{
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    "recordid": "P10253-1",
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                            "url": "http://disease-ontology.org/term/DOID:2531",
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                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
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                            },
                            {
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                            {
                                "id": "DOID:2531",
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                            {
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                            {
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                            {
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                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
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                    {
                        "id": "rs886042960",
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                ],
                "glycoeffect": [],
                "start_pos": 334,
                "end_pos": 334,
                "sequence_org": "G",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "minor_allelic_frequency": "",
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease",
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                            }
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                        "evidence": [
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                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
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                            }
                        ]
                    }
                ],
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                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P10253",
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    },
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                    {
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                    },
                    {
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs200412003#frequency_tab"
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                    {
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200412003"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 350,
                "end_pos": 350,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "V",
                "sequence_mut": "M",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "17",
                "chr_pos": "80108382",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "V350",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "description": ""
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            {
                                "id": "MONDO:0012159",
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                            {
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                            {
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                            {
                                "id": "MONDO:0013631",
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
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                                "description": "Lung cancer"
                            }
                        ],
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                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                        ],
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                    {
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                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease",
                                "description": "Pompe disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            }
        ]
    }
}
