{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409673988",
  "communityStandardTitle": [
    "NM_001283009.2(RTEL1):c.1111C>T (p.Gln371Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2082134[alleleid]",
        "alleleId": 2082134,
        "preferredName": "NM_001283009.2(RTEL1):c.1111C>T (p.Gln371Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2030631",
        "RCV": [
          "RCV002871878"
        ],
        "variationId": 2030631
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62311275C>T?assembly=hg19",
        "id": "chr20:g.62311275C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.63679922C>T?assembly=hg38",
        "id": "chr20:g.63679922C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1274681944",
        "rs": 1274681944
      }
    ]
  },
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      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 63679922,
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          "start": 63679921
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        "CM000682.2:g.63679922C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
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          "end": 62311275,
          "referenceAllele": "C",
          "start": 62311274
        }
      ],
      "hgvs": [
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        "CM000682.1:g.62311275C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
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          "end": 61781719,
          "referenceAllele": "C",
          "start": 61781718
        }
      ],
      "hgvs": [
        "NC_000020.9:g.61781719C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27113,
          "referenceAllele": "C",
          "start": 27112
        }
      ],
      "hgvs": [
        "NG_033901.1:g.27113C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 785,
          "referenceAllele": "C",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.7:n.785C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 785,
          "referenceAllele": "C",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000425905.6:c.785C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS904801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1508,
          "referenceAllele": "C",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.7:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:p.Gln395Ter",
        "hgvsWellDefined": "ENSP00000424307.2:p.Gln395_Leu1243delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1542,
          "referenceAllele": "C",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000684971.1:n.1542C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000687123.1:n.941C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.9:c.442C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:p.Gln148Ter",
        "hgvsWellDefined": "ENSP00000322287.5:p.Gln148_Leu996delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1436,
          "referenceAllele": "C",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.11:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:p.Gln371Ter",
        "hgvsWellDefined": "ENSP00000353332.5:p.Gln371_Gln1300delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749287",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.1111C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.1111C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:p.Gln371Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:p.Gln371Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000482936.6:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.2:p.Gln371Ter",
        "hgvsWellDefined": "ENSP00000457868.2:p.Gln371_Ser1004delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGluArgArgArgIleProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1659,
          "referenceAllele": "C",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000318100.8:c.442C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322287.5:p.Gln148Ter",
        "hgvsWellDefined": "ENSP00000322287.5:p.Gln148_Leu996delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1436,
          "referenceAllele": "C",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000360203.9:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353332.5:p.Gln371Ter",
        "hgvsWellDefined": "ENSP00000353332.5:p.Gln371_Gln1300delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1938,
          "referenceAllele": "C",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000370018.7:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359035.3:p.Gln371Ter",
        "hgvsWellDefined": "ENSP00000359035.3:p.Gln371_Leu1219delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1111,
          "referenceAllele": "C",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000482936.5:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457868.1:p.Gln371Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "ENST00000492259.6:c.1195C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457428.1:p.Gln399Ter",
        "hgvsWellDefined": "ENSP00000457428.1:p.Gln399_Ala785delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgCysGlnArgArgProProGlyLeuGlnHisProValCysValGluLysMetLeuSerAlaArgProSerArgLeuAlaProSerSerProProGlyLysLeuArgValTrpThrCysMetSerProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1529,
          "referenceAllele": "C",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "ENST00000508582.6:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424307.2:p.Gln395Ter",
        "hgvsWellDefined": "ENSP00000424307.2:p.Gln395_Leu1243delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826679227",
      "coordinates": [
        {
          "allele": "T",
          "end": 1938,
          "referenceAllele": "C",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.1:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:p.Gln371Ter",
        "hgvsWellDefined": "NP_001269938.1:p.Gln371_Gln1300delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826680764",
      "coordinates": [
        {
          "allele": "T",
          "end": 1659,
          "referenceAllele": "C",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283010.1:c.442C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269939.1:p.Gln148Ter",
        "hgvsWellDefined": "NP_001269939.1:p.Gln148_Leu996delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022416"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829834995",
      "coordinates": [
        {
          "allele": "T",
          "end": 1938,
          "referenceAllele": "C",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.3:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:p.Gln371Ter",
        "hgvsWellDefined": "NP_057518.1:p.Gln371_Leu1219delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580487602",
      "coordinates": [
        {
          "allele": "T",
          "end": 2010,
          "referenceAllele": "C",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.4:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:p.Gln395Ter",
        "hgvsWellDefined": "NP_116575.3:p.Gln395_Leu1243delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1938,
          "referenceAllele": "C",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044095",
      "geneNCBI_id": 100533107,
      "geneSymbol": "RTEL1-TNFRSF6B",
      "hgvs": [
        "NR_037882.1:n.1938C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826679227",
      "coordinates": [
        {
          "allele": "T",
          "end": 1436,
          "referenceAllele": "C",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.2:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269938.1:p.Gln371Ter",
        "hgvsWellDefined": "NP_001269938.1:p.Gln371_Gln1300delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyGluProHisGlyArgAspIleAlaGlyGlnGlnAlaThrGlyAlaProGlyGlyProLeuSerAlaGlyCysValCysGlnGlyCysGlyAlaGluAspValValProPheGlnCysProAlaCysAspPheGlnArgCysGlnAlaCysTrpGlnArgHisLeuGlnAlaSerArgMetCysProAlaCysHisThrAlaSerArgLysGlnSerValMetGlnValPheTrpProGluProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360203.11:c.1111C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001283009.2:c.1111C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353332.5:p.Gln371Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001269938.1:p.Gln371Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829834995",
      "coordinates": [
        {
          "allele": "T",
          "end": 1436,
          "referenceAllele": "C",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_016434.4:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057518.1:p.Gln371Ter",
        "hgvsWellDefined": "NP_057518.1:p.Gln371_Leu1219delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580487602",
      "coordinates": [
        {
          "allele": "T",
          "end": 1508,
          "referenceAllele": "C",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_032957.5:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116575.3:p.Gln395Ter",
        "hgvsWellDefined": "NP_116575.3:p.Gln395_Leu1243delinsIleIleGlnHisLeuAlaGlyArgAlaGlyValPheThrAsnThrAlaGlyLeuGlnLysLeuAlaAspIleIleGlnIleValPheSerValAspProSerGluGlySerProGlySerProAlaGlyLeuGlyAlaLeuGlnSerTyrLysValHisIleHisProAspAlaGlyHisArgArgThrAlaGlnArgSerAspAlaTrpSerThrThrAlaAlaArgLysArgGlyLysValLeuSerTyrTrpCysPheSerProGlyHisSerMetHisGluLeuValArgGlnGlyValArgSerLeuIleLeuThrSerGlyThrLeuAlaProValSerSerPheAlaLeuGluMetGlnIleProPheProValCysLeuGluAsnProHisIleIleAspLysHisGlnIleTrpValGlyValValProArgGlyProAspGlyAlaGlnLeuSerSerAlaPheAspArgArgPheSerGluGluCysLeuSerSerLeuGlyLysAlaLeuGlyAsnIleAlaArgValValProTyrGlyLeuLeuIlePhePheProSerTyrProValMetGluLysSerLeuGluPheTrpArgAlaArgAspLeuAlaArgLysMetGluAlaLeuLysProLeuPheValGluProArgSerLysGlySerPheSerGluThrIleSerAlaTyrTyrAlaArgValAlaAlaProGlySerThrGlyAlaThrPheLeuAlaValCysArgGlyLysAlaSerGluGlyLeuAspPheSerAspThrAsnGlyArgGlyValIleValThrGlyLeuProTyrProProArgMetAspProArgValValLeuLysMetGlnPheLeuAspGluMetLysGlyGlnGlyGlyAlaGlyGlyGlnPheLeuSerGlyGlnGluTrpTyrArgGlnGlnAlaSerArgAlaValAsnGlnAlaIleGlyArgValIleArgHisArgGlnAspTyrGlyAlaValPheLeuCysAspHisArgPheAlaPheAlaAspAlaArgAlaGlnLeuProSerTrpValArgProHisValArgValTyrAspAsnPheGlyHisValIleArgAspValAlaGlnPhePheArgValAlaGluArgThrMetProAlaProAlaProArgAlaThrAlaProSerValArgGlyGluAspAlaValSerGluAlaLysSerProGlyProPhePheSerThrArgLysAlaLysSerLeuAspLeuHisValProSerLeuLysGlnArgSerSerGlySerProAlaAlaGlyAspProGluSerSerLeuCysValGluTyrGluGlnGluProValProAlaArgGlnArgProArgGlyLeuLeuAlaAlaLeuGluHisSerGluGlnArgAlaGlySerProGlyGluGluGlnAlaHisSerCysSerThrLeuSerLeuLeuSerGluLysArgProAlaGluGluProArgGlyGlyArgLysLysIleArgLeuValSerHisProGluGluProValAlaGlyAlaGlnThrAspArgAlaLysLeuPheMetValAlaValLysGlnGluLeuSerGlnAlaAsnPheAlaThrPheThrGlnAlaLeuGlnAspTyrLysGlySerAspAspPheAlaAlaLeuAlaAlaCysLeuGlyProLeuPheAlaGluAspProLysLysHisAsnLeuLeuGlnGlyPheTyrGlnPheValArgProHisHisLysGlnGlnPheGluGluValCysIleGlnLeuThrGlyArgGlyCysGlyTyrArgProGluHisSerIleProArgArgGlnArgAlaGlnProValLeuAspProThrGlyArgThrAlaProAspProLysLeuThrValSerThrAlaAlaAlaGlnGlnLeuAspProGlnGluHisLeuAsnGlnGlyArgProHisLeuSerProArgProProProThrGlyAspProGlySerGlnProGlnTrpGlySerGlyValProArgAlaGlyLysGlnGlyGlnHisAlaValSerAlaTyrLeuAlaAspAlaArgArgAlaLeuGlySerAlaGlyCysSerGlnLeuLeuAlaAlaLeuThrAlaTyrLysGlnAspAspAspLeuAspLysValLeuAlaValLeuAlaAlaLeuThrThrAlaLysProGluAspPheProLeuLeuHisArgPheSerMetPheValArgProHisHisLysGlnArgPheSerGlnThrCysThrAspLeuThrGlyArgProTyrProGlyMetGluProProGlyProGlnGluGluArgLeuAlaValProProValLeuThrHisArgAlaProGlnProGlyProSerArgSerGluLysThrGlyLysThrGlnSerLysIleSerSerPheLeuArgGlnArgProAlaGlyThrValGlyAlaGlyGlyGluAspAlaGlyProSerGlnSerSerGlyProProHisGlyProAlaAlaSerGluTrpGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699223"
    }
  ],
  "type": "nucleotide"
}