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                            "database": "gnomAD",
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                                {
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                                {
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                                {
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                                {
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                                {
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                                {
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                                {
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                                {
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                                },
                                {
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                            ]
                        },
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                                {
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                                {
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                                },
                                {
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                                },
                                {
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                                {
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                                {
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                                {
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                                    "url": "https://www.alliancegenome.org/disease/DOID:0060256"
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                            ]
                        }
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                },
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                        {
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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": "232300",
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                                },
                                {
                                    "id": "2752",
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                            ]
                        }
                    ]
                },
                {
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                        {
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                        {
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                        {
                            "id": "rs560661191",
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                        {
                            "id": "rs560661191",
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                                {
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                                {
                                    "id": "2752",
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                            ]
                        },
                        {
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                                {
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                                {
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                            ]
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                                {
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                            ]
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                        {
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                                {
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                                {
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                                {
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                                {
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                    "chr_pos": "62352040",
                    "evidence": [
                        {
                            "id": "rs1162622428",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1162622428"
                        },
                        {
                            "id": "rs1162622428",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs1162622428#frequency_tab"
                        },
                        {
                            "id": "rs1162622428",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1162622428"
                        }
                    ]
                },
                {
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->SFS).",
                    "chr_id": "20",
                    "chr_pos": "62352039",
                    "evidence": [
                        {
                            "id": "rs1284302160",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284302160"
                        },
                        {
                            "id": "rs1284302160",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284302160"
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                    ]
                }
            ],
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                {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Laminin subunit alpha-5",
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                    "tax_name": "Homo sapiens",
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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 (NTT->HTT).",
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                        {
                            "id": "O15230",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O15230"
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                    ],
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                        {
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                                {
                                    "id": "10283",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:10283"
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                            ]
                        }
                    ]
                },
                {
                    "sequence_org": "N",
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                        {
                            "id": "rs759232226",
                            "database": "dbSNP",
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                        },
                        {
                            "id": "rs759232226",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759232226"
                        },
                        {
                            "id": "rs759232226",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs759232226#frequency_tab"
                        },
                        {
                            "id": "rs759232226",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs759232226"
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Laminin subunit alpha-5",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 399737.0
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            ]
        },
        {
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            "end_pos": "961",
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                {
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->SFS).",
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                    "chr_pos": "62311650",
                    "evidence": [
                        {
                            "id": "rs1346604531",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1346604531"
                        },
                        {
                            "id": "rs1346604531",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs1346604531#frequency_tab"
                        },
                        {
                            "id": "rs1346604531",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1346604531"
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                    ]
                }
            ],
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                {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Laminin subunit alpha-5",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 399737.0
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            ]
        },
        {
            "start_pos": "95",
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                {
                    "sequence_org": "N",
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                    "chr_pos": "62366962",
                    "evidence": [
                        {
                            "id": "rs575354316",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575354316"
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                        {
                            "id": "rs575354316",
                            "database": "1000Genomes",
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                    ]
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            ],
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                {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
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                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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            ]
        },
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                        {
                            "id": "rs2492161163",
                            "database": "dbSNP",
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
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                        {
                            "id": "rs1842615728",
                            "database": "dbSNP",
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                        {
                            "id": "rs1842615728",
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                    ]
                },
                {
                    "sequence_org": "N",
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                        {
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                        {
                            "id": "rs765059540",
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                        {
                            "id": "rs1842246414",
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                    ]
                },
                {
                    "sequence_org": "N",
                    "sequence_mut": "I",
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                        {
                            "id": "rs569527072",
                            "database": "dbSNP",
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                        {
                            "id": "rs569527072",
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                        {
                            "id": "rs569527072",
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                        {
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                        {
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                    ]
                },
                {
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                        {
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                        {
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                        {
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                                {
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                            ]
                        },
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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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                        {
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                        {
                            "id": "rs569527072",
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                        {
                            "id": "rs569527072",
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                        {
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                    ],
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            ]
        },
        {
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                {
                    "sequence_org": "N",
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                        {
                            "id": "rs760129807",
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                        {
                            "id": "rs760129807",
                            "database": "ExAC",
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                        },
                        {
                            "id": "rs760129807",
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                    ]
                },
                {
                    "sequence_org": "N",
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                        {
                            "id": "O60494",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60494"
                        }
                    ],
                    "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"
                                }
                            ]
                        }
                    ]
                }
            ],
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            "glycoprotein": [
                {
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                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Cubilin",
                    "gene_name": "CUBN",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "chemical_mass": 398736.0
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            ]
        },
        {
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                {
                    "sequence_org": "N",
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                    "chr_pos": "16915832",
                    "evidence": [
                        {
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                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749612844"
                        },
                        {
                            "id": "rs749612844",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs749612844"
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                    ]
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                {
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                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
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                    "gene_name": "CUBN",
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                    "tax_name": "Homo sapiens",
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                    "length": 3623,
                    "chemical_mass": 398736.0
                }
            ]
        },
        {
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            "site_lbl": "Asn2531",
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                {
                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->KVS).",
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                    "chr_pos": "16907620",
                    "evidence": [
                        {
                            "id": "rs555761842",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555761842"
                        },
                        {
                            "id": "rs555761842",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs555761842"
                        },
                        {
                            "id": "rs555761842",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs555761842"
                        },
                        {
                            "id": "rs555761842",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs555761842"
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                    ]
                }
            ],
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                {
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Cubilin",
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                    "tax_name": "Homo sapiens",
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                    "chemical_mass": 398736.0
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            ]
        },
        {
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                        {
                            "id": "rs1840293875",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1840293875"
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                        {
                            "id": "rs1840293875",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs1840293875"
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                    ]
                },
                {
                    "sequence_org": "N",
                    "sequence_mut": "Y",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->YNS).",
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                    "evidence": [
                        {
                            "id": "rs756429821",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756429821"
                        },
                        {
                            "id": "rs756429821",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756429821"
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                        {
                            "id": "rs756429821",
                            "database": "gnomAD",
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                    ]
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                        {
                            "database": "PubMed",
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                            "url": "https://glygen.org/publication/PubMed/37074911"
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                        {
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                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
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            ]
        },
        {
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                            "database": "dbSNP",
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                        {
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781587982"
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                        {
                            "id": "rs781587982",
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                        {
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                    ]
                },
                {
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                        {
                            "id": "rs1390977420",
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                        },
                        {
                            "id": "rs1390977420",
                            "database": "TOPMed",
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                        },
                        {
                            "id": "rs1390977420",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1390977420"
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                    ]
                },
                {
                    "sequence_org": "N",
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                    ],
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                                {
                                    "id": "363",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:363"
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            ]
        },
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                    "evidence": [
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                            "database": "dbSNP",
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                        {
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            ]
        },
        {
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                        {
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                    ],
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                                {
                                    "id": "3571",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3571"
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            ]
        },
        {
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                        {
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                        {
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                        {
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                        {
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                    ],
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            ]
        },
        {
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            ]
        },
        {
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                        {
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                        {
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                    ],
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            ]
        },
        {
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                        {
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                    ]
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                    ],
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                    "length": 1624,
                    "chemical_mass": 173435.0
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            ]
        },
        {
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                {
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->SGS).",
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                    "chr_pos": "40606293",
                    "evidence": [
                        {
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757515562"
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                        {
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                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757515562"
                        },
                        {
                            "id": "rs757515562",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs757515562"
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                    ]
                },
                {
                    "sequence_org": "N",
                    "sequence_mut": "Y",
                    "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->YGS).",
                    "chr_id": "19",
                    "chr_pos": "40606292",
                    "evidence": [
                        {
                            "id": "rs1184228628",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1184228628"
                        },
                        {
                            "id": "rs1184228628",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1184228628"
                        },
                        {
                            "id": "rs1184228628",
                            "database": "COSMIC",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1184228628"
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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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                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
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                    "length": 1624,
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            ]
        },
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                    "chr_pos": "15645006",
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                        {
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774427382"
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                        {
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774427382"
                        },
                        {
                            "id": "rs774427382",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs774427382"
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                    ]
                }
            ],
            "mutagenesis": [
                {
                    "sequence_org": "N",
                    "sequence_mut": "I",
                    "comment": "Loss of localization to the cell membrane. Abolishes processing by BACE2. Loss of localization to the cell membrane; when associated with I-93.",
                    "evidence": [
                        {
                            "database": "UniProtKB",
                            "id": "Q9HBJ8",
                            "url": "https://www.uniprot.org/uniprotkb/Q9HBJ8"
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                        {
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                            "url": "https://glygen.org/publication/PubMed/22628310"
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                    ]
                }
            ],
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                {
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                        {
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                    ],
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                    "length": 222,
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            ]
        },
        {
            "start_pos": "386",
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                {
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->TLT).",
                    "chr_id": "3",
                    "chr_pos": "45095436",
                    "evidence": [
                        {
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                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1272493694"
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                        {
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                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs1272493694#frequency_tab"
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                        {
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            ],
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                    ],
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            ]
        },
        {
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                    "chr_pos": "121621130",
                    "evidence": [
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1863717703"
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                        {
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                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1863717703"
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                    ]
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            ],
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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.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778350836"
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                        {
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                        {
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            ]
        },
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                    ],
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            ]
        },
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                        {
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                        {
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            ],
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                    ],
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            ]
        },
        {
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                        {
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            ],
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                    ],
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        },
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                    ],
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            ]
        },
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                        {
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                        {
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                    ]
                },
                {
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                        {
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                    ]
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            ],
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                    ],
                    "protein_name": "Probable serine carboxypeptidase CPVL",
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                    "length": 476,
                    "chemical_mass": 54164.0
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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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                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/616491"
                                },
                                {
                                    "id": "0110178",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "evidence": [
                                {
                                    "id": "0009656",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                                },
                                {
                                    "id": "252920",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252920"
                                },
                                {
                                    "id": "4669",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                                },
                                {
                                    "id": "0111394",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "evidence": [
                                {
                                    "id": "0009656",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                                },
                                {
                                    "id": "252920",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252920"
                                },
                                {
                                    "id": "4669",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                                },
                                {
                                    "id": "0111394",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "evidence": [
                                {
                                    "id": "0009656",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                                },
                                {
                                    "id": "252920",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252920"
                                },
                                {
                                    "id": "4669",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                                },
                                {
                                    "id": "0111394",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                                }
                            ]
                        }
                    ]
                },
                {
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 0 out of 0 filters:",
                    "chr_id": "17",
                    "chr_pos": "42543514",
                    "evidence": [
                        {
                            "id": "rs757325483",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757325483"
                        },
                        {
                            "id": "rs757325483",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757325483"
                        },
                        {
                            "id": "rs757325483",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs757325483#frequency_tab"
                        },
                        {
                            "id": "rs757325483",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs757325483"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:0110178",
                            "name": "Charcot-Marie-Tooth disease axonal type 2V",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.",
                            "url": "http://disease-ontology.org/term/DOID:0110178",
                            "evidence": [
                                {
                                    "id": "616491",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/616491"
                                },
                                {
                                    "id": "0110178",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110178",
                            "name": "Charcot-Marie-Tooth disease axonal type 2V",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.",
                            "url": "http://disease-ontology.org/term/DOID:0110178",
                            "evidence": [
                                {
                                    "id": "616491",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/616491"
                                },
                                {
                                    "id": "0110178",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110178",
                            "name": "Charcot-Marie-Tooth disease axonal type 2V",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.",
                            "url": "http://disease-ontology.org/term/DOID:0110178",
                            "evidence": [
                                {
                                    "id": "616491",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/616491"
                                },
                                {
                                    "id": "0110178",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0110178",
                            "name": "Charcot-Marie-Tooth disease axonal type 2V",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.",
                            "url": "http://disease-ontology.org/term/DOID:0110178",
                            "evidence": [
                                {
                                    "id": "616491",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/616491"
                                },
                                {
                                    "id": "0110178",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "evidence": [
                                {
                                    "id": "0009656",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                                },
                                {
                                    "id": "252920",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252920"
                                },
                                {
                                    "id": "4669",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                                },
                                {
                                    "id": "0111394",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "evidence": [
                                {
                                    "id": "0009656",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                                },
                                {
                                    "id": "252920",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252920"
                                },
                                {
                                    "id": "4669",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                                },
                                {
                                    "id": "0111394",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "evidence": [
                                {
                                    "id": "0009656",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                                },
                                {
                                    "id": "252920",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252920"
                                },
                                {
                                    "id": "4669",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                                },
                                {
                                    "id": "0111394",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                                }
                            ]
                        },
                        {
                            "disease_id": "DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "evidence": [
                                {
                                    "id": "0009656",
                                    "database": "MONDO",
                                    "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                                },
                                {
                                    "id": "252920",
                                    "database": "MIM",
                                    "url": "https://www.omim.org/entry/252920"
                                },
                                {
                                    "id": "4669",
                                    "database": "GlyCosmos",
                                    "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                                },
                                {
                                    "id": "0111394",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                                }
                            ]
                        }
                    ]
                },
                {
                    "sequence_org": "N",
                    "sequence_mut": "T",
                    "comment": "Germline mutation passed 0 out of 0 filters:",
                    "chr_id": "17",
                    "chr_pos": "42543514",
                    "evidence": [
                        {
                            "id": "rs757325483",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757325483"
                        },
                        {
                            "id": "rs757325483",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757325483"
                        },
                        {
                            "id": "rs757325483",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs757325483#frequency_tab"
                        },
                        {
                            "id": "rs757325483",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs757325483"
                        }
                    ]
                }
            ],
            "uniprot_canonical_ac": "P54802-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "P54802-1",
                    "start_pos": 503,
                    "end_pos": 503,
                    "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": "Alpha-N-acetylglucosaminidase",
                    "gene_name": "NAGLU",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "weight": 27.9,
                    "length": 743,
                    "chemical_mass": 82266.0
                }
            ]
        },
        {
            "start_pos": "221",
            "end_pos": "892",
            "site_lbl": "Asn221",
            "weight": 0.0,
            "snv": [
                {
                    "sequence_org": "N",
                    "sequence_mut": "D",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->DFS).",
                    "chr_id": "8",
                    "chr_pos": "97931471",
                    "evidence": [
                        {
                            "id": "rs760010717",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760010717"
                        },
                        {
                            "id": "rs760010717",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760010717"
                        },
                        {
                            "id": "rs760010717",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs760010717#frequency_tab"
                        },
                        {
                            "id": "rs760010717",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs760010717"
                        }
                    ]
                },
                {
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->SFS).",
                    "chr_id": "8",
                    "chr_pos": "97931472",
                    "evidence": [
                        {
                            "id": "rs754832592",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754832592"
                        },
                        {
                            "id": "rs754832592",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754832592"
                        },
                        {
                            "id": "rs754832592",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs754832592#frequency_tab"
                        },
                        {
                            "id": "rs754832592",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs754832592"
                        }
                    ]
                },
                {
                    "sequence_org": "N",
                    "sequence_mut": "T",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->TFS).",
                    "chr_id": "8",
                    "chr_pos": "97931472",
                    "evidence": [
                        {
                            "id": "rs754832592",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754832592"
                        },
                        {
                            "id": "rs754832592",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754832592"
                        },
                        {
                            "id": "rs754832592",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs754832592#frequency_tab"
                        },
                        {
                            "id": "rs754832592",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs754832592"
                        }
                    ]
                }
            ],
            "uniprot_canonical_ac": "O00339-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "O00339-1",
                    "start_pos": 221,
                    "end_pos": 221,
                    "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": "Matrilin-2",
                    "gene_name": "MATN2",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "weight": 8.5,
                    "length": 956,
                    "chemical_mass": 106837.0
                }
            ]
        },
        {
            "start_pos": "766",
            "end_pos": "9",
            "site_lbl": "Asn766",
            "weight": 0.0,
            "snv": [
                {
                    "sequence_org": "N",
                    "sequence_mut": "null",
                    "comment": "Germline mutation passed 0 out of 0 filters:",
                    "chr_id": "19",
                    "chr_pos": "12649404_12649410",
                    "evidence": [
                        {
                            "id": "rs2512488403",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2512488403"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:3413",
                            "name": "alpha-mannosidosis",
                            "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.",
                            "url": "http://disease-ontology.org/term/DOID:3413",
                            "evidence": [
                                {
                                    "id": "3413",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3413"
                                },
                                {
                                    "id": "3413",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:3413"
                                }
                            ]
                        }
                    ]
                }
            ],
            "uniprot_canonical_ac": "O00754-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "O00754-1",
                    "start_pos": 766,
                    "end_pos": 766,
                    "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": "Lysosomal alpha-mannosidase",
                    "gene_name": "MAN2B1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "weight": 29.9,
                    "length": 1011,
                    "chemical_mass": 113744.0
                }
            ]
        },
        {
            "start_pos": "930",
            "end_pos": "9",
            "site_lbl": "Asn930",
            "weight": 0.0,
            "snv": [
                {
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 0 out of 0 filters:",
                    "chr_id": "19",
                    "chr_pos": "12647473",
                    "evidence": [
                        {
                            "id": "rs1599338232",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599338232"
                        },
                        {
                            "id": "rs1599338232",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs1599338232"
                        }
                    ]
                }
            ],
            "uniprot_canonical_ac": "O00754-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "O00754-1",
                    "start_pos": 930,
                    "end_pos": 930,
                    "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": "Lysosomal alpha-mannosidase",
                    "gene_name": "MAN2B1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "weight": 29.9,
                    "length": 1011,
                    "chemical_mass": 113744.0
                }
            ]
        },
        {
            "start_pos": "418",
            "end_pos": "693",
            "site_lbl": "Asn418",
            "weight": 0.0,
            "snv": [
                {
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->SDS).",
                    "chr_id": "6",
                    "chr_pos": "117540921",
                    "evidence": [
                        {
                            "id": "rs762879191",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762879191"
                        },
                        {
                            "id": "rs762879191",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762879191"
                        },
                        {
                            "id": "rs762879191",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs762879191"
                        }
                    ]
                },
                {
                    "sequence_org": "N",
                    "sequence_mut": "T",
                    "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NDS->TDS).",
                    "chr_id": "6",
                    "chr_pos": "117540921",
                    "evidence": [
                        {
                            "id": "Q8N8Z6",
                            "database": "BioMuta",
                            "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N8Z6"
                        }
                    ],
                    "disease": [
                        {
                            "disease_id": "DOID:1319",
                            "name": "brain cancer",
                            "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "evidence": [
                                {
                                    "id": "1319",
                                    "database": "AGR",
                                    "url": "https://www.alliancegenome.org/disease/DOID:1319"
                                }
                            ]
                        }
                    ]
                }
            ],
            "uniprot_canonical_ac": "Q8N8Z6-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q8N8Z6-1",
                    "start_pos": 418,
                    "end_pos": 418,
                    "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": "Discoidin, CUB and LCCL domain-containing protein 1",
                    "gene_name": "DCBLD1",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "weight": 5.4,
                    "length": 715,
                    "chemical_mass": 77920.0
                }
            ]
        },
        {
            "start_pos": "313",
            "end_pos": "9",
            "site_lbl": "Asn313",
            "weight": 0.0,
            "uniprot_canonical_ac": "Q6UWM9-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q6UWM9-1",
                    "start_pos": 313,
                    "end_pos": 313,
                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
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                            "id": "PDC000471",
                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "UDP-glucuronosyltransferase 2A3",
                    "gene_name": "UGT2A3",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
                    "weight": 9.8,
                    "length": 527,
                    "chemical_mass": 60254.0
                }
            ]
        },
        {
            "start_pos": "398",
            "end_pos": "99",
            "site_lbl": "Asn398",
            "weight": 0.0,
            "snv": [
                {
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->SAT).",
                    "chr_id": "16",
                    "chr_pos": "68259611",
                    "evidence": [
                        {
                            "id": "rs928127490",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs928127490"
                        },
                        {
                            "id": "rs928127490",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs928127490"
                        }
                    ]
                }
            ],
            "mutagenesis": [
                {
                    "sequence_org": "N",
                    "sequence_mut": "A",
                    "comment": "Loss of glycosylation site. Slightly reduces production of the mature, active enzyme.",
                    "evidence": [
                        {
                            "database": "UniProtKB",
                            "id": "Q8NCC3",
                            "url": "https://www.uniprot.org/uniprotkb/Q8NCC3"
                        },
                        {
                            "database": "PubMed",
                            "id": "23958596",
                            "url": "https://glygen.org/publication/PubMed/23958596"
                        }
                    ]
                }
            ],
            "uniprot_canonical_ac": "Q8NCC3-1",
            "glycoprotein": [
                {
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                    "start_pos": 398,
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                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
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                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Lysosomal phospholipase A and acyltransferase",
                    "gene_name": "PLA2G15",
                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "length": 412,
                    "chemical_mass": 46658.0
                }
            ]
        },
        {
            "start_pos": "108",
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                {
                    "sequence_org": "N",
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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->STT).",
                    "chr_id": "1",
                    "chr_pos": "87073132",
                    "evidence": [
                        {
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                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238033093"
                        },
                        {
                            "id": "rs1238033093",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs1238033093#frequency_tab"
                        },
                        {
                            "id": "rs1238033093",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238033093"
                        }
                    ]
                }
            ],
            "uniprot_canonical_ac": "Q7LGA3-1",
            "glycoprotein": [
                {
                    "uniprot_canonical_ac": "Q7LGA3-1",
                    "start_pos": 108,
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                    "residue": "Asn",
                    "evidence": [
                        {
                            "database": "PubMed",
                            "id": "37074911",
                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
                            "database": "PDC",
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                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Heparan sulfate 2-O-sulfotransferase 1",
                    "gene_name": "HS2ST1",
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                    "tax_name": "Homo sapiens",
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                    "length": 356,
                    "chemical_mass": 41881.0
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            ]
        },
        {
            "start_pos": "730",
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                    "sequence_mut": "D",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->DDS).",
                    "chr_id": "9",
                    "chr_pos": "5798888",
                    "evidence": [
                        {
                            "id": "rs1828555439",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1828555439"
                        },
                        {
                            "id": "rs1828555439",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs1828555439"
                        }
                    ]
                },
                {
                    "sequence_org": "N",
                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->KDS).",
                    "chr_id": "9",
                    "chr_pos": "5798886",
                    "evidence": [
                        {
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                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745885889"
                        },
                        {
                            "id": "rs745885889",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745885889"
                        },
                        {
                            "id": "rs745885889",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs745885889#frequency_tab"
                        },
                        {
                            "id": "rs745885889",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs745885889"
                        },
                        {
                            "id": "rs1232699698",
                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232699698"
                        },
                        {
                            "id": "rs1232699698",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232699698"
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                    ]
                },
                {
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDS->SDS).",
                    "chr_id": "9",
                    "chr_pos": "5798887",
                    "evidence": [
                        {
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                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138024406"
                        },
                        {
                            "id": "rs138024406",
                            "database": "1000Genomes",
                            "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138024406"
                        },
                        {
                            "id": "rs138024406",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138024406"
                        },
                        {
                            "id": "rs138024406",
                            "database": "TOPMed",
                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs138024406#frequency_tab"
                        },
                        {
                            "id": "rs138024406",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs138024406"
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                    ]
                }
            ],
            "uniprot_canonical_ac": "Q7Z2K6-1",
            "glycoprotein": [
                {
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                    "evidence": [
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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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                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->DRT).",
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                    "chr_pos": "45252666",
                    "evidence": [
                        {
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                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2135890258"
                        },
                        {
                            "id": "rs2135890258",
                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs2135890258"
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                    ]
                },
                {
                    "sequence_org": "N",
                    "sequence_mut": "S",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->SRT).",
                    "chr_id": "11",
                    "chr_pos": "45252665",
                    "evidence": [
                        {
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                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762204585"
                        },
                        {
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                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762204585"
                        },
                        {
                            "id": "rs762204585",
                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs762204585"
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                    ]
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            ],
            "uniprot_canonical_ac": "Q7L8C5-1",
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                        {
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                    ],
                    "protein_name": "Synaptotagmin-13",
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            ]
        },
        {
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            "glycoprotein": [
                {
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                        },
                        {
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                    ],
                    "protein_name": "Target of Nesh-SH3",
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            ]
        },
        {
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                    "chr_id": "3",
                    "chr_pos": "146076831",
                    "evidence": [
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                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1032220027"
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                        {
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                            "database": "ENSEMBL",
                            "url": "https://www.ensembl.org/id/rs1032220027"
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                    ]
                }
            ],
            "uniprot_canonical_ac": "O00469-1",
            "glycoprotein": [
                {
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                    "evidence": [
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                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
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                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2",
                    "gene_name": "PLOD2",
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                    "length": 737,
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            ]
        },
        {
            "start_pos": "188",
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            "snv": [
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                    "sequence_mut": "I",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->IST).",
                    "chr_id": "1",
                    "chr_pos": "78938113",
                    "evidence": [
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779889438"
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                        {
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779889438"
                        },
                        {
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                            "database": "gnomAD",
                            "url": "http://gnomad.broadinstitute.org/awesome?query=rs779889438"
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                    ]
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            ],
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                        {
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                    ],
                    "protein_name": "Adhesion G protein-coupled receptor L4",
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            ]
        },
        {
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            "snv": [
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                    "comment": "Germline mutation passed 0 out of 0 filters:",
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                    "chr_pos": "119469893",
                    "evidence": [
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                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2473016761"
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                    ]
                }
            ],
            "uniprot_canonical_ac": "Q8NBL1-1",
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                {
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                    "evidence": [
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                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
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                    ],
                    "protein_name": "Protein O-glucosyltransferase 1",
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            ]
        },
        {
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            "glycoprotein": [
                {
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                    "evidence": [
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                            "url": "https://glygen.org/publication/PubMed/37074911"
                        },
                        {
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                            "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471"
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                    ],
                    "protein_name": "Calumenin",
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                    "tax_id": 9606,
                    "tax_name": "Homo sapiens",
                    "tax_common_name": "Human",
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                    "length": 315,
                    "chemical_mass": 37107.0
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            ]
        },
        {
            "start_pos": "439",
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            "site_lbl": "Asn439",
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            "snv": [
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                    "sequence_mut": "K",
                    "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHT->KHT).",
                    "chr_id": "10",
                    "chr_pos": "86943467",
                    "evidence": [
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                            "database": "dbSNP",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763050868"
                        },
                        {
                            "id": "rs763050868",
                            "database": "ExAC",
                            "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763050868"
                        },
                        {
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                            "url": "https://www.ncbi.nlm.nih.gov/snp/rs763050868#frequency_tab"
                        },
                        {
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}
