{
    "uniprot_canonical_ac": "Q8NH43-1",
    "uniprot_ac": "Q8NH43",
    "uniprot_id": "OR4L1_HUMAN",
    "mass": {
        "chemical_mass": 35264.0,
        "monoisotopic_mass": 35264.0
    },
    "refseq": {
        "ac": "NP_001004717",
        "name": "olfactory receptor 4L1",
        "summary": "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008].",
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004717"
    },
    "gene_names": [
        {
            "name": "OR4L1",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "https://www.uniprot.org/uniprot/Q8NH43",
            "id": "Q8NH43"
        },
        {
            "name": "OR14-28; OR4L2P",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004717",
            "id": "NP_001004717"
        },
        {
            "name": "OR4L1",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004717",
            "id": "NP_001004717"
        },
        {
            "name": "OR4L2P",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "https://www.uniprot.org/uniprot/Q8NH43",
            "id": "Q8NH43"
        }
    ],
    "protein_names": [
        {
            "name": "Olfactory receptor 4L1",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "",
            "id": "Q8NH43"
        },
        {
            "name": "Olfactory receptor 4L2",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "Q8NH43"
        },
        {
            "name": "Olfactory receptor OR14-28",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "Q8NH43"
        },
        {
            "name": "olfactory receptor 4L1",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004717",
            "id": "NP_001004717"
        },
        {
            "name": "olfactory receptor, family 4, subfamily L, member 2 pseudogene; olfactory receptor OR14-28; olfactory receptor 4L2",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004717",
            "id": "NP_001004717"
        }
    ],
    "function": [
        {
            "annotation": "Odorant receptor.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "Q8NH43",
                    "url": "https://www.uniprot.org/uniprot/Q8NH43#function"
                }
            ]
        },
        {
            "annotation": "Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008].",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001004717",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004717"
                }
            ]
        }
    ],
    "disease": [],
    "snv": [
        {
            "evidence": [
                {
                    "id": "rs766336684",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766336684"
                },
                {
                    "id": "rs766336684",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766336684"
                },
                {
                    "id": "rs766336684",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs766336684"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 167,
            "end_pos": 167,
            "sequence_org": "P",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLP->NLS).",
            "chr_id": "14",
            "chr_pos": "20060543",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "P167",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs766336684",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766336684"
                },
                {
                    "id": "rs766336684",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766336684"
                },
                {
                    "id": "rs766336684",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs766336684"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 167,
            "end_pos": 167,
            "sequence_org": "P",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLP->NLT).",
            "chr_id": "14",
            "chr_pos": "20060543",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "P167",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "Q8NH43",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8NH43"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 227,
            "end_pos": 227,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "K",
            "sequence_mut": "N",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KKS->NKS).",
            "chr_id": "14",
            "chr_pos": "20060725",
            "ref_nt": "A",
            "alt_nt": "C",
            "minor_allelic_frequency": "",
            "site_lbl": "K227",
            "disease": [
                {
                    "disease_id": "DOID:363",
                    "recommended_name": {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:363",
                        "name": "uterine cancer",
                        "description": "A female reproductive organ cancer that is located_in the uterus."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "CA - cancer of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "Tumour of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterus neoplasm",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1217721897",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1217721897"
                },
                {
                    "id": "rs1217721897",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1217721897#frequency_tab"
                },
                {
                    "id": "rs1217721897",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1217721897"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 268,
            "end_pos": 268,
            "sequence_org": "N",
            "sequence_mut": "K",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->KKT).",
            "chr_id": "14",
            "chr_pos": "20060848",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N268",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs945890875",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs945890875"
                },
                {
                    "id": "rs945890875",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs945890875#frequency_tab"
                },
                {
                    "id": "rs945890875",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs945890875"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 268,
            "end_pos": 268,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->SKT).",
            "chr_id": "14",
            "chr_pos": "20060847",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N268",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "Q8NH43",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8NH43"
                },
                {
                    "id": "rs768560229",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768560229"
                },
                {
                    "id": "rs768560229",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768560229"
                },
                {
                    "id": "rs768560229",
                    "database": "NCI-TCGA",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768560229"
                },
                {
                    "id": "rs768560229",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs768560229#frequency_tab"
                },
                {
                    "id": "rs768560229",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs768560229"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 284,
            "end_pos": 284,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "P",
            "sequence_mut": "L",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NLS).",
            "chr_id": "14",
            "chr_pos": "20060895",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "P284",
            "disease": [
                {
                    "disease_id": "DOID:363",
                    "recommended_name": {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:363",
                        "name": "uterine cancer",
                        "description": "A female reproductive organ cancer that is located_in the uterus."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "CA - cancer of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "Tumour of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterus neoplasm",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease",
                "ebi"
            ]
        },
        {
            "evidence": [
                {
                    "id": "Q8NH43",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8NH43"
                }
            ],
            "glycoeffect": [],
            "start_pos": 302,
            "end_pos": 302,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "R",
            "sequence_mut": "W",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
            "chr_id": "14",
            "chr_pos": "20060948",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "R302",
            "disease": [
                {
                    "disease_id": "DOID:1324",
                    "recommended_name": {
                        "id": "DOID:1324",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1324",
                        "name": "lung cancer",
                        "description": "A respiratory system cancer that is located_in the lung."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "LNCR1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "LNCR3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "adenocarcinoma of lung, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "LNCR4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "LNCR5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": "A malignant neoplasm involving the lung."
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "cancer of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "Nonsmall cell lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "alveolar cell carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MIM:211980",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/211980",
                            "name": "Lung cancer",
                            "description": "Lung cancer"
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                    ]
                },
                {
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                        {
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                        {
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                            "resource": "Disease Ontology",
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                        {
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                            "resource": "Disease Ontology",
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                        {
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                            "resource": "Disease Ontology",
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                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
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                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
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                    ]
                },
                {
                    "disease_id": "DOID:10534",
                    "recommended_name": {
                        "id": "DOID:10534",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:10534",
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                    "synonyms": [
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the stomach."
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca lesser curvature - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "cancer of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer risk after h. pylori infection",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant stomach neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of greater curve of stomach",
                            "description": ""
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                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            "description": ""
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                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca body - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, intestinal",
                            "description": ""
                        },
                        {
                            "id": "MIM:613659",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/613659",
                            "name": "Gastric cancer",
                            "description": "Gastric cancer"
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                }
            ],
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        },
        {
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                {
                    "id": "rs377702416",
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                {
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                "germline"
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        },
        {
            "evidence": [
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                    "id": "rs1398895944",
                    "database": "dbSNP",
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                },
                {
                    "id": "rs1398895944",
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                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398895944"
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            ],
            "glycoeffect": [
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            "start_pos": 5,
            "end_pos": 5,
            "sequence_org": "N",
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            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->KGS).",
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            "site_lbl": "N5",
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                "germline"
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        },
        {
            "evidence": [
                {
                    "id": "Q8NH43",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8NH43"
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                {
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                {
                    "id": "rs771565915",
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                {
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                {
                    "id": "rs771565915",
                    "database": "gnomAD",
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                        {
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                        {
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                        {
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                        {
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            ],
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                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "LNCR3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "adenocarcinoma of lung, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "LNCR5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": "A malignant neoplasm involving the lung."
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "cancer of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, somatic",
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                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
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                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
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                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
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                            "name": "malignant lung tumour",
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                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
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                        {
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                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
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                            "description": ""
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                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0008903",
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                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0008903",
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                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
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                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
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                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
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                            "id": "MIM:211980",
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                }
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        {
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            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9752946",
            "resource": "Reactome",
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                "length": 309
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                    "id": "45242883",
                    "url": "http://www.informatics.jax.org/homology/45242883",
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                    "id": "45242882",
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                    "url": "http://www.informatics.jax.org/homology/45242883",
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        },
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        }
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                            }
                        ],
                        "pmid": ""
                    },
                    {
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                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984",
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                                "id": "Q8NH43",
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                            }
                        ],
                        "pmid": ""
                    }
                ]
            },
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                "name": "Cellular Component",
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                "go_terms": [
                    {
                        "name": "plasma membrane",
                        "id": "GO:0005886",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886",
                        "evidence": [
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                                "id": "Q8NH43",
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            "end_pos": 270,
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            "annotation": "n_glycosylation_sequon"
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    "ptm_annotation": [],
    "interactions": [],
    "reactions": [],
    "reaction_participants": [],
    "reaction_enzymes": [],
    "biomarkers": [],
    "synthesized_glycans": [],
    "cluster_types": [
        {
            "name": "homologset.mgi",
            "label": "MGI Homologs"
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                    "field": "o_linked_glycans",
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}
