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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
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                            {
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                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "GM2-gangliosidosis, variant B1",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                "chr_pos": "72353167",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N157",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs752813753",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752813753"
                    },
                    {
                        "id": "rs752813753",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752813753"
                    },
                    {
                        "id": "rs752813753",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs752813753#frequency_tab"
                    },
                    {
                        "id": "rs752813753",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs752813753"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 158,
                "end_pos": 158,
                "sequence_org": "K",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72353166",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K158",
                "disease": [
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                            },
                            {
                                "id": "MONDO:0010100",
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                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0010100",
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                            },
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                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
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                            {
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
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                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
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                            {
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                                "id": "MONDO:0001187",
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                                "id": "MONDO:0001187",
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                            {
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                            {
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                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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                                "id": "DOID:4159",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                    },
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                ],
                "glycoeffect": [],
                "start_pos": 166,
                "end_pos": 166,
                "sequence_org": "R",
                "sequence_mut": "H",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72353141",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R166",
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
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                                "id": "MONDO:0010100",
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                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "description": ""
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            },
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                                "id": "MONDO:0010100",
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                            {
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                                "id": "MONDO:0010100",
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                            },
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "resource": "Disease Ontology",
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                            {
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                                "description": ""
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                        ]
                    },
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                            {
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                                "description": ""
                            },
                            {
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                            {
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                                "description": ""
                            },
                            {
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                            },
                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
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                            },
                            {
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                            {
                                "id": "MONDO:0010100",
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                            },
                            {
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                            {
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                                "description": ""
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
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                            },
                            {
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                            {
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            },
            {
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                    {
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                ],
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                "end_pos": 170,
                "sequence_org": "R",
                "sequence_mut": "W",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72353130",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R170",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
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                            {
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
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                            {
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                            {
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                            {
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            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "primary malignant neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "tumor of the Brain",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:1659",
                            "DOID:4203",
                            "DOID:368",
                            "DOID:3541",
                            "DOID:4706"
                        ],
                        "evidence": [
                            {
                                "id": "1319",
                                "database": "AGR",
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                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1324",
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                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "name": "adenocarcinoma of lung, somatic",
                                "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": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "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": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "adenocarcinoma of lung, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
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                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
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                        "id": "P06865",
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                    {
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                        "url": ""
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                    {
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121907953"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 178,
                "end_pos": 178,
                "subjects_tested": "2670",
                "subjects_positive": "2",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "C",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "15",
                "chr_pos": "72353106",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R178",
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                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                                "description": ""
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                            {
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                                "resource": "Disease Ontology",
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                    {
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                            "resource": "Disease Ontology",
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                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "cancer of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of urinary bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor, urinary bladder",
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                            {
                                "id": "MONDO:0001187",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of bladder",
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                            {
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                                "id": "MONDO:0010100",
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                            {
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                "start_pos": 178,
                "end_pos": 178,
                "sequence_org": "R",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72353105",
                "ref_nt": "T",
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                "minor_allelic_frequency": "",
                "site_lbl": "R178",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
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                        "evidence": [
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                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
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                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
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                    },
                    {
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                    },
                    {
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                    },
                    {
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                    },
                    {
                        "id": "1833974",
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                        "url": "https://glygen.org/publication/PubMed/1833974"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 178,
                "end_pos": 178,
                "sequence_org": "R",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72353105",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R178",
                "disease": [
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                        },
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
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                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0010100",
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                                "name": "gangliosidosis GM2, type 1",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
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                                "name": "hexosaminidase a deficiency",
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                            {
                                "id": "MONDO:0010100",
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                                "name": "hexosaminidase a deficiency, adult type",
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                            {
                                "id": "MONDO:0010100",
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                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
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                                "description": ""
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "GM2-gangliosidosis, adult chronic type",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "GM2-gangliosidosis, type 1",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
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                            },
                            {
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                "end_pos": 179,
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                "sequence_mut": "Y",
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                "minor_allelic_frequency": "",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            }
        ]
    }
}
