"470way_mammalian":{"rankscore":0.08366,"score":0.0}},"phylop":{"100way_vertebrate":{"rankscore":0.03295,"score":-1.148},"17way_primate":{"rankscore":0.01825,"score":-0.997},"470way_mammalian":{"rankscore":0.00162,"score":-20.0}},"polyphen2":{"hdiv":{"pred":["D","D","D","D","D","D","D","D","D"],"rankscore":0.60733,"score":[0.984,0.984,0.984,0.984,0.984,0.984,0.984,0.984,0.984]},"hvar":{"pred":["P","P","P","P","P","P","P","P","P"],"rankscore":0.6426,"score":[0.905,0.905,0.905,0.905,0.905,0.905,0.905,0.905,0.905]}},"primateai":{"pred":"T","rankscore":0.1571,"score":0.335149765015},"provean":{"converted_rankscore":0.68651,"pred":["D","D","D","D","D","D","D","D"],"score":[-3.54,-3.54,-3.54,-3.54,-3.54,-3.54,-3.54,-3.54]},"ref":"G","reliability_index":10,"revel":{"rankscore":0.72404,"score":[0.413,0.413,0.413,0.413,0.413,0.413,0.413,0.413]},"rsid":"rs1008480744","sift":{"converted_rankscore":0.63226,"pred":["D","D","D","D","D","D","D","D"],"score":[0.005,0.005,0.005,0.005,0.005,0.005,0.005,0.005]},"sift4g":{"converted_rankscore":0.2886,"pred":["T","T","T","T","T","T","T","T"],"score":[0.186,0.186,0.186,0.186,0.186,0.186,0.186,0.186]},"siphy_29way":{"logodds_rankscore":0.15066,"logodds_score":5.2967,"pi":{"a":0.1834,"c":0.1894,"g":0.4974,"t":0.1298}},"tsl":[1,1,1,1,1,5,1,1,1],"uniprot":[{"acc":"P01009","entry":"A1AT_HUMAN"},{"acc":"P01009","entry":"A1AT_HUMAN"},{"acc":"P01009","entry":"A1AT_HUMAN"},{"acc":"P01009","entry":"A1AT_HUMAN"},{"acc":"P01009","entry":"A1AT_HUMAN"},{"acc":"P01009","entry":"A1AT_HUMAN"},{"acc":"P01009","entry":"A1AT_HUMAN"},{"acc":"P01009","entry":"A1AT_HUMAN"},{"acc":"P01009","entry":"A1AT_HUMAN"}],"varity":{"er":{"rankscore":0.74973,"score":[0.5676951,0.5676951,0.5676951,0.5676951,0.5676951,0.5676951,0.5676951,0.5676951,0.5676951]},"er_loo":{"rankscore":0.74974,"score":[0.5676951,0.5676951,0.5676951,0.5676951,0.5676951,0.5676951,0.5676951,0.5676951,0.5676951]},"r":{"rankscore":0.78281,"score":[0.7040936,0.7040936,0.7040936,0.7040936,0.7040936,0.7040936,0.7040936,0.7040936,0.7040936]},"r_loo":{"rankscore":0.78282,"score":[0.7040936,0.7040936,0.7040936,0.7040936,0.7040936,0.7040936,0.7040936,0.7040936,0.7040936]}},"vep_canonical":"YES","vest4":{"rankscore":0.48042,"score":[0.38,0.38,0.38,0.379,0.428,0.431,0.433,0.442]},"vindijia_neandertal":["G","G"]},"dbsnp":{"_license":"http://bit.ly/2AqoLOc","alleles":[{"allele":"G","freq":{"dbgap_popfreq":1.0,"gnomad":1.0,"tommo":1.0,"topmed":1.0}},{"allele":"A","freq":{"tommo":0.0}},{"allele":"T","freq":{"dbgap_popfreq":0.0,"gnomad":0.0,"topmed":0.0}}],"alt":"T","chrom":"14","dbsnp_build":156,"gene":{"geneid":5265,"is_pseudo":false,"name":"serpin family A member 1","rnas":[{"codon_aligned_transcript_change":{"deleted_sequence":"TCT","inserted_sequence":"TCT","position":1259,"seq_id":"NM_000295.5"},"hgvs":"NM_000295.5:c.1214=","protein":{"variant":{"spdi":{"deleted_sequence":"S","inserted_sequence":"S","position":404,"seq_id":"NP_000286.3"}}},"protein_product":{"refseq":"NP_000286.3"},"refseq":"NM_000295.5","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"TCT","inserted_sequence":"TCT","position":1395,"seq_id":"NM_001002235.3"},"hgvs":"NM_001002235.3:c.1214=","protein":{"variant":{"spdi":{"deleted_sequence":"S","inserted_sequence":"S","position":404,"seq_id":"NP_001002235.1"}}},"protein_product":{"refseq":"NP_001002235.1"},"refseq":"NM_001002235.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"TCT","inserted_sequence":"TCT","position":1709,"seq_id":"NM_001002236.3"},"hgvs":"NM_001002236.3:c.1214=","protein":{"variant":{"spdi":{"deleted_sequence":"S","inserted_sequence":"S","position":404,"seq_id":"NP_001002236.1"}}},"protein_product":{"refseq":"NP_001002236.1"},"refseq":"NM_001002236.3","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"TCT","inserted_sequence":"TCT","position":1432,"seq_id":"NM_001127700.2"},"hgvs":"NM_001127700.2:c.1214=","protein":{"variant":{"spdi":{"deleted_sequence":"S","inserted_sequence":"S","position":404,"seq_id":"NP_001121172.1"}}},"protein_product":{"refseq":"NP_001121172.1"},"refseq":"NM_001127700.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"TCT","inserted_sequence":"TCT","position":1728,"seq_id":"NM_001127701.2"},"hgvs":"NM_001127701.2:c.1214=","protein":{"variant":{"spdi":{"deleted_sequence":"S","inserted_sequence":"S","position":404,"seq_id":"NP_001121173.1"}}},"protein_product":{"refseq":"NP_001121173.1"},"refseq":"NM_001127701.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"TCT","inserted_sequence":"TCT","position":1536,"seq_id":"NM_001127702.2"},"hgvs":"NM_001127702.2:c.1214=","protein":{"variant":{"spdi":{"deleted_sequence":"S","inserted_sequence":"S","position":404,"seq_id":"NP_001121174.1"}}},"protein_product":{"refseq":"NP_001121174.1"},"refseq":"NM_001127702.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"TCT","inserted_sequence":"TCT","position":1691,"seq_id":"NM_001127703.2"},"hgvs":"NM_001127703.2:c.1214=","protein":{"variant":{"spdi":{"deleted_sequence":"S","inserted_sequence":"S","position":404,"seq_id":"NP_001121175.1"}}},"protein_product":{"refseq":"NP_001121175.1"},"refseq":"NM_001127703.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"TCT","inserted_sequence":"TCT","position":1688,"seq_id":"NM_001127704.2"},"hgvs":"NM_001127704.2:c.1214=","protein":{"variant":{"spdi":{"deleted_sequence":"S","inserted_sequence":"S","position":404,"seq_id":"NP_001121176.1"}}},"protein_product":{"refseq":"NP_001121176.1"},"refseq":"NM_001127704.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"TCT","inserted_sequence":"TCT","position":1706,"seq_id":"NM_001127705.2"},"hgvs":"NM_001127705.2:c.1214=","protein":{"variant":{"spdi":{"deleted_sequence":"S","inserted_sequence":"S","position":404,"seq_id":"NP_001121177.1"}}},"protein_product":{"refseq":"NP_001121177.1"},"refseq":"NM_001127705.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"TCT","inserted_sequence":"TCT","position":1499,"seq_id":"NM_001127706.2"},"hgvs":"NM_001127706.2:c.1214=","protein":{"variant":{"spdi":{"deleted_sequence":"S","inserted_sequence":"S","position":404,"seq_id":"NP_001121178.1"}}},"protein_product":{"refseq":"NP_001121178.1"},"refseq":"NM_001127706.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"TCT","inserted_sequence":"TCT","position":1496,"seq_id":"NM_001127707.2"},"hgvs":"NM_001127707.2:c.1214=","protein":{"variant":{"spdi":{"deleted_sequence":"S","inserted_sequence":"S","position":404,"seq_id":"NP_001121179.1"}}},"protein_product":{"refseq":"NP_001121179.1"},"refseq":"NM_001127707.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"TCT","inserted_sequence":"TCT","position":1634,"seq_id":"XM_017021370.2"},"hgvs":"XM_017021370.2:c.1214=","protein":{"variant":{"spdi":{"deleted_sequence":"S","inserted_sequence":"S","position":404,"seq_id":"XP_016876859.1"}}},"protein_product":{"refseq":"XP_016876859.1"},"refseq":"XM_017021370.2","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"TCT","inserted_sequence":"TCT","position":1533,"seq_id":"XM_047431478.1"},"hgvs":"XM_047431478.1:c.1214=","protein":{"variant":{"spdi":{"deleted_sequence":"S","inserted_sequence":"S","position":404,"seq_id":"XP_047287434.1"}}},"protein_product":{"refseq":"XP_047287434.1"},"refseq":"XM_047431478.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]},{"codon_aligned_transcript_change":{"deleted_sequence":"TCT","inserted_sequence":"TCT","position":1637,"seq_id":"XM_047431479.1"},"hgvs":"XM_047431479.1:c.1214=","protein":{"variant":{"spdi":{"deleted_sequence":"S","inserted_sequence":"S","position":404,"seq_id":"XP_047287435.1"}}},"protein_product":{"refseq":"XP_047287435.1"},"refseq":"XM_047431479.1","so":[{"accession":"SO:0001580","name":"coding_sequence_variant"}]}],"strand":"-","symbol":"SERPINA1"},"hg19":{"end":94844829,"start":94844829},"ref":"G","rsid":"rs1008480744","vartype":"snv"},"hg19":{"end":94844829,"start":94844829},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"3220","position":"1475"},"cds":{"length":"1257","position":"1214"},"effect":"missense_variant","feature_id":"NM_000295.4","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1214C>A","hgvs_p":"p.Ser405Tyr","protein":{"length":"418","position":"405"},"putative_impact":"MODERATE","rank":"5","total":"5","transcript_biotype":"protein_coding"},{"cdna":{"length":"3199","position":"1454"},"cds":{"length":"1257","position":"1214"},"effect":"missense_variant","feature_id":"NM_001002235.2","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1214C>A","hgvs_p":"p.Ser405Tyr","protein":{"length":"418","position":"405"},"putative_impact":"MODERATE","rank":"5","total":"5","transcript_biotype":"protein_coding"},{"cdna":{"length":"3513","position":"1768"},"cds":{"length":"1257","position":"1214"},"effect":"missense_variant","feature_id":"NM_001002236.2","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1214C>A","hgvs_p":"p.Ser405Tyr","protein":{"length":"418","position":"405"},"putative_impact":"MODERATE","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"cdna":{"length":"3236","position":"1491"},"cds":{"length":"1257","position":"1214"},"effect":"missense_variant","feature_id":"NM_001127700.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1214C>A","hgvs_p":"p.Ser405Tyr","protein":{"length":"418","position":"405"},"putative_impact":"MODERATE","rank":"5","total":"5","transcript_biotype":"protein_coding"},{"cdna":{"length":"3532","position":"1787"},"cds":{"length":"1257","position":"1214"},"effect":"missense_variant","feature_id":"NM_001127701.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1214C>A","hgvs_p":"p.Ser405Tyr","protein":{"length":"418","position":"405"},"putative_impact":"MODERATE","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"cdna":{"length":"3340","position":"1595"},"cds":{"length":"1257","position":"1214"},"effect":"missense_variant","feature_id":"NM_001127702.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1214C>A","hgvs_p":"p.Ser405Tyr","protein":{"length":"418","position":"405"},"putative_impact":"MODERATE","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"cdna":{"length":"3495","position":"1750"},"cds":{"length":"1257","position":"1214"},"effect":"missense_variant","feature_id":"NM_001127703.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1214C>A","hgvs_p":"p.Ser405Tyr","protein":{"length":"418","position":"405"},"putative_impact":"MODERATE","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"cdna":{"length":"3492","position":"1747"},"cds":{"length":"1257","position":"1214"},"effect":"missense_variant","feature_id":"NM_001127704.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1214C>A","hgvs_p":"p.Ser405Tyr","protein":{"length":"418","position":"405"},"putative_impact":"MODERATE","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"cdna":{"length":"3510","position":"1765"},"cds":{"length":"1257","position":"1214"},"effect":"missense_variant","feature_id":"NM_001127705.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1214C>A","hgvs_p":"p.Ser405Tyr","protein":{"length":"418","position":"405"},"putative_impact":"MODERATE","rank":"7","total":"7","transcript_biotype":"protein_coding"},{"cdna":{"length":"3303","position":"1558"},"cds":{"length":"1257","position":"1214"},"effect":"missense_variant","feature_id":"NM_001127706.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1214C>A","hgvs_p":"p.Ser405Tyr","protein":{"length":"418","position":"405"},"putative_impact":"MODERATE","rank":"6","total":"6","transcript_biotype":"protein_coding"},{"cdna":{"length":"3300","position":"1555"},"cds":{"length":"1257","position":"1214"},"effect":"missense_variant","feature_id":"NM_001127707.1","feature_type":"transcript","gene_id":"SERPINA1","genename":"SERPINA1","hgvs_c":"c.1214C>A","hgvs_p":"p.Ser405Tyr","protein":{"length":"418","position":"405"},"putative_impact":"MODERATE","rank":"6","total":"6","transcript_biotype":"protein_coding"}]},"vcf":{"alt":"T","position":"94844829","ref":"G"}}