{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4230712",
  "communityStandardTitle": [
    "NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1450730",
        "active": true,
        "id": "COSM1450730"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1109135[alleleid]",
        "alleleId": 1109135,
        "preferredName": "NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1120233",
        "RCV": [
          "RCV001450018",
          "RCV002246386",
          "RCV002265029",
          "RCV003264039"
        ],
        "variationId": 1120233
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-42012040-G-A",
        "id": "7-42012040-G-A",
        "variant": "7:42012040 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.42012040G>A?assembly=hg19",
        "id": "chr7:g.42012040G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.41972441G>A?assembly=hg38",
        "id": "chr7:g.41972441G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/781422192",
        "rs": 781422192
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-42012040-G-A?dataset=gnomad_r2_1",
        "id": "7-42012040-G-A",
        "variant": "7:42012040 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-41972441-G-A?dataset=gnomad_r3",
        "id": "7-41972441-G-A",
        "variant": "7:41972441 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-41972441-G-A?dataset=gnomad_r4",
        "id": "7-41972441-G-A",
        "variant": "7:41972441 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 41972441,
          "referenceAllele": "G",
          "start": 41972440
        }
      ],
      "hgvs": [
        "NC_000007.14:g.41972441G>A",
        "CM000669.2:g.41972441G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 42012040,
          "referenceAllele": "G",
          "start": 42012039
        }
      ],
      "hgvs": [
        "NC_000007.13:g.42012040G>A",
        "CM000669.1:g.42012040G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 41978565,
          "referenceAllele": "G",
          "start": 41978564
        }
      ],
      "hgvs": [
        "NC_000007.12:g.41978565G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 269579,
          "referenceAllele": "C",
          "start": 269578
        }
      ],
      "hgvs": [
        "NG_008434.1:g.269579C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2280,
          "referenceAllele": "C",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.8:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Arg667Ter",
        "hgvsWellDefined": "ENSP00000379258.3:p.Arg667_Gln1580delinsProThrGlnGlyAlaLeuGlyGluGlnGlnAspLeuSerAsnThrThrSerLysArgGluGluCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.1999C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.1999C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Arg667Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Arg667Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1956,
          "referenceAllele": "C",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677288.1:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503986.1:p.Arg609Ter",
        "hgvsWellDefined": "ENSP00000503986.1:p.Arg609_Gln1522delinsProThrGlnGlyAlaLeuGlyGluGlnGlnAspLeuSerAsnThrThrSerLysArgGluGluCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2098,
          "referenceAllele": "C",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000677605.1:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503743.1:p.Arg667Ter",
        "hgvsWellDefined": "ENSP00000503743.1:p.Arg667_Gln1580delinsProThrGlnGlyAlaLeuGlyGluGlnGlnAspLeuSerAsnThrThrSerLysArgGluGluCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2112,
          "referenceAllele": "C",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000678429.1:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502957.1:p.Arg667Ter",
        "hgvsWellDefined": "ENSP00000502957.1:p.Arg667_Gln1580delinsProThrGlnGlyAlaLeuGlyGluGlnGlnAspLeuSerAsnThrThrSerLysArgGluGluCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2084,
          "referenceAllele": "C",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000395925.7:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379258.3:p.Arg667Ter",
        "hgvsWellDefined": "ENSP00000379258.3:p.Arg667_Gln1580delinsProThrGlnGlyAlaLeuGlyGluGlnGlnAspLeuSerAsnThrThrSerLysArgGluGluCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "referenceAllele": "C",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000464291.1:n.552C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1976,
          "referenceAllele": "C",
          "start": 1975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "ENST00000479210.1:n.1976C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319645"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499229154",
      "coordinates": [
        {
          "allele": "T",
          "end": 2090,
          "referenceAllele": "C",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.5:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Arg667Ter",
        "hgvsWellDefined": "NP_000159.3:p.Arg667_Gln1580delinsProThrGlnGlyAlaLeuGlyGluGlnGlnAspLeuSerAsnThrThrSerLysArgGluGluCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2128,
          "referenceAllele": "C",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249703.1:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249760.1:p.Arg667Ter",
        "hgvsWellDefined": "XP_005249760.1:p.Arg667_Gln1580delinsProThrGlnGlyAlaLeuGlyGluGlnGlnAspLeuSerAsnThrThrSerLysArgGluGluCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2317,
          "referenceAllele": "C",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_005249704.2:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249761.1:p.Arg667Ter",
        "hgvsWellDefined": "XP_005249761.1:p.Arg667_Gln1580delinsProThrGlnGlyAlaLeuGlyGluGlnGlnAspLeuSerAsnThrThrSerLysArgGluGluCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2107,
          "referenceAllele": "C",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515272.1:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513574.1:p.Arg667Ter",
        "hgvsWellDefined": "XP_011513574.1:p.Arg667_Gln1580delinsProThrGlnGlyAlaLeuGlyGluGlnGlnAspLeuSerAsnThrThrSerLysArgGluGluCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2160,
          "referenceAllele": "C",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515273.1:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513575.1:p.Arg667Ter",
        "hgvsWellDefined": "XP_011513575.1:p.Arg667_Gln1580delinsProThrGlnGlyAlaLeuGlyGluGlnGlnAspLeuSerAsnThrThrSerLysArgGluGluCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1976,
          "referenceAllele": "C",
          "start": 1975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.1:c.1822C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Arg608Ter",
        "hgvsWellDefined": "XP_011513576.1:p.Arg608_Gln1521delinsProThrGlnGlyAlaLeuGlyGluGlnGlnAspLeuSerAsnThrThrSerLysArgGluGluCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4714,
          "referenceAllele": "C",
          "start": 4713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_011515274.2:c.1822C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513576.1:p.Arg608Ter",
        "hgvsWellDefined": "XP_011513576.1:p.Arg608_Gln1521delinsProThrGlnGlyAlaLeuGlyGluGlnGlnAspLeuSerAsnThrThrSerLysArgGluGluCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4747,
          "referenceAllele": "C",
          "start": 4746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "XM_017011997.1:c.1996C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867486.1:p.Arg666Ter",
        "hgvsWellDefined": "XP_016867486.1:p.Arg666_Gln1579delinsProThrGlnGlyAlaLeuGlyGluGlnGlnAspLeuSerAsnThrThrSerLysArgGluGluCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499229154",
      "coordinates": [
        {
          "allele": "T",
          "end": 2280,
          "referenceAllele": "C",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004319",
      "geneNCBI_id": 2737,
      "geneSymbol": "GLI3",
      "hgvs": [
        "NM_000168.6:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000159.3:p.Arg667Ter",
        "hgvsWellDefined": "NP_000159.3:p.Arg667_Gln1580delinsProThrGlnGlyAlaLeuGlyGluGlnGlnAspLeuSerAsnThrThrSerLysArgGluGluCysLeuGlnValLysThrValLysAlaGluLysProMetThrSerGlnProSerProGlyGlyGlnSerSerCysSerSerGlnGlnSerProIleSerAsnTyrSerAsnSerGlyLeuGluLeuProLeuThrAspGlyGlySerIleGlyAspLeuSerAlaIleAspGluThrProIleMetAspSerThrIleSerThrAlaThrThrAlaLeuAlaLeuGlnAlaArgArgAsnProAlaGlyThrLysTrpMetGluHisValLysLeuGluArgLeuLysGlnValAsnGlyMetPheProArgLeuAsnProIleLeuProProLysAlaProAlaValSerProLeuIleGlyAsnGlyThrGlnSerAsnAsnThrCysSerLeuGlyGlyProMetThrLeuLeuProGlyArgSerAspLeuSerGlyValAspValThrMetLeuAsnMetLeuAsnArgArgAspSerSerAlaSerThrIleSerSerAlaTyrLeuSerSerArgArgSerSerGlyIleSerProCysPheSerSerArgArgSerSerGluAlaSerGlnAlaGluGlyArgProGlnAsnValSerValAlaAspSerTyrAspProIleSerThrAspAlaSerArgArgSerSerGluAlaSerGlnSerAspGlyLeuProSerLeuLeuSerLeuThrProAlaGlnGlnTyrArgLeuLysAlaLysTyrAlaAlaAlaThrGlyGlyProProProThrProLeuProAsnMetGluArgMetSerLeuLysThrArgLeuAlaLeuLeuGlyAspAlaLeuGluProGlyValAlaLeuProProValHisAlaProArgArgCysSerAspGlyGlyAlaHisGlyTyrGlyArgArgHisLeuGlnProHisAspAlaProGlyHisGlyValArgArgAlaSerAspProValArgThrGlySerGluGlyLeuAlaLeuProArgValProArgPheSerSerLeuSerSerCysAsnProProAlaMetAlaThrSerAlaGluLysArgSerLeuValLeuGlnAsnTyrThrArgProGluGlyGlyGlnSerArgAsnPheHisSerSerProCysProProSerIleThrGluAsnValThrLeuGluSerLeuThrMetAspAlaAspAlaAsnLeuAsnAspGluAspPheLeuProAspAspValValGlnTyrLeuAsnSerGlnAsnGlnAlaGlyTyrGluGlnHisPheProSerAlaLeuProAspAspSerLysValProHisGlyProGlyAspPheAspAlaProGlyLeuProAspSerHisAlaGlyGlnGlnPheHisAlaLeuGluGlnProCysProGluGlySerLysThrAspLeuProIleGlnTrpAsnGluValSerSerGlySerAlaAspLeuSerSerSerLysLeuLysCysGlyProArgProAlaValProGlnThrArgAlaPheGlyPheCysAsnGlyMetValValHisProGlnAsnProLeuArgSerGlyProAlaGlyGlyTyrGlnThrLeuGlyGluAsnSerAsnProTyrGlyGlyProGluHisLeuMetLeuHisAsnSerProGlySerGlyThrSerGlyAsnAlaPheHisGluGlnProCysLysAlaProGlnTyrGlyAsnCysLeuAsnArgGlnProValAlaProGlyAlaLeuAspGlyAlaCysGlyAlaGlyIleGlnAlaSerLysLeuLysSerThrProMetGlnGlySerGlyGlyGlnLeuAsnPheGlyLeuProValAlaProAsnGluSerAlaGlySerMetValAsnGlyMetGlnAsnGlnAspProValGlyGlnGlyTyrLeuAlaHisGlnLeuLeuGlyAspSerMetGlnHisProGlyAlaGlyArgProGlyGlnGlnMetLeuGlyGlnIleSerAlaThrSerHisIleAsnIleTyrGlnGlyProGluSerCysLeuProGlyAlaHisGlyMetGlySerGlnProSerSerLeuAlaValValArgGlyTyrGlnProCysAlaSerPheGlyGlySerArgArgGlnAlaMetProArgAspSerLeuAlaLeuGlnSerGlyGlnLeuSerAspThrSerGlnThrCysArgValAsnGlyIleLysMetGluMetLysGlyGlnProHisProLeuCysSerAsnLeuGlnAsnTyrSerGlyGlnPheTyrAspGlnThrValGlyPheSerGlnGlnAspThrLysAlaGlySerPheSerIleSerAspAlaSerCysLeuLeuGlnGlyThrSerAlaLysAsnSerGluLeuLeuSerProGlyAlaAsnGlnValThrSerThrValAspSerLeuAspSerHisAspLeuGluGlyValGlnIleAspPheAspAlaIleIleAspAspGlyAspHisSerSerLeuMetSerGlyAlaLeuSerProSerIleIleGlnAsnLeuSerHisSerSerSerArgLeuThrThrProArgAlaSerLeuProPheProAlaLeuSerMetSerThrThrAsnMetAlaIleGlyAspMetSerSerLeuLeuThrSerLeuAlaGluGluSerLysPheLeuAlaValMetGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662338",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395925.8:c.1999C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000168.6:c.1999C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379258.3:p.Arg667Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000159.3:p.Arg667Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}