{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA370735696", "communityStandardTitle": [ "NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3110155[alleleid]", "alleleId": 3110155, "preferredName": "NM_023110.3(FGFR1):c.532T>G (p.Cys178Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2952541", "RCV": [ "RCV003817675" ], "variationId": 2952541 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.38285528A>C?assembly=hg19", "id": "chr8:g.38285528A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.38428010A>C?assembly=hg38", "id": "chr8:g.38428010A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2150914598", "rs": 2150914598 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "C", "end": 38428010, "referenceAllele": "A", "start": 38428009 } ], "hgvs": [ "NC_000008.11:g.38428010A>C", "CM000670.2:g.38428010A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "C", "end": 38285528, "referenceAllele": "A", "start": 38285527 } ], "hgvs": [ "NC_000008.10:g.38285528A>C", "CM000670.1:g.38285528A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "C", "end": 38404685, "referenceAllele": "A", "start": 38404684 } ], "hgvs": [ "NC_000008.9:g.38404685A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "G", "end": 45825, "referenceAllele": "T", "start": 45824 } ], "hgvs": [ "NG_007729.1:g.45825T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000675" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1468, "referenceAllele": "T", "start": 1467 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000703405.1:c.526T>G" ], "proteinEffect": { "hgvs": "ENSP00000515291.1:p.Cys176Gly", "hgvsWellDefined": "ENSP00000515291.1:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911687" }, { "coordinates": [ { "allele": "G", "end": 1235, "referenceAllele": "T", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000341462.9:c.526T>G" ], "proteinEffect": { "hgvs": "ENSP00000340636.7:p.Cys176Gly", "hgvsWellDefined": "ENSP00000340636.7:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS824009" }, { "coordinates": [ { "allele": "G", "end": 644, "referenceAllele": "T", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000425967.8:c.526T>G" ], "proteinEffect": { "hgvs": "ENSP00000393312.4:p.Cys176Gly", "hgvsWellDefined": "ENSP00000393312.4:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS824777" }, { "coordinates": [ { "allele": "G", "end": 1493, "referenceAllele": "T", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000683276.1:n.1493T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828257" }, { "coordinates": [ { "allele": "G", "end": 1235, "referenceAllele": "T", "start": 1234 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000683765.1:c.526T>G" ], "proteinEffect": { "hgvs": "ENSP00000507039.1:p.Cys176Gly", "hgvsWellDefined": "ENSP00000507039.1:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS828736" }, { "coordinates": [ { "allele": "G", "end": 1241, "referenceAllele": "T", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000683795.1:n.1241T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828766" }, { "coordinates": [ { "allele": "G", "end": 1267, "referenceAllele": "T", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000683815.1:c.526T>G" ], "proteinEffect": { "hgvs": "ENSP00000507997.1:p.Cys176Gly", "hgvsWellDefined": "ENSP00000507997.1:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS828784" }, { "coordinates": [ { "allele": "G", "end": 1226, "referenceAllele": "T", "start": 1225 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000683948.1:n.1226T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828913" }, { "coordinates": [ { "allele": "G", "end": 1000, "referenceAllele": "T", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000684654.1:c.259T>G" ], "proteinEffect": { "hgvs": "ENSP00000507205.1:p.Cys87Gly", "hgvsWellDefined": "ENSP00000507205.1:p.Cys87Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS829605" }, { "coordinates": [ { "allele": "G", "end": 1275, "referenceAllele": "T", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000447712.7:c.532T>G" ], "proteinEffect": { "hgvs": "ENSP00000400162.2:p.Cys178Gly", "hgvsWellDefined": "ENSP00000400162.2:p.Cys178Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS756140", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000447712.7:c.532T>G" }, "RefSeq": { "hgvs": "NM_023110.3:c.532T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400162.2:p.Cys178Gly" }, "RefSeq": { "hgvs": "NP_075598.2:p.Cys178Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 698, "referenceAllele": "T", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000649678.1:c.526T>G" ], "proteinEffect": { "hgvs": "ENSP00000497266.1:p.Cys176Gly", "hgvsWellDefined": "ENSP00000497266.1:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS770674" }, { "coordinates": [ { "allele": "G", "end": 901, "referenceAllele": "T", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000674189.1:c.*499T>G" ], "proteinEffect": { "hgvs": "ENSP00000501345.1:n.*499T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS774201" }, { "coordinates": [ { "allele": "G", "end": 168, "referenceAllele": "T", "start": 167 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000674235.1:c.168T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS774240" }, { "coordinates": [ { "allele": "G", "end": 868, "referenceAllele": "T", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000674380.1:c.*499T>G" ], "proteinEffect": { "hgvs": "ENSP00000501514.1:n.*499T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS774355" }, { "coordinates": [ { "allele": "G", "end": 792, "referenceAllele": "T", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000674474.1:n.792T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS774438" }, { "coordinates": [ { "allele": "G", "end": 983, "referenceAllele": "T", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000326324.10:c.259T>G" ], "proteinEffect": { "hgvs": "ENSP00000327229.6:p.Cys87Gly", "hgvsWellDefined": "ENSP00000327229.6:p.Cys87Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS258606" }, { "coordinates": [ { "allele": "G", "end": 1329, "referenceAllele": "T", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000335922.9:c.508T>G" ], "proteinEffect": { "hgvs": "ENSP00000337247.5:p.Cys170Gly", "hgvsWellDefined": "ENSP00000337247.5:p.Cys170Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS260217" }, { "coordinates": [ { "allele": "G", "end": 1477, "referenceAllele": "T", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000341462.8:c.535T>G" ], "proteinEffect": { "hgvs": "ENSP00000340636.6:p.Cys179Gly", "hgvsWellDefined": "ENSP00000340636.6:p.Cys179Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS261340" }, { "coordinates": [ { "allele": "G", "end": 989, "referenceAllele": "T", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000356207.9:c.265T>G" ], "proteinEffect": { "hgvs": "ENSP00000348537.5:p.Cys89Gly", "hgvsWellDefined": "ENSP00000348537.5:p.Cys89Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS263687" }, { "coordinates": [ { "allele": "G", "end": 1275, "referenceAllele": "T", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000397091.9:c.526T>G" ], "proteinEffect": { "hgvs": "ENSP00000380280.5:p.Cys176Gly", "hgvsWellDefined": "ENSP00000380280.5:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS277607" }, { "coordinates": [ { "allele": "G", "end": 316, "referenceAllele": "T", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000397103.5:c.259T>G" ], "proteinEffect": { "hgvs": "ENSP00000380292.1:p.Cys87Gly", "hgvsWellDefined": "ENSP00000380292.1:p.Cys87Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS277617" }, { "coordinates": [ { "allele": "G", "end": 827, "referenceAllele": "T", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000397108.8:c.526T>G" ], "proteinEffect": { "hgvs": "ENSP00000380297.4:p.Cys176Gly", "hgvsWellDefined": "ENSP00000380297.4:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS277620" }, { "coordinates": [ { "allele": "G", "end": 843, "referenceAllele": "T", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000397113.6:c.526T>G" ], "proteinEffect": { "hgvs": "ENSP00000380302.2:p.Cys176Gly", "hgvsWellDefined": "ENSP00000380302.2:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS277625" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "T", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000425967.7:c.625T>G" ], "proteinEffect": { "hgvs": "ENSP00000393312.3:p.Cys209Gly", "hgvsWellDefined": "ENSP00000393312.3:p.Cys209Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS289006" }, { "coordinates": [ { "allele": "G", "end": 1474, "referenceAllele": "T", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000447712.6:c.532T>G" ], "proteinEffect": { "hgvs": "ENSP00000400162.2:p.Cys178Gly", "hgvsWellDefined": "ENSP00000400162.2:p.Cys178Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS299382" }, { "coordinates": [ { "allele": "G", "end": 681, "referenceAllele": "T", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000470826.5:n.681T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS313164" }, { "coordinates": [ { "allele": "G", "end": 556, "referenceAllele": "T", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000474970.1:n.556T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS316362" }, { "coordinates": [ { "allele": "G", "end": 670, "referenceAllele": "T", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000484370.5:c.670T>G" ], "proteinEffect": { "hgvs": "ENSP00000433163.1:n.670T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS323636" }, { "coordinates": [ { "allele": "G", "end": 409, "referenceAllele": "T", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000487647.5:c.409T>G" ], "proteinEffect": { "hgvs": "ENSP00000435254.1:n.409T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS326165" }, { "coordinates": [ { "allele": "G", "end": 1002, "referenceAllele": "T", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000496296.5:n.1002T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS332804" }, { "coordinates": [ { "allele": "G", "end": 791, "referenceAllele": "T", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000525001.5:c.532T>G" ], "proteinEffect": { "hgvs": "ENSP00000434712.1:p.Cys178Gly", "hgvsWellDefined": "ENSP00000434712.1:p.Cys178Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS351082" }, { "coordinates": [ { "allele": "G", "end": 2811, "referenceAllele": "T", "start": 2810 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000526570.5:n.2811T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS352416" }, { "coordinates": [ { "allele": "G", "end": 480, "referenceAllele": "T", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000526742.5:c.259T>G" ], "proteinEffect": { "hgvs": "ENSP00000433569.1:p.Cys87Gly", "hgvsWellDefined": "ENSP00000433569.1:p.Cys87Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS352553" }, { "coordinates": [ { "allele": "G", "end": 295, "referenceAllele": "T", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000527203.5:n.295T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS352949" }, { "coordinates": [ { "allele": "G", "end": 527, "referenceAllele": "T", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000529552.5:c.265T>G" ], "proteinEffect": { "hgvs": "ENSP00000435283.1:p.Cys89Gly", "hgvsWellDefined": "ENSP00000435283.1:p.Cys89Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS354927" }, { "coordinates": [ { "allele": "G", "end": 177, "endIntronDirection": "-", "endIntronOffset": 6068, "referenceAllele": "T", "start": 177, "startIntronDirection": "-", "startIntronOffset": 6069 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000530701.1:n.178-6069T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS355909" }, { "coordinates": [ { "allele": "G", "end": 495, "referenceAllele": "T", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000532386.5:n.495T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS357325" }, { "coordinates": [ { "allele": "G", "end": 1262, "referenceAllele": "T", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000532791.5:c.532T>G" ], "proteinEffect": { "hgvs": "ENSP00000432972.1:p.Cys178Gly", "hgvsWellDefined": "ENSP00000432972.1:p.Cys178Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS357662" }, { "coordinates": [ { "allele": "G", "end": 204, "referenceAllele": "T", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000533668.5:c.52T>G" ], "proteinEffect": { "hgvs": "ENSP00000434869.1:p.Cys18Gly", "hgvsWellDefined": "ENSP00000434869.1:p.Cys18Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS358404" }, { "coordinates": [ { "allele": "G", "end": 1201, "referenceAllele": "T", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "ENST00000619564.3:c.259T>G" ], "proteinEffect": { "hgvs": "ENSP00000484553.1:p.Cys87Gly", "hgvsWellDefined": "ENSP00000484553.1:p.Cys87Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS404436" }, { "@id": "http://reg.genome.network/allele/PA2826098401", "coordinates": [ { "allele": "G", "end": 1474, "referenceAllele": "T", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174063.1:c.532T>G" ], "proteinEffect": { "hgvs": "NP_001167534.1:p.Cys178Gly", "hgvsWellDefined": "NP_001167534.1:p.Cys178Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS015643" }, { "@id": "http://reg.genome.network/allele/PA2826099243", "coordinates": [ { "allele": "G", "end": 1542, "referenceAllele": "T", "start": 1541 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174064.1:c.508T>G" ], "proteinEffect": { "hgvs": "NP_001167535.1:p.Cys170Gly", "hgvsWellDefined": "NP_001167535.1:p.Cys170Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS015644" }, { "@id": "http://reg.genome.network/allele/PA2826100029", "coordinates": [ { "allele": "G", "end": 788, "referenceAllele": "T", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174065.1:c.526T>G" ], "proteinEffect": { "hgvs": "NP_001167536.1:p.Cys176Gly", "hgvsWellDefined": "NP_001167536.1:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS015645" }, { "@id": "http://reg.genome.network/allele/PA2826100923", "coordinates": [ { "allele": "G", "end": 527, "referenceAllele": "T", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174066.1:c.265T>G" ], "proteinEffect": { "hgvs": "NP_001167537.1:p.Cys89Gly", "hgvsWellDefined": "NP_001167537.1:p.Cys89Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS015646" }, { "@id": "http://reg.genome.network/allele/PA2826101871", "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "T", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174067.1:c.625T>G" ], "proteinEffect": { "hgvs": "NP_001167538.1:p.Cys209Gly", "hgvsWellDefined": "NP_001167538.1:p.Cys209Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS015647" }, { "@id": "http://reg.genome.network/allele/PA2829853013", "coordinates": [ { "allele": "G", "end": 1468, "referenceAllele": "T", "start": 1467 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_015850.3:c.526T>G" ], "proteinEffect": { "hgvs": "NP_056934.2:p.Cys176Gly", "hgvsWellDefined": "NP_056934.2:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS034242" }, { "@id": "http://reg.genome.network/allele/PA2741983137", "coordinates": [ { "allele": "G", "end": 1207, "referenceAllele": "T", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023105.2:c.265T>G" ], "proteinEffect": { "hgvs": "NP_075593.1:p.Cys89Gly", "hgvsWellDefined": "NP_075593.1:p.Cys89Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS037565" }, { "@id": "http://reg.genome.network/allele/PA2830018946", "coordinates": [ { "allele": "G", "end": 1201, "referenceAllele": "T", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023106.2:c.259T>G" ], "proteinEffect": { "hgvs": "NP_075594.1:p.Cys87Gly", "hgvsWellDefined": "NP_075594.1:p.Cys87Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS037566" }, { "@id": "http://reg.genome.network/allele/PA2830019624", "coordinates": [ { "allele": "G", "end": 1474, "referenceAllele": "T", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023110.2:c.532T>G" ], "proteinEffect": { "hgvs": "NP_075598.2:p.Cys178Gly", "hgvsWellDefined": "NP_075598.2:p.Cys178Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS037567" }, { "coordinates": [ { "allele": "G", "end": 1275, "referenceAllele": "T", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716303.2:c.532T>G" ], "proteinEffect": { "hgvs": "XP_006716366.1:p.Cys178Gly", "hgvsWellDefined": "XP_006716366.1:p.Cys178Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS071594" }, { "coordinates": [ { "allele": "G", "end": 791, "referenceAllele": "T", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716304.1:c.532T>G" ], "proteinEffect": { "hgvs": "XP_006716367.1:p.Cys178Gly", "hgvsWellDefined": "XP_006716367.1:p.Cys178Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS071595" }, { "coordinates": [ { "allele": "G", "end": 799, "referenceAllele": "T", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716305.2:c.532T>G" ], "proteinEffect": { "hgvs": "XP_006716368.1:p.Cys178Gly", "hgvsWellDefined": "XP_006716368.1:p.Cys178Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS071596" }, { "coordinates": [ { "allele": "G", "end": 1269, "referenceAllele": "T", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716306.2:c.526T>G" ], "proteinEffect": { "hgvs": "XP_006716369.1:p.Cys176Gly", "hgvsWellDefined": "XP_006716369.1:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS071597" }, { "coordinates": [ { "allele": "G", "end": 785, "referenceAllele": "T", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716307.1:c.526T>G" ], "proteinEffect": { "hgvs": "XP_006716370.1:p.Cys176Gly", "hgvsWellDefined": "XP_006716370.1:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS071598" }, { "coordinates": [ { "allele": "G", "end": 509, "referenceAllele": "T", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716309.2:c.508T>G" ], "proteinEffect": { "hgvs": "XP_006716372.1:p.Cys170Gly", "hgvsWellDefined": "XP_006716372.1:p.Cys170Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS071599" }, { "coordinates": [ { "allele": "G", "end": 1008, "referenceAllele": "T", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716310.2:c.265T>G" ], "proteinEffect": { "hgvs": "XP_006716373.1:p.Cys89Gly", "hgvsWellDefined": "XP_006716373.1:p.Cys89Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS071600" }, { "coordinates": [ { "allele": "G", "end": 406, "referenceAllele": "T", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716311.1:c.265T>G" ], "proteinEffect": { "hgvs": "XP_006716374.1:p.Cys89Gly", "hgvsWellDefined": "XP_006716374.1:p.Cys89Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS071601" }, { "coordinates": [ { "allele": "G", "end": 476, "referenceAllele": "T", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716312.1:c.265T>G" ], "proteinEffect": { "hgvs": "XP_006716375.1:p.Cys89Gly", "hgvsWellDefined": "XP_006716375.1:p.Cys89Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS071602" }, { "coordinates": [ { "allele": "G", "end": 1002, "referenceAllele": "T", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716313.2:c.259T>G" ], "proteinEffect": { "hgvs": "XP_006716376.1:p.Cys87Gly", "hgvsWellDefined": "XP_006716376.1:p.Cys87Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS071603" }, { "coordinates": [ { "allele": "G", "end": 480, "referenceAllele": "T", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716314.1:c.259T>G" ], "proteinEffect": { "hgvs": "XP_006716377.1:p.Cys87Gly", "hgvsWellDefined": "XP_006716377.1:p.Cys87Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS071604" }, { "coordinates": [ { "allele": "G", "end": 775, "referenceAllele": "T", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544443.1:c.631T>G" ], "proteinEffect": { "hgvs": "XP_011542745.1:p.Cys211Gly", "hgvsWellDefined": "XP_011542745.1:p.Cys211Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS111354" }, { "coordinates": [ { "allele": "G", "end": 769, "referenceAllele": "T", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544444.1:c.625T>G" ], "proteinEffect": { "hgvs": "XP_011542746.1:p.Cys209Gly", "hgvsWellDefined": "XP_011542746.1:p.Cys209Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS111355" }, { "coordinates": [ { "allele": "G", "end": 775, "referenceAllele": "T", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544445.1:c.631T>G" ], "proteinEffect": { "hgvs": "XP_011542747.1:p.Cys211Gly", "hgvsWellDefined": "XP_011542747.1:p.Cys211Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS111356" }, { "coordinates": [ { "allele": "G", "end": 775, "referenceAllele": "T", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544446.1:c.631T>G" ], "proteinEffect": { "hgvs": "XP_011542748.1:p.Cys211Gly", "hgvsWellDefined": "XP_011542748.1:p.Cys211Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS111357" }, { "coordinates": [ { "allele": "G", "end": 775, "referenceAllele": "T", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544447.1:c.631T>G" ], "proteinEffect": { "hgvs": "XP_011542749.1:p.Cys211Gly", "hgvsWellDefined": "XP_011542749.1:p.Cys211Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS111358" }, { "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "T", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544448.1:c.364T>G" ], "proteinEffect": { "hgvs": "XP_011542750.1:p.Cys122Gly", "hgvsWellDefined": "XP_011542750.1:p.Cys122Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS111359" }, { "coordinates": [ { "allele": "G", "end": 373, "referenceAllele": "T", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544449.1:c.358T>G" ], "proteinEffect": { "hgvs": "XP_011542751.1:p.Cys120Gly", "hgvsWellDefined": "XP_011542751.1:p.Cys120Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS111360" }, { "coordinates": [ { "allele": "G", "end": 373, "referenceAllele": "T", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544450.1:c.358T>G" ], "proteinEffect": { "hgvs": "XP_011542752.1:p.Cys120Gly", "hgvsWellDefined": "XP_011542752.1:p.Cys120Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS111361" }, { "coordinates": [ { "allele": "G", "end": 242, "referenceAllele": "T", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544451.1:c.241T>G" ], "proteinEffect": { "hgvs": "XP_011542753.1:p.Cys81Gly", "hgvsWellDefined": "XP_011542753.1:p.Cys81Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS111362" }, { "coordinates": [ { "allele": "G", "end": 769, "referenceAllele": "T", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544452.1:c.625T>G" ], "proteinEffect": { "hgvs": "XP_011542754.1:p.Cys209Gly", "hgvsWellDefined": "XP_011542754.1:p.Cys209Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS111363" }, { "@id": "http://reg.genome.network/allele/PA2827847042", "coordinates": [ { "allele": "G", "end": 1468, "referenceAllele": "T", "start": 1467 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354367.1:c.526T>G" ], "proteinEffect": { "hgvs": "NP_001341296.1:p.Cys176Gly", "hgvsWellDefined": "NP_001341296.1:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522356" }, { "@id": "http://reg.genome.network/allele/PA2827847506", "coordinates": [ { "allele": "G", "end": 1201, "referenceAllele": "T", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354368.1:c.259T>G" ], "proteinEffect": { "hgvs": "NP_001341297.1:p.Cys87Gly", "hgvsWellDefined": "NP_001341297.1:p.Cys87Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522357" }, { "@id": "http://reg.genome.network/allele/PA2827848110", "coordinates": [ { "allele": "G", "end": 788, "referenceAllele": "T", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354369.1:c.526T>G" ], "proteinEffect": { "hgvs": "NP_001341298.1:p.Cys176Gly", "hgvsWellDefined": "NP_001341298.1:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522358" }, { "@id": "http://reg.genome.network/allele/PA2827848581", "coordinates": [ { "allele": "G", "end": 1201, "referenceAllele": "T", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354370.1:c.259T>G" ], "proteinEffect": { "hgvs": "NP_001341299.1:p.Cys87Gly", "hgvsWellDefined": "NP_001341299.1:p.Cys87Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522359" }, { "coordinates": [ { "allele": "G", "end": 1181, "referenceAllele": "T", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716303.3:c.532T>G" ], "proteinEffect": { "hgvs": "XP_006716366.1:p.Cys178Gly", "hgvsWellDefined": "XP_006716366.1:p.Cys178Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS539145" }, { "coordinates": [ { "allele": "G", "end": 914, "referenceAllele": "T", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716310.3:c.265T>G" ], "proteinEffect": { "hgvs": "XP_006716373.1:p.Cys89Gly", "hgvsWellDefined": "XP_006716373.1:p.Cys89Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS539146" }, { "coordinates": [ { "allele": "G", "end": 527, "referenceAllele": "T", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716312.2:c.265T>G" ], "proteinEffect": { "hgvs": "XP_006716375.1:p.Cys89Gly", "hgvsWellDefined": "XP_006716375.1:p.Cys89Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS539147" }, { "coordinates": [ { "allele": "G", "end": 463, "referenceAllele": "T", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_006716314.2:c.259T>G" ], "proteinEffect": { "hgvs": "XP_006716377.1:p.Cys87Gly", "hgvsWellDefined": "XP_006716377.1:p.Cys87Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS539148" }, { "coordinates": [ { "allele": "G", "end": 780, "referenceAllele": "T", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544443.2:c.631T>G" ], "proteinEffect": { "hgvs": "XP_011542745.1:p.Cys211Gly", "hgvsWellDefined": "XP_011542745.1:p.Cys211Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS555669" }, { "coordinates": [ { "allele": "G", "end": 788, "referenceAllele": "T", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544445.2:c.631T>G" ], "proteinEffect": { "hgvs": "XP_011542747.1:p.Cys211Gly", "hgvsWellDefined": "XP_011542747.1:p.Cys211Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS555670" }, { "coordinates": [ { "allele": "G", "end": 775, "referenceAllele": "T", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544446.2:c.631T>G" ], "proteinEffect": { "hgvs": "XP_011542748.1:p.Cys211Gly", "hgvsWellDefined": "XP_011542748.1:p.Cys211Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS555671" }, { "coordinates": [ { "allele": "G", "end": 775, "referenceAllele": "T", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544447.2:c.631T>G" ], "proteinEffect": { "hgvs": "XP_011542749.1:p.Cys211Gly", "hgvsWellDefined": "XP_011542749.1:p.Cys211Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS555672" }, { "coordinates": [ { "allele": "G", "end": 373, "referenceAllele": "T", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544450.2:c.358T>G" ], "proteinEffect": { "hgvs": "XP_011542752.1:p.Cys120Gly", "hgvsWellDefined": "XP_011542752.1:p.Cys120Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS555673" }, { "coordinates": [ { "allele": "G", "end": 863, "referenceAllele": "T", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_011544452.2:c.625T>G" ], "proteinEffect": { "hgvs": "XP_011542754.1:p.Cys209Gly", "hgvsWellDefined": "XP_011542754.1:p.Cys209Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS555674" }, { "coordinates": [ { "allele": "G", "end": 776, "referenceAllele": "T", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013219.1:c.625T>G" ], "proteinEffect": { "hgvs": "XP_016868708.1:p.Cys209Gly", "hgvsWellDefined": "XP_016868708.1:p.Cys209Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS566584" }, { "coordinates": [ { "allele": "G", "end": 769, "referenceAllele": "T", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013220.1:c.625T>G" ], "proteinEffect": { "hgvs": "XP_016868709.1:p.Cys209Gly", "hgvsWellDefined": "XP_016868709.1:p.Cys209Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS566585" }, { "coordinates": [ { "allele": "G", "end": 984, "referenceAllele": "T", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013221.1:c.532T>G" ], "proteinEffect": { "hgvs": "XP_016868710.1:p.Cys178Gly", "hgvsWellDefined": "XP_016868710.1:p.Cys178Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS566586" }, { "coordinates": [ { "allele": "G", "end": 769, "referenceAllele": "T", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013222.2:c.532T>G" ], "proteinEffect": { "hgvs": "XP_016868711.1:p.Cys178Gly", "hgvsWellDefined": "XP_016868711.1:p.Cys178Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS566587" }, { "coordinates": [ { "allele": "G", "end": 1175, "referenceAllele": "T", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013224.2:c.526T>G" ], "proteinEffect": { "hgvs": "XP_016868713.1:p.Cys176Gly", "hgvsWellDefined": "XP_016868713.1:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS566588" }, { "coordinates": [ { "allele": "G", "end": 789, "referenceAllele": "T", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013225.2:c.526T>G" ], "proteinEffect": { "hgvs": "XP_016868714.1:p.Cys176Gly", "hgvsWellDefined": "XP_016868714.1:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS566589" }, { "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "T", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013226.1:c.364T>G" ], "proteinEffect": { "hgvs": "XP_016868715.1:p.Cys122Gly", "hgvsWellDefined": "XP_016868715.1:p.Cys122Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS566590" }, { "coordinates": [ { "allele": "G", "end": 373, "referenceAllele": "T", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013227.1:c.358T>G" ], "proteinEffect": { "hgvs": "XP_016868716.1:p.Cys120Gly", "hgvsWellDefined": "XP_016868716.1:p.Cys120Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS566591" }, { "coordinates": [ { "allele": "G", "end": 333, "referenceAllele": "T", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013230.1:c.-1669T>G" ], "proteinEffect": { "hgvs": "XP_016868719.1:n.-1669T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS566593" }, { "coordinates": [ { "allele": "G", "end": 873, "referenceAllele": "T", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_017013231.1:c.631T>G" ], "proteinEffect": { "hgvs": "XP_016868720.1:p.Cys211Gly", "hgvsWellDefined": "XP_016868720.1:p.Cys211Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS566594" }, { "coordinates": [ { "allele": "G", "end": 509, "referenceAllele": "T", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XM_024447097.1:c.508T>G" ], "proteinEffect": { "hgvs": "XP_024302865.1:p.Cys170Gly", "hgvsWellDefined": "XP_024302865.1:p.Cys170Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS580707" }, { "coordinates": [ { "allele": "G", "end": 780, "referenceAllele": "T", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XR_001745495.1:n.780T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594014" }, { "coordinates": [ { "allele": "G", "end": 780, "referenceAllele": "T", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "XR_001745496.1:n.780T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594015" }, { "@id": "http://reg.genome.network/allele/PA2826098401", "coordinates": [ { "allele": "G", "end": 1275, "referenceAllele": "T", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174063.2:c.532T>G" ], "proteinEffect": { "hgvs": "NP_001167534.1:p.Cys178Gly", "hgvsWellDefined": "NP_001167534.1:p.Cys178Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS678840" }, { "@id": "http://reg.genome.network/allele/PA2826099243", "coordinates": [ { "allele": "G", "end": 1343, "referenceAllele": "T", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174064.2:c.508T>G" ], "proteinEffect": { "hgvs": "NP_001167535.1:p.Cys170Gly", "hgvsWellDefined": "NP_001167535.1:p.Cys170Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS678841" }, { "@id": "http://reg.genome.network/allele/PA2826100029", "coordinates": [ { "allele": "G", "end": 667, "referenceAllele": "T", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174065.2:c.526T>G" ], "proteinEffect": { "hgvs": "NP_001167536.1:p.Cys176Gly", "hgvsWellDefined": "NP_001167536.1:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS678842" }, { "@id": "http://reg.genome.network/allele/PA2826100923", "coordinates": [ { "allele": "G", "end": 406, "referenceAllele": "T", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174066.2:c.265T>G" ], "proteinEffect": { "hgvs": "NP_001167537.1:p.Cys89Gly", "hgvsWellDefined": "NP_001167537.1:p.Cys89Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS678843" }, { "@id": "http://reg.genome.network/allele/PA2827847506", "coordinates": [ { "allele": "G", "end": 1002, "referenceAllele": "T", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354368.2:c.259T>G" ], "proteinEffect": { "hgvs": "NP_001341297.1:p.Cys87Gly", "hgvsWellDefined": "NP_001341297.1:p.Cys87Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690147" }, { "@id": "http://reg.genome.network/allele/PA2829853013", "coordinates": [ { "allele": "G", "end": 1269, "referenceAllele": "T", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_015850.4:c.526T>G" ], "proteinEffect": { "hgvs": "NP_056934.2:p.Cys176Gly", "hgvsWellDefined": "NP_056934.2:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS697614" }, { "@id": "http://reg.genome.network/allele/PA2741983137", "coordinates": [ { "allele": "G", "end": 1008, "referenceAllele": "T", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023105.3:c.265T>G" ], "proteinEffect": { "hgvs": "NP_075593.1:p.Cys89Gly", "hgvsWellDefined": "NP_075593.1:p.Cys89Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS698625" }, { "@id": "http://reg.genome.network/allele/PA2830018946", "coordinates": [ { "allele": "G", "end": 1002, "referenceAllele": "T", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023106.3:c.259T>G" ], "proteinEffect": { "hgvs": "NP_075594.1:p.Cys87Gly", "hgvsWellDefined": "NP_075594.1:p.Cys87Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS698626" }, { "@id": "http://reg.genome.network/allele/PA2830019624", "coordinates": [ { "allele": "G", "end": 1275, "referenceAllele": "T", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_023110.3:c.532T>G" ], "proteinEffect": { "hgvs": "NP_075598.2:p.Cys178Gly", "hgvsWellDefined": "NP_075598.2:p.Cys178Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS698627", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000447712.7:c.532T>G" }, "RefSeq": { "hgvs": "NM_023110.3:c.532T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000400162.2:p.Cys178Gly" }, "RefSeq": { "hgvs": "NP_075598.2:p.Cys178Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA2826101871", "coordinates": [ { "allele": "G", "end": 827, "referenceAllele": "T", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001174067.2:c.625T>G" ], "proteinEffect": { "hgvs": "NP_001167538.1:p.Cys209Gly", "hgvsWellDefined": "NP_001167538.1:p.Cys209Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS713491" }, { "@id": "http://reg.genome.network/allele/PA2827847042", "coordinates": [ { "allele": "G", "end": 1269, "referenceAllele": "T", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354367.2:c.526T>G" ], "proteinEffect": { "hgvs": "NP_001341296.1:p.Cys176Gly", "hgvsWellDefined": "NP_001341296.1:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS720435" }, { "@id": "http://reg.genome.network/allele/PA2827848110", "coordinates": [ { "allele": "G", "end": 667, "referenceAllele": "T", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354369.2:c.526T>G" ], "proteinEffect": { "hgvs": "NP_001341298.1:p.Cys176Gly", "hgvsWellDefined": "NP_001341298.1:p.Cys176Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS720436" }, { "@id": "http://reg.genome.network/allele/PA2827848581", "coordinates": [ { "allele": "G", "end": 1002, "referenceAllele": "T", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN003688", "geneNCBI_id": 2260, "geneSymbol": "FGFR1", "hgvs": [ "NM_001354370.2:c.259T>G" ], "proteinEffect": { "hgvs": "NP_001341299.1:p.Cys87Gly", "hgvsWellDefined": "NP_001341299.1:p.Cys87Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS720437" } ], "type": "nucleotide" }