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                                {
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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": "rs1568041333",
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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": "rs766001239",
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                        {
                            "id": "rs576734629",
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                        {
                            "id": "rs576734629",
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            "site_seq": "TCDWLPKPNMSASCK",
            "site_lbl": "Asn101",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P07602-1",
                    "start_pos": 101,
                    "end_pos": 101,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Prosaposin",
                    "gene_name": "PSAP",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 524,
                    "chemical_mass": 58113.0
                }
            ]
        },
        {
            "start_pos": "215",
            "site_seq": "N",
            "site_lbl": "Asn215",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P07602-1",
                    "start_pos": 215,
                    "end_pos": 215,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Prosaposin",
                    "gene_name": "PSAP",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 524,
                    "chemical_mass": 58113.0
                }
            ]
        },
        {
            "start_pos": "215",
            "site_seq": "TnSTFVQALVEHVK",
            "site_lbl": "Asn215",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P07602-1",
                    "start_pos": 215,
                    "end_pos": 215,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Prosaposin",
                    "gene_name": "PSAP",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 524,
                    "chemical_mass": 58113.0
                }
            ]
        },
        {
            "start_pos": "80",
            "site_seq": "N",
            "site_lbl": "Asn80",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P07602-1",
                    "start_pos": 80,
                    "end_pos": 80,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Prosaposin",
                    "gene_name": "PSAP",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 524,
                    "chemical_mass": 58113.0
                }
            ]
        },
        {
            "start_pos": "80",
            "site_seq": "DnATEEEILVYLEK",
            "site_lbl": "Asn80",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P07602-1",
                    "start_pos": 80,
                    "end_pos": 80,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Prosaposin",
                    "gene_name": "PSAP",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 524,
                    "chemical_mass": 58113.0
                }
            ]
        },
        {
            "start_pos": "80",
            "site_seq": "DVVTAAGDMLKDNATEEEILVYLEK",
            "site_lbl": "Asn80",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P07602-1",
                    "start_pos": 80,
                    "end_pos": 80,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Prosaposin",
                    "gene_name": "PSAP",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 524,
                    "chemical_mass": 58113.0
                }
            ]
        },
        {
            "start_pos": "101",
            "site_seq": "",
            "site_lbl": "N101",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NMS->SMS).",
                    "chr_id": "10",
                    "chr_pos": "71831199",
                    "evidence": [
                        {
                            "id": "P07602",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07602"
                        }
                    ],
                    "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"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "T",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NMS->TMS).",
                    "chr_id": "10",
                    "chr_pos": "71831199",
                    "evidence": [
                        {
                            "id": "P07602",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P07602"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung.",
                            "url": "http://disease-ontology.org/term/DOID:1324",
                            "evidence": [
                                {
                                    "id": "1324",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P07602-1",
                    "start_pos": 101,
                    "end_pos": 101,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Prosaposin",
                    "gene_name": "PSAP",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 524,
                    "chemical_mass": 58113.0
                }
            ]
        },
        {
            "start_pos": "215",
            "site_seq": "",
            "site_lbl": "N215",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "H",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->HST).",
                    "chr_id": "10",
                    "chr_pos": "71828091",
                    "evidence": [
                        {
                            "id": "rs121918107",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918107"
                        },
                        {
                            "id": "rs121918107",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs121918107"
                        },
                        {
                            "id": "10682309",
                            "database": "PubMed",
                            "url": "https://glygen.org/publication/PubMed/10682309"
                        },
                        {
                            "id": "17561962",
                            "database": "PubMed",
                            "url": "https://glygen.org/publication/PubMed/17561962"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->KST).",
                    "chr_id": "10",
                    "chr_pos": "71828089",
                    "evidence": [
                        {
                            "id": "rs770171865",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770171865"
                        },
                        {
                            "id": "rs770171865",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770171865"
                        },
                        {
                            "id": "rs770171865",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs770171865"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:0111330",
                            "name": "combined saposin deficiency",
                            "description": "A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1.",
                            "url": "http://disease-ontology.org/term/DOID:0111330",
                            "evidence": [
                                {
                                    "id": "0111330",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111330"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111330",
                            "name": "combined saposin deficiency",
                            "description": "A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1.",
                            "url": "http://disease-ontology.org/term/DOID:0111330",
                            "evidence": [
                                {
                                    "id": "0111330",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111330"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111330",
                            "name": "combined saposin deficiency",
                            "description": "A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1.",
                            "url": "http://disease-ontology.org/term/DOID:0111330",
                            "evidence": [
                                {
                                    "id": "0111330",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111330"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110961",
                            "name": "atypical Gaucher's disease due to saposin c deficiency",
                            "description": "A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.",
                            "url": "http://disease-ontology.org/term/DOID:0110961",
                            "evidence": [
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
                                },
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110961",
                            "name": "atypical Gaucher's disease due to saposin c deficiency",
                            "description": "A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.",
                            "url": "http://disease-ontology.org/term/DOID:0110961",
                            "evidence": [
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
                                },
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110961",
                            "name": "atypical Gaucher's disease due to saposin c deficiency",
                            "description": "A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.",
                            "url": "http://disease-ontology.org/term/DOID:0110961",
                            "evidence": [
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
                                },
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
                            "url": "http://disease-ontology.org/term/DOID:10581",
                            "evidence": [
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                                {
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                        {
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                                {
                                    "id": "10581",
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                        },
                        {
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                                {
                                    "id": "10581",
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                                {
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                                {
                                    "id": "10581",
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                                {
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                                {
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                        {
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                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
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                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
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                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
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                        },
                        {
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                                {
                                    "id": "10581",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
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                            ]
                        },
                        {
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                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
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                                {
                                    "id": "10581",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
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                            ]
                        },
                        {
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                                {
                                    "id": "10581",
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                        {
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                        {
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                    ],
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                            "url": "http://disease-ontology.org/term/DOID:0111330",
                            "evidence": [
                                {
                                    "id": "0111330",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111330"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0111330",
                            "name": "combined saposin deficiency",
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                            "url": "http://disease-ontology.org/term/DOID:0111330",
                            "evidence": [
                                {
                                    "id": "0111330",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111330"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0111330",
                            "name": "combined saposin deficiency",
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                            "evidence": [
                                {
                                    "id": "0111330",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111330"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0110961",
                            "name": "atypical Gaucher's disease due to saposin c deficiency",
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                                {
                                    "id": "0110961",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
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                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0110961",
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                            "evidence": [
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
                                },
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0110961",
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                            "evidence": [
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
                                },
                                {
                                    "id": "0110961",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110961"
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                            ]
                        },
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                            "evidence": [
                                {
                                    "id": "10581",
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                        {
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                                {
                                    "id": "10581",
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                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
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                                {
                                    "id": "10581",
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                        {
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                                {
                                    "id": "10581",
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                        {
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                                    "id": "10581",
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                            ]
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                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
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                            ]
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                        {
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                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
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                            ]
                        },
                        {
                            "disease_id": "DOID:10581",
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                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.",
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                            "evidence": [
                                {
                                    "id": "10581",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10581"
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                            ]
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                }
            ],
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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"
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                    ],
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 58113.0
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            ]
        },
        {
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                        {
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                    ]
                },
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                        {
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                            "database": "ExAC",
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                        {
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                        {
                            "id": "rs570654892",
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                        {
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                        {
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                        {
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                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
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                            "id": "PDC000471",
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                    ],
                    "protein_name": "Hypoxia up-regulated protein 1",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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            ]
        },
        {
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                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Hypoxia up-regulated protein 1",
                    "gene_name": "HYOU1",
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            ]
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        {
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                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
                            "database": "PDC",
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            ]
        },
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                {
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                        {
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                            "id": "PDC000471",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 111335.0
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            ]
        },
        {
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                        {
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                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Hypoxia up-regulated protein 1",
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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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                        {
                            "id": "rs2133605388",
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                    ]
                },
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                            "id": "Q9Y4L1",
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                    ],
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                                {
                                    "id": "1324",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
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                            ]
                        }
                    ]
                }
            ],
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                {
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                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
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            ]
        },
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                                    "id": "363",
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                    ]
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            ]
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            ]
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2133605388"
                        },
                        {
                            "id": "rs2133605388",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs2133605388"
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                    ]
                },
                {
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                        {
                            "id": "Q9Y4L1",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4L1"
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                    ],
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                        {
                            "disease_id": "DOID:1324",
                            "name": "lung cancer",
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                            "evidence": [
                                {
                                    "id": "1324",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
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                        }
                    ]
                }
            ],
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                {
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                        },
                        {
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                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
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                    "gene_name": "HYOU1",
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            ]
        },
        {
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                            "id": "Q9Y4L1",
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                    ],
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                                {
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                    ]
                },
                {
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                            "database": "dbSNP",
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                        {
                            "id": "rs2133574126",
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            ]
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                        {
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                    "gene_name": "MPO",
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            ]
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                        {
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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": 504606.0
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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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                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
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                        {
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            ]
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                        {
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                                {
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            ]
        },
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                    "tax_name": "Homo sapiens",
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            ]
        },
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                        {
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            ]
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                        {
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                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
                            "database": "PDC",
                            "id": "PDC000471",
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                    ],
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            ]
        },
        {
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                {
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                        {
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                        {
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                            "id": "PDC000471",
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                    ],
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            ]
        },
        {
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                        {
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                    ],
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                    "chemical_mass": 398736.0
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            ]
        },
        {
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                {
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                        {
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                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
                            "database": "PDC",
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                    ],
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            ]
        },
        {
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                    "uniprot_canonical_ac": "O60494-1",
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                        {
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                        {
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            ]
        },
        {
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                {
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                        {
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            ]
        },
        {
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                        {
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                        {
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            ]
        },
        {
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                        {
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            ]
        },
        {
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                            "id": "rs1842615728",
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                        {
                            "id": "rs1842615728",
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                    ]
                },
                {
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                        {
                            "id": "rs765059540",
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                        {
                            "id": "rs765059540",
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                    ]
                }
            ],
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        },
        {
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                        {
                            "id": "rs1842246414",
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                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                        {
                            "id": "rs569527072",
                            "database": "dbSNP",
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                        {
                            "id": "rs569527072",
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                        },
                        {
                            "id": "rs569527072",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569527072"
                        },
                        {
                            "id": "rs569527072",
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                        },
                        {
                            "id": "rs569527072",
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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 (NAS->SAS).",
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                    "evidence": [
                        {
                            "id": "rs569527072",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs569527072",
                            "database": "1000Genomes",
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                        },
                        {
                            "id": "rs569527072",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs569527072"
                        },
                        {
                            "id": "rs569527072",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs569527072",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs569527072"
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                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:13382",
                            "name": "megaloblastic anemia",
                            "description": "A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production.",
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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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                    ],
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                    ],
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                        },
                        {
                            "disease_id": "DOID:0090144",
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                                    "id": "222448",
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                                {
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                                {
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                                {
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                                },
                                {
                                    "id": "0090144",
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                        {
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                                {
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            ]
        },
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                        {
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            ]
        },
        {
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                {
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                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    "protein_name": "Low-density lipoprotein receptor-related protein 2",
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            ]
        },
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                        {
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                            "id": "PDC000471",
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                    ],
                    "protein_name": "Low-density lipoprotein receptor-related protein 2",
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            ]
        },
        {
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                {
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                        {
                            "database": "PDC",
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                    ],
                    "protein_name": "Low-density lipoprotein receptor-related protein 2",
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            ]
        },
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                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
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                    ],
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            ]
        },
        {
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                {
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                        },
                        {
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                            "id": "PDC000471",
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                        }
                    ],
                    "protein_name": "Low-density lipoprotein receptor-related protein 2",
                    "gene_name": "LRP2",
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                }
            ]
        },
        {
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                {
                    "uniprot_canonical_ac": "P98164-1",
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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": "Low-density lipoprotein receptor-related protein 2",
                    "gene_name": "LRP2",
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            ]
        },
        {
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                            "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": "Low-density lipoprotein receptor-related protein 2",
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            ]
        },
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                    "evidence": [
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                        {
                            "id": "rs1689734706",
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                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "chr_pos": "169239673",
                    "evidence": [
                        {
                            "id": "rs747142179",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747142179"
                        },
                        {
                            "id": "rs747142179",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747142179"
                        },
                        {
                            "id": "rs747142179",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs747142179"
                        }
                    ]
                },
                {
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                    "sequence_org": "N",
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                    "chr_pos": "169239673",
                    "evidence": [
                        {
                            "id": "rs747142179",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs747142179",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747142179"
                        },
                        {
                            "id": "rs747142179",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs747142179"
                        }
                    ]
                }
            ],
            "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"
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                    ],
                    "protein_name": "Low-density lipoprotein receptor-related protein 2",
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            ]
        },
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                {
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                        {
                            "id": "P98164",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P98164"
                        },
                        {
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                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs957137487"
                        },
                        {
                            "id": "rs957137487",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs957137487#frequency_tab"
                        },
                        {
                            "id": "rs957137487",
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                    ],
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                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.",
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                                {
                                    "id": "9256",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:9256"
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                            ]
                        },
                        {
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                            "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",
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                            "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",
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                            "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"
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                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
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                        },
                        {
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                    ],
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            ]
        },
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                {
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                    "sequence_org": "N",
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                    "chr_pos": "169206084",
                    "evidence": [
                        {
                            "id": "rs1688374769",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1688374769"
                        },
                        {
                            "id": "rs1688374769",
                            "database": "ENSEMBL",
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                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->KRT).",
                    "chr_id": "2",
                    "chr_pos": "169206082",
                    "evidence": [
                        {
                            "id": "rs764422443",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764422443"
                        },
                        {
                            "id": "rs764422443",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764422443"
                        },
                        {
                            "id": "rs764422443",
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                        {
                            "id": "rs764422443",
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                    ]
                },
                {
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                    "sequence_org": "N",
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                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NRT->TRT).",
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                    "chr_pos": "169206083",
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                        {
                            "id": "P98164",
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                    ],
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                            "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.",
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                            "evidence": [
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
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                            ]
                        }
                    ]
                }
            ],
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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_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 521958.0
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            ]
        },
        {
            "start_pos": "2781",
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            "site_lbl": "N2781",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "H",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->HAT).",
                    "chr_id": "2",
                    "chr_pos": "169201739",
                    "evidence": [
                        {
                            "id": "rs747432317",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747432317"
                        },
                        {
                            "id": "rs747432317",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747432317"
                        },
                        {
                            "id": "rs747432317",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs747432317"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).",
                    "chr_id": "2",
                    "chr_pos": "169201738",
                    "evidence": [
                        {
                            "id": "rs1054438192",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1054438192"
                        },
                        {
                            "id": "rs1054438192",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs1054438192#frequency_tab"
                        },
                        {
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                                {
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                                {
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                        {
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            "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": "2558",
            "site_seq": "QLINALQInNTAVGHALVLPAGR",
            "site_lbl": "Asn2558",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 2558,
                    "end_pos": 2558,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3177,
                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "2558",
            "site_seq": "N",
            "site_lbl": "Asn2558",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 2558,
                    "end_pos": 2558,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3177,
                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "3037",
            "site_seq": "N",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
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                    "end_pos": 3037,
                    "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": "3037",
            "site_seq": "QnLTVTDR",
            "site_lbl": "Asn3037",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 3037,
                    "end_pos": 3037,
                    "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": "3037",
            "site_seq": "QNLTVTDR",
            "site_lbl": "Asn3037",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 3037,
                    "end_pos": 3037,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3177,
                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "2079",
            "site_seq": "",
            "site_lbl": "N2079",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGT->SGT).",
                    "chr_id": "2",
                    "chr_pos": "237360134",
                    "evidence": [
                        {
                            "id": "P12111",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P12111"
                        },
                        {
                            "id": "rs2469862004",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2469862004"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:5041",
                            "name": "esophageal cancer",
                            "description": "A gastrointestinal system cancer that is located_in the esophagus.",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "evidence": [
                                {
                                    "id": "5041",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:5041"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10534",
                            "name": "stomach cancer",
                            "description": "A gastrointestinal system cancer that is located_in the stomach.",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "evidence": [
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050663",
                            "name": "Bethlem myopathy",
                            "description": "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.",
                            "url": "http://disease-ontology.org/term/DOID:0050663",
                            "evidence": [
                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "Y",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->YGT).",
                    "chr_id": "2",
                    "chr_pos": "237360135",
                    "evidence": [
                        {
                            "id": "rs2106342283",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2106342283"
                        },
                        {
                            "id": "rs2106342283",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs2106342283"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:0050663",
                            "name": "Bethlem myopathy",
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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": 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": [
                        {
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                            "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",
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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"
                                }
                            ]
                        }
                    ]
                }
            ],
            "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": "3037",
            "site_seq": "",
            "site_lbl": "N3037",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "D",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->DLT).",
                    "chr_id": "2",
                    "chr_pos": "237334746",
                    "evidence": [
                        {
                            "id": "rs758501768",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758501768"
                        },
                        {
                            "id": "rs758501768",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758501768"
                        },
                        {
                            "id": "rs758501768",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs758501768"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->KLT).",
                    "chr_id": "2",
                    "chr_pos": "237334744",
                    "evidence": [
                        {
                            "id": "rs753205101",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753205101"
                        },
                        {
                            "id": "rs753205101",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753205101"
                        },
                        {
                            "id": "rs753205101",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs753205101#frequency_tab"
                        },
                        {
                            "id": "rs753205101",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs753205101"
                        },
                        {
                            "id": "rs753205101",
                            "database": "COSMIC",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753205101"
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 3037,
                    "end_pos": 3037,
                    "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": "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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            "site_seq": "GPPGVnGTQGFQGCPGQR",
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            "glycoprotein": [
                {
                    "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"
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                    ],
                    "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": "GYPGDEGGPGERGPPGVnGTQGFQGCPGQR",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 2079,
                    "end_pos": 2079,
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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": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3177,
                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "2079",
            "site_seq": "N",
            "site_lbl": "Asn2079",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 2079,
                    "end_pos": 2079,
                    "residue": "Asn",
                    "evidence": [
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                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3177,
                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "2558",
            "site_seq": "QLINALQInNTAVGHALVLPAGR",
            "site_lbl": "Asn2558",
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            "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",
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                        }
                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "2558",
            "site_seq": "N",
            "site_lbl": "Asn2558",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 2558,
                    "end_pos": 2558,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3177,
                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "3037",
            "site_seq": "N",
            "site_lbl": "Asn3037",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 3037,
                    "end_pos": 3037,
                    "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": "3037",
            "site_seq": "QnLTVTDR",
            "site_lbl": "Asn3037",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 3037,
                    "end_pos": 3037,
                    "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": "3037",
            "site_seq": "QNLTVTDR",
            "site_lbl": "Asn3037",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 3037,
                    "end_pos": 3037,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3177,
                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "2079",
            "site_seq": "",
            "site_lbl": "N2079",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGT->SGT).",
                    "chr_id": "2",
                    "chr_pos": "237360134",
                    "evidence": [
                        {
                            "id": "P12111",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P12111"
                        },
                        {
                            "id": "rs2469862004",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2469862004"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:5041",
                            "name": "esophageal cancer",
                            "description": "A gastrointestinal system cancer that is located_in the esophagus.",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "evidence": [
                                {
                                    "id": "5041",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:5041"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10534",
                            "name": "stomach cancer",
                            "description": "A gastrointestinal system cancer that is located_in the stomach.",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "evidence": [
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050663",
                            "name": "Bethlem myopathy",
                            "description": "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.",
                            "url": "http://disease-ontology.org/term/DOID:0050663",
                            "evidence": [
                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "Y",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->YGT).",
                    "chr_id": "2",
                    "chr_pos": "237360135",
                    "evidence": [
                        {
                            "id": "rs2106342283",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2106342283"
                        },
                        {
                            "id": "rs2106342283",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs2106342283"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:0050663",
                            "name": "Bethlem myopathy",
                            "description": "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.",
                            "url": "http://disease-ontology.org/term/DOID:0050663",
                            "evidence": [
                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0050663",
                            "name": "Bethlem myopathy",
                            "description": "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.",
                            "url": "http://disease-ontology.org/term/DOID:0050663",
                            "evidence": [
                                {
                                    "id": "158810",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/158810"
                                },
                                {
                                    "id": "0050663",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0050663"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 2079,
                    "end_pos": 2079,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Collagen alpha-3(VI) chain",
                    "gene_name": "COL6A3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 3177,
                    "chemical_mass": 343669.0
                }
            ]
        },
        {
            "start_pos": "2558",
            "site_seq": "",
            "site_lbl": "N2558",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NNT->SNT).",
                    "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": "3037",
            "site_seq": "",
            "site_lbl": "N3037",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "D",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->DLT).",
                    "chr_id": "2",
                    "chr_pos": "237334746",
                    "evidence": [
                        {
                            "id": "rs758501768",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758501768"
                        },
                        {
                            "id": "rs758501768",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758501768"
                        },
                        {
                            "id": "rs758501768",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs758501768"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->KLT).",
                    "chr_id": "2",
                    "chr_pos": "237334744",
                    "evidence": [
                        {
                            "id": "rs753205101",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753205101"
                        },
                        {
                            "id": "rs753205101",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753205101"
                        },
                        {
                            "id": "rs753205101",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs753205101#frequency_tab"
                        },
                        {
                            "id": "rs753205101",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs753205101"
                        },
                        {
                            "id": "rs753205101",
                            "database": "COSMIC",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs753205101"
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12111-1",
                    "start_pos": 3037,
                    "end_pos": 3037,
                    "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": "92",
            "site_seq": "nSSTEIR",
            "site_lbl": "Asn92",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q9UHB6-1",
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                    "end_pos": 92,
                    "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": "LIM domain and actin-binding protein 1",
                    "gene_name": "LIMA1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 759,
                    "chemical_mass": 85226.0
                }
            ]
        },
        {
            "start_pos": "92",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q9UHB6-1",
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                    "end_pos": 92,
                    "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": "LIM domain and actin-binding protein 1",
                    "gene_name": "LIMA1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 759,
                    "chemical_mass": 85226.0
                }
            ]
        },
        {
            "start_pos": "92",
            "site_seq": "nSSTEIR",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q9UHB6-1",
                    "start_pos": 92,
                    "end_pos": 92,
                    "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": "LIM domain and actin-binding protein 1",
                    "gene_name": "LIMA1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 759,
                    "chemical_mass": 85226.0
                }
            ]
        },
        {
            "start_pos": "92",
            "site_seq": "nSSTEIR",
            "site_lbl": "Asn92",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q9UHB6-1",
                    "start_pos": 92,
                    "end_pos": 92,
                    "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": "LIM domain and actin-binding protein 1",
                    "gene_name": "LIMA1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 759,
                    "chemical_mass": 85226.0
                }
            ]
        },
        {
            "start_pos": "693",
            "site_seq": "DYSLTFGAInQTWSYR",
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            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q14112-1",
                    "start_pos": 693,
                    "end_pos": 693,
                    "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": "Nidogen-2",
                    "gene_name": "NID2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1375,
                    "chemical_mass": 151254.0
                }
            ]
        },
        {
            "start_pos": "693",
            "site_seq": "N",
            "site_lbl": "Asn693",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q14112-1",
                    "start_pos": 693,
                    "end_pos": 693,
                    "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": "Nidogen-2",
                    "gene_name": "NID2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1375,
                    "chemical_mass": 151254.0
                }
            ]
        },
        {
            "start_pos": "693",
            "site_seq": "DYSLTFGAINQTWSYR",
            "site_lbl": "Asn693",
            "residue": "Asn",
            "glycoprotein": [
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                        },
                        {
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                        },
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                        {
                            "disease_id": "DOID:363",
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                                {
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                                    "database": "AGR",
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                    "chr_pos": "78974690",
                    "evidence": [
                        {
                            "id": "Q08380",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q08380"
                        },
                        {
                            "id": "rs1461262648",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1461262648"
                        },
                        {
                            "id": "rs1461262648",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1461262648"
                        },
                        {
                            "id": "rs1461262648",
                            "database": "COSMIC",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1461262648"
                        }
                    ],
                    "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"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q08380-1",
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                    "end_pos": 125,
                    "residue": "Asn",
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                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Galectin-3-binding protein",
                    "gene_name": "LGALS3BP",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 585,
                    "chemical_mass": 65331.0
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            ]
        },
        {
            "start_pos": "551",
            "site_seq": "",
            "site_lbl": "N551",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->SSS).",
                    "chr_id": "17",
                    "chr_pos": "78971682",
                    "evidence": [
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                            "id": "rs773114062",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773114062"
                        },
                        {
                            "id": "rs773114062",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773114062"
                        },
                        {
                            "id": "rs773114062",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs773114062"
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q08380-1",
                    "start_pos": 551,
                    "end_pos": 551,
                    "residue": "Asn",
                    "evidence": [
                        {
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                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "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": "69",
            "site_seq": "",
            "site_lbl": "N69",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "I",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->IAT).",
                    "chr_id": "17",
                    "chr_pos": "78976003",
                    "evidence": [
                        {
                            "id": "rs968684090",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs968684090"
                        },
                        {
                            "id": "rs968684090",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs968684090#frequency_tab"
                        },
                        {
                            "id": "rs968684090",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs968684090"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->KAT).",
                    "chr_id": "17",
                    "chr_pos": "78976002",
                    "evidence": [
                        {
                            "id": "rs770079138",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770079138"
                        },
                        {
                            "id": "rs770079138",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770079138"
                        },
                        {
                            "id": "rs770079138",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs770079138#frequency_tab"
                        },
                        {
                            "id": "rs770079138",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs770079138"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).",
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                    "chr_pos": "78976003",
                    "evidence": [
                        {
                            "id": "rs968684090",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs968684090"
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                        {
                            "id": "rs968684090",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs968684090#frequency_tab"
                        },
                        {
                            "id": "rs968684090",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs968684090"
                        }
                    ]
                }
            ],
            "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"
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                    ],
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                    "tax_common_name": "Human",
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                    "chemical_mass": 65331.0
                }
            ]
        },
        {
            "start_pos": "1022",
            "site_seq": "CDQCEENYFYnR",
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            "residue": "Asn",
            "glycoprotein": [
                {
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                    "end_pos": 1022,
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Laminin subunit gamma-1",
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                    "tax_common_name": "Human",
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            ]
        },
        {
            "start_pos": "1022",
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                {
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                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
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                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Laminin subunit gamma-1",
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            ]
        },
        {
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            "glycoprotein": [
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                        {
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                    ],
                    "protein_name": "Laminin subunit gamma-1",
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            ]
        },
        {
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                    ],
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                    ],
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            ]
        },
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                    ],
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            ]
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            ]
        },
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            ]
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                    ],
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            ]
        },
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                    ],
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            ]
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            ]
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            ]
        },
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                    ],
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            ]
        },
        {
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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": "rs965002510",
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                        {
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                        {
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                {
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                        {
                            "id": "rs781759819",
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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",
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                            "evidence": [
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                }
                            ]
                        }
                    ]
                }
            ],
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                {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
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                            "id": "PDC000471",
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                    ],
                    "protein_name": "Dipeptidyl peptidase 4",
                    "gene_name": "DPP4",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 88279.0
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            ]
        },
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                    ],
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                    "gene_name": "DPP4",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                }
            ]
        },
        {
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                {
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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": "Dipeptidyl peptidase 4",
                    "gene_name": "DPP4",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 88279.0
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            ]
        },
        {
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                {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
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                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
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                    ],
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                    "gene_name": "DPP4",
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                    "tax_common_name": "Human",
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                }
            ]
        },
        {
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                    "sequence_mut": "S",
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                    "chr_pos": "162016776",
                    "evidence": [
                        {
                            "id": "rs199543870",
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                        },
                        {
                            "id": "rs199543870",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs199543870"
                        }
                    ]
                },
                {
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                    "sequence_org": "N",
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                    "chr_pos": "162016777",
                    "evidence": [
                        {
                            "id": "P27487",
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                        }
                    ],
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                        {
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                            ]
                        },
                        {
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                                    "id": "10534",
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                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
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                            ]
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            ],
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                        {
                            "database": "PubMed",
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                    ]
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            ]
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                    ],
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        },
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                        {
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            ]
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                    ],
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            ]
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        {
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            ]
        },
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                        {
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                    ],
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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": "rs1365692488",
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            ]
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->KVT).",
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                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2308927"
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                        {
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                            "database": "gnomAD",
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                        {
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                        {
                            "database": "PDC",
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            ]
        },
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                        {
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                    ],
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                    "tax_name": "Homo sapiens",
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            ]
        },
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                        {
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                        {
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            ]
        },
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                            "id": "rs1800687134",
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                        {
                            "id": "rs1800687134",
                            "database": "ENSEMBL",
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                    ]
                }
            ],
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                {
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                        {
                            "database": "PDC",
                            "id": "PDC000471",
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                    ],
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            ]
        },
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            ],
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                        {
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                        {
                            "id": "rs1313161587",
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                        {
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                        {
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                        {
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                        {
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                        {
                            "id": "rs755626585",
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                        {
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            ]
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            ]
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                        {
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                        {
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                        {
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                        {
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                        {
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                                {
                                    "id": "363",
                                    "database": "AGR",
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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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                        {
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                    "chemical_mass": 45674.0
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            ]
        },
        {
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->DLS).",
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                    "chr_pos": "89637534",
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                            "id": "rs372554004",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372554004"
                        },
                        {
                            "id": "rs372554004",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372554004"
                        },
                        {
                            "id": "rs372554004",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs372554004#frequency_tab"
                        },
                        {
                            "id": "rs372554004",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs372554004"
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                    ]
                },
                {
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->HLS).",
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                        {
                            "id": "rs372554004",
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                        {
                            "id": "rs372554004",
                            "database": "ExAC",
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                        },
                        {
                            "id": "rs372554004",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs372554004#frequency_tab"
                        },
                        {
                            "id": "rs372554004",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs372554004"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    ],
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                            "evidence": [
                                {
                                    "id": "4159",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:4159"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung.",
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                            "evidence": [
                                {
                                    "id": "1324",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
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                            ]
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                    ]
                }
            ],
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                    ],
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            ]
        },
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                    "evidence": [
                        {
                            "id": "rs1341032596",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs1341032596",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1341032596"
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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 (NWT->SWT).",
                    "chr_id": "16",
                    "chr_pos": "89637901",
                    "evidence": [
                        {
                            "id": "rs746299372",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746299372"
                        },
                        {
                            "id": "rs746299372",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746299372"
                        },
                        {
                            "id": "rs746299372",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs746299372",
                            "database": "gnomAD",
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                }
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            ]
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                    ]
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            ]
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                        {
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                    "chemical_mass": 45674.0
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            ]
        },
        {
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                    "chr_id": "16",
                    "chr_pos": "89637534",
                    "evidence": [
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                            "id": "rs372554004",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372554004"
                        },
                        {
                            "id": "rs372554004",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372554004"
                        },
                        {
                            "id": "rs372554004",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs372554004#frequency_tab"
                        },
                        {
                            "id": "rs372554004",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs372554004"
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                    ]
                },
                {
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->HLS).",
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                        {
                            "id": "rs372554004",
                            "database": "ExAC",
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                        {
                            "id": "rs372554004",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs372554004",
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                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLS->SLS).",
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                    ],
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                            "evidence": [
                                {
                                    "id": "4159",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:4159"
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                            ]
                        },
                        {
                            "disease_id": "DOID:1324",
                            "name": "lung cancer",
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                            "evidence": [
                                {
                                    "id": "1324",
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            ]
        },
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                        {
                            "id": "rs1341032596",
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                    ]
                },
                {
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                    "sequence_org": "N",
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                            "id": "rs746299372",
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                        {
                            "id": "rs746299372",
                            "database": "ExAC",
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                        {
                            "id": "rs746299372",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs746299372",
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                        {
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                    ],
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            ]
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                    ]
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                                },
                                {
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                                {
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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": "0110160",
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                        {
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                                {
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                                {
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                        {
                            "disease_id": "DOID:0110160",
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                                {
                                    "id": "0110160",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110160",
                            "name": "Charcot-Marie-Tooth disease axonal type 2T",
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                                {
                                    "id": "0110160",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111745",
                            "name": "cerebellar ataxia type 43",
                            "description": "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111745",
                            "evidence": [
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                                },
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111745",
                            "name": "cerebellar ataxia type 43",
                            "description": "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111745",
                            "evidence": [
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                                },
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111745",
                            "name": "cerebellar ataxia type 43",
                            "description": "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111745",
                            "evidence": [
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                                },
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111745",
                            "name": "cerebellar ataxia type 43",
                            "description": "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111745",
                            "evidence": [
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                                },
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111745",
                            "name": "cerebellar ataxia type 43",
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                            "url": "http://disease-ontology.org/term/DOID:0111745",
                            "evidence": [
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                                },
                                {
                                    "id": "0111745",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111745"
                                }
                            ]
                        }
                    ]
                }
            ],
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                {
                    "uniprot_canonical_ac": "P08473-1",
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                    "end_pos": 285,
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 85514.0
                }
            ]
        },
        {
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
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                        }
                    ],
                    "protein_name": "Neprilysin",
                    "gene_name": "MME",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 750,
                    "chemical_mass": 85514.0
                }
            ]
        },
        {
            "start_pos": "145",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
                    "start_pos": 145,
                    "end_pos": 145,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Neprilysin",
                    "gene_name": "MME",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 750,
                    "chemical_mass": 85514.0
                }
            ]
        },
        {
            "start_pos": "145",
            "site_seq": "SCINESAIDSR",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
                    "start_pos": 145,
                    "end_pos": 145,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Neprilysin",
                    "gene_name": "MME",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 750,
                    "chemical_mass": 85514.0
                }
            ]
        },
        {
            "start_pos": "285",
            "site_seq": "EIAnATAKPEDRNDPMLLYNK",
            "site_lbl": "Asn285",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
                    "start_pos": 285,
                    "end_pos": 285,
                    "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": "Neprilysin",
                    "gene_name": "MME",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 750,
                    "chemical_mass": 85514.0
                }
            ]
        },
        {
            "start_pos": "285",
            "site_seq": "EIAnATAKPEDR",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
                    "start_pos": 285,
                    "end_pos": 285,
                    "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": "Neprilysin",
                    "gene_name": "MME",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 750,
                    "chemical_mass": 85514.0
                }
            ]
        },
        {
            "start_pos": "285",
            "site_seq": "EIANATAKPEDR",
            "site_lbl": "Asn285",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
                    "start_pos": 285,
                    "end_pos": 285,
                    "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": "Neprilysin",
                    "gene_name": "MME",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 750,
                    "chemical_mass": 85514.0
                }
            ]
        },
        {
            "start_pos": "285",
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            "site_lbl": "Asn285",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
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                    "end_pos": 285,
                    "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": "Neprilysin",
                    "gene_name": "MME",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 750,
                    "chemical_mass": 85514.0
                }
            ]
        },
        {
            "start_pos": "145",
            "site_seq": "",
            "site_lbl": "N145",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "H",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NES->HES).",
                    "chr_id": "3",
                    "chr_pos": "155116553",
                    "evidence": [
                        {
                            "id": "P08473",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P08473"
                        }
                    ],
                    "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"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P08473-1",
                    "start_pos": 145,
                    "end_pos": 145,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
                        }
                    ],
                    "protein_name": "Neprilysin",
                    "gene_name": "MME",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 85514.0
                }
            ]
        },
        {
            "start_pos": "285",
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            "site_lbl": "N285",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "D",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->DAT).",
                    "chr_id": "3",
                    "chr_pos": "155138234",
                    "evidence": [
                        {
                            "id": "rs1339178202",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339178202"
                        },
                        {
                            "id": "rs1339178202",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339178202"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "I",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->IAT).",
                    "chr_id": "3",
                    "chr_pos": "155138235",
                    "evidence": [
                        {
                            "id": "rs200961860",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200961860"
                        },
                        {
                            "id": "rs200961860",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200961860"
                        },
                        {
                            "id": "rs200961860",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200961860"
                        },
                        {
                            "id": "rs200961860",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs200961860",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs200961860"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAT->KAT).",
                    "chr_id": "3",
                    "chr_pos": "155138236",
                    "evidence": [
                        {
                            "id": "P08473",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P08473"
                        },
                        {
                            "id": "rs1434664230",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434664230"
                        },
                        {
                            "id": "rs1434664230",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1434664230"
                        },
                        {
                            "id": "rs1434664230",
                            "database": "COSMIC",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1434664230"
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                    ],
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                            "evidence": [
                                {
                                    "id": "1324",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
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                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).",
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                        {
                            "id": "rs200961860",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs200961860",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200961860"
                        },
                        {
                            "id": "rs200961860",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200961860"
                        },
                        {
                            "id": "rs200961860",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs200961860",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs200961860"
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                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:0110160",
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                            "evidence": [
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0110160",
                            "name": "Charcot-Marie-Tooth disease axonal type 2T",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.",
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                            "evidence": [
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
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                            ]
                        },
                        {
                            "disease_id": "DOID:0110160",
                            "name": "Charcot-Marie-Tooth disease axonal type 2T",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.",
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                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110160",
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                            "evidence": [
                                {
                                    "id": "0110160",
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                },
                                {
                                    "id": "0110160",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110160"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110160",
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                                {
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                        {
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                        {
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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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                        {
                            "id": "rs368512832",
                            "database": "ExAC",
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                        {
                            "id": "rs368512832",
                            "database": "TOPMed",
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                        {
                            "id": "rs368512832",
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