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                        }
                    ],
                    "protein_name": "N-acetylglucosamine-6-sulfatase",
                    "gene_name": "GNS",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 552,
                    "chemical_mass": 62082.0
                }
            ]
        },
        {
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            "glycoprotein": [
                {
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                        {
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                    ],
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                    "tax_common_name": "Human",
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            ]
        },
        {
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                            "id": "37074911",
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                        {
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                }
            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P15586-1",
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                            "id": "10.1101/2023.09.13.557529",
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                        },
                        {
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                    ],
                    "protein_name": "N-acetylglucosamine-6-sulfatase",
                    "gene_name": "GNS",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 552,
                    "chemical_mass": 62082.0
                }
            ]
        },
        {
            "start_pos": "198",
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            "glycoprotein": [
                {
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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": "N-acetylglucosamine-6-sulfatase",
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                    "chemical_mass": 62082.0
                }
            ]
        },
        {
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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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                {
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                    "chr_pos": "64747838",
                    "evidence": [
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                            "id": "P15586",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P15586"
                        },
                        {
                            "id": "rs1199190795",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1199190795"
                        },
                        {
                            "id": "rs1199190795",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs1199190795#frequency_tab"
                        },
                        {
                            "id": "rs1199190795",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1199190795"
                        },
                        {
                            "id": "rs1199190795",
                            "database": "COSMIC",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1199190795"
                        }
                    ],
                    "disease": [
                        {
                            "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:0111402",
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                            "description": "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.",
                            "url": "http://disease-ontology.org/term/DOID:0111402",
                            "evidence": [
                                {
                                    "id": "0009658",
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                                    "url": "https://monarchinitiative.org/disease/MONDO:0009658"
                                },
                                {
                                    "id": "252940",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252940"
                                },
                                {
                                    "id": "2799",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/2799#disease"
                                },
                                {
                                    "id": "0111402",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111402"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111402",
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                                    "id": "0009658",
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                                },
                                {
                                    "id": "252940",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252940"
                                },
                                {
                                    "id": "2799",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/2799#disease"
                                },
                                {
                                    "id": "0111402",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111402"
                                }
                            ]
                        },
                        {
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                                {
                                    "id": "0009658",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0009658"
                                },
                                {
                                    "id": "252940",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252940"
                                },
                                {
                                    "id": "2799",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/2799#disease"
                                },
                                {
                                    "id": "0111402",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111402"
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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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                            "id": "rs1869850356",
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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",
                            "url": "http://data.glygen.org/GLY_000888"
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                    ],
                    "protein_name": "N-acetylglucosamine-6-sulfatase",
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                    "chemical_mass": 62082.0
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            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "Q6N043-1",
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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",
                            "url": "http://data.glygen.org/GLY_000888"
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                    ],
                    "protein_name": "Zinc finger protein 280D",
                    "gene_name": "ZNF280D",
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                    "chemical_mass": 109285.0
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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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                    ],
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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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                    ],
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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"
                        },
                        {
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                            "id": "GLY_000888",
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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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                    "chemical_mass": 63108.0
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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",
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                    ],
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                    "chemical_mass": 63108.0
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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": "Q86YQ8",
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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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                            "id": "rs754910633",
                            "database": "dbSNP",
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                        {
                            "id": "rs754910633",
                            "database": "ExAC",
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                        },
                        {
                            "id": "rs754910633",
                            "database": "gnomAD",
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                    ]
                }
            ],
            "glycoprotein": [
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                            "id": "GLY_000888",
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                        {
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                        {
                            "id": "rs145838840",
                            "database": "ExAC",
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                        {
                            "id": "rs145838840",
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                        },
                        {
                            "id": "rs145838840",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs145838840"
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                            "url": "http://disease-ontology.org/term/DOID:0112297",
                            "evidence": [
                                {
                                    "id": "0112297",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0112297"
                                },
                                {
                                    "id": "0112297",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0112297"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0112297",
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                                {
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0112297"
                                },
                                {
                                    "id": "0112297",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0112297"
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                            ]
                        },
                        {
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                                },
                                {
                                    "id": "0112297",
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                        },
                        {
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0112297"
                                },
                                {
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                        {
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                                    "id": "0112297",
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                                {
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NET->YET).",
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                            "id": "rs768650910",
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                        {
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                        {
                            "id": "rs749189506",
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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": "rs145819878",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs145819878"
                        },
                        {
                            "id": "rs145819878",
                            "database": "COSMIC",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145819878"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:263",
                            "name": "kidney cancer",
                            "description": "A urinary system cancer that is located_in the kidney.",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "evidence": [
                                {
                                    "id": "263",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:263"
                                }
                            ]
                        }
                    ]
                }
            ],
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                {
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                    "end_pos": 127,
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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": "Alpha-1-antichymotrypsin",
                    "gene_name": "SERPINA3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 423,
                    "chemical_mass": 47651.0
                }
            ]
        },
        {
            "start_pos": "93",
            "site_seq": "",
            "site_lbl": "N93",
            "residue": "",
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                {
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                    "sequence_org": "N",
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                    "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->DTT).",
                    "chr_id": "14",
                    "chr_pos": "94614718",
                    "evidence": [
                        {
                            "id": "rs542942614",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542942614"
                        },
                        {
                            "id": "rs542942614",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542942614"
                        },
                        {
                            "id": "rs542942614",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs542942614"
                        },
                        {
                            "id": "rs542942614",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs542942614#frequency_tab"
                        },
                        {
                            "id": "rs542942614",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs542942614"
                        },
                        {
                            "id": "rs542942614",
                            "database": "COSMIC",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs542942614"
                        }
                    ]
                },
                {
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                    "sequence_org": "N",
                    "sequence_mut": "H",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NTT->HTT).",
                    "chr_id": "14",
                    "chr_pos": "94614718",
                    "evidence": [
                        {
                            "id": "P01011",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P01011"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "evidence": [
                                {
                                    "id": "4159",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:4159"
                                }
                            ]
                        }
                    ]
                },
                {
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                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->KTT).",
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                    "chr_pos": "94614720",
                    "evidence": [
                        {
                            "id": "rs1031881430",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1031881430"
                        },
                        {
                            "id": "rs1031881430",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs1031881430"
                        }
                    ]
                }
            ],
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                            "id": "37074911",
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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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                {
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                        {
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                    ],
                    "protein_name": "Complement factor H-related protein 1",
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                    "tax_common_name": "Human",
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            ]
        },
        {
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                        {
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                        }
                    ],
                    "protein_name": "Complement factor H-related protein 1",
                    "gene_name": "CFHR1",
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                    "chemical_mass": 37651.0
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            ]
        },
        {
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                        },
                        {
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                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Complement factor H-related protein 1",
                    "gene_name": "CFHR1",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 37651.0
                }
            ]
        },
        {
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                        {
                            "database": "PDC",
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                    ],
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                    "gene_name": "CFHR1",
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                    "tax_name": "Homo sapiens",
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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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                        {
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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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            ]
        },
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                        {
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            ]
        },
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                        {
                            "id": "rs1343749062",
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                            "id": "37074911",
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                        {
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                        {
                            "id": "rs1800687134",
                            "database": "ENSEMBL",
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                            "id": "37074911",
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            ]
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            "site_seq": "AALAAFNAQNnGSNFQLEEISR",
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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": "rs373886640",
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                    ]
                },
                {
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                        {
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                    ]
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                {
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                        {
                            "id": "rs770113523",
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                    ]
                },
                {
                    "weight": 100,
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                        {
                            "id": "rs556158119",
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                        {
                            "id": "rs556158119",
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                        {
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                        {
                            "id": "rs556158119",
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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 (NGS->YGS).",
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                            "id": "rs1167553984",
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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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                        {
                            "disease_id": "DOID:0110025",
                            "name": "age related macular degeneration 13",
                            "description": "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.",
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                                {
                                    "id": "615439",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/615439"
                                },
                                {
                                    "id": "0110025",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110025"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110025",
                            "name": "age related macular degeneration 13",
                            "description": "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.",
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                            "evidence": [
                                {
                                    "id": "615439",
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                                },
                                {
                                    "id": "0110025",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110025"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110025",
                            "name": "age related macular degeneration 13",
                            "description": "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.",
                            "url": "http://disease-ontology.org/term/DOID:0110025",
                            "evidence": [
                                {
                                    "id": "615439",
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                                },
                                {
                                    "id": "0110025",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110025"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110025",
                            "name": "age related macular degeneration 13",
                            "description": "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.",
                            "url": "http://disease-ontology.org/term/DOID:0110025",
                            "evidence": [
                                {
                                    "id": "615439",
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                                },
                                {
                                    "id": "0110025",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110025"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050419",
                            "name": "complement factor I deficiency",
                            "description": "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.",
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                            "evidence": [
                                {
                                    "id": "610984",
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                                    "url": "https://www.omim.org/entry/610984"
                                },
                                {
                                    "id": "0050419",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050419"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050419",
                            "name": "complement factor I deficiency",
                            "description": "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.",
                            "url": "http://disease-ontology.org/term/DOID:0050419",
                            "evidence": [
                                {
                                    "id": "610984",
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                                    "url": "https://www.omim.org/entry/610984"
                                },
                                {
                                    "id": "0050419",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050419"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050419",
                            "name": "complement factor I deficiency",
                            "description": "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.",
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                                {
                                    "id": "610984",
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                                },
                                {
                                    "id": "0050419",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050419"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0050419",
                            "name": "complement factor I deficiency",
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                                {
                                    "id": "610984",
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                                },
                                {
                                    "id": "0050419",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050419"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110025",
                            "name": "age related macular degeneration 13",
                            "description": "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.",
                            "url": "http://disease-ontology.org/term/DOID:0110025",
                            "evidence": [
                                {
                                    "id": "615439",
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                                },
                                {
                                    "id": "0110025",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0110025"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0110025",
                            "name": "age related macular degeneration 13",
                            "description": "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.",
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                            "evidence": [
                                {
                                    "id": "615439",
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                                },
                                {
                                    "id": "0110025",
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                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110025",
                            "name": "age related macular degeneration 13",
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                                {
                                    "id": "615439",
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                                },
                                {
                                    "id": "0110025",
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                            ]
                        },
                        {
                            "disease_id": "DOID:0110025",
                            "name": "age related macular degeneration 13",
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                                {
                                    "id": "615439",
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                                },
                                {
                                    "id": "0110025",
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                            ]
                        },
                        {
                            "disease_id": "DOID:0050419",
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                                    "id": "610984",
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                                },
                                {
                                    "id": "0050419",
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                            ]
                        },
                        {
                            "disease_id": "DOID:0050419",
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                                    "id": "610984",
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                                },
                                {
                                    "id": "0050419",
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                            ]
                        },
                        {
                            "disease_id": "DOID:0050419",
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                                    "id": "610984",
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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": "rs759927335",
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                        {
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                        {
                            "id": "rs759927335",
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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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                            "evidence": [
                                {
                                    "id": "9256",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:9256"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "I",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NST->IST).",
                    "chr_id": "4",
                    "chr_pos": "109761645",
                    "evidence": [
                        {
                            "id": "P05156",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P05156"
                        },
                        {
                            "id": "rs753060374",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753060374"
                        },
                        {
                            "id": "rs753060374",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753060374"
                        },
                        {
                            "id": "rs753060374",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs753060374#frequency_tab"
                        },
                        {
                            "id": "rs753060374",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs753060374"
                        }
                    ],
                    "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:0110025",
                            "name": "age related macular degeneration 13",
                            "description": "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.",
                            "url": "http://disease-ontology.org/term/DOID:0110025",
                            "evidence": [
                                {
                                    "id": "615439",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/615439"
                                },
                                {
                                    "id": "0110025",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110025"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110025",
                            "name": "age related macular degeneration 13",
                            "description": "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.",
                            "url": "http://disease-ontology.org/term/DOID:0110025",
                            "evidence": [
                                {
                                    "id": "615439",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/615439"
                                },
                                {
                                    "id": "0110025",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110025"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110025",
                            "name": "age related macular degeneration 13",
                            "description": "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.",
                            "url": "http://disease-ontology.org/term/DOID:0110025",
                            "evidence": [
                                {
                                    "id": "615439",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/615439"
                                },
                                {
                                    "id": "0110025",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110025"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110025",
                            "name": "age related macular degeneration 13",
                            "description": "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.",
                            "url": "http://disease-ontology.org/term/DOID:0110025",
                            "evidence": [
                                {
                                    "id": "615439",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/615439"
                                },
                                {
                                    "id": "0110025",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110025"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050419",
                            "name": "complement factor I deficiency",
                            "description": "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.",
                            "url": "http://disease-ontology.org/term/DOID:0050419",
                            "evidence": [
                                {
                                    "id": "610984",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/610984"
                                },
                                {
                                    "id": "0050419",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050419"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050419",
                            "name": "complement factor I deficiency",
                            "description": "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.",
                            "url": "http://disease-ontology.org/term/DOID:0050419",
                            "evidence": [
                                {
                                    "id": "610984",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/610984"
                                },
                                {
                                    "id": "0050419",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050419"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050419",
                            "name": "complement factor I deficiency",
                            "description": "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.",
                            "url": "http://disease-ontology.org/term/DOID:0050419",
                            "evidence": [
                                {
                                    "id": "610984",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/610984"
                                },
                                {
                                    "id": "0050419",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050419"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050419",
                            "name": "complement factor I deficiency",
                            "description": "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.",
                            "url": "http://disease-ontology.org/term/DOID:0050419",
                            "evidence": [
                                {
                                    "id": "610984",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/610984"
                                },
                                {
                                    "id": "0050419",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050419"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110025",
                            "name": "age related macular degeneration 13",
                            "description": "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.",
                            "url": "http://disease-ontology.org/term/DOID:0110025",
                            "evidence": [
                                {
                                    "id": "615439",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/615439"
                                },
                                {
                                    "id": "0110025",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110025"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110025",
                            "name": "age related macular degeneration 13",
                            "description": "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.",
                            "url": "http://disease-ontology.org/term/DOID:0110025",
                            "evidence": [
                                {
                                    "id": "615439",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/615439"
                                },
                                {
                                    "id": "0110025",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110025"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110025",
                            "name": "age related macular degeneration 13",
                            "description": "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.",
                            "url": "http://disease-ontology.org/term/DOID:0110025",
                            "evidence": [
                                {
                                    "id": "615439",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/615439"
                                },
                                {
                                    "id": "0110025",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110025"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110025",
                            "name": "age related macular degeneration 13",
                            "description": "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25.",
                            "url": "http://disease-ontology.org/term/DOID:0110025",
                            "evidence": [
                                {
                                    "id": "615439",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/615439"
                                },
                                {
                                    "id": "0110025",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110025"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050419",
                            "name": "complement factor I deficiency",
                            "description": "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.",
                            "url": "http://disease-ontology.org/term/DOID:0050419",
                            "evidence": [
                                {
                                    "id": "610984",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/610984"
                                },
                                {
                                    "id": "0050419",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050419"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050419",
                            "name": "complement factor I deficiency",
                            "description": "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.",
                            "url": "http://disease-ontology.org/term/DOID:0050419",
                            "evidence": [
                                {
                                    "id": "610984",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/610984"
                                },
                                {
                                    "id": "0050419",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050419"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050419",
                            "name": "complement factor I deficiency",
                            "description": "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.",
                            "url": "http://disease-ontology.org/term/DOID:0050419",
                            "evidence": [
                                {
                                    "id": "610984",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/610984"
                                },
                                {
                                    "id": "0050419",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050419"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050419",
                            "name": "complement factor I deficiency",
                            "description": "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency.",
                            "url": "http://disease-ontology.org/term/DOID:0050419",
                            "evidence": [
                                {
                                    "id": "610984",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/610984"
                                },
                                {
                                    "id": "0050419",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050419"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P05156-1",
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                    "end_pos": 177,
                    "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": "Complement factor I",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 65750.0
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            ]
        },
        {
            "start_pos": "464",
            "site_seq": "",
            "site_lbl": "N464",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->KDT).",
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                    "chr_pos": "109746259",
                    "evidence": [
                        {
                            "id": "rs759927335",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759927335"
                        },
                        {
                            "id": "rs759927335",
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                        {
                            "id": "rs759927335",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs759927335",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs759927335"
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                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P05156-1",
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
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                        },
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                    ],
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            ]
        },
        {
            "start_pos": "200",
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                            "database": "PubMed",
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                        {
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                    ],
                    "protein_name": "Transmembrane glycoprotein NMB",
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                    "chemical_mass": 63923.0
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            ]
        },
        {
            "start_pos": "200",
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                    ],
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            ]
        },
        {
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                            "database": "PubMed",
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                        },
                        {
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                    ],
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            ]
        },
        {
            "start_pos": "200",
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                {
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                            "database": "PubMed",
                            "id": "37074911",
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                        {
                            "database": "PDC",
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                    ],
                    "protein_name": "Transmembrane glycoprotein NMB",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 63923.0
                }
            ]
        },
        {
            "start_pos": "275",
            "site_seq": "DLPIMFDVLIHDPSHFLnYSTINYK",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q14956-1",
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                    "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": "Transmembrane glycoprotein NMB",
                    "gene_name": "GPNMB",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 63923.0
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            ]
        },
        {
            "start_pos": "275",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q14956-1",
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                    "evidence": [
                        {
                            "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": "Transmembrane glycoprotein NMB",
                    "gene_name": "GPNMB",
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                    "chemical_mass": 63923.0
                }
            ]
        },
        {
            "start_pos": "200",
            "site_seq": "VSVNTAnVTLGPQLMEVTVYR",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q14956-1",
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                    "residue": "Asn",
                    "evidence": [
                        {
                            "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": "Transmembrane glycoprotein NMB",
                    "gene_name": "GPNMB",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 63923.0
                }
            ]
        },
        {
            "start_pos": "200",
            "site_seq": "VSVNTAnVTLGPQLMEVTVYRR",
            "site_lbl": "Asn200",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q14956-1",
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                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
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                    ],
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                    "chemical_mass": 43747.0
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            ]
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                        {
                            "database": "PubMed",
                            "id": "9759896",
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                            "id": "8764003",
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        {
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                {
                    "weight": 100,
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            ]
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