{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1565569219",
  "communityStandardTitle": [
    "NM_001750.7(CAST):c.1834-83T>A"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/27980",
        "rs": 27980
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-96762191-T-A?dataset=gnomad_r3",
        "id": "5-96762191-T-A",
        "variant": "5:96762191 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-96762191-T-A?dataset=gnomad_r4",
        "id": "5-96762191-T-A",
        "variant": "5:96762191 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 96762191,
          "referenceAllele": "T",
          "start": 96762190
        }
      ],
      "hgvs": [
        "NC_000005.10:g.96762191T>A",
        "CM000667.2:g.96762191T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 96097895,
          "referenceAllele": "T",
          "start": 96097894
        }
      ],
      "hgvs": [
        "NC_000005.9:g.96097895T>A",
        "CM000667.1:g.96097895T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 96123651,
          "referenceAllele": "T",
          "start": 96123650
        }
      ],
      "hgvs": [
        "NC_000005.8:g.96123651T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56954,
          "referenceAllele": "A",
          "start": 56953
        }
      ],
      "hgvs": [
        "NG_027839.1:g.56954A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 105155,
          "referenceAllele": "T",
          "start": 105154
        }
      ],
      "hgvs": [
        "NG_029490.1:g.105155T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 178793,
          "referenceAllele": "A",
          "start": 178792
        }
      ],
      "hgvs": [
        "NG_027839.2:g.178793A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 105155,
          "referenceAllele": "T",
          "start": 105154
        }
      ],
      "hgvs": [
        "NG_029490.2:g.105155T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673786"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 811,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 811,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000484552.6:c.754-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432878.2:n.754-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1795,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1795,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000508608.6:c.1684-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422677.2:n.1684-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1703,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1703,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000510756.6:c.1462-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422176.2:n.1462-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1439,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1439,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000674587.1:c.1291-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501797.1:n.1291-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1668,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1668,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000674702.1:c.1576-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502345.1:n.1576-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1767,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1767,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000674984.1:c.1768-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501713.1:n.1768-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1715,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1715,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000675033.1:c.1462-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501659.1:n.1462-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1880,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1880,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000675179.1:c.1834-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501872.1:n.1834-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775040",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675179.1:c.1834-83T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001750.7:c.1834-83T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501872.1:n.1834-83T>A"
          },
          "RefSeq": {
            "hgvs": "NP_001741.4:n.1834-83T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 214,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000675185.1:c.215-83T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1735,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1735,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000675266.1:c.1736-83T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775109"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1896,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1896,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000675267.1:c.*1458-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502095.1:n.*1458-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 550,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000675275.1:c.551-83T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1752,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1752,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000675479.1:c.1447-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502244.1:n.1447-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1759,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1759,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000675614.1:c.1504-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502136.1:n.1504-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1855,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1855,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000675663.1:c.1723-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502449.1:n.1723-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 377,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 377,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000675734.1:n.378-83T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1532,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1532,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000675858.1:c.1378-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501780.1:n.1378-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4114,
          "referenceAllele": "A",
          "start": 4113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "ENST00000296754.7:c.*1009A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296754.3:n.*1009A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1672,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1672,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000309190.9:c.1519-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312523.5:n.1519-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 753,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000325674.11:c.754-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320319.8:n.754-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1812,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1812,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000338252.7:c.1546-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343421.3:n.1546-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1746,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1746,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000341926.7:c.1585-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339914.3:n.1585-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1526,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1526,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000348386.7:n.1527-83T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS262467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1896,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1896,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000395812.6:c.1711-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379157.2:n.1711-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1750,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1750,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000395813.5:c.1585-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379158.2:n.1585-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 839,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 839,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000437034.6:c.840-83T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS294268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 811,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 811,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000484552.5:c.812-83T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1517,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000504465.5:c.1369-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425670.1:n.1369-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336519"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1018,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000508579.5:c.730-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425787.1:n.730-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1806,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1806,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000508608.5:c.1723-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422677.1:n.1723-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1996,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1996,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000508830.5:c.1834-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425721.1:n.1834-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1628,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1628,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000509903.5:c.1480-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426946.1:n.1480-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 69,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 69,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000510098.1:c.70-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427195.1:n.70-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1737,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1737,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000510156.5:c.1585-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422325.1:n.1585-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 856,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 856,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000510500.5:c.857-83T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1767,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1767,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000510756.5:c.1768-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422176.1:n.1768-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1779,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1779,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000511049.5:c.1543-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421130.1:n.1543-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1753,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1753,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000511782.5:c.1543-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423638.1:n.1543-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341973"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "ENST00000515663.5:c.754-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422929.1:n.754-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1976,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1976,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001042440.3:c.1711-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035905.1:n.1711-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1848,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1848,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001190442.1:c.1546-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177371.1:n.1546-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1578,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1578,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001284212.1:c.1462-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271141.1:n.1462-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1517,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001284213.1:c.1369-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271142.1:n.1369-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4203,
          "referenceAllele": "A",
          "start": 4202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_016442.3:c.*1009A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057526.3:n.*1009A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1684,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1684,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_173060.3:c.1519-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775083.1:n.1519-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NR_104285.1:n.841-83T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1990,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1990,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714696.2:c.1834-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714759.1:n.1834-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2007,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 2007,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714697.2:c.1834-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714760.1:n.1834-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1968,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1968,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714698.2:c.1795-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714761.1:n.1795-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1899,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1899,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714699.2:c.1789-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714762.1:n.1789-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070797"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1950,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1950,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714700.2:c.1777-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714763.1:n.1777-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070798"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1951,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1951,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714701.2:c.1768-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714764.1:n.1768-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1842,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1842,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714702.2:c.1732-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714765.1:n.1732-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1912,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1912,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714703.2:c.1729-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714766.1:n.1729-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1833,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1833,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714704.2:c.1723-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714767.1:n.1723-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070802"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1884,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1884,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714705.2:c.1711-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714768.1:n.1711-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070803"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1802,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1802,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714706.2:c.1666-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714769.1:n.1666-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1745,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1745,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714707.2:c.1585-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714770.1:n.1585-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1706,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1706,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714708.2:c.1546-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714771.1:n.1546-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1676,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714709.2:c.1528-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714772.1:n.1528-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1631,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1631,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714710.2:c.1480-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714773.1:n.1480-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1622,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1622,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714711.2:c.1462-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714774.1:n.1462-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1583,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1583,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714712.2:c.1423-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714775.1:n.1423-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714713.2:c.754-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714776.1:n.754-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714714.2:c.754-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714777.1:n.754-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 995,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 995,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_006714715.2:c.730-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714778.1:n.730-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1926,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1926,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_011543654.1:c.1753-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541956.1:n.1753-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1923,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1923,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_011543655.1:c.1750-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541957.1:n.1750-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1870,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1870,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_011543656.1:c.1687-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541958.1:n.1687-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1752,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1752,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_011543657.1:c.1642-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541959.1:n.1642-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1598,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1598,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "XM_011543658.1:c.1438-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541960.1:n.1438-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1976,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1976,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001042440.4:c.1711-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035905.1:n.1711-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2042,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 2042,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001042441.2:c.1777-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035906.1:n.1777-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1967,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1967,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001042442.2:c.1768-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035907.1:n.1768-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1879,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1879,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001042443.2:c.1585-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035908.1:n.1585-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1756,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1756,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001042444.2:c.1462-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035909.1:n.1462-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1774,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1774,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001042445.2:c.1480-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035910.1:n.1480-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1717,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1717,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001042446.2:c.1423-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035911.1:n.1423-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1756,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1756,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001284212.3:c.1462-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271141.1:n.1462-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1663,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1663,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001284213.3:c.1369-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271142.1:n.1369-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2003,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 2003,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330626.1:c.1738-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317555.1:n.1738-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1976,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1976,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330627.1:c.1711-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317556.1:n.1711-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1823,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330628.1:c.1666-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317557.1:n.1666-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1907,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1907,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330629.1:c.1750-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317558.1:n.1750-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516970"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1717,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1717,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330630.1:c.1423-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317559.1:n.1423-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1840,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1840,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330631.1:c.1546-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317560.1:n.1546-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1813,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1813,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330632.1:c.1519-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317561.1:n.1519-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516973"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1822,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1822,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330633.1:c.1528-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317562.1:n.1528-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1783,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1783,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330634.1:c.1489-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317563.1:n.1489-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516975"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4199,
          "referenceAllele": "A",
          "start": 4198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001349244.1:c.*1009A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336173.1:n.*1009A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2099,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 2099,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001750.6:c.1834-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001741.4:n.1834-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4203,
          "referenceAllele": "A",
          "start": 4202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_016442.4:c.*1009A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057526.3:n.*1009A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1813,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1813,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_173060.4:c.1519-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775083.1:n.1519-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3994,
          "referenceAllele": "A",
          "start": 3993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XR_001742119.2:n.3994A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1757,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1757,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001042440.5:c.1711-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035905.1:n.1711-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1823,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1823,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001042441.3:c.1777-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035906.1:n.1777-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1814,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1814,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001042442.3:c.1768-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035907.1:n.1768-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1784,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1784,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330626.2:c.1738-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317555.1:n.1738-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1757,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1757,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330627.2:c.1711-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317556.1:n.1711-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1777,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1777,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330628.2:c.1666-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317557.1:n.1666-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1861,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1861,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330629.2:c.1750-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317558.1:n.1750-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1834,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1834,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001375317.1:c.1723-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362246.1:n.1723-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693465"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1880,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1880,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001750.7:c.1834-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001741.4:n.1834-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695358",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675179.1:c.1834-83T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001750.7:c.1834-83T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501872.1:n.1834-83T>A"
          },
          "RefSeq": {
            "hgvs": "NP_001741.4:n.1834-83T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 778,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NR_104285.2:n.779-83T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1733,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1733,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001042443.3:c.1585-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035908.1:n.1585-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1610,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1610,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001042444.3:c.1462-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035909.1:n.1462-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1628,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1628,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001042445.3:c.1480-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035910.1:n.1480-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1571,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1571,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001042446.3:c.1423-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035911.1:n.1423-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1848,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1848,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001190442.2:c.1546-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177371.1:n.1546-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1610,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1610,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001284212.4:c.1462-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271141.1:n.1462-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1517,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001284213.4:c.1369-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271142.1:n.1369-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1571,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1571,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330630.2:c.1423-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317559.1:n.1423-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718732"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1694,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1694,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330631.2:c.1546-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317560.1:n.1546-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1667,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1667,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330632.2:c.1519-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317561.1:n.1519-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1676,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330633.2:c.1528-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317562.1:n.1528-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1637,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1637,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_001330634.2:c.1489-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317563.1:n.1489-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3955,
          "referenceAllele": "A",
          "start": 3954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001349244.2:c.*1009A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336173.1:n.*1009A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3959,
          "referenceAllele": "A",
          "start": 3958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_016442.5:c.*1009A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057526.3:n.*1009A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1667,
          "endIntronDirection": "-",
          "endIntronOffset": 82,
          "referenceAllele": "T",
          "start": 1667,
          "startIntronDirection": "-",
          "startIntronOffset": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001515",
      "geneNCBI_id": 831,
      "geneSymbol": "CAST",
      "hgvs": [
        "NM_173060.5:c.1519-83T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775083.1:n.1519-83T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729557"
    }
  ],
  "type": "nucleotide"
}