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                    {
                        "id": "34493544",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/34493544"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-gain"
                ],
                "start_pos": 743,
                "end_pos": 743,
                "subjects_tested": "3601",
                "subjects_positive": "2",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "C",
                "comment": "Somatic mutation passed 2 filters: num. of cancers (3); n-glyco-sequon-gain (NIR->NIC).",
                "chr_id": "3",
                "chr_pos": "194433790",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R743",
                "disease": [
                    {
                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:9256",
                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "9256",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9256"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "CA - cancer of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "Tumour of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:9460",
                            "DOID:5166",
                            "DOID:2021",
                            "DOID:4114"
                        ],
                        "evidence": [
                            {
                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:1612",
                        "recommended_name": {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1612",
                            "name": "breast cancer",
                            "description": "An organ system cancer that originates in the mammary gland."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "breast tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "malignant neoplasm of breast",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "malignant tumor of the breast",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "mammary cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "mammary tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "primary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, lobular, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of breast",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of the breast",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MIM:114480",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114480",
                                "name": "Breast cancer",
                                "description": "Breast cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3017",
                            "DOID:0050938"
                        ],
                        "evidence": [
                            {
                                "id": "1612",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1612"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:14557",
                        "recommended_name": {
                            "id": "DOID:14557",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:14557",
                            "name": "primary pulmonary hypertension",
                            "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:14557",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14557",
                                "name": "Idiopathic pulmonary arterial hypertension",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009935",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009935",
                                "name": "pulmonary hypertension, primary, 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009935",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009935",
                                "name": "PPH5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009935",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009935",
                                "name": "pulmonary hypertension, primary, 5, autosomal recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014134",
                                "name": "pulmonary hypertension, primary, 2",
                                "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene."
                            },
                            {
                                "id": "MONDO:0014134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014134",
                                "name": "SMAD9 primary pulmonary hypertension",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014134",
                                "name": "primary pulmonary hypertension caused by mutation in SMAD9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014134",
                                "name": "pulmonary hypertension, primary, 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014134",
                                "name": "pulmonary hypertension, primary, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014134",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014134",
                                "name": "PPH2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014135",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014135",
                                "name": "pulmonary hypertension, primary, 3",
                                "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene."
                            },
                            {
                                "id": "MONDO:0014135",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014135",
                                "name": "CAV1 primary pulmonary hypertension",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014135",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014135",
                                "name": "primary pulmonary hypertension caused by mutation in CAV1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014135",
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                                "name": "pulmonary hypertension, primary, 3",
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                                "id": "MONDO:0014135",
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                                "id": "MONDO:0014136",
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