{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7287955",
  "communityStandardTitle": [
    "NM_001193315.2(VIPAS39):c.808C>T (p.Arg270Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2737805[alleleid]",
        "alleleId": 2737805,
        "preferredName": "NM_001193315.2(VIPAS39):c.808C>T (p.Arg270Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2572863",
        "RCV": [
          "RCV003314977",
          "RCV003984871",
          "RCV004017979"
        ],
        "variationId": 2572863
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-77904179-G-A",
        "id": "14-77904179-G-A",
        "variant": "14:77904179 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.77904179G>A?assembly=hg19",
        "id": "chr14:g.77904179G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.77437836G>A?assembly=hg38",
        "id": "chr14:g.77437836G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755556421",
        "rs": 755556421
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-77904179-G-A?dataset=gnomad_r2_1",
        "id": "14-77904179-G-A",
        "variant": "14:77904179 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-77437836-G-A?dataset=gnomad_r3",
        "id": "14-77437836-G-A",
        "variant": "14:77437836 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-77437836-G-A?dataset=gnomad_r4",
        "id": "14-77437836-G-A",
        "variant": "14:77437836 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 77437836,
          "referenceAllele": "G",
          "start": 77437835
        }
      ],
      "hgvs": [
        "NC_000014.9:g.77437836G>A",
        "CM000676.2:g.77437836G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 77904179,
          "referenceAllele": "G",
          "start": 77904178
        }
      ],
      "hgvs": [
        "NC_000014.8:g.77904179G>A",
        "CM000676.1:g.77904179G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 76973932,
          "referenceAllele": "G",
          "start": 76973931
        }
      ],
      "hgvs": [
        "NC_000014.7:g.76973932G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24805,
          "referenceAllele": "C",
          "start": 24804
        }
      ],
      "hgvs": [
        "NG_023421.1:g.24805C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24805,
          "referenceAllele": "C",
          "start": 24804
        }
      ],
      "hgvs": [
        "NG_023421.2:g.24805C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733349"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "ENST00000557658.6:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452191.1:p.Arg270Ter",
        "hgvsWellDefined": "ENSP00000452191.1:p.Arg270_Asn493delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760216",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000557658.6:c.808C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001193315.2:c.808C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452191.1:p.Arg270Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001180244.1:p.Arg270Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 999,
          "referenceAllele": "C",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "ENST00000327028.8:c.661C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313098.5:p.Arg221Ter",
        "hgvsWellDefined": "ENSP00000313098.5:p.Arg221_Asn444delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "C",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "ENST00000343765.6:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339122.2:p.Arg270Ter",
        "hgvsWellDefined": "ENSP00000339122.2:p.Arg270_Asn493delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 753,
          "referenceAllele": "C",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "ENST00000448935.6:c.661C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404815.2:p.Arg221Ter",
        "hgvsWellDefined": "ENSP00000404815.2:p.Arg221_Asn444delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 220,
          "referenceAllele": "C",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "ENST00000553576.5:n.220C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "C",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "ENST00000553691.5:n.778C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "ENST00000553888.5:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452181.1:p.Arg270Ter",
        "hgvsWellDefined": "ENSP00000452181.1:p.Arg270_Asn493delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1056,
          "referenceAllele": "C",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "ENST00000556412.4:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451857.1:p.Arg296Ter",
        "hgvsWellDefined": "ENSP00000451857.1:p.Arg296_Asn519delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 954,
          "referenceAllele": "C",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "ENST00000557658.5:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452191.1:p.Arg270Ter",
        "hgvsWellDefined": "ENSP00000452191.1:p.Arg270_Asn493delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826178068",
      "coordinates": [
        {
          "allele": "T",
          "end": 1354,
          "referenceAllele": "C",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001193314.1:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180243.1:p.Arg270Ter",
        "hgvsWellDefined": "NP_001180243.1:p.Arg270_Asn493delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016344"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826178191",
      "coordinates": [
        {
          "allele": "T",
          "end": 954,
          "referenceAllele": "C",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001193315.1:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180244.1:p.Arg270Ter",
        "hgvsWellDefined": "NP_001180244.1:p.Arg270_Asn493delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826178302",
      "coordinates": [
        {
          "allele": "T",
          "end": 807,
          "referenceAllele": "C",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001193316.1:c.661C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180245.1:p.Arg221Ter",
        "hgvsWellDefined": "NP_001180245.1:p.Arg221_Asn444delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826178430",
      "coordinates": [
        {
          "allele": "T",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001193317.1:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180246.1:p.Arg270Ter",
        "hgvsWellDefined": "NP_001180246.1:p.Arg270_Asn493delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741974188",
      "coordinates": [
        {
          "allele": "T",
          "end": 1225,
          "referenceAllele": "C",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_022067.3:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071350.2:p.Arg270Ter",
        "hgvsWellDefined": "NP_071350.2:p.Arg270_Asn493delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 852,
          "referenceAllele": "C",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "XM_011537066.1:c.715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535368.1:p.Arg239Ter",
        "hgvsWellDefined": "XP_011535368.1:p.Arg239_Asn462delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 839,
          "referenceAllele": "C",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "XM_011537066.2:c.715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535368.1:p.Arg239Ter",
        "hgvsWellDefined": "XP_011535368.1:p.Arg239_Asn462delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 930,
          "referenceAllele": "C",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "XM_017021580.2:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877069.1:p.Arg270Ter",
        "hgvsWellDefined": "XP_016877069.1:p.Arg270_Ser409delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAlaAsnThrValLysSerLeuMetGlySerPheProAspLeuProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1312,
          "referenceAllele": "C",
          "start": 1311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "XM_017021581.2:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877070.1:p.Arg270Ter",
        "hgvsWellDefined": "XP_016877070.1:p.Arg270_Ser409delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAlaAsnThrValLysSerLeuMetGlySerPheProAspLeuProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "XM_024449688.1:c.715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305456.1:p.Arg239Ter",
        "hgvsWellDefined": "XP_024305456.1:p.Arg239_Asn462delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 930,
          "referenceAllele": "C",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "XR_001750501.2:n.930C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826178068",
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001193314.2:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180243.1:p.Arg270Ter",
        "hgvsWellDefined": "NP_001180243.1:p.Arg270_Asn493delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679192"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826178302",
      "coordinates": [
        {
          "allele": "T",
          "end": 768,
          "referenceAllele": "C",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001193316.2:c.661C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180245.1:p.Arg221Ter",
        "hgvsWellDefined": "NP_001180245.1:p.Arg221_Asn444delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679193"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826178430",
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "referenceAllele": "C",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001193317.2:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180246.1:p.Arg270Ter",
        "hgvsWellDefined": "NP_001180246.1:p.Arg270_Asn493delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679194"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741974188",
      "coordinates": [
        {
          "allele": "T",
          "end": 1186,
          "referenceAllele": "C",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_022067.4:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071350.2:p.Arg270Ter",
        "hgvsWellDefined": "NP_071350.2:p.Arg270_Asn493delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826178191",
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001193315.2:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180244.1:p.Arg270Ter",
        "hgvsWellDefined": "NP_001180244.1:p.Arg270_Asn493delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713725",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000557658.6:c.808C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001193315.2:c.808C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452191.1:p.Arg270Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001180244.1:p.Arg270Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829299623",
      "coordinates": [
        {
          "allele": "T",
          "end": 1039,
          "referenceAllele": "C",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400324.1:c.661C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387253.1:p.Arg221Ter",
        "hgvsWellDefined": "NP_001387253.1:p.Arg221_Asn444delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783676"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829299682",
      "coordinates": [
        {
          "allele": "T",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400325.1:c.661C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387254.1:p.Arg221Ter",
        "hgvsWellDefined": "NP_001387254.1:p.Arg221_Asn444delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829299749",
      "coordinates": [
        {
          "allele": "T",
          "end": 1234,
          "referenceAllele": "C",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400326.1:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387255.1:p.Arg270Ter",
        "hgvsWellDefined": "NP_001387255.1:p.Arg270_Asn493delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829299814",
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400327.1:c.775C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387256.1:p.Arg259Ter",
        "hgvsWellDefined": "NP_001387256.1:p.Arg259_Asn482delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829300063",
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400330.1:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387259.1:p.Arg270Ter",
        "hgvsWellDefined": "NP_001387259.1:p.Arg270_Asn464delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829300127",
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400331.1:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387260.1:p.Arg270Ter",
        "hgvsWellDefined": "NP_001387260.1:p.Arg270_Asn464delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829300191",
      "coordinates": [
        {
          "allele": "T",
          "end": 1186,
          "referenceAllele": "C",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400332.1:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387261.1:p.Arg270Ter",
        "hgvsWellDefined": "NP_001387261.1:p.Arg270_Asn464delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829300253",
      "coordinates": [
        {
          "allele": "T",
          "end": 822,
          "referenceAllele": "C",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400333.1:c.715C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387262.1:p.Arg239Ter",
        "hgvsWellDefined": "NP_001387262.1:p.Arg239_Asn462delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829300318",
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400334.1:c.715C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387263.1:p.Arg239Ter",
        "hgvsWellDefined": "NP_001387263.1:p.Arg239_Asn462delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829300385",
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400335.1:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387264.1:p.Arg270Ter",
        "hgvsWellDefined": "NP_001387264.1:p.Arg270_Asn458delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829300448",
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400336.1:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387265.1:p.Arg270Ter",
        "hgvsWellDefined": "NP_001387265.1:p.Arg270_Asn448delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829300496",
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "C",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400337.1:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387266.1:p.Arg190Ter",
        "hgvsWellDefined": "NP_001387266.1:p.Arg190_Asn413delinsLysGluPheLeuLysThrCysValGlyLeuProPheSerAlaGluAspSerAlaHisIleGlnAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 841,
          "endIntronDirection": "-",
          "endIntronOffset": 1916,
          "referenceAllele": "C",
          "start": 841,
          "startIntronDirection": "-",
          "startIntronOffset": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400338.1:c.735-1917C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387267.1:n.735-1917C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "endIntronDirection": "+",
          "endIntronOffset": 3230,
          "referenceAllele": "C",
          "start": 869,
          "startIntronDirection": "+",
          "startIntronOffset": 3229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NM_001400339.1:c.762+3230C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387268.1:n.762+3230C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NR_174476.1:n.915C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784919"
    }
  ],
  "type": "nucleotide"
}