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                            "database": "GlyConnect",
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                    ],
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                        {
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                        {
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        },
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                    ],
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                    "gene_name": "COL3A1",
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                    "tax_common_name": "Human",
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            ]
        },
        {
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                        {
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                    ],
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            ]
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        {
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                {
                    "uniprot_canonical_ac": "P02461-1",
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                        {
                            "database": "GlyConnect",
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                    ],
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            ]
        },
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                        {
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                        {
                            "id": "rs746580509",
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                            ]
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                                {
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                                {
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                    ],
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                    ],
                    "protein_name": "Collagen alpha-1(V) chain",
                    "gene_name": "COL5A1",
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            ]
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                            "database": "PubMed",
                            "id": "29741879",
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1128"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(V) chain",
                    "gene_name": "COL5A1",
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            ]
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                    ],
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                    "gene_name": "COL5A1",
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            ]
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                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
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                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1128"
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                    ],
                    "protein_name": "Collagen alpha-1(V) chain",
                    "gene_name": "COL5A1",
                    "tax_id": 9606,
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                    "tax_common_name": "Human",
                    "length": 1838,
                    "chemical_mass": 183560.0
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            ]
        },
        {
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                            "database": "PubMed",
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                    ],
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                    "gene_name": "COL5A1",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 183560.0
                }
            ]
        },
        {
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                    "uniprot_canonical_ac": "P20908-1",
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                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1128",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1128"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(V) chain",
                    "gene_name": "COL5A1",
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                    "tax_common_name": "Human",
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                    "chemical_mass": 183560.0
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            ]
        },
        {
            "start_pos": "1672",
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                    "uniprot_canonical_ac": "P20908-1",
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                    "end_pos": 1672,
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1128",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1128"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(V) chain",
                    "gene_name": "COL5A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1838,
                    "chemical_mass": 183560.0
                }
            ]
        },
        {
            "start_pos": "1672",
            "site_seq": "",
            "site_lbl": "N1672",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFT->KFT).",
                    "chr_id": "9",
                    "chr_pos": "134825853",
                    "evidence": [
                        {
                            "id": "P20908",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20908"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:5041",
                            "name": "esophageal cancer",
                            "description": "A gastrointestinal system cancer that is located_in the esophagus.",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "evidence": [
                                {
                                    "id": "5041",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:5041"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10534",
                            "name": "stomach cancer",
                            "description": "A gastrointestinal system cancer that is located_in the stomach.",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "evidence": [
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->SFT).",
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                    "chr_pos": "134825852",
                    "evidence": [
                        {
                            "id": "rs1839243054",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1839243054"
                        },
                        {
                            "id": "rs1839243054",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs1839243054#frequency_tab"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:13359",
                            "name": "Ehlers-Danlos syndrome",
                            "description": "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.",
                            "url": "http://disease-ontology.org/term/DOID:13359",
                            "evidence": [
                                {
                                    "id": "13359",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:13359"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:13359",
                            "name": "Ehlers-Danlos syndrome",
                            "description": "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.",
                            "url": "http://disease-ontology.org/term/DOID:13359",
                            "evidence": [
                                {
                                    "id": "13359",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:13359"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:14720",
                            "name": "Ehlers-Danlos syndrome classic type 1",
                            "description": "An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.",
                            "url": "http://disease-ontology.org/term/DOID:14720",
                            "evidence": [
                                {
                                    "id": "14720",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14720"
                                },
                                {
                                    "id": "14720",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14720"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:14720",
                            "name": "Ehlers-Danlos syndrome classic type 1",
                            "description": "An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.",
                            "url": "http://disease-ontology.org/term/DOID:14720",
                            "evidence": [
                                {
                                    "id": "14720",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14720"
                                },
                                {
                                    "id": "14720",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14720"
                                }
                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P20908-1",
                    "start_pos": 1672,
                    "end_pos": 1672,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1128",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1128"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(V) chain",
                    "gene_name": "COL5A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1838,
                    "chemical_mass": 183560.0
                }
            ]
        },
        {
            "start_pos": "1672",
            "site_seq": "VYCnFTAGGSTCVFPDK",
            "site_lbl": "Asn1672",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P20908-1",
                    "start_pos": 1672,
                    "end_pos": 1672,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1128",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1128"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(V) chain",
                    "gene_name": "COL5A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1838,
                    "chemical_mass": 183560.0
                }
            ]
        },
        {
            "start_pos": "1672",
            "site_seq": "N",
            "site_lbl": "Asn1672",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P20908-1",
                    "start_pos": 1672,
                    "end_pos": 1672,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1128",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1128"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(V) chain",
                    "gene_name": "COL5A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1838,
                    "chemical_mass": 183560.0
                }
            ]
        },
        {
            "start_pos": "1672",
            "site_seq": "VYCNFTAGGSTCVFPDKK",
            "site_lbl": "Asn1672",
            "residue": "Asn",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P20908-1",
                    "start_pos": 1672,
                    "end_pos": 1672,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1128",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1128"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(V) chain",
                    "gene_name": "COL5A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1838,
                    "chemical_mass": 183560.0
                }
            ]
        },
        {
            "start_pos": "1672",
            "site_seq": "",
            "site_lbl": "N1672",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFT->KFT).",
                    "chr_id": "9",
                    "chr_pos": "134825853",
                    "evidence": [
                        {
                            "id": "P20908",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P20908"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:5041",
                            "name": "esophageal cancer",
                            "description": "A gastrointestinal system cancer that is located_in the esophagus.",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "evidence": [
                                {
                                    "id": "5041",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:5041"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:10534",
                            "name": "stomach cancer",
                            "description": "A gastrointestinal system cancer that is located_in the stomach.",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "evidence": [
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                },
                                {
                                    "id": "10534",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10534"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->SFT).",
                    "chr_id": "9",
                    "chr_pos": "134825852",
                    "evidence": [
                        {
                            "id": "rs1839243054",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1839243054"
                        },
                        {
                            "id": "rs1839243054",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs1839243054#frequency_tab"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:13359",
                            "name": "Ehlers-Danlos syndrome",
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                            "url": "http://disease-ontology.org/term/DOID:13359",
                            "evidence": [
                                {
                                    "id": "13359",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:13359"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:13359",
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                            "url": "http://disease-ontology.org/term/DOID:13359",
                            "evidence": [
                                {
                                    "id": "13359",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:13359"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:14720",
                            "name": "Ehlers-Danlos syndrome classic type 1",
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                            "url": "http://disease-ontology.org/term/DOID:14720",
                            "evidence": [
                                {
                                    "id": "14720",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14720"
                                },
                                {
                                    "id": "14720",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14720"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:14720",
                            "name": "Ehlers-Danlos syndrome classic type 1",
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                            "url": "http://disease-ontology.org/term/DOID:14720",
                            "evidence": [
                                {
                                    "id": "14720",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14720"
                                },
                                {
                                    "id": "14720",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14720"
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                            ]
                        }
                    ]
                }
            ],
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P20908-1",
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
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                    ],
                    "protein_name": "Collagen alpha-1(V) chain",
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                    "chemical_mass": 183560.0
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            ]
        },
        {
            "start_pos": "804",
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                    "uniprot_canonical_ac": "P12109-1",
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1129"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(VI) chain",
                    "gene_name": "COL6A1",
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                    "chemical_mass": 108529.0
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            ]
        },
        {
            "start_pos": "804",
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                {
                    "uniprot_canonical_ac": "P12109-1",
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                    "evidence": [
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                            "database": "PubMed",
                            "id": "29741879",
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                        },
                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1129"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(VI) chain",
                    "gene_name": "COL6A1",
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                    "chemical_mass": 108529.0
                }
            ]
        },
        {
            "start_pos": "804",
            "site_seq": "NVTAQICIDKK",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12109-1",
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                    "end_pos": 804,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1129",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1129"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(VI) chain",
                    "gene_name": "COL6A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1028,
                    "chemical_mass": 108529.0
                }
            ]
        },
        {
            "start_pos": "804",
            "site_seq": "nVTAQICIDK",
            "site_lbl": "Asn804",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12109-1",
                    "start_pos": 804,
                    "end_pos": 804,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1129",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1129"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(VI) chain",
                    "gene_name": "COL6A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1028,
                    "chemical_mass": 108529.0
                }
            ]
        },
        {
            "start_pos": "804",
            "site_seq": "N",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12109-1",
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                    "end_pos": 804,
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                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1129"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(VI) chain",
                    "gene_name": "COL6A1",
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                    "tax_common_name": "Human",
                    "length": 1028,
                    "chemical_mass": 108529.0
                }
            ]
        },
        {
            "start_pos": "804",
            "site_seq": "NVTAQICIDKK",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12109-1",
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                    "end_pos": 804,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1129",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1129"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(VI) chain",
                    "gene_name": "COL6A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1028,
                    "chemical_mass": 108529.0
                }
            ]
        },
        {
            "start_pos": "804",
            "site_seq": "nVTAQICIDK",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12109-1",
                    "start_pos": 804,
                    "end_pos": 804,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1129",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1129"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(VI) chain",
                    "gene_name": "COL6A1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "length": 1028,
                    "chemical_mass": 108529.0
                }
            ]
        },
        {
            "start_pos": "804",
            "site_seq": "N",
            "site_lbl": "Asn804",
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            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P12109-1",
                    "start_pos": 804,
                    "end_pos": 804,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "1129",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1129"
                        }
                    ],
                    "protein_name": "Collagen alpha-1(VI) chain",
                    "gene_name": "COL6A1",
                    "tax_id": 9606,
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                    "tax_common_name": "Human",
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                    "chemical_mass": 108529.0
                }
            ]
        },
        {
            "start_pos": "804",
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                    "uniprot_canonical_ac": "P12109-1",
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "29741879",
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                        },
                        {
                            "database": "GlyConnect",
                            "id": "1129",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1129"
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                    ],
                    "protein_name": "Collagen alpha-1(VI) chain",
                    "gene_name": "COL6A1",
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                    "chemical_mass": 108529.0
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            ]
        },
        {
            "start_pos": "804",
            "site_seq": "",
            "site_lbl": "N804",
            "residue": "",
            "snv": [
                {
                    "weight": 100,
                    "sequence_org": "N",
                    "sequence_mut": "S",
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                    "chr_pos": "46002687",
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                            "id": "rs750677189",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs750677189",
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                        },
                        {
                            "id": "rs750677189",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs750677189#frequency_tab"
                        },
                        {
                            "id": "rs750677189",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs750677189"
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                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:0050663",
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                            "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"
                                }
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                                },
                                {
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                                },
                                {
                                    "id": "0060256",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0060256"
                                },
                                {
                                    "id": "0060256",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0060256"
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                            ]
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                                },
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                            "url": "https://glygen.org/publication/PubMed/29741879"
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                        {
                            "database": "GlyConnect",
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                    ],
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            ]
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1383"
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                    ],
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            ]
        },
        {
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                        {
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                            "id": "1383",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1383"
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                    ],
                    "protein_name": "Hypoxia up-regulated protein 1",
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            ]
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        {
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                        {
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                    ],
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                        },
                        {
                            "id": "rs2133605388",
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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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                        {
                            "id": "rs1944168165",
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                    ]
                },
                {
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                        {
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                        {
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                        {
                            "id": "rs2133557957",
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                        },
                        {
                            "id": "rs2133557957",
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                        },
                        {
                            "id": "rs2133557957",
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                        {
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                        {
                            "id": "rs2133551387",
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                    ]
                },
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                        {
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                        {
                            "id": "rs2133551439",
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        {
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                        {
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                    ],
                    "protein_name": "Hypoxia up-regulated protein 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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                            "id": "29741879",
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                        },
                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1383"
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                    ],
                    "protein_name": "Hypoxia up-regulated protein 1",
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                    "chemical_mass": 111335.0
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            ]
        },
        {
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                {
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                            "id": "29741879",
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                        },
                        {
                            "database": "GlyConnect",
                            "id": "1383",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1383"
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                    ],
                    "protein_name": "Hypoxia up-regulated protein 1",
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            ]
        },
        {
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                        {
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                    ],
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            ]
        },
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                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1383"
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                    ],
                    "protein_name": "Hypoxia up-regulated protein 1",
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            ]
        },
        {
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                {
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                        },
                        {
                            "database": "GlyConnect",
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                            "url": "https://glyconnect.expasy.org/browser/proteins/1383"
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                    ],
                    "protein_name": "Hypoxia up-regulated protein 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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                                    "url": "https://www.alliancegenome.org/disease/DOID:1324"
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                            ]
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                    ]
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            ],
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                        {
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                    ],
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                    ],
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                                {
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                            ]
                        }
                    ]
                },
                {
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                        {
                            "id": "rs2133574126",
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            ]
        },
        {
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                {
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                        {
                            "id": "rs1944168165",
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                    ]
                },
                {
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                        {
                            "id": "rs534349629",
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                        {
                            "id": "rs534349629",
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                        {
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                        },
                        {
                            "id": "rs2133557957",
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                        },
                        {
                            "id": "rs2133557957",
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                        },
                        {
                            "id": "rs2133557957",
                            "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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                            "id": "rs1317070841",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317070841"
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                        {
                            "id": "rs1317070841",
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                        },
                        {
                            "id": "rs2133551387",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs2133551387",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs2133551387"
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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).",
                    "chr_id": "11",
                    "chr_pos": "119046606",
                    "evidence": [
                        {
                            "id": "rs782171221",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782171221"
                        },
                        {
                            "id": "rs782171221",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs782171221#frequency_tab"
                        },
                        {
                            "id": "rs782171221",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs782171221"
                        },
                        {
                            "id": "rs2133551439",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2133551439"
                        },
                        {
                            "id": "rs2133551439",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2133551439"
                        },
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                        {
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                        {
                            "id": "rs200733186",
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                    ],
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                            "url": "http://disease-ontology.org/term/DOID:1612",
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                                {
                                    "id": "1612",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1612"
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                    ]
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                    ],
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                        {
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                        {
                            "id": "rs200705825",
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                        {
                            "id": "rs200705825",
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                    ]
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                    ]
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                        {
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                        {
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                            "disease_id": "DOID:0080217",
                            "name": "lysosomal acid lipase deficiency",
                            "description": "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31.",
                            "url": "http://disease-ontology.org/term/DOID:0080217",
                            "evidence": [
                                {
                                    "id": "0080217",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                                },
                                {
                                    "id": "0080217",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0080217",
                            "name": "lysosomal acid lipase deficiency",
                            "description": "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31.",
                            "url": "http://disease-ontology.org/term/DOID:0080217",
                            "evidence": [
                                {
                                    "id": "0080217",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                                },
                                {
                                    "id": "0080217",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:14502",
                            "name": "cholesterol ester storage disease",
                            "description": "A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen.",
                            "url": "http://disease-ontology.org/term/DOID:14502",
                            "evidence": [
                                {
                                    "id": "14502",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14502"
                                },
                                {
                                    "id": "14502",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14502"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:14502",
                            "name": "cholesterol ester storage disease",
                            "description": "A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen.",
                            "url": "http://disease-ontology.org/term/DOID:14502",
                            "evidence": [
                                {
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                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14502"
                                },
                                {
                                    "id": "14502",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14502"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:14497",
                            "name": "Wolman disease",
                            "description": "A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life.",
                            "url": "http://disease-ontology.org/term/DOID:14497",
                            "evidence": [
                                {
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                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14497"
                                },
                                {
                                    "id": "14497",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14497"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:14497",
                            "name": "Wolman disease",
                            "description": "A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life.",
                            "url": "http://disease-ontology.org/term/DOID:14497",
                            "evidence": [
                                {
                                    "id": "14497",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14497"
                                },
                                {
                                    "id": "14497",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:14497"
                                }
                            ]
                        }
                    ]
                }
            ],
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                {
                    "uniprot_canonical_ac": "P38571-1",
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                    "end_pos": 161,
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 45419.0
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                    ],
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                    ],
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            ]
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                        },
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                    ],
                    "protein_name": "Lysosomal acid phosphatase",
                    "gene_name": "ACP2",
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                    "chemical_mass": 48344.0
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            ]
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                    ],
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            ]
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                        }
                    ],
                    "protein_name": "Lysosomal acid phosphatase",
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                    ],
                    "protein_name": "Lysosomal acid phosphatase",
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            ]
        },
        {
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                    ],
                    "protein_name": "Lysosomal acid phosphatase",
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                    "chemical_mass": 48344.0
                }
            ]
        },
        {
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                        },
                        {
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                            "id": "1476",
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                        }
                    ],
                    "protein_name": "Lysosomal acid phosphatase",
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            ]
        },
        {
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                        {
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                        },
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                            "id": "1476",
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                        }
                    ],
                    "protein_name": "Lysosomal acid phosphatase",
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                    "chemical_mass": 48344.0
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            ]
        },
        {
            "start_pos": "167",
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            "site_lbl": "N167",
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                {
                    "weight": 100,
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                        {
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                    ],
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                            ]
                        }
                    ]
                }
            ],
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                    ],
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            ]
        },
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                    ],
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            ]
        },
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                    ],
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            ]
        },
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                    ],
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            ]
        },
        {
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            ],
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                    ],
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            ]
        },
        {
            "start_pos": "145",
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                    "uniprot_canonical_ac": "P10619-1",
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                            "database": "GlyConnect",
                            "id": "1477",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1477"
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                    ],
                    "protein_name": "Lysosomal protective protein",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 54466.0
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            ]
        },
        {
            "start_pos": "145",
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                {
                    "uniprot_canonical_ac": "P10619-1",
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                            "database": "PubMed",
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                        {
                            "database": "GlyConnect",
                            "id": "1477",
                            "url": "https://glyconnect.expasy.org/browser/proteins/1477"
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                    ],
                    "protein_name": "Lysosomal protective protein",
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            ]
        },
        {
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            ]
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                        {
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                        {
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                },
                {
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                        {
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                    ],
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                {
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                    ],
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                        {
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                        {
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                        {
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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": "TOPMed",
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                        },
                        {
                            "id": "rs757261971",
                            "database": "gnomAD",
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                    ]
                },
                {
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                        {
                            "id": "rs2042619552",
                            "database": "ENSEMBL",
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                    ]
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                        {
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                        {
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                    ],
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                                {
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                },
                {
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                                    "id": "1324",
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                        {
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                        {
                            "id": "rs749315723",
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                },
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                        {
                            "id": "rs1469959940",
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                        {
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                        {
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                        },
                        {
                            "database": "GlyConnect",
                            "id": "355",
                            "url": "https://glyconnect.expasy.org/browser/proteins/355"
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                    ],
                    "protein_name": "Lysosome-associated membrane glycoprotein 1",
                    "gene_name": "LAMP1",
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                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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            ]
        },
        {
            "start_pos": "322",
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                {
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                        {
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                            "url": "https://glyconnect.expasy.org/browser/proteins/355"
                        }
                    ],
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                    "tax_name": "Homo sapiens",
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            ]
        },
        {
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                {
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                        {
                            "database": "GlyConnect",
                            "id": "355",
                            "url": "https://glyconnect.expasy.org/browser/proteins/355"
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                    ],
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            ]
        },
        {
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                {
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                    "chr_pos": "113309766",
                    "evidence": [
                        {
                            "id": "rs757261971",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757261971"
                        },
                        {
                            "id": "rs757261971",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757261971"
                        },
                        {
                            "id": "rs757261971",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs757261971#frequency_tab"
                        },
                        {
                            "id": "rs757261971",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs757261971"
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->SFT).",
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                    "chr_pos": "113309767",
                    "evidence": [
                        {
                            "id": "rs2042619552",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2042619552"
                        },
                        {
                            "id": "rs2042619552",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs2042619552"
                        }
                    ]
                }
            ],
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                {
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                        },
                        {
                            "database": "GlyConnect",
                            "id": "355",
                            "url": "https://glyconnect.expasy.org/browser/proteins/355"
                        },
                        {
                            "database": "PubMed",
                            "id": "32125861",
                            "url": "https://glygen.org/publication/PubMed/32125861"
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                    ],
                    "protein_name": "Lysosome-associated membrane glycoprotein 1",
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            ]
        },
        {
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                {
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                        {
                            "id": "P11279",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11279"
                        }
                    ],
                    "disease": [
                        {
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                            "name": "liver cancer",
                            "description": "A hepatobiliary system cancer that is located_in the liver.",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "evidence": [
                                {
                                    "id": "3571",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3571"
                                }
                            ]
                        }
                    ]
                },
                {
                    "weight": 100,
                    "sequence_org": "N",
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                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NSS->SSS).",
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                        {
                            "id": "P11279",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11279"
                        },
                        {
                            "id": "rs1210069640",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1210069640"
                        },
                        {
                            "id": "rs1210069640",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1210069640"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:1324",
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                            "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"
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                            ]
                        }
                    ]
                }
            ],
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                {
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                        {
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                            "url": "https://glygen.org/publication/PubMed/29741879"
                        },
                        {
                            "database": "GlyConnect",
                            "id": "355",
                            "url": "https://glyconnect.expasy.org/browser/proteins/355"
                        }
                    ],
                    "protein_name": "Lysosome-associated membrane glycoprotein 1",
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            ]
        },
        {
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                {
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                    "evidence": [
                        {
                            "id": "rs749315723",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749315723"
                        },
                        {
                            "id": "rs749315723",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749315723"
                        },
                        {
                            "id": "rs749315723",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs749315723"
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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 (NKT->SKT).",
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                    "chr_pos": "113320376",
                    "evidence": [
                        {
                            "id": "rs1469959940",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469959940"
                        },
                        {
                            "id": "rs1469959940",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs1469959940#frequency_tab"
                        },
                        {
                            "id": "rs1469959940",
                            "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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                            "id": "rs985101210",
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                        {
                            "id": "rs985101210",
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                        },
                        {
                            "id": "rs985101210",
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                    ]
                },
                {
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                            "id": "rs985101210",
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                        {
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                        {
                            "id": "rs985101210",
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                    ]
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                    ],
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            ]
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                    ],
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            ]
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                    ],
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                    ],
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                    ],
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            ]
        },
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                        {
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                                {
                                    "id": "1324",
                                    "database": "AGR",
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                    "tax_common_name": "Human",
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                        {
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                        {
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                            "id": "29741879",
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                        },
                        {
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            ]
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                        {
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            ]
        },
        {
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        {
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                        {
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                    ],
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                        {
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            ]
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                    ],
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            ]
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                        {
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                    ],
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                                {
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                                {
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                                },
                                {
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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": "rs1046086978",
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                    ]
                },
                {
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                        {
                            "id": "rs1869575584",
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                    ]
                },
                {
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                    ],
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                                {
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                    ]
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                        {
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                        {
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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": "rs1046086978",
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                        {
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                                {
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            ]
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            ]
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            ]
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        {
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            ]
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            ]
        },
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            ]
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            ]
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            ]
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            ]
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                        {
                            "database": "PubMed",
                            "id": "33077685",
                            "url": "https://glygen.org/publication/PubMed/33077685"
                        }
                    ],
                    "protein_name": "Spike glycoprotein",
                    "gene_name": "S",
                    "tax_id": 2697049,
                    "tax_name": "Severe acute respiratory syndrome coronavirus 2",
                    "tax_common_name": "2019-nCoV",
                    "length": 1273,
                    "chemical_mass": 141178.0
                }
            ]
        }
    ],
    "record_id": "G06110VR"
}
