Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/FGFR1/variants/?format=api
https://olida.ibsquare.be/api/variants/1973/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1973/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1973/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1973/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1973/?format=api" } }, { "type": "SmallVariant", "id": "2820", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "-", "pp2_hvar_prediction": "-", "cadd_prediction": null, "mutationtaster_prediction": "-" }, "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-05-16T12:02:48.898192", "ref_allele": null, "alt_allele": null, "cdna_change": "c.340-344delTTCTC", "protein_change": "p.Phe114fs13", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1336" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2820/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2820/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2820/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2820/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2820/?format=api" } }, { "type": "SmallVariant", "id": "37", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.701467, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38285504, "genomic_position_hg38": 38427986, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.738120", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.556C>G", "protein_change": "p.Pro186Ala", "transcript_id": "NM_023110.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI019" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/37/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/37/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/37/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/37/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/37/?format=api" } }, { "type": "SmallVariant", "id": "77", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.141403, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38287386, "genomic_position_hg38": 38429868, "chromosome": "8", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:40.980619", "ref_allele": "GCAGCCGA", "alt_allele": "G", "cdna_change": "c.165_171del", "protein_change": "p.Arg56GlyfsTer45", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI036" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/77/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/77/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/77/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/77/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/77/?format=api" } }, { "type": "SmallVariant", "id": "147", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.923684, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38282215, "genomic_position_hg38": 38424697, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.389825", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.748C>T", "protein_change": "p.Arg250Trp", "transcript_id": "NM_023110.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI075" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/147/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/147/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/147/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/147/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/147/?format=api" } }, { "type": "SmallVariant", "id": "379", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 6.144e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0003682, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 7.605e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.912501, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38287208, "genomic_position_hg38": 38429690, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.742644", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.350A>G", "protein_change": "p.Asn117Ser", "transcript_id": "NM_023110.2", "dbsnp_id": "rs780765366", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI195" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/379/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/379/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/379/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/379/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/379/?format=api" } }, { "type": "SmallVariant", "id": "382", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.702588, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38283669, "genomic_position_hg38": 38426151, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.761649", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.716T>C", "protein_change": "p.Ile239Thr", "transcript_id": "NM_023110.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI196" }, { "type": "Combination", "id": "OLI373" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/382/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/382/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/382/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/382/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/382/?format=api" } }, { "type": "SmallVariant", "id": "384", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 4.873538, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38282214, "genomic_position_hg38": 38424696, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.774151", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.749G>A", "protein_change": "p.Arg250Gln", "transcript_id": "NM_023110.2", "dbsnp_id": "rs121909645", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI197" }, { "type": "Combination", "id": "OLI367" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/384/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/384/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/384/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/384/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/384/?format=api" } }, { "type": "SmallVariant", "id": "386", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 7.792479, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38273388, "genomic_position_hg38": 38415870, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.786429", "ref_allele": "C", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Lys618Asn", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI198" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/386/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/386/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/386/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/386/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/386/?format=api" } }, { "type": "SmallVariant", "id": "388", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 1.202e-05, "gnomad_AFR_maf": 0.0001291, "gnomad_AMR_maf": 2.896e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.927332, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38275767, "genomic_position_hg38": 38418249, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.799033", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1409G>T", "protein_change": "p.Arg470Leu", "transcript_id": "NM_023110.2", "dbsnp_id": "rs121909637", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI199" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/388/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/388/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/388/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/388/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/388/?format=api" } }, { "type": "SmallVariant", "id": "398", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 1.201e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.896e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.765e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.571252, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38273432, "genomic_position_hg38": 38415914, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.861844", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Ala604Thr", "transcript_id": null, "dbsnp_id": "rs1412996644", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI204" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/398/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/398/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/398/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/398/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/398/?format=api" } }, { "type": "SmallVariant", "id": "557", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.179836, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 38271766, "genomic_position_hg38": 38414248, "chromosome": "8", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:43.786319", "ref_allele": "CC", "alt_allele": "TT", "cdna_change": "c.2059_2060delGGinsAA", "protein_change": "p.Gly687Asn", "transcript_id": "NM_001174064.2", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI288" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/557/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/557/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/557/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/557/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/557/?format=api" } }, { "type": "SmallVariant", "id": "779", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 7.731416, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38285491, "genomic_position_hg38": 38427973, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.168293", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Trp190Ter", "transcript_id": null, "dbsnp_id": "rs1554567027", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI356" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/779/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/779/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/779/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/779/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/779/?format=api" } }, { "type": "SmallVariant", "id": "801", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.521399, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38279354, "genomic_position_hg38": 38421836, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.290561", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1042G>A", "protein_change": "p.Gly348Arg", "transcript_id": "NM_023110.2", "dbsnp_id": "rs886037634", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI365" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/801/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/801/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/801/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/801/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/801/?format=api" } }, { "type": "SmallVariant", "id": "809", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.572856, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38271781, "genomic_position_hg38": 38414263, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.341538", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.2075A>G", "protein_change": "p.Glu692Gly", "transcript_id": "NM_023110.2", "dbsnp_id": "rs397515445", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI368" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/809/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/809/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/809/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/809/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/809/?format=api" } }, { "type": "SmallVariant", "id": "813", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.663052, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38275493, "genomic_position_hg38": 38417975, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.367006", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1447C>A", "protein_change": "p.Pro483Thr", "transcript_id": "NM_023110.2", "dbsnp_id": "rs397515444", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1392" }, { "type": "Combination", "id": "OLI371" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/813/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/813/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/813/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/813/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/813/?format=api" } }, { "type": "SmallVariant", "id": "814", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.522409, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38272117, "genomic_position_hg38": 38414599, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.373511", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2008G>A", "protein_change": "p.Glu670Lys", "transcript_id": "NM_023110.2", "dbsnp_id": "rs397515446", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI372" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/814/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/814/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/814/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/814/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/814/?format=api" } }, { "type": "SmallVariant", "id": "817", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.281464, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38271691, "genomic_position_hg38": 38414173, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.392808", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.2165C>A", "protein_change": "p.Pro722His", "transcript_id": "NM_023110.2", "dbsnp_id": "rs267606805", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1394" }, { "type": "Combination", "id": "OLI374" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/817/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/817/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/817/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/817/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/817/?format=api" } }, { "type": "SmallVariant", "id": "818", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 4.87689, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38271684, "genomic_position_hg38": 38414166, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.399339", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.2172C>G", "protein_change": "p.Asn724Lys", "transcript_id": "NM_023110.2", "dbsnp_id": "rs267606806", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1394" }, { "type": "Combination", "id": "OLI374" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/818/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/818/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/818/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/818/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/818/?format=api" } }, { "type": "SmallVariant", "id": "820", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.109099, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38283703, "genomic_position_hg38": 38426185, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.412272", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.682T>G", "protein_change": "p.Tyr228Asp", "transcript_id": "NM_023110.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI375" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/820/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/820/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/820/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/820/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/820/?format=api" } }, { "type": "SmallVariant", "id": "844", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.83509, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38279371, "genomic_position_hg38": 38421853, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.554922", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1025T>C", "protein_change": "p.Leu342Ser", "transcript_id": "NM_023110.2", "dbsnp_id": "rs121909638", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI389" }, { "type": "Combination", "id": "OLI408" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/844/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/844/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/844/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/844/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/844/?format=api" } }, { "type": "SmallVariant", "id": "846", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 7.712539, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38272410, "genomic_position_hg38": 38414892, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.561406", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1864C>T", "protein_change": "p.Arg622Ter", "transcript_id": "NM_023110.2", "dbsnp_id": "rs121909628", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI390" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/846/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/846/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/846/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/846/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/846/?format=api" } }, { "type": "SmallVariant", "id": "848", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 6.279698, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38274936, "genomic_position_hg38": 38417418, "chromosome": "8", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:45.574671", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1553-2A>G", "protein_change": null, "transcript_id": "NM_023110.2", "dbsnp_id": "NA", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI391" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/848/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/848/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/848/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/848/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/848/?format=api" } }, { "type": "SmallVariant", "id": "850", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 6.496845, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38273487, "genomic_position_hg38": 38415969, "chromosome": "8", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:45.587648", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1755C>A", "protein_change": "p.Tyr585Ter", "transcript_id": "NM_023110.2", "dbsnp_id": "NA", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI392" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/850/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/850/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/850/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/850/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/850/?format=api" } }, { "type": "SmallVariant", "id": "858", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.507562, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38271313, "genomic_position_hg38": 38413795, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.640146", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.2302G>T", "protein_change": "p.Asp768Tyr", "transcript_id": "NM_023110.2", "dbsnp_id": "rs121909644", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI397" }, { "type": "Combination", "id": "OLI409" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/858/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/858/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/858/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/858/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/858/?format=api" } }, { "type": "SmallVariant", "id": "879", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 6.085701, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38271436, "genomic_position_hg38": 38413918, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.763037", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.2292G>T", "protein_change": "p.Gln764His", "transcript_id": "NM_023110.2", "dbsnp_id": "rs121909643", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI409" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/879/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/879/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/879/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/879/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/879/?format=api" } }, { "type": "SmallVariant", "id": "881", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.968387, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38271495, "genomic_position_hg38": 38413977, "chromosome": "8", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:45.776089", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2233C>T", "protein_change": "p.Pro745Ser", "transcript_id": "NM_023110.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI410" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/881/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/881/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/881/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/881/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/881/?format=api" } }, { "type": "SmallVariant", "id": "899", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.903468, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38287344, "genomic_position_hg38": 38429826, "chromosome": "8", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:45.897170", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.313C>T", "protein_change": "p.Gln105Ter", "transcript_id": "NM_001174067.1", "dbsnp_id": "rs1554570813", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI420" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/899/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/899/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/899/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/899/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/899/?format=api" } }, { "type": "SmallVariant", "id": "901", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.929658, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38271473, "genomic_position_hg38": 38413955, "chromosome": "8", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:45.910116", "ref_allele": "TC", "alt_allele": "T", "cdna_change": "c.2248delG", "protein_change": "p.Glu750LysfsTer9", "transcript_id": "NM_015850.4", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI421" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/901/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/901/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/901/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/901/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/901/?format=api" } }, { "type": "SmallVariant", "id": "972", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.550013, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38282109, "genomic_position_hg38": 38424591, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.345570", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.854C>G", "protein_change": "p.Pro285Arg", "transcript_id": "NM_023110.2", "dbsnp_id": "rs779380483", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI456" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/972/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/972/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/972/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/972/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/972/?format=api" } }, { "type": "SmallVariant", "id": "1156", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 0.0001417, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.221e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0008828, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.787809, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38285926, "genomic_position_hg38": 38428408, "chromosome": "8", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:47.472800", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.119A>C", "protein_change": "p.Asp40Ala", "transcript_id": "NM_023105", "dbsnp_id": "rs765615419", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI554" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1156/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1156/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1156/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1156/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1156/?format=api" } }, { "type": "SmallVariant", "id": "1419", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 7.789059, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38279331, "genomic_position_hg38": 38421813, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.017282", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1065G>A", "protein_change": "p.Trp355Ter", "transcript_id": "NM_023110.2", "dbsnp_id": "NA", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI652" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1419/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1419/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1419/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1419/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1419/?format=api" } }, { "type": "SmallVariant", "id": "1494", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.519106, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38314953, "genomic_position_hg38": 38457435, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.502318", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.12G>T", "protein_change": "p.Trp4Cys", "transcript_id": "NM_023110.2", "dbsnp_id": "rs760884357", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI689" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1494/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1494/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1494/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1494/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1494/?format=api" } }, { "type": "SmallVariant", "id": "1714", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.145137, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38271772, "genomic_position_hg38": 38414254, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.870672", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Thr695Ile", "transcript_id": null, "dbsnp_id": "rs515726225", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI779" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1714/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1714/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1714/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1714/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1714/?format=api" } }, { "type": "SmallVariant", "id": "1824", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 3.69159, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38283677, "genomic_position_hg38": 38426159, "chromosome": "8", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:51.521757", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.702C>G", "protein_change": "p.Tyr234Ter", "transcript_id": "NM_015850.4", "dbsnp_id": "rs373644620", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI833" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1824/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1824/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1824/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1824/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1824/?format=api" } }, { "type": "SmallVariant", "id": "1828", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.62553, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38272296, "genomic_position_hg38": 38414778, "chromosome": "8", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:51.547530", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1704+1G>A", "protein_change": null, "transcript_id": "NM_023106.3", "dbsnp_id": "rs876661334", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI835" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1828/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1828/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1828/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1828/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1828/?format=api" } }, { "type": "SmallVariant", "id": "1846", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.462798, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38273580, "genomic_position_hg38": 38416062, "chromosome": "8", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:51.664547", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.1664-2A>C", "protein_change": null, "transcript_id": "NM_023110.3", "dbsnp_id": "NA", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI844" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1846/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1846/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1846/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1846/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1846/?format=api" } }, { "type": "SmallVariant", "id": "1878", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.88562, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38277193, "genomic_position_hg38": 38419675, "chromosome": "8", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:51.859338", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1136G>A", "protein_change": "p.Gly379Glu", "transcript_id": "NM_001174067.1", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI858" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1878/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1878/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1878/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1878/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1878/?format=api" } }, { "type": "SmallVariant", "id": "1943", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.253067, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38273419, "genomic_position_hg38": 38415901, "chromosome": "8", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:52.276352", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1817C>A", "protein_change": "p.Ala606Asp", "transcript_id": "NM_015850.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI894" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1943/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1943/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1943/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1943/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1943/?format=api" } }, { "type": "SmallVariant", "id": "1963", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.126966, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38287269, "genomic_position_hg38": 38429751, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.399423", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.289G>C", "protein_change": "p.Gly97Arg", "transcript_id": "NM_023110.2", "dbsnp_id": "rs1260404537", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI909" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1963/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1963/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1963/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1963/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1963/?format=api" } }, { "type": "SmallVariant", "id": "2344", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 2.404e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.792e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.531e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.397157, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38275752, "genomic_position_hg38": 38418234, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.703098", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1418G>A", "protein_change": "p.Arg473Glu", "transcript_id": "NM_001174063.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1072" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2344/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2344/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2344/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2344/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2344/?format=api" } }, { "type": "SmallVariant", "id": "2393", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.387423, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 38277216, "genomic_position_hg38": 38419698, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.995674", "ref_allele": "CA", "alt_allele": "A", "cdna_change": "c.1211delT", "protein_change": "p.Leu404ArgfsTer27", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1105" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2393/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2393/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2393/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2393/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2393/?format=api" } }, { "type": "SmallVariant", "id": "2394", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.434123, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38285945, "genomic_position_hg38": 38428427, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.001938", "ref_allele": "GGA", "alt_allele": "G", "cdna_change": "c.464_465delTC", "protein_change": "p.Leu155ProfsTer6", "transcript_id": "NM_001174063.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1106" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2394/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2394/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2394/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2394/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2394/?format=api" } }, { "type": "SmallVariant", "id": "2396", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.313571, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38283643, "genomic_position_hg38": 38426125, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.014379", "ref_allele": "C", "alt_allele": "CG", "cdna_change": "c.834dup", "protein_change": "p.Val279ArgfsTer24", "transcript_id": "NM_001174067.1", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1107" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2396/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2396/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2396/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2396/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2396/?format=api" } }, { "type": "SmallVariant", "id": "2492", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.923684, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38282215, "genomic_position_hg38": 38424697, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.569569", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.841C>T", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1159" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2492/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2492/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2492/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2492/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2492/?format=api" } }, { "type": "SmallVariant", "id": "2497", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.965077, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38282203, "genomic_position_hg38": 38424685, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.600029", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.853C>T", "protein_change": "p.Arg285Trp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1161" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2497/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2497/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2497/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2497/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2497/?format=api" } }, { "type": "SmallVariant", "id": "2672", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 3.999e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.845e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.605514, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38287402, "genomic_position_hg38": 38429884, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.543096", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.156G>C", "protein_change": "p.Gln52His", "transcript_id": "NM_023110.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1267" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2672/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2672/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2672/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2672/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2672/?format=api" } }, { "type": "SmallVariant", "id": "2675", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.231037, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38273413, "genomic_position_hg38": 38415895, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.561894", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1829G>T", "protein_change": "p.Gly610Val", "transcript_id": "NM_023110.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1268" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2675/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2675/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2675/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2675/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2675/?format=api" } }, { "type": "SmallVariant", "id": "2677", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.923684, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38282215, "genomic_position_hg38": 38424697, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.574518", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.748C>T", "protein_change": "p.Arg250Trp", "transcript_id": "NM_023110.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1269" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2677/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2677/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2677/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2677/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2677/?format=api" } }, { "type": "SmallVariant", "id": "2681", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.965077, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38282203, "genomic_position_hg38": 38424685, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.599501", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.760C>T", "protein_change": "p.Arg254Trp", "transcript_id": "NM_023110.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1271" }, { "type": "Combination", "id": "OLI1340" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2681/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2681/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2681/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2681/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2681/?format=api" } }, { "type": "SmallVariant", "id": "2683", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.521399, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38279354, "genomic_position_hg38": 38421836, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.612017", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1042G>A", "protein_change": "p.Gly348Arg", "transcript_id": "NM_023110.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1272" }, { "type": "Combination", "id": "OLI1594" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2683/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2683/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2683/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2683/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2683/?format=api" } }, { "type": "SmallVariant", "id": "2684", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 7.988e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.82e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.27e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.14642, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38271528, "genomic_position_hg38": 38414010, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.618186", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2200C>T", "protein_change": "p.Arg734Trp", "transcript_id": "NM_023110.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1273" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2684/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2684/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2684/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2684/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2684/?format=api" } }, { "type": "SmallVariant", "id": "2687", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 3.573646, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38287386, "genomic_position_hg38": 38429868, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.637138", "ref_allele": "G", "alt_allele": "GCAGCCGA", "cdna_change": "c.165_171dup", "protein_change": "p.Arg58SerfsTer55", "transcript_id": "NM_023110.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1274" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2687/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2687/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2687/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2687/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2687/?format=api" } }, { "type": "SmallVariant", "id": "2707", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 1.462105, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38282075, "genomic_position_hg38": 38424557, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.756311", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.888T>A", "protein_change": "p.Asn296Lys", "transcript_id": "NM_023110.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1285" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2707/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2707/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2707/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2707/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2707/?format=api" } }, { "type": "SmallVariant", "id": "2713", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.381543, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38275808, "genomic_position_hg38": 38418290, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.792696", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1368G>A", "protein_change": "p.Met456Ile", "transcript_id": "NM_023110.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1290" }, { "type": "Combination", "id": "OLI1597" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2713/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2713/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2713/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2713/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2713/?format=api" } }, { "type": "SmallVariant", "id": "2723", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.150628, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38287295, "genomic_position_hg38": 38429777, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.853006", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.263T>G", "protein_change": "p.Val88Gly", "transcript_id": "NM_023110.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1296" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2723/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2723/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2723/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2723/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2723/?format=api" } }, { "type": "SmallVariant", "id": "2732", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.198402, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38285527, "genomic_position_hg38": 38428009, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.907449", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.533G>A", "protein_change": "p.Cys178Tyr", "transcript_id": "NM_023110.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1302" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2732/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2732/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2732/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2732/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2732/?format=api" } }, { "type": "SmallVariant", "id": "2771", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 2.955065, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38283637, "genomic_position_hg38": 38426119, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.143774", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.838+3A>T", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1322" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2771/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2771/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2771/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2771/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2771/?format=api" } }, { "type": "SmallVariant", "id": "2825", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 3.69159, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38283677, "genomic_position_hg38": 38426159, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.466307", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.801C>G", "protein_change": "p.Tyr267Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1338" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2825/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2825/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2825/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2825/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2825/?format=api" } }, { "type": "SmallVariant", "id": "2826", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.279911, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38279453, "genomic_position_hg38": 38421935, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.472448", "ref_allele": "CAG", "alt_allele": "C", "cdna_change": "c.1034_c", "protein_change": "p.Ser345CysfsTer54", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1339" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2826/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2826/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2826/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2826/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2826/?format=api" } }, { "type": "SmallVariant", "id": "2842", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.813601, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38275830, "genomic_position_hg38": 38418312, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.572017", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.1439T>G", "protein_change": "p.Leu480Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1348" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2842/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2842/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2842/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2842/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2842/?format=api" } }, { "type": "SmallVariant", "id": "2844", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.225572, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 38287419, "genomic_position_hg38": 38429901, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.584675", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.238C>T", "protein_change": "p.Arg80Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1349" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2844/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2844/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2844/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2844/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2844/?format=api" } }, { "type": "SmallVariant", "id": "2846", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.513136, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38287416, "genomic_position_hg38": 38429898, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.597255", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.142G>A", "protein_change": "p.Gly48Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1350" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2846/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2846/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2846/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2846/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2846/?format=api" } }, { "type": "SmallVariant", "id": "2853", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.235604, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 38318679, "genomic_position_hg38": 38461161, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.641373", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.-55A>G", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1356" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2853/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2853/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2853/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2853/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2853/?format=api" } }, { "type": "SmallVariant", "id": "2854", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 0.000333, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002325, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.003343, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.804e-05, "gnomad_OTH_maf": 0.0004983, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.529959, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 38272449, "genomic_position_hg38": 38414931, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.647665", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1825-30G>A", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1356" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2854/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2854/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2854/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2854/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2854/?format=api" } }, { "type": "SmallVariant", "id": "2883", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": null, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38279450, "genomic_position_hg38": 38421932, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.807543", "ref_allele": "ACT", "alt_allele": "A", "cdna_change": "c.1037_1038delCT", "protein_change": "p.Ser346TyrfsTer61", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1376" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2883/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2883/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2883/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2883/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2883/?format=api" } }, { "type": "SmallVariant", "id": "2891", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": null, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38272358, "genomic_position_hg38": 38414840, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.855937", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1916T>C", "protein_change": "p.Ile639Thr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1380" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2891/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2891/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2891/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2891/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2891/?format=api" } }, { "type": "SmallVariant", "id": "2893", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": null, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38277056, "genomic_position_hg38": 38419538, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.867873", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1279G>T", "protein_change": "p.Val427Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1381" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2893/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2893/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2893/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2893/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2893/?format=api" } }, { "type": "SmallVariant", "id": "2895", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.76544, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38273433, "genomic_position_hg38": 38415915, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.879840", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1809C>A", "protein_change": "p.Cys603Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1382" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2895/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2895/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2895/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2895/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2895/?format=api" } }, { "type": "SmallVariant", "id": "2924", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 1.223e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.835e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.619e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.508779, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38285938, "genomic_position_hg38": 38428420, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.055453", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.374C>T", "protein_change": "p.Ser125Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1393" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2924/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2924/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2924/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2924/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2924/?format=api" } }, { "type": "SmallVariant", "id": "2931", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": null, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38271749, "genomic_position_hg38": 38414231, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.097947", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.2107G>C", "protein_change": "p.Gly703Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1396" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2931/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2931/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2931/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2931/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2931/?format=api" } }, { "type": "SmallVariant", "id": "2935", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 6.162193, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38275893, "genomic_position_hg38": 38418375, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.122395", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1285-2A>G", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1399" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2935/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2935/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2935/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2935/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2935/?format=api" } }, { "type": "SmallVariant", "id": "2943", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0004199, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0004676, "gnomad_ASJ_maf": 0.001204, "gnomad_EAS_maf": 0.002712, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001917, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001143, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.655423, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 38287254, "genomic_position_hg38": 38429736, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.170817", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.304G>A", "protein_change": "p.Val102Ile", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1402" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2943/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2943/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2943/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2943/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2943/?format=api" } }, { "type": "SmallVariant", "id": "2946", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 7.747735, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38273388, "genomic_position_hg38": 38415870, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.188915", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1854G>T", "protein_change": "p.Lys618Asn", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1403" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2946/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2946/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2946/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2946/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2946/?format=api" } }, { "type": "SmallVariant", "id": "2959", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.235437, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38279380, "genomic_position_hg38": 38421862, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.268096", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1016A>G", "protein_change": "p.Tyr339Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1408" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2959/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2959/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2959/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2959/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2959/?format=api" } }, { "type": "SmallVariant", "id": "2964", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 5.517e-05, "gnomad_AFR_maf": 0.0004683, "gnomad_AMR_maf": 6.295e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.984e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.089e-05, "gnomad_OTH_maf": 0.0001844, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.873192, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 41725302, "genomic_position_hg38": 41219397, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.298388", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.5C>T", "protein_change": "p.Ala2Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1410" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2964/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2964/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2964/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2964/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2964/?format=api" } }, { "type": "SmallVariant", "id": "2971", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.96919, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38283675, "genomic_position_hg38": 38426157, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.341166", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.710G>A", "protein_change": "p.Gly237Asp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1413" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2971/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2971/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2971/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2971/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2971/?format=api" } }, { "type": "SmallVariant", "id": "2984", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.964257, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38277238, "genomic_position_hg38": 38419720, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.422962", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1097C>T", "protein_change": "p.Pro366Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1419" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2984/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2984/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2984/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2984/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2984/?format=api" } }, { "type": "SmallVariant", "id": "2990", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.912979, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38271487, "genomic_position_hg38": 38413969, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.459655", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.2241C>A", "protein_change": "p.Phe747Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1423" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2990/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2990/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2990/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2990/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2990/?format=api" } }, { "type": "SmallVariant", "id": "2991", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.377548, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38271313, "genomic_position_hg38": 38413795, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.465693", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.2302G>C", "protein_change": "p.Asp768His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1423" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2991/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2991/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2991/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2991/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2991/?format=api" } }, { "type": "SmallVariant", "id": "3006", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.436536, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38282199, "genomic_position_hg38": 38424681, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.556384", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.764C>T", "protein_change": "p.Pro255Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1428" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3006/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3006/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3006/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3006/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3006/?format=api" } }, { "type": "SmallVariant", "id": "3008", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.060168, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38274845, "genomic_position_hg38": 38417327, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.568391", "ref_allele": "GCAGGTTGA", "alt_allele": "G", "cdna_change": "c.1727_1734del", "protein_change": "p.Arg576ProfsTer77", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1429" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3008/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3008/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3008/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3008/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3008/?format=api" } }, { "type": "SmallVariant", "id": "3011", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.186801, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38271799, "genomic_position_hg38": 38414281, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.586668", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.2057T>C", "protein_change": "p.Phe686Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1430" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3011/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3011/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3011/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3011/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3011/?format=api" } }, { "type": "SmallVariant", "id": "3191", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 1.64e-05, "gnomad_AFR_maf": 0.0001317, "gnomad_AMR_maf": 5.86e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.363534, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 38287446, "genomic_position_hg38": 38429928, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.625907", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.211G>A", "protein_change": "p.Val71Met", "transcript_id": "NM_001174067", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1521" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3191/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3191/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3191/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3191/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3191/?format=api" } }, { "type": "SmallVariant", "id": "3278", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.627957, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38272407, "genomic_position_hg38": 38414889, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.155874", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1960G>T", "protein_change": "p.Asp654Tyr", "transcript_id": "NM_001174067", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1559" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3278/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3278/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3278/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3278/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3278/?format=api" } }, { "type": "SmallVariant", "id": "3293", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 6.01e-05, "gnomad_AFR_maf": 6.457e-05, "gnomad_AMR_maf": 8.689e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.827e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.505356, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38285494, "genomic_position_hg38": 38427976, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.247032", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.659G>A", "protein_change": "p.Arg220His", "transcript_id": "NM_001174067", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1564" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3293/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3293/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3293/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3293/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3293/?format=api" } }, { "type": "SmallVariant", "id": "3361", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.437927, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38287326, "genomic_position_hg38": 38429808, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.660255", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.232C>T", "protein_change": "p.Arg78Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1592" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3361/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3361/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3361/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3361/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3361/?format=api" } }, { "type": "SmallVariant", "id": "3362", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": null, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38275746, "genomic_position_hg38": 38418228, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.666632", "ref_allele": "CC", "alt_allele": "C", "cdna_change": "c.1430+1delG", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1593" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3362/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3362/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3362/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3362/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3362/?format=api" } }, { "type": "SmallVariant", "id": "3372", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 6.026019, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38272313, "genomic_position_hg38": 38414795, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.729525", "ref_allele": "T", "alt_allele": "TT", "cdna_change": "c.1961dupA", "protein_change": "p.Tyr654Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1598" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3372/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3372/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3372/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3372/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3372/?format=api" } }, { "type": "SmallVariant", "id": "3378", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.753739, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38283764, "genomic_position_hg38": 38426246, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.766349", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.622-1G>T", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1601" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3378/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3378/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3378/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3378/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3378/?format=api" } }, { "type": "SmallVariant", "id": "3380", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.7403, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38277240, "genomic_position_hg38": 38419722, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.778302", "ref_allele": "C", "alt_allele": "CCT", "cdna_change": "c.1093_1094dupAG", "protein_change": "p.Pro366fs", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1603" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3380/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3380/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3380/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3380/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3380/?format=api" } }, { "type": "SmallVariant", "id": "3385", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.971435, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38274906, "genomic_position_hg38": 38417388, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.808597", "ref_allele": "G", "alt_allele": "GTC", "cdna_change": "c.1306_1307dupTC", "protein_change": "p.Met437fs", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1606" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3385/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3385/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3385/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3385/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3385/?format=api" } } ], "meta": { "database_name": "OLIgogenic diseases DAtabase (OLIDA)", "resource_url": "olida.ibsquare.be", "api_release_year": "2021", "api_developer": [ [ "Arnau Dillen", "arnau.dillen@ulb.ac.be" ], [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_version": "0.3", "api_maintainers": [ [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_documentation": [ "olida.ibsquare.be/api/swagger", "olida.ibsquare.be/api/redoc" ], "copyright": "Copyright (c) 2025 · OLIDA All Rights Reserved.", "license": "CC Attribution-NonCommercial 4.0 International License", "ontologies": { "ORDO": "http://bioportal.bioontology.org/ontologies/ORDO", "GENO": "http://purl.obolibrary.org/obo/geno.owl", "MI": "http://purl.obolibrary.org/obo/mi.owl", "NCIT": "http://purl.obolibrary.org/obo/ncit.owl", "OGI": "http://purl.obolibrary.org/obo/ogi.owl", "OGG": "http://purl.obolibrary.org/obo/ogg.owl" }, "relevant_publications_doi": [ "10.1093/nar/gkv1068", "10.1093/database/baac023" ], "Variant serializers": [ "SmallVariantSerializer", "CopyNumberVariantSerializer" ], "size": 92 } }{ "data": [ { "type": "SmallVariant", "id": "1973", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": null, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "8", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:01:22.351932", "ref_allele": null, "alt_allele": null, "cdna_change": "r.spl_site3", "protein_change": null, "transcript_id": "NM_015850.3", "dbsnp_id": "NA", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI915" } ], "links": { "self": "