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                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/26133662"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 254,
                "end_pos": 254,
                "subjects_tested": "320",
                "subjects_positive": "1",
                "frequency": "0.3",
                "sequence_org": "V",
                "sequence_mut": "M",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis).",
                "chr_id": "3",
                "chr_pos": "49722239",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "V254",
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4362",
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                            {
                                "id": "DOID:4362",
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                            {
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "cervical cancer",
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                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "tumor of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0002974",
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
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                                "name": "cancer of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
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                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
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                                "name": "malignant cervical tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0002974",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri tumour",
                                "description": ""
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of cervix uteri",
                                "description": ""
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the cervix",
                                "description": ""
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the cervix uteri",
                                "description": ""
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of uterine cervix",
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                            {
                                "id": "MONDO:0002974",
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                                "name": "malignant tumor of cervix uteri",
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the cervix",
                                "description": ""
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the cervix uteri",
                                "description": ""
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of uterine cervix",
                                "description": ""
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of the cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of the uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant uterine cervix neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant uterine cervix tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant uterine cervix tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "uterine cervix cancer",
                                "description": ""
                            },
                            {
                                "id": "MIM:603956",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/603956",
                                "name": "Cervical cancer",
                                "description": "Cervical cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "4362",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4362"
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                        ]
                    },
                    {
                        "disease_id": "DOID:0110294",
                        "recommended_name": {
                            "id": "DOID:0110294",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110294",
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                        },
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                            {
                                "id": "DOID:0110294",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110294",
                                "name": "LGMD2T",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110294",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110294",
                                "name": "MDDGC14",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110294",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110294",
                                "name": "muscular dystrophy limb-girdle type 2T",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110294",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110294",
                                "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110294",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110294",
                                "name": "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014142",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014142",
                                "name": "autosomal recessive limb-girdle muscular dystrophy type 2T",
                                "description": "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency."
                            },
                            {
                                "id": "MONDO:0014142",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014142",
                                "name": "GMPPB autosomal recessive limb-girdle muscular dystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014142",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014142",
                                "name": "LGMD-GMPPB related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014142",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014142",
                                "name": "LGMD2T",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014142",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014142",
                                "name": "MDDGC14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014142",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014142",
                                "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014142",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014142",
                                "name": "limb-girdle muscular dystrophy type 2T",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014142",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014142",
                                "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14",
                                "description": ""
                            },
                            {
                                "id": "MIM:615352",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/615352",
                                "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C14",
                                "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C14"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "615352",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/615352"
                            },
                            {
                                "id": "GMPPB",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GMPPB/#!details"
                            },
                            {
                                "id": "0110294",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110294"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111233",
                        "recommended_name": {
                            "id": "DOID:0111233",
                            "resource": "Disease Ontology",
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                            "name": "congenital muscular dystrophy-dystroglycanopathy type A14",
                            "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31."
                        },
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                            {
                                "id": "DOID:0111233",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111233",
                                "name": "Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111233",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111233",
                                "name": "MDDGA14",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111233",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111233",
                                "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014140",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014140",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014140",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014140",
                                "name": "muscle-eye-brain-GMPPB related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014140",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014140",
                                "name": "MDDGA14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014140",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014140",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14",
                                "description": ""
                            },
                            {
                                "id": "MIM:615350",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/615350",
                                "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14",
                                "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0014140",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014140"
                            },
                            {
                                "id": "615350",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/615350"
                            },
                            {
                                "id": "GMPPB",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GMPPB/#!details"
                            },
                            {
                                "id": "0111233",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111233"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0112377",
                        "recommended_name": {
                            "id": "DOID:0112377",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0112377",
                            "name": "muscular dystrophy-dystroglycanopathy type B14",
                            "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0112377",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112377",
                                "name": "MDDGB14",
                                "description": ""
                            },
                            {
                                "id": "DOID:0112377",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112377",
                                "name": "congenital muscular dystrophy GMPPB-related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014141",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014141",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014141",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014141",
                                "name": "congenital muscular dystrophy-GMPPB related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014141",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014141",
                                "name": "MDDGB14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014141",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014141",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14",
                                "description": ""
                            },
                            {
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        "authors": "Aoyama A, Chen W T",
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