{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7789495",
  "communityStandardTitle": [
    "NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=844276[alleleid]",
        "alleleId": 844276,
        "preferredName": "NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/837345",
        "RCV": [
          "RCV001038657",
          "RCV003363055"
        ],
        "variationId": 837345
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-774930-C-T",
        "id": "16-774930-C-T",
        "variant": "16:774930 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.774930C>T?assembly=hg19",
        "id": "chr16:g.774930C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.724930C>T?assembly=hg38",
        "id": "chr16:g.724930C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368147684",
        "rs": 368147684
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-774930-C-T?dataset=gnomad_r2_1",
        "id": "16-774930-C-T",
        "variant": "16:774930 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-724930-C-T?dataset=gnomad_r3",
        "id": "16-724930-C-T",
        "variant": "16:724930 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-724930-C-T?dataset=gnomad_r4",
        "id": "16-724930-C-T",
        "variant": "16:724930 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 724930,
          "referenceAllele": "C",
          "start": 724929
        }
      ],
      "hgvs": [
        "NC_000016.10:g.724930C>T",
        "CM000678.2:g.724930C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 774930,
          "referenceAllele": "C",
          "start": 774929
        }
      ],
      "hgvs": [
        "NC_000016.9:g.774930C>T",
        "CM000678.1:g.774930C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 714931,
          "referenceAllele": "C",
          "start": 714930
        }
      ],
      "hgvs": [
        "NC_000016.8:g.714931C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6544,
          "referenceAllele": "G",
          "start": 6543
        }
      ],
      "hgvs": [
        "NG_032932.1:g.6544G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005292"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 665,
          "referenceAllele": "G",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000423653.6:n.665G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 888,
          "referenceAllele": "G",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000682391.1:n.888G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000345165.10:c.620G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316851.5:p.Arg207Gln",
        "hgvsWellDefined": "ENSP00000316851.5:p.Arg207Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748280",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345165.10:c.620G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001378030.1:c.620G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316851.5:p.Arg207Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001364959.1:p.Arg207Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000293889.10:c.620G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293889.6:p.Arg207Gln",
        "hgvsWellDefined": "ENSP00000293889.6:p.Arg207Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000345165.8:c.166G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS262144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 618,
          "referenceAllele": "G",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000423653.5:c.167G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458590.1:p.Arg56Gln",
        "hgvsWellDefined": "ENSP00000458590.1:p.Arg56Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000439619.6:n.788G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS295512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 766,
          "referenceAllele": "G",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000460023.5:n.766G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000463539.5:n.771G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 793,
          "referenceAllele": "G",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000466708.5:n.793G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "referenceAllele": "G",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000478979.5:n.707G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1207,
          "referenceAllele": "G",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000481804.5:n.1207G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1110,
          "referenceAllele": "G",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000482878.5:n.1110G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 773,
          "referenceAllele": "G",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000485091.5:n.773G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "ENST00000538176.5:n.778G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42,
          "endIntronDirection": "-",
          "endIntronOffset": 37701,
          "referenceAllele": "C",
          "start": 42,
          "startIntronDirection": "-",
          "startIntronOffset": 37702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007371",
      "geneNCBI_id": 10232,
      "geneSymbol": "MSLN",
      "hgvs": [
        "ENST00000620831.4:c.-49-37702C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482893.1:n.-49-37702C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825354282",
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NM_001031737.2:c.620G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026907.2:p.Arg207Gln",
        "hgvsWellDefined": "NP_001026907.2:p.Arg207Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1120,
          "referenceAllele": "G",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_005255106.3:c.766G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255163.1:p.Asp256Asn",
        "hgvsWellDefined": "XP_005255163.1:p.Asp256Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 931,
          "referenceAllele": "G",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_006720838.1:c.842G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720901.1:p.Arg281Gln",
        "hgvsWellDefined": "XP_006720901.1:p.Arg281Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_006720843.2:c.620G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720906.1:p.Arg207Gln",
        "hgvsWellDefined": "XP_006720906.1:p.Arg207Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522356.1:c.1087-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520658.1:n.1087-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1144,
          "referenceAllele": "G",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522357.1:c.1055G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520659.1:p.Arg352Gln",
        "hgvsWellDefined": "XP_011520659.1:p.Arg352Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522358.1:c.1087-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520660.1:n.1087-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 1142,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522359.1:c.1054-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520661.1:n.1054-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1111,
          "referenceAllele": "G",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522360.1:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520662.1:p.Arg341Gln",
        "hgvsWellDefined": "XP_011520662.1:p.Arg341Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522361.1:c.1087-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520663.1:n.1087-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522362.1:c.1087-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520664.1:n.1087-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522363.1:c.1087-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520665.1:n.1087-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522364.1:c.1087-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520666.1:n.1087-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 962,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 962,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522365.1:c.874-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520667.1:n.874-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 940,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522366.1:c.865-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520668.1:n.865-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089519"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 794,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 794,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522367.1:c.706-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520669.1:n.706-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "G",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522368.1:c.674G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520670.1:p.Arg225Gln",
        "hgvsWellDefined": "XP_011520670.1:p.Arg225Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 740,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522369.1:c.652-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520671.1:n.652-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089522"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 559,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 559,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522370.1:c.484-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520672.1:n.484-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 564,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522371.1:c.199-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520673.1:n.199-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089524"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_006720843.4:c.620G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720906.1:p.Arg207Gln",
        "hgvsWellDefined": "XP_006720906.1:p.Arg207Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522358.2:c.1087-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520660.1:n.1087-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 551,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 551,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_011522371.2:c.199-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520673.1:n.199-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_017022929.1:c.1087-124G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878418.1:n.1087-124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 826,
          "referenceAllele": "G",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XM_017022930.1:c.167G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878419.1:p.Arg56Gln",
        "hgvsWellDefined": "XP_016878419.1:p.Arg56Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1235,
          "referenceAllele": "G",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XR_001751835.1:n.1235G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1110,
          "referenceAllele": "G",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XR_001751836.1:n.1110G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 888,
          "referenceAllele": "G",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XR_001751837.1:n.888G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1234,
          "referenceAllele": "G",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XR_001751838.1:n.1234G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 800,
          "referenceAllele": "G",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "XR_001751839.1:n.800G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598639"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825354282",
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NM_001031737.3:c.620G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026907.2:p.Arg207Gln",
        "hgvsWellDefined": "NP_001026907.2:p.Arg207Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828736030",
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NM_001378030.1:c.620G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364959.1:p.Arg207Gln",
        "hgvsWellDefined": "NP_001364959.1:p.Arg207Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345165.10:c.620G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001378030.1:c.620G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000316851.5:p.Arg207Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001364959.1:p.Arg207Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139744520",
      "coordinates": [
        {
          "allele": "A",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NM_001378031.1:c.620G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364960.1:p.Arg207Gln",
        "hgvsWellDefined": "NP_001364960.1:p.Arg207Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 515,
          "endIntronDirection": "+",
          "endIntronOffset": 148,
          "referenceAllele": "G",
          "start": 515,
          "startIntronDirection": "+",
          "startIntronOffset": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NM_001378033.1:c.198+148G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364962.1:n.198+148G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NR_165382.1:n.1006G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NR_165383.1:n.652G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731657"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NR_165384.1:n.617G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 784,
          "referenceAllele": "G",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NR_165385.1:n.784G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 784,
          "referenceAllele": "G",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NR_165386.1:n.784G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731660"
    }
  ],
  "type": "nucleotide"
}