cat-vrs/examples/json/adjacencyFusion-ex2.json at v1 · ga4gh/cat-vrs · GitHub

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{
  "id": "civic.fid:62026",
  "type": "CategoricalVariant",
  "name": "v::NTRK1(hgnc:8031)",
  "description": "An optional field to describe v::NTRK1(hgnc:8031).",
  "aliases": [
    "v::NTRK1",
    "NTRK1 fusion"
  ],
  "constraints": [
    {
      "type": "AdjacencyConstraint",
      "orderKnown": false,
      "adjoinedElements": [
        {
          "type": "UnspecifiedElement"
        },
        {
          "id": "hgnc:8031",
          "conceptType": "Gene",
          "name": "NTRK1",
          "primaryCoding": {
            "id": "hgnc:8031",
            "name": "NTRK1",
            "system": "https://genenames.org",
            "code": "HGNC:8031",
            "iris": [
              "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7230"
            ]
          }
        }
      ]
    }
  ],
  "extensions": [
    {
      "name": "Known Gene Elements",
      "description": "Known gene elements that may satisfy this Categorical Variant. Please specify if this array is exhaustive or non-exhaustive, and if it is subject to change.",
      "value": {
        "type": "ConceptSet",
        "membershipOperator": "OR",
        "concepts": [
          {
            "id": "hgnc:6636",
            "conceptType": "Gene",
            "name": "LMNA",
            "primaryCoding": {
              "id": "hgnc:6636",
              "name": "LMNA",
              "system": "https://genenames.org",
              "code": "HGNC:6636",
              "iris": [
                "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636"
              ]
            }
          },
          {
            "id": "hgnc:11758",
            "conceptType": "Gene",
            "name": "TFG",
            "primaryCoding": {
              "id": "hgnc:11758",
              "name": "TFG",
              "system": "https://genenames.org",
              "code": "HGNC:11758",
              "iris": [
                "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11758"
              ]
            }
          },
          {
            "id": "hgnc:11998",
            "conceptType": "Gene",
            "name": "TP53",
            "primaryCoding": {
              "id": "hgnc:11998",
              "name": "TP53",
              "system": "https://genenames.org",
              "code": "HGNC:11998",
              "iris": [
                "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11998"
              ]
            }
          },
          {
            "id": "hgnc:12012",
            "conceptType": "Gene",
            "name": "TPM3",
            "primaryCoding": {
              "id": "hgnc:12012",
              "name": "TPM3",
              "system": "https://genenames.org",
              "code": "HGNC:12012",
              "iris": [
                "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12012"
              ]
            }
          },
          {
            "id": "hgnc:12017",
            "conceptType": "Gene",
            "name": "TPR",
            "primaryCoding": {
              "id": "hgnc:12017",
              "name": "TPR",
              "system": "https://genenames.org",
              "code": "HGNC:12017",
              "iris": [
                "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12017"
              ]
            }
          }
        ]
      }
    }
  ]
}