{ "batchid": 1, "recordid": "P16112-1", "recordtype": "protein", "sections": { "snv": [ { "evidence": [ { "id": "rs1324649266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324649266" }, { "id": "rs1324649266", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1324649266#frequency_tab" }, { "id": "rs1324649266", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324649266" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 30, "end_pos": 30, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 3 filters: n-glyco-sequon-gain (SVS->NVS); o-glyco-site-loss (S->N); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88838681", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S30", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1896779224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1896779224" }, { "id": "rs1896779224", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1896779224#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 436, "end_pos": 436, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 3 filters: n-glyco-sequon-loss (NET->NEI); o-glyco-site-loss (T->I); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88845760", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T436", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1896577084", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1896577084" }, { "id": "rs1896577084", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1896577084#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 105, "end_pos": 105, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->L); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88838906", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373544100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373544100" }, { "id": "rs373544100", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373544100" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1080, "end_pos": 1080, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88855823", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1080", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780095199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780095199" }, { "id": "rs780095199", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780095199" }, { "id": "rs780095199", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780095199#frequency_tab" }, { "id": "rs780095199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780095199" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 126, "end_pos": 126, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NDS->HDS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88838968", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N126", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1477811556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1477811556" }, { "id": "rs1477811556", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1477811556" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 126, "end_pos": 126, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NDS->SDS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88838969", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N126", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780095199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780095199" }, { "id": "rs780095199", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780095199" }, { "id": "rs780095199", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780095199#frequency_tab" }, { "id": "rs780095199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780095199" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 126, "end_pos": 126, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NDS->YDS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88838968", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N126", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1403191177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1403191177" }, { "id": "rs1403191177", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1403191177" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 128, "end_pos": 128, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NDS->NDF); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88838975", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S128", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2141564162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141564162" }, { "id": "rs2141564162", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2141564162" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 128, "end_pos": 128, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NDS->NDP); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88838974", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S128", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1897050276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1897050276" }, { "id": "rs1897050276", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1897050276" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1383, "end_pos": 1383, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856733", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1383", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1268162032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1268162032" }, { "id": "rs1268162032", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1268162032" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1390, "end_pos": 1390, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DIS->NIS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856753", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1390", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs534608385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534608385" }, { "id": "rs534608385", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534608385" }, { "id": "rs534608385", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534608385" }, { "id": "rs534608385", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs534608385" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1461, "end_pos": 1461, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856966", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1461", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375536994", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375536994" }, { "id": "rs375536994", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375536994" }, { "id": "rs375536994", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375536994#frequency_tab" }, { "id": "rs375536994", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375536994" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1461, "end_pos": 1461, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->N); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856967", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1461", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs534608385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534608385" }, { "id": "rs534608385", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs534608385" }, { "id": "rs534608385", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs534608385" }, { "id": "rs534608385", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs534608385" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1461, "end_pos": 1461, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->P); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856966", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1461", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1247591202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1247591202" }, { "id": "rs1247591202", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1247591202#frequency_tab" }, { "id": "rs1247591202", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1247591202" }, { "id": "rs1247591202", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1247591202" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1466, "end_pos": 1466, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (DLS->NLS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856981", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1466", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs561163011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561163011" }, { "id": "rs561163011", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs561163011" }, { "id": "rs561163011", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561163011" }, { "id": "rs561163011", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs561163011" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1486, "end_pos": 1486, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DIS->NIS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88857041", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D1486", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761198297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761198297" }, { "id": "rs761198297", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761198297" }, { "id": "rs761198297", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761198297" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1524, "end_pos": 1524, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DLS->NLS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88857155", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1524", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1019269575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1019269575" }, { "id": "rs1019269575", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1019269575" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1530, "end_pos": 1530, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->Y); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88857174", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1530", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765334806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765334806" }, { "id": "rs765334806", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765334806" }, { "id": "rs765334806", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765334806#frequency_tab" }, { "id": "rs765334806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765334806" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1567, "end_pos": 1567, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->G); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88857284", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1567", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1469339475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469339475" }, { "id": "rs1469339475", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1469339475#frequency_tab" }, { "id": "rs1469339475", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469339475" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1585, "end_pos": 1585, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DLS->NLS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88857338", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1585", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780109464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780109464" }, { "id": "rs780109464", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780109464" }, { "id": "rs780109464", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780109464#frequency_tab" }, { "id": "rs780109464", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780109464" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1587, "end_pos": 1587, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->R); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88857346", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1587", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs28407189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28407189" }, { "id": "rs28407189", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28407189" }, { "id": "rs28407189", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28407189" }, { "id": "rs28407189", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs28407189#frequency_tab" }, { "id": "rs28407189", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs28407189" }, { "id": "rs28407189", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs28407189" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1622, "end_pos": 1622, "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88857449", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1622", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1897081930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1897081930" }, { "id": "rs1897081930", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1897081930#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1623, "end_pos": 1623, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->G); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88857452", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1623", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373469771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373469771" }, { "id": "rs373469771", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373469771" }, { "id": "rs373469771", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373469771#frequency_tab" }, { "id": "rs373469771", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373469771" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1623, "end_pos": 1623, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->N); 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glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88857606", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1674", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372919059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372919059" }, { "id": "rs372919059", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372919059" }, { "id": "rs372919059", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372919059#frequency_tab" }, { "id": "rs372919059", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372919059" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1693, "end_pos": 1693, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->Y); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88857663", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1693", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780589006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780589006" }, { "id": "rs780589006", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780589006" }, { "id": "rs780589006", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780589006" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1703, "end_pos": 1703, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->G); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88857692", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1703", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1165463039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1165463039" }, { "id": "rs1165463039", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1165463039#frequency_tab" }, { "id": "rs1165463039", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1165463039" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1724, "end_pos": 1724, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DVS->NVS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88857755", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1724", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1239958387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1239958387" }, { "id": "rs1239958387", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1239958387#frequency_tab" }, { "id": "rs1239958387", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1239958387" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1744, "end_pos": 1744, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DTS->NTS); 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"Somatic mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858383", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1933", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1178236790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178236790" }, { "id": "rs1178236790", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1178236790#frequency_tab" }, { "id": "rs1178236790", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178236790" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1933, "end_pos": 1933, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->P); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858382", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1933", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1458260468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1458260468" }, { "id": "rs1458260468", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1458260468#frequency_tab" }, { "id": "rs1458260468", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1458260468" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1946, "end_pos": 1946, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858422", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1946", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1307178205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307178205" }, { "id": "rs1307178205", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1307178205" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1950, "end_pos": 1950, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858433", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1950", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763076469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763076469" }, { "id": "rs763076469", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763076469" }, { "id": "rs763076469", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763076469#frequency_tab" }, { "id": "rs763076469", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763076469" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1950, "end_pos": 1950, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858434", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1950", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763076469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763076469" }, { "id": "rs763076469", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763076469" }, { "id": "rs763076469", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763076469#frequency_tab" }, { "id": "rs763076469", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763076469" }, { "id": "rs763076469", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs763076469" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1950, "end_pos": 1950, "sequence_org": "T", "sequence_mut": "K", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->K); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858434", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1950", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs763076469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763076469" }, { "id": "rs763076469", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763076469" }, { "id": "rs763076469", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763076469#frequency_tab" }, { "id": "rs763076469", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763076469" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1950, "end_pos": 1950, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->R); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858434", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1950", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1479852773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1479852773" }, { "id": "rs1479852773", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1479852773#frequency_tab" }, { "id": "rs1479852773", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1479852773" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1969, "end_pos": 1969, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->A); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858490", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1969", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs781707379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781707379" }, { "id": "rs781707379", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781707379" }, { "id": "rs781707379", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781707379#frequency_tab" }, { "id": "rs781707379", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781707379" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 2003, "end_pos": 2003, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: 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lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858623", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N2013", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372805764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372805764" }, { "id": "rs372805764", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372805764" }, { "id": "rs372805764", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372805764#frequency_tab" }, { "id": "rs372805764", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372805764" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 2013, "end_pos": 2013, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NVS->TVS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858623", "ref_nt": "C", 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"comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858833", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2083", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs375589819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375589819" }, { "id": "rs375589819", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375589819" }, { "id": "rs375589819", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375589819#frequency_tab" }, { "id": "rs375589819", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375589819" }, { "id": "rs375589819", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs375589819" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2103, "end_pos": 2103, "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->M); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858893", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2103", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1364382521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1364382521" }, { "id": "rs1364382521", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1364382521#frequency_tab" }, { "id": "rs1364382521", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1364382521" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2103, "end_pos": 2103, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->P); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858892", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1177248665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1177248665" }, { "id": "rs1177248665", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1177248665#frequency_tab" }, { "id": "rs1177248665", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1177248665" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2124, "end_pos": 2124, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->A); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858955", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1177248665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1177248665" }, { "id": "rs1177248665", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1177248665#frequency_tab" }, { "id": "rs1177248665", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1177248665" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2124, "end_pos": 2124, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->P); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858955", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs983617222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs983617222" }, { "id": "rs983617222", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs983617222#frequency_tab" }, { "id": "rs983617222", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs983617222" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 2130, "end_pos": 2130, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SET->NET); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858974", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2130", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2141612632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141612632" }, { "id": "rs2141612632", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2141612632" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2134, "end_pos": 2134, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->Y); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88858986", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2134", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1226384388", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226384388" }, { "id": "rs1226384388", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1226384388#frequency_tab" }, { "id": "rs1226384388", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226384388" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2144, "end_pos": 2144, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->C); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88859016", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2144", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1897136821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1897136821" }, { "id": "rs1897136821", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1897136821" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 2172, "end_pos": 2172, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (TTT->NTT); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88859100", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2172", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1334007352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1334007352" }, { "id": "rs1334007352", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1334007352#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 2173, "end_pos": 2173, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (TTS->NTS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88859103", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773358643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773358643" }, { "id": "rs773358643", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773358643" }, { "id": "rs773358643", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773358643#frequency_tab" }, { "id": "rs773358643", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773358643" }, { "id": "rs773358643", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs773358643" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2190, "end_pos": 2190, "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 2 filters: o-glyco-site-loss (T->M); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88859154", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2190", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1249700502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1249700502" }, { "id": "rs1249700502", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1249700502" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2196, "end_pos": 2196, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->N); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88859172", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2196", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745458647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745458647" }, { "id": "rs745458647", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745458647" }, { "id": "rs745458647", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745458647#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2201, "end_pos": 2201, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DLS->NLS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88859186", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D2201", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773591919", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773591919" }, { "id": "rs773591919", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773591919" }, { "id": "rs773591919", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773591919#frequency_tab" }, { "id": "rs773591919", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773591919" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2214, "end_pos": 2214, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->G); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88859225", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2214", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372580346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372580346" }, { "id": "rs372580346", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372580346" }, { "id": "rs372580346", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372580346#frequency_tab" }, { "id": "rs372580346", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372580346" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2239, "end_pos": 2239, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->L); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88859301", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2239", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1364392889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1364392889" }, { "id": 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"sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88859357", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2258", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754614021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754614021" }, { "id": "rs754614021", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754614021" }, { "id": "rs754614021", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754614021#frequency_tab" }, { "id": "rs754614021", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754614021" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2258, "end_pos": 2258, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->K); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88859358", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T2258", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596156382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596156382" }, { "id": "rs1596156382", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596156382" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2327, "end_pos": 2327, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NKY->NKS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88871415", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y2327", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757955838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757955838" }, { "id": "rs757955838", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757955838" }, { "id": "rs757955838", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757955838#frequency_tab" }, { "id": "rs757955838", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757955838" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 239, "end_pos": 239, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NET->SET); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88841826", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N239", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757955838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757955838" }, { "id": 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"https://www.ncbi.nlm.nih.gov/snp/rs1331939754#frequency_tab" }, { "id": "rs1331939754", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1331939754" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 2410, "end_pos": 2410, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NFF->NFS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88872921", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F2410", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757798845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757798845" }, { "id": "rs757798845", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757798845" }, { "id": "rs757798845", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757798845" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 241, "end_pos": 241, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NET->NEN); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88841832", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T241", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2141576857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141576857" }, { "id": "rs2141576857", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2141576857" }, { "id": "rs2141576857", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2141576857" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 304, "end_pos": 304, "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (DRS->NRS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88843507", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D304", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs751144925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751144925" }, { "id": "rs751144925", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751144925" }, { "id": "rs751144925", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751144925" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 30, "end_pos": 30, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->R); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88838682", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S30", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1044441746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1044441746" }, { "id": "rs1044441746", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1044441746#frequency_tab" }, { "id": "rs1044441746", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1044441746" }, { "id": "rs1044441746", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1044441746" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 319, "end_pos": 319, "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (NCG->NCS); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88843552", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G319", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs776721559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776721559" }, { "id": "rs776721559", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776721559" }, { "id": "rs776721559", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs776721559#frequency_tab" }, { "id": "rs776721559", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776721559" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 333, "end_pos": 333, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NQT->SQT); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88843595", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P16112", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P16112" }, { "id": "rs370865297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370865297" }, { "id": "rs370865297", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370865297" }, { "id": "rs370865297", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370865297#frequency_tab" }, { "id": "rs370865297", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370865297" }, { "id": "rs370865297", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs370865297" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 335, "end_pos": 335, "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 2 out of 6 filters: num. of cancers (4); n-glyco-sequon-loss (NQT->NQM).", "chr_id": "15", "chr_pos": "88843601", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T335", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", 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"database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596136706" }, { "id": "rs1596136706", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596136706" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 371, "end_pos": 371, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->P); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88845564", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T371", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773517396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773517396" }, { "id": "rs773517396", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773517396" }, { "id": "rs773517396", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773517396#frequency_tab" }, { "id": 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"http://gnomad.broadinstitute.org/awesome?query=rs773517396" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 374, "end_pos": 374, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->R); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88845574", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T374", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596136739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596136739" }, { "id": "rs1596136739", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596136739" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 376, "end_pos": 376, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->P); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88845579", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T376", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773211569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773211569" }, { "id": "rs773211569", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773211569" }, { "id": "rs773211569", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773211569#frequency_tab" }, { "id": "rs773211569", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773211569" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 408, "end_pos": 408, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (S->C); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88845676", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S408", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2505263174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2505263174" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 440, "end_pos": 440, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88845772", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T440", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596136979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596136979" }, { "id": "rs1596136979", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596136979" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 440, "end_pos": 440, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->P); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88845771", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T440", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1324712408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324712408" }, { "id": "rs1324712408", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324712408" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 447, "end_pos": 447, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88845792", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T447", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs764796784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764796784" }, { "id": "rs764796784", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764796784" }, { "id": "rs764796784", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764796784" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 447, "end_pos": 447, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88845793", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T447", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1215608729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215608729" }, { "id": "rs1215608729", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1215608729" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 531, "end_pos": 531, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DQT->NQT); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88847404", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D531", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2505284472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2505284472" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 602, "end_pos": 602, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NAT->HAT); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88849509", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N602", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765671060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765671060" }, { "id": "rs765671060", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765671060" }, { "id": "rs765671060", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765671060#frequency_tab" }, { "id": "rs765671060", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765671060" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 602, "end_pos": 602, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NAT->KAT); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88849511", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N602", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1896879096", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1896879096" }, { "id": "rs1896879096", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1896879096#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 602, "end_pos": 602, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NAT->SAT); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88849510", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N602", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1896879709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1896879709" }, { "id": "rs1896879709", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1896879709" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 604, "end_pos": 604, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NAT->NAA); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88849515", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T604", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758736365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758736365" }, { "id": "rs758736365", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758736365" }, { "id": "rs758736365", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758736365#frequency_tab" }, { "id": "rs758736365", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758736365" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 604, "end_pos": 604, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NAT->NAK); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88849516", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T604", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758736365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758736365" }, { "id": "rs758736365", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758736365" }, { "id": "rs758736365", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758736365#frequency_tab" }, { "id": "rs758736365", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs758736365" }, { "id": "rs758736365", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758736365" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 604, "end_pos": 604, "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-loss (NAT->NAM); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "NC_000015.10", "chr_pos": "88849516", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "0.00001702", "site_lbl": "T604", "keywords": [ "ebi", "somatic", "germline" ] }, { "evidence": [ { "id": "rs1310094175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1310094175" }, { "id": "rs1310094175", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1310094175#frequency_tab" }, { "id": "rs1310094175", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1310094175" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 620, "end_pos": 620, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DKC->NKC); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88849563", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D620", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596140282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596140282" }, { "id": "rs1596140282", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596140282" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 636, "end_pos": 636, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (IVT->NVT); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88849612", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I636", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370283261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370283261" }, { "id": "rs370283261", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370283261" }, { "id": "rs370283261", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370283261#frequency_tab" }, { "id": "rs370283261", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370283261" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 658, "end_pos": 658, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NQT->SQT); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88849678", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N658", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1450868991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1450868991" }, { "id": "rs1450868991", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1450868991" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 660, "end_pos": 660, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NQT->NQA); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88849683", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T660", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2505295110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2505295110" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 703, "end_pos": 703, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88851875", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T703", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752367506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752367506" }, { "id": "rs752367506", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752367506" }, { "id": "rs752367506", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752367506" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 738, "end_pos": 738, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NQT->SQT); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88851980", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N738", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752367506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752367506" }, { "id": "rs752367506", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752367506" }, { "id": "rs752367506", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752367506" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 738, "end_pos": 738, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NQT->TQT); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88851980", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N738", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758104180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758104180" }, { "id": "rs758104180", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758104180" }, { "id": "rs758104180", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758104180#frequency_tab" }, { "id": "rs758104180", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758104180" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 905, "end_pos": 905, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->I); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88855299", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T905", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1441891061", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1441891061" }, { "id": "rs1441891061", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1441891061#frequency_tab" }, { "id": "rs1441891061", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1441891061" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 933, "end_pos": 933, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: o-glyco-site-loss (T->A); glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88855382", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T933", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2141604355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141604355" } ], "glycoeffect": [], "start_pos": 1000, "end_pos": 1000, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88855584", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1000", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1897038659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1897038659" }, { "id": "rs1897038659", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1897038659" } ], "glycoeffect": [], "start_pos": 1000, "end_pos": 1000, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88855583", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1000", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2141604355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141604355" }, { "id": "rs2141604355", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2141604355" } ], "glycoeffect": [], "start_pos": 1000, "end_pos": 1000, "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88855584", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V1000", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1270044214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1270044214" }, { "id": "rs1270044214", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1270044214" } ], "glycoeffect": [], "start_pos": 1002, "end_pos": 1002, "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88855589", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E1002", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2505313511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2505313511" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1003, "end_pos": 1003, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs760009352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760009352" } ], "glycoeffect": [], "start_pos": 116, "end_pos": 116, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88838938", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A116", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P16112", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P16112" }, { "id": "rs760009352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760009352" }, { "id": "rs760009352", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760009352" }, { "id": "rs760009352", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760009352#frequency_tab" }, { "id": "rs760009352", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760009352" }, { "id": "rs760009352", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs760009352" } ], "glycoeffect": [], "start_pos": 116, "end_pos": 116, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "15", "chr_pos": "88838938", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A116", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": 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"hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:0081452", "DOID:706", "DOID:1039", "DOID:5604", "DOID:6536", "DOID:0080638", "DOID:7757", "DOID:0050743", "DOID:4960", "DOID:8527", "DOID:1036", "DOID:5772" ], "evidence": [ { "id": "2531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2531" } ] }, { "disease_id": "DOID:84", "recommended_name": { "id": "DOID:84", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:84", "name": "osteochondritis dissecans", "description": "An ischemic bone disease that results_in necrosis located_in epiphysis." }, "synonyms": [ { "id": "DOID:84", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:84", "name": "OCD", "description": "" }, { "id": "MONDO:0100462", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100462", "name": "short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans", "description": "A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." }, { "id": "MONDO:0100462", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100462", "name": "OD", "description": "" }, { "id": "MONDO:0100462", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100462", "name": "SSOAOD", "description": "" }, { "id": "MONDO:0100462", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100462", "name": "osteochondritis dissecans and short stature", "description": "" }, { "id": "MONDO:0100462", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100462", "name": "osteochondritis dissecans, short stature, and early-onset osteoarthritis", "description": "" }, { "id": "MIM:165800", "resource": "MIM", "url": "https://www.omim.org/entry/165800", "name": "Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans", "description": "Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans" } ], "unlinked_id_list": [], "evidence": [ { "id": "165800", "database": "MIM", "url": "https://www.omim.org/entry/165800" } ] }, { "disease_id": "DOID:0112282", "recommended_name": { "id": "DOID:0112282", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112282", "name": "spondyloepiphyseal dysplasia Kimberley type", "description": "A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1." }, "synonyms": [ { "id": "DOID:0112282", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112282", "name": "SEDK", "description": "" }, { "id": "MONDO:0012019", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012019", "name": "spondyloepiphyseal dysplasia, Kimberley type", "description": "A spondyloepiphyseal dysplasia caused by a single allele variation in ACAN gene, characterized by short stature and premature degenerative arthropathy." }, { "id": "MONDO:0012019", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012019", "name": "spondyloepiphyseal dysplasia, Kimberley type", "description": "" }, { "id": "MONDO:0012019", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012019", "name": "SEDK", "description": "" }, { "id": "MIM:608361", "resource": "MIM", "url": "https://www.omim.org/entry/608361", "name": "Spondyloepiphyseal dysplasia type Kimberley", "description": "Spondyloepiphyseal dysplasia type Kimberley" } ], "unlinked_id_list": [], "evidence": [ { "id": "608361", "database": "MIM", "url": "https://www.omim.org/entry/608361" }, { "id": "0112282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112282" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1248248399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1248248399" }, { "id": "rs1248248399", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1248248399" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1403, "end_pos": 1403, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856793", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1403", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs12899191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12899191" }, { "id": "rs12899191", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs12899191" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1403, "end_pos": 1403, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856792", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1403", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs12899191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs12899191" }, { "id": "rs12899191", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs12899191" }, { "id": "rs12899191", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs12899191" } ], "glycoeffect": [], "start_pos": 1403, "end_pos": 1403, "sequence_org": "T", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856792", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1403", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs886640161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886640161" }, { "id": "rs886640161", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs886640161" } ], "glycoeffect": [], "start_pos": 1404, "end_pos": 1404, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856795", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1404", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs886640161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886640161" }, { "id": "rs886640161", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs886640161" } ], "glycoeffect": [], "start_pos": 1404, "end_pos": 1404, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856795", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1404", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P16112", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P16112" } ], "glycoeffect": [], "start_pos": 1404, "end_pos": 1404, "subjects_tested": "4177", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "15", "chr_pos": "88856796", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1404", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", 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cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1386759412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1386759412" }, { "id": "rs1386759412", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1386759412" } ], "glycoeffect": [], "start_pos": 1405, "end_pos": 1405, "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856799", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1405", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P16112", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P16112" } ], "glycoeffect": [], "start_pos": 1405, "end_pos": 1405, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "15", "chr_pos": "88856799", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P1405", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs879116073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs879116073" }, { "id": "rs879116073", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs879116073" } ], "glycoeffect": [], "start_pos": 1405, "end_pos": 1405, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856798", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1405", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P16112", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P16112" } ], "glycoeffect": [], "start_pos": 1405, "end_pos": 1405, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "15", "chr_pos": "88856798", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1405", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", 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"MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1897059964", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1897059964" }, { "id": "rs1897059964", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1897059964" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1441, "end_pos": 1441, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856907", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1441", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200437529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200437529" }, { "id": "rs200437529", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200437529" }, { "id": "rs200437529", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200437529" } ], "glycoeffect": [], "start_pos": 1441, "end_pos": 1441, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856906", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1441", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1384365231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384365231" }, { "id": "rs1384365231", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1384365231" }, { "id": "rs1384365231", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1384365231" } ], "glycoeffect": [], "start_pos": 1442, "end_pos": 1442, "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856909", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1442", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1387358007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1387358007" }, { "id": "rs1387358007", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1387358007" }, { "id": "rs1387358007", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1387358007" } ], "glycoeffect": [], "start_pos": 1442, "end_pos": 1442, "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "15", "chr_pos": "88856910", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1442", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P16112", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P16112" } ], "glycoeffect": [], "start_pos": 1443, "end_pos": 1443, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "15", "chr_pos": "88856913", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1443", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P16112", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P16112" } ], "glycoeffect": [], "start_pos": 1470, "end_pos": 1470, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "15", "chr_pos": "88856993", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L1470", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", 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