{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2030222",
  "communityStandardTitle": [
    "NM_007315.4(STAT1):c.463-9T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1886038[alleleid]",
        "alleleId": 1886038,
        "preferredName": "NM_007315.4(STAT1):c.463-9T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2156366",
        "RCV": [
          "RCV003075424"
        ],
        "variationId": 2156366
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-191864439-A-C",
        "id": "2-191864439-A-C",
        "variant": "2:191864439 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.191864439A>C?assembly=hg19",
        "id": "chr2:g.191864439A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.190999713A>C?assembly=hg38",
        "id": "chr2:g.190999713A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757900421",
        "rs": 757900421
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-191864439-A-C?dataset=gnomad_r2_1",
        "id": "2-191864439-A-C",
        "variant": "2:191864439 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-190999713-A-C?dataset=gnomad_r3",
        "id": "2-190999713-A-C",
        "variant": "2:190999713 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-190999713-A-C?dataset=gnomad_r4",
        "id": "2-190999713-A-C",
        "variant": "2:190999713 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 190999713,
          "referenceAllele": "A",
          "start": 190999712
        }
      ],
      "hgvs": [
        "NC_000002.12:g.190999713A>C",
        "CM000664.2:g.190999713A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 191864439,
          "referenceAllele": "A",
          "start": 191864438
        }
      ],
      "hgvs": [
        "NC_000002.11:g.191864439A>C",
        "CM000664.1:g.191864439A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 191572684,
          "referenceAllele": "A",
          "start": 191572683
        }
      ],
      "hgvs": [
        "NC_000002.10:g.191572684A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19538,
          "referenceAllele": "T",
          "start": 19537
        }
      ],
      "hgvs": [
        "NG_008294.1:g.19538T>G",
        "LRG_111:g.19538T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 862,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 862,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000698141.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513582.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 758,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 758,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000698142.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513583.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 622,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 622,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000698143.1:n.623-9T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 754,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000698144.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513584.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909186"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 741,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 741,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000698145.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513585.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 697,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000698146.1:c.*213-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513586.1:n.*213-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000698147.1:n.790-9T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000698148.1:n.790-9T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909190"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 797,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 797,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000698149.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513587.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000698151.1:n.790-9T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 771,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000361099.8:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354394.4:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361099.8:c.463-9T>G"
          },
          "RefSeq": {
            "hgvs": "NM_007315.4:c.463-9T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354394.4:n.463-9T>G"
          },
          "RefSeq": {
            "hgvs": "NP_009330.1:n.463-9T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 828,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000415035.2:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388240.2:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 424,
          "endIntronDirection": "+",
          "endIntronOffset": 10163,
          "referenceAllele": "T",
          "start": 424,
          "startIntronDirection": "+",
          "startIntronOffset": 10162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000423282.2:c.128+10163T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388772.2:n.128+10163T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754970"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 671,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 671,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000424722.6:c.373-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402548.2:n.373-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 828,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000452281.6:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394512.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 677,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000540176.6:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438703.2:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 761,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000673638.1:n.762-9T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 760,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 760,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000673734.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501040.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773826"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 699,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 699,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000673777.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500982.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 828,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000673816.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501127.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 677,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000673841.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501225.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 828,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000673847.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501185.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773914"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 760,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 760,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000673858.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501196.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773921"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 761,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000673859.1:n.762-9T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773922"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 38,
          "endIntronDirection": "+",
          "endIntronOffset": 10163,
          "referenceAllele": "T",
          "start": 38,
          "startIntronDirection": "+",
          "startIntronOffset": 10162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000673863.1:c.38+10163T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501286.1:n.38+10163T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 828,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000673885.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501159.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 761,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000673942.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501145.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 828,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000673952.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501115.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 310,
          "endIntronDirection": "+",
          "endIntronOffset": 13808,
          "referenceAllele": "T",
          "start": 310,
          "startIntronDirection": "+",
          "startIntronOffset": 13807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000674028.1:n.310+13808T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 828,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000674080.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501164.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 828,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000674081.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501289.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 761,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000674153.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501120.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 850,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 850,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000361099.7:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354394.3:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265343"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 768,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000392322.7:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376136.3:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275029"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 880,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 880,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000392323.6:c.469-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376137.2:n.469-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000409465.5:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386244.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 657,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 657,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000424722.5:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402548.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 828,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000452281.5:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394512.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301558"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 850,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 850,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "ENST00000540176.5:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438703.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 850,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 850,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_007315.3:c.463-9T>G",
        "LRG_111t1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009330.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032222"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 850,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 850,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_139266.2:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_644671.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 643,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 643,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "XM_006712718.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712781.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 855,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 855,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "XM_017004783.2:c.469-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860272.1:n.469-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560209"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 855,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 855,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "XR_001738914.2:n.856-9T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 797,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 797,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "XR_001738915.2:n.798-9T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 771,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_007315.4:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009330.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361099.8:c.463-9T>G"
          },
          "RefSeq": {
            "hgvs": "NM_007315.4:c.463-9T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354394.4:n.463-9T>G"
          },
          "RefSeq": {
            "hgvs": "NP_009330.1:n.463-9T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 771,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_001384880.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371809.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723266"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 854,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 854,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_001384881.1:c.469-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371810.1:n.469-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 771,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_001384882.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371811.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723268"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "T",
          "start": 771,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_001384883.1:c.463-16T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371812.1:n.463-16T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723269"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 854,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 854,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_001384884.1:c.469-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371813.1:n.469-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 771,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_001384885.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371814.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 771,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_001384886.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371815.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 771,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_001384887.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371816.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 771,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_001384888.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371817.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 771,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_001384889.1:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371818.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 681,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_001384890.1:c.373-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371819.1:n.373-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723276"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 807,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 807,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_001384891.1:c.499-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371820.1:n.499-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723277"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 771,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 771,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NM_139266.3:c.463-9T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_644671.1:n.463-9T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729225"
    }
  ],
  "type": "nucleotide"
}