{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7789585",
  "communityStandardTitle": [
    "NM_001378030.1(CCDC78):c.468T>G (p.Asn156Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=466740[alleleid]",
        "alleleId": 466740,
        "preferredName": "NM_001378030.1(CCDC78):c.468T>G (p.Asn156Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/473259",
        "RCV": [
          "RCV000537626",
          "RCV003156257"
        ],
        "variationId": 473259
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-775261-A-C",
        "id": "16-775261-A-C",
        "variant": "16:775261 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.775261A>C?assembly=hg19",
        "id": "chr16:g.775261A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.725261A>C?assembly=hg38",
        "id": "chr16:g.725261A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370998388",
        "rs": 370998388
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-775261-A-C?dataset=gnomad_r2_1",
        "id": "16-775261-A-C",
        "variant": "16:775261 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-725261-A-C?dataset=gnomad_r3",
        "id": "16-725261-A-C",
        "variant": "16:725261 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-725261-A-C?dataset=gnomad_r4",
        "id": "16-725261-A-C",
        "variant": "16:725261 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 725261,
          "referenceAllele": "A",
          "start": 725260
        }
      ],
      "hgvs": [
        "NC_000016.10:g.725261A>C",
        "CM000678.2:g.725261A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 775261,
          "referenceAllele": "A",
          "start": 775260
        }
      ],
      "hgvs": [
        "NC_000016.9:g.775261A>C",
        "CM000678.1:g.775261A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 715262,
          "referenceAllele": "A",
          "start": 715261
        }
      ],
      "hgvs": [
        "NC_000016.8:g.715262A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6213,
          "referenceAllele": "T",
          "start": 6212
        }
      ],
      "hgvs": [
        "NG_032932.1:g.6213T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005292"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "referenceAllele": "T",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000423653.6:n.513T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824736"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 557,
          "referenceAllele": "T",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000682391.1:n.557T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000345165.10:c.468T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316851.5:p.Asn156Lys",
        "hgvsWellDefined": "ENSP00000316851.5:p.Asn156Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748280",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345165.10:c.468T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001378030.1:c.468T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316851.5:p.Asn156Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001364959.1:p.Asn156Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 574,
          "referenceAllele": "T",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000293889.10:c.468T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293889.6:p.Asn156Lys",
        "hgvsWellDefined": "ENSP00000293889.6:p.Asn156Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14,
          "referenceAllele": "T",
          "start": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000345165.8:c.14T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS262144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 466,
          "referenceAllele": "T",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000423653.5:c.15T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458590.1:p.Asn5Lys",
        "hgvsWellDefined": "ENSP00000458590.1:p.Asn5Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287871"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "T",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000439619.6:n.545T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS295512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 435,
          "referenceAllele": "T",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000460023.5:n.435T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "referenceAllele": "T",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000463539.5:n.531T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000466708.5:n.641T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 574,
          "referenceAllele": "T",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000471861.5:n.574T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 368,
          "referenceAllele": "T",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000474647.1:n.368T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "referenceAllele": "T",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000478979.5:n.376T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "referenceAllele": "T",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000481804.5:n.876T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "T",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000482878.5:n.779T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 530,
          "referenceAllele": "T",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000485091.5:n.530T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 538,
          "referenceAllele": "T",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000538176.5:n.538T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361179"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "T",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000544996.1:n.274T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 42,
          "endIntronDirection": "-",
          "endIntronOffset": 37370,
          "referenceAllele": "A",
          "start": 42,
          "startIntronDirection": "-",
          "startIntronOffset": 37371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007371",
      "geneNCBI_id": 10232,
      "geneSymbol": "MSLN",
      "hgvs": [
        "ENST00000620831.4:c.-49-37371A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482893.1:n.-49-37371A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658676805",
      "coordinates": [
        {
          "allele": "G",
          "end": 574,
          "referenceAllele": "T",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NM_001031737.2:c.468T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026907.2:p.Asn156Lys",
        "hgvsWellDefined": "NP_001026907.2:p.Asn156Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "referenceAllele": "T",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_005255106.3:c.435T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255163.1:p.Asn145Lys",
        "hgvsWellDefined": "XP_005255163.1:p.Asn145Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "T",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_006720838.1:c.690T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720901.1:p.Asn230Lys",
        "hgvsWellDefined": "XP_006720901.1:p.Asn230Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 822,
          "referenceAllele": "T",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_006720843.2:c.468T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720906.1:p.Asn156Lys",
        "hgvsWellDefined": "XP_006720906.1:p.Asn156Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "referenceAllele": "T",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522356.1:c.903T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520658.1:p.Asn301Lys",
        "hgvsWellDefined": "XP_011520658.1:p.Asn301Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "referenceAllele": "T",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522357.1:c.903T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520659.1:p.Asn301Lys",
        "hgvsWellDefined": "XP_011520659.1:p.Asn301Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "referenceAllele": "T",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522358.1:c.903T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520660.1:p.Asn301Lys",
        "hgvsWellDefined": "XP_011520660.1:p.Asn301Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 959,
          "referenceAllele": "T",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522359.1:c.870T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520661.1:p.Asn290Lys",
        "hgvsWellDefined": "XP_011520661.1:p.Asn290Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 959,
          "referenceAllele": "T",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522360.1:c.870T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520662.1:p.Asn290Lys",
        "hgvsWellDefined": "XP_011520662.1:p.Asn290Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "referenceAllele": "T",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522361.1:c.903T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520663.1:p.Asn301Lys",
        "hgvsWellDefined": "XP_011520663.1:p.Asn301Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "referenceAllele": "T",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522362.1:c.903T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520664.1:p.Asn301Lys",
        "hgvsWellDefined": "XP_011520664.1:p.Asn301Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "referenceAllele": "T",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522363.1:c.903T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520665.1:p.Asn301Lys",
        "hgvsWellDefined": "XP_011520665.1:p.Asn301Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089516"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "referenceAllele": "T",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522364.1:c.903T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520666.1:p.Asn301Lys",
        "hgvsWellDefined": "XP_011520666.1:p.Asn301Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089517"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "T",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522365.1:c.690T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520667.1:p.Asn230Lys",
        "hgvsWellDefined": "XP_011520667.1:p.Asn230Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 757,
          "referenceAllele": "T",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522366.1:c.681T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520668.1:p.Asn227Lys",
        "hgvsWellDefined": "XP_011520668.1:p.Asn227Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089519"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "referenceAllele": "T",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522367.1:c.522T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520669.1:p.Asn174Lys",
        "hgvsWellDefined": "XP_011520669.1:p.Asn174Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "referenceAllele": "T",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522368.1:c.522T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520670.1:p.Asn174Lys",
        "hgvsWellDefined": "XP_011520670.1:p.Asn174Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 557,
          "referenceAllele": "T",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522369.1:c.468T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520671.1:p.Asn156Lys",
        "hgvsWellDefined": "XP_011520671.1:p.Asn156Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "referenceAllele": "T",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522370.1:c.300T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520672.1:p.Asn100Lys",
        "hgvsWellDefined": "XP_011520672.1:p.Asn100Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 381,
          "referenceAllele": "T",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522371.1:c.15T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520673.1:p.Asn5Lys",
        "hgvsWellDefined": "XP_011520673.1:p.Asn5Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089524"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_006720843.4:c.468T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720906.1:p.Asn156Lys",
        "hgvsWellDefined": "XP_006720906.1:p.Asn156Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "referenceAllele": "T",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522358.2:c.903T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520660.1:p.Asn301Lys",
        "hgvsWellDefined": "XP_011520660.1:p.Asn301Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546565"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 368,
          "referenceAllele": "T",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522371.2:c.15T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520673.1:p.Asn5Lys",
        "hgvsWellDefined": "XP_011520673.1:p.Asn5Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "referenceAllele": "T",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_017022929.1:c.903T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878418.1:p.Asn301Lys",
        "hgvsWellDefined": "XP_016878418.1:p.Asn301Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 674,
          "referenceAllele": "T",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_017022930.1:c.15T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878419.1:p.Asn5Lys",
        "hgvsWellDefined": "XP_016878419.1:p.Asn5Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573773"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 992,
          "referenceAllele": "T",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XR_001751835.1:n.992T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "T",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XR_001751836.1:n.779T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598636"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 557,
          "referenceAllele": "T",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XR_001751837.1:n.557T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598637"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 903,
          "referenceAllele": "T",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XR_001751838.1:n.903T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 557,
          "referenceAllele": "T",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XR_001751839.1:n.557T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598639"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658676805",
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NM_001031737.3:c.468T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026907.2:p.Asn156Lys",
        "hgvsWellDefined": "NP_001026907.2:p.Asn156Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828735983",
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NM_001378030.1:c.468T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364959.1:p.Asn156Lys",
        "hgvsWellDefined": "NP_001364959.1:p.Asn156Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345165.10:c.468T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001378030.1:c.468T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316851.5:p.Asn156Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001364959.1:p.Asn156Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828736226",
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NM_001378031.1:c.468T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364960.1:p.Asn156Lys",
        "hgvsWellDefined": "NP_001364960.1:p.Asn156Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573074681",
      "coordinates": [
        {
          "allele": "G",
          "end": 332,
          "referenceAllele": "T",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NM_001378033.1:c.15T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364962.1:p.Asn5Lys",
        "hgvsWellDefined": "NP_001364962.1:p.Asn5Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 766,
          "referenceAllele": "T",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NR_165382.1:n.766T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731656"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 500,
          "referenceAllele": "T",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NR_165383.1:n.500T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731657"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 467,
          "referenceAllele": "T",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NR_165384.1:n.467T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NR_165385.1:n.544T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NR_165386.1:n.544T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731660"
    }
  ],
  "type": "nucleotide"
}