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                        {
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                        {
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                            "id": "rs141506204",
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                        {
                            "id": "rs141506204",
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                            "url": "http://disease-ontology.org/term/DOID:0111330",
                            "evidence": [
                                {
                                    "id": "0111330",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111330"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110961",
                            "name": "atypical Gaucher's disease due to saposin c deficiency",
                            "description": "A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.",
                            "url": "http://disease-ontology.org/term/DOID:0110961",
                            "evidence": [
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
                                },
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110961",
                            "name": "atypical Gaucher's disease due to saposin c deficiency",
                            "description": "A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.",
                            "url": "http://disease-ontology.org/term/DOID:0110961",
                            "evidence": [
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
                                },
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110961",
                            "name": "atypical Gaucher's disease due to saposin c deficiency",
                            "description": "A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.",
                            "url": "http://disease-ontology.org/term/DOID:0110961",
                            "evidence": [
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
                                },
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P07602-1",
                    "start_pos": 215,
                    "end_pos": 215,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Prosaposin",
                    "gene_name": "PSAP",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 58113.0
                }
            ]
        },
        {
            "start_pos": "332",
            "site_seq": "",
            "site_lbl": "N332",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->KKT).",
                    "chr_id": "10",
                    "chr_pos": "71820249",
                    "evidence": [
                        {
                            "id": "rs546727182",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546727182"
                        },
                        {
                            "id": "rs546727182",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs546727182"
                        },
                        {
                            "id": "rs546727182",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs546727182"
                        },
                        {
                            "id": "rs546727182",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs546727182#frequency_tab"
                        },
                        {
                            "id": "rs546727182",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs546727182"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "null",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->nullKT).",
                    "chr_id": "10",
                    "chr_pos": "71820248TGT",
                    "evidence": [
                        {
                            "id": "rs751974432",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751974432"
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                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P07602-1",
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "23345538",
                            "url": "https://glygen.org/publication/PubMed/23345538"
                        },
                        {
                            "database": "UniCarbKB",
                            "id": "GLY_000040",
                            "url": "http://data.glygen.org/GLY_000040"
                        },
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Prosaposin",
                    "gene_name": "PSAP",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 58113.0
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            ]
        },
        {
            "start_pos": "80",
            "site_seq": "",
            "site_lbl": "N80",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "D",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->DAT).",
                    "chr_id": "10",
                    "chr_pos": "71831857",
                    "evidence": [
                        {
                            "id": "rs1842525967",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1842525967"
                        },
                        {
                            "id": "rs1842525967",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs1842525967"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).",
                    "chr_id": "10",
                    "chr_pos": "71831856",
                    "evidence": [
                        {
                            "id": "rs570654892",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs570654892",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs570654892"
                        },
                        {
                            "id": "rs570654892",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs570654892"
                        },
                        {
                            "id": "rs570654892",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs570654892#frequency_tab"
                        },
                        {
                            "id": "rs570654892",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs570654892"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:10581",
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                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
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                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
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                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
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                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
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                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
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                                {
                                    "id": "10581",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
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                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
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                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
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                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
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                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
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                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
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                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
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                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
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                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
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                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
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                                {
                                    "id": "10581",
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            ]
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                    ],
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            ]
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                    "tax_common_name": "Human",
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                    "chemical_mass": 515545.0
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            ]
        },
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            ]
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            ]
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            ]
        },
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                {
                    "uniprot_canonical_ac": "P15144-1",
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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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                        {
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            ]
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                        {
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            ]
        },
        {
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                        {
                            "id": "rs1567158374",
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                    ]
                },
                {
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                        {
                            "id": "rs1894541807",
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                    ]
                }
            ],
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                        {
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                        {
                            "database": "DOI",
                            "id": "10.1007/s00018-021-03863-1",
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                        {
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                            "id": "37074911",
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                        {
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                    ],
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                        {
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                        {
                            "database": "DOI",
                            "id": "10.1007/s00018-021-03863-1",
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                        {
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                        {
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                        {
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                                    "id": "3571",
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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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                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        },
                        {
                            "database": "PubMed",
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                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 999,
                    "chemical_mass": 111335.0
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            ]
        },
        {
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                {
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                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        },
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Hypoxia up-regulated protein 1",
                    "gene_name": "HYOU1",
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            ]
        },
        {
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q9Y4L1-1",
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                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
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                        {
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                            "id": "37074911",
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                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
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            ]
        },
        {
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                        {
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                    ]
                },
                {
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                    ],
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                                {
                                    "id": "1324",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
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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": "A female reproductive organ cancer that is located_in the uterus.",
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                            "evidence": [
                                {
                                    "id": "363",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:363"
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                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->YGT).",
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                    "chr_pos": "119049576",
                    "evidence": [
                        {
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                            "database": "dbSNP",
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                        {
                            "id": "rs2133574126",
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                        {
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            ]
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                {
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                        },
                        {
                            "id": "rs1944168165",
                            "database": "ENSEMBL",
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                    ]
                },
                {
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                            "database": "dbSNP",
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                        {
                            "id": "rs534349629",
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                        {
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                        {
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                        {
                            "id": "rs2133557957",
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                        },
                        {
                            "id": "rs2133557957",
                            "database": "ExAC",
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                        },
                        {
                            "id": "rs2133557957",
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                }
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                            "database": "dbSNP",
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                        {
                            "id": "rs2133551387",
                            "database": "gnomAD",
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                    ]
                },
                {
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                            "id": "rs2133551439",
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                            "id": "rs2133551439",
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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": "rs2133557957",
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                        },
                        {
                            "id": "rs2133557957",
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                        },
                        {
                            "id": "rs2133557957",
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                        {
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                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 750,
                    "chemical_mass": 85514.0
                }
            ]
        },
        {
            "start_pos": "145",
            "site_seq": "SCINESAIDSR",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
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                    "end_pos": 145,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Neprilysin",
                    "gene_name": "MME",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 85514.0
                }
            ]
        },
        {
            "start_pos": "285",
            "site_seq": "EIAnATAKPEDRNDPMLLYNK",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
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                    "end_pos": 285,
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                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
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                    ],
                    "protein_name": "Neprilysin",
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                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 85514.0
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P08473-1",
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                    "evidence": [
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                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
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                    ],
                    "protein_name": "Neprilysin",
                    "gene_name": "MME",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 85514.0
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            ]
        },
        {
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
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                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
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                    ],
                    "protein_name": "Neprilysin",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 85514.0
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            ]
        },
        {
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                {
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                        },
                        {
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                            "id": "GLY_000888",
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                    ],
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                    "chemical_mass": 85514.0
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            ]
        },
        {
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                    "chr_pos": "155116553",
                    "evidence": [
                        {
                            "id": "P08473",
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                    ],
                    "disease": [
                        {
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                            "evidence": [
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
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                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
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                        },
                        {
                            "database": "PDC",
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                    ],
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            ]
        },
        {
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                {
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                    "sequence_org": "N",
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                    "chr_pos": "155138234",
                    "evidence": [
                        {
                            "id": "rs1339178202",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339178202"
                        },
                        {
                            "id": "rs1339178202",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339178202"
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                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "I",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->IAT).",
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                    "chr_pos": "155138235",
                    "evidence": [
                        {
                            "id": "rs200961860",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200961860"
                        },
                        {
                            "id": "rs200961860",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200961860"
                        },
                        {
                            "id": "rs200961860",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200961860"
                        },
                        {
                            "id": "rs200961860",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs200961860",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs200961860"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAT->KAT).",
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                    "chr_pos": "155138236",
                    "evidence": [
                        {
                            "id": "P08473",
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                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P08473"
                        },
                        {
                            "id": "rs1434664230",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434664230"
                        },
                        {
                            "id": "rs1434664230",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434664230"
                        },
                        {
                            "id": "rs1434664230",
                            "database": "COSMIC",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1434664230"
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                    ],
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                                {
                                    "id": "1324",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
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                            ]
                        }
                    ]
                },
                {
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                        {
                            "id": "rs200961860",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs200961860",
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                        },
                        {
                            "id": "rs200961860",
                            "database": "ExAC",
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                        },
                        {
                            "id": "rs200961860",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs200961860",
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                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs200961860"
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                    ],
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                        {
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                            "evidence": [
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0110160",
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                            "evidence": [
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0110160",
                            "name": "Charcot-Marie-Tooth disease axonal type 2T",
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                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0110160",
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                                {
                                    "id": "0110160",
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                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
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                            ]
                        },
                        {
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                                {
                                    "id": "0110160",
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                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0111745",
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                            "evidence": [
                                {
                                    "id": "0111745",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                                },
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0111745",
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                            "evidence": [
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                                },
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
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                            ]
                        },
                        {
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                                {
                                    "id": "0111745",
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                                },
                                {
                                    "id": "0111745",
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                            ]
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                                    "id": "0111745",
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                                {
                                    "id": "0111745",
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                                },
                                {
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                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Neprilysin",
                    "gene_name": "MME",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 750,
                    "chemical_mass": 85514.0
                }
            ]
        },
        {
            "start_pos": "285",
            "site_seq": "EIAnATAKPEDRNDPMLLYNK",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
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                    "end_pos": 285,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        }
                    ],
                    "protein_name": "Neprilysin",
                    "gene_name": "MME",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 85514.0
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            ]
        },
        {
            "start_pos": "285",
            "site_seq": "EIAnATAKPEDR",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
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                    "end_pos": 285,
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                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        }
                    ],
                    "protein_name": "Neprilysin",
                    "gene_name": "MME",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 85514.0
                }
            ]
        },
        {
            "start_pos": "285",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
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                    "end_pos": 285,
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                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        }
                    ],
                    "protein_name": "Neprilysin",
                    "gene_name": "MME",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 85514.0
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            ]
        },
        {
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
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                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
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                    ],
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                    "tax_common_name": "Human",
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                    "chemical_mass": 85514.0
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            ]
        },
        {
            "start_pos": "145",
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            "site_lbl": "N145",
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                {
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                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NES->HES).",
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                    "chr_pos": "155116553",
                    "evidence": [
                        {
                            "id": "P08473",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P08473"
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                    ],
                    "disease": [
                        {
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                            "name": "stomach cancer",
                            "description": "A gastrointestinal system cancer that is located_in the stomach.",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "evidence": [
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Neprilysin",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 85514.0
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            ]
        },
        {
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            "residue": "",
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                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "D",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->DAT).",
                    "chr_id": "3",
                    "chr_pos": "155138234",
                    "evidence": [
                        {
                            "id": "rs1339178202",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339178202"
                        },
                        {
                            "id": "rs1339178202",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339178202"
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                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "I",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->IAT).",
                    "chr_id": "3",
                    "chr_pos": "155138235",
                    "evidence": [
                        {
                            "id": "rs200961860",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200961860"
                        },
                        {
                            "id": "rs200961860",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200961860"
                        },
                        {
                            "id": "rs200961860",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200961860"
                        },
                        {
                            "id": "rs200961860",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs200961860#frequency_tab"
                        },
                        {
                            "id": "rs200961860",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs200961860"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAT->KAT).",
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                    "chr_pos": "155138236",
                    "evidence": [
                        {
                            "id": "P08473",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P08473"
                        },
                        {
                            "id": "rs1434664230",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434664230"
                        },
                        {
                            "id": "rs1434664230",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434664230"
                        },
                        {
                            "id": "rs1434664230",
                            "database": "COSMIC",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1434664230"
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                    ],
                    "disease": [
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                            "name": "lung cancer",
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                            "url": "http://disease-ontology.org/term/DOID:1324",
                            "evidence": [
                                {
                                    "id": "1324",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
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                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).",
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                    "chr_pos": "155138235",
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                        {
                            "id": "rs200961860",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs200961860",
                            "database": "1000Genomes",
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                        },
                        {
                            "id": "rs200961860",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200961860"
                        },
                        {
                            "id": "rs200961860",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs200961860",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs200961860"
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                    ],
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                        {
                            "disease_id": "DOID:0110160",
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                            "url": "http://disease-ontology.org/term/DOID:0110160",
                            "evidence": [
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110160",
                            "name": "Charcot-Marie-Tooth disease axonal type 2T",
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                            "evidence": [
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0110160",
                            "name": "Charcot-Marie-Tooth disease axonal type 2T",
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                            "evidence": [
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0110160",
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                            "evidence": [
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0110160",
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                                {
                                    "id": "0110160",
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                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
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                            ]
                        },
                        {
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                                {
                                    "id": "0111745",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                                },
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0111745",
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                            "evidence": [
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                                },
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
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                            ]
                        },
                        {
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                                {
                                    "id": "0111745",
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                                },
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
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                            ]
                        },
                        {
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                                {
                                    "id": "0111745",
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                                },
                                {
                                    "id": "0111745",
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                        {
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                                    "id": "0111745",
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                                {
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
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                    "tax_common_name": "Human",
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        },
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            ]
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            ]
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                        {
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                        {
                            "id": "rs767941521",
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                        {
                            "id": "rs751957646",
                            "database": "TOPMed",
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                        {
                            "id": "rs751957646",
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                        {
                            "id": "rs1773682234",
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                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
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                            "id": "PDC000471",
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                    ],
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 161689.0
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            ]
        },
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                        {
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                            "id": "PDC000471",
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                    "chemical_mass": 161689.0
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            ]
        },
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                    "chr_pos": "73808150",
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                        {
                            "id": "Q6YHK3",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6YHK3"
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                        {
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                        },
                        {
                            "id": "rs767941521",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767941521"
                        },
                        {
                            "id": "rs767941521",
                            "database": "gnomAD",
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                    ],
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                                {
                                    "id": "9256",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:9256"
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                        }
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                }
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                        {
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            ]
        },
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                            "id": "rs751957646",
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                        {
                            "id": "rs751957646",
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751957646"
                        },
                        {
                            "id": "rs751957646",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs751957646#frequency_tab"
                        },
                        {
                            "id": "rs751957646",
                            "database": "gnomAD",
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                    ]
                }
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                {
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                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
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                        },
                        {
                            "database": "Data Submission",
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                        {
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                        {
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            ]
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                        },
                        {
                            "id": "rs1773682234",
                            "database": "ENSEMBL",
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                        {
                            "id": "rs1773682234",
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                    ],
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                        {
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                        {
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0111996"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111996",
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                            "description": "A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1.",
                            "url": "http://disease-ontology.org/term/DOID:0111996",
                            "evidence": [
                                {
                                    "id": "613953",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/613953"
                                },
                                {
                                    "id": "0111996",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111996"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111996",
                            "name": "immunodeficiency 51",
                            "description": "A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1.",
                            "url": "http://disease-ontology.org/term/DOID:0111996",
                            "evidence": [
                                {
                                    "id": "613953",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/613953"
                                },
                                {
                                    "id": "0111996",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111996"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111996",
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                            "url": "http://disease-ontology.org/term/DOID:0111996",
                            "evidence": [
                                {
                                    "id": "613953",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/613953"
                                },
                                {
                                    "id": "0111996",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111996"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111996",
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                                {
                                    "id": "613953",
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                                    "url": "https://www.omim.org/entry/613953"
                                },
                                {
                                    "id": "0111996",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111996"
                                }
                            ]
                        }
                    ]
                }
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                {
                    "uniprot_canonical_ac": "Q96F46-1",
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                            "id": "10.1101/2023.09.13.557529",
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                        },
                        {
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                    ],
                    "protein_name": "Interleukin-17 receptor A",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 96122.0
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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": "10.1101/2023.09.13.557529",
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                        },
                        {
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                            "id": "GLY_000888",
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                    ],
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            ]
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        {
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                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
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                    ],
                    "protein_name": "Amyloid-beta precursor protein",
                    "gene_name": "APP",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 86943.0
                }
            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P05067-1",
                    "start_pos": 542,
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Amyloid-beta precursor protein",
                    "gene_name": "APP",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 86943.0
                }
            ]
        },
        {
            "start_pos": "542",
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                {
                    "uniprot_canonical_ac": "P05067-1",
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                    "evidence": [
                        {
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                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Amyloid-beta precursor protein",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 86943.0
                }
            ]
        },
        {
            "start_pos": "571",
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                {
                    "uniprot_canonical_ac": "P05067-1",
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                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
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                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
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                    ],
                    "protein_name": "Amyloid-beta precursor protein",
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            ]
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        {
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                {
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                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
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                    ],
                    "protein_name": "Amyloid-beta precursor protein",
                    "gene_name": "APP",
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                    "chemical_mass": 86943.0
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            ]
        },
        {
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                            "id": "37074911",
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                        },
                        {
                            "database": "PDC",
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                    ],
                    "protein_name": "Amyloid-beta precursor protein",
                    "gene_name": "APP",
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            ]
        },
        {
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                {
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                        {
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                    ],
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            ]
        },
        {
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                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
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                        },
                        {
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                            "id": "GLY_000888",
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                    ],
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P05067-1",
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                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
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                    ],
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            ]
        },
        {
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                {
                    "weight": 100,
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->HQS).",
                    "chr_id": "21",
                    "chr_pos": "25954653",
                    "evidence": [
                        {
                            "id": "rs1347380777",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs1347380777",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347380777"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "I",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NQS->IQS).",
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                        {
                            "id": "P05067",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05067"
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                    ],
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                            "disease_id": "DOID:4159",
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                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.",
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                            "evidence": [
                                {
                                    "id": "4159",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:4159"
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                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->SQS).",
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                        {
                            "id": "rs1299179388",
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                        },
                        {
                            "id": "rs1299179388",
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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": "363",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:363"
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            ],
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                    ],
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        },
        {
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        {
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                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Amyloid-beta precursor protein",
                    "gene_name": "APP",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 770,
                    "chemical_mass": 86943.0
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            ]
        },
        {
            "start_pos": "571",
            "site_seq": "EQNYSDDVLANMISEPR",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P05067-1",
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                    "end_pos": 571,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        }
                    ],
                    "protein_name": "Amyloid-beta precursor protein",
                    "gene_name": "APP",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 86943.0
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            ]
        },
        {
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P05067-1",
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                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        }
                    ],
                    "protein_name": "Amyloid-beta precursor protein",
                    "gene_name": "APP",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 86943.0
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            ]
        },
        {
            "start_pos": "542",
            "site_seq": "",
            "site_lbl": "N542",
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                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "H",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->HQS).",
                    "chr_id": "21",
                    "chr_pos": "25954653",
                    "evidence": [
                        {
                            "id": "rs1347380777",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347380777"
                        },
                        {
                            "id": "rs1347380777",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347380777"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "I",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NQS->IQS).",
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                    "chr_pos": "25954652",
                    "evidence": [
                        {
                            "id": "P05067",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05067"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:4159",
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                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.",
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                            "evidence": [
                                {
                                    "id": "4159",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:4159"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->SQS).",
                    "chr_id": "21",
                    "chr_pos": "25954652",
                    "evidence": [
                        {
                            "id": "rs1299179388",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1299179388"
                        },
                        {
                            "id": "rs1299179388",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1299179388"
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                    ]
                }
            ],
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                {
                    "uniprot_canonical_ac": "P05067-1",
                    "start_pos": 542,
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
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                    ],
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                    "tax_common_name": "Human",
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            ]
        },
        {
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                {
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                    "evidence": [
                        {
                            "id": "P05067",
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                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05067"
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                    ],
                    "disease": [
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                            "disease_id": "DOID:363",
                            "name": "uterine cancer",
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                            "evidence": [
                                {
                                    "id": "363",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:363"
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                            ]
                        }
                    ]
                }
            ],
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                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
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                    ],
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            ]
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                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                            "database": "PDC",
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                    ],
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 126606.0
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            ]
        },
        {
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                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
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                            "id": "PDC000471",
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                    ],
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                        {
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                            "id": "PDC000471",
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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": "0111343",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111343"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111343",
                            "name": "lateral meningocele syndrome",
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                            "url": "http://disease-ontology.org/term/DOID:0111343",
                            "evidence": [
                                {
                                    "id": "130720",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/130720"
                                },
                                {
                                    "id": "0111343",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111343"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111343",
                            "name": "lateral meningocele syndrome",
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                            "url": "http://disease-ontology.org/term/DOID:0111343",
                            "evidence": [
                                {
                                    "id": "130720",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/130720"
                                },
                                {
                                    "id": "0111343",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111343"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0080109",
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                            "description": "A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.",
                            "url": "http://disease-ontology.org/term/DOID:0080109",
                            "evidence": [
                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
                                },
                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
                                },
                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0080109",
                            "name": "infantile myofibromatosis",
                            "description": "A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.",
                            "url": "http://disease-ontology.org/term/DOID:0080109",
                            "evidence": [
                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
                                },
                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
                                },
                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0080109",
                            "name": "infantile myofibromatosis",
                            "description": "A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.",
                            "url": "http://disease-ontology.org/term/DOID:0080109",
                            "evidence": [
                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
                                },
                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
                                },
                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "T",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->TGT).",
                    "chr_id": "19",
                    "chr_pos": "15179207",
                    "evidence": [
                        {
                            "id": "rs778548048",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778548048"
                        },
                        {
                            "id": "rs778548048",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778548048"
                        },
                        {
                            "id": "rs778548048",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs778548048"
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                    ]
                }
            ],
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                {
                    "uniprot_canonical_ac": "Q9UM47-1",
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                    "end_pos": 1179,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        }
                    ],
                    "protein_name": "Neurogenic locus notch homolog protein 3",
                    "gene_name": "NOTCH3",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 243631.0
                }
            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "Q9UM47-1",
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                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
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                    ],
                    "protein_name": "Neurogenic locus notch homolog protein 3",
                    "gene_name": "NOTCH3",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "Q9UM47-1",
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                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        }
                    ],
                    "protein_name": "Neurogenic locus notch homolog protein 3",
                    "gene_name": "NOTCH3",
                    "tax_id": 9606,
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "Q9UM47-1",
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                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
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                        }
                    ],
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                    "chemical_mass": 243631.0
                }
            ]
        },
        {
            "start_pos": "1179",
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                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->DGT).",
                    "chr_id": "19",
                    "chr_pos": "15179208",
                    "evidence": [
                        {
                            "id": "rs2046818353",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2046818353"
                        },
                        {
                            "id": "rs2046818353",
                            "database": "TOPMed",
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                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "I",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->IGT).",
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                    "chr_pos": "15179207",
                    "evidence": [
                        {
                            "id": "rs778548048",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs778548048",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778548048"
                        },
                        {
                            "id": "rs778548048",
                            "database": "gnomAD",
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                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->KGT).",
                    "chr_id": "19",
                    "chr_pos": "15179206",
                    "evidence": [
                        {
                            "id": "rs201850321",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201850321"
                        },
                        {
                            "id": "rs201850321",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201850321"
                        },
                        {
                            "id": "rs201850321",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201850321"
                        },
                        {
                            "id": "rs201850321",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs201850321"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).",
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                    "chr_pos": "15179207",
                    "evidence": [
                        {
                            "id": "rs778548048",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778548048"
                        },
                        {
                            "id": "rs778548048",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778548048"
                        },
                        {
                            "id": "rs778548048",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs778548048"
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                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:0111035",
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                            "url": "http://disease-ontology.org/term/DOID:0111035",
                            "evidence": [
                                {
                                    "id": "125310",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/125310"
                                },
                                {
                                    "id": "0111035",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111035"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111035",
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                            "url": "http://disease-ontology.org/term/DOID:0111035",
                            "evidence": [
                                {
                                    "id": "125310",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/125310"
                                },
                                {
                                    "id": "0111035",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111035"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111035",
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                            "evidence": [
                                {
                                    "id": "125310",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/125310"
                                },
                                {
                                    "id": "0111035",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111035"
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                            ]
                        },
                        {
                            "disease_id": "DOID:13945",
                            "name": "CADASIL",
                            "description": "A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.",
                            "url": "http://disease-ontology.org/term/DOID:13945",
                            "evidence": [
                                {
                                    "id": "600142",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600142"
                                },
                                {
                                    "id": "13945",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:13945"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:13945",
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                            "url": "http://disease-ontology.org/term/DOID:13945",
                            "evidence": [
                                {
                                    "id": "600142",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600142"
                                },
                                {
                                    "id": "13945",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:13945"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:13945",
                            "name": "CADASIL",
                            "description": "A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.",
                            "url": "http://disease-ontology.org/term/DOID:13945",
                            "evidence": [
                                {
                                    "id": "600142",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600142"
                                },
                                {
                                    "id": "13945",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:13945"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111343",
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                            "evidence": [
                                {
                                    "id": "130720",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/130720"
                                },
                                {
                                    "id": "0111343",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111343"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111343",
                            "name": "lateral meningocele syndrome",
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                            "evidence": [
                                {
                                    "id": "130720",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/130720"
                                },
                                {
                                    "id": "0111343",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111343"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111343",
                            "name": "lateral meningocele syndrome",
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                            "url": "http://disease-ontology.org/term/DOID:0111343",
                            "evidence": [
                                {
                                    "id": "130720",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/130720"
                                },
                                {
                                    "id": "0111343",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111343"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0080109",
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                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
                                },
                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
                                },
                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0080109",
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                                {
                                    "id": "0080109",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
                                },
                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
                                },
                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0080109",
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                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
                                },
                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
                                },
                                {
                                    "id": "0080109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080109"
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                            ]
                        }
                    ]
                },
                {
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                        {
                            "id": "rs778548048",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs778548048",
                            "database": "ExAC",
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                        },
                        {
                            "id": "rs778548048",
                            "database": "gnomAD",
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                    ]
                }
            ],
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                {
                    "uniprot_canonical_ac": "Q9UM47-1",
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                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
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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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                        {
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                    ]
                },
                {
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                    ],
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                                    "id": "1324",
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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://www.alliancegenome.org/disease/DOID:5041"
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                            ]
                        },
                        {
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                                {
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                                },
                                {
                                    "id": "10534",
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                            ]
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                    ]
                },
                {
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                        {
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                        {
                            "id": "rs750558783",
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                            ]
                        },
                        {
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                                    "id": "363",
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                        {
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                    ],
                    "protein_name": "Adhesion G protein-coupled receptor L2",
                    "gene_name": "ADGRL2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1459,
                    "chemical_mass": 163349.0
                }
            ]
        },
        {
            "start_pos": "731",
            "site_seq": "N",
            "site_lbl": "Asn731",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "O95490-1",
                    "start_pos": 731,
                    "end_pos": 731,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        },
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Adhesion G protein-coupled receptor L2",
                    "gene_name": "ADGRL2",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 163349.0
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            ]
        },
        {
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            "site_lbl": "N520",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "I",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NCT->ICT).",
                    "chr_id": "1",
                    "chr_pos": "81951084",
                    "evidence": [
                        {
                            "id": "O95490",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95490"
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                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:5041",
                            "name": "esophageal cancer",
                            "description": "A gastrointestinal system cancer that is located_in the esophagus.",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "evidence": [
                                {
                                    "id": "5041",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:5041"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10534",
                            "name": "stomach cancer",
                            "description": "A gastrointestinal system cancer that is located_in the stomach.",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "evidence": [
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NCT->KCT).",
                    "chr_id": "1",
                    "chr_pos": "81951085",
                    "evidence": [
                        {
                            "id": "O95490",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95490"
                        },
                        {
                            "id": "rs750558783",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750558783"
                        },
                        {
                            "id": "rs750558783",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750558783"
                        },
                        {
                            "id": "rs750558783",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs750558783#frequency_tab"
                        },
                        {
                            "id": "rs750558783",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs750558783"
                        },
                        {
                            "id": "rs750558783",
                            "database": "COSMIC",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs750558783"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung.",
                            "url": "http://disease-ontology.org/term/DOID:1324",
                            "evidence": [
                                {
                                    "id": "1324",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus.",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "evidence": [
                                {
                                    "id": "363",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:363"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->SCT).",
                    "chr_id": "1",
                    "chr_pos": "81951084",
                    "evidence": [
                        {
                            "id": "rs1230873479",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230873479"
                        },
                        {
                            "id": "rs1230873479",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230873479"
                        }
                    ]
                }
            ],
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
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                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Adhesion G protein-coupled receptor L2",
                    "gene_name": "ADGRL2",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 163349.0
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            ]
        },
        {
            "start_pos": "731",
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            "site_lbl": "N731",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->DAT).",
                    "chr_id": "1",
                    "chr_pos": "81966463",
                    "evidence": [
                        {
                            "id": "rs1166610234",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1166610234"
                        },
                        {
                            "id": "rs1166610234",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs1166610234#frequency_tab"
                        },
                        {
                            "id": "rs1166610234",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1166610234"
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                    ]
                },
                {
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                    ],
                    "disease": [
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                            "disease_id": "DOID:11934",
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                            "evidence": [
                                {
                                    "id": "11934",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:11934"
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                            ]
                        }
                    ]
                }
            ],
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                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
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                        },
                        {
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                        {
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                        {
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                        {
                            "id": "rs1180258274",
                            "database": "gnomAD",
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                    ]
                },
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                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "T",
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                    "evidence": [
                        {
                            "id": "P27487",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P27487"
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                    ],
                    "disease": [
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                            "disease_id": "DOID:1324",
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                                {
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                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
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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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                                    "database": "AGR",
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                        {
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                            "name": "stomach cancer",
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                                {
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                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
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                    ]
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                        {
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                        {
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                            "id": "10.1101/2023.09.13.557529",
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                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        }
                    ],
                    "protein_name": "Alpha-2,8-sialyltransferase 8B",
                    "gene_name": "ST8SIA2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 375,
                    "chemical_mass": 42430.0
                }
            ]
        },
        {
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            "site_seq": "N",
            "site_lbl": "Asn234",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q92186-1",
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                    "end_pos": 234,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        }
                    ],
                    "protein_name": "Alpha-2,8-sialyltransferase 8B",
                    "gene_name": "ST8SIA2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 42430.0
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            ]
        },
        {
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                {
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                    "sequence_org": "N",
                    "sequence_mut": "I",
                    "comment": "Germline mutation passed 0 out of 0 filters:",
                    "chr_id": "15",
                    "chr_pos": "92444788",
                    "evidence": [
                        {
                            "id": "rs756012214",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs756012214",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756012214"
                        },
                        {
                            "id": "rs756012214",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs756012214#frequency_tab"
                        },
                        {
                            "id": "rs756012214",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs756012214"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 0 out of 0 filters:",
                    "chr_id": "15",
                    "chr_pos": "92444789",
                    "evidence": [
                        {
                            "id": "rs200642073",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200642073"
                        },
                        {
                            "id": "rs200642073",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200642073"
                        },
                        {
                            "id": "rs200642073",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200642073"
                        },
                        {
                            "id": "rs200642073",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs200642073"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 0 out of 0 filters:",
                    "chr_id": "15",
                    "chr_pos": "92444788",
                    "evidence": [
                        {
                            "id": "rs756012214",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756012214"
                        },
                        {
                            "id": "rs756012214",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756012214"
                        },
                        {
                            "id": "rs756012214",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs756012214#frequency_tab"
                        },
                        {
                            "id": "rs756012214",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs756012214"
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q92186-1",
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                    "end_pos": 234,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        }
                    ],
                    "protein_name": "Alpha-2,8-sialyltransferase 8B",
                    "gene_name": "ST8SIA2",
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            ]
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                    "evidence": [
                        {
                            "database": "UniProtKB",
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                        },
                        {
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                            "id": "28810663",
                            "url": "https://glygen.org/publication/PubMed/28810663"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "evidence": [
                        {
                            "database": "UniProtKB",
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                            "url": "https://www.uniprot.org/uniprotkb/Q92186"
                        },
                        {
                            "database": "PubMed",
                            "id": "28810663",
                            "url": "https://glygen.org/publication/PubMed/28810663"
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                    ]
                }
            ],
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                {
                    "uniprot_canonical_ac": "Q92186-1",
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                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
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                    ],
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            ]
        },
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            "site_seq": "CLFYEVEVNNSQTETHNVFYVQEAK",
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                    "uniprot_canonical_ac": "P78552-1",
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                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
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                    ],
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            ]
        },
        {
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                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
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                    ],
                    "protein_name": "Interleukin-13 receptor subunit alpha-1",
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                    "chemical_mass": 48760.0
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            ]
        },
        {
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            "site_seq": "CLFYEVEVNNSQTETHNVFYVQEAK",
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                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
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                    ],
                    "protein_name": "Interleukin-13 receptor subunit alpha-1",
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                    "chemical_mass": 48760.0
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            ]
        },
        {
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                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
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                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
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                    ],
                    "protein_name": "Interleukin-13 receptor subunit alpha-1",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 48760.0
                }
            ]
        },
        {
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            "site_seq": "CLFYEVEVNNSQTETHNVFYVQEAK",
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                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
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                    ],
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 48760.0
                }
            ]
        },
        {
            "start_pos": "265",
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            "glycoprotein": [
                {
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                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        }
                    ],
                    "protein_name": "Interleukin-13 receptor subunit alpha-1",
                    "gene_name": "IL13RA1",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 48760.0
                }
            ]
        },
        {
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            "residue": "",
            "snv": [
                {
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                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NNS->KNS).",
                    "chr_id": "23",
                    "chr_pos": "118761256",
                    "evidence": [
                        {
                            "id": "P78552",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P78552"
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                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:3571",
                            "name": "liver cancer",
                            "description": "A hepatobiliary system cancer that is located_in the liver.",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "evidence": [
                                {
                                    "id": "3571",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3571"
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                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->SNS).",
                    "chr_id": "X",
                    "chr_pos": "118761255",
                    "evidence": [
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                            "id": "rs2017587463",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2017587463"
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                        {
                            "id": "rs2017587463",
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                    ]
                }
            ],
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                            "id": "10.1101/2023.09.13.557529",
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                    ],
                    "protein_name": "Interleukin-13 receptor subunit alpha-1",
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                    "chemical_mass": 48760.0
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            ]
        },
        {
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P78552-1",
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                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
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                            "id": "GLY_000888",
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                    ],
                    "protein_name": "Interleukin-13 receptor subunit alpha-1",
                    "gene_name": "IL13RA1",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                }
            ]
        },
        {
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            "site_lbl": "Asn265",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P78552-1",
                    "start_pos": 265,
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                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
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                            "id": "GLY_000888",
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                    ],
                    "protein_name": "Interleukin-13 receptor subunit alpha-1",
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            ]
        },
        {
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                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NNS->KNS).",
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                    ],
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                            "name": "liver cancer",
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                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "evidence": [
                                {
                                    "id": "3571",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3571"
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                        }
                    ]
                },
                {
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                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->SNS).",
                    "chr_id": "X",
                    "chr_pos": "118761255",
                    "evidence": [
                        {
                            "id": "rs2017587463",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2017587463"
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                        {
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                    ]
                }
            ],
            "glycoprotein": [
                {
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                    "evidence": [
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                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        }
                    ],
                    "protein_name": "Interleukin-13 receptor subunit alpha-1",
                    "gene_name": "IL13RA1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 48760.0
                }
            ]
        },
        {
            "start_pos": "1609",
            "site_seq": "QVTAYNAVNNSTVSRTSASKYENMIR",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q9HCM2-1",
                    "start_pos": 1609,
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                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "DOI",
                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
                        },
                        {
                            "database": "Data Submission",
                            "id": "GLY_000888",
                            "url": "http://data.glygen.org/GLY_000888"
                        }
                    ],
                    "protein_name": "Plexin-A4",
                    "gene_name": "PLXNA4",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1894,
                    "chemical_mass": 212455.0
                }
            ]
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                }
            ]
        },
        {
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                            "id": "10.1101/2023.09.13.557529",
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                    ],
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            ]
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                            "id": "10.1101/2023.09.13.557529",
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                        },
                        {
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                    ],
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                            "id": "10.1101/2023.09.13.557529",
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                        {
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                            "id": "10.1101/2023.09.13.557529",
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                            "id": "10.1101/2023.09.13.557529",
                            "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529"
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                        {
                            "database": "GlyGen",
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                    ],
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            ]
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                        },
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                        },
                        {
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                            "id": "10.1101/2023.09.13.557529",
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                        },
                        {
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                        {
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                            "id": "10.1101/2023.09.13.557529",
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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": "rs2144016609",
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            "site_seq": "KQGVLAVIDAYNTSNK",
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            "residue": "Asn",
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                {
                    "uniprot_canonical_ac": "P25391-1",
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                        {
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                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-1",
                    "gene_name": "LAMA1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3075,
                    "chemical_mass": 337084.0
                }
            ]
        },
        {
            "start_pos": "2619",
            "site_seq": "TInVSNLYVGGIPEGEGTSLLTMR",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P25391-1",
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-1",
                    "gene_name": "LAMA1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3075,
                    "chemical_mass": 337084.0
                }
            ]
        },
        {
            "start_pos": "2915",
            "site_seq": "VQSDVnITLEFR",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P25391-1",
                    "start_pos": 2915,
                    "end_pos": 2915,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-1",
                    "gene_name": "LAMA1",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 337084.0
                }
            ]
        },
        {
            "start_pos": "2915",
            "site_seq": "VQSDVNITLEFR",
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                {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-1",
                    "gene_name": "LAMA1",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 337084.0
                }
            ]
        },
        {
            "start_pos": "555",
            "site_seq": "HQVSInNTAVMQR",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P25391-1",
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                    "end_pos": 555,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-1",
                    "gene_name": "LAMA1",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3075,
                    "chemical_mass": 337084.0
                }
            ]
        },
        {
            "start_pos": "555",
            "site_seq": "HQVSINNTAVMQR",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P25391-1",
                    "start_pos": 555,
                    "end_pos": 555,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-1",
                    "gene_name": "LAMA1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3075,
                    "chemical_mass": 337084.0
                }
            ]
        },
        {
            "start_pos": "555",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P25391-1",
                    "start_pos": 555,
                    "end_pos": 555,
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-1",
                    "gene_name": "LAMA1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3075,
                    "chemical_mass": 337084.0
                }
            ]
        },
        {
            "start_pos": "2384",
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            "site_lbl": "N2384",
            "residue": "",
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                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "T",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->TGT).",
                    "chr_id": "18",
                    "chr_pos": "6965332",
                    "evidence": [
                        {
                            "id": "rs2144016609",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2144016609"
                        },
                        {
                            "id": "rs2144016609",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2144016609"
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P25391-1",
                    "start_pos": 2384,
                    "end_pos": 2384,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-1",
                    "gene_name": "LAMA1",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 337084.0
                }
            ]
        },
        {
            "start_pos": "2408",
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            "site_lbl": "N2408",
            "residue": "",
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                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->STS).",
                    "chr_id": "18",
                    "chr_pos": "6964776",
                    "evidence": [
                        {
                            "id": "rs2057624969",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2057624969"
                        },
                        {
                            "id": "rs2057624969",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs2057624969#frequency_tab"
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P25391-1",
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
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                    ],
                    "protein_name": "Laminin subunit alpha-1",
                    "gene_name": "LAMA1",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3075,
                    "chemical_mass": 337084.0
                }
            ]
        },
        {
            "start_pos": "2915",
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            "residue": "",
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                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NIT->SIT).",
                    "chr_id": "18",
                    "chr_pos": "6947263",
                    "evidence": [
                        {
                            "id": "P25391",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P25391"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:2531",
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                            "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "evidence": [
                                {
                                    "id": "2531",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:2531"
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                            ]
                        }
                    ]
                }
            ],
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                {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
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                        },
                        {
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                            "id": "PDC000471",
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                    ],
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            ]
        },
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                    "evidence": [
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                            "id": "rs1568041333",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs1568041333",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs1568041333"
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                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P25391-1",
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                        {
                            "database": "PubMed",
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                            "url": "https://glygen.org/publication/PubMed/37074911"
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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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                {
                    "uniprot_canonical_ac": "P05164-1",
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                        {
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                        {
                            "database": "PDC",
                            "id": "PDC000471",
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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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            ]
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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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                    "chemical_mass": 83869.0
                }
            ]
        },
        {
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            "glycoprotein": [
                {
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                        {
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                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
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                    ],
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            ]
        },
        {
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                {
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                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
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                            "id": "PDC000471",
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                    ],
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 83869.0
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            ]
        },
        {
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                {
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                    ],
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                    "gene_name": "MPO",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 83869.0
                }
            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P05164-1",
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                    "end_pos": 391,
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
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                            "id": "PDC000471",
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                    ],
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                    "tax_common_name": "Human",
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                    "chemical_mass": 83869.0
                }
            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P05164-1",
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                    "evidence": [
                        {
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                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
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                    ],
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                    "tax_common_name": "Human",
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                    "chemical_mass": 83869.0
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            ]
        },
        {
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                        {
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                        {
                            "id": "rs1197536833",
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                    ],
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                            "url": "http://disease-ontology.org/term/DOID:1324",
                            "evidence": [
                                {
                                    "id": "1324",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
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                            ]
                        }
                    ]
                },
                {
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200234386"
                        },
                        {
                            "id": "rs200234386",
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                        {
                            "id": "rs200234386",
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                        },
                        {
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                            "id": "37074911",
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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": "222448",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/222448"
                                },
                                {
                                    "id": "0090144",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090144"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0090144",
                            "name": "Donnai-Barrow syndrome",
                            "description": "A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31.",
                            "url": "http://disease-ontology.org/term/DOID:0090144",
                            "evidence": [
                                {
                                    "id": "222448",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/222448"
                                },
                                {
                                    "id": "0090144",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090144"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->SNT).",
                    "chr_id": "2",
                    "chr_pos": "169182221",
                    "evidence": [
                        {
                            "id": "rs772442505",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772442505"
                        },
                        {
                            "id": "rs772442505",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772442505"
                        },
                        {
                            "id": "rs772442505",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs772442505#frequency_tab"
                        },
                        {
                            "id": "rs772442505",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs772442505"
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P98164-1",
                    "start_pos": 3315,
                    "end_pos": 3315,
                    "residue": "Asn",
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Low-density lipoprotein receptor-related protein 2",
                    "gene_name": "LRP2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 521958.0
                }
            ]
        },
        {
            "start_pos": "3355",
            "site_seq": "",
            "site_lbl": "N3355",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->SKS).",
                    "chr_id": "2",
                    "chr_pos": "169181553",
                    "evidence": [
                        {
                            "id": "rs1314212964",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1314212964"
                        },
                        {
                            "id": "rs1314212964",
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                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1314212964"
                        }
                    ]
                }
            ],
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                {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
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                    ],
                    "protein_name": "Low-density lipoprotein receptor-related protein 2",
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                    "tax_common_name": "Human",
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                }
            ]
        },
        {
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            "site_lbl": "N3446",
            "residue": "",
            "snv": [
                {
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                    "sequence_org": "N",
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                    "evidence": [
                        {
                            "id": "rs1257823353",
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257823353"
                        },
                        {
                            "id": "rs1257823353",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs1257823353",
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                    ]
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            ],
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                    "uniprot_canonical_ac": "P98164-1",
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                    "protein_name": "Low-density lipoprotein receptor-related protein 2",
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                    ],
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                }
            ]
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        {
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                {
                    "uniprot_canonical_ac": "Q68CP4-1",
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                        {
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            ]
        },
        {
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                        {
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                    ],
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                    "gene_name": "HGSNAT",
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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": "10534",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
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                            ]
                        },
                        {
                            "disease_id": "DOID:5041",
                            "name": "esophageal cancer",
                            "description": "A gastrointestinal system cancer that is located_in the esophagus.",
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                                {
                                    "id": "5041",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:5041"
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                            ]
                        }
                    ]
                },
                {
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                    ],
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                            ]
                        },
                        {
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                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
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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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            ]
        },
        {
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                        {
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            ]
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                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "O60494-1",
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                        {
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                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Cubilin",
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                    "chemical_mass": 398736.0
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "O60494-1",
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
                            "database": "PDC",
                            "id": "PDC000471",
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                    ],
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            ]
        },
        {
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                        {
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                        {
                            "database": "PDC",
                            "id": "PDC000471",
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                    ],
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            ]
        },
        {
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                {
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                        {
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                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
                            "database": "PDC",
                            "id": "PDC000471",
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                    ],
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "O60494-1",
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                        {
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                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
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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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                    ]
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            ],
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                        {
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                    ],
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            ]
        },
        {
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                        {
                            "id": "rs1842615728",
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                    ]
                },
                {
                    "weight": 100,
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                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs765059540",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765059540"
                        },
                        {
                            "id": "rs765059540",
                            "database": "gnomAD",
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                    ]
                }
            ],
            "glycoprotein": [
                {
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                        {
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                        {
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                    ],
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            ]
        },
        {
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                {
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->HAS).",
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                        {
                            "id": "rs1842246414",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1842246414"
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                        {
                            "id": "rs1842246414",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs1842246414"
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                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "I",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->IAS).",
                    "chr_id": "10",
                    "chr_pos": "16928174",
                    "evidence": [
                        {
                            "id": "rs569527072",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569527072"
                        },
                        {
                            "id": "rs569527072",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs569527072"
                        },
                        {
                            "id": "rs569527072",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569527072"
                        },
                        {
                            "id": "rs569527072",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs569527072#frequency_tab"
                        },
                        {
                            "id": "rs569527072",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs569527072"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                        {
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            ]
        },
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                {
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                        {
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                    ],
                    "protein_name": "Sortilin-related receptor",
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            ]
        },
        {
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                        {
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            ]
        },
        {
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                            "id": "37074911",
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                        {
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                    ],
                    "protein_name": "Sortilin-related receptor",
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            ]
        },
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                {
                    "uniprot_canonical_ac": "Q92673-1",
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
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                    ],
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 248426.0
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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": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
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                            "id": "PDC000471",
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                    ],
                    "protein_name": "Sortilin-related receptor",
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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": "1612",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:1612"
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                    ]
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                    ],
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            ]
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                        {
                            "id": "rs1863678903",
                            "database": "gnomAD",
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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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                            "evidence": [
                                {
                                    "id": "4159",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:4159"
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                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMS->TMS).",
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                            "id": "rs766326995",
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                        {
                            "id": "rs766326995",
                            "database": "ExAC",
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                        {
                            "id": "rs766326995",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs766326995",
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            ],
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        },
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                        {
                            "id": "rs774648653",
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                        {
                            "id": "rs774648653",
                            "database": "gnomAD",
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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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            ]
        },
        {
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                    ],
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            ]
        },
        {
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                            "id": "37074911",
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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": "rs1863678903",
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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": "4159",
                                    "database": "AGR",
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                        }
                    ]
                },
                {
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                        {
                            "id": "rs766326995",
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                        {
                            "id": "rs766326995",
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                        {
                            "id": "rs766326995",
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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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                {
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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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                    ]
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                            "id": "rs771215576",
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                        {
                            "id": "rs771215576",
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                        {
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                        {
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                        {
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                        },
                        {
                            "id": "rs771215576",
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                            "url": "http://disease-ontology.org/term/DOID:0080380",
                            "evidence": [
                                {
                                    "id": "0080380",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080380"
                                },
                                {
                                    "id": "0080380",
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                            ]
                        },
                        {
                            "disease_id": "DOID:0080380",
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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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                        {
                            "database": "PDC",
                            "id": "PDC000471",
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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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                        {
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                        {
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                        {
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                        {
                            "id": "rs771215576",
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                                {
                                    "id": "0080380",
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                                {
                                    "id": "0080380",
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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": "10534",
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                                {
                                    "id": "10534",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
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        },
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            ]
        },
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                        {
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            ]
        },
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                        {
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                    ],
                    "protein_name": "Laminin subunit alpha-2",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 343905.0
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P24043-1",
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                        {
                            "database": "PDC",
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                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Laminin subunit alpha-2",
                    "gene_name": "LAMA2",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 343905.0
                }
            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P24043-1",
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Laminin subunit alpha-2",
                    "gene_name": "LAMA2",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 343905.0
                }
            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P24043-1",
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
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                    ],
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                    "gene_name": "LAMA2",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 343905.0
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            ]
        },
        {
            "start_pos": "2868",
            "site_seq": "QEGILYVDGASnR",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P24043-1",
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                    "end_pos": 2868,
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-2",
                    "gene_name": "LAMA2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 343905.0
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            ]
        },
        {
            "start_pos": "2868",
            "site_seq": "QEGILYVDGASNRTISPK",
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                {
                    "uniprot_canonical_ac": "P24043-1",
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                        {
                            "database": "PubMed",
                            "id": "37074911",
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                        },
                        {
                            "database": "PDC",
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                    ],
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                    "chemical_mass": 343905.0
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            ]
        },
        {
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                {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
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                    ],
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P24043-1",
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Laminin subunit alpha-2",
                    "gene_name": "LAMA2",
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                    "tax_name": "Homo sapiens",
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            ]
        },
        {
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                {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-2",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 343905.0
                }
            ]
        },
        {
            "start_pos": "1810",
            "site_seq": "",
            "site_lbl": "N1810",
            "residue": "",
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                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMT->KMT).",
                    "chr_id": "6",
                    "chr_pos": "129393240",
                    "evidence": [
                        {
                            "id": "rs1005888452",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1005888452"
                        },
                        {
                            "id": "rs1005888452",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs1005888452#frequency_tab"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NMT->SMT).",
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                    "chr_pos": "129393239",
                    "evidence": [
                        {
                            "id": "P24043",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P24043"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus.",
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                            "evidence": [
                                {
                                    "id": "363",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:363"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "null",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMT->nullMT).",
                    "chr_id": "6",
                    "chr_pos": "129393239",
                    "evidence": [
                        {
                            "id": "rs1211886873",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211886873"
                        }
                    ]
                }
            ],
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                {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
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                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
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                    ],
                    "protein_name": "Laminin subunit alpha-2",
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                    "chemical_mass": 343905.0
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            ]
        },
        {
            "start_pos": "1901",
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            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "chr_id": "6",
                    "chr_pos": "129402463",
                    "evidence": [
                        {
                            "id": "rs1583666878",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1583666878"
                        },
                        {
                            "id": "rs1583666878",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs1583666878"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "Y",
                    "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->YDS).",
                    "chr_id": "NC_000006.12",
                    "chr_pos": "129402462",
                    "evidence": []
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P24043-1",
                    "start_pos": 1901,
                    "end_pos": 1901,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-2",
                    "gene_name": "LAMA2",
                    "tax_id": 9606,
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                    "tax_common_name": "Human",
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                    "chemical_mass": 343905.0
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            ]
        },
        {
            "start_pos": "2868",
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            "site_lbl": "N2868",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "T",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NRT->TRT).",
                    "chr_id": "6",
                    "chr_pos": "129505255",
                    "evidence": [
                        {
                            "id": "P24043",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P24043"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:1324",
                            "name": "lung cancer",
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                            "evidence": [
                                {
                                    "id": "1324",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "null",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->nullRT).",
                    "chr_id": "6",
                    "chr_pos": "129505255",
                    "evidence": [
                        {
                            "id": "rs2533549889",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2533549889"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:0110636",
                            "name": "congenital merosin-deficient muscular dystrophy 1A",
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                            "url": "http://disease-ontology.org/term/DOID:0110636",
                            "evidence": [
                                {
                                    "id": "607855",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/607855"
                                },
                                {
                                    "id": "0110636",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110636"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0061132",
                            "name": "autosomal recessive limb-girdle muscular dystrophy type 23",
                            "description": "An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.",
                            "url": "http://disease-ontology.org/term/DOID:0061132",
                            "evidence": [
                                {
                                    "id": "618138",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/618138"
                                },
                                {
                                    "id": "0061132",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0061132"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P24043-1",
                    "start_pos": 2868,
                    "end_pos": 2868,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
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                        {
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            ]
        },
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                        {
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                    "protein_name": "Laminin subunit alpha-2",
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            ]
        },
        {
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                        {
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                            "id": "PDC000471",
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                    ],
                    "protein_name": "Laminin subunit alpha-2",
                    "gene_name": "LAMA2",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 343905.0
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            ]
        },
        {
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            "site_seq": "N",
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                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Laminin subunit alpha-2",
                    "gene_name": "LAMA2",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 343905.0
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P24043-1",
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
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                    ],
                    "protein_name": "Laminin subunit alpha-2",
                    "gene_name": "LAMA2",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 343905.0
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P24043-1",
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
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                    ],
                    "protein_name": "Laminin subunit alpha-2",
                    "gene_name": "LAMA2",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 343905.0
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            ]
        },
        {
            "start_pos": "2868",
            "site_seq": "QEGILYVDGASnR",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P24043-1",
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-2",
                    "gene_name": "LAMA2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 343905.0
                }
            ]
        },
        {
            "start_pos": "2868",
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                {
                    "uniprot_canonical_ac": "P24043-1",
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Laminin subunit alpha-2",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 343905.0
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P24043-1",
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
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                    ],
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                    "tax_common_name": "Human",
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                    "chemical_mass": 343905.0
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            ]
        },
        {
            "start_pos": "89",
            "site_seq": "ICNQnSSNPNQR",
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                {
                    "uniprot_canonical_ac": "P24043-1",
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Laminin subunit alpha-2",
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                    "chemical_mass": 343905.0
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            ]
        },
        {
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                {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
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                    ],
                    "protein_name": "Laminin subunit alpha-2",
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            ]
        },
        {
            "start_pos": "1810",
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            "residue": "",
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                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMT->KMT).",
                    "chr_id": "6",
                    "chr_pos": "129393240",
                    "evidence": [
                        {
                            "id": "rs1005888452",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1005888452"
                        },
                        {
                            "id": "rs1005888452",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs1005888452#frequency_tab"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NMT->SMT).",
                    "chr_id": "6",
                    "chr_pos": "129393239",
                    "evidence": [
                        {
                            "id": "P24043",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P24043"
                        }
                    ],
                    "disease": [
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                            "disease_id": "DOID:363",
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                            "description": "A female reproductive organ cancer that is located_in the uterus.",
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                            "evidence": [
                                {
                                    "id": "363",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:363"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "null",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMT->nullMT).",
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                    "chr_pos": "129393239",
                    "evidence": [
                        {
                            "id": "rs1211886873",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211886873"
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                    ]
                }
            ],
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                {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
                            "database": "PDC",
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                    ],
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                    "chemical_mass": 343905.0
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            ]
        },
        {
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                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->SDS).",
                    "chr_id": "6",
                    "chr_pos": "129402463",
                    "evidence": [
                        {
                            "id": "rs1583666878",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1583666878"
                        },
                        {
                            "id": "rs1583666878",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs1583666878"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "Y",
                    "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->YDS).",
                    "chr_id": "NC_000006.12",
                    "chr_pos": "129402462",
                    "evidence": []
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P24043-1",
                    "start_pos": 1901,
                    "end_pos": 1901,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-2",
                    "gene_name": "LAMA2",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 343905.0
                }
            ]
        },
        {
            "start_pos": "2868",
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            "site_lbl": "N2868",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "T",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NRT->TRT).",
                    "chr_id": "6",
                    "chr_pos": "129505255",
                    "evidence": [
                        {
                            "id": "P24043",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P24043"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:1324",
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                            "evidence": [
                                {
                                    "id": "1324",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "null",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->nullRT).",
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                    "chr_pos": "129505255",
                    "evidence": [
                        {
                            "id": "rs2533549889",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2533549889"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:0110636",
                            "name": "congenital merosin-deficient muscular dystrophy 1A",
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                            "url": "http://disease-ontology.org/term/DOID:0110636",
                            "evidence": [
                                {
                                    "id": "607855",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/607855"
                                },
                                {
                                    "id": "0110636",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110636"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0061132",
                            "name": "autosomal recessive limb-girdle muscular dystrophy type 23",
                            "description": "An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.",
                            "url": "http://disease-ontology.org/term/DOID:0061132",
                            "evidence": [
                                {
                                    "id": "618138",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/618138"
                                },
                                {
                                    "id": "0061132",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0061132"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P24043-1",
                    "start_pos": 2868,
                    "end_pos": 2868,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Laminin subunit alpha-2",
                    "gene_name": "LAMA2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3122,
                    "chemical_mass": 343905.0
                }
            ]
        },
        {
            "start_pos": "190",
            "site_seq": "N",
            "site_lbl": "Asn190",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P07686-1",
                    "start_pos": 190,
                    "end_pos": 190,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Beta-hexosaminidase subunit beta",
                    "gene_name": "HEXB",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 556,
                    "chemical_mass": 63137.0
                }
            ]
        },
        {
            "start_pos": "190",
            "site_seq": "GLETFSQLVYQDSYGTFTInESTIIDSPR",
            "site_lbl": "Asn190",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P07686-1",
                    "start_pos": 190,
                    "end_pos": 190,
                    "residue": "Asn",
                    "evidence": [
                        {
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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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                    "chemical_mass": 63137.0
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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": "363",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:363"
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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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                                {
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                            ]
                        },
                        {
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                                {
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                                {
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                                {
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                            "description": "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.",
                            "url": "http://disease-ontology.org/term/DOID:0080734",
                            "evidence": [
                                {
                                    "id": "0016002",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0016002"
                                },
                                {
                                    "id": "225400",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/225400"
                                },
                                {
                                    "id": "5351",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/5351#disease"
                                },
                                {
                                    "id": "0080734",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080734"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->SCS).",
                    "chr_id": "1",
                    "chr_pos": "11974681",
                    "evidence": [
                        {
                            "id": "rs747393648",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747393648"
                        },
                        {
                            "id": "rs747393648",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747393648"
                        },
                        {
                            "id": "rs747393648",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs747393648#frequency_tab"
                        },
                        {
                            "id": "rs747393648",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs747393648"
                        }
                    ],
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                        {
                            "disease_id": "DOID:0080734",
                            "name": "Ehlers-Danlos syndrome kyphoscoliotic type 1",
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                            "url": "http://disease-ontology.org/term/DOID:0080734",
                            "evidence": [
                                {
                                    "id": "0016002",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0016002"
                                },
                                {
                                    "id": "225400",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/225400"
                                },
                                {
                                    "id": "5351",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/5351#disease"
                                },
                                {
                                    "id": "0080734",
                                    "database": "AGR",
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                            ]
                        },
                        {
                            "disease_id": "DOID:0080734",
                            "name": "Ehlers-Danlos syndrome kyphoscoliotic type 1",
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                            "url": "http://disease-ontology.org/term/DOID:0080734",
                            "evidence": [
                                {
                                    "id": "0016002",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0016002"
                                },
                                {
                                    "id": "225400",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/225400"
                                },
                                {
                                    "id": "5351",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/5351#disease"
                                },
                                {
                                    "id": "0080734",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080734"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0080734",
                            "name": "Ehlers-Danlos syndrome kyphoscoliotic type 1",
                            "description": "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.",
                            "url": "http://disease-ontology.org/term/DOID:0080734",
                            "evidence": [
                                {
                                    "id": "0016002",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0016002"
                                },
                                {
                                    "id": "225400",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/225400"
                                },
                                {
                                    "id": "5351",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/5351#disease"
                                },
                                {
                                    "id": "0080734",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080734"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0080734",
                            "name": "Ehlers-Danlos syndrome kyphoscoliotic type 1",
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                            "url": "http://disease-ontology.org/term/DOID:0080734",
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                                {
                                    "id": "0016002",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0016002"
                                },
                                {
                                    "id": "225400",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/225400"
                                },
                                {
                                    "id": "5351",
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                                },
                                {
                                    "id": "0080734",
                                    "database": "AGR",
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                            ]
                        }
                    ]
                },
                {
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                        {
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                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:1324",
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                            "evidence": [
                                {
                                    "id": "1324",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
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                        }
                    ]
                }
            ],
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                {
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1",
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            ]
        },
        {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
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                    ],
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                    "chemical_mass": 83550.0
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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": "37074911",
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                        },
                        {
                            "database": "PDC",
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                    ],
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            ]
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                        {
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            ]
        },
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                            "database": "PubMed",
                            "id": "37074911",
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                        {
                            "database": "PDC",
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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": "rs750416079",
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                                {
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                                {
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                        {
                            "disease_id": "DOID:0080734",
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                                {
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                                {
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                        },
                        {
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                                {
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                                {
                                    "id": "0080734",
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                                {
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                                    "url": "https://monarchinitiative.org/disease/MONDO:0016002"
                                },
                                {
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                                },
                                {
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                                {
                                    "id": "0080734",
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                        {
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                    "chr_pos": "11966279",
                    "evidence": [
                        {
                            "id": "rs1324713201",
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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": "rs747393648",
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                        {
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                                {
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            ]
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                {
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                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2126689996"
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                        {
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                            "id": "rs2126689999",
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                        {
                            "id": "rs2126689999",
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                    ]
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                        {
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                        },
                        {
                            "id": "rs2126689999",
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                    ],
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                                {
                                    "id": "1612",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1612"
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                            ]
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                        {
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                        {
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                        {
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                        {
                            "id": "rs376125596",
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                        {
                            "id": "rs376125596",
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                        {
                            "id": "rs2126683430",
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                    ]
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                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:9256"
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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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                        {
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                    ],
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "O75629-1",
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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://glygen.org/publication/PubMed/37074911"
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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": "rs200733186",
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                    ],
                    "disease": [
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                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "evidence": [
                                {
                                    "id": "1612",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1612"
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                            ]
                        }
                    ]
                }
            ],
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                {
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                        {
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                    ],
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                        },
                        {
                            "id": "rs200705825",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200705825"
                        },
                        {
                            "id": "rs200705825",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs200705825#frequency_tab"
                        },
                        {
                            "id": "rs200705825",
                            "database": "gnomAD",
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                    ]
                },
                {
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                    ],
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                            "evidence": [
                                {
                                    "id": "11054",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:11054"
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                            ]
                        }
                    ]
                },
                {
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                        {
                            "id": "rs142779223",
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                        {
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                        {
                            "id": "rs142779223",
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                    ]
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                        {
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                        {
                            "id": "rs200705825",
                            "database": "TOPMed",
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                        {
                            "id": "rs200705825",
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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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                            "database": "PubMed",
                            "id": "37074911",
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                        },
                        {
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                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
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                    "chemical_mass": 343669.0
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            ]
        },
        {
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                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
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                    ],
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                    "gene_name": "COL6A3",
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            ]
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                        {
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                        {
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            ]
        },
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                        {
                            "database": "PubMed",
                            "id": "37074911",
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                        },
                        {
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                    ],
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                    "gene_name": "COL6A3",
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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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                                    "url": "https://www.alliancegenome.org/disease/DOID:5041"
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                            ]
                        },
                        {
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                            "name": "stomach cancer",
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                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                }
                            ]
                        },
                        {
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                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
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                        }
                    ]
                },
                {
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                            "id": "rs2106342283",
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                        {
                            "id": "rs2106342283",
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                    ],
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                            "evidence": [
                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0050663",
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                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
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                        {
                            "database": "PubMed",
                            "id": "37074911",
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                        {
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                        {
                            "id": "rs1022266665",
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                    ],
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                                {
                                    "id": "2531",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:2531"
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                            ]
                        },
                        {
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                                {
                                    "id": "158810",
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                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
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                            ]
                        },
                        {
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                                    "id": "158810",
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                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
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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": 2079,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3177,
                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "2079",
            "site_seq": "N",
            "site_lbl": "Asn2079",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 2079,
                    "end_pos": 2079,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3177,
                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "2558",
            "site_seq": "QLINALQInNTAVGHALVLPAGR",
            "site_lbl": "Asn2558",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 2558,
                    "end_pos": 2558,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3177,
                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "2558",
            "site_seq": "N",
            "site_lbl": "Asn2558",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 2558,
                    "end_pos": 2558,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3177,
                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "2079",
            "site_seq": "",
            "site_lbl": "N2079",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGT->SGT).",
                    "chr_id": "2",
                    "chr_pos": "237360134",
                    "evidence": [
                        {
                            "id": "P12111",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P12111"
                        },
                        {
                            "id": "rs2469862004",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2469862004"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:5041",
                            "name": "esophageal cancer",
                            "description": "A gastrointestinal system cancer that is located_in the esophagus.",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "evidence": [
                                {
                                    "id": "5041",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:5041"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10534",
                            "name": "stomach cancer",
                            "description": "A gastrointestinal system cancer that is located_in the stomach.",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "evidence": [
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050663",
                            "name": "Bethlem myopathy",
                            "description": "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.",
                            "url": "http://disease-ontology.org/term/DOID:0050663",
                            "evidence": [
                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "Y",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->YGT).",
                    "chr_id": "2",
                    "chr_pos": "237360135",
                    "evidence": [
                        {
                            "id": "rs2106342283",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2106342283"
                        },
                        {
                            "id": "rs2106342283",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs2106342283"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:0050663",
                            "name": "Bethlem myopathy",
                            "description": "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.",
                            "url": "http://disease-ontology.org/term/DOID:0050663",
                            "evidence": [
                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050663",
                            "name": "Bethlem myopathy",
                            "description": "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.",
                            "url": "http://disease-ontology.org/term/DOID:0050663",
                            "evidence": [
                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 2079,
                    "end_pos": 2079,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3177,
                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "2558",
            "site_seq": "",
            "site_lbl": "N2558",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NNT->SNT).",
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                    "chr_pos": "237342157",
                    "evidence": [
                        {
                            "id": "P12111",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P12111"
                        },
                        {
                            "id": "rs1022266665",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1022266665"
                        },
                        {
                            "id": "rs1022266665",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1022266665"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:2531",
                            "name": "hematologic cancer",
                            "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "evidence": [
                                {
                                    "id": "2531",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:2531"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050663",
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                            "url": "http://disease-ontology.org/term/DOID:0050663",
                            "evidence": [
                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050663",
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                            "evidence": [
                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 2558,
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                    "residue": "Asn",
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                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3177,
                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "131",
            "site_seq": "TFAVYLnNTGYR",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q8IWU6-1",
                    "start_pos": 131,
                    "end_pos": 131,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Extracellular sulfatase Sulf-1",
                    "gene_name": "SULF1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 871,
                    "chemical_mass": 101027.0
                }
            ]
        },
        {
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            "site_seq": "N",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q8IWU6-1",
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                    "residue": "Asn",
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
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                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Extracellular sulfatase Sulf-1",
                    "gene_name": "SULF1",
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                    "chemical_mass": 101027.0
                }
            ]
        },
        {
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                    "uniprot_canonical_ac": "Q8IWU6-1",
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                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Extracellular sulfatase Sulf-1",
                    "gene_name": "SULF1",
                    "tax_id": 9606,
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                    "tax_common_name": "Human",
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                    "chemical_mass": 101027.0
                }
            ]
        },
        {
            "start_pos": "148",
            "site_seq": "YLNEYnGSYIPPGWR",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q8IWU6-1",
                    "start_pos": 148,
                    "end_pos": 148,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
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                    ],
                    "protein_name": "Extracellular sulfatase Sulf-1",
                    "gene_name": "SULF1",
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                }
            ]
        },
        {
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q8IWU6-1",
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                    "residue": "Asn",
                    "evidence": [
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                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
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                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Extracellular sulfatase Sulf-1",
                    "gene_name": "SULF1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 101027.0
                }
            ]
        },
        {
            "start_pos": "170",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q8IWU6-1",
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                    "end_pos": 170,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
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                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
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                            "id": "PDC000471",
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                        }
                    ],
                    "protein_name": "Extracellular sulfatase Sulf-1",
                    "gene_name": "SULF1",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 101027.0
                }
            ]
        },
        {
            "start_pos": "170",
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                {
                    "uniprot_canonical_ac": "Q8IWU6-1",
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                    "evidence": [
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                            "id": "37074911",
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                        },
                        {
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                        }
                    ],
                    "protein_name": "Extracellular sulfatase Sulf-1",
                    "gene_name": "SULF1",
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                    "chemical_mass": 101027.0
                }
            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "Q8IWU6-1",
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Extracellular sulfatase Sulf-1",
                    "gene_name": "SULF1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 871,
                    "chemical_mass": 101027.0
                }
            ]
        },
        {
            "start_pos": "197",
            "site_seq": "DYFTDLITnESINYFK",
            "site_lbl": "Asn197",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q8IWU6-1",
                    "start_pos": 197,
                    "end_pos": 197,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Extracellular sulfatase Sulf-1",
                    "gene_name": "SULF1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 871,
                    "chemical_mass": 101027.0
                }
            ]
        },
        {
            "start_pos": "197",
            "site_seq": "N",
            "site_lbl": "Asn197",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q8IWU6-1",
                    "start_pos": 197,
                    "end_pos": 197,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
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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": "rs753921101",
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                        {
                            "id": "rs753921101",
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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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        {
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                    "tax_common_name": "Human",
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                    "chemical_mass": 49405.0
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            ]
        },
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            ]
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                        {
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                    ],
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                    "tax_common_name": "Human",
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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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                        {
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                    ],
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            ]
        },
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                    "chr_pos": "122282126",
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                        {
                            "id": "rs201202700",
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                        {
                            "id": "rs201202700",
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                        {
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                        {
                            "id": "rs201202700",
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                    ]
                },
                {
                    "weight": 100,
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                        {
                            "id": "rs201202700",
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                        {
                            "id": "rs201202700",
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                        {
                            "id": "rs201202700",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs201202700",
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                    ],
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                            "evidence": [
                                {
                                    "id": "0090107",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
                                },
                                {
                                    "id": "0090107",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0090107",
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                            "description": "An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21.",
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                                {
                                    "id": "0090107",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
                                },
                                {
                                    "id": "0090107",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0090107",
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                                {
                                    "id": "0090107",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
                                },
                                {
                                    "id": "0090107",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0090107",
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                            "evidence": [
                                {
                                    "id": "0090107",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
                                },
                                {
                                    "id": "0090107",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0090109",
                            "name": "autosomal dominant hypocalcemia",
                            "description": "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.",
                            "url": "http://disease-ontology.org/term/DOID:0090109",
                            "evidence": [
                                {
                                    "id": "0090109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0090109",
                            "name": "autosomal dominant hypocalcemia",
                            "description": "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.",
                            "url": "http://disease-ontology.org/term/DOID:0090109",
                            "evidence": [
                                {
                                    "id": "0090109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0090109",
                            "name": "autosomal dominant hypocalcemia",
                            "description": "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.",
                            "url": "http://disease-ontology.org/term/DOID:0090109",
                            "evidence": [
                                {
                                    "id": "0090109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0090109",
                            "name": "autosomal dominant hypocalcemia",
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                            "url": "http://disease-ontology.org/term/DOID:0090109",
                            "evidence": [
                                {
                                    "id": "0090109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0111322",
                            "name": "obsolete idiopathic generalized epilepsy 8",
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                            "evidence": [
                                {
                                    "id": "612899",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/612899"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0111322",
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                            "evidence": [
                                {
                                    "id": "612899",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/612899"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0111322",
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                                {
                                    "id": "612899",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/612899"
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                            ]
                        },
                        {
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                            "evidence": [
                                {
                                    "id": "612899",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/612899"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0060699",
                            "name": "familial hypocalciuric hypercalcemia",
                            "description": "A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.",
                            "url": "http://disease-ontology.org/term/DOID:0060699",
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                                    "id": "145980",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/145980"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0060699",
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                                    "id": "145980",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/145980"
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                            ]
                        },
                        {
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                            ]
                        },
                        {
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                                    "id": "145980",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/145980"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0060700",
                            "name": "familial hypocalciuric hypercalcemia 1",
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                                {
                                    "id": "0060700",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0060700"
                                },
                                {
                                    "id": "0060700",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0060700"
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                            ]
                        },
                        {
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                                {
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                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0060700"
                                },
                                {
                                    "id": "0060700",
                                    "database": "AGR",
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                            ]
                        },
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                                {
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0060700"
                                },
                                {
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                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0060700"
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                            ]
                        },
                        {
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                                {
                                    "id": "0060700",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0060700"
                                },
                                {
                                    "id": "0060700",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0060700"
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                            ]
                        }
                    ]
                },
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                        {
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                        {
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                                {
                                    "id": "0090107",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
                                },
                                {
                                    "id": "0090107",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0090107",
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                                {
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                            ]
                        },
                        {
                            "disease_id": "DOID:0090107",
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                                {
                                    "id": "0090107",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
                                },
                                {
                                    "id": "0090107",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0090107",
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                            "evidence": [
                                {
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
                                },
                                {
                                    "id": "0090107",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
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                            ]
                        },
                        {
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                                {
                                    "id": "0090109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0090109",
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                            "evidence": [
                                {
                                    "id": "0090109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
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                            ]
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                        {
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                                {
                                    "id": "0090109",
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                            ]
                        },
                        {
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                }
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                {
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                            "id": "37074911",
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                        },
                        {
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                            "id": "PDC000471",
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                    ],
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 120675.0
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            ]
        },
        {
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                        {
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                    ],
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                    "tax_common_name": "Human",
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            ]
        },
        {
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                        {
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                    ],
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            ]
        },
        {
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                    "weight": 100,
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                    "chr_pos": "122282126",
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                        {
                            "id": "rs201202700",
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                        {
                            "id": "rs201202700",
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                        {
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                        {
                            "id": "rs201202700",
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                    ]
                },
                {
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                        {
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                        {
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                            "database": "TOPMed",
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                        {
                            "id": "rs201202700",
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                            "evidence": [
                                {
                                    "id": "0090107",
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                                {
                                    "id": "0090107",
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                        {
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                                {
                                    "id": "0090107",
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                                },
                                {
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                        },
                        {
                            "disease_id": "DOID:0090107",
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                                {
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                                },
                                {
                                    "id": "0090107",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0090107",
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                                {
                                    "id": "0090107",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
                                },
                                {
                                    "id": "0090107",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0090109",
                            "name": "autosomal dominant hypocalcemia",
                            "description": "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.",
                            "url": "http://disease-ontology.org/term/DOID:0090109",
                            "evidence": [
                                {
                                    "id": "0090109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0090109",
                            "name": "autosomal dominant hypocalcemia",
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                            "evidence": [
                                {
                                    "id": "0090109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0090109",
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                            "evidence": [
                                {
                                    "id": "0090109",
                                    "database": "AGR",
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                            ]
                        },
                        {
                            "disease_id": "DOID:0090109",
                            "name": "autosomal dominant hypocalcemia",
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                            "evidence": [
                                {
                                    "id": "0090109",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090109"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0111322",
                            "name": "obsolete idiopathic generalized epilepsy 8",
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                            "url": "http://disease-ontology.org/term/DOID:0111322",
                            "evidence": [
                                {
                                    "id": "612899",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/612899"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0111322",
                            "name": "obsolete idiopathic generalized epilepsy 8",
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                            "url": "http://disease-ontology.org/term/DOID:0111322",
                            "evidence": [
                                {
                                    "id": "612899",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/612899"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111322",
                            "name": "obsolete idiopathic generalized epilepsy 8",
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                            "evidence": [
                                {
                                    "id": "612899",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/612899"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0111322",
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                            "evidence": [
                                {
                                    "id": "612899",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/612899"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0060699",
                            "name": "familial hypocalciuric hypercalcemia",
                            "description": "A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.",
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                                    "id": "145980",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/145980"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0060699",
                            "name": "familial hypocalciuric hypercalcemia",
                            "description": "A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.",
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                            "evidence": [
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                                    "id": "145980",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/145980"
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                            ]
                        },
                        {
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                            "name": "familial hypocalciuric hypercalcemia",
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                                    "url": "https://www.omim.org/entry/145980"
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                            ]
                        },
                        {
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                            "description": "A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.",
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                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/145980"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0060700",
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                                {
                                    "id": "0060700",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0060700"
                                },
                                {
                                    "id": "0060700",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0060700"
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                            ]
                        },
                        {
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                                {
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                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0060700"
                                },
                                {
                                    "id": "0060700",
                                    "database": "AGR",
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                        },
                        {
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                                {
                                    "id": "0060700",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0060700"
                                },
                                {
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                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0060700"
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                        },
                        {
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                                {
                                    "id": "0060700",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0060700"
                                },
                                {
                                    "id": "0060700",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0060700"
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                            ]
                        }
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                },
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                        {
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                        {
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                                {
                                    "id": "0090107",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
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                                {
                                    "id": "0090107",
                                    "database": "AGR",
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                            ]
                        },
                        {
                            "disease_id": "DOID:0090107",
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                                {
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                        },
                        {
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                                {
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
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                                {
                                    "id": "0090107",
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                        },
                        {
                            "disease_id": "DOID:0090107",
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                                {
                                    "id": "0090107",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
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                                {
                                    "id": "0090107",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0090107"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0090109",
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                                {
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                        {
                            "disease_id": "DOID:0090109",
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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": "rs2308927",
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                    ],
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                                {
                                    "id": "363",
                                    "database": "AGR",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->KVS).",
                    "chr_id": "21",
                    "chr_pos": "44865401",
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                        {
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372701822"
                        },
                        {
                            "id": "rs372701822",
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                        },
                        {
                            "id": "rs372701822",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs372701822#frequency_tab"
                        },
                        {
                            "id": "rs372701822",
                            "database": "gnomAD",
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                    ]
                }
            ],
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                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
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                            "id": "PDC000471",
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                    ],
                    "protein_name": "Pituitary tumor-transforming gene 1 protein-interacting protein",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 20324.0
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            ]
        },
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                        {
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                    "chemical_mass": 29159.0
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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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                        {
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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": "rs201365993",
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                    ]
                },
                {
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                        {
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                    ]
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                    "tax_common_name": "Human",
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                    "chemical_mass": 53860.0
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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": "rs781832806",
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                    ]
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                        {
                            "id": "rs201365993",
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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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            ]
        },
        {
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                        {
                            "database": "PDC",
                            "id": "PDC000471",
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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": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
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                            ]
                        },
                        {
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                                {
                                    "id": "0081401",
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                            ]
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                            "disease_id": "DOID:0081401",
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                                {
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                                {
                                    "id": "0081401",
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                                {
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                            "id": "14981520",
                            "database": "PubMed",
                            "url": "https://glygen.org/publication/PubMed/14981520"
                        },
                        {
                            "id": "15732094",
                            "database": "PubMed",
                            "url": "https://glygen.org/publication/PubMed/15732094"
                        },
                        {
                            "id": "16427281",
                            "database": "PubMed",
                            "url": "https://glygen.org/publication/PubMed/16427281"
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                        {
                            "id": "1674639",
                            "database": "PubMed",
                            "url": "https://glygen.org/publication/PubMed/1674639"
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                        {
                            "id": "19396477",
                            "database": "PubMed",
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                        {
                            "id": "23553728",
                            "database": "PubMed",
                            "url": "https://glygen.org/publication/PubMed/23553728"
                        },
                        {
                            "id": "5964029",
                            "database": "PubMed",
                            "url": "https://glygen.org/publication/PubMed/5964029"
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                    ],
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                                {
                                    "id": "0110770",
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                        {
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                                {
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                                {
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                                {
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                                {
                                    "id": "0110770",
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                        {
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                                {
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                        {
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                                {
                                    "id": "0110770",
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                        {
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                                {
                                    "id": "0110770",
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                        {
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                                {
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                                {
                                    "id": "0110770",
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                        {
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                                {
                                    "id": "0110770",
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                            ]
                        },
                        {
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                                {
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                        },
                        {
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                                {
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                        },
                        {
                            "disease_id": "DOID:0111203",
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                                {
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                        },
                        {
                            "disease_id": "DOID:0111203",
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                                {
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                        },
                        {
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                                {
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                        },
                        {
                            "disease_id": "DOID:0111203",
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                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
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                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111203",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 5",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14.",
                            "url": "http://disease-ontology.org/term/DOID:0111203",
                            "evidence": [
                                {
                                    "id": "600794",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/600794"
                                },
                                {
                                    "id": "0111203",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111203"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110770",
                            "name": "hereditary spastic paraplegia 17",
                            "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0110770",
                            "evidence": [
                                {
                                    "id": "270685",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/270685"
                                },
                                {
                                    "id": "0110770",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110770"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
                                    "id": "619112",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/619112"
                                },
                                {
                                    "id": "0081401",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0081401"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0081401",
                            "name": "autosomal dominant distal hereditary motor neuronopathy 13",
                            "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12.",
                            "url": "http://disease-ontology.org/term/DOID:0081401",
                            "evidence": [
                                {
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                {
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                        }
                    ],
                    "protein_name": "EMILIN-2",
                    "gene_name": "EMILIN2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1053,
                    "chemical_mass": 115687.0
                }
            ]
        },
        {
            "start_pos": "745",
            "site_seq": "",
            "site_lbl": "N745",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "H",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->HGT).",
                    "chr_id": "18",
                    "chr_pos": "2892360",
                    "evidence": [
                        {
                            "id": "rs2076842870",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2076842870"
                        },
                        {
                            "id": "rs2076842870",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs2076842870#frequency_tab"
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q9BXX0-1",
                    "start_pos": 745,
                    "end_pos": 745,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "EMILIN-2",
                    "gene_name": "EMILIN2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1053,
                    "chemical_mass": 115687.0
                }
            ]
        }
    ],
    "record_id": "G02815KT"
}
