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                                {
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                                {
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                            "disease_id": "DOID:0090144",
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                            "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"
                                }
                            ]
                        },
                        {
                            "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",
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                                    "url": "https://www.omim.org/entry/222448"
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                                {
                                    "id": "0090144",
                                    "database": "AGR",
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                                }
                            ]
                        },
                        {
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                                },
                                {
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                                }
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                        }
                    ]
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                    "chr_id": "11",
                    "chr_pos": "49200440",
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                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q04609"
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                    ],
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                        {
                            "disease_id": "DOID:2531",
                            "name": "hematologic cancer",
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                            "evidence": [
                                {
                                    "id": "2531",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:2531"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->KFT).",
                    "chr_id": "11",
                    "chr_pos": "49200438",
                    "evidence": [
                        {
                            "id": "rs1863148287",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1863148287"
                        },
                        {
                            "id": "rs1863148287",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs1863148287"
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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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                            "id": "PDC000471",
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                    ],
                    "protein_name": "Glutamate carboxypeptidase 2",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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            ]
        },
        {
            "start_pos": "76",
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            "site_lbl": "",
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                {
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                    "sequence_mut": "A",
                    "comment": "Loss of glycosylation. Reduces enzyme activity.",
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                        {
                            "database": "PubMed",
                            "id": "15152093",
                            "url": "https://glygen.org/publication/PubMed/15152093"
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                    ]
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            ]
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                            "evidence": [
                                {
                                    "id": "13382",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:13382"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:13382",
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                            "evidence": [
                                {
                                    "id": "13382",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:13382"
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                            ]
                        }
                    ]
                },
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                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->TAS).",
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                        {
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                        {
                            "id": "rs569527072",
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                        },
                        {
                            "id": "rs569527072",
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                        {
                            "id": "rs569527072",
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                        },
                        {
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                            "id": "PDC000471",
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                    ],
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            ]
        },
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                            "id": "rs368486606",
                            "database": "dbSNP",
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                        {
                            "id": "rs368486606",
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                    ]
                },
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                            "id": "rs1236634546",
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                            "id": "rs1236634546",
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                        {
                            "id": "rs1236634546",
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                    ]
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                {
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                        {
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                        {
                            "id": "rs781685259",
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                        {
                            "id": "rs781685259",
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                    ],
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                                    "id": "2531",
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                        }
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                },
                {
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                        {
                            "id": "rs142424994",
                            "database": "dbSNP",
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                        {
                            "id": "rs142424994",
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                        },
                        {
                            "id": "rs142424994",
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            ]
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                        {
                            "id": "rs149758972",
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                        {
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                            "evidence": [
                                {
                                    "id": "13382",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:13382"
                                }
                            ]
                        },
                        {
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                                {
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                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:13382"
                                }
                            ]
                        },
                        {
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                                {
                                    "id": "13382",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:13382"
                                }
                            ]
                        },
                        {
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                                {
                                    "id": "13382",
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                                }
                            ]
                        },
                        {
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                                {
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                            ]
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                },
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                        {
                            "id": "rs569527072",
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                        },
                        {
                            "id": "rs569527072",
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                        {
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                        {
                            "id": "rs569527072",
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                        {
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                    ]
                },
                {
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                            "id": "rs1236634546",
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                        {
                            "id": "rs1236634546",
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                        {
                            "id": "rs1236634546",
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                        {
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                                {
                                    "id": "2531",
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                },
                {
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                        {
                            "id": "rs142424994",
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                        {
                            "id": "rs142424994",
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                            "id": "rs149758972",
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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": 55800.0
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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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                        {
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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": "rs79966207",
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                    ],
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                                {
                                    "id": "2531",
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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:0112297"
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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": "rs1162622428",
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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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                    "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",
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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": "2331",
            "site_seq": "GNPGEPGLnGTTGPK",
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                {
                    "uniprot_canonical_ac": "P12111-1",
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                    "end_pos": 2331,
                    "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
                }
            ]
        },
        {
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                {
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                    "end_pos": 2331,
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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": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3177,
                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "2558",
            "site_seq": "QLINALQInNTAVGHALVLPAGR",
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            "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",
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                {
                    "uniprot_canonical_ac": "P12111-1",
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                    "end_pos": 2558,
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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": "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": [
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                            "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",
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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"
                                }
                            ]
                        }
                    ]
                }
            ],
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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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                    "tax_common_name": "Human",
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            ]
        },
        {
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                {
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                    "sequence_org": "N",
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                        {
                            "id": "P12111",
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                            "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"
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                    ],
                    "disease": [
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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.",
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                            "evidence": [
                                {
                                    "id": "2531",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:2531"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050663",
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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"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050663",
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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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                {
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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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                    "tax_common_name": "Human",
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                    "chemical_mass": 343669.0
                }
            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P12111-1",
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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"
                        }
                    ],
                    "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",
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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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                    "chemical_mass": 343669.0
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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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            ]
        },
        {
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                        {
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                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
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                    "tax_name": "Homo sapiens",
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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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                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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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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                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
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                        }
                    ],
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                    "gene_name": "COL6A3",
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                }
            ]
        },
        {
            "start_pos": "2079",
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            "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).",
                    "chr_id": "2",
                    "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",
                            "name": "Bethlem myopathy",
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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",
                            "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": 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": "513",
            "site_seq": "FALLMTNCYATPSSnATDPLK",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P07911-1",
                    "start_pos": 513,
                    "end_pos": 513,
                    "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": "Uromodulin",
                    "gene_name": "UMOD",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 640,
                    "chemical_mass": 69761.0
                }
            ]
        },
        {
            "start_pos": "513",
            "site_seq": "N",
            "site_lbl": "Asn513",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P07911-1",
                    "start_pos": 513,
                    "end_pos": 513,
                    "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": "Uromodulin",
                    "gene_name": "UMOD",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 69761.0
                }
            ]
        },
        {
            "start_pos": "513",
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                {
                    "uniprot_canonical_ac": "P07911-1",
                    "start_pos": 513,
                    "end_pos": 513,
                    "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": "Uromodulin",
                    "gene_name": "UMOD",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 640,
                    "chemical_mass": 69761.0
                }
            ]
        },
        {
            "start_pos": "513",
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            "site_lbl": "Asn513",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P07911-1",
                    "start_pos": 513,
                    "end_pos": 513,
                    "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": "Uromodulin",
                    "gene_name": "UMOD",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 640,
                    "chemical_mass": 69761.0
                }
            ]
        },
        {
            "start_pos": "513",
            "site_seq": "FALLMTNCYATPSSnATDPLK",
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                {
                    "uniprot_canonical_ac": "P07911-1",
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                    "end_pos": 513,
                    "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": "Uromodulin",
                    "gene_name": "UMOD",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 640,
                    "chemical_mass": 69761.0
                }
            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P07911-1",
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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": "Uromodulin",
                    "gene_name": "UMOD",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 69761.0
                }
            ]
        },
        {
            "start_pos": "513",
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            "site_lbl": "N513",
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            "snv": [
                {
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                    "sequence_org": "N",
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                    "chr_pos": "20341131",
                    "evidence": [
                        {
                            "id": "P07911",
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                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07911"
                        }
                    ],
                    "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"
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                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
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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": "Uromodulin",
                    "gene_name": "UMOD",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 640,
                    "chemical_mass": 69761.0
                }
            ]
        },
        {
            "start_pos": "513",
            "site_seq": "FALLMTNCYATPSSnATDPLK",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P07911-1",
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                    "end_pos": 513,
                    "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": "Uromodulin",
                    "gene_name": "UMOD",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 640,
                    "chemical_mass": 69761.0
                }
            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P07911-1",
                    "start_pos": 513,
                    "end_pos": 513,
                    "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": "Uromodulin",
                    "gene_name": "UMOD",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 640,
                    "chemical_mass": 69761.0
                }
            ]
        },
        {
            "start_pos": "513",
            "site_seq": "",
            "site_lbl": "N513",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "H",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAT->HAT).",
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                    "chr_pos": "20341131",
                    "evidence": [
                        {
                            "id": "P07911",
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                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07911"
                        }
                    ],
                    "disease": [
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                                {
                                    "id": "363",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:363"
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                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
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                        {
                            "database": "PubMed",
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                        },
                        {
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                        }
                    ],
                    "protein_name": "Uromodulin",
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                    "chemical_mass": 69761.0
                }
            ]
        },
        {
            "start_pos": "551",
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                {
                    "uniprot_canonical_ac": "Q08380-1",
                    "start_pos": 551,
                    "end_pos": 551,
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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": "Galectin-3-binding protein",
                    "gene_name": "LGALS3BP",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 65331.0
                }
            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "Q08380-1",
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                        {
                            "database": "PubMed",
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                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Galectin-3-binding protein",
                    "gene_name": "LGALS3BP",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 585,
                    "chemical_mass": 65331.0
                }
            ]
        },
        {
            "start_pos": "551",
            "site_seq": "AAIPSALDTNSSK",
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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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                    ],
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                                    "id": "1612",
                                    "database": "AGR",
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                        {
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                        {
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                        {
                            "id": "rs2136837675",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 309265.0
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            ]
        },
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            ]
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        {
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                        {
                            "id": "rs765163545",
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                        {
                            "id": "rs765163545",
                            "database": "TOPMed",
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                        {
                            "id": "rs765163545",
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                    ],
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                            "evidence": [
                                {
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0060573"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0060573",
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                            ]
                        },
                        {
                            "disease_id": "DOID:0060573",
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                            ]
                        },
                        {
                            "disease_id": "DOID:0060573",
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                            ]
                        },
                        {
                            "disease_id": "DOID:0060574",
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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": "0050437",
                                    "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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                    ],
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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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                        {
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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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                                {
                                    "id": "0080380",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0080380"
                                },
                                {
                                    "id": "0080380",
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                            ]
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                        {
                            "disease_id": "DOID:0080380",
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                                {
                                    "id": "0080380",
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                                },
                                {
                                    "id": "0080380",
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                            ]
                        },
                        {
                            "disease_id": "DOID:0080380",
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                                {
                                    "id": "0080380",
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                                },
                                {
                                    "id": "0080380",
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                            ]
                        },
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                                {
                                    "id": "0060852",
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                            ]
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                        {
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                                    "id": "0060852",
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                    ],
                    "protein_name": "Apolipoprotein D",
                    "gene_name": "APOD",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 189,
                    "chemical_mass": 21276.0
                }
            ]
        },
        {
            "start_pos": "98",
            "site_seq": "",
            "site_lbl": "N98",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "T",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->TLT).",
                    "chr_id": "3",
                    "chr_pos": "195571318",
                    "evidence": [
                        {
                            "id": "rs1577602196",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1577602196"
                        },
                        {
                            "id": "rs1577602196",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs1577602196"
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P05090-1",
                    "start_pos": 98,
                    "end_pos": 98,
                    "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": "Apolipoprotein D",
                    "gene_name": "APOD",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 189,
                    "chemical_mass": 21276.0
                }
            ]
        }
    ],
    "record_id": "G02886BB"
}
