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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368593151"
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                    {
                        "id": "rs368593151",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368593151"
                    },
                    {
                        "id": "rs368593151",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs368593151#frequency_tab"
                    },
                    {
                        "id": "rs368593151",
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                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/22522421"
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                ],
                "glycoeffect": [],
                "start_pos": 268,
                "end_pos": 268,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, collaborator primers).",
                "chr_id": "7",
                "chr_pos": "16301454",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R268",
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                            "url": "https://disease-ontology.org/term/DOID:9256",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "name": "malignant colorectal tumor",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "name": "malignant large intestine tumor",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "name": "malignant tumor of large bowel",
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                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                                "name": "malignant tumour of the large intestine",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                    {
                        "disease_id": "DOID:0110295",
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                            "url": "https://disease-ontology.org/term/DOID:0110295",
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                            {
                                "id": "DOID:0110295",
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                            {
                                "id": "DOID:0110295",
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                                "name": "muscular dystrophy limb-girdle type 2U",
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                                "id": "DOID:0110295",
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                                "id": "MONDO:0014474",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014474",
                                "name": "autosomal recessive limb-girdle muscular dystrophy type 2U",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014474",
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                            {
                                "id": "MONDO:0014474",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014474",
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                            {
                                "id": "MONDO:0014474",
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                            {
                                "id": "MONDO:0014474",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014474",
                                "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014474",
                                "resource": "MONDO",
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                                "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7",
                                "description": ""
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                            {
                                "id": "MIM:616052",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/616052",
                                "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C7",
                                "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C7"
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                                "id": "616052",
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                            {
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                            {
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                        "disease_id": "DOID:0111234",
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                                "id": "DOID:0111234",
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                            {
                                "id": "DOID:0111234",
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                            {
                                "id": "MONDO:0013835",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0013835",
                                "name": "ISPD muscular dystrophy-dystroglycanopathy, type A",
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                            {
                                "id": "MONDO:0013835",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013835",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013835",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7",
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                            {
                                "id": "MONDO:0013835",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0013835",
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                                "url": "https://www.omim.org/entry/614643",
                                "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7",
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                            {
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                                "url": "https://www.omim.org/entry/614643"
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                            },
                            {
                                "id": "0111234",
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                "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, collaborator primers.",
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                            {
                                "id": "DOID:0111234",
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                            {
                                "id": "DOID:0111234",
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