{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA179474815",
  "communityStandardTitle": [
    "NM_000503.6(EYA1):c.-54-1336A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.72270082T>C?assembly=hg19",
        "id": "chr8:g.72270082T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.71357847T>C?assembly=hg38",
        "id": "chr8:g.71357847T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7006821",
        "rs": 7006821
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-72270082-T-C?dataset=gnomad_r2_1",
        "id": "8-72270082-T-C",
        "variant": "8:72270082 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-71357847-T-C?dataset=gnomad_r3",
        "id": "8-71357847-T-C",
        "variant": "8:71357847 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-71357847-T-C?dataset=gnomad_r4",
        "id": "8-71357847-T-C",
        "variant": "8:71357847 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 71357847,
          "referenceAllele": "T",
          "start": 71357846
        }
      ],
      "hgvs": [
        "NC_000008.11:g.71357847T>C",
        "CM000670.2:g.71357847T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 72270082,
          "referenceAllele": "T",
          "start": 72270081
        }
      ],
      "hgvs": [
        "NC_000008.10:g.72270082T>C",
        "CM000670.1:g.72270082T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 72432636,
          "referenceAllele": "T",
          "start": 72432635
        }
      ],
      "hgvs": [
        "NC_000008.9:g.72432636T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9386,
          "referenceAllele": "A",
          "start": 9385
        }
      ],
      "hgvs": [
        "NG_011735.2:g.9386A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 195284,
          "referenceAllele": "A",
          "start": 195283
        }
      ],
      "hgvs": [
        "NG_011735.3:g.195284A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616149"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 423,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000340726.8:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342626.3:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747927",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340726.8:c.-54-1336A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000503.6:c.-54-1336A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342626.3:n.-54-1336A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000494.2:n.-54-1336A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 490,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388741.7:c.-25-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373393.2:n.-25-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 85,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000465115.6:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428391.1:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 378,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 378,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000643681.1:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495390.1:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 238,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 238,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000644229.1:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494568.1:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767712"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 297,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 297,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000644712.1:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496188.1:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 294,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 294,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000645451.1:c.-25-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494888.1:n.-25-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 592,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 592,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000645793.1:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496255.1:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 291,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 291,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000647540.1:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494438.1:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 214,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 214,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000303824.11:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303221.7:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 586,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000340726.7:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342626.3:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 490,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388741.6:c.-25-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373393.2:n.-25-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274065"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 85,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000465115.5:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428391.1:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 586,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_000503.5:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000494.2:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006557"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 586,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288574.1:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275503.1:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 586,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288575.1:c.-338-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275504.1:n.-338-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023478"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 130,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 130,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517481.1:c.22-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515783.1:n.22-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 166,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 166,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517482.1:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515784.1:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 322,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 322,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517485.1:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515787.1:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1172,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 1172,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517486.1:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515788.1:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517487.1:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515789.1:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 452,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 452,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517488.1:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515790.1:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 351,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 351,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517489.1:c.12-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515791.1:n.12-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 483,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 483,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517490.1:c.-25-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515792.1:n.-25-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 322,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 322,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517491.1:c.-25-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515793.1:n.-25-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 248,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 248,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172059.4:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_742056.2:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3551,
          "referenceAllele": "A",
          "start": 3550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517483.2:c.-1390A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515785.1:n.-1390A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544551"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 345,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517484.3:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515786.2:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 372,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013201.1:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868690.1:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 216,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013202.1:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868691.1:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 345,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013203.2:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868692.1:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 346,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 346,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013204.2:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868693.1:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 345,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013205.2:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868694.1:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 325,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 325,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013206.1:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868695.1:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 344,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 344,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013207.2:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868696.1:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 452,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 452,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013208.2:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868697.1:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 346,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 346,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013210.2:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868699.1:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 343,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013211.2:c.12-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868700.1:n.12-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 606,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013212.2:c.-25-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868701.1:n.-25-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3753,
          "referenceAllele": "A",
          "start": 3752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013213.1:c.-1674A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868702.1:n.-1674A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 423,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_000503.6:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000494.2:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662465",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340726.8:c.-54-1336A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000503.6:c.-54-1336A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342626.3:n.-54-1336A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000494.2:n.-54-1336A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 423,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288574.2:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275503.1:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 423,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288575.2:c.-338-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275504.1:n.-338-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 336,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 336,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370333.1:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357262.1:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 369,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 369,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370334.1:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357263.1:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 625,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 625,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370335.1:c.-54-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357264.1:n.-54-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 336,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 336,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370336.1:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357265.1:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692343"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 295,
          "endIntronDirection": "-",
          "endIntronOffset": 1335,
          "referenceAllele": "A",
          "start": 295,
          "startIntronDirection": "-",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172059.5:c.34-1336A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_742056.2:n.34-1336A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700464"
    }
  ],
  "type": "nucleotide"
}