### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BUB1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "BUB1" "BUB1 mitotic checkpoint serine/threonine kinase" "2" "q13" "unknown" "NC_000002.11" "UD_132085344881" "" "https://www.LOVD.nl/BUB1" "" "1" "1148" "699" "602452" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/BUB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-01-14 15:18:55" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00003559" "BUB1" "budding uninhibited by benzimidazoles 1 homolog (yeast)" "001" "NM_004336.3" "" "NP_004327.1" "" "" "" "-112" "3390" "3258" "111435684" "111395409" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00090462" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090463" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090464" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090465" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090466" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090467" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090468" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090469" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090470" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090471" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090472" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090473" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090474" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090475" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090476" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090477" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090478" "" "" "" "10" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090479" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090480" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090481" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090482" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00386233" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-197, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-442" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00090462" "00091" "00090463" "00091" "00090464" "00000" "00090465" "00091" "00090466" "00091" "00090467" "00091" "00090468" "00091" "00090469" "00091" "00090470" "00091" "00090471" "00091" "00090472" "00091" "00090473" "00091" "00090474" "00091" "00090475" "00091" "00090476" "00091" "00090477" "00000" "00090478" "00091" "00090479" "00091" "00090480" "00091" "00090481" "00091" "00090482" "00091" "00386233" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 04214 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000280036" "04214" "00386233" "00000" "Familial, autosomal recessive" "32y" "" "" "12y" "" "" "" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000090607" "00090462" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090608" "00090463" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090609" "00090464" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090610" "00090465" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090611" "00090466" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090612" "00090467" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090613" "00090468" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090614" "00090469" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090615" "00090470" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090616" "00090471" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090617" "00090472" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090618" "00090473" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090619" "00090474" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090620" "00090475" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090621" "00090476" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090622" "00090477" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090623" "00090478" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090624" "00090479" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090625" "00090480" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090626" "00090481" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090627" "00090482" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387462" "00386233" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000090607" "BUB1" "0000090608" "BUB1" "0000090609" "BUB1" "0000090610" "BUB1" "0000090611" "BUB1" "0000090612" "BUB1" "0000090613" "BUB1" "0000090614" "BUB1" "0000090615" "BUB1" "0000090616" "BUB1" "0000090617" "BUB1" "0000090618" "BUB1" "0000090619" "BUB1" "0000090620" "BUB1" "0000090621" "BUB1" "0000090622" "BUB1" "0000090623" "BUB1" "0000090624" "BUB1" "0000090625" "BUB1" "0000090626" "BUB1" "0000090627" "BUB1" "0000387462" "MERTK" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 43 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000148736" "1" "50" "2" "111395707" "111395707" "subst" "0" "01816" "BUB1_000001" "g.111395707T>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148737" "1" "50" "2" "111397346" "111397346" "subst" "0" "01816" "BUB1_000002" "g.111397346A>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148738" "1" "50" "2" "111398645" "111398645" "subst" "0" "01816" "BUB1_000003" "g.111398645T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148739" "1" "50" "2" "111398765" "111398765" "subst" "0" "01816" "BUB1_000004" "g.111398765A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148740" "1" "50" "2" "111398768" "111398768" "subst" "0" "01816" "BUB1_000005" "g.111398768A>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148741" "1" "50" "2" "111398885" "111398885" "subst" "0" "01816" "BUB1_000006" "g.111398885G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148742" "1" "50" "2" "111399307" "111399307" "subst" "0" "01816" "BUB1_000007" "g.111399307A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148743" "1" "50" "2" "111399742" "111399742" "subst" "0" "01816" "BUB1_000008" "g.111399742A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148744" "1" "50" "2" "111406919" "111406919" "subst" "0" "01816" "BUB1_000009" "g.111406919A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148745" "1" "50" "2" "111413333" "111413333" "subst" "0" "01816" "BUB1_000010" "g.111413333A>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148746" "1" "50" "2" "111413351" "111413351" "subst" "0" "01816" "BUB1_000011" "g.111413351T>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148747" "1" "90" "2" "111413470" "111413470" "" "0" "01816" "BUB1_000012" "g.111413470delAG" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000148748" "1" "50" "2" "111414645" "111414645" "subst" "0" "01816" "BUB1_000013" "g.111414645C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148749" "1" "90" "2" "111415995" "111415995" "" "0" "01816" "BUB1_000014" "g.111415995delCA" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000148750" "1" "50" "2" "111419367" "111419367" "subst" "0" "01816" "BUB1_000015" "g.111419367G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148751" "1" "50" "2" "111425226" "111425226" "subst" "0" "01816" "BUB1_000016" "g.111425226C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148752" "1" "50" "2" "111425226" "111425226" "subst" "0" "01816" "BUB1_000016" "g.111425226C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148753" "1" "50" "2" "111427074" "111427074" "subst" "0" "01816" "BUB1_000017" "g.111427074A>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148754" "1" "50" "2" "111427107" "111427107" "subst" "0" "01816" "BUB1_000018" "g.111427107A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148755" "1" "50" "2" "111430340" "111430340" "subst" "0" "01816" "BUB1_000019" "g.111430340G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148756" "1" "50" "2" "111431902" "111431902" "subst" "0" "01816" "BUB1_000020" "g.111431902C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000253551" "0" "10" "2" "111416306" "111416306" "subst" "0.00114585" "01943" "BUB1_000023" "g.111416306A>G" "" "" "" "BUB1(NM_004336.4):c.1290T>C (p.H430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110658729A>G" "" "benign" "" "0000272216" "0" "30" "2" "111423917" "111423917" "subst" "5.71919E-5" "01943" "BUB1_000024" "g.111423917C>T" "" "" "" "BUB1(NM_004336.4):c.880G>A (p.D294N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110666340C>T" "" "likely benign" "" "0000327204" "0" "30" "2" "111425226" "111425226" "subst" "0.00197765" "01804" "BUB1_000025" "g.111425226G>A" "" "" "" "BUB1(NM_001278616.1):c.617C>T (p.(Ala206Val)), BUB1(NM_004336.4):c.677C>T (p.A226V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110667649G>A" "" "likely benign" "" "0000350703" "0" "50" "2" "111397410" "111397410" "subst" "0" "02327" "BUB1_000026" "g.111397410C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110639833C>T" "" "VUS" "" "0000350840" "0" "50" "2" "111399251" "111399252" "ins" "0" "02327" "BUB1_000027" "g.111399251_111399252insAAT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110641674_110641675insAAT" "" "VUS" "" "0000508944" "0" "50" "2" "111398956" "111398956" "subst" "0" "01943" "BUB1_000028" "g.111398956A>T" "" "" "" "BUB1(NM_004336.4):c.2711T>A (p.M904K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110641379A>T" "" "VUS" "" "0000508946" "0" "10" "2" "111399366" "111399366" "subst" "0.00245915" "01943" "BUB1_000030" "g.111399366G>A" "" "" "" "BUB1(NM_004336.4):c.2478C>T (p.A826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110641789G>A" "" "benign" "" "0000508948" "0" "50" "2" "111408119" "111408119" "subst" "0.000114347" "01804" "BUB1_000032" "g.111408119G>A" "" "" "" "BUB1(NM_001278616.1):c.2143+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110650542G>A" "" "VUS" "" "0000508949" "0" "30" "2" "111413500" "111413500" "subst" "4.09504E-6" "01943" "BUB1_000033" "g.111413500C>A" "" "" "" "BUB1(NM_004336.4):c.1699-7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110655923C>A" "" "likely benign" "" "0000508950" "0" "30" "2" "111417607" "111417607" "subst" "0" "01943" "BUB1_000034" "g.111417607C>T" "" "" "" "BUB1(NM_004336.4):c.1224G>A (p.V408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110660030C>T" "" "likely benign" "" "0000508951" "0" "10" "2" "111419353" "111419353" "subst" "0.00288415" "01943" "BUB1_000035" "g.111419353T>C" "" "" "" "BUB1(NM_004336.4):c.1023A>G (p.P341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110661776T>C" "" "benign" "" "0000508952" "0" "30" "2" "111425285" "111425285" "subst" "0" "01943" "BUB1_000036" "g.111425285A>G" "" "" "" "BUB1(NM_004336.4):c.621-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110667708A>G" "" "likely benign" "" "0000508953" "0" "10" "2" "111431951" "111431951" "subst" "0.00196139" "01943" "BUB1_000037" "g.111431951G>C" "" "" "" "BUB1(NM_004336.4):c.27-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110674374G>C" "" "benign" "" "0000606053" "0" "30" "2" "111399363" "111399363" "subst" "0.000138149" "01943" "BUB1_000038" "g.111399363G>A" "" "" "" "BUB1(NM_004336.4):c.2481C>T (p.N827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110641786G>A" "" "likely benign" "" "0000606054" "0" "30" "2" "111419345" "111419345" "subst" "0" "01943" "BUB1_000039" "g.111419345T>G" "" "" "" "BUB1(NM_004336.4):c.1031A>C (p.Y344S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110661768T>G" "" "likely benign" "" "0000606055" "0" "50" "2" "111425226" "111425226" "subst" "0.00197765" "01943" "BUB1_000025" "g.111425226G>A" "" "" "" "BUB1(NM_001278616.1):c.617C>T (p.(Ala206Val)), BUB1(NM_004336.4):c.677C>T (p.A226V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110667649G>A" "" "VUS" "" "0000717796" "0" "30" "2" "111408296" "111408296" "subst" "8.13306E-6" "01943" "BUB1_000040" "g.111408296C>T" "" "" "" "BUB1(NM_004336.4):c.2030G>A (p.R677H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799628" "0" "50" "2" "111399218" "111399218" "subst" "4.14353E-6" "02329" "BUB1_000041" "g.111399218C>T" "" "" "" "BUB1(NM_004336.5):c.2625+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799629" "0" "50" "2" "111408129" "111408129" "dup" "0" "02329" "BUB1_000042" "g.111408129dup" "" "" "" "BUB1(NM_004336.5):c.2197dupG (p.A733Gfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000815498" "0" "90" "2" "111371701" "113132395" "del" "0" "00000" "ACOXL_000006" "g.111371701_113132395del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "MERTK:NM_006343," "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.110614124_112374818del" "" "pathogenic" "ACMG" "0001032307" "0" "50" "2" "111406857" "111406857" "subst" "2.03644E-5" "01804" "BUB1_000043" "g.111406857C>T" "" "" "" "BUB1(NM_004336.5):c.2301G>A (p.(Trp767*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032308" "0" "50" "2" "111431886" "111431886" "del" "0" "01804" "BUB1_000044" "g.111431886del" "" "" "" "BUB1(NM_004336.5):c.85del (p.(Arg29Aspfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes BUB1 ## Count = 43 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000148736" "00003559" "00" "3092" "0" "3092" "0" "c.3092A>T" "" "" "" "0000148737" "00003559" "00" "3035" "0" "3035" "0" "c.3035T>G" "" "" "" "0000148738" "00003559" "00" "2921" "0" "2921" "0" "c.2921A>G" "" "" "" "0000148739" "00003559" "00" "2801" "0" "2801" "0" "c.2801T>C" "" "" "" "0000148740" "00003559" "00" "2798" "0" "2798" "0" "c.2798T>A" "" "" "" "0000148741" "00003559" "00" "2782" "0" "2782" "0" "c.2782C>T" "" "" "" "0000148742" "00003559" "00" "2537" "0" "2537" "0" "c.2537T>C" "" "" "" "0000148743" "00003559" "00" "2417" "0" "2417" "0" "c.2417T>C" "" "" "" "0000148744" "00003559" "00" "2239" "0" "2239" "0" "c.2239T>C" "" "" "" "0000148745" "00003559" "00" "1859" "0" "1859" "0" "c.1859T>G" "" "" "" "0000148746" "00003559" "00" "1841" "0" "1841" "0" "c.1841A>C" "" "" "" "0000148747" "00003559" "00" "1722" "0" "1722" "0" "c.1722delCT" "" "" "" "0000148748" "00003559" "00" "1666" "0" "1666" "0" "c.1666G>C" "" "" "" "0000148749" "00003559" "00" "1508" "0" "1508" "0" "c.1508delTG" "" "" "" "0000148750" "00003559" "00" "1009" "0" "1009" "0" "c.1009C>T" "" "" "" "0000148751" "00003559" "00" "677" "0" "677" "0" "c.677G>A" "" "" "" "0000148752" "00003559" "00" "677" "0" "677" "0" "c.677G>A" "" "" "" "0000148753" "00003559" "00" "523" "0" "523" "0" "c.523T>G" "" "" "" "0000148754" "00003559" "00" "490" "0" "490" "0" "c.490T>C" "" "" "" "0000148755" "00003559" "00" "320" "0" "320" "0" "c.320C>T" "" "" "" "0000148756" "00003559" "00" "67" "0" "67" "0" "c.67G>C" "" "" "" "0000253551" "00003559" "10" "1290" "0" "1290" "0" "c.1290T>C" "r.(?)" "p.(His430=)" "" "0000272216" "00003559" "30" "880" "0" "880" "0" "c.880G>A" "r.(?)" "p.(Asp294Asn)" "" "0000327204" "00003559" "30" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ala226Val)" "" "0000350703" "00003559" "50" "2971" "0" "2971" "0" "c.2971G>A" "r.(?)" "p.(Val991Ile)" "" "0000350840" "00003559" "50" "2592" "0" "2593" "0" "c.2592_2593insATT" "r.(?)" "p.(Leu864_Val865insIle)" "" "0000508944" "00003559" "50" "2711" "0" "2711" "0" "c.2711T>A" "r.(?)" "p.(Met904Lys)" "" "0000508946" "00003559" "10" "2478" "0" "2478" "0" "c.2478C>T" "r.(?)" "p.(Ala826=)" "" "0000508948" "00003559" "50" "2203" "4" "2203" "4" "c.2203+4C>T" "r.spl?" "p.?" "" "0000508949" "00003559" "30" "1699" "-7" "1699" "-7" "c.1699-7G>T" "r.(=)" "p.(=)" "" "0000508950" "00003559" "30" "1224" "0" "1224" "0" "c.1224G>A" "r.(?)" "p.(Val408=)" "" "0000508951" "00003559" "10" "1023" "0" "1023" "0" "c.1023A>G" "r.(?)" "p.(Pro341=)" "" "0000508952" "00003559" "30" "621" "-3" "621" "-3" "c.621-3T>C" "r.spl?" "p.?" "" "0000508953" "00003559" "10" "27" "-9" "27" "-9" "c.27-9C>G" "r.(=)" "p.(=)" "" "0000606053" "00003559" "30" "2481" "0" "2481" "0" "c.2481C>T" "r.(?)" "p.(Asn827=)" "" "0000606054" "00003559" "30" "1031" "0" "1031" "0" "c.1031A>C" "r.(?)" "p.(Tyr344Ser)" "" "0000606055" "00003559" "50" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ala226Val)" "" "0000717796" "00003559" "30" "2030" "0" "2030" "0" "c.2030G>A" "r.(?)" "p.(Arg677His)" "" "0000799628" "00003559" "50" "2625" "1" "2625" "1" "c.2625+1G>A" "r.spl?" "p.?" "" "0000799629" "00003559" "50" "2197" "0" "2197" "0" "c.2197dup" "r.(?)" "p.(Ala733Glyfs*12)" "" "0000815498" "00003559" "90" "-1696823" "0" "27098" "0" "c.-1696823_*23840del" "r.0?" "p.0?" "" "0001032307" "00003559" "50" "2301" "0" "2301" "0" "c.2301G>A" "r.(?)" "p.(Trp767*)" "" "0001032308" "00003559" "50" "85" "0" "85" "0" "c.85del" "r.(?)" "p.(Arg29Aspfs*6)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000090607" "0000148736" "0000090608" "0000148737" "0000090609" "0000148738" "0000090610" "0000148739" "0000090611" "0000148740" "0000090612" "0000148741" "0000090613" "0000148742" "0000090614" "0000148743" "0000090615" "0000148744" "0000090616" "0000148745" "0000090617" "0000148746" "0000090618" "0000148747" "0000090619" "0000148748" "0000090620" "0000148749" "0000090621" "0000148750" "0000090622" "0000148751" "0000090623" "0000148752" "0000090624" "0000148753" "0000090625" "0000148754" "0000090626" "0000148755" "0000090627" "0000148756" "0000387462" "0000815498"